U.S. flag

An official website of the United States government

Illumina Laboratory Services (Illumina)

Summary of submissions to ClinVar

Total submissions: 178828

Gene

GeneSubmissionsLast Updated
AAAS17Feb 20, 2020
AARS180Feb 3, 2026
AARS2119Feb 20, 2020
ABAT142Feb 20, 2020
ABCA1474Feb 3, 2026
ABCA12161Feb 20, 2020
ABCA3198Feb 20, 2020
ABCA4194Mar 19, 2024
ABCB11108Mar 19, 2024
ABCB4126Mar 19, 2024
ABCB710Feb 20, 2020
ABCC2124Feb 20, 2020
ABCC8346Feb 3, 2026
ABCC9120Dec 14, 2020
ABCD169Nov 6, 2023
ABCG583Feb 20, 2020
ABCG8108Feb 20, 2020
ABHD1243Feb 20, 2020
ABHD181Feb 20, 2020
ABHD5104Feb 20, 2020
ABI14Feb 20, 2020
ABL11Dec 13, 2022
ACAD857Feb 20, 2020
ACAD958Apr 25, 2024
ACADM35Aug 9, 2021
ACADS57May 23, 2024
ACADSB139Feb 20, 2020
ACADVL63Apr 8, 2025
ACAN1Aug 9, 2021
ACAT158Feb 20, 2020
ACBD514Feb 20, 2020
ACBD628Feb 20, 2020
ACE168Feb 20, 2020
ACO21Sep 19, 2023
ACOX1152Feb 20, 2020
ACSL41Oct 7, 2021
ACTA175Mar 19, 2024
ACTA233Feb 20, 2020
ACTA2-AS112Feb 20, 2020
ACTB3Dec 20, 2021
ACTC1152Apr 8, 2025
ACTG21Mar 19, 2024
ACTL6B1Feb 3, 2026
ACTN287Feb 20, 2020
ACVR148Jul 16, 2020
ACVR2B218Feb 20, 2020
ACVR2B-AS13Feb 20, 2020
ACVRL187Feb 20, 2020
ACYP11Feb 20, 2020
ADA38Feb 20, 2020
ADAM963Jun 18, 2024
ADAMTS10110Feb 20, 2020
ADAMTS1398Feb 20, 2020
ADAMTS17325Mar 19, 2024
ADAMTS2187Jul 9, 2024
ADAMTS48Feb 20, 2020
ADAMTSL2128Feb 20, 2020
ADAMTSL4125Feb 20, 2020
ADAMTSL4-AS261Feb 20, 2020
ADAR120Feb 20, 2020
ADGRG1110Feb 20, 2020
ADGRG328Feb 20, 2020
ADGRV1406Apr 22, 2025
ADK30Feb 20, 2020
ADK-AS12Feb 20, 2020
ADNP4Feb 10, 2023
ADNP-AS113Dec 16, 2021
ADSL27Feb 20, 2020
AFG3L250Dec 20, 2021
AGA28Feb 20, 2020
AGA-DT2Feb 20, 2020
AGK120Feb 20, 2020
AGL119Apr 22, 2025
AGMO2Oct 7, 2021
AGO22Sep 19, 2023
AGPAT272Nov 6, 2023
AGPS126Feb 20, 2020
AGT57Feb 20, 2020
AGTR152Feb 20, 2020
AGXT59Feb 20, 2020
AHCY38Feb 20, 2020
AHDC12Aug 9, 2021
AHI1114Feb 3, 2026
AICDA56Feb 20, 2020
AIFM127Feb 20, 2020
AIMP21Mar 15, 2024
AIP37Mar 19, 2024
AIPL1159Feb 20, 2020
AIRE1Feb 10, 2023
AKAP1949Feb 20, 2020
AKR1D192Feb 20, 2020
AKT36Feb 20, 2020
ALAD75Feb 20, 2020
ALAS231Mar 19, 2024
ALB53Feb 20, 2020
ALDH18A169Nov 6, 2023
ALDH3A271Feb 20, 2020
ALDH4A1106Feb 20, 2020
ALDH5A1133Apr 22, 2025
ALDH6A177Feb 20, 2020
ALDH7A1123Dec 14, 2020
ALDOB62Feb 20, 2020
ALG12Dec 16, 2021
ALG1142Feb 20, 2020
ALG1270Feb 20, 2020
ALG337Feb 20, 2020
ALG659Feb 20, 2020
ALG833Feb 20, 2020
ALG963Feb 20, 2020
ALK159Feb 20, 2020
ALMS111Feb 20, 2020
ALOX12B65Feb 20, 2020
ALOXE372Feb 20, 2020
ALPL68Dec 13, 2022
ALS2211Feb 20, 2020
ALX4157Feb 20, 2020
AMACR62Feb 20, 2020
AMER11Mar 19, 2024
AMMECR11Mar 19, 2024
AMPD3106Feb 20, 2020
AMT46Dec 14, 2020
ANAPC1540Feb 20, 2020
ANG34Feb 20, 2020
ANGPT24Feb 20, 2020
ANK1417Apr 7, 2025
ANK2242Feb 20, 2020
ANK31Apr 22, 2025
ANKH386Feb 20, 2020
ANKIB114Feb 20, 2020
ANKRD140Feb 20, 2020
ANKRD114Mar 19, 2024
ANKRD171Dec 16, 2021
ANKRD26126Feb 20, 2020
ANKS1B1Oct 7, 2022
ANO1076Feb 20, 2020
ANO5137Feb 20, 2020
ANOS11Feb 10, 2023
ANTXR2140Feb 20, 2020
AOPEP95Feb 20, 2020
AP3B168Feb 20, 2020
AP3M13Feb 20, 2020
AP4M11Sep 19, 2023
AP5Z1277Feb 20, 2020
APC165Apr 22, 2025
APEX21Feb 20, 2020
APIP12Feb 20, 2020
APOA138Feb 20, 2020
APOA1-AS24Feb 20, 2020
APOA26Feb 20, 2020
APOA51Apr 22, 2025
APOB556Apr 22, 2025
APOB3'MAR24Feb 20, 2020
APOC220Feb 20, 2020
APOC4-APOC220Feb 20, 2020
APP72Feb 20, 2020
APRT16Feb 20, 2020
APTX45Feb 10, 2023
AQP112Oct 7, 2021
AQP299Feb 20, 2020
AQP5-AS182Feb 20, 2020
AR3Apr 22, 2025
AREL11Feb 20, 2020
ARFGEF13Mar 15, 2024
ARFGEF1-DT21Feb 20, 2020
ARFGEF2138Feb 20, 2020
ARG119Feb 20, 2020
ARID1A4Jun 29, 2023
ARID1B9Jun 18, 2024
ARID21Dec 18, 2020
ARL14EP-DT25Feb 20, 2020
ARL644Feb 20, 2020
ARMCX5-GPRASP21Oct 7, 2021
ARMS221Feb 20, 2020
ARSA125Apr 22, 2025
ARSB105Apr 22, 2025
ARSL1Dec 14, 2020
ARX1Dec 14, 2020
ASAH183Dec 14, 2020
ASCC12Mar 15, 2024
ASH1L5Jun 29, 2023
ASL46Dec 16, 2021
ASPA5Feb 1, 2019
ASPM239Feb 20, 2020
ASS157Feb 20, 2020
ASTN2129Feb 20, 2020
ASXL12Mar 19, 2024
ASXL24Mar 19, 2024
ASXL33Mar 19, 2024
ATAD3A7Feb 3, 2026
ATCAY130Feb 20, 2020
ATL143Nov 6, 2023
ATM253Apr 22, 2025
ATP13A2114Jul 16, 2020
ATP1A2247Nov 15, 2023
ATP1A3142Mar 19, 2024
ATP2A160Feb 20, 2020
ATP2A1-AS11Feb 20, 2020
ATP2A282Feb 20, 2020
ATP2C165Feb 20, 2020
ATP5F1A1Sep 19, 2023
ATP6AP11Mar 19, 2024
ATP6V0A2143Feb 20, 2020
ATP6V0A487Apr 25, 2024
ATP6V1B147Feb 20, 2020
ATP6V1B1-AS13Feb 20, 2020
ATP7A1Dec 20, 2021
ATP7B188Apr 22, 2025
ATP8B1140Feb 20, 2020
ATP8B1-AS185Feb 20, 2020
ATPAF234Feb 20, 2020
ATR118Dec 14, 2020
ATRIP36Feb 20, 2020
ATRIP-TREX136Feb 20, 2020
ATRX2Apr 22, 2025
ATXN7L3-AS11Aug 9, 2021
AUH23Feb 20, 2020
AUP114Feb 20, 2020
AURKC24Feb 20, 2020
AVIL4Feb 20, 2020
AVPR241Feb 20, 2020
AXDND123Dec 14, 2020
AXIN2114Feb 20, 2020
B3GALNT213Feb 20, 2020
B3GAT31Feb 20, 2020
B3GLCT96Feb 20, 2020
B9D116Feb 20, 2020
BAAT80Feb 20, 2020
BACH21Dec 14, 2020
BAG233Feb 20, 2020
BAG3125Nov 6, 2023
BANF126Feb 20, 2020
BAP161Feb 20, 2020
BARD155Feb 20, 2020
BBOF175Feb 20, 2020
BBS171Jun 29, 2023
BBS1071Feb 20, 2020
BBS1258Feb 20, 2020
BBS267Feb 20, 2020
BBS452Feb 20, 2020
BBS752Feb 20, 2020
BBS990Apr 1, 2020
BCHE45Feb 10, 2023
BCKDHA66Apr 22, 2025
BCKDHB66Feb 20, 2020
BCL11A2Aug 9, 2021
BCL11B1Dec 20, 2021
BCOR2Aug 9, 2021
BCORL11Feb 10, 2023
BCS1L64Feb 20, 2020
BEST1121Feb 20, 2020
BFSP235Feb 20, 2020
BFSP2-AS119Feb 20, 2020
BGN1Mar 19, 2024
BICD21Nov 15, 2023
BIN173Feb 20, 2020
BIVM-ERCC5109Feb 20, 2020
BLK84Feb 20, 2020
BLK-AS119Feb 20, 2020
BLM74Feb 20, 2020
BLOC1S1-RDH527Feb 20, 2020
BMP178Feb 20, 2020
BMP1517Feb 20, 2020
BMP448Feb 20, 2020
BMPER106Feb 20, 2020
BMPR1A62Feb 20, 2020
BMPR1B116Feb 20, 2020
BMPR2178Feb 20, 2020
BNAT17Feb 20, 2020
BOLA312Feb 20, 2020
BORCS81Feb 20, 2020
BORCS8-MEF2B1Feb 20, 2020
BPNT2157Feb 20, 2020
BPTF1Dec 14, 2020
BRAF73Dec 16, 2021
BRAT12Sep 19, 2023
BRCA1138Apr 28, 2025
BRCA2421Apr 22, 2025
BRIP1138Dec 14, 2020
BRPF11Dec 14, 2020
BRRIAR5Feb 20, 2020
BRWD396Mar 19, 2024
BSCL273Feb 20, 2020
BSND38Feb 20, 2020
BTD4Feb 1, 2019
BTK38Dec 16, 2021
C10orf10566Feb 20, 2020
C10orf5563Feb 20, 2020
C11orf65124Apr 22, 2025
C12orf4325Feb 20, 2020
C12orf572Dec 20, 2021
C14orf3932Feb 20, 2020
C17orf10732Feb 20, 2020
C19orf12129Apr 1, 2020
C1QTNF3-AMACR62Feb 20, 2020
C1QTNF5173Feb 20, 2020
C2114Feb 20, 2020
C2-AS122Feb 20, 2020
C3363Jul 11, 2024
C3orf802Feb 20, 2020
C9orf7266Feb 20, 2020
CA224Feb 20, 2020
CA3-AS12Feb 20, 2020
CA428Feb 20, 2020
CABP4101Feb 20, 2020
CACNA1A10Mar 19, 2024
CACNA1B1Aug 9, 2021
CACNA1C2Sep 19, 2023
CACNA1D2Feb 3, 2026
CACNA1E2Feb 10, 2023
CACNA1I1Feb 10, 2023
CACNA1S195Feb 10, 2023
CACNA2D4159Feb 20, 2020
CACNB4128Feb 20, 2020
CAD2Dec 14, 2020
CADM31Apr 12, 2024
CADM3-AS11Apr 12, 2024
CAMK2B1Dec 20, 2021
CAMK2G1Apr 1, 2020
CAMK41Oct 7, 2021
CAMTA13Apr 22, 2025
CANT199Feb 20, 2020
CAPN390Feb 27, 2026
CARD141Feb 1, 2019
CARD965Feb 20, 2020
CASD119Aug 9, 2021
CASK2Dec 20, 2021
CASP10113Feb 20, 2020
CASP855Feb 20, 2020
CASQ289Feb 20, 2020
CASR238Jun 29, 2023
CAST55Feb 20, 2020
CATIP-AS261Feb 20, 2020
CATSPER167Feb 20, 2020
CAV351Dec 20, 2021
CAVIN163Feb 20, 2020
CBARP2Feb 20, 2020
CBL234Feb 3, 2026
CBLIF30Feb 20, 2020
CBR445Feb 20, 2020
CBS80Feb 20, 2020
CC2D2A223Feb 20, 2020
CCBE1188Feb 20, 2020
CCDC125Feb 20, 2020
CCDC14014Feb 20, 2020
CCDC321Sep 19, 2023
CCDC3999Feb 20, 2020
CCDC40144May 23, 2024
CCDST7Sep 8, 2024
CCM21Feb 3, 2026
CCN619Feb 20, 2020
CCNF1Feb 20, 2020
CCNH30Feb 3, 2026
CCT593Feb 20, 2020
CD1939Feb 20, 2020
CD2AP97Feb 20, 2020
CD2AP-DT10Feb 20, 2020
CD3681Feb 20, 2020
CD3D13Feb 20, 2020
CD3E32Feb 20, 2020
CD3G26Feb 20, 2020
CD4030Feb 20, 2020
CD4660Feb 20, 2020
CD6312Feb 20, 2020
CDAN1139Feb 20, 2020
CDC631Feb 20, 2020
CDC73291Feb 20, 2020
CDCA7L3Feb 20, 2020
CDH199Feb 20, 2020
CDH23756Feb 3, 2026
CDH23-AS128Feb 20, 2020
CDH392Feb 20, 2020
CDH3-AS18Feb 20, 2020
CDHR1127Feb 20, 2020
CDK132Sep 19, 2023
CDK435Feb 20, 2020
CDK5RAP293Feb 20, 2020
CDKL51Apr 22, 2025
CDKN1B66Feb 20, 2020
CDKN1C2Mar 19, 2024
CDKN2A2Mar 19, 2024
CDON208Jun 1, 2022
CENPL4Feb 20, 2020
CEP12814Feb 20, 2020
CEP152202May 23, 2024
CEP290653Feb 20, 2020
CEP41124Feb 20, 2020
CEP85L33Nov 6, 2023
CERKL77Feb 20, 2020
CETP50Apr 22, 2025
CFAP418112Feb 20, 2020
CFAP418-AS110Feb 20, 2020
CFAP9216Feb 20, 2020
CFB88Feb 20, 2020
CFH328Feb 3, 2026
CFHR568Feb 20, 2020
CFI58Feb 20, 2020
CFL237Feb 20, 2020
CFTR153Feb 3, 2026
CFTR-AS121Apr 22, 2025
CFTR-AS228Feb 20, 2020
CGREF141Feb 20, 2020
CHD34Feb 10, 2023
CHD7207Mar 19, 2024
CHD83Feb 3, 2026
CHEK244Mar 19, 2024
CHIT176Feb 20, 2020
CHKB38Feb 20, 2020
CHKB-CPT1B38Feb 20, 2020
CHMP2B50Feb 20, 2020
CHN146Feb 20, 2020
CHPT178Feb 20, 2020
CHRNA190Feb 20, 2020
CHRNA298Dec 14, 2020
CHRNB160Feb 20, 2020
CHRNB256Feb 20, 2020
CHRND142Feb 20, 2020
CHRNE100Dec 16, 2021
CHRNG127Feb 20, 2020
CHROMR22Feb 20, 2020
CHST362Feb 20, 2020
CHST6177Feb 20, 2020
CIAO11Feb 20, 2020
CIAO31Mar 19, 2024
CIAPIN13Feb 20, 2020
CIC3Feb 10, 2023
CIITA143Feb 20, 2020
CIMIP311Feb 20, 2020
CLASP13Oct 7, 2021
CLASP1-AS12Apr 1, 2020
CLCC116Feb 20, 2020
CLCN183Dec 20, 2021
CLCN31Jun 1, 2022
CLCN41Dec 20, 2021
CLCN585Feb 3, 2026
CLCN7144Feb 20, 2020
CLDN1454Feb 20, 2020
CLDN14-AS154Feb 20, 2020
CLDN1673Feb 20, 2020
CLDN1964Feb 20, 2020
CLDN51Apr 7, 2025
CLN357Feb 20, 2020
CLN553Feb 20, 2020
CLN673Feb 10, 2023
CLRN148Feb 20, 2020
CLRN1-AS111Feb 20, 2020
CLTC2Dec 16, 2021
CMYA52Oct 7, 2021
CNGA147Feb 20, 2020
CNGA386Dec 14, 2020
CNGB1192Feb 20, 2020
CNGB3208Feb 20, 2020
CNNM258Dec 14, 2020
CNNM481Feb 20, 2020
CNOT31Jul 14, 2023
CNTNAP12Jun 1, 2022
CNTNAP2159Feb 20, 2020
CNTNAP51Oct 7, 2021
COCH43Feb 20, 2020
COCH-AS126Feb 20, 2020
COG161Feb 20, 2020
COG5114Feb 20, 2020
COG673Feb 20, 2020
COG757Feb 20, 2020
COG841Feb 20, 2020
COL10A177Feb 20, 2020
COL11A1318May 23, 2024
COL11A2331Feb 20, 2020
COL17A1160Feb 20, 2020
COL18A1184Feb 20, 2020
COL1A1404Apr 22, 2025
COL1A2237Aug 9, 2021
COL1A2-AS112Feb 20, 2020
COL2A1254Apr 22, 2025
COL3A198Feb 20, 2020
COL4A1322Apr 12, 2024
COL4A2188Jun 1, 2022
COL4A2-AS126Feb 20, 2020
COL4A2-AS212Feb 20, 2020
COL4A3182Sep 8, 2024
COL4A4241Dec 13, 2022
COL4A53Nov 15, 2023
COL5A1110Sep 19, 2023
COL5A294Feb 20, 2020
COL6A1196Jun 29, 2023
COL6A2192Jul 16, 2020
COL6A3319May 28, 2024
COL7A1240Feb 20, 2020
COL9A291Feb 20, 2020
COLQ65Feb 20, 2020
COMETT8Feb 20, 2020
COMP126Dec 14, 2020
COPB22Feb 20, 2020
COQ72Sep 19, 2023
COQ7-DT1Jun 29, 2023
COQ8A81Feb 20, 2020
COQ938Feb 20, 2020
COX10146Feb 20, 2020
COX15115Feb 20, 2020
COX201Sep 19, 2023
COX6B17Feb 20, 2020
CP123Feb 20, 2020
CPA647Feb 20, 2020
CPAP208Feb 20, 2020
CPLANE1197Aug 9, 2021
CPLANE1-AS13Feb 20, 2020
CPO85Feb 20, 2020
CPOX76Feb 20, 2020
CPS1119Apr 1, 2020
CPT253Feb 3, 2026
CRB1208Feb 20, 2020
CREBBP6Jun 1, 2022
CRPPA187Feb 20, 2020
CRPPA-AS111Feb 20, 2020
CRTAP174Feb 20, 2020
CRX387Feb 20, 2020
CRYAA28Feb 20, 2020
CRYAB35Feb 20, 2020
CRYBA427Feb 20, 2020
CRYBB127Feb 20, 2020
CRYBB332Feb 20, 2020
CRYGD24Feb 20, 2020
CSF1R124Dec 16, 2021
CSNK2A12Jun 29, 2023
CSNK2B2Jun 11, 2024
CSRP332Apr 22, 2025
CSRP3-AS16Feb 20, 2020
CSTB27Feb 20, 2020
CTBP11Mar 19, 2024
CTBP1-AS1Mar 19, 2024
CTC1216Feb 20, 2020
CTCF4Mar 15, 2024
CTH46Feb 20, 2020
CTNNB15Mar 19, 2024
CTNND21Jun 18, 2024
CTNS294Feb 20, 2020
CTNS-AS132Feb 20, 2020
CTRC34Feb 3, 2026
CTSA32Feb 20, 2020
CTSC90Dec 14, 2020
CTSD72Feb 20, 2020
CTSK13Feb 20, 2020
CTXN2-AS120Feb 20, 2020
CUBN331Feb 20, 2020
CUL3111Mar 15, 2024
CUL4B3Nov 15, 2023
CUL7124Feb 20, 2020
CUTC12Feb 20, 2020
CUX11Feb 3, 2026
CYB5R31Dec 14, 2020
CYFIP21Jul 16, 2020
CYGB53Feb 20, 2020
CYLD327Feb 20, 2020
CYLD-AS157Feb 20, 2020
CYLD-AS2273Feb 20, 2020
CYP11A129Feb 20, 2020
CYP11B1229Feb 20, 2020
CYP11B2267Feb 20, 2020
CYP17A125Feb 20, 2020
CYP17A1-AS13Feb 20, 2020
CYP19A183Feb 20, 2020
CYP1B1220Feb 20, 2020
CYP21A21Dec 14, 2020
CYP24A193Sep 8, 2024
CYP27A151Feb 20, 2020
CYP27B136Feb 20, 2020
CYP4F2260Feb 20, 2020
CYP4V2241Feb 20, 2020
CYP7B136Feb 20, 2020
D2HGDH112Feb 20, 2020
DAAM218Feb 20, 2020
DARS242Feb 20, 2020
DBH127Feb 20, 2020
DBH-AS115Feb 20, 2020
DBNL24Feb 20, 2020
DBT150Feb 20, 2020
DCAF17114Feb 20, 2020
DCLRE1C90Feb 20, 2020
DCN36Feb 20, 2020
DCTN1164Feb 20, 2020
DCX1Jul 14, 2023
DDB233Feb 20, 2020
DDC50Feb 20, 2020
DDC-AS18Feb 20, 2020
DDOST9Feb 20, 2020
DDR249Mar 19, 2024
DDX3X7Mar 19, 2024
DDX412Mar 19, 2024
DEGS14Mar 19, 2024
DENND1160Feb 20, 2020
DENND4A18Feb 20, 2020
DEPDC52Mar 19, 2024
DES132Apr 12, 2024
DES-LCR9Feb 20, 2020
DGUOK24Feb 20, 2020
DGUOK-AS15Feb 20, 2020
DHCR2487Feb 20, 2020
DHCR797Jun 29, 2023
DHDDS59Jun 29, 2023
DHH29Feb 20, 2020
DHH-AS19Feb 20, 2020
DHODH73Feb 20, 2020
DHPS2Mar 19, 2024
DHTKD12Dec 16, 2021
DHX91Nov 6, 2023
DIAPH1110Feb 20, 2020
DIAPH31Dec 14, 2020
DICER1159Mar 19, 2024
DIPK1A14Feb 20, 2020
DIS3L293Feb 20, 2020
DISP11Mar 19, 2024
DKC12Mar 19, 2024
DLD212Feb 20, 2020
DLG46Nov 15, 2023
DLL3128Feb 20, 2020
DLST1Nov 15, 2023
DLX364Feb 20, 2020
DMD197Apr 22, 2025
DMP162Feb 20, 2020
DMP1-AS162Feb 20, 2020
DNAAF186Feb 20, 2020
DNAAF1131Feb 20, 2020
DNAAF1934Feb 20, 2020
DNAAF269Feb 20, 2020
DNAAF333Feb 20, 2020
DNAAF3-AS112Feb 20, 2020
DNAH1184Mar 19, 2024
DNAH5415Feb 20, 2020
DNAH5-AS172Feb 20, 2020
DNAI146Feb 20, 2020
DNAI276Feb 20, 2020
DNAJB658Feb 20, 2020
DNAJC5145Feb 20, 2020
DNASE1L15Feb 20, 2020
DNM12Feb 10, 2023
DNM1L10Feb 20, 2020
DNM2184Feb 20, 2020
DNMT1101Feb 20, 2020
DNMT3A2Jun 29, 2023
DNMT3B109Feb 20, 2020
DOCK32Feb 3, 2026
DOCK8195Feb 20, 2020
DOCK8-AS18Feb 20, 2020
DOHH2Mar 15, 2024
DOLK42Feb 20, 2020
DONSON2Jun 29, 2023
DPAGT133Nov 15, 2023
DPF21Dec 16, 2021
DPM122Sep 8, 2024
DPM231Feb 20, 2020
DPM32Feb 20, 2020
DPYD91Feb 20, 2020
DPYD-AS112Feb 20, 2020
DPYS43Sep 8, 2024
DRC910Feb 20, 2020
DRD313Feb 20, 2020
DSC2104Apr 22, 2025
DSCAS14Feb 20, 2020
DSG1-AS198Feb 20, 2020
DSG2136Apr 22, 2025
DSG2-AS174Apr 22, 2025
DSG498Feb 20, 2020
DSP507Nov 6, 2023
DSP-AS130Feb 20, 2020
DST1Aug 9, 2021
DUOX2202Feb 20, 2020
DUOXA23Feb 20, 2020
DUS4L15Feb 20, 2020
DUS4L-BCAP2915Feb 20, 2020
DYM10Feb 20, 2020
DYNC1H1369Feb 3, 2026
DYNC2H1240Feb 20, 2020
DYNC2LI153Feb 20, 2020
DYRK1A6Mar 19, 2024
DYSF216Apr 22, 2025
EARS278Feb 20, 2020
EBF31Jun 29, 2023
EBP1Dec 14, 2020
ECEL11Jun 29, 2023
EDAR102Feb 20, 2020
EDARADD67Feb 20, 2020
EDN365Feb 20, 2020
EDNRB73Feb 20, 2020
EDNRB-AS154Feb 20, 2020
EEF21Feb 3, 2026
EFCAB13-DT48Feb 20, 2020
EFEMP147Feb 20, 2020
EFEMP237Feb 20, 2020
EFNB11Dec 13, 2022
EFTUD23Mar 19, 2024
EGF119Feb 20, 2020
EGILA18Feb 20, 2020
EGLN1138Feb 20, 2020
EGR228Feb 20, 2020
EIF1AD4Feb 20, 2020
EIF2AK11Mar 15, 2024
EIF2AK22Feb 10, 2023
EIF2AK360Feb 20, 2020
EIF2AK3-AS124Feb 20, 2020
EIF2B147Feb 20, 2020
EIF2B230Feb 20, 2020
EIF2B343Feb 20, 2020
EIF2B444Feb 10, 2023
EIF2B539Nov 15, 2023
EIF3J1Feb 20, 2020
ELN167Sep 19, 2023
ELN-AS112Feb 20, 2020
ELOVL462Feb 20, 2020
ELP1151Feb 20, 2020
ELP21Nov 6, 2023
ELP4398Feb 20, 2020
EMC43Feb 20, 2020
EMD2Apr 12, 2024
EME21Sep 19, 2023
EML39Feb 20, 2020
ENAM96Feb 20, 2020
ENG87Mar 19, 2024
ENO327Feb 20, 2020
ENPP1342Feb 20, 2020
ENTPD735Feb 20, 2020
EP3004Mar 19, 2024
EPAS1130Feb 20, 2020
EPB4244Feb 20, 2020
EPHA2104Feb 20, 2020
EPHA2-AS11Feb 20, 2020
EPM2A2Feb 10, 2023
EPM2A-DT1Feb 10, 2023
EPOR52Feb 20, 2020
ERCC296Feb 20, 2020
ERCC352Feb 20, 2020
ERCC4160Feb 20, 2020
ERCC5109Feb 20, 2020
ERCC6457Feb 20, 2020
ERCC850Feb 20, 2020
ERCC8-AS15Feb 20, 2020
ESCO257Feb 20, 2020
ESR144Feb 20, 2020
ESR214Feb 20, 2020
ESRRB68Feb 20, 2020
ETFA29Feb 20, 2020
ETFDH37Feb 20, 2020
ETHE122Feb 20, 2020
EVC244Feb 20, 2020
EVC2136Feb 20, 2020
EXOSC341Mar 19, 2024
EXT150Feb 20, 2020
EXT292Apr 22, 2025
EYA1193Feb 20, 2020
EYA4186Feb 20, 2020
EYS208Dec 16, 2021
EZH22Mar 19, 2024
F1033Feb 20, 2020
F10-AS15Feb 20, 2020
F1180Jun 11, 2024
F11-AS140Feb 20, 2020
F1282Feb 20, 2020
F13A170Feb 20, 2020
F13B42Feb 20, 2020
F273Feb 10, 2023
F5630Feb 20, 2020
F770Feb 20, 2020
F865Dec 14, 2020
F929Feb 20, 2020
FA2H65Feb 20, 2020
FAAH21Oct 7, 2021
FAH73Apr 12, 2024
FAM161A76Feb 20, 2020
FAM187A10Feb 20, 2020
FAM20A93Aug 9, 2021
FAM219B6Feb 20, 2020
FANCA191Dec 16, 2021
FANCB84Feb 20, 2020
FANCC111Feb 20, 2020
FANCD2119Dec 14, 2020
FANCD2OS35Feb 20, 2020
FANCE61Nov 6, 2023
FANCF71Feb 20, 2020
FANCG51Nov 15, 2023
FANCI147Dec 14, 2020
FANCL43Feb 20, 2020
FAR11Dec 16, 2021
FAS51Aug 9, 2021
FASLG33Feb 20, 2020
FASTKD2146Feb 20, 2020
FBLN5108Feb 20, 2020
FBN11294Apr 22, 2025
FBN2259Dec 20, 2021
FBP149Feb 20, 2020
FBXL339Feb 20, 2020
FBXL41Feb 3, 2026
FBXL5199Feb 20, 2020
FBXL812Feb 20, 2020
FBXO111Feb 20, 2020
FBXO281Aug 9, 2021
FBXO740Feb 20, 2020
FBXW111Aug 9, 2021
FBXW440Feb 20, 2020
FBXW71Nov 6, 2023
FECH8Feb 20, 2020
FEM1C1Feb 10, 2023
FERMT1146Feb 20, 2020
FGA61Feb 20, 2020
FGB74Feb 3, 2026
FGD4164Feb 20, 2020
FGF1010Feb 20, 2020
FGF1446Feb 20, 2020
FGF23110Feb 20, 2020
FGF983Feb 20, 2020
FGFR1551Nov 15, 2023
FGFR2466Dec 14, 2020
FGFR32Apr 22, 2025
FGG26Aug 9, 2021
FH79Apr 22, 2025
FHL12Feb 10, 2023
FHOD31Apr 1, 2020
FIG4118Aug 9, 2021
FIGLA21Feb 20, 2020
FKBP1070Mar 19, 2024
FKTN218Feb 20, 2020
FKTN-AS12Feb 20, 2020
FLCN179Feb 20, 2020
FLG7Sep 8, 2024
FLNA3Nov 15, 2023
FLNB251Dec 14, 2020
FLNB-AS121Feb 20, 2020
FLNC4Apr 22, 2025
FLNC-AS12Nov 6, 2023
FLVCR1129Apr 1, 2020
FLVCR258Feb 20, 2020
FLVCR2-AS114Feb 20, 2020
FMO351Feb 20, 2020
FOLR115Feb 20, 2020
FOLR1-AS115Feb 20, 2020
FOXC11Mar 19, 2024
FOXC22Sep 19, 2023
FOXC2-AS11Jun 29, 2023
FOXG11Mar 19, 2024
FOXH163Feb 20, 2020
FOXI151Feb 20, 2020
FOXN167Feb 20, 2020
FOXP13Feb 3, 2026
FOXP2108Aug 9, 2021
FOXRED148Feb 20, 2020
FRA11B6Feb 20, 2020
FRAS1423Feb 20, 2020
FREM1267Feb 20, 2020
FREM2341Feb 20, 2020
FRMD740Feb 20, 2020
FRMPD42Mar 19, 2024
FSHB25Feb 20, 2020
FSHR100Feb 20, 2020
FTH140Feb 20, 2020
FTL42Feb 20, 2020
FTO99Feb 20, 2020
FUCA135Feb 20, 2020
FUS137Aug 9, 2021
FXYD219Feb 20, 2020
FXYD6-FXYD219Feb 20, 2020
FYCO1194Feb 20, 2020
FZD4115Feb 20, 2020
G6PC194Feb 20, 2020
G6PC332Feb 20, 2020
G6PD45Jun 29, 2023
GAA134Apr 22, 2025
GABRA198Feb 20, 2020
GABRA41Jan 12, 2024
GABRB23Apr 22, 2025
GABRG273Feb 20, 2020
GAD163Feb 20, 2020
GAD1-AS119Feb 20, 2020
GALC98Nov 15, 2023
GALE36Feb 20, 2020
GALK199Feb 20, 2020
GALNS101Feb 20, 2020
GALNT348Feb 20, 2020
GALT35Apr 22, 2025
GAMT39Feb 20, 2020
GAN113Sep 19, 2023
GANAB1Apr 22, 2025
GAREM279Feb 20, 2020
GARS1203Jul 16, 2020
GATA272Feb 20, 2020
GATA2-AS16Feb 20, 2020
GATA371Feb 20, 2020
GATAD134Feb 20, 2020
GATAD2B3Mar 19, 2024
GATM32Feb 20, 2020
GBA18Feb 3, 2026
GBE1131Feb 20, 2020
GCDH41Feb 20, 2020
GCH1137Apr 12, 2024
GCK232Feb 20, 2020
GCM251Feb 3, 2026
GCNT286Feb 20, 2020
GDAP1167Feb 20, 2020
GDF5195Feb 20, 2020
GDF5-AS195Feb 20, 2020
GDF679Feb 20, 2020
GDF92Feb 20, 2020
GDNF80Feb 20, 2020
GEMIN51Dec 16, 2021
GFAP14Apr 12, 2024
GFI11Nov 15, 2023
GFM166Feb 20, 2020
GFM22Feb 20, 2020
GFPT1159Jun 1, 2022
GGA241Feb 20, 2020
GGACT8Feb 20, 2020
GGCX181Feb 20, 2020
GH-LCR762Feb 3, 2026
GH144Feb 20, 2020
GHR89Feb 20, 2020
GHRHR47Feb 20, 2020
GHSR64Feb 20, 2020
GIGYF250Feb 20, 2020
GJA1168Feb 3, 2026
GJA3102Feb 20, 2020
GJA525Feb 20, 2020
GJA820Feb 20, 2020
GJB120Dec 16, 2021
GJB2188Aug 9, 2021
GJB367Feb 20, 2020
GJB653Feb 20, 2020
GJD2-DT152Apr 8, 2025
GLA11Sep 8, 2024
GLB1107Feb 3, 2026
GLDC112Feb 20, 2020
GLE1112Feb 20, 2020
GLI2141Dec 14, 2020
GLI3493Feb 20, 2020
GLIS2101Feb 20, 2020
GLIS3228Feb 20, 2020
GLIS3-AS18Feb 20, 2020
GLIS3-AS225Feb 20, 2020
GLMN37Feb 20, 2020
GLRA138Aug 9, 2021
GLRB60Feb 20, 2020
GLUD148Nov 6, 2023
GLUL115Feb 20, 2020
GM2A86Feb 20, 2020
GML13Feb 20, 2020
GNAI31Dec 14, 2020
GNAL1Feb 10, 2023
GNAO13Apr 12, 2024
GNAS4Nov 6, 2023
GNAT149Feb 20, 2020
GNAT226Feb 20, 2020
GNB11Jun 29, 2023
GNE124Apr 22, 2025
GNPAT61Feb 20, 2020
GNPTAB220Dec 14, 2022
GNPTG43Feb 20, 2020
GNRH117Feb 20, 2020
GNRHR101Feb 20, 2020
GNS79Feb 20, 2020
GORAB51Feb 20, 2020
GORAB-AS15Feb 20, 2020
GOSR24Feb 20, 2020
GP927Feb 20, 2020
GPC31Jun 1, 2022
GPC6121Feb 20, 2020
GPC6-AS22Feb 20, 2020
GPHN32Feb 20, 2020
GPKOW1Mar 19, 2024
GPLD18Feb 20, 2020
GPR179168Feb 20, 2020
GPR1918Feb 20, 2020
GPRASP11Oct 7, 2021
GPSM261Feb 20, 2020
GREB1L1Dec 14, 2020
GRHPR38Feb 20, 2020
GRIA21Jul 16, 2020
GRIA32Dec 16, 2021
GRIA42Dec 14, 2020
GRIN12Apr 22, 2025
GRIN2A277Feb 3, 2026
GRIN2B3Apr 22, 2025
GRIP182Feb 20, 2020
GRM51Oct 7, 2021
GRM5-AS11Oct 7, 2021
GRM71Feb 3, 2026
GRN52Feb 20, 2020
GRXCR123Feb 20, 2020
GSDME68Feb 20, 2020
GSN74Feb 20, 2020
GSS36Feb 20, 2020
GTF2H33Feb 20, 2020
GTF3C2-AS222Feb 10, 2023
GTPBP22Feb 20, 2020
GUCA1A56Feb 20, 2020
GUCA1ANB-GUCA1A39Feb 20, 2020
GUCA1B67Feb 20, 2020
GUSB45Feb 20, 2020
GYS172Feb 20, 2020
GYS270Feb 20, 2020
H1-41Mar 19, 2024
H3-3A2Mar 15, 2024
H3-3B2Apr 22, 2025
HABP294Feb 20, 2020
HADH87Feb 20, 2020
HADHA115Feb 20, 2020
HADHB41Feb 20, 2020
HAL99Feb 20, 2020
HAMP8Feb 20, 2020
HARS11Dec 18, 2020
HAX121Feb 20, 2020
HBB65Apr 22, 2025
HBD12Feb 20, 2020
HBP111Feb 20, 2020
HCFC12Apr 22, 2025
HCN310Feb 20, 2020
HCN482Feb 20, 2020
HDAC82Mar 19, 2024
HECW21Dec 14, 2020
HEPACAM73Feb 20, 2020
HEPN121Feb 20, 2020
HESX19Dec 20, 2021
HEXA9Dec 14, 2020
HEXB31Feb 3, 2026
HFE43Jun 29, 2023
HFE-AS110Jun 29, 2023
HGD47Feb 20, 2020
HGSNAT116Feb 20, 2020
HIBCH1Sep 19, 2023
HIGD2B4Feb 20, 2020
HIVEP22Mar 19, 2024
HJV45Feb 20, 2020
HLCS126Feb 20, 2020
HMBS43Apr 22, 2025
HMCN1387Feb 20, 2020
HMGCL29Feb 20, 2020
HMGCS240Feb 20, 2020
HNF1A70Dec 13, 2022
HNF1B53Feb 20, 2020
HNF4A227Feb 20, 2020
HNRNPH21Feb 10, 2023
HNRNPU3Mar 19, 2024
HNRNPUL2-BSCL273Feb 20, 2020
HOGA173Feb 20, 2020
HOXA121Feb 20, 2020
HOXA232Feb 20, 2020
HOXA31Feb 20, 2020
HOXB131Dec 14, 2020
HOXD1030Feb 20, 2020
HPD58Feb 20, 2020
HPGD109Feb 20, 2020
HPS1104Feb 20, 2020
HPS1-AS11Feb 20, 2020
HPS398Feb 20, 2020
HPS4106Feb 20, 2020
HPS5101Feb 20, 2020
HPS650Feb 20, 2020
HR321Feb 20, 2020
HRAS2Mar 19, 2024
HRC2Feb 20, 2020
HRURF26Feb 20, 2020
HSALR11Dec 14, 2020
HSD17B327Feb 13, 2025
HSD17B3-AS15Feb 20, 2020
HSD17B4121Dec 20, 2021
HSD3B233Feb 20, 2020
HSF452Feb 20, 2020
HSPB157Feb 3, 2026
HSPB316Feb 20, 2020
HSPB869Apr 12, 2024
HSPD139Feb 20, 2020
HSPG2915Feb 20, 2020
HTRA133Feb 20, 2020
HTRA1-AS121Feb 20, 2020
HTRA247Feb 20, 2020
HUWE15Mar 19, 2024
HYAL138Feb 20, 2020
HYCC1116Aug 9, 2021
HYDIN1Apr 22, 2025
ICOS52Feb 20, 2020
IDH3B37Feb 20, 2020
IDS2Nov 6, 2023
IDUA72Sep 19, 2023
IFIH14Apr 22, 2025
IFITM51Nov 6, 2023
IFNAR2-IL10RB32Feb 20, 2020
IFNG16Feb 20, 2020
IFNGR156Feb 20, 2020
IFT12287Feb 20, 2020
IFT140175Feb 20, 2020
IFT8083Feb 20, 2020
IFTAP6Feb 20, 2020
IGBP11Oct 7, 2021
IGF1121Feb 20, 2020
IGF1R370Feb 20, 2020
IGF21Dec 20, 2021
IGFALS70Feb 20, 2020
IGHMBP2136Apr 12, 2024
IHH55Feb 20, 2020
IKBKG4Feb 20, 2020
IL10RA93Feb 20, 2020
IL10RB32Feb 20, 2020
IL12B44Feb 20, 2020
IL12RB174Feb 20, 2020
IL17F18Feb 20, 2020
IL17RA193Feb 20, 2020
IL1RAPL124Feb 20, 2020
IL1RN44Feb 20, 2020
IL2RA85Feb 20, 2020
IL2RG10Feb 20, 2020
IL36RN63Feb 20, 2020
IL7R106Feb 20, 2020
IMPDH1147Feb 20, 2020
IMPG2148Feb 20, 2020
INF2125Dec 16, 2021
INPP5E75Feb 20, 2020
INS29Feb 20, 2020
INS-IGF230Dec 20, 2021
INSR602Feb 20, 2020
INTS12Dec 16, 2021
INVS64Feb 20, 2020
IQCB146Feb 20, 2020
IQSEC21Aug 9, 2021
IRAIN4Feb 20, 2020
IRAK479Feb 20, 2020
IRF6145Feb 20, 2020
ISCA21Oct 18, 2016
ITGA2171Feb 20, 2020
ITGA2-AS14Feb 20, 2020
ITGA2B73Feb 20, 2020
ITGA439Feb 20, 2020
ITGA6109Feb 20, 2020
ITGA6-AS159Feb 20, 2020
ITGB2126Feb 20, 2020
ITGB2-AS11Feb 20, 2020
ITGB390Feb 20, 2020
ITGB4179Feb 20, 2020
ITGBL139Feb 20, 2020
ITK85Feb 20, 2020
ITPA1Feb 20, 2020
ITPR1206Feb 10, 2023
IVD87Feb 20, 2020
JAG1128Feb 3, 2026
JAK3135Feb 20, 2020
JUP211Feb 20, 2020
KANSL119Apr 1, 2020
KAT542Feb 20, 2020
KAT6A4Mar 19, 2024
KATNB11Dec 16, 2021
KBTBD1375Feb 20, 2020
KCNA1154Apr 7, 2025
KCNA549Feb 20, 2020
KCNAB24Feb 20, 2020
KCNB12Mar 19, 2024
KCND21Oct 7, 2021
KCNE1184Feb 20, 2020
KCNE234Feb 20, 2020
KCNH11Apr 1, 2020
KCNH294Apr 7, 2025
KCNJ136Feb 20, 2020
KCNJ10185Feb 20, 2020
KCNJ11194Apr 22, 2025
KCNJ1350Feb 20, 2020
KCNJ2299Feb 20, 2020
KCNJ574Feb 20, 2020
KCNJ8-AS110Feb 20, 2020
KCNJ92Feb 20, 2020
KCNK93Dec 16, 2021
KCNMA1102Feb 20, 2020
KCNMA1-AS120Feb 20, 2020
KCNQ1403Feb 3, 2026
KCNQ1-AS1199Feb 10, 2023
KCNQ1OT126Apr 22, 2025
KCNQ27Apr 22, 2025
KCNQ3238Dec 16, 2021
KCNQ51Feb 3, 2026
KCNT14Feb 10, 2023
KCNV287Feb 20, 2020
KCTD7100Jun 1, 2022
KCTD93Feb 20, 2020
KDM4B1Jun 1, 2022
KDM5B1Feb 3, 2026
KDM5C2Aug 9, 2021
KDM6A1Jul 16, 2020
KDM6B1Aug 9, 2021
KDR1Mar 15, 2024
KHK76Feb 20, 2020
KIDINS2201Apr 22, 2025
KIF111Dec 14, 2020
KIF142Sep 19, 2023
KIF1A200Dec 20, 2021
KIF1B196Feb 20, 2020
KIF21A111Feb 10, 2023
KIF3C1Nov 15, 2023
KIF4A1Feb 10, 2023
KIF5A70Dec 13, 2022
KIF7133Jul 16, 2020
KIFBP41Feb 20, 2020
KIFC214Feb 20, 2020
KIR3DL11Feb 20, 2020
KIRREL214Feb 20, 2020
KISS1R1Mar 19, 2024
KIT257Feb 20, 2020
KL116Feb 20, 2020
KLC310Feb 20, 2020
KLF134Feb 20, 2020
KLF1199Feb 20, 2020
KLHL3114Feb 20, 2020
KLHL747Mar 19, 2024
KLKB1129Feb 20, 2020
KMT2A12Feb 3, 2026
KMT2B1Dec 16, 2021
KMT2C4Mar 19, 2024
KMT2D11Mar 19, 2024
KMT2E1Mar 19, 2024
KMT5B1Jul 16, 2020
KNL196Feb 20, 2020
KRAS2Feb 20, 2020
KRIT1169Dec 16, 2021
KRT178Nov 6, 2023
KRT1355Feb 20, 2020
KRT269Feb 20, 2020
KRT477Feb 20, 2020
KRT568Dec 14, 2020
KRT8374Feb 20, 2020
KRT971Feb 20, 2020
LALTOP54Feb 20, 2020
LAMA2261Feb 10, 2023
LAMA3244Feb 20, 2020
LAMB2232Feb 20, 2020
LAMB3148Feb 20, 2020
LAMC2148Feb 20, 2020
LAMC31Mar 19, 2024
LAMP287Feb 20, 2020
LARGE1198Feb 20, 2020
LBR85Feb 20, 2020
LCA5100Feb 20, 2020
LCAT22Feb 20, 2020
LCT76Feb 20, 2020
LDB342Dec 20, 2021
LDHA48Feb 20, 2020
LDHB26Feb 20, 2020
LDLR167Feb 3, 2026
LDLR-AS14Feb 20, 2020
LDLRAD2112Feb 20, 2020
LDLRAP183Feb 20, 2020
LEFTY241Feb 20, 2020
LEMD381Feb 20, 2020
LEP42Feb 20, 2020
LEPR54Feb 20, 2020
LEPROT4Feb 20, 2020
LGI119Feb 20, 2020
LHCGR104Feb 20, 2020
LHFPL568Feb 20, 2020
LHX369Feb 20, 2020
LHX446Feb 20, 2020
LHX4-AS119Feb 20, 2020
LIFR197Feb 20, 2020
LIFR-AS15Feb 20, 2020
LIG4157Feb 20, 2020
LIM235Feb 20, 2020
LIM2-AS120Feb 20, 2020
LINC02456121Feb 20, 2020
LIPA54Feb 20, 2020
LIPC52Feb 20, 2020
LIPT12Feb 10, 2023
LITAF61Feb 20, 2020
LLGL21Mar 19, 2024
LMAN191Feb 20, 2020
LMBR1111Feb 20, 2020
LMBRD139Feb 20, 2020
LMBRD21Oct 7, 2021
LMNA415Jun 29, 2023
LMNB143Feb 20, 2020
LMX1B181Feb 20, 2020
LOC10013074420Feb 20, 2020
LOC1001316261Feb 3, 2026
LOC10050734643Dec 14, 2020
LOC10050744324Feb 20, 2020
LOC10144820237Sep 19, 2023
LOC101927055120Feb 20, 2020
LOC10192715740Feb 20, 2020
LOC10192800830Feb 20, 2020
LOC10192927058Feb 20, 2020
LOC10192930518Feb 20, 2020
LOC10192971055Feb 20, 2020
LOC10272356614Feb 20, 2020
LOC102723716180Feb 20, 2020
LOC102724058135Nov 6, 2023
LOC10536914918Feb 20, 2020
LOC1053699374Feb 20, 2020
LOC1053708901Feb 20, 2020
LOC10537104653Feb 20, 2020
LOC105371566152Feb 13, 2025
LOC1053718561Feb 10, 2023
LOC10537279134Feb 20, 2020
LOC10537619628Feb 20, 2020
LOC1053783112Feb 20, 2020
LOC1053783535Feb 20, 2020
LOC10594358610Feb 20, 2020
LOC10601424918Feb 20, 2020
LOC1060501021Nov 6, 2023
LOC10609906239Apr 22, 2025
LOC1060990635Feb 20, 2020
LOC10656021122Feb 10, 2023
LOC1066279818Feb 3, 2026
LOC10672178510Feb 20, 2020
LOC10673661420Feb 20, 2020
LOC1067808001Dec 14, 2020
LOC1067808031Dec 14, 2020
LOC10679983379Feb 20, 2020
LOC106799834267Feb 20, 2020
LOC10713351065Apr 22, 2025
LOC1071812882Feb 20, 2020
LOC10730333878Dec 14, 2020
LOC107303340114Feb 20, 2020
LOC10730334313Feb 20, 2020
LOC1074575852Feb 20, 2020
LOC10754811210Feb 20, 2020
LOC1078821263Feb 20, 2020
LOC1079639508Feb 20, 2020
LOC10798044512Feb 20, 2020
LOC10798223490Feb 20, 2020
LOC1079868456Feb 20, 2020
LOC1079880232Feb 20, 2020
LOC1079880306Feb 20, 2020
LOC1081673154Feb 20, 2020
LOC1082811102Feb 20, 2020
LOC1082811112Feb 20, 2020
LOC1082811657Feb 20, 2020
LOC1082811771Mar 19, 2024
LOC1086639846Mar 19, 2024
LOC1088636206Feb 20, 2020
LOC10890314816Feb 20, 2020
LOC1089649332Feb 20, 2020
LOC1090295302Feb 20, 2020
LOC1092865641Feb 20, 2020
LOC1094336777Feb 20, 2020
LOC10946147640Feb 20, 2020
LOC1096106311Dec 14, 2020
LOC1096115893Feb 20, 2020
LOC1096115932Feb 20, 2020
LOC11000631926Feb 20, 2020
LOC11001121614Feb 20, 2020
LOC110121269101Feb 20, 2020
LOC1101214713Feb 20, 2020
LOC1101214865Dec 20, 2021
LOC1103869471Feb 20, 2020
LOC1103869512Feb 20, 2020
LOC1104087624Feb 20, 2020
LOC1108062622Feb 20, 2020
LOC1108062636Feb 20, 2020
LOC11116262015Feb 20, 2020
LOC1111881524Feb 20, 2020
LOC1111881544Feb 20, 2020
LOC1111881567Feb 20, 2020
LOC1114130294Feb 20, 2020
LOC1115892156Feb 20, 2020
LOC1116744632Feb 20, 2020
LOC11167447211Feb 20, 2020
LOC1116744755Feb 20, 2020
LOC1116744775Feb 20, 2020
LOC11181196560Feb 20, 2020
LOC1118326711Feb 20, 2020
LOC11198286910Feb 20, 2020
LOC1119828764Feb 20, 2020
LOC1120814132Feb 20, 2020
LOC1122726211Feb 20, 2020
LOC1124497134Feb 20, 2020
LOC1124690074Feb 20, 2020
LOC1124862239Feb 20, 2020
LOC11252989518Feb 20, 2020
LOC1125336713Feb 20, 2020
LOC1125336729Feb 20, 2020
LOC11255217510Feb 20, 2020
LOC1126950896Feb 20, 2020
LOC1126950922Feb 20, 2020
LOC1128060372Feb 20, 2020
LOC1128060777Feb 20, 2020
LOC1128409218Feb 20, 2020
LOC1128416085Feb 20, 2020
LOC1128722992Feb 20, 2020
LOC1129038395Feb 20, 2020
LOC1129975558Feb 20, 2020
LOC1129975838Feb 20, 2020
LOC1136871755Feb 20, 2020
LOC1137483843Feb 20, 2020
LOC11374841626Feb 20, 2020
LOC1137838762Feb 20, 2020
LOC1137882699Feb 20, 2020
LOC1138395408Feb 20, 2020
LOC1138395464Feb 20, 2020
LOC1138457881Nov 15, 2023
LOC11393994414Feb 20, 2020
LOC1140043904Feb 20, 2020
LOC1148034753Feb 20, 2020
LOC1148278221Feb 20, 2020
LOC1148278507Feb 20, 2020
LOC1170387956Feb 20, 2020
LOC1171255914Feb 20, 2020
LOC1171255922Feb 20, 2020
LOC1171255948Feb 20, 2020
LOC1208931167Feb 20, 2020
LOC1209770134Feb 20, 2020
LOC1210487211Feb 20, 2020
LOC1213313316Feb 20, 2020
LOC1213313402Feb 20, 2020
LOC1213928873Feb 20, 2020
LOC1215876015Feb 20, 2020
LOC1216278321Feb 20, 2020
LOC1216278764Feb 20, 2020
LOC1216279501Feb 20, 2020
LOC1217250462Feb 20, 2020
LOC1218159741Feb 20, 2020
LOC1218529371Feb 20, 2020
LOC1218529921Feb 20, 2020
LOC1218530331Feb 20, 2020
LOC12185304011Feb 20, 2020
LOC1220948444Feb 20, 2020
LOC1220949102Feb 20, 2020
LOC12215229613Feb 20, 2020
LOC1221523216Feb 20, 2020
LOC1227563821Feb 20, 2020
LOC1227871371Feb 20, 2020
LOC1228191507Feb 20, 2020
LOC1229653274Feb 20, 2020
LOC12386406510Feb 20, 2020
LOC1239562108Feb 20, 2020
LOC1239562419Feb 20, 2020
LOC1239562572Feb 20, 2020
LOC12415315414Feb 20, 2020
LOC1243106078Feb 20, 2020
LOC1246258624Feb 20, 2020
LOC12507804012Feb 20, 2020
LOC1251773349Feb 20, 2020
LOC1251774891Feb 20, 2020
LOC1254180605Feb 20, 2020
LOC1254462611Feb 20, 2020
LOC1266533301Feb 20, 2020
LOC1268055987Feb 20, 2020
LOC1268056142Feb 20, 2020
LOC1268056164Feb 20, 2020
LOC12680565526Feb 20, 2020
LOC1268056617Feb 20, 2020
LOC1268056882Feb 20, 2020
LOC1268057331Feb 20, 2020
LOC1268057935Feb 20, 2020
LOC1268057947Feb 20, 2020
LOC1268058148Feb 20, 2020
LOC1268058584Feb 20, 2020
LOC1268058745Feb 20, 2020
LOC12680587730Feb 20, 2020
LOC1268058904Feb 20, 2020
LOC12680591611Feb 20, 2020
LOC1268059443Feb 20, 2020
LOC12680594815Feb 20, 2020
LOC1268059531Feb 20, 2020
LOC1268059994Feb 20, 2020
LOC1268060601Feb 20, 2020
LOC1268060633Feb 20, 2020
LOC12680606711Feb 20, 2020
LOC12680606820Feb 20, 2020
LOC1268061046Feb 20, 2020
LOC1268061472Feb 20, 2020
LOC1268062107Feb 20, 2020
LOC1268062111Sep 19, 2023
LOC1268062723Feb 20, 2020
LOC1268063164Feb 20, 2020
LOC1268063538Feb 20, 2020
LOC12680636816Feb 20, 2020
LOC1268063736Feb 20, 2020
LOC1268064003Feb 20, 2020
LOC1268064105Feb 20, 2020
LOC12680642045Feb 20, 2020
LOC12680642160Feb 20, 2020
LOC12680642275Feb 20, 2020
LOC12680642371Apr 22, 2025
LOC12680642467Feb 20, 2020
LOC126806425106Dec 16, 2021
LOC12680642660Feb 20, 2020
LOC12680642765Feb 20, 2020
LOC12680642851Mar 19, 2024
LOC12680642940Feb 20, 2020
LOC126806430110Feb 20, 2020
LOC12680643155Feb 20, 2020
LOC12680643340Feb 20, 2020
LOC1268064461Feb 20, 2020
LOC1268064621Mar 19, 2024
LOC1268064841Feb 20, 2020
LOC12680652912Feb 20, 2020
LOC1268065738Feb 20, 2020
LOC1268065834Feb 20, 2020
LOC1268065905Feb 20, 2020
LOC1268066303Feb 20, 2020
LOC1268066592Dec 13, 2022
LOC1268067277Feb 20, 2020
LOC1268067912Feb 20, 2020
LOC1268068073Feb 20, 2020
LOC1268068104Feb 20, 2020
LOC1268068306Feb 20, 2020
LOC1268068781Nov 6, 2023
LOC1268069132Feb 20, 2020
LOC12680696112Feb 20, 2020
LOC1268069621Feb 20, 2020
LOC1268070734Feb 20, 2020
LOC1268070887Feb 20, 2020
LOC1268070892Feb 20, 2020
LOC1268071243Feb 20, 2020
LOC12680713411Feb 20, 2020
LOC12680713619Feb 20, 2020
LOC12680713720Feb 20, 2020
LOC1268073184Feb 20, 2020
LOC12680750110Feb 20, 2020
LOC1268075095Feb 20, 2020
LOC1268075194Feb 20, 2020
LOC1268075266Feb 20, 2020
LOC12680754640Feb 20, 2020
LOC1268076191Nov 6, 2023
LOC12685965312Feb 20, 2020
LOC1268596908Feb 20, 2020
LOC1268597844Feb 20, 2020
LOC1268598271Dec 13, 2022
LOC1268598364Feb 20, 2020
LOC12685983712Feb 20, 2020
LOC1268598384Feb 20, 2020
LOC1268598714Feb 20, 2020
LOC1268599613Feb 20, 2020
LOC1268600551Feb 20, 2020
LOC12686007510Feb 20, 2020
LOC1268601306Feb 20, 2020
LOC1268601313Feb 20, 2020
LOC12686020211Feb 20, 2020
LOC1268602162Feb 20, 2020
LOC1268603028Feb 20, 2020
LOC1268603037Feb 20, 2020
LOC1268603421Feb 20, 2020
LOC1268603686Feb 20, 2020
LOC1268603692Feb 20, 2020
LOC12686039221Feb 3, 2026
LOC1268604039Feb 20, 2020
LOC1268604384Feb 20, 2020
LOC1268604986Feb 20, 2020
LOC1268605313Feb 20, 2020
LOC1268605524Feb 20, 2020
LOC1268605829Feb 20, 2020
LOC1268606944Feb 20, 2020
LOC1268607822Feb 20, 2020
LOC1268607838Feb 20, 2020
LOC1268607941Aug 9, 2021
LOC1268608712Feb 20, 2020
LOC12686093318Feb 20, 2020
LOC12686096015Feb 20, 2020
LOC1268609704Feb 20, 2020
LOC1268609715Feb 20, 2020
LOC12686098029Feb 20, 2020
LOC1268610126Feb 20, 2020
LOC1268610134Feb 20, 2020
LOC1268610252Feb 20, 2020
LOC1268611106Feb 20, 2020
LOC12686115212Feb 20, 2020
LOC1268612012Feb 20, 2020
LOC1268612058Feb 20, 2020
LOC12686124220Feb 20, 2020
LOC1268612454Feb 20, 2020
LOC1268613188Feb 20, 2020
LOC1268613585Feb 20, 2020
LOC1268613608Feb 20, 2020
LOC12686136526Feb 20, 2020
LOC12686146512Feb 20, 2020
LOC1268614803Feb 20, 2020
LOC1268615201Aug 9, 2021
LOC1268615258Dec 14, 2020
LOC1268615269Feb 20, 2020
LOC1268616153Feb 20, 2020
LOC1268616376Feb 20, 2020
LOC1268616382Feb 20, 2020
LOC1268616624Feb 20, 2020
LOC12686166412Feb 20, 2020
LOC1268616664Feb 20, 2020
LOC1268617523Feb 20, 2020
LOC1268617537Feb 20, 2020
LOC12686183413Feb 20, 2020
LOC1268618562Feb 20, 2020
LOC12686189749Feb 3, 2026
LOC12686189824Apr 7, 2025
LOC12686201912Feb 20, 2020
LOC12686206014Feb 20, 2020
LOC1268620885Feb 20, 2020
LOC1268620971Feb 20, 2020
LOC1268621152Feb 20, 2020
LOC1268621233Feb 20, 2020
LOC12686212442Jul 16, 2020
LOC1268621731Feb 20, 2020
LOC1268622169Feb 20, 2020
LOC12686226010Feb 20, 2020
LOC12686226413Nov 6, 2023
LOC12686236111Feb 20, 2020
LOC12686239018Feb 20, 2020
LOC1268624222Feb 20, 2020
LOC1268624478Feb 20, 2020
LOC1268624833Feb 20, 2020
LOC1268624859Feb 20, 2020
LOC1268624937Feb 20, 2020
LOC12686249415Feb 20, 2020
LOC1268625004Feb 20, 2020
LOC1268625013Feb 20, 2020
LOC1268625492Feb 20, 2020
LOC1268625684Feb 20, 2020
LOC12686257113Apr 28, 2025
LOC12686258612Feb 20, 2020
LOC1268626063Feb 20, 2020
LOC1268626111Apr 1, 2020
LOC1268626348Feb 20, 2020
LOC12686270710Feb 20, 2020
LOC1268627453Feb 20, 2020
LOC1268627461Feb 20, 2020
LOC1268627573Feb 20, 2020
LOC1268627612Feb 20, 2020
LOC1268628533Feb 20, 2020
LOC1268628607Feb 20, 2020
LOC1268628641Mar 19, 2024
LOC12686290233Feb 20, 2020
LOC1268629875Feb 20, 2020
LOC1268630081Feb 20, 2020
LOC1268630147Feb 20, 2020
LOC1268630892Feb 20, 2020
LOC1268630903Feb 20, 2020
LOC1268630943Feb 20, 2020
LOC12686313710Feb 20, 2020
LOC1268631581Mar 19, 2024
LOC12686316024Feb 20, 2020
LOC1268632122Aug 9, 2021
LOC1268632391Aug 9, 2021
LOC1268632531Feb 20, 2020
LOC1268632561Nov 15, 2023
LOC1268632584Feb 20, 2020
LOC1268632743Feb 20, 2020
LOC1278934505Feb 20, 2020
LOC1280922492Feb 20, 2020
LOC1284623843Feb 20, 2020
LOC12870666530Feb 20, 2020
LOC12870666630Feb 20, 2020
LOC12877225411Feb 20, 2020
LOC1288971707Feb 20, 2020
LOC1293884473Feb 20, 2020
LOC1293885773Feb 20, 2020
LOC1293886653Feb 20, 2020
LOC1293888571Feb 20, 2020
LOC1293891442Feb 20, 2020
LOC1293892746Feb 20, 2020
LOC1293897571Feb 20, 2020
LOC1293898371Feb 20, 2020
LOC1293901432Feb 20, 2020
LOC1293902291Feb 20, 2020
LOC1293906831Jun 1, 2022
LOC1293909032Feb 20, 2020
LOC12939104715Feb 20, 2020
LOC1293910643Feb 20, 2020
LOC1293911064Feb 20, 2020
LOC1293911504Feb 20, 2020
LOC1293912593Feb 20, 2020
LOC1293912806Feb 20, 2020
LOC1299292138Feb 20, 2020
LOC1299293631Feb 20, 2020
LOC1299293651Feb 20, 2020
LOC1299294003Feb 20, 2020
LOC1299294013Feb 20, 2020
LOC12992942311Feb 20, 2020
LOC1299294264Feb 20, 2020
LOC1299295404Feb 20, 2020
LOC1299295424Feb 20, 2020
LOC1299295504Feb 20, 2020
LOC1299296731Feb 20, 2020
LOC1299296824Feb 20, 2020
LOC1299296851Feb 20, 2020
LOC12992977315Feb 20, 2020
LOC1299302536Feb 20, 2020
LOC1299302611Feb 20, 2020
LOC1299303692Feb 20, 2020
LOC1299304294Feb 20, 2020
LOC1299304331Feb 20, 2020
LOC1299304463Aug 9, 2021
LOC1299304714Feb 20, 2020
LOC1299305616Feb 20, 2020
LOC1299305961Feb 20, 2020
LOC1299306652Feb 20, 2020
LOC1299306683Feb 20, 2020
LOC1299306691Feb 20, 2020
LOC1299307562Feb 20, 2020
LOC1299309985Feb 20, 2020
LOC1299310211Feb 20, 2020
LOC12993108313Feb 20, 2020
LOC12993121814Feb 20, 2020
LOC1299312492Feb 20, 2020
LOC1299314102Feb 20, 2020
LOC1299314115Feb 20, 2020
LOC1299314983Feb 20, 2020
LOC1299315122Feb 20, 2020
LOC1299315134Feb 20, 2020
LOC1299315979Feb 20, 2020
LOC1299316481Feb 20, 2020
LOC1299317614Feb 20, 2020
LOC1299318944Feb 20, 2020
LOC12993205718Feb 20, 2020
LOC1299320842Feb 20, 2020
LOC1299321554Feb 20, 2020
LOC1299324053Feb 20, 2020
LOC1299324851Feb 20, 2020
LOC1299324864Feb 20, 2020
LOC1299326782Feb 20, 2020
LOC1299326811Feb 20, 2020
LOC1299326821Feb 20, 2020
LOC1299327673Feb 20, 2020
LOC1299327691Feb 20, 2020
LOC1299328567Feb 20, 2020
LOC12993288514Feb 20, 2020
LOC1299328862Feb 20, 2020
LOC1299331275Feb 20, 2020
LOC1299331862Feb 20, 2020
LOC1299332802Feb 20, 2020
LOC1299333341Feb 20, 2020
LOC1299333361Feb 20, 2020
LOC1299333581Feb 20, 2020
LOC1299333762Feb 20, 2020
LOC1299333779Feb 20, 2020
LOC1299335352Feb 20, 2020
LOC12993365512Feb 20, 2020
LOC1299336752Feb 20, 2020
LOC1299337063Feb 20, 2020
LOC1299337071Feb 20, 2020
LOC1299338433Feb 20, 2020
LOC1299340046Feb 20, 2020
LOC1299340493Feb 20, 2020
LOC1299340697Feb 20, 2020
LOC1299340963Feb 20, 2020
LOC1299341402Feb 20, 2020
LOC1299341431Feb 20, 2020
LOC1299342173Feb 20, 2020
LOC1299342369Feb 20, 2020
LOC1299342775Feb 20, 2020
LOC1299343337Feb 20, 2020
LOC1299349256Feb 20, 2020
LOC1299349417Feb 20, 2020
LOC1299350462Feb 20, 2020
LOC1299350832Feb 20, 2020
LOC1299351511Feb 20, 2020
LOC1299351729Feb 20, 2020
LOC12993518210Feb 20, 2020
LOC12993518356Sep 19, 2023
LOC12993518425Feb 20, 2020
LOC1299351855Feb 20, 2020
LOC1299351865Feb 20, 2020
LOC1299352142Feb 20, 2020
LOC1299352156Feb 20, 2020
LOC1299352772Feb 20, 2020
LOC1299352784Feb 20, 2020
LOC1299352794Feb 20, 2020
LOC1299353585Feb 20, 2020
LOC1299354176Feb 20, 2020
LOC1299354196Feb 20, 2020
LOC1299354322Feb 20, 2020
LOC1299354341Feb 20, 2020
LOC12993547320Feb 20, 2020
LOC1299354798Feb 20, 2020
LOC1299355183Feb 20, 2020
LOC1299355446Feb 20, 2020
LOC1299355942Feb 20, 2020
LOC1299356096Feb 20, 2020
LOC1299356196Feb 20, 2020
LOC1299356253Feb 20, 2020
LOC1299356601Feb 20, 2020
LOC1299357093Feb 20, 2020
LOC1299357307Feb 20, 2020
LOC1299358542Feb 20, 2020
LOC12993603114Feb 20, 2020
LOC1299360321Feb 20, 2020
LOC1299360331Feb 20, 2020
LOC1299360565Feb 20, 2020
LOC1299360594Feb 20, 2020
LOC12993617120Feb 20, 2020
LOC12993624412Feb 20, 2020
LOC1299363994Feb 20, 2020
LOC12993643414Feb 20, 2020
LOC1299364366Feb 20, 2020
LOC1299364863Feb 20, 2020
LOC1299365104Feb 20, 2020
LOC1299365797Feb 20, 2020
LOC1299366524Feb 20, 2020
LOC1299367292Feb 20, 2020
LOC1299367301Feb 20, 2020
LOC1299367312Feb 20, 2020
LOC1299367382Feb 20, 2020
LOC1299368836Feb 20, 2020
LOC1299369355Feb 20, 2020
LOC1299369494Feb 20, 2020
LOC1299370851Feb 20, 2020
LOC1299370863Feb 20, 2020
LOC12993712121Feb 20, 2020
LOC1299374019Feb 20, 2020
LOC1299375171Feb 20, 2020
LOC1299375523Feb 20, 2020
LOC12993758618Feb 20, 2020
LOC1299375911Feb 20, 2020
LOC1299377031Feb 20, 2020
LOC1299378573Feb 20, 2020
LOC1299380084Feb 20, 2020
LOC1299380413Feb 20, 2020
LOC1299920721Feb 20, 2020
LOC1299920732Feb 20, 2020
LOC1299921371Jun 1, 2022
LOC1299921444Feb 20, 2020
LOC1299921482Feb 20, 2020
LOC12999216620Feb 20, 2020
LOC1299922441Feb 20, 2020
LOC1299923044Mar 19, 2024
LOC12999258510Feb 20, 2020
LOC1299926133Feb 20, 2020
LOC1299926257Feb 20, 2020
LOC1299926681Feb 20, 2020
LOC1299927372Feb 20, 2020
LOC1299927382Feb 20, 2020
LOC12999281325Feb 20, 2020
LOC1299928863Feb 20, 2020
LOC12999293118Feb 20, 2020
LOC1299929591Feb 20, 2020
LOC1299930362Feb 20, 2020
LOC1299931092Feb 20, 2020
LOC1299931101Feb 20, 2020
LOC1299931635Feb 20, 2020
LOC1299932155Feb 20, 2020
LOC1299933661Feb 20, 2020
LOC1299933672Feb 20, 2020
LOC1299935014Feb 20, 2020
LOC12999352620Feb 20, 2020
LOC1299936318Feb 20, 2020
LOC1299937252Feb 20, 2020
LOC1299937349Feb 20, 2020
LOC1299938163Feb 20, 2020
LOC1299938815Feb 20, 2020
LOC12999388516Feb 20, 2020
LOC1299939391Feb 20, 2020
LOC1299941265Apr 22, 2025
LOC1299944601Feb 1, 2019
LOC1299945031Feb 20, 2020
LOC1299945699Feb 20, 2020
LOC1299947515Feb 20, 2020
LOC1299947551Feb 20, 2020
LOC1299949182Feb 20, 2020
LOC1299949247Feb 20, 2020
LOC12999497635Feb 20, 2020
LOC1299950433Feb 20, 2020
LOC1299951171Feb 20, 2020
LOC1299951245Feb 20, 2020
LOC1299954494Feb 20, 2020
LOC12999597811Feb 20, 2020
LOC12999624519Feb 20, 2020
LOC1299962603Feb 20, 2020
LOC1299964878Feb 20, 2020
LOC1299965175Feb 20, 2020
LOC1299965204Feb 20, 2020
LOC12999652110Feb 20, 2020
LOC12999660410Feb 20, 2020
LOC1299967072Feb 20, 2020
LOC1299967081Feb 20, 2020
LOC1299967278Feb 20, 2020
LOC1299968572Feb 20, 2020
LOC1299969336Feb 20, 2020
LOC1299970512Feb 20, 2020
LOC1299970521Feb 20, 2020
LOC1299973663Feb 20, 2020
LOC1299973811Feb 10, 2023
LOC1299974808Feb 20, 2020
LOC1299976758Feb 20, 2020
LOC1299978612Feb 20, 2020
LOC12999786410Feb 20, 2020
LOC1299978651Feb 20, 2020
LOC1299980053Feb 20, 2020
LOC1299980623Feb 20, 2020
LOC1299980981Feb 20, 2020
LOC1299981042Feb 20, 2020
LOC1299982252Feb 20, 2020
LOC1299982283Feb 20, 2020
LOC1299982921Jun 29, 2023
LOC1299983413Feb 20, 2020
LOC1299983423Feb 20, 2020
LOC1299983434Feb 20, 2020
LOC1299983951Feb 3, 2026
LOC1299984953Feb 20, 2020
LOC1299985251Feb 20, 2020
LOC12999853316Feb 20, 2020
LOC1299986809Feb 20, 2020
LOC1299987564Feb 20, 2020
LOC1299987572Feb 20, 2020
LOC1299987967Feb 20, 2020
LOC12999883310Feb 20, 2020
LOC1299991211Feb 20, 2020
LOC12999925818Feb 20, 2020
LOC1299995072Feb 20, 2020
LOC1299996604Feb 20, 2020
LOC1299997278Feb 20, 2020
LOC1299999406Feb 20, 2020
LOC1299999763Feb 20, 2020
LOC1300000934Feb 20, 2020
LOC1300001773Feb 20, 2020
LOC13000023212Feb 20, 2020
LOC13000023316Feb 20, 2020
LOC1300002612Feb 20, 2020
LOC1300002864Feb 20, 2020
LOC13000030311Feb 20, 2020
LOC1300003165Feb 20, 2020
LOC1300003387Feb 20, 2020
LOC13000043311Feb 20, 2020
LOC1300005071Feb 20, 2020
LOC1300005083Feb 20, 2020
LOC1300006141Feb 20, 2020
LOC13000078410Feb 20, 2020
LOC1300008962Feb 20, 2020
LOC13000089712Feb 20, 2020
LOC1300010027Feb 20, 2020
LOC1300010922Feb 20, 2020
LOC1300010933Feb 20, 2020
LOC1300012138Feb 20, 2020
LOC1300013973Feb 20, 2020
LOC1300014362Feb 20, 2020
LOC1300014372Feb 20, 2020
LOC1300014611Feb 20, 2020
LOC1300014683Feb 20, 2020
LOC1300014711Feb 20, 2020
LOC1300014825Feb 20, 2020
LOC1300015392Feb 20, 2020
LOC1300016831Feb 20, 2020
LOC1300016943Feb 20, 2020
LOC1300017493Feb 20, 2020
LOC1300020594Feb 20, 2020
LOC13000213318Feb 20, 2020
LOC1300022232Feb 20, 2020
LOC1300022512Feb 20, 2020
LOC1300022742Feb 20, 2020
LOC1300022752Feb 20, 2020
LOC1300024191Feb 20, 2020
LOC1300026483Feb 20, 2020
LOC1300026511Dec 14, 2020
LOC1300026758Feb 20, 2020
LOC1300027106Feb 20, 2020
LOC1300027724Feb 20, 2020
LOC1300028098Feb 20, 2020
LOC1300028991Feb 20, 2020
LOC1300029103Feb 20, 2020
LOC1300030023Feb 20, 2020
LOC1300030783Feb 20, 2020
LOC1300030795Feb 20, 2020
LOC1300032782Feb 20, 2020
LOC13000337024Feb 20, 2020
LOC1300033741Feb 20, 2020
LOC13000355411Feb 20, 2020
LOC1300035643Feb 20, 2020
LOC1300035651Feb 20, 2020
LOC13000380618Feb 20, 2020
LOC1300039597Feb 20, 2020
LOC1300040202Feb 20, 2020
LOC1300040253Feb 20, 2020
LOC1300041049Feb 20, 2020
LOC1300041094Feb 20, 2020
LOC1300041432Feb 20, 2020
LOC13000414412Feb 20, 2020
LOC1300042162Feb 20, 2020
LOC1300042431Feb 20, 2020
LOC1300042459Feb 20, 2020
LOC1300042541Feb 20, 2020
LOC1300042552Feb 20, 2020
LOC1300043811Feb 20, 2020
LOC1300044764Feb 20, 2020
LOC1300044862Feb 20, 2020
LOC1300044941Feb 20, 2020
LOC1300045061Feb 20, 2020
LOC13000456310Feb 20, 2020
LOC1300045787Feb 20, 2020
LOC13000461412Feb 20, 2020
LOC1300046281Feb 20, 2020
LOC1300047556Feb 20, 2020
LOC13000509711Feb 20, 2020
LOC1300051197Feb 20, 2020
LOC1300051935Feb 20, 2020
LOC1300053038Feb 20, 2020
LOC1300054041Feb 20, 2020
LOC1300054411Feb 20, 2020
LOC1300054435Feb 20, 2020
LOC13000554711Feb 20, 2020
LOC1300055481Feb 20, 2020
LOC13000554910Feb 20, 2020
LOC1300055989Feb 20, 2020
LOC1300056254Feb 20, 2020
LOC1300056633Feb 20, 2020
LOC1300056644Feb 20, 2020
LOC1300060611Feb 20, 2020
LOC1300060622Feb 20, 2020
LOC1300060894Feb 20, 2020
LOC1300060902Feb 20, 2020
LOC1300061473Feb 20, 2020
LOC1300062012Feb 20, 2020
LOC1300062021Feb 20, 2020
LOC1300062066Feb 20, 2020
LOC13000621712Feb 20, 2020
LOC1300065061Feb 10, 2023
LOC1300065513Feb 20, 2020
LOC1300065611Feb 20, 2020
LOC1300065624Feb 20, 2020
LOC13000657219Feb 20, 2020
LOC1300067005Feb 20, 2020
LOC1300067522Feb 20, 2020
LOC1300068334Feb 20, 2020
LOC1300068833Feb 20, 2020
LOC1300068948Feb 20, 2020
LOC1300068951Feb 20, 2020
LOC1300070062Feb 20, 2020
LOC1300070222Feb 20, 2020
LOC1300070264Feb 20, 2020
LOC1300072183Feb 20, 2020
LOC1300072323Feb 20, 2020
LOC1300072335Feb 20, 2020
LOC1300074571Feb 20, 2020
LOC1300074582Feb 20, 2020
LOC1300076646Feb 20, 2020
LOC1300076731Feb 20, 2020
LOC1300076883Feb 20, 2020
LOC1300077125Feb 20, 2020
LOC1300077842Feb 20, 2020
LOC1300079731Feb 20, 2020
LOC1300081481Feb 20, 2020
LOC1300082247Feb 20, 2020
LOC1300082254Feb 20, 2020
LOC1300085556Feb 20, 2020
LOC1300087121Feb 20, 2020
LOC13000873812Feb 20, 2020
LOC1300087551Feb 20, 2020
LOC13000901312Feb 20, 2020
LOC1300091154Feb 20, 2020
LOC1300091178Feb 20, 2020
LOC1300093666Feb 20, 2020
LOC1300095144Feb 20, 2020
LOC1300095391Feb 20, 2020
LOC1300095691Feb 20, 2020
LOC13000957310Feb 20, 2020
LOC1300095742Feb 20, 2020
LOC1300095881Feb 20, 2020
LOC1300096162Feb 20, 2020
LOC13000966219Feb 20, 2020
LOC1300097474Feb 20, 2020
LOC13000980910Feb 20, 2020
LOC1300098102Jun 29, 2023
LOC1300098414Feb 20, 2020
LOC1300099135Feb 20, 2020
LOC1300552694Feb 20, 2020
LOC1300552702Feb 20, 2020
LOC1300553231Feb 20, 2020
LOC1300553241Feb 20, 2020
LOC1300553873Feb 20, 2020
LOC1300554034Feb 20, 2020
LOC13005540422Feb 20, 2020
LOC1300554942Feb 20, 2020
LOC1300554975Feb 20, 2020
LOC1300555398Feb 20, 2020
LOC1300555411Feb 20, 2020
LOC1300555427Feb 20, 2020
LOC13005569222Feb 20, 2020
LOC1300557664Feb 20, 2020
LOC1300558169Feb 20, 2020
LOC1300558509Feb 20, 2020
LOC13005617710Feb 20, 2020
LOC1300562173Feb 20, 2020
LOC13005622614Feb 20, 2020
LOC1300563587Feb 20, 2020
LOC1300564071Feb 20, 2020
LOC1300565022Feb 20, 2020
LOC1300566273Feb 20, 2020
LOC1300567096Feb 20, 2020
LOC1300567503Feb 20, 2020
LOC1300567882Feb 20, 2020
LOC1300567892Feb 20, 2020
LOC1300569211Feb 20, 2020
LOC13005693112Feb 20, 2020
LOC1300569334Feb 20, 2020
LOC1300569731Feb 20, 2020
LOC1300569913Feb 20, 2020
LOC13005701914Feb 20, 2020
LOC13005702031Feb 20, 2020
LOC1300573526Feb 20, 2020
LOC1300576512Feb 20, 2020
LOC1300577342Feb 20, 2020
LOC1300578911Feb 20, 2020
LOC1300580374Feb 20, 2020
LOC1300581588Feb 20, 2020
LOC1300581669Feb 20, 2020
LOC1300581831Sep 19, 2023
LOC1300582103Feb 20, 2020
LOC1300582309Feb 20, 2020
LOC1300582451Feb 20, 2020
LOC1300583474Feb 20, 2020
LOC1300584424Feb 20, 2020
LOC1300585438Feb 20, 2020
LOC1300585871Jun 29, 2023
LOC1300586583Feb 20, 2020
LOC1300586641Feb 20, 2020
LOC1300587358Feb 20, 2020
LOC1300588645Feb 20, 2020
LOC1300589071Feb 1, 2019
LOC1300589473Feb 20, 2020
LOC1300590159Feb 20, 2020
LOC1300590359Feb 20, 2020
LOC1300590642Feb 20, 2020
LOC1300591563Feb 20, 2020
LOC1300592541Feb 20, 2020
LOC1300592904Feb 20, 2020
LOC1300593045Feb 20, 2020
LOC1300593051Feb 20, 2020
LOC1300593061Feb 20, 2020
LOC1300593931Feb 20, 2020
LOC1300593941Feb 20, 2020
LOC1300594342Feb 20, 2020
LOC1300594972Feb 20, 2020
LOC1300594988Feb 20, 2020
LOC1300595546Feb 20, 2020
LOC1300595553Feb 20, 2020
LOC1300595662Feb 20, 2020
LOC1300597182Feb 20, 2020
LOC13005976210Feb 20, 2020
LOC1300598186Feb 20, 2020
LOC1300598372Feb 20, 2020
LOC1300598913Feb 20, 2020
LOC1300598922Feb 20, 2020
LOC13005998020Feb 20, 2020
LOC1300599812Feb 20, 2020
LOC1300600402Feb 20, 2020
LOC1300600416Feb 20, 2020
LOC1300600851Feb 20, 2020
LOC1300600862Feb 20, 2020
LOC1300601134Feb 20, 2020
LOC1300601472Feb 20, 2020
LOC1300601732Feb 20, 2020
LOC1300601951Feb 20, 2020
LOC1300601983Feb 20, 2020
LOC1300603032Feb 20, 2020
LOC1300603116Feb 20, 2020
LOC1300603122Feb 20, 2020
LOC1300604115Feb 20, 2020
LOC1300604161Feb 20, 2020
LOC1300604553Feb 20, 2020
LOC1300604661Feb 20, 2020
LOC1300605482Feb 20, 2020
LOC1300605503Feb 20, 2020
LOC1300605557Feb 20, 2020
LOC1300605731Feb 20, 2020
LOC1300608478Feb 20, 2020
LOC1300608881Feb 20, 2020
LOC1300608922Feb 20, 2020
LOC1300609033Feb 10, 2023
LOC1300609594Feb 20, 2020
LOC1300609941Aug 9, 2021
LOC1300610413Feb 20, 2020
LOC13006127114Feb 20, 2020
LOC1300613102Feb 20, 2020
LOC1300613832Feb 20, 2020
LOC1300615399Feb 20, 2020
LOC1300615765Feb 20, 2020
LOC1300615773Feb 20, 2020
LOC1300616831Feb 20, 2020
LOC1300616905Feb 20, 2020
LOC1300618675Feb 20, 2020
LOC1300618974Feb 20, 2020
LOC1300619001Feb 20, 2020
LOC1300619911Feb 20, 2020
LOC1300621455Feb 20, 2020
LOC13006234012Feb 20, 2020
LOC1300624879Feb 20, 2020
LOC1300626014Feb 20, 2020
LOC1300626075Feb 20, 2020
LOC13006262810Feb 20, 2020
LOC1300627261Mar 19, 2024
LOC1300628531Mar 19, 2024
LOC1300628951Feb 20, 2020
LOC1300628992Feb 20, 2020
LOC1300629459Feb 20, 2020
LOC1300632954Dec 20, 2021
LOC1300633764Feb 20, 2020
LOC1300633771Feb 20, 2020
LOC1300634412Feb 20, 2020
LOC1300635298Feb 20, 2020
LOC1300635471Feb 20, 2020
LOC1300635701Feb 20, 2020
LOC1300635712Feb 20, 2020
LOC1300635752Feb 20, 2020
LOC1300636482Feb 20, 2020
LOC1300636503Feb 20, 2020
LOC1300636737Feb 20, 2020
LOC1300637171Dec 14, 2020
LOC1300638071Feb 20, 2020
LOC1300638291Feb 20, 2020
LOC1300639721Feb 20, 2020
LOC1300641297Feb 20, 2020
LOC1300642502Feb 20, 2020
LOC1300642792Feb 20, 2020
LOC1300642812Feb 20, 2020
LOC1300643503Feb 20, 2020
LOC1300643575Feb 20, 2020
LOC13006438713Feb 20, 2020
LOC13006441724Feb 20, 2020
LOC1300644194Feb 20, 2020
LOC1300644542Feb 20, 2020
LOC1300644564Feb 20, 2020
LOC1300644752Dec 13, 2022
LOC1300645436Feb 20, 2020
LOC1300645952Feb 20, 2020
LOC1300647098Feb 20, 2020
LOC1300648922Feb 20, 2020
LOC1300648965Feb 20, 2020
LOC1300650904Feb 20, 2020
LOC13006534521Feb 20, 2020
LOC1300654045Feb 20, 2020
LOC1300654084Feb 20, 2020
LOC1300655851Feb 20, 2020
LOC1300655865Feb 20, 2020
LOC13006567011Feb 20, 2020
LOC1300656791Feb 20, 2020
LOC13006568013Feb 20, 2020
LOC1300658723Feb 20, 2020
LOC1300659741Feb 20, 2020
LOC1300659783Feb 20, 2020
LOC1300660805Feb 20, 2020
LOC1300661666Sep 8, 2024
LOC13006625318Feb 20, 2020
LOC1300664053Feb 20, 2020
LOC1300664131Feb 20, 2020
LOC1300665584Feb 20, 2020
LOC1300666394Feb 20, 2020
LOC1300667888Feb 20, 2020
LOC1300668754Feb 20, 2020
LOC1300668932Feb 20, 2020
LOC1300668948Feb 20, 2020
LOC1300669391Feb 20, 2020
LOC1300669401Feb 1, 2019
LOC1300671216Feb 20, 2020
LOC1300671471Feb 20, 2020
LOC1300671848Feb 20, 2020
LOC1300672804Feb 20, 2020
LOC1300672818Feb 20, 2020
LOC13006757414Feb 20, 2020
LOC1300675828Feb 20, 2020
LOC1300676802Feb 20, 2020
LOC1300677763Feb 20, 2020
LOC1300678618Feb 20, 2020
LOC13006786214Feb 20, 2020
LOC1300678641Feb 20, 2020
LOC1300678664Feb 20, 2020
LOC1300678821Feb 20, 2020
LOC1300678831Feb 20, 2020
LOC1300678875Feb 20, 2020
LOC1300682025Feb 20, 2020
LOC1300682101Feb 20, 2020
LOC1300682551Feb 20, 2020
LOC1300682561Feb 20, 2020
LOC1300683961Oct 7, 2021
LOC1300684491Feb 20, 2020
LOC1300685613Feb 20, 2020
LOC1300686795Feb 20, 2020
LOC1300688311Feb 20, 2020
LOC1300688695Feb 20, 2020
LOC1300688861Dec 14, 2020
LOC1300688963Feb 20, 2020
LOC1314778961Apr 25, 2023
LOC1320886965Feb 20, 2020
LOC1320887948Feb 20, 2020
LOC1320900596Feb 20, 2020
LOC1320904451Feb 20, 2020
LOC3405121Mar 19, 2024
LOC3999005Feb 20, 2020
LOXHD1219Feb 10, 2023
LOXL314Feb 20, 2020
LPIN1114Jul 16, 2020
LPIN2184Feb 20, 2020
LPL97Feb 20, 2020
LRAT160Feb 20, 2020
LRIT354Feb 20, 2020
LRP2368Feb 20, 2020
LRP4150Feb 20, 2020
LRP4-AS168Feb 20, 2020
LRP51Apr 7, 2025
LRP61Dec 16, 2021
LRPPRC162Dec 14, 2020
LRRC37A24Feb 20, 2020
LRRC519Feb 20, 2020
LRRC562Mar 19, 2024
LRRK2153Dec 16, 2021
LRSAM182Feb 20, 2020
LRTOMT70Feb 20, 2020
LTBP2399Feb 20, 2020
LTBP477Apr 12, 2024
LTBR9Feb 20, 2020
LURAP1L-AS142Feb 20, 2020
LYST215Feb 20, 2020
LYZ41Feb 20, 2020
LZTR14Nov 6, 2023
MAF1Feb 10, 2023
MAFB62Dec 14, 2020
MAG1Feb 3, 2026
MAGEL23Feb 3, 2026
MAK7Feb 20, 2020
MAN1B1110Feb 20, 2020
MAN2B1102Feb 20, 2020
MAN2C12Dec 13, 2022
MANBA64Feb 20, 2020
MAP1B2Feb 10, 2023
MAP2K12Dec 16, 2021
MAP3K1530Feb 20, 2020
MAP3K71Dec 14, 2020
MAP4K51Feb 20, 2020
MAPK8IP33Sep 19, 2023
MAPT103Feb 20, 2020
MAPT-AS111Feb 20, 2020
MARS12Feb 3, 2026
MARVELD246Feb 20, 2020
MASP268Feb 20, 2020
MASTL62Feb 20, 2020
MAT1A85Feb 20, 2020
MAT2A8Feb 20, 2020
MATN358Sep 19, 2023
MATR393Feb 20, 2020
MAU21Oct 7, 2021
MAX46Feb 20, 2020
MBD42Feb 20, 2020
MBL282Feb 20, 2020
MBTPS11Mar 19, 2024
MC1R152Feb 20, 2020
MC2R101Feb 20, 2020
MC4R45Dec 16, 2021
MCAM57Feb 20, 2020
MCCC137Feb 20, 2020
MCCC271Feb 20, 2020
MCEE20Feb 20, 2020
MCFD2104Feb 20, 2020
MCFD2-AS197Feb 20, 2020
MCM498Feb 20, 2020
MCOLN170Jun 29, 2023
MCPH1113Feb 20, 2020
MCPH1-AS134Feb 20, 2020
MDGA21Dec 16, 2021
MDH1B1Feb 20, 2020
MECP211Feb 3, 2026
MECR2Jun 29, 2023
MED123Feb 3, 2026
MED12L2Dec 13, 2022
MED132Mar 19, 2024
MED13L6Jun 18, 2024
MED2315Feb 20, 2020
MEF2C2Jun 29, 2023
MEFV112Nov 6, 2023
MEGF10193Feb 20, 2020
MEIS21Aug 9, 2021
MEN192Apr 28, 2025
MERTK67Feb 20, 2020
MESP240Feb 20, 2020
MET136Feb 20, 2020
METTL812Feb 20, 2020
MFF-DT171Sep 8, 2024
MFN2194Jun 29, 2023
MFRP173Feb 20, 2020
MFSD875Jun 29, 2023
MGAT259Feb 20, 2020
MGP27Feb 20, 2020
MHRT74Feb 3, 2026
MID14Feb 10, 2023
MIF4GD-DT13Feb 20, 2020
MILR121Jul 16, 2020
MINK117Feb 20, 2020
MIP39Feb 20, 2020
MIR208B4Feb 20, 2020
MIR3936HG9Feb 20, 2020
MIR449718Feb 20, 2020
MIR46951Feb 20, 2020
MIR47092Feb 20, 2020
MIR4713HG78Feb 20, 2020
MIR4733HG60Feb 20, 2020
MIR4843Feb 20, 2020
MIR60843Feb 20, 2020
MIR67951Feb 20, 2020
MIR67971Feb 20, 2020
MIR68861Feb 20, 2020
MIR97182Feb 20, 2020
MITD12Feb 10, 2023
MITF201Mar 19, 2024
MKKS113Feb 20, 2020
MKRN26Feb 20, 2020
MKS1115Feb 20, 2020
MLC1115Feb 3, 2026
MLH168Feb 20, 2020
MLH3136Feb 20, 2020
MLYCD79Feb 20, 2020
MMAA124Feb 10, 2023
MMAB114Feb 20, 2020
MMACHC83Aug 9, 2021
MMADHC70Feb 20, 2020
MMADHC-DT8Feb 20, 2020
MMP13100Feb 20, 2020
MMP291Feb 20, 2020
MMP2053Feb 20, 2020
MMP20-AS132Feb 20, 2020
MMP948Feb 20, 2020
MMUT73Jun 29, 2023
MOCS1123Dec 13, 2022
MOCS263Feb 20, 2020
MORC21Dec 20, 2021
MPDU127Feb 20, 2020
MPDU1-AS13Feb 20, 2020
MPHOSPH95Feb 20, 2020
MPI49Feb 20, 2020
MPL46Feb 20, 2020
MPV1727Feb 20, 2020
MPZ120Feb 20, 2020
MRAP25Feb 20, 2020
MRAP-AS15Feb 20, 2020
MRE11121Feb 20, 2020
MRNIP17Feb 20, 2020
MRPL362Feb 20, 2020
MRPL392Feb 3, 2026
MRPS123Feb 20, 2020
MRPS2219Feb 20, 2020
MRPS341Sep 19, 2023
MSH292Jun 18, 2024
MSH682Apr 22, 2025
MSMO12Feb 3, 2026
MSTN49Feb 20, 2020
MSX11Jun 1, 2022
MSX2116Feb 20, 2020
MT-ATP63Apr 12, 2024
MT-ATP81Jun 29, 2023
MT-CO12Mar 19, 2024
MT-CO21Jun 29, 2023
MT-CO31Jun 29, 2023
MT-CYB1Mar 19, 2024
MT-ND12Nov 6, 2023
MT-ND21Jun 29, 2023
MT-ND31Jun 29, 2023
MT-ND41Jun 29, 2023
MT-ND4L1Jun 29, 2023
MT-ND52Apr 22, 2025
MT-RNR11Nov 6, 2023
MT-TA1Jun 29, 2023
MT-TC1Jun 29, 2023
MT-TD1Jun 29, 2023
MT-TG1Jun 29, 2023
MT-TH1Jun 29, 2023
MT-TI2Apr 12, 2024
MT-TK1Jun 29, 2023
MT-TL12Nov 6, 2023
MT-TM1Jun 29, 2023
MT-TN1Jun 29, 2023
MT-TQ1Jun 29, 2023
MT-TR1Jun 29, 2023
MT-TS12Jun 29, 2023
MT-TS21Jun 29, 2023
MT-TW2Nov 6, 2023
MT-TY1Jun 29, 2023
MTAP113Feb 20, 2020
MTFMT1Feb 10, 2023
MTHFR3Feb 10, 2023
MTM11Dec 7, 2023
MTMR269Feb 20, 2020
MTOR9Aug 9, 2021
MTR246Feb 20, 2020
MTRFR43Feb 20, 2020
MTRR102Feb 20, 2020
MTTP94Feb 20, 2020
MUS819Feb 20, 2020
MUSK71Feb 20, 2020
MUTYH53Jul 29, 2024
MVK114Feb 20, 2020
MVP-DT3Nov 6, 2023
MYBPC168Feb 3, 2026
MYBPC3222Feb 3, 2026
MYH11272Feb 20, 2020
MYH14208Feb 20, 2020
MYH269Aug 9, 2021
MYH3315Nov 15, 2023
MYH61Sep 19, 2023
MYH7444Feb 3, 2026
MYH8108Feb 20, 2020
MYH9392Feb 20, 2020
MYHAS177Aug 9, 2021
MYL224Apr 22, 2025
MYL320Feb 20, 2020
MYLK178Aug 9, 2021
MYLK-AS139Feb 20, 2020
MYMK2Dec 14, 2020
MYO15A290Feb 13, 2025
MYO3A129Feb 20, 2020
MYO5B313Feb 20, 2020
MYO6337Nov 6, 2023
MYO7A760Jul 16, 2020
MYOC97Feb 20, 2020
MYORG2Jun 29, 2023
MYOT36Feb 20, 2020
MYT1L1Jun 18, 2024
NAA153Mar 19, 2024
NADSYN12Feb 20, 2020
NAGA113Feb 20, 2020
NAGLU46Feb 10, 2023
NAGS35Feb 20, 2020
NARS24Feb 10, 2023
NBAS5Feb 3, 2026
NBEA4Apr 22, 2025
NBEAL2200Feb 10, 2023
NBN92Feb 20, 2020
NCAPH238Feb 20, 2020
NCF242Feb 20, 2020
NCOR12Feb 20, 2020
NCR134Feb 20, 2020
NDE1243Feb 20, 2020
NDRG190Jul 16, 2020
NDUFA10288Feb 20, 2020
NDUFA1122Feb 20, 2020
NDUFA213Feb 20, 2020
NDUFAF135Feb 20, 2020
NDUFAF228Dec 16, 2021
NDUFAF331Feb 20, 2020
NDUFAF459Feb 20, 2020
NDUFS1133Feb 20, 2020
NDUFS242Feb 20, 2020
NDUFS340Feb 20, 2020
NDUFS438Feb 20, 2020
NDUFS614Feb 20, 2020
NDUFS737Feb 3, 2026
NDUFS842Feb 20, 2020
NDUFV192Feb 3, 2026
NDUFV217Feb 20, 2020
NDUFV2-AS110Feb 20, 2020
NEB454Apr 22, 2025
NECTIN1142Feb 20, 2020
NEFL45Nov 6, 2023
NEK1107Feb 20, 2020
NEK863Feb 20, 2020
NEU133Feb 20, 2020
NEUROD149Feb 20, 2020
NEXMIF1Mar 19, 2024
NF1598Apr 22, 2025
NF2124Feb 20, 2020
NFIA1Mar 19, 2024
NFIB1Dec 14, 2020
NFIX2Dec 14, 2020
NFKB11Dec 16, 2021
NFKBIA30Feb 20, 2020
NFU128Feb 20, 2020
NGF20Feb 20, 2020
NGF-AS120Feb 20, 2020
NGLY11Apr 22, 2025
NHLRC146Feb 20, 2020
NICN19Feb 20, 2020
NIP74Feb 20, 2020
NIPA1135Feb 20, 2020
NIPAL470Feb 20, 2020
NIPAL4-DT3Feb 20, 2020
NIPBL98Dec 14, 2020
NIPSNAP3B184Feb 20, 2020
NKX2-153Dec 13, 2022
NKX2-1-AS16Feb 20, 2020
NLGN31Feb 3, 2026
NLRC41Dec 14, 2020
NLRP12104Feb 20, 2020
NLRP3260Jun 1, 2022
NLRP7105Feb 20, 2020
NOBOX55Feb 20, 2020
NOC3L20Feb 20, 2020
NOD2249Jul 16, 2020
NODAL94Feb 20, 2020
NOP1020Feb 20, 2020
NOTCH11Aug 9, 2021
NOTCH21Dec 14, 2020
NOTCH3185Apr 1, 2020
NPC1120Sep 19, 2023
NPC214Feb 20, 2020
NPHP1139Feb 20, 2020
NPHP3258Feb 20, 2020
NPHP3-ACAD11258Feb 20, 2020
NPHP3-AS124Feb 20, 2020
NPHP4319Feb 3, 2026
NPHS1144Nov 15, 2023
NPHS245Dec 14, 2020
NPR243Feb 20, 2020
NPRL21Aug 9, 2021
NPRL31Dec 14, 2020
NR2C2AP2Feb 20, 2020
NR2E3115Sep 10, 2024
NR2F11Mar 19, 2024
NR2F1-AS11Mar 19, 2024
NR2F22Mar 19, 2024
NR3C1110Feb 20, 2020
NR3C2117Jun 29, 2023
NR4A240Feb 20, 2020
NRAP27Feb 20, 2020
NRAS76Apr 22, 2025
NRL32Feb 20, 2020
NRROS1Dec 20, 2021
NRXN1177Dec 7, 2023
NSD13Apr 22, 2025
NSD21Jun 1, 2022
NSUN264Feb 20, 2020
NT5DC177Feb 20, 2020
NTRK174Feb 20, 2020
NUBPL82Feb 20, 2020
NUMA19Feb 20, 2020
NUP1884Feb 20, 2020
NUP932Mar 19, 2024
NYX29Feb 20, 2020
OAT48Feb 20, 2020
OBSL1202Feb 20, 2020
OCA296Jul 16, 2020
OCRL1Mar 19, 2024
ODAD33Feb 20, 2020
OFD16Jun 1, 2022
OGT2Feb 3, 2026
OPA1110Mar 19, 2024
OPA1-AS14Feb 20, 2020
OPA3382Feb 20, 2020
OPTN120Feb 20, 2020
OR10Z157Feb 20, 2020
ORAI11Nov 15, 2023
ORC155Mar 19, 2024
ORC634Feb 20, 2020
OSGIN241Feb 20, 2020
OSTM191Feb 20, 2020
OTC19Dec 20, 2021
OTOF203Feb 20, 2020
OTOGL2Apr 1, 2020
OTOP25Feb 20, 2020
OTULIN320Feb 20, 2020
OTX252Mar 19, 2024
OXCT158Mar 19, 2024
OXCT1-AS110Feb 20, 2020
OXTR47Dec 20, 2021
P2RX5-TAX1BP320Feb 20, 2020
P2RY121Dec 13, 2022
P3H186Feb 20, 2020
PACRG7Feb 20, 2020
PACS11Apr 1, 2020
PAFAH1B11Jun 29, 2023
PAGE2B2Feb 20, 2020
PAH56Apr 22, 2025
PAK11Jul 16, 2020
PAK320Feb 20, 2020
PALB277Apr 22, 2025
PALD11Feb 20, 2020
PALLD109Feb 20, 2020
PANK241Feb 20, 2020
PANK2-AS11Feb 20, 2020
PARK723Feb 20, 2020
PAX21Nov 6, 2023
PAX380Feb 20, 2020
PAX6529Feb 20, 2020
PAX72Apr 1, 2020
PAX895Mar 19, 2024
PAX8-AS121Mar 19, 2024
PAX953Feb 20, 2020
PBX11Dec 14, 2020
PC83Feb 20, 2020
PCARE209Feb 20, 2020
PCBD110Feb 20, 2020
PCCA56Feb 20, 2020
PCCB44Feb 20, 2020
PCDH15146Feb 20, 2020
PCDH191Feb 3, 2026
PCK174Feb 20, 2020
PCNT379Feb 20, 2020
PCSK155Feb 20, 2020
PCSK9210Feb 20, 2020
PDCD1017Feb 20, 2020
PDE4D132Dec 14, 2020
PDE6A152Nov 22, 2024
PDE6B241Feb 20, 2020
PDE6B-AS154Feb 20, 2020
PDE6C155Jun 29, 2023
PDE6G25Feb 20, 2020
PDE6H16Feb 20, 2020
PDE8B88Feb 20, 2020
PDF7Feb 20, 2020
PDGFRA251Feb 20, 2020
PDHA155Dec 13, 2022
PDHB33Feb 20, 2020
PDHX81Feb 20, 2020
PDK1-AS1100Feb 20, 2020
PDS5B1Nov 15, 2023
PDSS133Feb 20, 2020
PDYN62Feb 20, 2020
PDYN-AS162Feb 20, 2020
PEPD71Feb 20, 2020
PEX189Feb 20, 2020
PEX1076Feb 20, 2020
PEX1247Feb 20, 2020
PEX1392Feb 20, 2020
PEX1451Feb 20, 2020
PEX1644Feb 20, 2020
PEX1969Feb 20, 2020
PEX293Feb 20, 2020
PEX26123Jun 29, 2023
PEX346Feb 20, 2020
PEX5100Feb 20, 2020
PEX666Feb 20, 2020
PEX777Feb 20, 2020
PFAS4Feb 20, 2020
PFKM42Feb 20, 2020
PGAM224Feb 20, 2020
PGBD330Feb 20, 2020
PGGHG1Nov 6, 2023
PGK11Nov 15, 2023
PGM135Feb 20, 2020
PHEX44Nov 6, 2023
PHF317Feb 20, 2020
PHF81Nov 15, 2023
PHGDH43Feb 20, 2020
PHKA153Feb 20, 2020
PHKA1-AS11Feb 20, 2020
PHKA21Jul 16, 2020
PHKB106Feb 20, 2020
PHKG234Feb 20, 2020
PHOX2B112Feb 20, 2020
PHOX2B-AS114Feb 20, 2020
PHYH41Feb 20, 2020
PI4KA2Feb 20, 2020
PIEZO11Dec 14, 2020
PIEZO27Jun 29, 2023
PIGA5Jun 29, 2023
PIGB1Sep 19, 2023
PIGL22Feb 20, 2020
PIGO65Dec 14, 2020
PIGO-AS12Feb 20, 2020
PIGU2Mar 19, 2024
PIGV46Feb 20, 2020
PIK3CA3Mar 19, 2024
PIK3CD1Dec 16, 2021
PIKFYVE154Feb 20, 2020
PIMREG2Feb 20, 2020
PINK181Feb 20, 2020
PINK1-AS64Feb 20, 2020
PIRC6678Feb 20, 2020
PITPNM3154Feb 20, 2020
PITRM11Oct 7, 2021
PITX2420Feb 20, 2020
PJVK48Feb 20, 2020
PKD112Apr 22, 2025
PKD2105Aug 9, 2021
PKD2L2-DT36Feb 20, 2020
PKHD1344Feb 20, 2020
PKIG1Feb 1, 2019
PKLR64Feb 20, 2020
PKP1137Feb 20, 2020
PKP2126Feb 3, 2026
PLA2G678Feb 27, 2026
PLAU63Feb 20, 2020
PLCB1103Feb 20, 2020
PLCB4101Jul 16, 2020
PLCE1161Feb 20, 2020
PLCE1-AS19Feb 20, 2020
PLCH24Feb 20, 2020
PLEC3Mar 19, 2024
PLEKHG24Mar 19, 2024
PLEKHG5126Feb 20, 2020
PLK42Dec 14, 2020
PLN32Nov 6, 2023
PLOD182Feb 20, 2020
PLOD270Feb 20, 2020
PLP12Mar 19, 2024
PLTP2Feb 20, 2020
PLXNB3-AS151Dec 14, 2020
PMM2100Mar 19, 2024
PMP2262Nov 22, 2024
PMPCB1Jul 16, 2020
PMS278Apr 22, 2025
PNKD63Feb 20, 2020
PNKP55Feb 20, 2020
PNP52Feb 20, 2020
PNPLA161Feb 20, 2020
PNPLA288Feb 20, 2020
PNPLA379Feb 20, 2020
PNPLA6118Feb 20, 2020
PNPO55Feb 20, 2020
POF1B48Nov 22, 2024
POGZ5Sep 19, 2023
POLD11Jul 16, 2020
POLG135Mar 19, 2024
POLG-DT4Feb 20, 2020
POLG221Jul 16, 2020
POLGARF132Mar 19, 2024
POLH209Feb 20, 2020
POLR1C378Feb 3, 2026
POLR2F74Feb 20, 2020
POLR3A167Dec 16, 2021
POLR3B75Nov 15, 2023
POMC48Feb 20, 2020
POMGNT184Feb 20, 2020
POMK1Mar 19, 2024
POMT195Jun 29, 2023
POMT2117Feb 20, 2020
POR121Dec 16, 2021
POU1F120Feb 20, 2020
POU3F411Feb 20, 2020
POU4F323Apr 1, 2020
PPARG58Feb 20, 2020
PPIB34Feb 20, 2020
PPOX30Feb 20, 2020
PPP1CB1Feb 3, 2026
PPP1R12A1Dec 14, 2020
PPP1R211Jun 1, 2022
PPP2R1A3Jun 1, 2022
PPP2R5D1Feb 3, 2026
PPT162Feb 20, 2020
PQBP111Jun 1, 2022
PRADX5Feb 20, 2020
PRCD53Feb 20, 2020
PRDM122Aug 9, 2021
PRDM163Mar 19, 2024
PRDM512Feb 20, 2020
PREPL17Dec 14, 2020
PRF171Feb 20, 2020
PRG41Mar 19, 2024
PRICKLE2146Feb 20, 2020
PRICKLE2-AS198Feb 20, 2020
PRICKLE2-AS32Feb 20, 2020
PRKAG2158Feb 20, 2020
PRKAG2-AS12Feb 20, 2020
PRKAR1A131Aug 9, 2021
PRKCG50Feb 20, 2020
PRKCSH68Feb 20, 2020
PRKN111Feb 20, 2020
PRKRA42Feb 20, 2020
PRNP48Feb 20, 2020
PROC50Apr 22, 2025
PROKR235Feb 3, 2026
PROM1431Feb 20, 2020
PROP133Feb 20, 2020
PROS174Feb 20, 2020
PRPF329Feb 20, 2020
PRPF3155Feb 20, 2020
PRPF31-AS126Feb 20, 2020
PRPF667Feb 20, 2020
PRPF8107Feb 20, 2020
PRPH2458Feb 20, 2020
PRPS169Feb 20, 2020
PRR121Dec 16, 2021
PRRT23Nov 6, 2023
PRSS11Oct 18, 2016
PRSS1289Oct 7, 2021
PRSS23103Feb 20, 2020
PRX128Feb 20, 2020
PSAP327Feb 20, 2020
PSAT140Feb 20, 2020
PSEN1238Feb 20, 2020
PSEN2120Feb 20, 2020
PSMB825Feb 20, 2020
PSPH60Feb 20, 2020
PSTPIP164Feb 20, 2020
PTCH1365Dec 14, 2020
PTCHD13Feb 3, 2026
PTCHD1-AS16Nov 6, 2023
PTEN87Jun 29, 2023
PTF1A28Feb 20, 2020
PTH13Feb 20, 2020
PTH1R92Feb 20, 2020
PTPN11255Mar 19, 2024
PTS12Feb 20, 2020
PUF601Feb 10, 2023
PUM13Dec 20, 2021
PURA1Jun 29, 2023
PURG10Feb 20, 2020
PUS154Feb 20, 2020
PUS107Feb 20, 2020
PYCR145Feb 20, 2020
PYCR21Apr 7, 2025
PYGL51Feb 20, 2020
PYGM75Feb 3, 2026
PYROXD11Mar 19, 2024
PYY19Feb 20, 2020
QDPR39Mar 19, 2024
QRICH11Dec 14, 2020
RAB18105Feb 20, 2020
RAB2355Feb 20, 2020
RAB27A90Feb 20, 2020
RAB33A27Feb 20, 2020
RAB33B64Feb 20, 2020
RAB39B26Feb 20, 2020
RAB3GAP174Feb 20, 2020
RAB3GAP2232Feb 20, 2020
RAB7A56Feb 20, 2020
RAB9B2Mar 19, 2024
RABEP22Feb 20, 2020
RAD212Aug 9, 2021
RAD51C27Feb 20, 2020
RAD527Feb 20, 2020
RAF1129Apr 22, 2025
RAG1209Feb 20, 2020
RAG286Feb 20, 2020
RANBP2102Feb 20, 2020
RAPSN96Aug 9, 2021
RARS235Feb 20, 2020
RASA140Feb 3, 2026
RAX78Feb 20, 2020
RAX2133Feb 20, 2020
RB177Feb 20, 2020
RBM20156Feb 20, 2020
RBM27-POU4F323Apr 1, 2020
RBM8A1Mar 15, 2024
RBP398Feb 20, 2020
RD3104Feb 20, 2020
RDH1232Feb 20, 2020
RDH527Feb 20, 2020
RDX79Feb 20, 2020
RECQL42Aug 9, 2021
REEP167Nov 6, 2023
RELN217Dec 14, 2020
REN56Feb 20, 2020
RER122Feb 20, 2020
RERE2Nov 15, 2023
RET508Feb 20, 2020
RETREG155Feb 20, 2020
RETREG1-AS111Feb 20, 2020
RFT1119Feb 20, 2020
RFX4-AS129Nov 15, 2023
RFX554Feb 20, 2020
RFXANK22Feb 20, 2020
RFXAP39Feb 20, 2020
RGR30Feb 20, 2020
RHBDF2111Feb 20, 2020
RHO149Feb 20, 2020
RHOBTB22Nov 15, 2023
RIF199Apr 22, 2025
RIMS1131Feb 20, 2020
RIPK4117Feb 20, 2020
RLBP1147Feb 20, 2020
RLIG125Feb 20, 2020
RLIM1Aug 9, 2021
RMC13Feb 20, 2020
RMDN274Feb 20, 2020
RMRP2Aug 9, 2021
RNASE431Feb 20, 2020
RNASEH2A33Feb 20, 2020
RNASEH2B40Jun 29, 2023
RNASEH2B-AS112Jun 29, 2023
RNASEH2C65Feb 20, 2020
RNASET239Apr 1, 2020
RNF113A1Dec 13, 2022
RNF1780Feb 20, 2020
RNU122Feb 3, 2026
RNU4-11Apr 22, 2025
RNU4-21Apr 22, 2025
RNU4ATAC2Apr 1, 2020
RNU7-12Dec 20, 2021
ROBO2153Feb 20, 2020
ROBO3104Feb 20, 2020
ROGDI56Dec 14, 2020
ROM144Feb 20, 2020
ROR2233Feb 20, 2020
RP1107Feb 3, 2026
RP1L1398Feb 20, 2020
RP237Feb 20, 2020
RP914Feb 20, 2020
RPAP21Feb 20, 2020
RPE65133Dec 14, 2020
RPGRIP1166Feb 20, 2020
RPGRIP1L376Feb 20, 2020
RPIA29Feb 20, 2020
RPL1112Feb 20, 2020
RPL35A10Feb 20, 2020
RPL36A-HNRNPH212Sep 8, 2024
RPL3L1Mar 15, 2024
RPL532Feb 20, 2020
RPL612Feb 20, 2020
RPS1018Feb 20, 2020
RPS10-NUDT318Feb 20, 2020
RPS1924Feb 20, 2020
RPS2421Feb 20, 2020
RPS2619Feb 20, 2020
RPS6KA31Apr 12, 2024
RPS714Feb 20, 2020
RRAS21Feb 10, 2023
RRH1Feb 20, 2020
RRM2B161Mar 19, 2024
RSPH4A53Feb 20, 2020
RSPH920Feb 20, 2020
RTEL11Feb 10, 2023
RTEL1-TNFRSF6B1Feb 10, 2023
RTN215Feb 20, 2020
RUNX1128Feb 20, 2020
RUNX1-AS13Feb 20, 2020
RUNX292Feb 20, 2020
RUSF124Feb 20, 2020
RYR11000Feb 3, 2026
RYR2560Feb 20, 2020
S100PBP25Feb 20, 2020
SACS235Nov 6, 2023
SAG94Feb 20, 2020
SALL11Mar 19, 2024
SAMHD196Jun 29, 2023
SARM197Feb 20, 2020
SARS258Feb 20, 2020
SATB11Feb 3, 2026
SATB24Mar 19, 2024
SBDS3Dec 20, 2021
SBF2135Feb 20, 2020
SBF2-AS158Feb 20, 2020
SC5D116Feb 20, 2020
SCAMP51Nov 6, 2023
SCN1A204Nov 6, 2023
SCN1A-AS1483Dec 14, 2020
SCN1B81Aug 9, 2021
SCN2A120Apr 22, 2025
SCN3A6Feb 3, 2026
SCN4A996Feb 3, 2026
SCN5A1084Feb 3, 2026
SCN8A4Aug 9, 2021
SCN9A565Dec 14, 2020
SCNN1A154Feb 20, 2020
SCNN1B183Dec 14, 2020
SCNN1G132Feb 20, 2020
SCO164Feb 20, 2020
SCO264Feb 20, 2020
SDCCAG892Feb 20, 2020
SDHA203Dec 14, 2022
SDHAF116Feb 20, 2020
SDHAF224Feb 20, 2020
SDHB53Feb 20, 2020
SDHC57Feb 20, 2020
SDHD21Feb 20, 2020
SEC23B55Feb 20, 2020
SEC63133Feb 3, 2026
SECISBP21Sep 19, 2023
SELENON100Feb 20, 2020
SEMA4A118Feb 20, 2020
SEMA6B2Feb 10, 2023
SEPSECS72Feb 20, 2020
SEPTIN9116Feb 20, 2020
SERPINA195Feb 3, 2026
SERPINC122Feb 20, 2020
SERPINE170Feb 20, 2020
SERPINF140Feb 20, 2020
SERPING140Feb 20, 2020
SERPINH159Feb 20, 2020
SERPINI131Feb 20, 2020
SETBP12Jun 29, 2023
SETD1A2Mar 19, 2024
SETD1B2Apr 12, 2024
SETD51Aug 9, 2021
SETX384Apr 1, 2020
SFRP42Apr 22, 2025
SFTA347Dec 13, 2022
SFTPB66Feb 20, 2020
SFTPC69Feb 20, 2020
SGCA41Jun 29, 2023
SGCB88Feb 20, 2020
SGCD197Feb 20, 2020
SGCE24Feb 10, 2023
SGCG41Feb 20, 2020
SGSH90Nov 6, 2023
SH2D1A28Feb 20, 2020
SH3BP2116Feb 20, 2020
SH3PXD2B189Feb 20, 2020
SH3TC21064Feb 20, 2020
SHANK11Apr 22, 2025
SHANK21Feb 10, 2023
SHANK34Mar 19, 2024
SHH2Mar 19, 2024
SHLD24Feb 20, 2020
SHOC251Feb 20, 2020
SI138Feb 20, 2020
SIL142Feb 20, 2020
SIM168Feb 20, 2020
SIM1-AS114Feb 20, 2020
SIN3A1Dec 16, 2021
SIRT41Apr 22, 2025
SIX184Feb 20, 2020
SIX32Feb 10, 2023
SIX632Feb 20, 2020
SKIC278Feb 20, 2020
SKIC32Feb 10, 2023
SLA12Feb 20, 2020
SLC11A278Feb 20, 2020
SLC12A196Feb 20, 2020
SLC12A3180Dec 20, 2021
SLC12A5-AS114Feb 20, 2020
SLC12A6142Jun 1, 2022
SLC16A167Feb 20, 2020
SLC16A22Mar 19, 2024
SLC17A593Feb 20, 2020
SLC17A876Feb 20, 2020
SLC19A158Feb 20, 2020
SLC19A258Feb 20, 2020
SLC19A3108Feb 20, 2020
SLC1A1111Feb 20, 2020
SLC1A378Feb 20, 2020
SLC1A3-AS166Feb 20, 2020
SLC20A281Feb 20, 2020
SLC22A1256Feb 20, 2020
SLC22A582Dec 14, 2020
SLC24A1103Feb 20, 2020
SLC25A1367Feb 20, 2020
SLC25A1592Feb 3, 2026
SLC25A1928Feb 20, 2020
SLC25A2027Feb 20, 2020
SLC25A213Feb 20, 2020
SLC25A2292Feb 20, 2020
SLC25A332Feb 20, 2020
SLC25A3855Apr 12, 2024
SLC25A469Feb 20, 2020
SLC26A118Jun 29, 2023
SLC26A111Feb 20, 2020
SLC26A2718Feb 20, 2020
SLC26A362Feb 20, 2020
SLC26A4239Feb 20, 2020
SLC26A4-AS119Feb 20, 2020
SLC26A5-AS153Feb 20, 2020
SLC29A363Feb 20, 2020
SLC2A1167Mar 19, 2024
SLC2A10110Feb 20, 2020
SLC2A263Feb 20, 2020
SLC2A962Feb 20, 2020
SLC2A9-AS14Feb 20, 2020
SLC2A9-AS39Feb 20, 2020
SLC30A1043Feb 20, 2020
SLC33A11Dec 20, 2021
SLC34A1132Feb 20, 2020
SLC35A11Feb 20, 2020
SLC35C173Feb 20, 2020
SLC35D2-HSD17B327Feb 13, 2025
SLC37A444Feb 20, 2020
SLC39A474Feb 20, 2020
SLC3A182Feb 20, 2020
SLC40A146Feb 20, 2020
SLC45A243Mar 19, 2024
SLC46A1122Feb 20, 2020
SLC4A1364Feb 20, 2020
SLC4A1196Feb 20, 2020
SLC4A4135Feb 20, 2020
SLC4A81Oct 7, 2021
SLC5A1108Feb 20, 2020
SLC5A260Feb 20, 2020
SLC5A588Feb 20, 2020
SLC5A64Nov 15, 2023
SLC6A13Nov 15, 2023
SLC6A1-AS12Feb 10, 2023
SLC6A172Mar 19, 2024
SLC6A20147Feb 20, 2020
SLC6A493Feb 20, 2020
SLC6A55Feb 20, 2020
SLC6A82Sep 19, 2023
SLC7A759Feb 20, 2020
SLC7A960Feb 20, 2020
SLCO1B175Feb 20, 2020
SLCO1B389Feb 20, 2020
SLCO1B3-SLCO1B783Feb 20, 2020
SLITRK182Feb 20, 2020
SLURP116Feb 20, 2020
SLX4231Feb 20, 2020
SMAD22Dec 13, 2022
SMAD364Feb 3, 2026
SMAD4517Feb 10, 2023
SMARCA2123Nov 15, 2023
SMARCA483Mar 19, 2024
SMARCAL155Feb 20, 2020
SMARCB165Apr 22, 2025
SMARCC22Dec 16, 2021
SMC1A88Feb 3, 2026
SMC361Apr 12, 2024
SMCHD11Dec 14, 2020
SMIM1915Feb 20, 2020
SMIM3525Feb 20, 2020
SMN11Jul 16, 2020
SMPD164Feb 20, 2020
SMPX8Feb 20, 2020
SNAI232Feb 20, 2020
SNAP29127Feb 20, 2020
SNCA71Feb 20, 2020
SNCA-AS19Feb 20, 2020
SNCAIP70Feb 20, 2020
SNCAIP-AS336Feb 20, 2020
SNHG22177Feb 20, 2020
SNHG3154Feb 20, 2020
SNHG46Feb 20, 2020
SNIP11Mar 15, 2024
SNORD1185Nov 15, 2023
SNRNP20098Feb 20, 2020
SNTA159Feb 20, 2020
SNX143Jun 29, 2023
SNX1712Feb 20, 2020
SNX2213Feb 20, 2020
SOD123Dec 14, 2020
SOD1-DT12Feb 20, 2020
SON3Feb 3, 2026
SOS1266Feb 10, 2023
SOS24Sep 19, 2023
SOST37Feb 20, 2020
SOX1074Feb 20, 2020
SOX151Feb 20, 2020
SOX21Mar 19, 2024
SOX2-OT1Mar 19, 2024
SOX41Apr 1, 2020
SOX51Jun 18, 2024
SOX63Mar 19, 2024
SOX91Jul 16, 2020
SP11058Feb 20, 2020
SP14026Feb 20, 2020
SPAG87Feb 20, 2020
SPART77Feb 20, 2020
SPAST96Jun 1, 2022
SPATA1647Feb 20, 2020
SPATA22100Feb 20, 2020
SPATA6L103Feb 20, 2020
SPATA7101Feb 20, 2020
SPECC1L2Jun 1, 2022
SPECC1L-ADORA2A2Jun 1, 2022
SPEN1Mar 19, 2024
SPG11149Apr 8, 2025
SPG2131Feb 20, 2020
SPG783Feb 20, 2020
SPINK122Feb 20, 2020
SPINK5101Dec 14, 2020
SPINT22Mar 19, 2024
SPR30Feb 20, 2020
SPRED1119Feb 20, 2020
SPTA1732Aug 9, 2021
SPTAN11Jun 1, 2022
SPTB1Aug 9, 2021
SPTBN11Mar 19, 2024
SPTBN242Feb 3, 2026
SPTBN42Apr 1, 2020
SPTLC135Apr 22, 2025
SPTLC2158Feb 20, 2020
SQSTM186Aug 9, 2021
SRCAP2Jun 29, 2023
SRD5A235Feb 20, 2020
SRD5A377Feb 10, 2023
SRD5A3-AS164Feb 20, 2020
SRP7263Feb 20, 2020
SSUH24Feb 20, 2020
ST3GAL555Mar 19, 2024
STAG21Mar 19, 2024
STAR57Feb 20, 2020
STAT193Dec 14, 2020
STAT366Feb 20, 2020
STAT5B2Dec 16, 2021
STEEP11Mar 19, 2024
STIL77Feb 20, 2020
STK11103Feb 20, 2020
STON1-GTF2A1L104Feb 20, 2020
STRA674Feb 20, 2020
STX11110Feb 20, 2020
STX16118Feb 20, 2020
STX16-NPEPL1118Feb 20, 2020
STXBP13Dec 16, 2021
STXBP249Feb 20, 2020
SUCLA253Feb 20, 2020
SUCLG117Feb 20, 2020
SUFU92Dec 14, 2020
SUMF182Feb 20, 2020
SUMO114Feb 20, 2020
SUOX49Dec 14, 2020
SUPT3H5Feb 20, 2020
SURF128Mar 19, 2024
SYCE27Feb 20, 2020
SYCP314Feb 20, 2020
SYN3105Feb 20, 2020
SYNDIG1L3Feb 20, 2020
SYNE11103Feb 3, 2026
SYNE1-AS12Feb 20, 2020
SYNE1-AS24Feb 20, 2020
SYNE2502Feb 20, 2020
SYNGAP11Apr 7, 2025
SYP1Mar 19, 2024
SYP-AS11Mar 19, 2024
SYT11Dec 14, 2020
SZT22Mar 19, 2024
TAB22Dec 13, 2022
TACO120Feb 20, 2020
TACR337Feb 20, 2020
TACR3-AS120Feb 20, 2020
TACSTD244Feb 20, 2020
TAF15Nov 15, 2023
TAF1C4Feb 20, 2020
TAFAZZIN55Feb 20, 2020
TALDO129Feb 20, 2020
TANC24Mar 19, 2024
TAOK11Jul 16, 2020
TARDBP81Feb 20, 2020
TARID128Feb 20, 2020
TAT49Feb 20, 2020
TAT-AS140Feb 20, 2020
TAX1BP320Feb 20, 2020
TBC1D231Oct 7, 2021
TBC1D24178Feb 20, 2020
TBC1D322Mar 15, 2024
TBCD4Feb 10, 2023
TBCE51Feb 20, 2020
TBCEL-TECTA289Feb 20, 2020
TBL1XR12Nov 6, 2023
TBL1XR1-AS11Nov 6, 2023
TBX1956Feb 20, 2020
TBX21Oct 7, 2021
TBX2231Feb 20, 2020
TBX3100Feb 20, 2020
TBX3-AS133Feb 20, 2020
TBX458Feb 20, 2020
TBX599Dec 14, 2020
TBX5-AS19Feb 20, 2020
TCAP38Feb 20, 2020
TCF201Dec 13, 2022
TCF4138Apr 22, 2025
TCF4-AS13Feb 20, 2020
TCIRG188Feb 20, 2020
TCN277Feb 20, 2020
TCTN134Feb 20, 2020
TCTN2149Feb 20, 2020
TDP183Feb 20, 2020
TDRD771Feb 20, 2020
TECTA289Feb 20, 2020
TEK92Feb 20, 2020
TERT209Feb 20, 2020
TET38Mar 19, 2024
TF58Feb 20, 2020
TFAP2A1Jul 16, 2020
TFAP2B2Sep 19, 2023
TFR282Feb 20, 2020
TG250Feb 20, 2020
TGFB2109Feb 20, 2020
TGFB2-AS16Feb 20, 2020
TGFB2-OT129Feb 20, 2020
TGFB32Feb 3, 2026
TGFBI75Feb 20, 2020
TGFBR162Feb 20, 2020
TGFBR259Feb 20, 2020
TGIF19Feb 20, 2020
TGM178Feb 20, 2020
TGM558Feb 20, 2020
TGM679Feb 20, 2020
TH72Feb 20, 2020
THAP143Feb 20, 2020
THBD78Feb 20, 2020
THOC21May 28, 2024
THPO31Feb 20, 2020
THRB151Feb 20, 2020
THRB-AS15Feb 20, 2020
TIALD12Feb 20, 2020
TIGD162Feb 20, 2020
TIMMDC11Apr 1, 2020
TIMP3105Feb 20, 2020
TINF272Feb 20, 2020
TK288Jul 16, 2020
TLDC238Feb 20, 2020
TLK24Nov 15, 2023
TM2D21Feb 20, 2020
TMC1111Dec 16, 2021
TMCO11Dec 14, 2020
TMCO613Feb 20, 2020
TMEM1075Nov 15, 2023
TMEM120A3Feb 20, 2020
TMEM126A18Feb 20, 2020
TMEM12796Feb 20, 2020
TMEM13827Feb 20, 2020
TMEM16516Feb 20, 2020
TMEM2139Feb 20, 2020
TMEM21672Feb 20, 2020
TMEM237103Feb 20, 2020
TMEM27249Feb 20, 2020
TMEM438Feb 20, 2020
TMEM63A1Feb 3, 2026
TMEM67189Feb 20, 2020
TMEM7062Feb 20, 2020
TMIE35Feb 20, 2020
TMPPE14Feb 20, 2020
TMPRSS386Feb 20, 2020
TMPRSS694Feb 20, 2020
TNFRSF11A166Feb 20, 2020
TNFRSF11B48Mar 19, 2024
TNFRSF13C25Feb 20, 2020
TNFRSF1A47Mar 19, 2024
TNFRSF253Feb 20, 2020
TNFSF1159Feb 20, 2020
TNNC122Feb 20, 2020
TNNI29Feb 20, 2020
TNNI3112Apr 7, 2025
TNNT123Feb 20, 2020
TNNT259Apr 22, 2025
TNNT316Feb 20, 2020
TNRC6B2Apr 7, 2025
TNS22Oct 7, 2021
TNS2-AS11Oct 7, 2021
TNXB4Dec 14, 2020
TOE14Feb 20, 2020
TOMT33Feb 20, 2020
TOP2B1Dec 16, 2021
TOPORS69Feb 20, 2020
TOR1A44Mar 19, 2024
TP5348Jun 29, 2023
TP63276Dec 14, 2020
TPH238Feb 20, 2020
TPI137Feb 20, 2020
TPM160Apr 22, 2025
TPM249Nov 6, 2023
TPM3236Feb 20, 2020
TPO108Feb 20, 2020
TPP170Mar 19, 2024
TPRX23Feb 20, 2020
TRAF72Dec 13, 2022
TRAPPC253Feb 20, 2020
TRAPPC2L10Feb 20, 2020
TRAPPC6B1Dec 14, 2020
TRAPPC911Feb 20, 2020
TRB1Oct 18, 2016
TREM220Feb 20, 2020
TREX136Feb 20, 2020
TRI-AAT4-110Feb 20, 2020
TRIM32129Feb 20, 2020
TRIM3780Feb 20, 2020
TRIM59-IFT8083Feb 20, 2020
TRIM81Nov 6, 2023
TRIO6Feb 3, 2026
TRIP11168Feb 20, 2020
TRMT10A1Feb 10, 2023
TRMT10B15Feb 20, 2020
TRMU59Feb 20, 2020
TRPC688Feb 20, 2020
TRPM1134Feb 20, 2020
TRPM1-AS119Feb 20, 2020
TRPM4106Feb 20, 2020
TRPM6140Feb 20, 2020
TRPS11Dec 16, 2021
TRPV3191Feb 20, 2020
TRPV4627Dec 20, 2021
TRRAP3Dec 20, 2021
TRS-AGA2-69Feb 20, 2020
TRT-AGT1-26Feb 20, 2020
TSC1402Mar 19, 2024
TSC2220Nov 6, 2023
TSEN275Feb 20, 2020
TSEN3456Feb 20, 2020
TSEN5464Mar 19, 2024
TSFM44Feb 20, 2020
TSHB5Feb 20, 2020
TSHR169Feb 13, 2025
TSHR-AS1155Feb 13, 2025
TSHZ11Mar 19, 2024
TSPAN154Feb 20, 2020
TSPAN1234Feb 20, 2020
TSPAN3122Feb 20, 2020
TTBK279Feb 20, 2020
TTC1450Feb 20, 2020
TTC1971Jun 29, 2023
TTC21B240Feb 20, 2020
TTC21B-AS112Feb 20, 2020
TTC36-AS12Feb 3, 2026
TTC7A2Sep 19, 2023
TTC882Feb 20, 2020
TTN8889Feb 3, 2026
TTN-AS15215Apr 22, 2025
TTPA54Feb 20, 2020
TTR27Apr 22, 2025
TUBB1Dec 14, 2020
TUBB11Dec 16, 2021
TUBB2A2Mar 19, 2024
TUBB2B3Mar 19, 2024
TUBB33Dec 14, 2020
TUBB4A81Mar 19, 2024
TUBB612Feb 20, 2020
TUBGCP62Nov 6, 2023
TUFM51Feb 20, 2020
TULP183Feb 20, 2020
TUSC3110Feb 20, 2020
TWIST11Jun 29, 2023
TWNK277Feb 3, 2026
TYK2125Feb 20, 2020
TYMP81Feb 20, 2020
TYR38Feb 13, 2025
TYROBP19Feb 20, 2020
TYRP173Feb 20, 2020
TZMP14Feb 20, 2020
UBA132Feb 20, 2020
UBE3B2Mar 19, 2024
UBE4A1Feb 3, 2026
UBIAD179Feb 20, 2020
UBQLN222Feb 20, 2020
UBR12Dec 20, 2021
UBTF1Aug 9, 2021
UCHL132Feb 20, 2020
UCK12Feb 20, 2020
UGT1A126Feb 20, 2020
UGT1A1126Feb 20, 2020
UGT1A10126Feb 20, 2020
UGT1A3126Feb 20, 2020
UGT1A4126Feb 20, 2020
UGT1A5126Feb 20, 2020
UGT1A6126Feb 20, 2020
UGT1A7126Feb 20, 2020
UGT1A8126Feb 20, 2020
UGT1A9126Feb 20, 2020
UMOD34Feb 20, 2020
UMPS156Feb 20, 2020
UNC11937Feb 20, 2020
UNC13D129Feb 20, 2020
UNC803Nov 6, 2023
UNG54Feb 20, 2020
UNKL4Feb 20, 2020
UPB157Apr 22, 2025
UPK3A38Feb 20, 2020
UQCRQ46Feb 20, 2020
URB113Feb 20, 2020
UROD24Feb 20, 2020
UROS30Feb 20, 2020
USH1C81Feb 20, 2020
USH1G66Feb 20, 2020
USH2A271Mar 19, 2024
USH2A-AS154Feb 20, 2020
USP27X1Feb 3, 2026
USP73Oct 7, 2021
USP9X4Nov 15, 2023
UTP14C26Feb 20, 2020
UTP438Feb 20, 2020
VANGL1360Feb 20, 2020
VAPB308Feb 20, 2020
VARS12Aug 9, 2021
VCAN293Feb 20, 2020
VCAN-AS1151Feb 20, 2020
VCF14Feb 20, 2020
VCL95Feb 20, 2020
VCP101Apr 1, 2020
VDR122Feb 20, 2020
VHL137Feb 20, 2020
VKORC122Feb 20, 2020
VLDLR94Feb 20, 2020
VLDLR-AS118Feb 20, 2020
VPS13A207Feb 20, 2020
VPS13A-AS19Feb 20, 2020
VPS13B271Mar 19, 2024
VPS13D4Dec 16, 2021
VPS33B58Feb 20, 2020
VPS3538Feb 20, 2020
VRK122Feb 20, 2020
VRK218Feb 20, 2020
VSX159Feb 20, 2020
VSX2154Feb 20, 2020
VWF47Jun 29, 2023
WAC1Dec 14, 2020
WASHC573Feb 20, 2020
WASHC5-AS14Feb 20, 2020
WBP2NL34Feb 20, 2020
WDPCP60Feb 20, 2020
WDR111Mar 19, 2024
WDR19168Feb 20, 2020
WDR262Mar 19, 2024
WDR35317Feb 20, 2020
WDR35-DT27Feb 20, 2020
WDR4132Feb 20, 2020
WDR454Apr 22, 2025
WDR62117Mar 19, 2024
WDR72127Feb 20, 2020
WFS1405Dec 16, 2021
WHRN252Feb 20, 2020
WNK1197Feb 20, 2020
WNK496Feb 20, 2020
WNT10A166Feb 10, 2023
WNT5A1Dec 14, 2020
WRAP5345Feb 20, 2020
WRN124Aug 9, 2021
WT1246Feb 20, 2020
WWOX4Oct 22, 2025
XDH173Feb 20, 2020
XIAP95Feb 20, 2020
XPA30Sep 19, 2023
XPC101Apr 12, 2024
XPNPEP3143Feb 20, 2020
XPR11Aug 9, 2021
YARS161Feb 10, 2023
YARS238Feb 20, 2020
YWHAG2Nov 6, 2023
YWHAZ1Jun 29, 2023
ZAP7052Feb 20, 2020
ZBTB182Dec 16, 2021
ZC4H22Dec 16, 2021
ZDHHC2454Jun 29, 2023
ZEB22Mar 19, 2024
ZFP5727Feb 20, 2020
ZFYVE26215Feb 20, 2020
ZFYVE2772Feb 20, 2020
ZIC345Apr 22, 2025
ZMIZ11Feb 10, 2023
ZMPSTE2485Feb 20, 2020
ZNF1481Apr 22, 2025
ZNF27656Feb 20, 2020
ZNF4621Mar 19, 2024
ZNF4692Feb 20, 2020
ZNF51350Feb 20, 2020
ZNF6091Oct 7, 2021
ZNF71129Feb 20, 2020
ZNF8271Oct 7, 2021
ZRANB339Feb 20, 2020

Condition

NameSubmissionsLast Updated
11p partial monosomy syndrome46Feb 20, 2020
2-aminoadipic 2-oxoadipic aciduria2Dec 16, 2021
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia1Dec 14, 2020
3 beta-Hydroxysteroid dehydrogenase deficiency33Feb 20, 2020
3-Methylglutaconic aciduria type 215Feb 20, 2020
3-Methylglutaconic aciduria type 3191Feb 20, 2020
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency35Feb 20, 2020
3-hydroxy-3-methylglutaryl-CoA synthase deficiency40Feb 20, 2020
3-methylcrotonyl-CoA carboxylase 1 deficiency37Feb 20, 2020
3-methylcrotonyl-CoA carboxylase 2 deficiency71Feb 20, 2020
3-methylglutaconic aciduria type 123Feb 20, 2020
3M syndrome 1124Feb 20, 2020
3M syndrome 2202Feb 20, 2020
46,XY sex reversal 729Feb 20, 2020
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency12Feb 20, 2020
ABCA1-related disorder3Feb 3, 2026
ABCA1-related dyslipidemia1Nov 6, 2023
ABCA4-related disorder194Mar 19, 2024
ABCB4-Related Intrahepatic Cholestasis1Mar 19, 2024
ABCC9-related disorder1Feb 20, 2020
ABL1-related congenital heart defects and skeletal malformations syndrome1Dec 13, 2022
ACTA1-related myopathies1Dec 14, 2020
ACTA2-related disorder1Feb 1, 2019
ACTB-related disorder2Dec 14, 2020
ADAR-related disorder1Feb 1, 2019
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2Dec 20, 2021
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome2Aug 9, 2021
AIPL1-related disorder1Feb 1, 2019
ALDH18A1 deficiency3Dec 20, 2021
ALDH18A1-related de Barsy syndrome65Feb 20, 2020
ALG1-congenital disorder of glycosylation2Dec 16, 2021
ALG11-congenital disorder of glycosylation42Feb 20, 2020
ALG12-congenital disorder of glycosylation70Feb 20, 2020
ALG3-congenital disorder of glycosylation37Feb 20, 2020
ALG6-congenital disorder of glycosylation 1C59Feb 20, 2020
ALG8 congenital disorder of glycosylation33Feb 20, 2020
ALG9 congenital disorder of glycosylation63Feb 20, 2020
ALS2-related disorder106Feb 20, 2020
ANO5-Related Muscle Diseases134Feb 20, 2020
ANO5-related disorder3Feb 1, 2019
APC-Associated Polyposis Disorders164Feb 20, 2020
APOLIPOPROTEIN A-II DEFICIENCY6Feb 20, 2020
ARID1B-Related Disorder2Dec 20, 2021
ASAH1-related disorders1Dec 14, 2020
ASH1L-related neurodevelopmental disorders4Dec 20, 2021
ATM-related cancer predisposition1Dec 13, 2022
ATM-related cancer predisposition syndrome1Jun 29, 2023
ATM-related disorder3Aug 9, 2021
ATP13A2-related disorder2Jul 16, 2020
ATP1A2-associated neurological disorder1Nov 15, 2023
ATP1A3-associated neurological disorder3Mar 19, 2024
Abetalipoproteinaemia94Feb 20, 2020
Achondrogenesis, type IA168Feb 20, 2020
Achondrogenesis, type IB143Feb 20, 2020
Achondroplasia1Dec 20, 2021
Achromatopsia77Feb 20, 2020
Achromatopsia 286Dec 14, 2020
Achromatopsia 3103Feb 20, 2020
Achromatopsia 426Feb 20, 2020
Achromatopsia 615Feb 20, 2020
Acral peeling skin syndrome58Feb 20, 2020
Acrocallosal syndrome131Feb 20, 2020
Acrodysostosis 1 with or without hormone resistance66Aug 9, 2021
Acrodysostosis 2 with or without hormone resistance132Dec 14, 2020
Acroerythrokeratoderma16Feb 20, 2020
Acromesomelic dysplasia 1, Maroteaux type43Feb 20, 2020
Acromesomelic dysplasia 2B39Feb 20, 2020
Acromesomelic dysplasia 2C, Hunter-Thompson type39Feb 20, 2020
Acromicric dysplasia195Feb 20, 2020
Actin accumulation myopathy24Feb 20, 2020
Activated PI3K-delta syndrome1Dec 16, 2021
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins59Feb 20, 2020
Acute intermittent porphyria36Apr 22, 2025
Acyl-CoA dehydrogenase 9 deficiency58Apr 25, 2024
Acyl-CoA oxidase deficiency152Feb 20, 2020
Adenine phosphoribosyltransferase deficiency15Feb 20, 2020
Adenosine kinase deficiency30Feb 20, 2020
Adenylosuccinate lyase deficiency27Feb 20, 2020
Adrenoleukodystrophy69Nov 6, 2023
Adult polyglucosan body disease63Feb 20, 2020
Adult-onset autosomal dominant demyelinating leukodystrophy43Feb 20, 2020
Adult-onset foveomacular vitelliform dystrophy76Feb 20, 2020
Adult-onset proximal spinal muscular atrophy, autosomal dominant154Feb 20, 2020
Age related macular degeneration 1387Feb 20, 2020
Age related macular degeneration 1454Feb 20, 2020
Age related macular degeneration 482Feb 20, 2020
Age related macular degeneration 5151Feb 20, 2020
Age related macular degeneration 667Feb 20, 2020
Age related macular degeneration 821Feb 20, 2020
Age related macular degeneration 9121Feb 20, 2020
Agenesis of the corpus callosum with peripheral neuropathy142Jun 1, 2022
Aicardi-Goutieres syndrome 118Feb 20, 2020
Aicardi-Goutieres syndrome 240Jun 29, 2023
Aicardi-Goutieres syndrome 365Feb 20, 2020
Aicardi-Goutieres syndrome 433Feb 20, 2020
Aicardi-Goutieres syndrome 549Jun 29, 2023
Aicardi-Goutieres syndrome 72Jun 1, 2022
Aicardi-Goutieres syndrome 92Dec 20, 2021
Alagille syndrome due to a JAG1 point mutation5Feb 3, 2026
Alagille syndrome due to a NOTCH2 point mutation1Dec 14, 2020
Aldosterone-producing adenoma with seizures and neurological abnormalities1Feb 3, 2026
Alexander disease4Apr 12, 2024
Alkaptonuria47Feb 20, 2020
Allan-Herndon-Dudley syndrome2Mar 19, 2024
Alopecia universalis congenita161Feb 20, 2020
Alpha thalassemia X-linked intellectual disability (ATRX) syndrome1Dec 13, 2022
Alpha thalassemia-X-linked intellectual disability syndrome1Apr 22, 2025
Alpha-1-antitrypsin deficiency95Feb 3, 2026
Alpha-N-acetylgalactosaminidase deficiency type 156Feb 20, 2020
Alpha-N-acetylgalactosaminidase deficiency type 257Feb 20, 2020
Alpha-actinopathy2Nov 15, 2023
Alpha-methylacyl-CoA racemase deficiency62Feb 20, 2020
Alport syndrome418Sep 8, 2024
Alstrom syndrome11Feb 20, 2020
Alternating hemiplegia of childhood 1122Feb 20, 2020
Alternating hemiplegia of childhood 269Feb 20, 2020
Alzheimer disease72Feb 20, 2020
Alzheimer disease 3119Feb 20, 2020
Alzheimer disease 460Feb 20, 2020
Amelocerebrohypohidrotic syndrome56Dec 14, 2020
Amelogenesis imperfecta96Feb 20, 2020
Amelogenesis imperfecta hypomaturation type 2A253Feb 20, 2020
Amelogenesis imperfecta hypomaturation type 2A3127Feb 20, 2020
Amish lethal microcephaly28Feb 20, 2020
Amyloidosis, hereditary systemic 127Apr 22, 2025
Amyotrophic lateral sclerosis 27, juvenile1Apr 22, 2025
Amyotrophic lateral sclerosis type 123Dec 14, 2020
Amyotrophic lateral sclerosis type 1065Feb 20, 2020
Amyotrophic lateral sclerosis type 1157Feb 20, 2020
Amyotrophic lateral sclerosis type 1260Feb 20, 2020
Amyotrophic lateral sclerosis type 1522Feb 20, 2020
Amyotrophic lateral sclerosis type 2, juvenile105Feb 20, 2020
Amyotrophic lateral sclerosis type 2193Feb 20, 2020
Amyotrophic lateral sclerosis type 4192Feb 20, 2020
Amyotrophic lateral sclerosis type 6137Aug 9, 2021
Amyotrophic lateral sclerosis type 8154Feb 20, 2020
Amyotrophic lateral sclerosis type 934Feb 20, 2020
Amyotrophic neuralgia116Feb 20, 2020
Andersen Tawil syndrome100Feb 20, 2020
Androgen resistance syndrome2Apr 22, 2025
Aneurysm-osteoarthritis syndrome64Feb 3, 2026
Angiokeratoma corporis diffusum with arteriovenous fistulas84Feb 20, 2020
Aniridia 137Feb 20, 2020
Annular epidermolytic ichthyosis1Dec 14, 2020
Anophthalmia-microphthalmia syndrome144Feb 20, 2020
Anophthalmia/microphthalmia-esophageal atresia syndrome1Mar 19, 2024
Anterior segment dysgenesis 454Feb 20, 2020
Aortic aneurysm, familial thoracic 4202Feb 20, 2020
Aortic aneurysm, familial thoracic 613Feb 20, 2020
Aortic aneurysm, familial thoracic 7178Aug 9, 2021
Aortic valve disease 11Aug 9, 2021
Aplastic anemia86Feb 20, 2020
Arginase deficiency19Feb 20, 2020
Arginine:glycine amidinotransferase deficiency32Feb 20, 2020
Argininosuccinate lyase deficiency46Dec 16, 2021
Aromatase deficiency83Feb 20, 2020
Arrhinia with choanal atresia and microphthalmia syndrome1Dec 14, 2020
Arrhythmogenic right ventricular cardiomyopathy2Apr 22, 2025
Arrhythmogenic right ventricular dysplasia 10135Jun 29, 2023
Arrhythmogenic right ventricular dysplasia 11102Feb 20, 2020
Arrhythmogenic right ventricular dysplasia 12105Feb 20, 2020
Arrhythmogenic right ventricular dysplasia 2280Feb 20, 2020
Arrhythmogenic right ventricular dysplasia 8169Dec 14, 2020
Arrhythmogenic right ventricular dysplasia 9126Feb 3, 2026
Arterial calcification, generalized, of infancy, 1172Feb 20, 2020
Arterial tortuosity syndrome110Feb 20, 2020
Arthrogryposis, distal, type 1A24Feb 20, 2020
Arthrogryposis, distal, type 1B67Feb 20, 2020
Arthrogryposis, distal, with impaired proprioception and touch6Jun 29, 2023
Arthrogryposis, renal dysfunction, and cholestasis 158Feb 20, 2020
Arts syndrome23Feb 20, 2020
Aspartylglucosaminuria28Feb 20, 2020
Asphyxiating thoracic dystrophy 283Feb 20, 2020
Asphyxiating thoracic dystrophy 3239Feb 20, 2020
Asphyxiating thoracic dystrophy 4120Feb 20, 2020
Asphyxiating thoracic dystrophy 584Feb 20, 2020
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia44Feb 20, 2020
Ataxia-telangiectasia syndrome247Apr 22, 2025
Ataxia-telangiectasia-like disorder 1121Feb 20, 2020
Atelosteogenesis type II143Feb 20, 2020
Athabaskan Brain Stem Dysgenesis Syndrome (ABDS)21Feb 20, 2020
Atransferrinemia58Feb 20, 2020
Atrial fibrillation, familial, 1125Feb 20, 2020
Atrial fibrillation, familial, 398Feb 20, 2020
Atrial fibrillation, familial, 416Feb 20, 2020
Atrial fibrillation, familial, 749Feb 20, 2020
Atrial fibrillation, familial, 999Feb 20, 2020
Atrial septal defect 31Sep 19, 2023
Atrichia with papular lesions160Feb 20, 2020
Atypical hemolytic-uremic syndrome with B factor anomaly51Feb 20, 2020
Atypical hemolytic-uremic syndrome with C3 anomaly121Jul 11, 2024
Atypical hemolytic-uremic syndrome with I factor anomaly57Feb 20, 2020
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly60Feb 20, 2020
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly78Feb 20, 2020
Aural atresia, congenital1Mar 19, 2024
Auriculocondylar syndrome1Jul 16, 2020
Auriculocondylar syndrome 11Dec 14, 2020
Auriculocondylar syndrome 2100Feb 20, 2020
Autism spectrum disorder1Dec 14, 2020
Autism, susceptibility to, X-linked 41Feb 3, 2026
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome2Dec 14, 2020
Autoimmune lymphoproliferative syndrome type 184Aug 9, 2021
Autoimmune lymphoproliferative syndrome type 2A113Feb 20, 2020
Autoimmune lymphoproliferative syndrome type 2B55Feb 20, 2020
Autosomal dominant Parkinson disease 8153Dec 16, 2021
Autosomal dominant Robinow syndrome 11Dec 14, 2020
Autosomal dominant aplasia and myelodysplasia63Feb 20, 2020
Autosomal dominant auditory neuropathy 11Dec 14, 2020
Autosomal dominant centronuclear myopathy92Feb 20, 2020
Autosomal dominant cerebellar ataxia381Feb 20, 2020
Autosomal dominant distal renal tubular acidosis122Feb 20, 2020
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome156Feb 20, 2020
Autosomal dominant hypocalcemia 160Jun 29, 2023
Autosomal dominant hypophosphatemic rickets55Feb 20, 2020
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome4Mar 19, 2024
Autosomal dominant keratitis112Feb 20, 2020
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)58Feb 20, 2020
Autosomal dominant nocturnal frontal lobe epilepsy 498Dec 14, 2020
Autosomal dominant nocturnal frontal lobe epilepsy 53Dec 16, 2021
Autosomal dominant nonsyndromic hearing loss 1110Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 1093Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 11252Apr 1, 2020
Autosomal dominant nonsyndromic hearing loss 12145Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 1523Apr 1, 2020
Autosomal dominant nonsyndromic hearing loss 17196Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 22168Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 2342Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 2576Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 3656Dec 16, 2021
Autosomal dominant nonsyndromic hearing loss 3A59Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 4A208Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 568Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 6199Feb 20, 2020
Autosomal dominant nonsyndromic hearing loss 943Feb 20, 2020
Autosomal dominant optic atrophy classic form109Mar 19, 2024
Autosomal dominant pseudohypoaldosteronism type 1117Jun 29, 2023
Autosomal dominant striatal neurodegeneration type 188Feb 20, 2020
Autosomal dominant vitreoretinochoroidopathy30Feb 20, 2020
Autosomal recessive Alport syndrome3Dec 13, 2022
Autosomal recessive DOPA responsive dystonia66Feb 20, 2020
Autosomal recessive Robinow syndrome116Feb 20, 2020
Autosomal recessive ataxia due to ubiquinone deficiency81Feb 20, 2020
Autosomal recessive ataxia, Beauce type550Jun 1, 2022
Autosomal recessive cerebellar ataxia68Feb 20, 2020
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome4Dec 16, 2021
Autosomal recessive congenital ichthyosis 176Feb 20, 2020
Autosomal recessive congenital ichthyosis 1061Feb 20, 2020
Autosomal recessive congenital ichthyosis 265Feb 20, 2020
Autosomal recessive congenital ichthyosis 372Feb 20, 2020
Autosomal recessive congenital ichthyosis 560Feb 20, 2020
Autosomal recessive congenital ichthyosis 670Feb 20, 2020
Autosomal recessive distal renal tubular acidosis86Feb 20, 2020
Autosomal recessive distal spinal muscular atrophy 1136Apr 12, 2024
Autosomal recessive early-onset Parkinson disease 681Feb 20, 2020
Autosomal recessive early-onset Parkinson disease 723Feb 20, 2020
Autosomal recessive juvenile Parkinson disease 2111Feb 20, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2A88Feb 27, 2026
Autosomal recessive limb-girdle muscular dystrophy type 2B1Apr 22, 2025
Autosomal recessive limb-girdle muscular dystrophy type 2D1Jun 29, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2G19Feb 20, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2J1770Feb 20, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2K92Feb 20, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2N117Feb 20, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2O41Feb 20, 2020
Autosomal recessive multiple pterygium syndrome53Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 12366Feb 3, 2026
Autosomal recessive nonsyndromic hearing loss 1A68Aug 9, 2021
Autosomal recessive nonsyndromic hearing loss 2251Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 21144Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 2479Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 2523Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 2954Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 3290Feb 13, 2025
Autosomal recessive nonsyndromic hearing loss 30129Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 31126Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 3568Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 37169Nov 6, 2023
Autosomal recessive nonsyndromic hearing loss 4255Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 4946Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 5936Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 635Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 6370Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 6768Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 755Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 77217Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 886Feb 20, 2020
Autosomal recessive nonsyndromic hearing loss 9203Feb 20, 2020
Autosomal recessive omodysplasia121Feb 20, 2020
Autosomal recessive optic atrophy, OPA7 type18Feb 20, 2020
Autosomal recessive osteopetrosis 188Feb 20, 2020
Autosomal recessive osteopetrosis 259Feb 20, 2020
Autosomal recessive osteopetrosis 591Feb 20, 2020
Autosomal recessive osteopetrosis 783Feb 20, 2020
Autosomal recessive polycystic kidney disease344Feb 20, 2020
Autosomal recessive proximal renal tubular acidosis135Feb 20, 2020
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency32Feb 20, 2020
Autosomal recessive spinocerebellar ataxia 1068Feb 20, 2020
Autosomal recessive spinocerebellar ataxia 1421Feb 20, 2020
Autosomal recessive spinocerebellar ataxia 203Jun 29, 2023
Axenfeld-Rieger syndrome type 161Feb 20, 2020
Axenfeld-Rieger syndrome type 31Mar 19, 2024
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations1Dec 16, 2021
BAP1-related tumor predisposition syndrome61Feb 20, 2020
BBS2-related disorder1Feb 1, 2019
BCL11A-Related Intellectual Disability1Aug 9, 2021
BCOR-related disorder2Aug 9, 2021
BCS1L-related disorder1Feb 1, 2019
BEST1-related disorder1Feb 1, 2019
BPTF-related neurodevelopmental disorder1Dec 14, 2020
BRAF-related spectrum disorder1Dec 16, 2021
BRCA2-related disorder6Feb 1, 2019
BRIP1-related disorder2Dec 14, 2020
BRWD3-related X-linked syndromic intellectual disability1Dec 14, 2020
Baraitser-Winter syndrome 11Dec 20, 2021
Bardet-Biedl syndrome 171Jun 29, 2023
Bardet-Biedl syndrome 1071Feb 20, 2020
Bardet-Biedl syndrome 1164Feb 20, 2020
Bardet-Biedl syndrome 1258Feb 20, 2020
Bardet-Biedl syndrome 1357Feb 20, 2020
Bardet-Biedl syndrome 14130Feb 20, 2020
Bardet-Biedl syndrome 1560Feb 20, 2020
Bardet-Biedl syndrome 1646Feb 20, 2020
Bardet-Biedl syndrome 266Feb 20, 2020
Bardet-Biedl syndrome 322Feb 20, 2020
Bardet-Biedl syndrome 452Feb 20, 2020
Bardet-Biedl syndrome 656Feb 20, 2020
Bardet-Biedl syndrome 752Feb 20, 2020
Bardet-Biedl syndrome 841Feb 20, 2020
Bardet-Biedl syndrome 990Apr 1, 2020
Bartsocas-Papas syndrome 1117Feb 20, 2020
Bartter disease type 196Feb 20, 2020
Bartter disease type 236Feb 20, 2020
Bartter disease type 4A38Feb 20, 2020
Basal ganglia calcification, idiopathic, 7, autosomal recessive2Jun 29, 2023
Basal laminar drusen82Feb 20, 2020
Batten-Turner congenital myopathy82Feb 20, 2020
Beare-Stevenson cutis gyrata syndrome93Feb 20, 2020
Beck-Fahrner syndrome5Mar 19, 2024
Beckwith-Wiedemann syndrome1Mar 19, 2024
Behavior disorder93Feb 20, 2020
Benign hereditary chorea26Feb 20, 2020
Bernard Soulier syndrome27Feb 20, 2020
Beta-D-mannosidosis64Feb 20, 2020
Bietti crystalline corneoretinal dystrophy121Feb 20, 2020
Bifunctional peroxisomal enzyme deficiency59Feb 20, 2020
Bilateral frontoparietal polymicrogyria110Feb 20, 2020
Bilateral microtia-deafness-cleft palate syndrome32Feb 20, 2020
Biotin-responsive basal ganglia disease108Feb 20, 2020
Biotinidase deficiency4Feb 1, 2019
Birk-Barel syndrome3Dec 16, 2021
Birt-Hogg-Dube syndrome90Feb 20, 2020
Blau syndrome126Jul 16, 2020
Blood group, I system86Feb 20, 2020
Bloom syndrome74Feb 20, 2020
Bohring-Opitz syndrome2Mar 19, 2024
Bosch-Boonstra-Schaaf optic atrophy syndrome1Mar 19, 2024
Brachydactyly155Feb 20, 2020
Brachydactyly type A155Feb 20, 2020
Brachydactyly type B1117Feb 20, 2020
Brachyrachia (short spine dysplasia)104Feb 20, 2020
Brain malformations with or without urinary tract defects1Mar 19, 2024
Brain small vessel disease 1 with or without ocular anomalies160Dec 20, 2021
Brain small vessel disease 2A, autosomal dominant187Feb 20, 2020
Brain-lung-thyroid syndrome27Dec 13, 2022
Branchiooculofacial syndrome1Jul 16, 2020
Branchiootic syndrome 197Feb 20, 2020
Branchiootic syndrome 342Feb 20, 2020
Breast neoplasm2Oct 18, 2016
Breast-ovarian cancer, familial, susceptibility to, 1136Apr 28, 2025
Breast-ovarian cancer, familial, susceptibility to, 2213Apr 22, 2025
Breast-ovarian cancer, familial, susceptibility to, 313Feb 20, 2020
Brittle cornea syndrome 12Feb 20, 2020
Brittle cornea syndrome 212Feb 20, 2020
Brody myopathy60Feb 20, 2020
Bronchiectasis with or without elevated sweat chloride 161Feb 20, 2020
Bronchiectasis with or without elevated sweat chloride 276Feb 20, 2020
Brooke-Spiegler syndrome109Feb 20, 2020
Bruck syndrome 270Feb 20, 2020
Brugada syndrome 1179Feb 20, 2020
Brugada syndrome 540Feb 20, 2020
Bryant-Li-Bhoj neurodevelopmental syndrome 12Mar 15, 2024
Bryant-Li-Bhoj neurodevelopmental syndrome 22Apr 22, 2025
Budd-Chiari syndrome193Feb 20, 2020
CACNA1A-related disorder6Dec 20, 2021
CACNA1B-related neurodevelopmental disorder1Aug 9, 2021
CACNA1D-related neurodevelopmental and endocrine disorders1Dec 14, 2020
CAMK2G-related syndromic intellectual disability1Apr 1, 2020
CAPN3-related disorder1Feb 3, 2026
CASK-related disorder1Dec 20, 2021
CASK-related intellectual disability and microcephaly with pontine and cerebellar hypoplasia1Dec 14, 2020
CBL-related disorder231Feb 3, 2026
CC2D2A-related disorder4Feb 20, 2020
CDH23-related disorder1Feb 1, 2019
CDKL5 disorder1Apr 22, 2025
CEDNIK syndrome127Feb 20, 2020
CEP152-related disorder2May 23, 2024
CEP290-related disorder3Feb 1, 2019
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II150Feb 20, 2020
CFI-related disorder1Feb 20, 2020
CFTR-related disorder132Feb 3, 2026
CHARGE syndrome3Mar 19, 2024
CHD7 Disorder1Dec 20, 2021
CHD7-related disorder1Dec 14, 2020
CHEK2-related cancer predisposition41Mar 19, 2024
CHIME syndrome22Feb 20, 2020
CHRNG-related disorder2Feb 1, 2019
CIC-related neurodevelopmental disorders2Dec 14, 2020
CLCN3-related neurodevelopmental disorders1Jun 1, 2022
CNGB3-related disorder2Feb 1, 2019
CNNM2-related neurodevelopmental disorder and hypomagnesemia1Dec 14, 2020
COG1 congenital disorder of glycosylation61Feb 20, 2020
COG5-congenital disorder of glycosylation114Feb 20, 2020
COG6-congenital disorder of glycosylation73Feb 20, 2020
COG7 congenital disorder of glycosylation57Feb 20, 2020
COG8-congenital disorder of glycosylation41Feb 20, 2020
COL11A1-related disorder1May 23, 2024
COL1A2-related disorder2Aug 9, 2021
COL2A1-related disorder5Dec 13, 2022
COL4A1-related disorder1Apr 12, 2024
COL4A2-related disorder1Jun 1, 2022
COL4A3-related disorder2Feb 1, 2019
COL6A3-related disorder1May 23, 2024
COMP-related disorder3Feb 20, 2020
CRB1-related disorder3Feb 1, 2019
CSNK2A1-related neurodevelopmental syndrome1Dec 14, 2020
CSNK2B-related intellectual disability with or without epilepsy1Aug 9, 2021
CTCF-related neurodevelopmental disorder2Mar 15, 2024
CTCF-related syndromic intellectual disability2Dec 13, 2022
CTNNB1-related syndromic intellectual disability3Dec 20, 2021
CTSC-related disorder2Dec 14, 2020
CUL4B-related X-linked intellectual disability1Dec 16, 2021
CYFIP2-related neurodevelopmental disorders1Jul 16, 2020
CYP1B1-related disorder3Apr 5, 2019
Café-au-lait macules with pulmonary stenosis147Feb 20, 2020
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome1Mar 19, 2024
Camptomelic dysplasia1Jul 16, 2020
Candidiasis, familial, 618Feb 20, 2020
Capillary malformation-arteriovenous malformation 140Feb 3, 2026
Cardiac anomalies - developmental delay - facial dysmorphism syndrome2Jun 29, 2023
Cardiac arrhythmia1Feb 3, 2026
Cardiac arrhythmia, ankyrin-B-related242Feb 20, 2020
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1Aug 9, 2021
Cardiac, facial, and digital anomalies with developmental delay1Dec 20, 2021
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 128Feb 20, 2020
Cardiofaciocutaneous syndrome 31Dec 16, 2021
Cardiofacioneurodevelopmental syndrome1Sep 19, 2023
Cardiomyopathy1Feb 3, 2026
Cardiomyopathy, dilated, 2D1Mar 15, 2024
Cardiomyopathy, familial restrictive, 128Feb 20, 2020
Cardiomyopathy, familial restrictive, 323Feb 20, 2020
Cardiomyopathy-hypotonia-lactic acidosis syndrome32Feb 20, 2020
Carney complex, type 165Feb 20, 2020
Carney-Stratakis syndrome26Feb 20, 2020
Carnitine acylcarnitine translocase deficiency27Feb 20, 2020
Carnitine palmitoyltransferase II deficiency53Feb 3, 2026
Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders2Aug 9, 2021
Cataract61Feb 20, 2020
Cataract 1 multiple types20Feb 20, 2020
Cataract 12 multiple types35Feb 20, 2020
Cataract 14 multiple types102Feb 20, 2020
Cataract 15 multiple types39Feb 20, 2020
Cataract 16 multiple types14Feb 20, 2020
Cataract 17 multiple types27Feb 20, 2020
Cataract 18194Feb 20, 2020
Cataract 19 multiple types35Feb 20, 2020
Cataract 22 multiple types32Feb 20, 2020
Cataract 3671Feb 20, 2020
Cataract 3860Feb 20, 2020
Cataract 4 multiple types24Feb 20, 2020
Cataract 5 multiple types52Feb 20, 2020
Cataract 6 multiple types104Feb 20, 2020
Cataract 9 multiple types28Feb 20, 2020
Catecholaminergic polymorphic ventricular tachycardia 1280Feb 20, 2020
Catecholaminergic polymorphic ventricular tachycardia 263Feb 20, 2020
Caveolinopathy51Dec 20, 2021
Cayman type cerebellar ataxia130Feb 20, 2020
Cenani-Lenz syndactyly syndrome150Feb 20, 2020
Central core myopathy175Dec 14, 2020
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 194Feb 20, 2020
Cerebellar dysfunction with variable cognitive and behavioral abnormalities3Apr 22, 2025
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1185Apr 1, 2020
Cerebral cavernous malformation85Dec 16, 2021
Cerebral cavernous malformation 21Feb 3, 2026
Cerebral cavernous malformation 316Feb 20, 2020
Cerebral folate transport deficiency15Feb 20, 2020
Cerebrooculofacioskeletal syndrome 1152Feb 20, 2020
Cerebroretinal microangiopathy with calcifications and cysts 12Apr 5, 2019
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)145Feb 20, 2020
Channelopathy-associated congenital insensitivity to pain, autosomal recessive188Feb 20, 2020
Char syndrome2Sep 19, 2023
Charcot-Marie-Tooth disease2Nov 6, 2023
Charcot-Marie-Tooth disease X-linked dominant 118Jul 16, 2020
Charcot-Marie-Tooth disease axonal type 2C104Feb 20, 2020
Charcot-Marie-Tooth disease axonal type 2F26Feb 20, 2020
Charcot-Marie-Tooth disease axonal type 2L34Feb 20, 2020
Charcot-Marie-Tooth disease axonal type 2N79Feb 20, 2020
Charcot-Marie-Tooth disease axonal type 2O179Feb 20, 2020
Charcot-Marie-Tooth disease axonal type 2P82Feb 20, 2020
Charcot-Marie-Tooth disease dominant intermediate B92Feb 20, 2020
Charcot-Marie-Tooth disease dominant intermediate C59Aug 9, 2021
Charcot-Marie-Tooth disease dominant intermediate D30Feb 20, 2020
Charcot-Marie-Tooth disease dominant intermediate E1Dec 16, 2021
Charcot-Marie-Tooth disease recessive intermediate A83Feb 20, 2020
Charcot-Marie-Tooth disease type 1B30Feb 20, 2020
Charcot-Marie-Tooth disease type 1C61Feb 20, 2020
Charcot-Marie-Tooth disease type 1D28Feb 20, 2020
Charcot-Marie-Tooth disease type 1F43Feb 20, 2020
Charcot-Marie-Tooth disease type 293Feb 20, 2020
Charcot-Marie-Tooth disease type 2A21Dec 14, 2020
Charcot-Marie-Tooth disease type 2B56Feb 20, 2020
Charcot-Marie-Tooth disease type 2B144Feb 20, 2020
Charcot-Marie-Tooth disease type 2D67Feb 20, 2020
Charcot-Marie-Tooth disease type 41Jul 16, 2020
Charcot-Marie-Tooth disease type 4B169Feb 20, 2020
Charcot-Marie-Tooth disease type 4B2135Feb 20, 2020
Charcot-Marie-Tooth disease type 4C531Feb 20, 2020
Charcot-Marie-Tooth disease type 4D89Feb 20, 2020
Charcot-Marie-Tooth disease type 4F128Feb 20, 2020
Charcot-Marie-Tooth disease type 4H164Feb 20, 2020
Charcot-Marie-Tooth disease type 4J58Feb 20, 2020
Charcot-Marie-Tooth disease, axonal, type 2FF1Apr 12, 2024
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive83Feb 20, 2020
Charcot-Marie-Tooth disease, type I31Nov 22, 2024
Charlevoix-Saguenay spastic ataxia229Nov 6, 2023
Chilblain lupus 247Feb 20, 2020
Childhood apraxia of speech107Aug 9, 2021
Childhood onset GLUT1 deficiency syndrome 21Dec 14, 2020
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1Aug 9, 2021
Chitotriosidase deficiency76Feb 20, 2020
Cholestanol storage disease51Feb 20, 2020
Cholestasis, intrahepatic, of pregnancy, 363Feb 20, 2020
Chondrocalcinosis 2193Feb 20, 2020
Chondrodysplasia Blomstrand type46Feb 20, 2020
Chondrodysplasia punctata 2 X-linked dominant1Dec 14, 2020
Chondrodysplasia with joint dislocations, gPAPP type157Feb 20, 2020
Chopra-Amiel-Gordon syndrome1Dec 16, 2021
Choroidal dystrophy, central areolar 276Feb 20, 2020
Chromosome 2q32-q33 deletion syndrome1Jul 16, 2020
Chronic infantile neurological, cutaneous and articular syndrome86Feb 20, 2020
Chudley-McCullough syndrome58Feb 20, 2020
Chédiak-Higashi syndrome215Feb 20, 2020
Citrullinemia type I57Feb 20, 2020
Citrullinemia type II67Feb 20, 2020
Classic homocystinuria80Feb 20, 2020
Cleft lip/palate-ectodermal dysplasia syndrome142Feb 20, 2020
Cleft palate with or without ankyloglossia, X-linked31Feb 20, 2020
Cleidocranial dysostosis92Feb 20, 2020
Cobalamin C disease2Aug 9, 2021
Cockayne syndrome type 150Feb 20, 2020
Cockayne syndrome type 2151Feb 20, 2020
Coffin-Lowry syndrome1Apr 12, 2024
Coffin-Siris syndrome78Jul 16, 2020
Coffin-Siris syndrome 15Mar 19, 2024
Coffin-Siris syndrome 71Dec 16, 2021
Cohen syndrome271Mar 19, 2024
Collagen 6-related myopathy699May 28, 2024
Colorectal cancer1Apr 22, 2025
Colorectal cancer, hereditary nonpolyposis, type 268Feb 20, 2020
Colorectal cancer, hereditary nonpolyposis, type 7136Feb 20, 2020
Combined PSAP deficiency65Feb 20, 2020
Combined deficiency of sialidase AND beta galactosidase32Feb 20, 2020
Combined immunodeficiency due to CD3gamma deficiency26Feb 20, 2020
Combined immunodeficiency due to DOCK8 deficiency195Feb 20, 2020
Combined immunodeficiency due to ZAP70 deficiency52Feb 20, 2020
Combined oxidative phosphorylation defect type 451Feb 20, 2020
Combined oxidative phosphorylation defect type 743Feb 20, 2020
Combined oxidative phosphorylation defect type 8119Feb 20, 2020
Complement component 2 deficiency42Feb 20, 2020
Complement component 3 deficiency121Feb 20, 2020
Complex neurodevelopmental disorder4Sep 19, 2023
Cone dystrophy 339Feb 20, 2020
Cone dystrophy 478Jun 29, 2023
Cone dystrophy with supernormal rod response87Feb 20, 2020
Cone-rod dystrophy113Feb 20, 2020
Cone-rod dystrophy 1059Feb 20, 2020
Cone-rod dystrophy 1166Feb 20, 2020
Cone-rod dystrophy 12106Feb 20, 2020
Cone-rod dystrophy 1382Feb 20, 2020
Cone-rod dystrophy 15127Feb 20, 2020
Cone-rod dystrophy 1656Feb 20, 2020
Cone-rod dystrophy 2129Feb 20, 2020
Cone-rod dystrophy 5154Feb 20, 2020
Cone-rod dystrophy 7131Feb 20, 2020
Cone-rod dystrophy 962Feb 20, 2020
Cone-rod synaptic disorder, congenital nonprogressive101Feb 20, 2020
Congenital Muscular Dystrophy, LAMA2-related2Dec 16, 2021
Congenital Muscular Dystrophy, alpha-dystroglycan related227Feb 20, 2020
Congenital absence of salivary gland10Feb 20, 2020
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency121Dec 16, 2021
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency29Feb 20, 2020
Congenital afibrinogenemia129Feb 3, 2026
Congenital amegakaryocytic thrombocytopenia44Feb 20, 2020
Congenital bile acid synthesis defect 292Feb 20, 2020
Congenital brain dysgenesis due to glutamine synthetase deficiency115Feb 20, 2020
Congenital central hypoventilation56Feb 20, 2020
Congenital contractural arachnodactyly259Dec 20, 2021
Congenital defect of folate absorption122Feb 20, 2020
Congenital disorder of deglycosylation 11Apr 22, 2025
Congenital disorder of deglycosylation 21Dec 13, 2022
Congenital disorder of glycosylation110Feb 20, 2020
Congenital disorder of glycosylation type 1E22Sep 8, 2024
Congenital dyserythropoietic anemia type 434Feb 20, 2020
Congenital dyserythropoietic anemia, type I139Feb 20, 2020
Congenital dyserythropoietic anemia, type II55Feb 20, 2020
Congenital fibrosis of extraocular muscles type 1110Jul 16, 2020
Congenital generalized lipodystrophy type 172Nov 6, 2023
Congenital generalized lipodystrophy type 236Feb 20, 2020
Congenital generalized lipodystrophy type 463Feb 20, 2020
Congenital glucose-galactose malabsorption108Feb 20, 2020
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder2Sep 19, 2023
Congenital heart defects, multiple types, 41Mar 19, 2024
Congenital hyperammonemia, type I119Apr 1, 2020
Congenital hypomyelination neuropathy with or without arthrogryposis2Jun 1, 2022
Congenital ichthyosis of skin161Feb 20, 2020
Congenital insensitivity to pain-hypohidrosis syndrome2Aug 9, 2021
Congenital isolated adrenocorticotropic hormone deficiency56Feb 20, 2020
Congenital lactase deficiency76Feb 20, 2020
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type160Feb 20, 2020
Congenital lipoid adrenal hyperplasia due to STAR deficency57Feb 20, 2020
Congenital microvillous atrophy313Feb 20, 2020
Congenital multicore myopathy with external ophthalmoplegia405Dec 14, 2020
Congenital muscular dystrophy due to LMNA mutation45Dec 14, 2020
Congenital muscular dystrophy due to partial LAMA2 deficiency258Feb 20, 2020
Congenital muscular dystrophy with intellectual disability and severe epilepsy31Feb 20, 2020
Congenital muscular hypertrophy-cerebral syndrome86Feb 3, 2026
Congenital myasthenic syndrome216Dec 16, 2021
Congenital myasthenic syndrome 1149Aug 9, 2021
Congenital myasthenic syndrome 12158Feb 20, 2020
Congenital myasthenic syndrome 132Nov 15, 2023
Congenital myasthenic syndrome 16198Feb 20, 2020
Congenital myasthenic syndrome 4C60Feb 20, 2020
Congenital myasthenic syndrome 565Feb 20, 2020
Congenital myasthenic syndrome 971Feb 20, 2020
Congenital myopathy 2324Feb 20, 2020
Congenital myopathy 4B, autosomal recessive118Feb 20, 2020
Congenital myopathy with fiber type disproportion141Feb 20, 2020
Congenital myotonia, autosomal dominant form1Dec 20, 2021
Congenital nephrotic syndrome135Feb 20, 2020
Congenital nonprogressive myopathy with Moebius and Robin sequences2Dec 14, 2020
Congenital plasminogen activator inhibitor type 1 deficiency70Feb 20, 2020
Congenital prothrombin deficiency36Feb 20, 2020
Congenital secretory diarrhea, chloride type62Feb 20, 2020
Congenital secretory sodium diarrhea 32Mar 19, 2024
Congenital sensory neuropathy with selective loss of small myelinated fibers20Feb 20, 2020
Congenital stationary night blindness 1A29Feb 20, 2020
Congenital stationary night blindness 1C134Feb 20, 2020
Congenital stationary night blindness 1D103Feb 20, 2020
Congenital stationary night blindness 1E168Feb 20, 2020
Congenital stationary night blindness 1F54Feb 20, 2020
Congenital stationary night blindness autosomal dominant 175Feb 20, 2020
Congenital stationary night blindness autosomal dominant 2121Feb 20, 2020
Congenital stationary night blindness autosomal dominant 349Feb 20, 2020
Congenital stromal corneal dystrophy36Feb 20, 2020
Congenital vertical talus30Feb 20, 2020
Corneal dystrophy291Feb 20, 2020
Cornelia de Lange syndrome 198Dec 14, 2020
Cornelia de Lange syndrome 360Apr 12, 2024
Cornelia de Lange syndrome 41Jul 16, 2020
Cornelia de Lange syndrome 52Mar 19, 2024
Cortical dysplasia-focal epilepsy syndrome159Feb 20, 2020
Corticosterone 18-monooxygenase deficiency89Feb 20, 2020
Corticosterone methyloxidase type 2 deficiency89Feb 20, 2020
Costello syndrome2Mar 19, 2024
Cowden syndrome 11Jul 16, 2020
Coxopodopatellar syndrome58Feb 20, 2020
Cranioectodermal dysplasia 187Feb 20, 2020
Cranioectodermal dysplasia 2158Feb 20, 2020
Cranioectodermal dysplasia 484Feb 20, 2020
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 11Dec 14, 2020
Craniofacial-deafness-hand syndrome40Feb 20, 2020
Craniofrontonasal syndrome1Dec 13, 2022
Craniometaphyseal dysplasia, autosomal dominant193Feb 20, 2020
Craniosynostosis 258Feb 20, 2020
Craniosynostosis syndrome231Feb 20, 2020
Creatine transporter deficiency2Sep 19, 2023
Crigler-Najjar syndrome42Feb 20, 2020
Crouzon syndrome93Feb 20, 2020
Cryopyrin associated periodic syndrome1Jun 1, 2022
Cutaneous porphyria30Feb 20, 2020
Cutis laxa99Feb 20, 2020
Cutis laxa with osteodystrophy143Feb 20, 2020
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies77Apr 12, 2024
Cutis laxa, autosomal dominant 183Feb 20, 2020
Cutis laxa, autosomal recessive, type 1B37Feb 20, 2020
Cystathioninuria46Feb 20, 2020
Cystic fibrosis21May 23, 2024
Cystic leukoencephalopathy without megalencephaly39Apr 1, 2020
Cystinuria142Feb 20, 2020
D-2-hydroxyglutaric aciduria 1112Feb 20, 2020
DDX3X-related X-linked intellectual disability2Dec 16, 2021
DDX41-related hematologic malignancy predisposition syndrome2Mar 19, 2024
DHX9-related neurodevelopmental disorder1Nov 6, 2023
DICER1-related tumor predisposition159Mar 19, 2024
DK1-congenital disorder of glycosylation42Feb 20, 2020
DLD-related disorder2Feb 1, 2019
DLG4-Related Synaptopathy1Aug 9, 2021
DNA ligase IV deficiency78Feb 20, 2020
DPAGT1-congenital disorder of glycosylation31Feb 20, 2020
DPM3-congenital disorder of glycosylation2Feb 20, 2020
DSP-related cardiomyopathy1Nov 6, 2023
DSP-related disorder1Feb 1, 2019
DYNC1H1-related neurodevelopmental disorders5Dec 16, 2021
DYNC1H1-related neurological disorders1Mar 15, 2024
DYNC1H1-related neuronopathy3Dec 13, 2022
DYNC2H1-related disorder1Feb 1, 2019
DYRK1A-related intellectual disability syndrome5Mar 19, 2024
DYSF-related disorder4Dec 13, 2022
Dalmatian hypouricemia56Feb 20, 2020
Danon disease87Feb 20, 2020
De Lange syndrome2Aug 9, 2021
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome33Feb 20, 2020
Deafness-lymphedema-leukemia syndrome72Feb 20, 2020
Decreased response to growth hormone stimulation test44Feb 20, 2020
Deficiency of 2-methylbutyryl-CoA dehydrogenase139Feb 20, 2020
Deficiency of 3-hydroxyacyl-CoA dehydrogenase44Feb 20, 2020
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase34Apr 22, 2025
Deficiency of acetyl-CoA acetyltransferase58Feb 20, 2020
Deficiency of alpha-mannosidase102Feb 20, 2020
Deficiency of aromatic-L-amino-acid decarboxylase50Feb 20, 2020
Deficiency of beta-ureidopropionase57Apr 22, 2025
Deficiency of butyryl-CoA dehydrogenase57May 23, 2024
Deficiency of butyrylcholinesterase43Feb 20, 2020
Deficiency of cytochrome-b5 reductase1Dec 14, 2020
Deficiency of ferroxidase88Feb 20, 2020
Deficiency of galactokinase36Feb 20, 2020
Deficiency of guanidinoacetate methyltransferase38Feb 20, 2020
Deficiency of hyaluronoglucosaminidase38Feb 20, 2020
Deficiency of hydroxymethylglutaryl-CoA lyase29Feb 20, 2020
Deficiency of iodide peroxidase108Feb 20, 2020
Deficiency of isobutyryl-CoA dehydrogenase57Feb 20, 2020
Deficiency of malonyl-CoA decarboxylase79Feb 20, 2020
Deficiency of phosphoserine phosphatase60Feb 20, 2020
Deficiency of ribose-5-phosphate isomerase29Feb 20, 2020
Deficiency of steroid 11-beta-monooxygenase113Feb 20, 2020
Deficiency of steroid 17-alpha-monooxygenase25Feb 20, 2020
Deficiency of transaldolase29Feb 20, 2020
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1Dec 14, 2020
Dent disease type 185Feb 3, 2026
Dermatofibrosis lenticularis disseminata81Feb 20, 2020
Desbuquois dysplasia 199Feb 20, 2020
Desmin-related myofibrillar myopathy45Apr 12, 2024
Desmosterolosis87Feb 20, 2020
Developmental and epileptic encephalopathy 921Apr 22, 2025
Developmental and epileptic encephalopathy, 12103Feb 20, 2020
Developmental and epileptic encephalopathy, 132Dec 14, 2020
Developmental and epileptic encephalopathy, 182Mar 19, 2024
Developmental and epileptic encephalopathy, 262Mar 19, 2024
Developmental and epileptic encephalopathy, 271Apr 22, 2025
Developmental and epileptic encephalopathy, 282Oct 22, 2025
Developmental and epileptic encephalopathy, 291Feb 3, 2026
Developmental and epileptic encephalopathy, 31A1Dec 16, 2021
Developmental and epileptic encephalopathy, 41Jul 16, 2020
Developmental and epileptic encephalopathy, 422Jul 16, 2020
Developmental and epileptic encephalopathy, 51Jun 1, 2022
Developmental and epileptic encephalopathy, 502Dec 14, 2020
Developmental and epileptic encephalopathy, 541Mar 19, 2024
Developmental and epileptic encephalopathy, 562Nov 6, 2023
Developmental and epileptic encephalopathy, 621Feb 3, 2026
Developmental and epileptic encephalopathy, 642Nov 15, 2023
Developmental and epileptic encephalopathy, 691Dec 14, 2020
Developmental and epileptic encephalopathy, 801Sep 19, 2023
Developmental and epileptic encephalopathy, 91Feb 3, 2026
Developmental delay and seizures with or without movement abnormalities1Jun 29, 2023
Developmental delay with dysmorphic facies and dental anomalies1Feb 3, 2026
Developmental delay, hypotonia, and impaired language1Nov 6, 2023
Developmental delay, impaired speech, and behavioral abnormalities1Mar 19, 2024
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures3Mar 15, 2024
Diabetes insipidus, nephrogenic, X-linked41Feb 20, 2020
Diabetes insipidus, nephrogenic, autosomal99Feb 20, 2020
Diabetes mellitus, permanent neonatal 21Apr 22, 2025
Diabetes mellitus, transient neonatal, 127Feb 20, 2020
Diabetes mellitus, transient neonatal, 2109Feb 20, 2020
Diabetes mellitus, transient neonatal, 363Feb 20, 2020
Diamond-Blackfan anemia 124Feb 20, 2020
Diamond-Blackfan anemia 1019Feb 20, 2020
Diamond-Blackfan anemia 321Feb 20, 2020
Diamond-Blackfan anemia 510Feb 20, 2020
Diamond-Blackfan anemia 632Feb 20, 2020
Diamond-Blackfan anemia 712Feb 20, 2020
Diamond-Blackfan anemia 814Feb 20, 2020
Diamond-Blackfan anemia 918Feb 20, 2020
Diaphanospondylodysostosis106Feb 20, 2020
Diaphyseal medullary stenosis-bone malignancy syndrome113Feb 20, 2020
Dias-Logan syndrome1Jul 16, 2020
Diastrophic dysplasia143Feb 20, 2020
Dicarboxylic aminoaciduria111Feb 20, 2020
Diffuse nonepidermolytic palmoplantar keratoderma38Feb 20, 2020
Dihydropteridine reductase deficiency39Mar 19, 2024
Dihydropyrimidinase deficiency43Sep 8, 2024
Dihydropyrimidine dehydrogenase deficiency91Feb 20, 2020
Dilated cardiomyopathy 1A46Jun 29, 2023
Dilated cardiomyopathy 1AA87Feb 20, 2020
Dilated cardiomyopathy 1C25Feb 20, 2020
Dilated cardiomyopathy 1D13Apr 22, 2025
Dilated cardiomyopathy 1DD156Feb 20, 2020
Dilated cardiomyopathy 1E179Feb 20, 2020
Dilated cardiomyopathy 1G1788Apr 7, 2025
Dilated cardiomyopathy 1HH63Nov 6, 2023
Dilated cardiomyopathy 1I44Feb 20, 2020
Dilated cardiomyopathy 1J93Feb 20, 2020
Dilated cardiomyopathy 1O59Feb 20, 2020
Dilated cardiomyopathy 1P30Feb 20, 2020
Dilated cardiomyopathy 1R76Apr 8, 2025
Dilated cardiomyopathy 1S66Jul 16, 2020
Dilated cardiomyopathy 1U119Feb 20, 2020
Dilated cardiomyopathy 1V60Feb 20, 2020
Dilated cardiomyopathy 1W95Feb 20, 2020
Dilated cardiomyopathy 1X108Feb 20, 2020
Dilated cardiomyopathy 1Y29Feb 20, 2020
Dilated cardiomyopathy 1Z11Feb 20, 2020
Dilated cardiomyopathy 2A28Feb 20, 2020
Dilated cardiomyopathy 3B187Feb 20, 2020
Disorders of GNAS Inactivation3Nov 6, 2023
Disorders of Intracellular Cobalamin Metabolism464Feb 20, 2020
Distal arthrogryposis type 2B1181Feb 20, 2020
Distal arthrogryposis type 5D1Jun 29, 2023
Distal spinal muscular atrophy67Feb 20, 2020
Distichiasis-lymphedema syndrome2Sep 19, 2023
Donnai-Barrow syndrome368Feb 20, 2020
Dopa-responsive dystonia due to sepiapterin reductase deficiency30Feb 20, 2020
Doyne honeycomb retinal dystrophy47Feb 20, 2020
Duane retraction syndrome 246Feb 20, 2020
Dubin-Johnson syndrome124Feb 20, 2020
Dyggve-Melchior-Clausen syndrome5Feb 20, 2020
Dyskeratosis congenita214Feb 20, 2020
Dyskeratosis congenita, X-linked1Dec 14, 2020
Dyskeratosis congenita, autosomal dominant 269Feb 20, 2020
Dyskeratosis congenita, autosomal dominant 336Feb 20, 2020
Dyskeratosis congenita, autosomal recessive 120Feb 20, 2020
Dyskeratosis congenita, autosomal recessive 342Feb 20, 2020
Dystonia 1269Feb 20, 2020
Dystonia 1642Feb 20, 2020
Dystonia 568Feb 20, 2020
Dystonia 983Feb 20, 2020
EAST syndrome93Feb 20, 2020
EEM syndrome92Feb 20, 2020
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 273Feb 20, 2020
ERCC2-related disorder1Feb 1, 2019
ERCC6-related disorder3Feb 1, 2019
Early Myoclonic Encephalopathy92Feb 20, 2020
Early-onset generalized limb-onset dystonia44Mar 19, 2024
Early-onset myopathy with fatal cardiomyopathy1770Feb 20, 2020
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive6Feb 20, 2020
Ectodermal dysplasia and immunodeficiency 230Feb 20, 2020
Ectopia lentis 1, isolated, autosomal dominant194Feb 20, 2020
Ectopia lentis 2, isolated, autosomal recessive125Feb 20, 2020
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 392Feb 20, 2020
Ehlers-Danlos syndrome due to tenascin-X deficiency4Dec 14, 2020
Ehlers-Danlos syndrome, arthrochalasia type135Jul 16, 2020
Ehlers-Danlos syndrome, arthrochalasia type, 2117Feb 20, 2020
Ehlers-Danlos syndrome, classic type109Feb 20, 2020
Ehlers-Danlos syndrome, classic type, 11Sep 19, 2023
Ehlers-Danlos syndrome, classic type, 294Feb 20, 2020
Ehlers-Danlos syndrome, dermatosparaxis type187Jul 9, 2024
Ehlers-Danlos syndrome, kyphoscoliotic type 180Feb 20, 2020
Ehlers-Danlos syndrome, type 498Feb 20, 2020
Elliptocytosis 2245Aug 9, 2021
Ellis-van Creveld syndrome380Feb 20, 2020
Emery-Dreifuss muscular dystrophy42Feb 20, 2020
Emery-Dreifuss muscular dystrophy 1, X-linked2Apr 12, 2024
Emery-Dreifuss muscular dystrophy 2, autosomal dominant44Feb 20, 2020
Emery-Dreifuss muscular dystrophy 4, autosomal dominant550Mar 19, 2024
Emery-Dreifuss muscular dystrophy 5, autosomal dominant502Feb 20, 2020
Encephalopathy due to GLUT1 deficiency83Mar 19, 2024
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome38Feb 20, 2020
Endocardial fibroelastosis20Feb 20, 2020
Enhanced S-cone syndrome53Feb 20, 2020
Epidermolysis bullosa dystrophica240Feb 20, 2020
Epidermolysis bullosa simplex67Feb 20, 2020
Epidermolysis bullosa simplex due to plakophilin deficiency137Feb 20, 2020
Epidermolysis bullosa simplex with mottled pigmentation1Dec 14, 2020
Epidermolysis bullosa simplex, Ogna type1Mar 19, 2024
Epidermolytic hyperkeratosis 11Nov 6, 2023
Epidermolytic ichthyosis38Feb 20, 2020
Epilepsy with myoclonic atonic seizures1Dec 14, 2020
Epilepsy, familial focal, with variable foci 12Mar 19, 2024
Epilepsy, familial focal, with variable foci 21Aug 9, 2021
Epilepsy, familial focal, with variable foci 31Dec 14, 2020
Epilepsy, familial focal, with variable foci 41Feb 3, 2026
Epilepsy, familial temporal lobe, 119Feb 20, 2020
Epilepsy, idiopathic generalized, susceptibility to, 1398Feb 20, 2020
Epiphyseal dysplasia, multiple, 291Feb 20, 2020
Episodic ataxia type 1153Apr 7, 2025
Episodic ataxia type 5128Feb 20, 2020
Episodic ataxia type 678Feb 20, 2020
Erythrocyte AMP deaminase deficiency106Feb 20, 2020
Erythrocytosis, familial, 3138Feb 20, 2020
Erythrocytosis, familial, 4130Feb 20, 2020
Erythrokeratodermia variabilis et progressiva 167Feb 20, 2020
Essential fructosuria76Feb 20, 2020
Ethylmalonic encephalopathy22Feb 20, 2020
Exercise-induced hyperinsulinism67Feb 20, 2020
Exostoses, multiple, type 292Apr 22, 2025
Exudative vitreoretinopathy 1116Apr 7, 2025
Exudative vitreoretinopathy 534Feb 20, 2020
F12-related disorder1Oct 18, 2016
FAR1-related neurodevelopmental disorder1Dec 16, 2021
FBN1-related disorder2Jul 16, 2020
FBXO28-related developmental and epileptic encephalopathy1Aug 9, 2021
FBXW11-related neurodevelopmental, brain, eye, and digit anomalies1Aug 9, 2021
FGA-related disorder1Feb 1, 2019
FGFR1-related craniosynostosis syndrome1Dec 20, 2021
FGFR2-related syndromic and non-syndromic craniosynostoses1Dec 14, 2020
FGFR3-related chondrodysplasia1Apr 22, 2025
FHL1-related disorder1Dec 16, 2021
FIG4-related disorder3Aug 9, 2021
FKTN-related disorder1Feb 1, 2019
FLG-related disorder5Sep 8, 2024
FLNA-Related Otopalatodigital Spectrum Disorders1Jul 16, 2020
FLNA-related periventricular nodular heterotopia1Aug 9, 2021
FLNB-Related Spectrum Disorders251Dec 14, 2020
FLNC-related disorder1Mar 15, 2024
FOXG1 disorder1Mar 19, 2024
Fabry disease11Sep 8, 2024
Factor 5 and Factor VIII, combined deficiency of, 2104Feb 20, 2020
Factor V and factor VIII, combined deficiency of, type 191Feb 20, 2020
Factor V deficiency195Feb 20, 2020
Factor VII deficiency70Feb 20, 2020
Factor VII-activating protease marburg I94Feb 20, 2020
Factor X deficiency3Feb 20, 2020
Factor XII deficiency disease34Feb 20, 2020
Factor XIII, A subunit, deficiency of70Feb 20, 2020
Factor XIII, b subunit, deficiency of42Feb 20, 2020
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome23Feb 20, 2020
Familial Mediterranean fever112Nov 6, 2023
Familial X-linked hypophosphatemic vitamin D refractory rickets44Nov 6, 2023
Familial adenomatous polyposis 253Jul 29, 2024
Familial amyloid nephropathy with urticaria AND deafness86Feb 20, 2020
Familial apolipoprotein C-II deficiency20Feb 20, 2020
Familial benign pemphigus65Feb 20, 2020
Familial cancer of breast55Feb 20, 2020
Familial cold autoinflammatory syndrome 187Feb 20, 2020
Familial cold autoinflammatory syndrome 2104Feb 20, 2020
Familial cylindromatosis109Feb 20, 2020
Familial dysautonomia151Feb 20, 2020
Familial encephalopathy with neuroserpin inclusion bodies30Feb 20, 2020
Familial hemophagocytic lymphohistiocytosis1Oct 18, 2016
Familial hemophagocytic lymphohistiocytosis 271Feb 20, 2020
Familial hemophagocytic lymphohistiocytosis 3129Feb 20, 2020
Familial hemophagocytic lymphohistiocytosis 4110Feb 20, 2020
Familial hemophagocytic lymphohistiocytosis 548Feb 20, 2020
Familial hyperaldosteronism type III74Feb 20, 2020
Familial hyperinsulinism114Feb 20, 2020
Familial hyperthyroidism due to mutations in TSH receptor82Feb 20, 2020
Familial hypobetalipoproteinemia 1265Apr 22, 2025
Familial hypocalciuric hypercalcemia 160Jun 1, 2022
Familial hypokalemia-hypomagnesemia180Dec 20, 2021
Familial hypoparathyroidism121Feb 20, 2020
Familial infantile myoclonic epilepsy178Feb 20, 2020
Familial isolated deficiency of vitamin E54Feb 20, 2020
Familial juvenile hyperuricemic nephropathy type 134Feb 20, 2020
Familial juvenile hyperuricemic nephropathy type 228Feb 20, 2020
Familial multiple trichoepitheliomata109Feb 20, 2020
Familial partial lipodystrophy, Dunnigan type40Feb 20, 2020
Familial porphyria cutanea tarda24Feb 20, 2020
Familial renal glucosuria60Feb 20, 2020
Familial restrictive cardiomyopathy24Feb 20, 2020
Familial spontaneous pneumothorax89Feb 20, 2020
Familial temporal lobe epilepsy 547Feb 20, 2020
Familial thoracic aortic aneurysm and aortic dissection195Apr 22, 2025
Familial type 5 hyperlipoproteinemia1Apr 22, 2025
Familial visceral amyloidosis, Ostertag type90Feb 20, 2020
Fanconi anemia1Oct 18, 2016
Fanconi anemia complementation group A190Feb 20, 2020
Fanconi anemia complementation group B42Feb 20, 2020
Fanconi anemia complementation group C111Feb 20, 2020
Fanconi anemia complementation group D1201Mar 19, 2024
Fanconi anemia complementation group D2119Dec 14, 2020
Fanconi anemia complementation group E61Nov 6, 2023
Fanconi anemia complementation group F71Feb 20, 2020
Fanconi anemia complementation group G51Nov 15, 2023
Fanconi anemia complementation group I136Dec 14, 2020
Fanconi anemia complementation group J135Feb 20, 2020
Fanconi anemia complementation group L43Feb 20, 2020
Fanconi anemia complementation group N68Feb 20, 2020
Fanconi anemia complementation group O13Feb 20, 2020
Fanconi anemia complementation group P231Feb 20, 2020
Fanconi-Bickel syndrome63Feb 20, 2020
Farber lipogranulomatosis82Feb 20, 2020
Fatal infantile hypertonic myofibrillar myopathy14Feb 20, 2020
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 344Feb 20, 2020
Fatal multiple mitochondrial dysfunctions syndrome1Oct 18, 2016
Fetal akinesia deformation sequence 147Feb 20, 2020
Fetal hemoglobin quantitative trait locus 125Feb 20, 2020
Fibrochondrogenesis 1157Feb 20, 2020
Fibrochondrogenesis 2141Feb 20, 2020
Fibromatosis, gingival, 1131Feb 20, 2020
Fibrous dysplasia of jaw116Feb 20, 2020
Finnish congenital nephrotic syndrome9Nov 15, 2023
Finnish type amyloidosis74Feb 20, 2020
Fleck corneal dystrophy154Feb 20, 2020
Floating-Harbor syndrome2Jun 29, 2023
Focal segmental glomerulosclerosis 288Feb 20, 2020
Focal segmental glomerulosclerosis 3, susceptibility to97Feb 20, 2020
Focal segmental glomerulosclerosis 5124Feb 20, 2020
Focal segmental glomerulosclerosis and neurodevelopmental syndrome1Nov 6, 2023
Foveal hypoplasia 1111Feb 20, 2020
Frank-Ter Haar syndrome189Feb 20, 2020
Fraser syndrome 1423Feb 20, 2020
Fraser syndrome 2341Feb 20, 2020
Fraser syndrome 382Feb 20, 2020
Freeman-Sheldon syndrome155Feb 20, 2020
Frontometaphyseal dysplasia 21Dec 14, 2020
Frontotemporal dementia and/or amyotrophic lateral sclerosis 166Feb 20, 2020
Frontotemporal dementia and/or amyotrophic lateral sclerosis 650Feb 20, 2020
Frontotemporal dementia and/or amyotrophic lateral sclerosis 745Feb 20, 2020
Fructose-biphosphatase deficiency49Feb 20, 2020
Fucosidosis35Feb 20, 2020
Fumarase deficiency40Dec 13, 2022
G6PD deficiency45Jun 29, 2023
GABRA4-related developmental and epileptic encephalopathy1Jan 12, 2024
GABRB2-related epileptic encephalopathy1Aug 9, 2021
GABRB2-related neurodevelopmental disorders1Dec 20, 2021
GARS-Associated Axonal Neuropathy1Jul 16, 2020
GARS1-related neuropathies1Jul 16, 2020
GATAD2B-related intellectual disability syndrome2Dec 14, 2020
GBE1-related disorder4Feb 1, 2019
GDAP1-related disorder1Feb 1, 2019
GEMIN5-related neurodevelopmental disorder1Dec 16, 2021
GFPT1-related myasthenic syndrome1Jun 1, 2022
GJB1-related disorder1Dec 16, 2021
GJB2-related disorder2Feb 1, 2019
GLI2-related disorder1Dec 14, 2020
GM1 gangliosidosis57Feb 3, 2026
GM3 synthase deficiency55Mar 19, 2024
GNAO1-related developmental delay-seizures-movement disorder spectrum1Apr 12, 2024
GNE myopathy41Apr 22, 2025
GNPTAB-Related Disorders3Dec 14, 2022
GNPTG-mucolipidosis43Feb 20, 2020
GPSM2-related disorder3Feb 1, 2019
GRACILE syndrome21Feb 20, 2020
GRIA3-related complex neurodevelopmental disorder2Dec 16, 2021
GRIA4-related neurodevelopmental disorder2Dec 14, 2020
GRIN2A-Related Speech Disorders and Epilepsy1Feb 3, 2026
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions52Feb 20, 2020
GTP cyclohydrolase I deficiency67Feb 20, 2020
GTP cyclohydrolase I deficiency with hyperphenylalaninemia1Apr 12, 2024
Galactosemia1Nov 6, 2023
Galactosylceramide beta-galactosidase deficiency98Nov 15, 2023
Gamma-aminobutyric acid transaminase deficiency142Feb 20, 2020
Gastrointestinal defects and immunodeficiency syndrome 12Sep 19, 2023
Gastrointestinal stromal tumor212Feb 20, 2020
Gaucher disease4Feb 3, 2026
Gaucher disease due to saposin C deficiency68Feb 20, 2020
Gaucher disease type I3Jun 29, 2023
Gaze palsy, familial horizontal, with progressive scoliosis 1104Feb 20, 2020
Gelatinous droplike corneal dystrophy44Feb 20, 2020
Geleophysic dysplasia118Feb 20, 2020
Geleophysic dysplasia 1128Feb 20, 2020
Generalized epilepsy with febrile seizures plus1Jun 1, 2022
Generalized epilepsy with febrile seizures plus, type 141Aug 9, 2021
Generalized epilepsy with febrile seizures plus, type 299Feb 20, 2020
Generalized epilepsy-paroxysmal dyskinesia syndrome102Feb 20, 2020
Generalized juvenile polyposis/juvenile polyposis coli234Feb 20, 2020
Generalized pustular psoriasis63Feb 20, 2020
Genitourinary and/or brain malformation syndrome1Dec 14, 2020
Geroderma osteodysplastica51Feb 20, 2020
Giant axonal neuropathy 1113Sep 19, 2023
Gilbert syndrome43Feb 20, 2020
Glanzmann thrombasthenia163Feb 20, 2020
Glaucoma47Feb 20, 2020
Glaucoma 1, open angle, A47Feb 20, 2020
Glaucoma 3, primary congenital, D200Feb 20, 2020
Glaucoma 3A111Feb 20, 2020
Global developmental delay with or without impaired intellectual development1Feb 3, 2026
Global developmental delay with speech and behavioral abnormalities1Apr 7, 2025
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies1Apr 22, 2025
Glomuvenous malformation37Feb 20, 2020
Glucocorticoid deficiency 1101Feb 20, 2020
Glucocorticoid deficiency 225Feb 20, 2020
Glucocorticoid deficiency with achalasia17Feb 20, 2020
Glucocorticoid resistance110Feb 20, 2020
Glucocorticoid-remediable aldosteronism205Feb 20, 2020
Glutaric aciduria, type 141Feb 20, 2020
Glycine encephalopathy158Dec 14, 2020
Glycogen storage disease IXa11Jul 16, 2020
Glycogen storage disease IXb106Feb 20, 2020
Glycogen storage disease IXc34Feb 20, 2020
Glycogen storage disease IXd53Feb 20, 2020
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA94Feb 20, 2020
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency26Feb 20, 2020
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency48Feb 20, 2020
Glycogen storage disease due to muscle and heart glycogen synthase deficiency72Feb 20, 2020
Glycogen storage disease due to muscle beta-enolase deficiency27Feb 20, 2020
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1Nov 15, 2023
Glycogen storage disease type III119Apr 22, 2025
Glycogen storage disease type X24Feb 20, 2020
Glycogen storage disease, type I44Feb 20, 2020
Glycogen storage disease, type II131Apr 22, 2025
Glycogen storage disease, type IV64Feb 20, 2020
Glycogen storage disease, type V75Feb 3, 2026
Glycogen storage disease, type VI51Feb 20, 2020
Glycogen storage disease, type VII42Feb 20, 2020
Glycogen storage disorder due to hepatic glycogen synthase deficiency70Feb 20, 2020
Glycosylphosphatidylinositol biosynthesis defect 212Mar 19, 2024
Goldberg-Shprintzen syndrome41Feb 20, 2020
Gonadotropin-independent familial sexual precocity58Feb 20, 2020
Gorlin syndrome182Jul 16, 2020
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 242Feb 20, 2020
Gray platelet syndrome199Feb 20, 2020
Grebe syndrome39Feb 20, 2020
Greenberg dysplasia85Feb 20, 2020
Greig cephalopolysyndactyly syndrome190Feb 20, 2020
Griscelli syndrome type 290Feb 20, 2020
Growth delay due to insulin-like growth factor I resistance370Feb 20, 2020
Growth delay due to insulin-like growth factor type 1 deficiency121Feb 20, 2020
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant1Dec 16, 2021
H syndrome63Feb 20, 2020
HADHA-related disorder3Feb 1, 2019
HBB-related disorder3Jun 1, 2022
HBD-related disorder1Feb 20, 2020
HECW2-related neurodevelopmental disorder1Dec 14, 2020
HIVEP2-related syndromic intellectual disability1Dec 14, 2020
HNRNPU-related developmental and epileptic encephalopathy1Aug 9, 2021
HPGD-related disorder1Feb 1, 2019
HSD17B4-related disorder1Feb 1, 2019
HSPB1-related axonal neuropathies2Dec 20, 2021
HSPB1-related disorder1Feb 1, 2019
HSPB8-related neuromuscular disorder1Apr 12, 2024
HTRA1-related cerebral small vessel disease1Feb 1, 2019
Haim-Munk syndrome44Feb 20, 2020
Hao-Fountain syndrome1Oct 7, 2021
Harel-Yoon syndrome7Feb 3, 2026
Hartsfield-Bixler-Demyer syndrome1Nov 15, 2023
Hawkinsinuria29Feb 20, 2020
Hb SS disease17Apr 22, 2025
Hearing loss, X-linked 123Feb 20, 2020
Hearing loss, X-linked 48Feb 20, 2020
Hearing loss, autosomal recessive3Apr 1, 2020
Hecht syndrome108Feb 20, 2020
Hemochromatosis type 143Jun 29, 2023
Hemochromatosis type 2A45Feb 20, 2020
Hemochromatosis type 2B8Feb 20, 2020
Hemochromatosis type 382Feb 20, 2020
Hemochromatosis type 446Feb 20, 2020
Hemochromatosis type 518Feb 20, 2020
Hemoglobin E14Feb 20, 2020
Hemoglobin E disease1Feb 1, 2019
Hemolytic anemia121Feb 20, 2020
Hemolytic uremic syndrome, atypical, susceptibility to, 182Feb 3, 2026
Hennekam lymphangiectasia-lymphedema syndrome 1188Feb 20, 2020
Hepatic methionine adenosyltransferase deficiency85Feb 20, 2020
Hepatic veno-occlusive disease-immunodeficiency syndrome58Feb 20, 2020
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 166Feb 20, 2020
Hereditary North American Indian childhood cirrhosis38Feb 20, 2020
Hereditary acrodermatitis enteropathica74Feb 20, 2020
Hereditary angioedema type 140Feb 20, 2020
Hereditary angioedema type 339Feb 20, 2020
Hereditary antithrombin deficiency22Feb 20, 2020
Hereditary breast ovarian cancer syndrome2Oct 18, 2016
Hereditary cancer-predisposing syndrome5Apr 22, 2025
Hereditary coproporphyria76Feb 20, 2020
Hereditary diffuse gastric adenocarcinoma99Feb 20, 2020
Hereditary diffuse leukoencephalopathy with spheroids124Dec 16, 2021
Hereditary factor I deficiency disease1Aug 9, 2021
Hereditary factor IX deficiency disease29Feb 20, 2020
Hereditary factor VIII deficiency disease65Dec 14, 2020
Hereditary factor X deficiency disease30Feb 20, 2020
Hereditary factor XI deficiency disease80Jun 11, 2024
Hereditary fructosuria62Feb 20, 2020
Hereditary hyperferritinemia with congenital cataracts19Feb 20, 2020
Hereditary insensitivity to pain with anhidrosis74Feb 20, 2020
Hereditary intrinsic factor deficiency30Feb 20, 2020
Hereditary leiomyomatosis and renal cell cancer39Apr 22, 2025
Hereditary liability to pressure palsies31Feb 20, 2020
Hereditary motor and sensory neuropathy with optic atrophy98Feb 20, 2020
Hereditary pancreatitis57Feb 3, 2026
Hereditary pheochromocytoma and paraganglioma195Feb 20, 2020
Hereditary sensory and autonomic neuropathy type 61Aug 9, 2021
Hereditary sensory and autonomic neuropathy with spastic paraplegia93Feb 20, 2020
Hereditary sensory neuropathy-deafness-dementia syndrome101Feb 20, 2020
Hereditary spastic paraplegia 1068Feb 20, 2020
Hereditary spastic paraplegia 11147Apr 8, 2025
Hereditary spastic paraplegia 1215Feb 20, 2020
Hereditary spastic paraplegia 1339Feb 20, 2020
Hereditary spastic paraplegia 15197Feb 20, 2020
Hereditary spastic paraplegia 21Dec 20, 2021
Hereditary spastic paraplegia 30198Feb 20, 2020
Hereditary spastic paraplegia 3167Nov 6, 2023
Hereditary spastic paraplegia 3372Feb 20, 2020
Hereditary spastic paraplegia 3565Feb 20, 2020
Hereditary spastic paraplegia 39116Feb 20, 2020
Hereditary spastic paraplegia 3A43Nov 6, 2023
Hereditary spastic paraplegia 494Feb 20, 2020
Hereditary spastic paraplegia 48277Feb 20, 2020
Hereditary spastic paraplegia 501Sep 19, 2023
Hereditary spastic paraplegia 5A36Feb 20, 2020
Hereditary spastic paraplegia 6135Feb 20, 2020
Hereditary spastic paraplegia 782Feb 20, 2020
Hereditary spastic paraplegia 751Feb 3, 2026
Hereditary spastic paraplegia 873Feb 20, 2020
Hereditary spherocytosis type 1215Apr 7, 2025
Hereditary spherocytosis type 21Aug 9, 2021
Hereditary spherocytosis type 3244Feb 20, 2020
Hereditary spherocytosis type 4121Feb 20, 2020
Hereditary spherocytosis type 544Feb 20, 2020
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1128Feb 20, 2020
Hereditary thrombophilia due to congenital protein C deficiency1Mar 19, 2024
Hereditary von Willebrand disease46Jun 29, 2023
Hereditary xanthinuria type 1173Feb 20, 2020
Hermansky-Pudlak syndrome 1104Feb 20, 2020
Hermansky-Pudlak syndrome 268Feb 20, 2020
Hermansky-Pudlak syndrome 389Feb 20, 2020
Hermansky-Pudlak syndrome 4106Feb 20, 2020
Hermansky-Pudlak syndrome 5101Feb 20, 2020
Hermansky-Pudlak syndrome 650Feb 20, 2020
Heterotaxy, visceral, 1, X-linked20Apr 22, 2025
Heterotaxy, visceral, 4, autosomal218Feb 20, 2020
Heterotaxy, visceral, 5, autosomal47Feb 20, 2020
Hidrotic ectodermal dysplasia syndrome53Feb 20, 2020
Hirschsprung disease, susceptibility to, 1127Feb 20, 2020
Hirschsprung disease, susceptibility to, 273Feb 20, 2020
Hirschsprung disease, susceptibility to, 380Feb 20, 2020
Hirschsprung disease, susceptibility to, 465Feb 20, 2020
Histidinemia99Feb 20, 2020
Histiocytic medullary reticulosis236Feb 20, 2020
Holocarboxylase synthetase deficiency126Feb 20, 2020
Holoprosencephaly 11207Feb 20, 2020
Holoprosencephaly 21Dec 14, 2020
Holoprosencephaly 32Mar 19, 2024
Holoprosencephaly 49Feb 20, 2020
Holoprosencephaly 7182Feb 20, 2020
Holoprosencephaly 9140Feb 20, 2020
Holoprosencephaly sequence111Mar 19, 2024
Holoprosencephaly spectrum disorder1Jun 1, 2022
Holoprosencephaly-hypokinesia-congenital contractures syndrome1Mar 19, 2024
Holt-Oram syndrome99Dec 14, 2020
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1Jul 16, 2020
Houge-Janssens syndrome 11Feb 3, 2026
Houge-Janssens syndrome 22Jun 1, 2022
Hoyeraal-Hreidarsson syndrome1Mar 19, 2024
Hutchinson-Gilford syndrome21Feb 20, 2020
Hyaline fibromatosis syndrome140Feb 20, 2020
Hydatidiform mole, recurrent, 1105Feb 20, 2020
Hyper-IgE recurrent infection syndrome 1, autosomal dominant66Feb 20, 2020
Hyper-IgM syndrome type 256Feb 20, 2020
Hyper-IgM syndrome type 330Feb 20, 2020
Hyper-IgM syndrome type 554Feb 20, 2020
Hyperalphalipoproteinemia 150Apr 22, 2025
Hyperammonemia, type III35Feb 20, 2020
Hypercalcemia, infantile, 193Sep 8, 2024
Hypercholanemia, familial 180Feb 20, 2020
Hypercholesterolemia, autosomal dominant, 3108Feb 20, 2020
Hypercholesterolemia, autosomal dominant, type B289Apr 22, 2025
Hypercholesterolemia, familial, 1167Feb 3, 2026
Hypercholesterolemia, familial, 483Feb 20, 2020
Hyperekplexia 138Aug 9, 2021
Hyperekplexia 260Feb 20, 2020
Hyperekplexia 35Feb 20, 2020
Hyperglycinuria147Feb 20, 2020
Hyperimmunoglobulin D with periodic fever54Feb 20, 2020
Hyperinsulinemic hypoglycemia, familial, 1113Feb 3, 2026
Hyperinsulinemic hypoglycemia, familial, 264Feb 20, 2020
Hyperinsulinemic hypoglycemia, familial, 358Feb 20, 2020
Hyperinsulinemic hypoglycemia, familial, 443Feb 20, 2020
Hyperinsulinism-hyperammonemia syndrome48Nov 6, 2023
Hyperkalemic periodic paralysis198Feb 20, 2020
Hyperlipidemia due to hepatic triglyceride lipase deficiency52Feb 20, 2020
Hyperlipoproteinemia, type I97Feb 20, 2020
Hypermanganesemia with dystonia, polycythemia, and cirrhosis43Feb 20, 2020
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase38Feb 20, 2020
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome92Feb 3, 2026
Hyperparathyroidism45Feb 20, 2020
Hyperparathyroidism 197Feb 20, 2020
Hyperparathyroidism 2 with jaw tumors97Feb 20, 2020
Hyperphosphatasemia with bone disease48Mar 19, 2024
Hyperphosphatasia with intellectual disability syndrome 146Feb 20, 2020
Hyperphosphatasia with intellectual disability syndrome 265Dec 14, 2020
Hyperprolinemia type 2106Feb 20, 2020
Hyperthyroxinemia, familial dysalbuminemic53Feb 20, 2020
Hypertrichotic osteochondrodysplasia Cantu type60Dec 14, 2020
Hypertrophic cardiomyopathy 1130Feb 3, 2026
Hypertrophic cardiomyopathy 1024Apr 22, 2025
Hypertrophic cardiomyopathy 1176Apr 8, 2025
Hypertrophic cardiomyopathy 1232Apr 22, 2025
Hypertrophic cardiomyopathy 1311Feb 20, 2020
Hypertrophic cardiomyopathy 223Feb 20, 2020
Hypertrophic cardiomyopathy 2519Feb 20, 2020
Hypertrophic cardiomyopathy 329Feb 20, 2020
Hypertrophic cardiomyopathy 4115Feb 3, 2026
Hypertrophic cardiomyopathy 679Feb 20, 2020
Hypertrophic cardiomyopathy 731Apr 7, 2025
Hypertrophic cardiomyopathy 816Feb 20, 2020
Hypertrophic osteoarthropathy, primary, autosomal recessive, 154Feb 20, 2020
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome58Feb 20, 2020
Hypoalphalipoproteinemia, primary, 1254Feb 20, 2020
Hypobetalipoproteinemia103Feb 13, 2025
Hypogonadotropic hypogonadism 11 with or without anosmia37Feb 20, 2020
Hypogonadotropic hypogonadism 12 with or without anosmia17Feb 20, 2020
Hypogonadotropic hypogonadism 14 with or without anosmia1Mar 19, 2024
Hypogonadotropic hypogonadism 2 with or without anosmia137Feb 20, 2020
Hypogonadotropic hypogonadism 24 without anosmia25Feb 20, 2020
Hypogonadotropic hypogonadism 27 without anosmia1Dec 13, 2022
Hypogonadotropic hypogonadism 3 with or without anosmia35Feb 3, 2026
Hypogonadotropic hypogonadism 5 with or without anosmia202Feb 20, 2020
Hypogonadotropic hypogonadism 7 with or without anosmia99Feb 20, 2020
Hypogonadotropic hypogonadism 8 with or without anosmia1Mar 19, 2024
Hypohidrotic Ectodermal Dysplasia, Dominant2Feb 20, 2020
Hypohidrotic ectodermal dysplasia161Feb 20, 2020
Hypokalemic periodic paralysis, type 1194Feb 20, 2020
Hypokalemic periodic paralysis, type 2198Feb 20, 2020
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism64Feb 20, 2020
Hypomyelination and Congenital Cataract116Aug 9, 2021
Hypoparathyroidism, deafness, renal disease syndrome71Feb 20, 2020
Hypoparathyroidism, familial isolated, 22Feb 3, 2026
Hypoparathyroidism-retardation-dysmorphism syndrome51Feb 20, 2020
Hypophosphatasia68Dec 13, 2022
Hypophosphatemic nephrolithiasis/osteoporosis 157Feb 20, 2020
Hypophosphatemic rickets, autosomal recessive, 162Feb 20, 2020
Hypophosphatemic rickets, autosomal recessive, 2170Feb 20, 2020
Hypoplasia of the iris61Feb 20, 2020
Hypoplastic left heart syndrome 155Feb 20, 2020
Hypothyroidism due to TSH receptor mutations87Feb 13, 2025
Hypothyroidism, congenital, nongoitrous, 295Mar 19, 2024
Hypotonia with lactic acidemia and hyperammonemia19Feb 20, 2020
Hypotonia, ataxia, and delayed development syndrome1Jun 29, 2023
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome1Mar 19, 2024
Hypotonia, infantile, with psychomotor retardation and characteristic facies 23Nov 6, 2023
Hypotrichosis 698Feb 20, 2020
Hypouricemia, renal, 262Feb 20, 2020
IFIH1-related interferonopathy1Nov 15, 2023
IMAGe syndrome1Dec 14, 2020
INSULIN RESISTANCE, DIGENIC19Feb 20, 2020
IQSEC2-related X-linked neurodevelopmental disorder1Aug 9, 2021
ITPR1-related syndromic and non-syndromic hereditary ataxias3Dec 13, 2022
Ichthyosis bullosa of Siemens69Feb 20, 2020
Ichthyosis vulgaris2Nov 6, 2023
Ichthyosis, hystrix-like, with hearing loss59Feb 20, 2020
Idiopathic basal ganglia calcification 181Feb 20, 2020
Idiopathic hypereosinophilic syndrome125Feb 20, 2020
Imerslund-Grasbeck syndrome type 1331Feb 20, 2020
Immunodeficiency 104106Feb 20, 2020
Immunodeficiency 1832Feb 20, 2020
Immunodeficiency 1913Feb 20, 2020
Immunodeficiency 27A56Feb 20, 2020
Immunodeficiency 35125Feb 20, 2020
Immunodeficiency 471Mar 19, 2024
Immunodeficiency 51193Feb 20, 2020
Immunodeficiency 601Dec 14, 2020
Immunodeficiency 6779Feb 20, 2020
Immunodeficiency 951Apr 22, 2025
Immunodeficiency due to CD25 deficiency85Feb 20, 2020
Immunodeficiency due to MASP-2 deficiency66Feb 20, 2020
Immunodeficiency, common variable, 152Feb 20, 2020
Immunodeficiency, common variable, 121Dec 16, 2021
Immunodeficiency, common variable, 339Feb 20, 2020
Immunodeficiency, common variable, 425Feb 20, 2020
Immunodeficiency-centromeric instability-facial anomalies syndrome 1109Feb 20, 2020
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 150Feb 20, 2020
Infantile convulsions and choreoathetosis1Nov 6, 2023
Infantile cortical hyperostosis134Feb 20, 2020
Infantile nephronophthisis64Feb 20, 2020
Infantile neuroaxonal dystrophy2Dec 14, 2020
Infantile onset spinocerebellar ataxia68Feb 20, 2020
Infantile-onset X-linked spinal muscular atrophy32Feb 20, 2020
Infertility associated with multi-tailed spermatozoa and excessive DNA24Feb 20, 2020
Inflammatory bowel disease 1123Feb 20, 2020
Inflammatory bowel disease 2532Feb 20, 2020
Inflammatory bowel disease 2893Feb 20, 2020
Inherited glutathione synthetase deficiency36Feb 20, 2020
Inherited obesity1Dec 16, 2021
Inherited prion disease48Feb 20, 2020
Insulin-resistant diabetes mellitus AND acanthosis nigricans200Feb 20, 2020
Intellectual developmental disorder 611Mar 19, 2024
Intellectual developmental disorder 622Nov 15, 2023
Intellectual developmental disorder with autism and macrocephaly2Feb 3, 2026
Intellectual developmental disorder with autistic features and language delay, with or without seizures2Mar 19, 2024
Intellectual developmental disorder with dysmorphic facies and ptosis1Dec 14, 2020
Intellectual developmental disorder with seizures and language delay2Apr 12, 2024
Intellectual developmental disorder with severe speech and ambulation defects1Feb 3, 2026
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1Jul 14, 2023
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities1Dec 20, 2021
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly1Feb 3, 2026
Intellectual developmental disorder, autosomal dominant 651Jun 1, 2022
Intellectual disability, X-linked 1025Mar 19, 2024
Intellectual disability, X-linked 1042Mar 19, 2024
Intellectual disability, X-linked 1051Feb 3, 2026
Intellectual disability, X-linked 1062Feb 3, 2026
Intellectual disability, X-linked 1071Mar 19, 2024
Intellectual disability, X-linked 2124Feb 20, 2020
Intellectual disability, X-linked 3020Feb 20, 2020
Intellectual disability, X-linked 491Dec 20, 2021
Intellectual disability, X-linked 7226Feb 20, 2020
Intellectual disability, X-linked 9395Mar 19, 2024
Intellectual disability, X-linked 961Mar 19, 2024
Intellectual disability, X-linked 9729Feb 20, 2020
Intellectual disability, X-linked 991Nov 15, 2023
Intellectual disability, X-linked syndromic, Turner type5Mar 19, 2024
Intellectual disability, X-linked, syndromic 332Nov 15, 2023
Intellectual disability, X-linked, with or without seizures, ARX-related1Dec 14, 2020
Intellectual disability, autosomal dominant 132Feb 3, 2026
Intellectual disability, autosomal dominant 143Dec 14, 2020
Intellectual disability, autosomal dominant 151Apr 22, 2025
Intellectual disability, autosomal dominant 164Mar 19, 2024
Intellectual disability, autosomal dominant 421Jun 29, 2023
Intellectual disability, autosomal dominant 431Mar 19, 2024
Intellectual disability, autosomal dominant 461Feb 3, 2026
Intellectual disability, autosomal dominant 51Apr 7, 2025
Intellectual disability, autosomal dominant 501Mar 19, 2024
Intellectual disability, autosomal dominant 521Jun 29, 2023
Intellectual disability, autosomal dominant 541Dec 20, 2021
Intellectual disability, autosomal dominant 562Dec 16, 2021
Intellectual disability, autosomal dominant 573Nov 15, 2023
Intellectual disability, autosomal dominant 62Mar 19, 2024
Intellectual disability, autosomal recessive 188Feb 20, 2020
Intellectual disability, autosomal recessive 1311Feb 20, 2020
Intellectual disability, autosomal recessive 564Feb 20, 2020
Intellectual disability, autosomal recessive 581Nov 6, 2023
Intellectual disability, autosomal recessive 651Feb 3, 2026
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1Apr 22, 2025
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome4Sep 19, 2023
Intellectual disability-severe speech delay-mild dysmorphism syndrome3Feb 3, 2026
Interstitial lung disease 228Feb 20, 2020
Interstitial lung disease due to ABCA3 deficiency198Feb 20, 2020
Intestinal hypomagnesemia 1140Feb 20, 2020
Intrinsic cardiomyopathy1Nov 6, 2023
Iodotyrosyl coupling defect250Feb 20, 2020
Irido-corneo-trabecular dysgenesis167Feb 20, 2020
Isolated Coronal Synostosis93Feb 20, 2020
Isolated GnRH Deficiency2Oct 18, 2016
Isolated Nonsyndromic Congenital Heart Disease123Feb 20, 2020
Isolated congenital digital clubbing54Feb 20, 2020
Isolated focal cortical dysplasia type II200Feb 20, 2020
Isolated focal non-epidermolytic palmoplantar keratoderma191Feb 20, 2020
Isolated growth hormone deficiency type IB47Feb 20, 2020
Isolated microphthalmia 277Feb 20, 2020
Isolated microphthalmia 378Feb 20, 2020
Isolated microphthalmia 586Feb 20, 2020
Isolated thyroid-stimulating hormone deficiency5Feb 20, 2020
Isovaleryl-CoA dehydrogenase deficiency87Feb 20, 2020
Jalili syndrome81Feb 20, 2020
Jervell and Lange-Nielsen syndrome 199Feb 20, 2020
Jervell and Lange-Nielsen syndrome 293Feb 20, 2020
Johanson-Blizzard syndrome2Dec 20, 2021
Joubert syndrome 175Feb 20, 2020
Joubert syndrome 1334Feb 20, 2020
Joubert syndrome 14103Feb 20, 2020
Joubert syndrome 15124Feb 20, 2020
Joubert syndrome 1627Feb 20, 2020
Joubert syndrome 17186Feb 20, 2020
Joubert syndrome 235Feb 20, 2020
Joubert syndrome 2473Feb 20, 2020
Joubert syndrome 3114Feb 3, 2026
Joubert syndrome 5130Feb 20, 2020
Joubert syndrome 661Feb 20, 2020
Joubert syndrome 7125Feb 20, 2020
Joubert syndrome 9109Feb 20, 2020
Joubert syndrome with renal defect46Feb 20, 2020
Joubert-orofaciodigital syndrome1Aug 9, 2021
Junctional epidermolysis bullosa296Feb 20, 2020
Junctional epidermolysis bullosa gravis of Herlitz122Feb 20, 2020
Junctional epidermolysis bullosa with pyloric atresia287Feb 20, 2020
Junctional epidermolysis bullosa, non-Herlitz type160Feb 20, 2020
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome172Feb 20, 2020
KBG syndrome4Mar 19, 2024
KCNA1-related disorder1Dec 16, 2021
KCNE2-related disorder1Feb 1, 2019
KCNH1-related disorder1Apr 1, 2020
KCNQ1-related disorder1Feb 1, 2019
KCNQ2-Related Disorders6Apr 22, 2025
KDM5C-related X-linked syndromic intellectual disability1Aug 9, 2021
KDM6B-related neurodevelopmental disorder1Aug 9, 2021
KIF1A-related disorder1Dec 14, 2020
KIF3C-related neurodevelopmental disorder1Nov 15, 2023
KIF5A-related amyotrophic lateral sclerosis1Jun 1, 2022
KIF5A-related intractable neonatal myoclonus1Dec 13, 2022
KIF7-related ciliopathy spectrum disorder2Jul 16, 2020
KMT2B-related disorder1Dec 16, 2021
KMT2C-related disorder3Dec 14, 2020
KMT2D-related disorder1Mar 15, 2024
KMT5B-related neurodevelopmental disorder1Jul 16, 2020
Kabuki Syndrome - KDM6A1Jul 16, 2020
Kabuki syndrome 19Mar 19, 2024
Kartagener syndrome46Feb 20, 2020
Keratosis follicularis82Feb 20, 2020
Keutel syndrome27Feb 20, 2020
Kindler syndrome146Feb 20, 2020
Kleefstra syndrome 21Mar 19, 2024
Klippel-Feil syndrome 1, autosomal dominant79Feb 20, 2020
Knobloch syndrome184Feb 20, 2020
Koolen-de Vries syndrome1Apr 1, 2020
Kostmann syndrome21Feb 20, 2020
Krabbe disease due to saposin A deficiency68Feb 20, 2020
Kufor-Rakeb syndrome112Feb 20, 2020
LAMB2-related infantile-onset nephrotic syndrome116Feb 20, 2020
LCAT deficiency22Feb 20, 2020
LEOPARD syndrome 183Feb 20, 2020
LEOPARD syndrome 263Feb 20, 2020
LEOPARD syndrome 337Feb 20, 2020
LEPR-related disorder1Feb 1, 2019
LIG4-related disorder1Feb 1, 2019
LIPA-related disorder1Feb 1, 2019
LZTR1-related schwannomatosis3Nov 6, 2023
Lafora disease46Feb 20, 2020
Landau-Kleffner syndrome271Apr 1, 2020
Laron-type isolated somatotropin defect89Feb 20, 2020
Laryngo-onycho-cutaneous syndrome122Feb 20, 2020
Late-onset retinal degeneration87Feb 20, 2020
Lathosterolosis116Feb 20, 2020
Leber congenital amaurosis 10130Feb 20, 2020
Leber congenital amaurosis 1174Feb 20, 2020
Leber congenital amaurosis 12104Feb 20, 2020
Leber congenital amaurosis 1478Feb 20, 2020
Leber congenital amaurosis 1542Feb 20, 2020
Leber congenital amaurosis 1650Feb 20, 2020
Leber congenital amaurosis 266Dec 14, 2020
Leber congenital amaurosis 349Feb 20, 2020
Leber congenital amaurosis 496Feb 20, 2020
Leber congenital amaurosis 5100Feb 20, 2020
Leber congenital amaurosis 684Feb 20, 2020
Leber congenital amaurosis 7129Feb 20, 2020
Leber congenital amaurosis 869Feb 20, 2020
Left ventricular noncompaction 10102Dec 20, 2021
Left ventricular noncompaction 81Mar 19, 2024
Left-right axis malformations41Feb 20, 2020
Legius syndrome119Feb 20, 2020
Leigh syndrome762Dec 14, 2020
Leprechaunism syndrome201Feb 20, 2020
Lessel-Kreienkamp syndrome2Sep 19, 2023
Lethal Kniest-like syndrome457Feb 20, 2020
Lethal acantholytic epidermolysis bullosa168Feb 20, 2020
Lethal arthrogryposis-anterior horn cell disease syndrome56Feb 20, 2020
Lethal congenital contracture syndrome 156Feb 20, 2020
Lethal multiple pterygium syndrome185Feb 20, 2020
Lethal polymalformative syndrome, Boissel type99Feb 20, 2020
Lethal tight skin contracture syndrome86Feb 20, 2020
Leukocyte adhesion deficiency 1126Feb 20, 2020
Leukocyte adhesion deficiency type II73Feb 20, 2020
Leukodystrophy and acquired microcephaly with or without dystonia;2Mar 19, 2024
Leukodystrophy, hypomyelinating, 101Apr 7, 2025
Leukodystrophy, hypomyelinating, 111Feb 3, 2026
Leukodystrophy, hypomyelinating, 171Mar 15, 2024
Leukodystrophy, hypomyelinating, 182Mar 19, 2024
Leukodystrophy, hypomyelinating, 19, transient infantile1Feb 3, 2026
Leukodystrophy, hypomyelinating, 641Mar 19, 2024
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism162Feb 20, 2020
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism69Feb 20, 2020
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome42Feb 20, 2020
Leukoencephalopathy with calcifications and cysts5Nov 15, 2023
Leukoencephalopathy with vanishing white matter 51Nov 15, 2023
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome1Dec 20, 2021
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome78Feb 20, 2020
Leydig cell agenesis46Feb 20, 2020
Li-Fraumeni syndrome 147Jun 29, 2023
Liddle syndrome 162Dec 14, 2020
Liddle syndrome 266Feb 20, 2020
Limb-girdle muscular dystrophy, recessive2Oct 18, 2016
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules44Feb 20, 2020
Lissencephaly 101Dec 20, 2021
Lissencephaly 4123Feb 20, 2020
Lissencephaly 6 with microcephaly1Dec 16, 2021
Lissencephaly due to LIS1 mutation1Jun 29, 2023
Lissencephaly type 1 due to doublecortin gene mutation1Jul 14, 2023
Loeys-Dietz syndrome 162Feb 20, 2020
Loeys-Dietz syndrome 259Feb 20, 2020
Loeys-Dietz syndrome 4109Feb 20, 2020
Loeys-Dietz syndrome 61Dec 13, 2022
Long QT syndrome1Oct 18, 2016
Long QT syndrome 1105Feb 3, 2026
Long QT syndrome 1259Feb 20, 2020
Long QT syndrome 294Apr 7, 2025
Long QT syndrome 3177Feb 20, 2020
Long QT syndrome 591Feb 20, 2020
Long QT syndrome 617Feb 20, 2020
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency58Feb 20, 2020
Low phospholipid associated cholelithiasis2Feb 1, 2019
Lowe syndrome1Mar 19, 2024
Lucey-Driscoll syndrome41Feb 20, 2020
Lymphoproliferative syndrome 185Feb 20, 2020
Lynch syndrome 191Feb 20, 2020
Lynch syndrome 478Apr 22, 2025
Lynch syndrome 581Apr 22, 2025
Lysinuric protein intolerance59Feb 20, 2020
Lysosomal acid lipase deficiency53Feb 20, 2020
MAN1B1-related disorder1Apr 5, 2019
MAP2K1-related RASopathy1Apr 1, 2020
MAPT-Related Spectrum Disorders103Feb 20, 2020
MECP2-related disorder3Feb 3, 2026
MED12-related intellectual disability syndrome3Feb 3, 2026
MED12L-related neurodevelopmental disorder2Dec 13, 2022
MED13-related neurodevelopmental disorder1Apr 1, 2020
MED13L-related neurodevelopmental disorder3Aug 9, 2021
MEF2C-related complex neurodevelopmental disorder1Apr 1, 2020
MEGF10-related myopathy193Feb 20, 2020
MFN2-related disorder1Feb 1, 2019
MGAT2-congenital disorder of glycosylation56Feb 20, 2020
MHC class II deficiency258Feb 20, 2020
MKS1-related disorder1Feb 1, 2019
MORC2-related neurodevelopmental disorders1Dec 20, 2021
MPDU1-congenital disorder of glycosylation27Feb 20, 2020
MPI-congenital disorder of glycosylation49Feb 20, 2020
MPL-related disorder2Feb 1, 2019
MPV17-related disorder1Feb 1, 2019
MSX1-related selective tooth agenesis with or without orofacial cleft1Jun 1, 2022
MT-ATP6-related primary mitochondrial disease1Dec 13, 2022
MYBPC3-related disorder5Feb 20, 2020
MYH3-related disorder4Nov 15, 2023
MYH7-related disorder3Dec 20, 2021
MYH7-related skeletal myopathy121Feb 20, 2020
MYH9-related disorder196Feb 20, 2020
MYO7A-related disorder8Jul 16, 2020
MYOC-related disorder2Feb 1, 2019
Macrocephaly, acquired, with impaired intellectual development1Dec 14, 2020
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome1Aug 9, 2021
Macrothrombocytopenia, isolated, 1, autosomal dominant1Dec 16, 2021
Macular corneal dystrophy177Feb 20, 2020
Macular degeneration67Feb 20, 2020
Macular degeneration, age-related, 354Feb 20, 2020
Majeed syndrome184Feb 20, 2020
Malan overgrowth syndrome1Dec 14, 2020
Malignant hyperthermia, susceptibility to, 1409Feb 3, 2026
Mandibuloacral dysplasia with type A lipodystrophy44Feb 20, 2020
Mandibuloacral dysplasia with type B lipodystrophy42Feb 20, 2020
Mandibulofacial dysostosis-microcephaly syndrome3Mar 19, 2024
Mannose-binding lectin deficiency82Feb 20, 2020
Maple syrup urine disease280Feb 20, 2020
Maple syrup urine disease type 1A2Apr 22, 2025
Marfan syndrome201Apr 22, 2025
Marinesco-Sjögren syndrome42Feb 20, 2020
Marshall-Smith syndrome1Dec 14, 2020
Martsolf syndrome116Feb 20, 2020
Mast syndrome31Feb 20, 2020
Mastocytosis85Feb 20, 2020
Maturity-onset diabetes of the young type 1113Feb 20, 2020
Maturity-onset diabetes of the young type 1018Feb 20, 2020
Maturity-onset diabetes of the young type 1184Feb 20, 2020
Maturity-onset diabetes of the young type 1364Feb 20, 2020
Maturity-onset diabetes of the young type 258Feb 20, 2020
Maturity-onset diabetes of the young type 370Dec 13, 2022
Maturity-onset diabetes of the young type 649Feb 20, 2020
Maturity-onset diabetes of the young type 799Feb 20, 2020
McKusick-Kaufman syndrome57Feb 20, 2020
Meacham syndrome82Feb 20, 2020
Meckel syndrome, type 157Feb 20, 2020
Meckel syndrome, type 235Feb 20, 2020
Meckel syndrome, type 363Feb 20, 2020
Meckel syndrome, type 4130Feb 20, 2020
Meckel syndrome, type 5126Feb 20, 2020
Meckel syndrome, type 6110Feb 20, 2020
Meckel syndrome, type 874Feb 20, 2020
Meckel syndrome, type 916Feb 20, 2020
Medium-chain acyl-coenzyme A dehydrogenase deficiency35Aug 9, 2021
Medulloblastoma91Feb 20, 2020
Meester-Loeys syndrome1Mar 19, 2024
Megaconial type congenital muscular dystrophy38Feb 20, 2020
Megalencephalic leukoencephalopathy with subcortical cysts73Feb 20, 2020
Megalencephalic leukoencephalopathy with subcortical cysts 1115Feb 3, 2026
Megalencephaly-capillary malformation-polymicrogyria syndrome1Jun 29, 2023
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness58Feb 20, 2020
Meier-Gorlin syndrome 155Mar 19, 2024
Meier-Gorlin syndrome 334Feb 20, 2020
Meier-Gorlin syndrome 531Feb 20, 2020
Melanoma, cutaneous malignant, susceptibility to, 335Feb 20, 2020
Melanoma, cutaneous malignant, susceptibility to, 5152Feb 20, 2020
Melanoma, cutaneous malignant, susceptibility to, 81Mar 19, 2024
Melanoma-pancreatic cancer syndrome1Mar 19, 2024
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency44Feb 20, 2020
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency74Feb 20, 2020
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency91Feb 20, 2020
Menkes kinky-hair syndrome1Dec 20, 2021
Metachondromatosis83Feb 20, 2020
Metachromatic leukodystrophy125Apr 22, 2025
Metaphyseal anadysplasia50Feb 20, 2020
Metaphyseal anadysplasia 248Feb 20, 2020
Metaphyseal chondrodysplasia, Jansen type46Feb 20, 2020
Metaphyseal chondrodysplasia, Schmid type77Feb 20, 2020
Metatropic dysplasia104Feb 20, 2020
Methylmalonate semialdehyde dehydrogenase deficiency77Feb 20, 2020
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency20Feb 20, 2020
Methylmalonic acidemia with homocystinuria, type cblX2Apr 22, 2025
Methylmalonic aciduria and homocystinuria type cblD35Feb 20, 2020
Methylmalonic aciduria and homocystinuria type cblF39Feb 20, 2020
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency73Jun 29, 2023
Methylmalonic aciduria, cblA type121Feb 20, 2020
Methylmalonic aciduria, cblB type108Feb 20, 2020
Mevalonic aciduria53Feb 20, 2020
Microcephalic osteodysplastic primordial dwarfism type II379Feb 20, 2020
Microcephaly 1, primary, autosomal recessive113Feb 20, 2020
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations117Mar 19, 2024
Microcephaly 20, primary, autosomal recessive2Sep 19, 2023
Microcephaly 3, primary, autosomal recessive93Feb 20, 2020
Microcephaly 4, primary, autosomal recessive96Feb 20, 2020
Microcephaly 5, primary, autosomal recessive239Feb 20, 2020
Microcephaly 6, primary, autosomal recessive104Feb 20, 2020
Microcephaly 7, primary, autosomal recessive77Feb 20, 2020
Microcephaly 9, primary, autosomal recessive100Feb 20, 2020
Microcephaly and chorioretinopathy 12Nov 6, 2023
Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID)1Dec 14, 2020
Microcephaly, normal intelligence and immunodeficiency92Feb 20, 2020
Microcephaly, seizures, and developmental delay55Feb 20, 2020
Microcephaly, short stature, and limb abnormalities2Jun 29, 2023
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome2Feb 3, 2026
Microcytic anemia94Feb 20, 2020
Microcytic anemia with liver iron overload78Feb 20, 2020
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome5Dec 20, 2021
Microphthalmia with brain and digit anomalies18Feb 20, 2020
Microphthalmia, isolated, with coloboma 377Feb 20, 2020
Microphthalmia, syndromic 974Feb 20, 2020
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis1Mar 19, 2024
Migraine, familial hemiplegic, 2124Dec 16, 2021
Migraine, familial hemiplegic, 399Feb 20, 2020
Miller syndrome73Feb 20, 2020
Mitochondrial DNA depletion syndrome 146Feb 20, 2020
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)24Feb 20, 2020
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)26Feb 20, 2020
Mitochondrial DNA depletion syndrome 8a81Mar 19, 2024
Mitochondrial DNA depletion syndrome 917Feb 20, 2020
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria53Feb 20, 2020
Mitochondrial DNA depletion syndrome, myopathic form88Jul 16, 2020
Mitochondrial complex I deficiency1Feb 1, 2019
Mitochondrial complex I deficiency, nuclear type 1710Feb 20, 2020
Mitochondrial complex I deficiency, nuclear type 311Apr 1, 2020
Mitochondrial complex I deficiency, nuclear type 51Feb 1, 2019
Mitochondrial complex II deficiency, nuclear type 183Feb 20, 2020
Mitochondrial complex III deficiency nuclear type 121Feb 20, 2020
Mitochondrial complex III deficiency nuclear type 270Apr 1, 2020
Mitochondrial complex III deficiency nuclear type 446Feb 20, 2020
Mitochondrial complex IV deficiency, nuclear type 1285Mar 19, 2024
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 134Feb 20, 2020
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 262Feb 20, 2020
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 52Apr 22, 2025
Mitochondrial disease28Feb 3, 2026
Mitochondrial non-syndromic sensorineural hearing loss1Nov 6, 2023
Mitochondrial trifunctional protein deficiency95Feb 20, 2020
Monilethrix74Feb 20, 2020
Mowat-Wilson syndrome2Mar 19, 2024
Mucolipidosis type II109Feb 20, 2020
Mucolipidosis type IV63Jun 29, 2023
Mucopolysaccharidosis type 172Sep 19, 2023
Mucopolysaccharidosis type 6105Apr 22, 2025
Mucopolysaccharidosis type 745Feb 20, 2020
Mucopolysaccharidosis, MPS-II1Nov 6, 2023
Mucopolysaccharidosis, MPS-III-A89Nov 6, 2023
Mucopolysaccharidosis, MPS-III-B45Feb 20, 2020
Mucopolysaccharidosis, MPS-III-C116Feb 20, 2020
Mucopolysaccharidosis, MPS-III-D79Feb 20, 2020
Mucopolysaccharidosis, MPS-IV-A100Feb 20, 2020
Mucopolysaccharidosis, MPS-IV-B50Feb 20, 2020
Mulibrey nanism syndrome80Feb 20, 2020
Mullegama-Klein-Martinez syndrome1Mar 19, 2024
Multicentric carpo-tarsal osteolysis with or without nephropathy62Dec 14, 2020
Multicentric osteolysis nodulosis arthropathy spectrum91Feb 20, 2020
Multiple acyl-CoA dehydrogenase deficiency66Feb 20, 2020
Multiple congenital anomalies-hypotonia-seizures syndrome 25Jun 29, 2023
Multiple congenital exostosis50Feb 20, 2020
Multiple cutaneous and mucosal venous malformations92Feb 20, 2020
Multiple endocrine neoplasia127Feb 20, 2020
Multiple endocrine neoplasia type 466Feb 20, 2020
Multiple endocrine neoplasia, type 147Apr 28, 2025
Multiple epiphyseal dysplasia type 162Dec 14, 2020
Multiple epiphyseal dysplasia type 4143Feb 20, 2020
Multiple epiphyseal dysplasia type 556Sep 19, 2023
Multiple mitochondrial dysfunctions syndrome 128Feb 20, 2020
Multiple mitochondrial dysfunctions syndrome 212Feb 20, 2020
Multiple sulfatase deficiency82Feb 20, 2020
Multiple synostoses syndrome 239Feb 20, 2020
Multiple synostoses syndrome 383Feb 20, 2020
Multisystemic smooth muscle dysfunction syndrome16Feb 20, 2020
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4109Feb 20, 2020
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A699Feb 20, 2020
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121Mar 19, 2024
Muscular dystrophy-dystroglycanopathy type B699Feb 20, 2020
Myasthenic syndrome, congenital, 221Dec 14, 2020
Myhre syndrome172Feb 20, 2020
Myoclonic dystonia 1123Aug 9, 2021
Myofibrillar myopathy 27Feb 20, 2020
Myofibrillar myopathy 336Feb 20, 2020
Myofibrillar myopathy 417Dec 20, 2021
Myofibrillar myopathy 662Feb 20, 2020
Myofibrillar myopathy 81Mar 19, 2024
Myoglobinuria, acute recurrent, autosomal recessive114Jul 16, 2020
Myopathy caused by variation in POMT11Jun 29, 2023
Myopathy, centronuclear, 273Feb 20, 2020
Myopathy, congenital, progressive, with scoliosis2Apr 1, 2020
Myopathy, congenital, with tremor1Feb 3, 2026
Myopathy, lactic acidosis, and sideroblastic anemia 154Feb 20, 2020
Myopathy, lactic acidosis, and sideroblastic anemia 238Feb 20, 2020
Myopathy, myofibrillar, 9, with early respiratory failure1772Jun 29, 2023
Myopathy, proximal, and ophthalmoplegia69Aug 9, 2021
Myopathy, tubular aggregate, 21Nov 15, 2023
Myosclerosis7Feb 20, 2020
Myosin storage myopathy122Feb 20, 2020
Myostatin-related muscle hypertrophy49Feb 20, 2020
NAA15-related disorder1Aug 9, 2021
NAA15-related syndrome1Jul 16, 2020
NAFLD179Feb 20, 2020
NARS2-related primary mitochondrial disorder1Dec 16, 2021
NBEA-related complex neurodevelopmental disorder1Dec 20, 2021
NBEA-related intellectual disability2Dec 14, 2020
NPHP1-related disorder1Feb 1, 2019
NPHP3-related Meckel-like syndrome86Feb 20, 2020
NR2E3-related disorder3Sep 10, 2024
NR2F2-related congenital heart defects1Dec 14, 2020
NSD2-related neurodevelopmental disorder1Jun 1, 2022
Nail-patella syndrome181Feb 20, 2020
Naxos disease106Feb 20, 2020
Nemaline myopathy 2453Apr 22, 2025
Nemaline myopathy 523Feb 20, 2020
Nemaline myopathy 675Feb 20, 2020
Nemaline myopathy 737Feb 20, 2020
Neonatal diabetes mellitus with congenital hypothyroidism228Feb 20, 2020
Neonatal severe primary hyperparathyroidism59Feb 20, 2020
Nephronophthisis 146Feb 20, 2020
Nephronophthisis 1161Feb 20, 2020
Nephronophthisis 12120Feb 20, 2020
Nephronophthisis 386Feb 20, 2020
Nephronophthisis 4160Feb 3, 2026
Nephronophthisis 7101Feb 20, 2020
Nephronophthisis 8125Feb 20, 2020
Nephronophthisis 963Feb 20, 2020
Nephronophthisis-like nephropathy 1143Feb 20, 2020
Nephropathic cystinosis147Feb 20, 2020
Nephrotic syndrome, type 122Mar 19, 2024
Nephrotic syndrome, type 245Dec 14, 2020
Nephrotic syndrome, type 3161Feb 20, 2020
Nephrotic syndrome, type 482Feb 20, 2020
Nestor-Guillermo progeria syndrome26Feb 20, 2020
Netherton syndrome101Dec 14, 2020
Neural tube defect175Feb 20, 2020
Neuroblastoma196Feb 20, 2020
Neuroblastoma, susceptibility to, 256Feb 20, 2020
Neuroblastoma, susceptibility to, 3159Feb 20, 2020
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1Aug 9, 2021
Neurodegeneration with brain iron accumulation 4129Apr 1, 2020
Neurodegeneration with brain iron accumulation 54Apr 22, 2025
Neurodegeneration, infantile-onset, biotin-responsive2Nov 15, 2023
Neurodevelopmental disorder1Apr 7, 2025
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies2Dec 16, 2021
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures2Sep 19, 2023
Neurodevelopmental disorder with hypotonia and gross motor and speech delay1Feb 3, 2026
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language1Apr 22, 2025
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities1Jun 1, 2022
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures2Mar 19, 2024
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language1Jun 29, 2023
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia2Feb 3, 2026
Neurodevelopmental disorder with involuntary movements2Mar 19, 2024
Neurodevelopmental disorder with language impairment and behavioral abnormalities1Jul 16, 2020
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment2Mar 15, 2024
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy2Aug 9, 2021
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Nov 15, 2023
Neurodevelopmental disorder with or without autism or seizures1Mar 15, 2024
Neurodevelopmental disorder with or without early-onset generalized epilepsy1Apr 22, 2025
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant2Apr 22, 2025
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA3Sep 19, 2023
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities63Feb 20, 2020
Neurodevelopmental disorder with seizures and speech and walking impairment2Mar 19, 2024
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities1Feb 3, 2026
Neurodevelopmental disorder with speech impairment and dysmorphic facies2Mar 19, 2024
Neuroferritinopathy19Feb 20, 2020
Neurofibromatosis, familial spinal147Feb 20, 2020
Neurofibromatosis, type 1157Apr 22, 2025
Neurofibromatosis, type 2124Feb 20, 2020
Neurofibromatosis-Noonan syndrome147Feb 20, 2020
Neurogenic scapuloperoneal syndrome, Kaeser type43Feb 20, 2020
Neuromuscular disease caused by qualitative or quantitative defects of dysferlin211Apr 12, 2024
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin7Apr 22, 2025
Neuronal Ceroid-Lipofuscinosis, Recessive1Oct 18, 2016
Neuronal ceroid lipofuscinosis71Feb 20, 2020
Neuronal ceroid lipofuscinosis 161Feb 20, 2020
Neuronal ceroid lipofuscinosis 1072Feb 20, 2020
Neuronal ceroid lipofuscinosis 270Mar 19, 2024
Neuronal ceroid lipofuscinosis 357Feb 20, 2020
Neuronal ceroid lipofuscinosis 553Feb 20, 2020
Neuronal ceroid lipofuscinosis 774Jun 29, 2023
Neuronopathy, distal hereditary motor, autosomal dominant 8104Feb 20, 2020
Neuronopathy, distal hereditary motor, autosomal recessive 4126Feb 20, 2020
Neuronopathy, distal hereditary motor, type 2A34Feb 20, 2020
Neuronopathy, distal hereditary motor, type 2B28Feb 3, 2026
Neuronopathy, distal hereditary motor, type 2C16Feb 20, 2020
Neuronopathy, distal hereditary motor, type 5A104Feb 20, 2020
Neuronopathy, distal hereditary motor, type 7B82Feb 20, 2020
Neuroocular syndrome1Dec 16, 2021
Neuropathy, congenital hypomyelinating, 230Feb 20, 2020
Neuropathy, hereditary motor and sensory, type 6A1Jun 29, 2023
Neuropathy, hereditary sensory and autonomic, type 1A34Feb 20, 2020
Neuropathy, hereditary sensory and autonomic, type 1C158Feb 20, 2020
Neuropathy, hereditary sensory and autonomic, type 2B55Feb 20, 2020
Neutral lipid storage myopathy88Feb 20, 2020
Neutropenia, severe congenital, 2, autosomal dominant1Nov 15, 2023
Newfoundland cone-rod dystrophy48Feb 20, 2020
Nicolaides-Baraitser syndrome123Nov 15, 2023
Niemann-Pick disease, type A64Feb 20, 2020
Niemann-Pick disease, type C1133Sep 19, 2023
Niemann-Pick disease, type C21Feb 1, 2019
Non-acquired combined pituitary hormone deficiency with spine abnormalities69Feb 20, 2020
Noonan syndrome3Jul 16, 2020
Noonan syndrome 188Mar 19, 2024
Noonan syndrome 101Sep 19, 2023
Noonan syndrome 32Feb 20, 2020
Noonan syndrome 4134Jun 1, 2022
Noonan syndrome 565Apr 22, 2025
Noonan syndrome 675Apr 22, 2025
Noonan syndrome 735Dec 14, 2020
Noonan syndrome 94Sep 19, 2023
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia1Dec 14, 2020
Noonan syndrome-like disorder with loose anagen hair 151Feb 20, 2020
Noonan syndrome-like disorder with loose anagen hair 21Feb 3, 2026
Noonan-like syndrome1Dec 14, 2020
Norman-Roberts syndrome217Dec 14, 2020
Nystagmus 1, congenital, X-linked40Feb 20, 2020
O'Donnell-Luria-Rodan syndrome1Mar 19, 2024
OFD1-related ciliopathy2Jun 1, 2022
OPA1-related optic atrophy with or without extraocular features1Sep 19, 2023
OTX2-Related Syndromic Microphthalmia1Jun 1, 2022
Obesity88Feb 20, 2020
Obesity due to SIM1 deficiency68Feb 20, 2020
Obesity due to congenital leptin deficiency42Feb 20, 2020
Obesity due to leptin receptor gene deficiency53Feb 20, 2020
Obesity due to pro-opiomelanocortin deficiency23Feb 20, 2020
Obesity due to prohormone convertase I deficiency55Feb 20, 2020
Occipital pachygyria and polymicrogyria1Mar 19, 2024
Occult macular dystrophy398Feb 20, 2020
Ocular cystinosis147Feb 20, 2020
Oculocerebrofacial syndrome, Kaufman type2Mar 19, 2024
Oculocutaneous albinism36Feb 13, 2025
Oculocutaneous albinism type 11Mar 19, 2024
Oculocutaneous albinism type 1B1Jul 16, 2020
Oculocutaneous albinism type 373Feb 20, 2020
Oculocutaneous albinism type 443Mar 19, 2024
Oculodentodigital dysplasia58Feb 3, 2026
Oculotrichoanal syndrome267Feb 20, 2020
Odonto-onycho-dermal dysplasia55Feb 20, 2020
Oguchi disease46Feb 20, 2020
Okur-Chung neurodevelopmental syndrome1Jun 29, 2023
Oligodontia-cancer predisposition syndrome114Feb 20, 2020
Optic atrophy 3191Feb 20, 2020
Ornithine aminotransferase deficiency48Feb 20, 2020
Ornithine carbamoyltransferase deficiency19Dec 20, 2021
Orofacial cleft 1014Feb 20, 2020
Orofacial cleft 1130Feb 20, 2020
Orofacial cleft 6, susceptibility to72Feb 20, 2020
Orofacial cleft 891Feb 20, 2020
Orofaciodigital syndrome IX2Mar 15, 2024
Oroticaciduria156Feb 20, 2020
Orthostatic hypotension 1127Feb 20, 2020
Osteochondritis dissecans1Aug 9, 2021
Osteogenesis Imperfecta, Recessive50Feb 20, 2020
Osteogenesis imperfecta252Dec 16, 2021
Osteogenesis imperfecta type 1059Feb 20, 2020
Osteogenesis imperfecta type 1170Mar 19, 2024
Osteogenesis imperfecta type 1378Feb 20, 2020
Osteogenesis imperfecta type 51Nov 6, 2023
Osteogenesis imperfecta type 640Feb 20, 2020
Osteogenesis imperfecta type 7174Feb 20, 2020
Osteogenesis imperfecta type 836Feb 20, 2020
Osteogenesis imperfecta type 934Feb 20, 2020
Osteogenesis imperfecta type I1Apr 22, 2025
Osteoglophonic dysplasia137Feb 20, 2020
Osteopathia striata with cranial sclerosis1Mar 19, 2024
Osteopetrosis144Feb 20, 2020
Osteopetrosis with renal tubular acidosis24Feb 20, 2020
Oto-palato-digital syndrome, type II1Nov 15, 2023
Otofaciocervical syndrome 196Feb 20, 2020
Otospondylomegaepiphyseal dysplasia, autosomal dominant49Feb 20, 2020
Otospondylomegaepiphyseal dysplasia, autosomal recessive141Feb 20, 2020
Ovarian dysgenesis 150Feb 20, 2020
Ovarian dysgenesis 217Feb 20, 2020
Ovarian hyperstimulation syndrome50Feb 20, 2020
Oxoglutaricaciduria1Nov 15, 2023
P5CS deficiency1Nov 6, 2023
PACS1-related syndrome1Apr 1, 2020
PAK1-related neurodevelopmental disorders1Jul 16, 2020
PALB2-related disorder6Mar 19, 2024
PAX2-Related Disorder1Nov 6, 2023
PBX1-related intellectual disability and pleiotropic developmental defects1Dec 14, 2020
PCWH syndrome37Feb 20, 2020
PDE6B-related disorder1Feb 1, 2019
PDE6H-related disorder1Feb 1, 2019
PDS5B-related developmental disorder1Nov 15, 2023
PERCHING syndrome2Mar 19, 2024
PEX7-related disorder3Feb 1, 2019
PGM1-congenital disorder of glycosylation35Feb 20, 2020
PHARC syndrome43Feb 20, 2020
PHGDH deficiency43Feb 20, 2020
PIK3CA related overgrowth syndrome2Mar 19, 2024
PITX2-Related Eye Abnormalities61Feb 20, 2020
PLA2G6-associated neurodegeneration76Feb 27, 2026
PLEC-related epidermolysis bullosa2Dec 14, 2020
PLK4-related microcephaly and growth failure with or without ocular features2Dec 14, 2020
PMM2-congenital disorder of glycosylation100Mar 19, 2024
PMPCB-related mitochondrial disorder1Jul 16, 2020
PNPLA6-related disorder1Feb 1, 2019
POLD1-related disorder1Jul 16, 2020
POLG-related disorder114Mar 19, 2024
POLG2-related spectrum disorders1Jul 16, 2020
POLR-related leukodystrophy6Nov 15, 2023
POLR3A-related neurological disorders5Dec 16, 2021
POMGNT1-related disorder3Feb 1, 2019
POMT1-related disorder1Feb 1, 2019
PPARG-related familial partial lipodystrophy20Feb 20, 2020
PPP2R1A-related neurodevelopmental disorders1Jul 16, 2020
PROM1-related disorder1Feb 1, 2019
PRPH2-related disorder1Feb 1, 2019
PRRT2-Associated Paroxysmal Movement Disorders2Sep 19, 2023
PSAT deficiency40Feb 20, 2020
PTCH1-related disorder1Dec 14, 2020
PTCHD1-related autism and intellectual disability1Dec 14, 2020
PTCHD1-related neurodevelopmental disorder1Sep 19, 2023
PTEN hamartoma tumor syndrome86Jun 29, 2023
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Jun 29, 2023
Paget disease of bone 2, early-onset83Feb 20, 2020
Paget disease of bone 385Feb 20, 2020
Pallister-Hall syndrome114Feb 20, 2020
Palmoplantar keratoderma, epidermolytic71Feb 20, 2020
Palmoplantar keratoderma-esophageal carcinoma syndrome111Feb 20, 2020
Pancreatic cancer, susceptibility to, 1109Feb 20, 2020
Papillary renal cell carcinoma type 1136Feb 20, 2020
Papillon-Lefèvre syndrome44Feb 20, 2020
Paramyotonia congenita of Von Eulenburg198Feb 20, 2020
Parathyroid carcinoma97Feb 20, 2020
Parietal foramina 158Feb 20, 2020
Parietal foramina 2157Feb 20, 2020
Parkinson Disease, Dominant71Feb 20, 2020
Parkinson Disease, Dominant/Recessive70Feb 20, 2020
Parkinson disease 13, autosomal dominant, susceptibility to47Feb 20, 2020
Parkinson disease 1738Feb 20, 2020
Parkinson disease 5, autosomal dominant, susceptibility to32Feb 20, 2020
Parkinson disease, late-onset41Feb 20, 2020
Parkinsonian-pyramidal syndrome40Feb 20, 2020
Paroxysmal extreme pain disorder189Feb 20, 2020
Paroxysmal nonkinesigenic dyskinesia 163Feb 20, 2020
Patterned macular dystrophy 176Feb 20, 2020
Pelizaeus-Merzbacher disease1Mar 19, 2024
Pendred syndrome115Feb 20, 2020
Periodic fever-infantile enterocolitis-autoinflammatory syndrome1Dec 14, 2020
Periventricular heterotopia with microcephaly, autosomal recessive138Feb 20, 2020
Periventricular nodular heterotopia 91Dec 14, 2020
Perlman syndrome93Feb 20, 2020
Permanent neonatal diabetes mellitus168Feb 20, 2020
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome28Feb 20, 2020
Peroxisome biogenesis disorder1Jun 29, 2023
Peroxisome biogenesis disorder 10A (Zellweger)46Feb 20, 2020
Peroxisome biogenesis disorder 11A (Zellweger)92Feb 20, 2020
Peroxisome biogenesis disorder 12A (Zellweger)69Feb 20, 2020
Peroxisome biogenesis disorder 13A (Zellweger)51Feb 20, 2020
Peroxisome biogenesis disorder 1A (Zellweger)89Feb 20, 2020
Peroxisome biogenesis disorder 2A (Zellweger)100Feb 20, 2020
Peroxisome biogenesis disorder 3A (Zellweger)47Feb 20, 2020
Peroxisome biogenesis disorder 4A (Zellweger)66Feb 20, 2020
Peroxisome biogenesis disorder 5A (Zellweger)93Feb 20, 2020
Peroxisome biogenesis disorder 6A (Zellweger)76Feb 20, 2020
Peroxisome biogenesis disorder 7A (Zellweger)122Feb 20, 2020
Peroxisome biogenesis disorder 8A (Zellweger)44Feb 20, 2020
Peroxisome biogenesis disorder 9B37Feb 20, 2020
Perrault syndrome 161Dec 20, 2021
Perry syndrome82Feb 20, 2020
Peters plus syndrome96Feb 20, 2020
Peutz-Jeghers syndrome103Feb 20, 2020
Phelan-McDermid syndrome4Mar 19, 2024
Phenylketonuria56Apr 22, 2025
Pheochromocytoma269Feb 20, 2020
Pheochromocytoma/paraganglioma syndrome 52Dec 14, 2022
Phosphoenolpyruvate carboxykinase deficiency, cytosolic74Feb 20, 2020
Phosphoribosylpyrophosphate synthetase superactivity23Feb 20, 2020
Phytanic acid storage disease41Feb 20, 2020
Piebaldism118Feb 20, 2020
Pierson syndrome116Feb 20, 2020
Pigmentary pallidal degeneration41Feb 20, 2020
Pigmentary retinal dystrophy151Feb 20, 2020
Pigmented paravenous retinochoroidal atrophy67Feb 20, 2020
Pitt-Hopkins syndrome138Apr 22, 2025
Pitt-Hopkins-like syndrome 2176Feb 20, 2020
Pituitary hormone deficiency, combined, 120Dec 20, 2021
Pituitary hormone deficiency, combined, 233Feb 20, 2020
Pituitary hormone deficiency, combined, 630Feb 20, 2020
Platelet-type bleeding disorder 1081Feb 20, 2020
Platelet-type bleeding disorder 9160Feb 20, 2020
Poirier-Bienvenu neurodevelopmental syndrome1Jun 11, 2024
Polycystic kidney disease 2105Aug 9, 2021
Polycystic kidney disease 3 with or without polycystic liver disease1Apr 22, 2025
Polycystic kidney disease, adult type3Apr 22, 2025
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 119Feb 20, 2020
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 220Feb 20, 2020
Polycystic liver disease 168Feb 20, 2020
Polycystic liver disease 2133Feb 3, 2026
Polydactyly189Feb 20, 2020
Polydactyly of a triphalangeal thumb111Feb 20, 2020
Pontocerebellar hypoplasia type 1A22Feb 20, 2020
Pontocerebellar hypoplasia type 1B41Mar 19, 2024
Pontocerebellar hypoplasia type 2D72Feb 20, 2020
Pontocerebellar hypoplasia type 635Feb 20, 2020
Pontoneocerebellar hypoplasia195Mar 19, 2024
Porphobilinogen synthase deficiency75Feb 20, 2020
Posterior column ataxia-retinitis pigmentosa syndrome187Apr 1, 2020
Posterior polymorphous corneal dystrophy59Feb 20, 2020
Potassium-aggravated myotonia198Feb 20, 2020
Predisposition to invasive fungal disease due to CARD9 deficiency65Feb 20, 2020
Premature ovarian failure 2B45Nov 22, 2024
Premature ovarian failure 555Feb 20, 2020
Premature ovarian failure 621Feb 20, 2020
Primary ciliary dyskinesia1Oct 18, 2016
Primary ciliary dyskinesia 1066Feb 20, 2020
Primary ciliary dyskinesia 1153Feb 20, 2020
Primary ciliary dyskinesia 1220Feb 20, 2020
Primary ciliary dyskinesia 1386Feb 20, 2020
Primary ciliary dyskinesia 1499Feb 20, 2020
Primary ciliary dyskinesia 15141May 23, 2024
Primary ciliary dyskinesia 1734Feb 20, 2020
Primary ciliary dyskinesia 1931Feb 20, 2020
Primary ciliary dyskinesia 3414Feb 20, 2020
Primary ciliary dyskinesia 51Apr 22, 2025
Primary ciliary dyskinesia 784Mar 19, 2024
Primary ciliary dyskinesia 976Feb 20, 2020
Primary coenzyme Q10 deficiency 82Sep 19, 2023
Primary dilated cardiomyopathy71Apr 22, 2025
Primary erythromelalgia186Feb 20, 2020
Primary familial polycythemia due to EPO receptor mutation52Feb 20, 2020
Primary hyperoxaluria type 373Feb 20, 2020
Primary hyperoxaluria, type I59Feb 20, 2020
Primary hyperoxaluria, type II38Feb 20, 2020
Primary hypomagnesemia73Feb 20, 2020
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency98Feb 20, 2020
Primary open angle glaucoma61Feb 20, 2020
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome2Mar 19, 2024
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 269Feb 20, 2020
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 369Feb 20, 2020
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 420Feb 20, 2020
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 580Feb 20, 2020
Progressive familial heart block type IB106Feb 20, 2020
Progressive familial heart block, type 1A180Feb 20, 2020
Progressive familial intrahepatic cholestasis1Oct 18, 2016
Progressive familial intrahepatic cholestasis type 1140Feb 20, 2020
Progressive familial intrahepatic cholestasis type 2107Mar 19, 2024
Progressive familial intrahepatic cholestasis type 360Feb 20, 2020
Progressive myoclonic epilepsy146Feb 20, 2020
Progressive myoclonic epilepsy type 3100Jun 1, 2022
Progressive myoclonic epilepsy type 64Feb 20, 2020
Progressive myositis ossificans48Jul 16, 2020
Progressive pseudorheumatoid dysplasia19Feb 20, 2020
Prolidase deficiency71Feb 20, 2020
Propionic acidemia100Feb 20, 2020
Prostate cancer, hereditary, 91Dec 14, 2020
Proteasome-associated autoinflammatory syndrome 125Feb 20, 2020
Protoporphyria, erythropoietic, 18Feb 20, 2020
Pseudo-Hurler polydystrophy108Feb 20, 2020
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome61Feb 20, 2020
Pseudohypoaldosteronism type 2B96Feb 20, 2020
Pseudohypoaldosteronism type 2C197Feb 20, 2020
Pseudohypoaldosteronism type 2D114Feb 20, 2020
Pseudohypoaldosteronism type 2E110Feb 20, 2020
Pseudohypoaldosteronism, type IB1, autosomal recessive201Feb 20, 2020
Pseudohypoparathyroidism type 1B119Apr 1, 2020
Psychomotor retardation, epilepsy, and craniofacial dysmorphism1Mar 15, 2024
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency10Feb 20, 2020
Pulmonary arteriovenous malformation1Mar 19, 2024
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 170Feb 20, 2020
Pulmonary hypertension, primary, 1178Feb 20, 2020
Purine-nucleoside phosphorylase deficiency52Feb 20, 2020
Pyknodysostosis13Feb 20, 2020
Pyle metaphyseal dysplasia2Apr 22, 2025
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome64Feb 20, 2020
Pyridoxal phosphate-responsive seizures55Feb 20, 2020
Pyridoxine-dependent epilepsy123Dec 14, 2020
Pyropoikilocytosis, hereditary243Feb 20, 2020
Pyruvate carboxylase deficiency83Feb 20, 2020
Pyruvate dehydrogenase E1-alpha deficiency55Dec 13, 2022
Pyruvate dehydrogenase E1-beta deficiency33Feb 20, 2020
Pyruvate dehydrogenase E3 deficiency70Feb 20, 2020
Pyruvate dehydrogenase E3-binding protein deficiency81Feb 20, 2020
Pyruvate dehydrogenase complex deficiency70Feb 20, 2020
Pyruvate kinase deficiency of red cells64Feb 20, 2020
Qualitative or quantitative defects of beta-sarcoglycan85Feb 20, 2020
Qualitative or quantitative defects of delta-sarcoglycan197Feb 20, 2020
Quebec platelet disorder63Feb 20, 2020
RAB23-related Carpenter syndrome55Feb 20, 2020
RAD51C-related disorder1Apr 5, 2019
RAG1-related disorder3Feb 1, 2019
RDH12-related disorder1Feb 1, 2019
RECQL4-related spectrum disorders2Aug 9, 2021
RFT1-congenital disorder of glycosylation119Feb 20, 2020
RLBP1-related disorder3Feb 1, 2019
RLIM-related syndromic intellectual disability1Aug 9, 2021
RNU4ATAC-related spliceosomopathies2Apr 1, 2020
RP1-related retinal dystrophy2Apr 1, 2020
RPE65-related disorder2Feb 1, 2019
RYR1-related disorder8Nov 15, 2023
Rabson-Mendenhall syndrome201Feb 20, 2020
Radial aplasia-thrombocytopenia syndrome1Mar 15, 2024
Radio-Tartaglia syndrome1Mar 19, 2024
Rafiq syndrome109Feb 20, 2020
Rahman syndrome1Mar 19, 2024
Renal carnitine transport defect82Dec 14, 2020
Renal cysts and diabetes syndrome53Feb 20, 2020
Renal hypodysplasia/aplasia 1165Feb 20, 2020
Renal hypodysplasia/aplasia 31Dec 14, 2020
Renal hypomagnesemia 219Feb 20, 2020
Renal hypomagnesemia 4119Feb 20, 2020
Renal hypomagnesemia 5 with ocular involvement64Feb 20, 2020
Renal hypomagnesemia 657Feb 20, 2020
Renal tubular acidosis with progressive nerve deafness47Feb 20, 2020
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss1Apr 25, 2024
Renal tubular dysgenesis305Feb 20, 2020
Renal-hepatic-pancreatic dysplasia 186Feb 20, 2020
Renpenning syndrome11Jun 1, 2022
Retinal cone dystrophy 4159Feb 20, 2020
Retinal macular dystrophy type 2108Feb 20, 2020
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations17Feb 20, 2020
Retinitis Pigmentosa, Recessive6Feb 20, 2020
Retinitis pigmentosa3791Feb 20, 2020
Retinitis pigmentosa 11Feb 3, 2026
Retinitis pigmentosa 251Dec 16, 2021
Retinitis pigmentosa 3712Feb 20, 2020
Retinitis pigmentosa 431Nov 22, 2024
Retinitis pigmentosa 581Feb 20, 2020
Retinoblastoma77Feb 20, 2020
Rett syndrome7Apr 7, 2025
Revesz syndrome36Feb 20, 2020
Rhabdoid tumor predisposition syndrome 132Feb 20, 2020
Rhabdoid tumor predisposition syndrome 21Apr 1, 2020
Rhizomelic chondrodysplasia punctata type 137Feb 20, 2020
Rhizomelic chondrodysplasia punctata type 261Feb 20, 2020
Rhizomelic chondrodysplasia punctata type 3126Feb 20, 2020
Rienhoff syndrome1Feb 3, 2026
Ring dermoid of cornea61Feb 20, 2020
Roberts-SC phocomelia syndrome57Feb 20, 2020
Rotor syndrome164Feb 20, 2020
Roussy-Lévy syndrome30Feb 20, 2020
Rubinstein-Taybi syndrome1Jul 16, 2020
Rubinstein-Taybi syndrome due to CREBBP mutations6Jun 1, 2022
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency3Mar 19, 2024
SAG-related disorder1Feb 1, 2019
SATB2 associated disorder2Mar 19, 2024
SATB2-Associated Syndrome1Nov 15, 2023
SCAMP5-related neurodevelopmental disorder with autistic features and seizures1Nov 6, 2023
SCN1A Seizure Disorders3Nov 6, 2023
SCN1A-related disorder1Feb 20, 2020
SCN2A-related generalized epilepsy with febrile seizures plus2Apr 22, 2025
SCN3A-Related Neurodevelopmental Disorder2Dec 20, 2021
SCN3A-related neurodevelopmental sisorder2Jul 16, 2020
SCN4A-related channelopathies1Feb 3, 2026
SCN4A-related myopathy, autosomal recessive1Dec 16, 2021
SCN5A-related disorder6Feb 3, 2026
SCN8A-related complex neurodevelopmental disorder2Aug 9, 2021
SCN9A-related disorder1Jul 16, 2020
SCN9A-related peripheral neuropathies associated with increased pain1Dec 14, 2020
SDHB-related disorder1Oct 18, 2016
SEPN1-related disorder100Feb 20, 2020
SETD5-related syndromic intellectual disability1Aug 9, 2021
SH3TC2-related disorder1Feb 1, 2019
SHANK1-related Neurodevelopmental Disorder1Apr 22, 2025
SIN3A-related intellectual disability syndrome due to a point mutation1Dec 16, 2021
SLC25A38-related disorder1Feb 1, 2019
SLC26A2-related disorder3Feb 1, 2019
SLC26A4-related disorder11Feb 1, 2019
SLC33A1-related hereditary spastic paraplegia1Dec 20, 2021
SLC34A1-related disorder1Feb 1, 2019
SLC5A6-related disorder2Dec 14, 2020
SLC6A1-related neurodevelopmental disorder1Nov 15, 2023
SMAD2-related disorder1Dec 14, 2020
SMARCB1-related schwannomatosis32Feb 20, 2020
SMARCC2-related neurodevelopmental disorder2Dec 16, 2021
SMC1A-related cohesinopathy2Aug 9, 2021
SOX4-related neurodevelopmental disorder1Apr 1, 2020
SPAST-related spastic paraplegia2Jun 1, 2022
SPATA7-related disorder3Feb 1, 2019
SPECC1L-related syndrome2Jun 1, 2022
SPG11-related spastic paraplegia2Apr 1, 2020
SPTBN4-related neurodevelopmental disorder2Apr 1, 2020
SRD5A3-congenital disorder of glycosylation76Feb 20, 2020
STAT5B-related growth hormone insensitivity syndrome1Apr 1, 2020
STXBP1-related neurodevelopmental disorder2Dec 16, 2021
SUFU-related disorder1Dec 14, 2020
SYNE1-related disorder2Feb 3, 2026
SYT1-associated neurodevelopmental disorder1Dec 14, 2020
Sacral defect with anterior meningocele177Feb 20, 2020
Saethre-Chotzen syndrome94Jun 29, 2023
Saldino-Mainzer syndrome175Feb 20, 2020
Salla disease38Feb 20, 2020
Sandhoff disease31Feb 3, 2026
Sanfilippo syndrome1Oct 18, 2016
Sarcoglycanopathy81Feb 20, 2020
Sarcotubular myopathy65Feb 20, 2020
Scapuloperoneal spinal muscular atrophy104Feb 20, 2020
Schaaf-Yang syndrome3Feb 3, 2026
Schimke immuno-osseous dysplasia55Feb 20, 2020
Schinzel-Giedion syndrome2Jun 29, 2023
Schnyder crystalline corneal dystrophy79Feb 20, 2020
Schwartz-Jampel syndrome458Feb 20, 2020
Schöpf-Schulz-Passarge syndrome55Feb 20, 2020
Sclerosteosis 137Feb 20, 2020
Seckel syndrome 1118Dec 14, 2020
Seckel syndrome 4104Feb 20, 2020
Seckel syndrome 5100Feb 20, 2020
Seizures, benign familial infantile, 3118Feb 20, 2020
Seizures, benign familial neonatal, 2238Dec 16, 2021
Seizures, early-onset, with neurodegeneration and brain calcifications1Dec 20, 2021
Sengers syndrome60Feb 20, 2020
Senior-Loken syndrome 146Feb 20, 2020
Senior-Loken syndrome 4159Feb 20, 2020
Senior-Loken syndrome 546Feb 20, 2020
Senior-Loken syndrome 6130Feb 20, 2020
Senior-Loken syndrome 746Feb 20, 2020
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis68Feb 20, 2020
Septo-optic dysplasia sequence8Feb 20, 2020
Severe X-linked mitochondrial encephalomyopathy27Feb 20, 2020
Severe combined immunodeficiency due to DCLRE1C deficiency78Feb 20, 2020
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency38Feb 20, 2020
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive146Feb 20, 2020
Severe early-childhood-onset retinal dystrophy103Feb 20, 2020
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome3Mar 19, 2024
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1Mar 19, 2024
Severe intellectual disability-progressive spastic diplegia syndrome2Mar 19, 2024
Shashi-Pena syndrome4Mar 19, 2024
Short QT syndrome type 298Feb 20, 2020
Short QT syndrome type 3100Feb 20, 2020
Short stature due to growth hormone secretagogue receptor deficiency64Feb 20, 2020
Short stature due to primary acid-labile subunit deficiency70Feb 20, 2020
Short stature-optic atrophy-Pelger-Huët anomaly syndrome4Feb 3, 2026
Short stature-pituitary and cerebellar defects-small sella turcica syndrome46Feb 20, 2020
Short-rib thoracic dysplasia 6 with or without polydactyly107Feb 20, 2020
Short-rib thoracic dysplasia 7 with or without polydactyly158Feb 20, 2020
Shwachman-Diamond syndrome 13Dec 20, 2021
Sialic acid storage disease, severe infantile type55Feb 20, 2020
Sialidosis type 233Feb 20, 2020
Sialuria83Feb 20, 2020
Sick sinus syndrome 1181Feb 20, 2020
Sick sinus syndrome 2, autosomal dominant82Feb 20, 2020
Sideroblastic anemia 254Apr 12, 2024
Silver-Russell syndrome 31Dec 20, 2021
Simpson-Golabi-Behmel syndrome type 11Jun 1, 2022
Sitosterolemia4Feb 1, 2019
Sitosterolemia 1160Feb 20, 2020
Sjögren-Larsson syndrome71Feb 20, 2020
Skraban-Deardorff syndrome1Mar 19, 2024
Smith-Lemli-Opitz syndrome97Jun 29, 2023
Smith-McCort dysplasia 15Feb 20, 2020
Smith-McCort dysplasia 264Feb 20, 2020
Snijders Blok-Campeau syndrome2Jun 1, 2022
Somatotroph adenoma37Mar 19, 2024
Sorsby fundus dystrophy105Feb 20, 2020
Sotos syndrome2Apr 22, 2025
Spastic Paraplegia, Recessive1Oct 18, 2016
Spastic paraplegia, intellectual disability, nystagmus, and obesity1Apr 22, 2025
Spermatogenic failure 414Feb 20, 2020
Spermatogenic failure 647Feb 20, 2020
Spermatogenic failure 767Feb 20, 2020
Spherocytosis202Feb 20, 2020
Sphingolipid activator protein 1 deficiency68Feb 20, 2020
Spinal muscular atrophy1Jul 16, 2020
Spinal muscular atrophy with congenital bone fractures 22Mar 15, 2024
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant1Nov 15, 2023
Spinocerebellar ataxia 472Dec 20, 2021
Spinocerebellar ataxia type 1179Feb 20, 2020
Spinocerebellar ataxia type 1450Feb 20, 2020
Spinocerebellar ataxia type 2362Feb 20, 2020
Spinocerebellar ataxia type 261Feb 3, 2026
Spinocerebellar ataxia type 2746Feb 20, 2020
Spinocerebellar ataxia type 2850Dec 20, 2021
Spinocerebellar ataxia type 3579Feb 20, 2020
Spinocerebellar ataxia type 521Feb 3, 2026
Spinocerebellar ataxia, autosomal recessive 332Feb 3, 2026
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 183Feb 20, 2020
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2192Apr 1, 2020
Split hand-foot malformation 340Feb 20, 2020
Split hand-foot malformation 41Dec 14, 2020
Spondylocostal dysostosis 1, autosomal recessive64Feb 20, 2020
Spondylocostal dysostosis 2, autosomal recessive40Feb 20, 2020
Spondyloepimetaphyseal dysplasia, Missouri type50Feb 20, 2020
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome48Feb 20, 2020
Spondyloepiphyseal dysplasia tarda53Feb 20, 2020
Spondyloepiphyseal dysplasia with congenital joint dislocations62Feb 20, 2020
Spondyloepiphyseal dysplasia, kondo-fu type1Mar 19, 2024
Spondylometaphyseal dysplasia, Kozlowski type104Feb 20, 2020
Spongy degeneration of central nervous system5Feb 1, 2019
Stargardt disease 362Feb 20, 2020
Stargardt disease 4108Feb 20, 2020
Sterile multifocal osteomyelitis with periostitis and pustulosis44Feb 20, 2020
Stickler syndrome type 1122Mar 15, 2024
Stickler syndrome type 2160Apr 12, 2024
Stiff skin syndrome194Feb 20, 2020
Stuve-Wiedemann syndrome197Feb 20, 2020
Succinate-semialdehyde dehydrogenase deficiency133Apr 22, 2025
Succinyl-CoA acetoacetate transferase deficiency58Mar 19, 2024
Sucrase-isomaltase deficiency138Feb 20, 2020
Sulfate transporter-related osteochondrodysplasia143Feb 20, 2020
Sulfite oxidase deficiency49Dec 14, 2020
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A123Dec 13, 2022
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B155Feb 20, 2020
Supravalvar aortic stenosis84Sep 19, 2023
Surfactant metabolism dysfunction, pulmonary, 166Feb 20, 2020
Surfactant metabolism dysfunction, pulmonary, 240Feb 20, 2020
Susceptibility to mononeuropathy of the median nerve, mild532Feb 20, 2020
Symmetrical dyschromatosis of extremities119Feb 20, 2020
Syndactyly64Feb 20, 2020
Syndactyly type 355Feb 20, 2020
Syndromic X-linked intellectual disability Claes-Jensen type1Apr 1, 2020
Syndromic X-linked intellectual disability Siderius type1Nov 15, 2023
Syndromic intellectual disability1Dec 20, 2021
Syndromic microphthalmia type 521Mar 19, 2024
T-B+ severe combined immunodeficiency due to JAK3 deficiency135Feb 20, 2020
T-cell immunodeficiency, congenital alopecia, and nail dystrophy67Feb 20, 2020
TAB2-related disorder1Aug 9, 2021
TAB2-related syndrome1Dec 13, 2022
TAF1-related X-linked syndromic intellectual disability1Dec 13, 2022
TAF1-related syndromic intellectual disability2Dec 14, 2020
TANC2-related neurodevelopmental disorders1Jul 16, 2020
TAOK1-related neurodevelopmental disorder1Jul 16, 2020
TBL1XR1-related neurodevelopmental disorder1Nov 6, 2023
TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome1Jul 16, 2020
TCF20-related neurodevelopmental disorder1Dec 13, 2022
TCTN2-related disorder1Feb 1, 2019
TGFB3-related connective tissue disorders1Dec 14, 2020
TLK2-related neurodevelopmental disorder1Apr 1, 2020
TMEM165-congenital disorder of glycosylation16Feb 20, 2020
TMEM216-related disorder2Feb 1, 2019
TMEM67-related disorder4Feb 1, 2019
TNF receptor-associated periodic fever syndrome (TRAPS)47Mar 19, 2024
TNRC6B-related complex neurodevelopmental disorder1Dec 20, 2021
TP63-Related Spectrum Disorders92Feb 20, 2020
TPM2-related myopathy1Nov 6, 2023
TRAF7-related syndrome1Dec 13, 2022
TRAPPC6B-related neurodevelopmental disorder1Dec 14, 2020
TREX1-related disorder1Feb 1, 2019
TRPV4-associated skeletal dysplasias1Dec 14, 2020
TRPV4-related bone disorder1Dec 16, 2021
TRPV4-related disorder1Dec 20, 2021
TRRAP-related neurodevelopmental disorder3Dec 20, 2021
TTN-related disorder6Mar 19, 2024
TTN-related myopathy5Feb 3, 2026
TUBB-related tubulinopathy1Dec 14, 2020
TUBB2A-related tubulinopathy1Aug 9, 2021
TUBB2B-related tubulinopathy1Dec 20, 2021
TUBB3-related tubulinopathy2Dec 14, 2020
TUBB4A-related hypomyelinating leukodystrophy and/or torsion dystonia1Dec 20, 2021
Tangier disease235Feb 20, 2020
Tatton-Brown-Rahman overgrowth syndrome2Jun 29, 2023
Tay-Sachs disease9Dec 14, 2020
Tay-Sachs disease, variant AB86Feb 20, 2020
Telangiectasia, hereditary hemorrhagic, type 187Mar 19, 2024
Telangiectasia, hereditary hemorrhagic, type 287Feb 20, 2020
Testosterone 17-beta-dehydrogenase deficiency27Feb 13, 2025
Tetralogy of Fallot1Mar 15, 2024
Thrombocythemia 131Feb 20, 2020
Thrombocytopenia62Feb 20, 2020
Thrombocytopenia 2126Feb 20, 2020
Thrombophilia due to activated protein C resistance49Feb 20, 2020
Thrombophilia due to protein C deficiency, autosomal dominant49Apr 22, 2025
Thrombophilia due to protein S deficiency, autosomal dominant74Feb 20, 2020
Thrombophilia due to thrombin defect229Feb 20, 2020
Thyroid dyshormonogenesis 188Feb 20, 2020
Thyroid dyshormonogenesis 6202Feb 20, 2020
Thyroid hormone metabolism, abnormal 11Sep 19, 2023
Thyroid hormone resistance, generalized, autosomal dominant151Feb 20, 2020
Tibial muscular dystrophy1771Feb 20, 2020
Tietz syndrome100Feb 20, 2020
Timothy syndrome1Aug 9, 2021
Tolchin-Le Caignec syndrome3Mar 19, 2024
Tooth agenesis, selective, 353Feb 20, 2020
Tooth agenesis, selective, 454Feb 20, 2020
Tooth agenesis, selective, 71Dec 16, 2021
Torsion dystonia 439Feb 20, 2020
Torsion dystonia 643Feb 20, 2020
Tourette syndrome82Feb 20, 2020
Townes-Brocks syndrome 11Mar 19, 2024
Transcobalamin II deficiency77Feb 20, 2020
Transient Neonatal Diabetes, Dominant/Recessive11Feb 20, 2020
Transient Neonatal Diabetes, Recessive58Feb 20, 2020
Treacher Collins syndrome 329Feb 20, 2020
Tremor, hereditary essential, 113Feb 20, 2020
Trichohepatoenteric syndrome 278Feb 20, 2020
Trichorhinophalangeal syndrome1Dec 16, 2021
Trichothiodystrophy 5, nonphotosensitive1Dec 13, 2022
Trichothiodystrophy 9, nonphotosensitive2Feb 3, 2026
Triglyceride storage disease with ichthyosis104Feb 20, 2020
Trigonocephaly 1137Feb 20, 2020
Trimethylaminuria51Feb 20, 2020
Triosephosphate isomerase deficiency37Feb 20, 2020
Troyer syndrome77Feb 20, 2020
Tryptophan 5-monooxygenase deficiency38Feb 20, 2020
Tuberous sclerosis 1202Mar 19, 2024
Tuberous sclerosis 23Nov 6, 2023
Tuberous sclerosis syndrome216Feb 20, 2020
Tubulinopathy3Mar 19, 2024
Tumoral calcinosis, hyperphosphatemic, familial, 148Feb 20, 2020
Tumoral calcinosis, hyperphosphatemic, familial, 255Feb 20, 2020
Tumoral calcinosis, hyperphosphatemic, familial, 3116Feb 20, 2020
Type 2 collagenopathy125Apr 22, 2025
Tyrosinase-positive oculocutaneous albinism96Jul 16, 2020
Tyrosinemia type I71Apr 12, 2024
Tyrosinemia type II49Feb 20, 2020
Tyrosinemia type III29Feb 20, 2020
UDPglucose-4-epimerase deficiency36Feb 20, 2020
USH2A-related disorder4Feb 1, 2019
USP7-related neurodevelopmental disorder2Jul 16, 2020
USP9X-related neurodevelopmental disorder3Dec 16, 2021
Ulnar-mammary syndrome100Feb 20, 2020
Unverricht-Lundborg syndrome27Feb 20, 2020
Upshaw-Schulman syndrome98Feb 20, 2020
Usher syndrome type 1395Feb 20, 2020
Usher syndrome type 1C81Feb 20, 2020
Usher syndrome type 1D367Feb 20, 2020
Usher syndrome type 1G66Feb 20, 2020
Usher syndrome type 2A134Mar 19, 2024
Usher syndrome type 2C406Apr 22, 2025
Usher syndrome type 2D126Feb 20, 2020
Usher syndrome type 348Feb 20, 2020
Usher syndrome type 3A1Jun 29, 2023
VACTERL association, X-linked, with or without hydrocephalus68Apr 22, 2025
VCP-related multisystem proteinopathy1Apr 1, 2020
VPS13A-related neurodegenerative disease207Feb 20, 2020
Van der Woude syndrome 173Feb 20, 2020
Vanishing white matter disease197Nov 6, 2023
Variegate porphyria30Feb 20, 2020
Ventricular fibrillation, paroxysmal familial, type 1180Feb 20, 2020
Ververi-Brady syndrome1Dec 14, 2020
Very long chain acyl-CoA dehydrogenase deficiency63Apr 8, 2025
Vesicoureteral reflux 2153Feb 20, 2020
Visceral myopathy 11Mar 19, 2024
Vitamin D-dependent rickets type II with alopecia122Feb 20, 2020
Vitamin D-dependent rickets, type 136Feb 20, 2020
Vitamin K-dependent clotting factors, combined deficiency of, type 1181Feb 20, 2020
Vitamin K-dependent clotting factors, combined deficiency of, type 222Feb 20, 2020
Vitelliform macular dystrophy 231Feb 20, 2020
Vitreoretinopathy218Feb 20, 2020
Von Hippel-Lindau syndrome137Feb 20, 2020
WAC-related neurodevelopmental disorder1Dec 14, 2020
WDR35-related disorder1Feb 1, 2019
WFS1-Related Spectrum Disorders205Feb 20, 2020
WNT10A-related disorder1Feb 1, 2019
Waardenburg syndrome77Feb 20, 2020
Waardenburg syndrome type 2A100Feb 20, 2020
Wagner disease75Feb 20, 2020
Warburg micro syndrome 174Feb 20, 2020
Warburg micro syndrome 2116Feb 20, 2020
Warburg micro syndrome 3105Feb 20, 2020
Warburg-cinotti syndrome1Mar 19, 2024
Weaver syndrome2Mar 19, 2024
Weill-Marchesani 4 syndrome, recessive325Mar 19, 2024
Weill-Marchesani syndrome503Feb 20, 2020
Weiss-Kruszka syndrome1Mar 19, 2024
Werner syndrome124Aug 9, 2021
White sponge nevus 177Feb 20, 2020
White sponge nevus 255Feb 20, 2020
Wiedemann-Steiner syndrome11Feb 3, 2026
Wilms tumor 182Feb 20, 2020
Wilson disease187Apr 22, 2025
Wolcott-Rallison dysplasia60Feb 20, 2020
Wolff-Parkinson-White pattern79Feb 20, 2020
Wolfram-like syndrome1Dec 16, 2021
Woodhouse-Sakati syndrome114Feb 20, 2020
Woolly hair-skin fragility syndrome168Feb 20, 2020
X-linked Alport syndrome2Nov 15, 2023
X-linked Opitz G/BBB syndrome3Dec 14, 2020
X-linked agammaglobulinemia20Dec 16, 2021
X-linked agammaglobulinemia with growth hormone deficiency18Feb 20, 2020
X-linked chondrodysplasia punctata 11Dec 14, 2020
X-linked complex neurodevelopmental disorder1Feb 3, 2026
X-linked intellectual disability Cabezas type2Nov 15, 2023
X-linked intellectual disability, Cantagrel type1Mar 19, 2024
X-linked intellectual disability-short stature-overweight syndrome1May 28, 2024
X-linked lymphoproliferative disease due to SH2D1A deficiency28Feb 20, 2020
X-linked lymphoproliferative disease due to XIAP deficiency95Feb 20, 2020
X-linked mixed hearing loss with perilymphatic gusher11Feb 20, 2020
X-linked severe combined immunodeficiency10Feb 20, 2020
X-linked sideroblastic anemia 131Mar 19, 2024
X-linked sideroblastic anemia with ataxia10Feb 20, 2020
XPR1-related primary familial brain calcification1Aug 9, 2021
Xeroderma pigmentosum group A30Sep 19, 2023
Xeroderma pigmentosum group B52Feb 20, 2020
Xeroderma pigmentosum variant type209Feb 20, 2020
Xeroderma pigmentosum, group C101Apr 12, 2024
Xeroderma pigmentosum, group D95Feb 20, 2020
Xeroderma pigmentosum, group E33Feb 20, 2020
Xeroderma pigmentosum, group F160Feb 20, 2020
Xeroderma pigmentosum, group G109Feb 20, 2020
YWHAZ-related neurodevelopmental syndrome1Jun 29, 2023
ZBTB18-related intellectual disability2Dec 16, 2021
ZC4H2-related X-linked intellectual disability2Dec 16, 2021
ZMPSTE24-related disorder1Feb 1, 2019
ZTTK syndrome3Feb 3, 2026
beta Thalassemia16Feb 20, 2020
carboxymethyl-dextran-A2-gadolinium-DOTA111Feb 20, 2020
not provided429Jun 18, 2024
von Willebrand disease type 11Dec 14, 2020

Testing in GTR

Disease nameNumber of tests
Abnormal circulating lipid concentration1 test
Cardiac arrhythmia1 test
Cardiomyopathy1 test
Familial aortopathy1 test
Hereditary disease1 test