Mendelics

General information

Mendelics

Rua Cubatao, 86, cj 1202
Vila Mariana
Sao Paulo
Sao Paulo
Brazil - 04013-000
http://www.mendelics.com/
Organization ID: 500035

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 9265

Gene

GeneSubmissionsLast Updated
A2ML12Oct 22, 2019
AAAS1May 31, 2016
AAGAB1Oct 22, 2019
AARS13Oct 29, 2019
AARS21Oct 22, 2019
ABCA11Oct 22, 2019
ABCA121Oct 22, 2019
ABCA32Oct 22, 2019
ABCA449Feb 12, 2020
ABCB112Oct 22, 2019
ABCB418Apr 23, 2020
ABCC21Oct 22, 2019
ABCC66Oct 22, 2019
ABCC89Oct 22, 2019
ABCC93Oct 22, 2019
ABCD117Oct 22, 2019
ABCD42Oct 22, 2019
ABCG52Oct 22, 2019
ABCG81Oct 22, 2019
ABHD14A-ACY12Oct 22, 2019
ACAD111Oct 29, 2019
ACAD92Oct 22, 2019
ACADM4Oct 22, 2019
ACADS2Oct 22, 2019
ACADSB1Oct 22, 2019
ACADVL6Oct 22, 2019
ACAN4Oct 22, 2019
ACAT11Oct 22, 2019
ACBD63Oct 22, 2019
ACD1Oct 22, 2019
ACO24Oct 22, 2019
ACOX11Oct 22, 2019
ACP51Oct 22, 2019
ACTA13Oct 22, 2019
ACTA21Oct 22, 2019
ACTA2-AS11Oct 22, 2019
ACTB1Oct 22, 2019
ACTC12Oct 22, 2019
ACTG11Oct 22, 2019
ACTG21Oct 22, 2019
ACTN21Oct 22, 2019
ACVR2B1Oct 22, 2019
ACVRL12Oct 22, 2019
ACY12Oct 22, 2019
ACYP12Oct 29, 2019
ADA2Oct 22, 2019
ADA22Oct 22, 2019
ADAMTS102Oct 22, 2019
ADAMTS135Oct 22, 2019
ADAMTS181Oct 22, 2019
ADAMTS21Oct 22, 2019
ADAR4Oct 22, 2019
ADCY56Oct 22, 2019
ADGRG62Oct 22, 2019
ADGRV114Oct 22, 2019
ADK2Oct 22, 2019
ADNP6Oct 22, 2019
ADPRS2Oct 22, 2019
ADSL4Oct 22, 2019
AFF23Oct 22, 2019
AFF42Oct 22, 2019
AGA1Oct 22, 2019
AGL11Oct 22, 2019
AGRN2Oct 22, 2019
AGXT6Oct 22, 2019
AHDC14Oct 22, 2019
AHI18Oct 22, 2019
AICDA1Oct 22, 2019
AIFM12Oct 22, 2019
AIP2Oct 22, 2019
AIPL13Oct 22, 2019
AIRE3Oct 22, 2019
AKR1C21Oct 22, 2019
AKR1D11Oct 22, 2019
AKT110Oct 22, 2019
ALAS22Oct 22, 2019
ALB1Oct 22, 2019
ALDH3A22Oct 22, 2019
ALDH5A11Oct 22, 2019
ALDH7A13Oct 22, 2019
ALDOA2Oct 22, 2019
ALG14Oct 22, 2019
ALG131Oct 22, 2019
ALG61Oct 22, 2019
ALG91Oct 22, 2019
ALK2Oct 22, 2019
ALMS16Oct 22, 2019
ALOX12B1Oct 22, 2019
ALS23Oct 22, 2019
ALX11Oct 22, 2019
AMACR4Oct 22, 2019
AMER13Oct 22, 2019
AMH1Oct 22, 2019
AMT4Oct 22, 2019
ANAPC151Oct 22, 2019
ANG2Oct 29, 2019
ANK13Oct 22, 2019
ANK23Oct 22, 2019
ANK34Oct 22, 2019
ANKLE21Oct 22, 2019
ANKRD117Oct 22, 2019
ANKRD261Oct 22, 2019
ANLN1Oct 22, 2019
ANO511Oct 22, 2019
ANOS11Oct 22, 2019
ANTXR21Oct 22, 2019
ANXA111Oct 22, 2019
AOPEP35Oct 22, 2019
AP3B21Oct 22, 2019
AP4B11Oct 22, 2019
AP4B1-AS11Oct 22, 2019
AP4E11Oct 22, 2019
AP5Z11Oct 22, 2019
APC206Oct 22, 2019
APOB5Oct 22, 2019
APTX2Oct 22, 2019
AR4Oct 22, 2019
AREL12Oct 29, 2019
ARFGEF1-DT1Oct 22, 2019
ARFGEF22Oct 22, 2019
ARG14Oct 22, 2019
ARHGAP311Oct 22, 2019
ARHGEF62Oct 22, 2019
ARHGEF91Oct 22, 2019
ARID1A3Oct 22, 2019
ARID1B5Oct 22, 2019
ARID22Oct 22, 2019
ARID4A1Oct 29, 2019
ARL13B3Oct 22, 2019
ARNT22Oct 29, 2019
ARPC1B2Oct 22, 2019
ARSA5Oct 22, 2019
ARSB1Oct 22, 2019
ARX5Oct 22, 2019
ASAH12Oct 22, 2019
ASCC12Oct 22, 2019
ASCL11Oct 22, 2019
ASH1L1Oct 22, 2019
ASL3Oct 22, 2019
ASNS3Oct 22, 2019
ASS12Oct 22, 2019
ASTN22Oct 22, 2019
ASXL12Oct 22, 2019
ASXL21Oct 22, 2019
ASXL33Oct 22, 2019
ATF65Oct 22, 2019
ATIC2Oct 22, 2019
ATL15Oct 22, 2019
ATM334Oct 22, 2019
ATP13A21Oct 22, 2019
ATP1A23Oct 22, 2019
ATP1A35Oct 22, 2019
ATP2A23Oct 22, 2019
ATP6V0A45Oct 22, 2019
ATP6V1B12Oct 22, 2019
ATP6V1B22Oct 22, 2019
ATP7A9Oct 22, 2019
ATP7B16Oct 22, 2019
ATP8A22Oct 22, 2019
ATP8B15Oct 22, 2019
ATR3Oct 22, 2019
ATRIP1Oct 22, 2019
ATRIP-TREX11Oct 22, 2019
ATRX4Oct 22, 2019
ATXN21Oct 22, 2019
AUTS23Oct 22, 2019
AVPR25Oct 22, 2019
AXDND11Oct 22, 2019
AXIN25Oct 22, 2019
B2M1Oct 22, 2019
B3GALNT22Oct 22, 2019
B3GAT31Oct 22, 2019
B4GALT11Oct 22, 2019
B4GALT1-AS11Oct 22, 2019
B4GALT71Oct 22, 2019
BAG35Oct 22, 2019
BAP117Oct 22, 2019
BARD184Oct 22, 2019
BBS13Oct 22, 2019
BBS103Oct 22, 2019
BBS23Oct 22, 2019
BBS41Oct 22, 2019
BBS91Oct 22, 2019
BCAP311Oct 22, 2019
BCKDHB5Oct 22, 2019
BCL11A1Oct 22, 2019
BCL2L2-PABPN13Oct 22, 2019
BCS1L3Oct 22, 2019
BDNF1Oct 22, 2019
BDNF-AS1Oct 22, 2019
BDNF-AS11Oct 22, 2019
BEST13Oct 22, 2019
BICD23Oct 22, 2019
BIVM-ERCC55Oct 22, 2019
BLM84Oct 22, 2019
BLOC1S1-RDH51Oct 22, 2019
BMP152Oct 22, 2019
BMP21Oct 22, 2019
BMP42Oct 22, 2019
BMPR1A3Oct 22, 2019
BRAF8Oct 22, 2019
BRAT11Jun 21, 2015
BRCA1311Oct 22, 2019
BRCA2557Oct 22, 2019
BRD41Oct 29, 2019
BRIP1149Oct 22, 2019
BRWD33Jul 18, 2020
BSCL22Oct 22, 2019
BSND1Oct 22, 2019
BTD19Oct 22, 2019
BTK7Oct 22, 2019
BUB1B6Oct 22, 2019
BUB1B-PAK61Oct 22, 2019
C10orf1052Oct 22, 2019
C11orf65133Oct 22, 2019
C12orf431Oct 22, 2019
C12orf571Oct 22, 2019
C12orf603Oct 22, 2019
C17orf1071Oct 22, 2019
C19orf121Oct 22, 2019
C1QTNF3-AMACR4Oct 22, 2019
C1S1Oct 22, 2019
C23Oct 22, 2019
C2-AS11Oct 22, 2019
C2CD31Oct 22, 2019
C2orf881Oct 22, 2019
C32Oct 22, 2019
C8orf371Oct 22, 2019
C8orf37-AS11Oct 22, 2019
CA21Oct 22, 2019
CABP41Oct 22, 2019
CACNA1A15Oct 22, 2019
CACNA1B3Oct 22, 2019
CACNA1C7Oct 22, 2019
CACNA1C-AS12Oct 22, 2019
CACNA1D4Oct 22, 2019
CACNA1F3Oct 22, 2019
CACNA1S2Oct 22, 2019
CACNA2D42Oct 22, 2019
CACNB22Oct 22, 2019
CACNB41Oct 22, 2019
CAD3Oct 22, 2019
CAMTA12Oct 22, 2019
CAPN12Oct 22, 2019
CAPN34Oct 22, 2019
CARD111Oct 22, 2019
CARD141Oct 22, 2019
CASD12Oct 22, 2019
CASK9May 9, 2020
CASP105Oct 22, 2019
CASP82Oct 22, 2019
CASQ21Oct 22, 2019
CASR9Oct 22, 2019
CATSPER22Oct 29, 2019
CAV35Oct 22, 2019
CBL1Oct 22, 2019
CBS4Oct 22, 2019
CC2D2A7Oct 22, 2019
CCBE11Oct 22, 2019
CCDC401Oct 22, 2019
CCNF2Oct 29, 2019
CCNH1Oct 22, 2019
CD3201Oct 22, 2019
CD461Oct 22, 2019
CDC61Oct 22, 2019
CDC732Oct 22, 2019
CDH167Oct 22, 2019
CDH153Oct 22, 2019
CDH2312Oct 22, 2019
CDH31Oct 22, 2019
CDHR15Oct 22, 2019
CDK416Oct 22, 2019
CDKL517Oct 22, 2019
CDKN1B1Oct 22, 2019
CDKN1C1Oct 22, 2019
CDKN2A48Oct 22, 2019
CDON1Oct 22, 2019
CDSN2Oct 22, 2019
CDT12Oct 22, 2019
CENPJ2Oct 22, 2019
CEP1521Oct 29, 2019
CEP29015Oct 22, 2019
CEP571Oct 22, 2019
CEP85L1May 31, 2016
CERKL4Oct 22, 2019
CERS13Oct 29, 2019
CERT11Oct 29, 2019
CFB3Oct 22, 2019
CFC12Oct 22, 2019
CFH2Oct 22, 2019
CFHR51Oct 22, 2019
CFI2Oct 22, 2019
CFTR315Sep 14, 2020
CFTR-AS128May 21, 2020
CHAT2Oct 22, 2019
CHCHD103Oct 22, 2019
CHD27Oct 22, 2019
CHD31Oct 22, 2019
CHD41Oct 22, 2019
CHD712Oct 22, 2019
CHEK299Oct 22, 2019
CHM5Oct 22, 2019
CHRNA21Oct 22, 2019
CHRNB11Oct 22, 2019
CHRND3Oct 22, 2019
CHRNE1Oct 22, 2019
CHRNG1Oct 22, 2019
CHROMR1Oct 22, 2019
CHST81Oct 22, 2019
CIC2Oct 22, 2019
CIITA1Oct 22, 2019
CIZ11Oct 22, 2019
CLCN15Oct 22, 2019
CLCN23Oct 22, 2019
CLCN51Oct 22, 2019
CLCNKA2Oct 22, 2019
CLCNKB11Oct 22, 2019
CLDN161Oct 22, 2019
CLEC7A1Oct 22, 2019
CLN32Oct 22, 2019
CLN59Oct 22, 2019
CLN66Oct 22, 2019
CLN86Oct 22, 2019
CLPB1Oct 22, 2019
CLRN11Oct 22, 2019
CLTC1Oct 22, 2019
CNGA13Oct 22, 2019
CNGB13Oct 22, 2019
CNGB35Oct 22, 2019
CNNM21Oct 22, 2019
CNNM41Oct 22, 2019
CNTN11Oct 22, 2019
CNTN21Oct 22, 2019
CNTNAP11Oct 22, 2019
CNTNAP23Oct 22, 2019
COG11Oct 22, 2019
COG42Oct 22, 2019
COG51Oct 22, 2019
COG62Oct 22, 2019
COL10A14Oct 22, 2019
COL11A15Oct 22, 2019
COL11A24Oct 22, 2019
COL12A11Oct 22, 2019
COL18A16Oct 22, 2019
COL1A113Oct 22, 2019
COL1A27Oct 22, 2019
COL2A112Oct 22, 2019
COL3A16Oct 22, 2019
COL4A15Oct 22, 2019
COL4A23Oct 22, 2019
COL4A35Oct 22, 2019
COL4A42Oct 22, 2019
COL4A512Oct 22, 2019
COL5A14Oct 22, 2019
COL5A22Oct 22, 2019
COL6A14Oct 22, 2019
COL6A210Oct 22, 2019
COL6A311Oct 22, 2019
COL7A12Oct 22, 2019
COL9A12Oct 22, 2019
COL9A32Oct 22, 2019
COLQ3Oct 22, 2019
COMP4Oct 22, 2019
COQ8A2Oct 22, 2019
COX101Oct 22, 2019
CP2Oct 22, 2019
CPA61Oct 22, 2019
CPEB1-AS11Oct 22, 2019
CPLANE15Sep 16, 2020
CPN11Oct 22, 2019
CPOX1Oct 22, 2019
CPS111Nov 23, 2020
CPT1A1Oct 22, 2019
CPT1C1Oct 29, 2019
CPT23Oct 22, 2019
CRB121Jul 18, 2020
CREBBP7Oct 22, 2019
CRX5Oct 22, 2019
CRYGB1Oct 22, 2019
CRYGC1Oct 22, 2019
CSF1R1Oct 22, 2019
CSNK2A12Oct 22, 2019
CTC12Oct 22, 2019
CTCF3Oct 22, 2019
CTDP11Oct 22, 2019
CTNNA31Oct 22, 2019
CTNNB15Oct 22, 2019
CTNS3Oct 22, 2019
CTSK1Oct 22, 2019
CUBN2Oct 22, 2019
CUL31Oct 22, 2019
CUL4B1Oct 22, 2019
CUL71Oct 22, 2019
CUX21Oct 22, 2019
CYB5R32Oct 29, 2019
CYBA1Oct 22, 2019
CYBB3Oct 22, 2019
CYFIP22Oct 22, 2019
CYP11A11Oct 22, 2019
CYP11B21Oct 22, 2019
CYP1B11Oct 22, 2019
CYP21A29Oct 22, 2019
CYP27A15Oct 22, 2019
CYP27B11Oct 22, 2019
CYP2U11Jun 21, 2015
CYP4V23Oct 22, 2019
CZ1P-ASNS3Oct 22, 2019
D2HGDH2Oct 22, 2019
DAG12Oct 22, 2019
DARS24Oct 22, 2019
DBT2Oct 22, 2019
DCAF172Oct 22, 2019
DCC2Oct 22, 2019
DCDC21Oct 22, 2019
DCLRE1C4Oct 22, 2019
DCPS1Oct 22, 2019
DCTN13Oct 22, 2019
DDC3Oct 22, 2019
DDX113Oct 22, 2019
DDX3X4Oct 22, 2019
DDX581Oct 22, 2019
DDX591Oct 22, 2019
DEAF14Oct 22, 2019
DEPDC55Oct 22, 2019
DES4Oct 22, 2019
DGAT12Oct 22, 2019
DGUOK3Oct 22, 2019
DHCR72Oct 29, 2019
DHDDS1Jul 29, 2020
DHFR1Oct 22, 2019
DHTKD12Oct 22, 2019
DHX302Oct 22, 2019
DIAPH12Oct 22, 2019
DIAPH32Oct 22, 2019
DICER16Oct 22, 2019
DIP2A1Oct 29, 2019
DIPK1A1Oct 22, 2019
DLD1Oct 22, 2019
DLL32Oct 22, 2019
DMD233Oct 22, 2019
DMP11Oct 22, 2019
DNAAF11Oct 22, 2019
DNAAF21Oct 22, 2019
DNAH111Oct 22, 2019
DNAH51Oct 22, 2019
DNAJB21Nov 15, 2015
DNAJB62Oct 22, 2019
DNAJC121Oct 22, 2019
DNAJC131Oct 22, 2019
DNAJC211Oct 22, 2019
DNM12Oct 22, 2019
DNM1L6Oct 22, 2019
DNM21Oct 22, 2019
DNMT12Oct 29, 2019
DNMT3A1Oct 22, 2019
DNMT3B1Oct 22, 2019
DOCK23Oct 22, 2019
DOCK62Oct 22, 2019
DOCK72Oct 22, 2019
DOCK83Oct 22, 2019
DOK75Oct 22, 2019
DPAGT12Oct 22, 2019
DPP63Oct 22, 2019
DPYD3Oct 22, 2019
DSC22Oct 22, 2019
DSG23Oct 29, 2019
DSP4Oct 22, 2019
DSPP1Oct 22, 2019
DSTYK1Oct 22, 2019
DUOX23Oct 22, 2019
DUOXA21Oct 22, 2019
DUSP296Oct 22, 2019
DUSP61Oct 22, 2019
DVL11Oct 22, 2019
DYNC1H18Oct 22, 2019
DYNC2H15Oct 22, 2019
DYNC2I11Oct 22, 2019
DYNC2I21Oct 22, 2019
DYNC2LI12Oct 22, 2019
DYSF7Oct 22, 2019
EARS22Oct 22, 2019
EBF32Oct 22, 2019
EBP3Oct 22, 2019
ECHS110Oct 22, 2019
EDA5Oct 22, 2019
EDN32Oct 22, 2019
EDNRB1Oct 22, 2019
EED1Oct 22, 2019
EEF1A21Oct 22, 2019
EFTUD21Oct 22, 2019
EGFR43Oct 22, 2019
EGFR-AS13Oct 22, 2019
EGR21Oct 22, 2019
EHMT17Oct 22, 2019
EIF2AK33Oct 22, 2019
EIF2B53Oct 22, 2019
ELAC22Oct 22, 2019
ELANE6Aug 13, 2020
ELN2Oct 22, 2019
ELP12Oct 22, 2019
ELP41Oct 22, 2019
EMC12Oct 22, 2019
EMC1-AS12Oct 22, 2019
EMD1Oct 22, 2019
ENG2Oct 22, 2019
ENTPD12Oct 22, 2019
ENTPD1-AS12Oct 22, 2019
EP30012Oct 22, 2019
EPAS11Oct 22, 2019
EPCAM9Oct 22, 2019
EPG54Oct 22, 2019
EPM2A1Oct 22, 2019
EPM2AIP11Oct 22, 2019
ERBB41Oct 22, 2019
ERCC26Oct 22, 2019
ERCC38Oct 22, 2019
ERCC47Oct 22, 2019
ERCC55Oct 22, 2019
ERCC66Oct 22, 2019
ERCC6L21Oct 22, 2019
ESR21Oct 22, 2019
ETFB1Oct 22, 2019
ETFDH8Oct 22, 2019
EVC1Oct 22, 2019
EVI2A1Oct 22, 2019
EVI2B1Oct 22, 2019
EXOSC81Oct 22, 2019
EXOSC91Oct 22, 2019
EXT13Oct 22, 2019
EXT23Oct 22, 2019
EYA12Oct 22, 2019
EYS22Oct 22, 2019
F121Oct 22, 2019
F21Oct 22, 2019
F52Oct 22, 2019
F814Oct 22, 2019
F8A11Oct 22, 2019
F91Oct 22, 2019
FA2H3Oct 22, 2019
FAH5Oct 22, 2019
FAM111A1Oct 22, 2019
FAM20C1Oct 22, 2019
FAM83H1Oct 22, 2019
FANCA10Oct 22, 2019
FANCB1Oct 22, 2019
FANCC64Oct 22, 2019
FANCD217Oct 22, 2019
FANCD2OS3Oct 22, 2019
FANCE2Oct 22, 2019
FANCG2Oct 22, 2019
FANCI5Oct 22, 2019
FANCL5Oct 22, 2019
FANCM8Oct 22, 2019
FARS21Oct 22, 2019
FAS4Oct 22, 2019
FASLG4Oct 22, 2019
FASTKD23Oct 22, 2019
FAT43Oct 22, 2019
FBLN51Oct 22, 2019
FBN143Oct 22, 2019
FBN24Oct 22, 2019
FBP13Oct 22, 2019
FBXL36Oct 22, 2019
FBXL44Oct 22, 2019
FBXO113Oct 22, 2019
FCN31Oct 22, 2019
FDXR1Oct 22, 2019
FECH6Oct 22, 2019
FGA2Oct 22, 2019
FGD15Oct 22, 2019
FGD41Oct 22, 2019
FGF201Oct 22, 2019
FGF82Oct 22, 2019
FGFR11Oct 22, 2019
FGFR22Oct 22, 2019
FGFR36Oct 22, 2019
FH2Oct 22, 2019
FIG43Oct 22, 2019
FKBP102Oct 22, 2019
FKRP1Oct 22, 2019
FKTN1Oct 22, 2019
FLAD11Oct 22, 2019
FLCN6Oct 22, 2019
FLG4Oct 22, 2019
FLNA1Oct 22, 2019
FLNB2Oct 22, 2019
FLNC3Oct 22, 2019
FLT43Oct 22, 2019
FLVCR13Oct 22, 2019
FMO31Oct 22, 2019
FMR12Oct 22, 2019
FN11Oct 22, 2019
FNDC81Oct 22, 2019
FOXE11Oct 22, 2019
FOXE31Oct 22, 2019
FOXG13Oct 22, 2019
FOXL22Oct 22, 2019
FOXP16Oct 22, 2019
FOXP21Oct 22, 2019
FOXRED11Oct 22, 2019
FRAS11Oct 22, 2019
FREM12Oct 22, 2019
FREM24Oct 22, 2019
FRMD71Oct 22, 2019
FRRS1L1Oct 22, 2019
FTH11Oct 22, 2019
FTL1Oct 22, 2019
FUS4Oct 22, 2019
FZD21Oct 22, 2019
FZD41Oct 22, 2019
FZD61Oct 22, 2019
G6PC16Oct 22, 2019
G6PC31Oct 29, 2019
G6PD16Oct 22, 2019
GAA4Oct 22, 2019
GABRA13Oct 22, 2019
GABRA51Oct 29, 2019
GABRB31Oct 22, 2019
GABRG21Oct 22, 2019
GALC7Oct 22, 2019
GALE2Oct 22, 2019
GALK15Oct 22, 2019
GALNS5Oct 22, 2019
GALT12Oct 22, 2019
GAMT5Oct 29, 2019
GAREM21Oct 22, 2019
GARS11Oct 29, 2019
GATA26Oct 22, 2019
GATA32Oct 22, 2019
GATA41Oct 22, 2019
GATA61Oct 22, 2019
GATAD2B3Oct 22, 2019
GATM1Oct 22, 2019
GBA2Feb 11, 2020
GBE12Oct 22, 2019
GCDH8Oct 22, 2019
GCH15Oct 22, 2019
GCK3Oct 22, 2019
GDAP12Oct 22, 2019
GDF13Oct 29, 2019
GDNF1Oct 22, 2019
GFAP5Oct 22, 2019
GFI14Oct 22, 2019
GFM13Oct 22, 2019
GH-LCR1Oct 22, 2019
GH11Oct 22, 2019
GHR1Oct 22, 2019
GJA11Oct 22, 2019
GJB15Oct 22, 2019
GJB28Oct 22, 2019
GJB61Oct 22, 2019
GJC24Oct 22, 2019
GLA8Oct 22, 2019
GLB16Oct 22, 2019
GLDC5Oct 22, 2019
GLI22Oct 22, 2019
GLI35Oct 22, 2019
GLIS32Oct 22, 2019
GLMN1Oct 22, 2019
GLRA11Oct 22, 2019
GLRB1Oct 22, 2019
GML1Oct 22, 2019
GNAL1Oct 22, 2019
GNAO13Oct 22, 2019
GNAS2Oct 22, 2019
GNB52Oct 22, 2019
GNPAT1Oct 22, 2019
GNPTAB2Oct 22, 2019
GNRHR1Oct 22, 2019
GOLT1B1Oct 29, 2019
GOSR21Oct 22, 2019
GP1BA1Oct 22, 2019
GPAA12Oct 22, 2019
GPC31Oct 22, 2019
GPC61Oct 22, 2019
GPHN6Oct 22, 2019
GPR1011Oct 22, 2019
GPR1431Oct 22, 2019
GPR1521Oct 22, 2019
GRHL21Oct 22, 2019
GRIA21Oct 29, 2019
GRIA33Oct 22, 2019
GRIN11Oct 22, 2019
GRIN2A14Oct 22, 2019
GRIN2B8Oct 22, 2019
GRIN2D1Oct 22, 2019
GRIP11Oct 22, 2019
GRM11Oct 22, 2019
GRN3Oct 22, 2019
GSEC1Oct 22, 2019
GUCA1A1Oct 22, 2019
GUCY2C3Oct 22, 2019
GUCY2D12Oct 22, 2019
GUSB3Oct 22, 2019
GYS11Oct 22, 2019
GYS21Oct 22, 2019
H1-42Oct 29, 2019
H6PD1Oct 22, 2019
HACE11Oct 22, 2019
HADH2Oct 22, 2019
HADHA1Oct 22, 2019
HADHB3Oct 22, 2019
HAMP1Oct 22, 2019
HBA-LCR1Oct 22, 2019
HBB11Oct 22, 2019
HCN12Oct 22, 2019
HCN42Oct 22, 2019
HDAC42Oct 22, 2019
HDAC82Oct 22, 2019
HECW22Oct 22, 2019
HERC22Oct 22, 2019
HESX12Oct 22, 2019
HEXA3Oct 22, 2019
HEXB2Oct 22, 2019
HFE3Oct 22, 2019
HFE-AS12Oct 22, 2019
HGF1Oct 22, 2019
HGSNAT3Oct 22, 2019
HK11Oct 22, 2019
HLCS1Oct 22, 2019
HMBS1Oct 22, 2019
HMCN14Oct 22, 2019
HMGCL2Oct 22, 2019
HNF1A9Oct 22, 2019
HNF4A1Oct 22, 2019
HNRNPH21Oct 22, 2019
HNRNPK1Oct 22, 2019
HNRNPU2Oct 22, 2019
HNRNPUL2-BSCL22Oct 22, 2019
HPD2Oct 22, 2019
HPRT12Oct 22, 2019
HPSE21Oct 22, 2019
HRC2Oct 22, 2019
HS6ST14Oct 22, 2019
HSCB3Oct 29, 2019
HSD17B43Oct 22, 2019
HSPG25Oct 22, 2019
HUWE11Oct 22, 2019
HYDIN1Oct 22, 2019
HYLS11Oct 22, 2019
IARS22Oct 22, 2019
IDH21Oct 22, 2019
IDS3Oct 22, 2019
IDUA6Oct 22, 2019
IFIH15Oct 22, 2019
IFITM52Oct 22, 2019
IFNGR13Oct 22, 2019
IFT1402Oct 22, 2019
IFT801Jun 21, 2015
IGF11Oct 22, 2019
IGFALS1Oct 22, 2019
IGHMBP22Oct 22, 2019
IKBKB1Oct 22, 2019
IKBKG1Oct 22, 2019
IL10RA1Oct 22, 2019
IL10RB1Oct 22, 2019
IL12RB11Oct 22, 2019
IL17RC1Oct 22, 2019
IL17RD1Oct 22, 2019
IL1RAPL11Oct 22, 2019
IL2RA1Oct 22, 2019
IL2RG3Oct 22, 2019
IL36RN1Oct 22, 2019
IL7R2Oct 22, 2019
IMPG21Oct 22, 2019
INPPL11Oct 22, 2019
INS1Oct 22, 2019
INS-IGF21Oct 22, 2019
INSR9Oct 22, 2019
INSRR9Oct 22, 2019
INVS2Oct 22, 2019
IQCB14Oct 22, 2019
IQSEC23Oct 22, 2019
IRF2BPL2Oct 22, 2019
IRF61Nov 15, 2015
ITGA21Oct 22, 2019
ITGA71Oct 22, 2019
ITGB23Oct 22, 2019
ITGB42Oct 22, 2019
ITPA2Oct 22, 2019
ITPR13Oct 22, 2019
IVD3Oct 22, 2019
JAG13Oct 22, 2019
JAK34Oct 22, 2019
JPH11Oct 29, 2019
KANSL14Oct 22, 2019
KARS14Oct 29, 2019
KAT6A3Oct 22, 2019
KAT6B6Oct 22, 2019
KBTBD132Oct 22, 2019
KCNA22Oct 22, 2019
KCNA51Oct 22, 2019
KCNB13Oct 22, 2019
KCNC11Oct 22, 2019
KCNC32Oct 22, 2019
KCNE22Oct 22, 2019
KCNE32Oct 22, 2019
KCNH216Oct 22, 2019
KCNJ111Oct 29, 2019
KCNJ23Oct 29, 2019
KCNK122Oct 22, 2019
KCNK91Oct 22, 2019
KCNQ13Oct 22, 2019
KCNQ215Oct 22, 2019
KCNQ31Oct 22, 2019
KCNQ41Oct 22, 2019
KCNQ51Oct 22, 2019
KCNT19Oct 22, 2019
KCNT21Oct 22, 2019
KCNV21Oct 22, 2019
KDM5C1Oct 22, 2019
KIAA05863Oct 22, 2019
KIF111Oct 22, 2019
KIF1A7Oct 22, 2019
KIF1B3Oct 22, 2019
KIF222Oct 22, 2019
KIF4A1Oct 22, 2019
KIF5C1Oct 22, 2019
KIF71Oct 22, 2019
KIFBP1Oct 29, 2019
KIR3DL11Oct 22, 2019
KISS11Oct 22, 2019
KIT1Oct 22, 2019
KL1Oct 22, 2019
KLF14Oct 22, 2019
KLHL31Nov 15, 2015
KLHL411Oct 22, 2019
KLHL73Oct 22, 2019
KLLN4Oct 22, 2019
KMT2A14Oct 22, 2019
KMT2C1Oct 22, 2019
KMT2D20Oct 22, 2019
KMT2E2Jan 29, 2019
KMT5B1Oct 22, 2019
KNL11Oct 22, 2019
KPTN2Oct 22, 2019
KRAS1Oct 22, 2019
KRIT11Oct 22, 2019
KRT52Oct 22, 2019
KRT6B1Oct 22, 2019
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TTC21B-AS11Oct 22, 2019
TTN14Oct 22, 2019
TTN-AS14Oct 22, 2019
TTPA3Oct 22, 2019
TTR9Oct 22, 2019
TUBA1A2Oct 22, 2019
TUBB1Oct 22, 2019
TUBB2A2Oct 22, 2019
TUBB2B2Oct 22, 2019
TUBB4A1Oct 22, 2019
TUBGCP42Oct 22, 2019
TUBGCP61Oct 22, 2019
TULP16Oct 22, 2019
TUSC31Oct 22, 2019
TWIST11Oct 22, 2019
TYMP2Oct 22, 2019
TYR4Oct 22, 2019
TYRP11Oct 22, 2019
UBE2A1Oct 22, 2019
UBE3A6Oct 22, 2019
UBE3B1Oct 22, 2019
UBE4A1Oct 27, 2018
UGT1A3Oct 22, 2019
UGT1A13Oct 22, 2019
UGT1A103Oct 22, 2019
UGT1A33Oct 22, 2019
UGT1A43Oct 22, 2019
UGT1A53Oct 22, 2019
UGT1A63Oct 22, 2019
UGT1A73Oct 22, 2019
UGT1A83Oct 22, 2019
UGT1A93Oct 22, 2019
UMOD2Oct 22, 2019
UNC1192Oct 22, 2019
UNC13D8Oct 29, 2019
UNC804Oct 22, 2019
UPB12Oct 22, 2019
UPF3B1Oct 22, 2019
UROD2Oct 22, 2019
USH1C1Oct 22, 2019
USH2A46Oct 22, 2019
USH2A-AS14Oct 22, 2019
USH2A-AS24Oct 22, 2019
USP71Oct 29, 2019
UVSSA1Oct 22, 2019
VANGL12Oct 22, 2019
VAPB2Oct 22, 2019
VARS26Oct 22, 2019
VCAN1Oct 22, 2019
VCAN-AS11Oct 22, 2019
VCL2Oct 22, 2019
VCP1Nov 15, 2015
VDR1Oct 22, 2019
VHL8Oct 22, 2019
VPS13B11Oct 22, 2019
VPS33B1Oct 22, 2019
VRK24Oct 22, 2019
VSIR2Oct 22, 2019
VSX11Oct 22, 2019
VWF1Oct 22, 2019
WAS5Oct 22, 2019
WASF11Oct 29, 2019
WASHC51Oct 22, 2019
WDFY31Oct 22, 2019
WDR111Oct 22, 2019
WDR194Oct 22, 2019
WDR262Oct 22, 2019
WDR352Oct 22, 2019
WDR362Oct 22, 2019
WDR454Oct 22, 2019
WDR732Oct 22, 2019
WFS110Oct 22, 2019
WHRN6Oct 22, 2019
WIPF11Oct 22, 2019
WNK11Oct 22, 2019
WNT11Jan 5, 2015
WNT10A3Oct 22, 2019
WRAP533Oct 22, 2019
WRN7Oct 22, 2019
WT134Oct 22, 2019
WWOX5Oct 22, 2019
XDH2Oct 22, 2019
XIAP4Oct 22, 2019
XPC3Oct 22, 2019
XRCC230Oct 22, 2019
XYLT21Oct 22, 2019
YAP11Oct 22, 2019
YARS26Oct 22, 2019
YWHAG2Oct 22, 2019
ZBTB181Oct 22, 2019
ZBTB203Oct 22, 2019
ZBTB421Oct 22, 2019
ZC4H21Oct 22, 2019
ZDHHC241Oct 22, 2019
ZEB12Oct 22, 2019
ZEB28Oct 22, 2019
ZFPM23Oct 22, 2019
ZFPM2-AS13Oct 22, 2019
ZFYVE264Oct 22, 2019
ZFYVE271Oct 22, 2019
ZIC31Oct 22, 2019
ZMPSTE241Oct 22, 2019
ZNF2763Oct 22, 2019
ZNF4622Oct 29, 2019
ZNF4692Oct 22, 2019
ZNF6271Oct 22, 2019
ZNF6871Oct 22, 2019

Condition

NameSubmissionsLast Updated
2-aminoadipic 2-oxoadipic aciduria2Oct 22, 2019
22q13.3 deletion syndrome2Oct 22, 2019
3 Methylcrotonyl-CoA carboxylase 1 deficiency2Oct 22, 2019
3-Methylglutaconic aciduria type 21Oct 22, 2019
3-Methylglutaconic aciduria type 31Oct 22, 2019
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia1Oct 22, 2019
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Oct 22, 2019
46,XY sex reversal 81Oct 22, 2019
46,XY sex reversal 93Oct 22, 2019
AICAR transformylase/IMP cyclohydrolase deficiency2Oct 22, 2019
ALG1-CDG4Oct 22, 2019
ALG9 congenital disorder of glycosylation1Oct 22, 2019
AU-KLINE SYNDROME1Oct 22, 2019
Aarskog syndrome5Oct 22, 2019
Abnormality of neuronal migration2Oct 8, 2018
Achromatopsia 35Oct 22, 2019
Achromatopsia 75Oct 22, 2019
Acid-labile subunit deficiency1Oct 22, 2019
Acrocallosal syndrome1Oct 22, 2019
Acrofacial dysostosis, Cincinnati type1Oct 22, 2019
Acromesomelic dysplasia, Maroteaux type1Oct 22, 2019
Acute intermittent porphyria1Oct 22, 2019
Acyl-CoA dehydrogenase family, member 9, deficiency of2Oct 22, 2019
Adams-Oliver syndrome 11Oct 22, 2019
Adams-Oliver syndrome 22Oct 22, 2019
Adams-Oliver syndrome 512Oct 22, 2019
Adenylosuccinate lyase deficiency4Oct 22, 2019
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete1Oct 22, 2019
Adrenoleukodystrophy17Oct 22, 2019
Agammaglobulinemia 5, autosomal dominant2Oct 29, 2019
Age-related macular degeneration 14Oct 22, 2019
Age-related macular degeneration 31Oct 22, 2019
Aicardi Goutieres syndrome 11Oct 22, 2019
Aicardi Goutieres syndrome 21Oct 22, 2019
Aicardi Goutieres syndrome 41Oct 22, 2019
Aicardi Goutieres syndrome 51Oct 22, 2019
Al-Raqad syndrome1Oct 22, 2019
Alagille syndrome 13Oct 22, 2019
Alazami syndrome1Oct 22, 2019
Alexander Disease5Oct 22, 2019
Allan-Herndon-Dudley syndrome3Oct 22, 2019
Alopecia, neurologic defects, and endocrinopathy syndrome2Oct 22, 2019
Alpha thalassemia-X-linked intellectual disability syndrome4Oct 22, 2019
Alpha-1-antitrypsin deficiency7Oct 22, 2019
Alpha-methylacyl-CoA racemase deficiency4Oct 22, 2019
Alport syndrome 1, X-linked recessive14Oct 22, 2019
Alport syndrome, autosomal recessive5Oct 22, 2019
Alstrom syndrome6Oct 22, 2019
Alzheimer disease, type 31Oct 22, 2019
Alzheimer disease, type 41Oct 22, 2019
Amelogenesis imperfecta, hypocalcification type1Oct 22, 2019
Aminoacylase 1 deficiency2Oct 22, 2019
Amyloidogenic transthyretin amyloidosis9Oct 22, 2019
Amyotrophic lateral sclerosis 191Oct 22, 2019
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia4Oct 22, 2019
Amyotrophic lateral sclerosis type 16Oct 22, 2019
Amyotrophic lateral sclerosis type 113Oct 22, 2019
Amyotrophic lateral sclerosis type 231Oct 22, 2019
Amyotrophic lateral sclerosis type 46Oct 22, 2019
Amyotrophic lateral sclerosis type 82Oct 22, 2019
Amyotrophic lateral sclerosis type 92Oct 29, 2019
Analbuminemia1Oct 22, 2019
Anaphylotoxin inactivator deficiency1Oct 22, 2019
Androgen resistance syndrome4Oct 22, 2019
Anemia, nonspherocytic hemolytic, due to G6PD deficiency16Oct 22, 2019
Anemia, sideroblastic, 12Oct 22, 2019
Angelman syndrome6Oct 22, 2019
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps4Oct 22, 2019
Aniridia 12Oct 22, 2019
Anterior segment dysgenesis 11Oct 22, 2019
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1Oct 22, 2019
Aortic aneurysm, familial thoracic 43Oct 22, 2019
Aortic aneurysm, familial thoracic 61Oct 22, 2019
Aortic aneurysm, familial thoracic 71Oct 22, 2019
Arginase deficiency4Oct 22, 2019
Arginine:glycine amidinotransferase deficiency1Oct 22, 2019
Argininosuccinate lyase deficiency3Oct 22, 2019
Arrhythmogenic right ventricular cardiomyopathy, type 112Oct 22, 2019
Arrhythmogenic right ventricular cardiomyopathy, type 51Oct 22, 2019
Arrhythmogenic right ventricular dysplasia 910Oct 22, 2019
Arrhythmogenic right ventricular dysplasia, familial, 131Oct 22, 2019
Arthrogryposis multiplex congenita2Oct 8, 2018
Arthrogryposis, distal, with impaired proprioception and touch3Oct 22, 2019
Arthrogryposis, renal dysfunction, and cholestasis 11Oct 22, 2019
Asparagine synthetase deficiency3Oct 22, 2019
Aspartylglucosaminuria1Oct 22, 2019
Asphyxiating thoracic dystrophy 21Jun 21, 2015
Asphyxiating thoracic dystrophy 54Oct 22, 2019
Ataxia, sensory, autosomal dominant1May 31, 2016
Ataxia-oculomotor apraxia 31Oct 22, 2019
Ataxia-oculomotor apraxia 41Apr 20, 2015
Ataxia-oculomotor apraxia type 12Oct 22, 2019
Ataxia-telangiectasia syndrome334Oct 22, 2019
Ataxia-telangiectasia-like disorder 13Oct 22, 2019
Ataxia-telangiectasia-like disorder 21Oct 22, 2019
Atrial fibrillation, familial, 71Oct 22, 2019
Atrial septal defect 41Oct 22, 2019
Atrial septal defect 7 with or without atrioventricular conduction defects3Oct 22, 2019
Atrioventricular septal defect 41Oct 22, 2019
Atrioventricular septal defect 51Oct 22, 2019
Atrophia bulborum hereditaria1Oct 22, 2019
Atypical hemolytic-uremic syndrome 21Oct 22, 2019
Atypical hemolytic-uremic syndrome 32Oct 22, 2019
Atypical hemolytic-uremic syndrome 52Oct 22, 2019
Auditory neuropathy, autosomal dominant, 12Oct 22, 2019
Auditory neuropathy-optic atrophy syndrome1Oct 22, 2019
Auriculocondylar syndrome 21Oct 22, 2019
Autism 51Oct 22, 2019
Autism, susceptibility to, X-linked 21Oct 22, 2019
Autism, susceptibility to, X-linked 41Oct 22, 2019
Autoimmune lymphoproliferative syndrome13Oct 22, 2019
Autoimmune lymphoproliferative syndrome type 2B2Oct 22, 2019
Autosomal dominant isolated somatotropin deficiency1Oct 22, 2019
Autosomal dominant nonsyndromic deafness 2A1Oct 22, 2019
Autosomal dominant pseudohypoaldosteronism type 11Oct 22, 2019
Autosomal recessive DOPA responsive dystonia2Oct 22, 2019
Autosomal recessive congenital ichthyosis 12Oct 22, 2019
Autosomal recessive congenital ichthyosis 21Oct 22, 2019
Autosomal recessive congenital ichthyosis 4B1Oct 22, 2019
Autosomal recessive hypophosphatemic bone disease4Oct 22, 2019
Autosomal recessive hypophosphatemic vitamin D refractory rickets1Oct 22, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2B7Oct 22, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2D1Oct 22, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2E3Oct 22, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2F2Oct 22, 2019
Autosomal recessive multiple pterygium syndrome1Oct 22, 2019
Autosomal recessive omodysplasia1Oct 22, 2019
Autosomal recessive polycystic kidney disease16Oct 22, 2019
Autosomal recessive pseudohypoaldosteronism type 15Oct 22, 2019
Axenfeld-Rieger syndrome type 11Oct 22, 2019
B4GALT1-CDG1Oct 22, 2019
BLOOD GROUP--LUTHERAN INHIBITOR4Oct 22, 2019
Bainbridge-Ropers syndrome3Oct 22, 2019
Baller-Gerold syndrome7Oct 22, 2019
Bamforth-Lazarus syndrome1Oct 22, 2019
Baraitser-Winter syndrome 11Oct 22, 2019
Bardet-Biedl syndrome 13Oct 22, 2019
Bardet-Biedl syndrome 103Oct 22, 2019
Bardet-Biedl syndrome 131Oct 22, 2019
Bardet-Biedl syndrome 23Oct 22, 2019
Bardet-Biedl syndrome 41Oct 22, 2019
Bardet-Biedl syndrome 91Oct 22, 2019
Bare lymphocyte syndrome 21Oct 22, 2019
Bare lymphocyte syndrome type 13Oct 22, 2019
Bartter disease type 4a1Oct 22, 2019
Bartter syndrome type 311Oct 22, 2019
Bartter syndrome, type 1, antenatal1Oct 22, 2019
Bartter syndrome, type 4b2Oct 22, 2019
Basal laminar drusen2Oct 22, 2019
Beckwith-Wiedemann syndrome1Oct 22, 2019
Benign familial neonatal seizures 114Oct 22, 2019
Benign familial neonatal seizures 21Oct 22, 2019
Bernard Soulier syndrome1Oct 22, 2019
Bethlem myopathy 125Oct 22, 2019
Bietti crystalline corneoretinal dystrophy3Oct 22, 2019
Bifunctional peroxisomal enzyme deficiency3Oct 22, 2019
Biotin-responsive basal ganglia disease2Oct 22, 2019
Biotinidase deficiency19Oct 22, 2019
Birk-Barel syndrome1Oct 22, 2019
Blau syndrome2Oct 22, 2019
Blepharophimosis, ptosis, and epicanthus inversus2Oct 22, 2019
Bloom syndrome84Oct 22, 2019
Bohring-Opitz syndrome2Oct 22, 2019
Bone marrow failure syndrome 21Oct 22, 2019
Bone marrow failure syndrome 31Oct 22, 2019
Bone mineral density quantitative trait locus 181Oct 22, 2019
Brain small vessel disease with hemorrhage1May 30, 2014
Branchiooculofacial syndrome1Oct 22, 2019
Branchiootorenal syndrome 21Oct 22, 2019
Breast-ovarian cancer, familial 1201Oct 22, 2019
Breast-ovarian cancer, familial 2365Oct 22, 2019
Breast-ovarian cancer, familial 432Oct 22, 2019
Breasts and/or nipples, aplasia or hypoplasia of, 21Oct 22, 2019
Brittle cornea syndrome 12Oct 22, 2019
Bronchiectasis with or without elevated sweat chloride 11Oct 22, 2019
Brown-Vialetto-Van Laere syndrome 11Oct 22, 2019
Brown-Vialetto-Van Laere syndrome 22Oct 22, 2019
Brugada syndrome 167Oct 22, 2019
Brugada syndrome 42Oct 22, 2019
Brugada syndrome 52Oct 22, 2019
Brugada syndrome 82Oct 22, 2019
CFHR5 deficiency1Oct 22, 2019
CHARGE association12Oct 22, 2019
COG1 congenital disorder of glycosylation1Oct 22, 2019
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome1Oct 22, 2019
Camptomelic dysplasia1Oct 22, 2019
Candidiasis, familial, 91Oct 22, 2019
Capillary malformation-arteriovenous malformation 11Oct 22, 2019
Carcinoma of colon3Oct 22, 2019
Cardiac arrhythmia, ankyrin B-related3Oct 22, 2019
Cardiac, facial, and digital anomalies with developmental delay1Oct 22, 2019
Cardiac-urogenital syndrome1Oct 22, 2019
Cardiofaciocutaneous syndrome 18Oct 22, 2019
Cardiofaciocutaneous syndrome 31Oct 22, 2019
Cardiofaciocutaneous syndrome 41Oct 22, 2019
Carney complex, type 12Oct 22, 2019
Carney-Stratakis syndrome2Oct 22, 2019
Carnitine palmitoyltransferase 1A deficiency1Oct 22, 2019
Carnitine palmitoyltransferase II deficiency, infantile3Oct 22, 2019
Cataract 2, multiple types1Oct 22, 2019
Cataract 21, multiple types1Oct 22, 2019
Cataract 39, multiple types1Oct 22, 2019
Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia2Oct 22, 2019
Catecholaminergic polymorphic ventricular tachycardia type 16Oct 22, 2019
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 42Oct 22, 2019
Cerebellar ataxia, nonprogressive, with mental retardation2Oct 22, 2019
Cerebellar atrophy, visual impairment, and psychomotor retardation2Oct 22, 2019
Cerebral arteriovenous malformation1Oct 22, 2019
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 114Oct 22, 2019
Cerebral cavernous malformation1Oct 22, 2019
Cerebroretinal microangiopathy with calcifications and cysts 12Oct 22, 2019
Charcot-Marie-Tooth Neuropathy X Type 15Oct 22, 2019
Charcot-Marie-Tooth disease axonal type 2C4Oct 22, 2019
Charcot-Marie-Tooth disease type 2D1Oct 29, 2019
Charcot-Marie-Tooth disease type 2K1Oct 29, 2019
Charcot-Marie-Tooth disease type 2P2Oct 22, 2019
Charcot-Marie-Tooth disease, axonal, type 2O7Oct 22, 2019
Charcot-Marie-Tooth disease, axonal, type 2z3Oct 22, 2019
Charcot-Marie-Tooth disease, demyelinating, type 1b2Oct 22, 2019
Charcot-Marie-Tooth disease, demyelinating, type 1d1Oct 22, 2019
Charcot-Marie-Tooth disease, dominant intermediate B1Oct 22, 2019
Charcot-Marie-Tooth disease, type 2A2A11Oct 22, 2019
Charcot-Marie-Tooth disease, type 2N3Oct 29, 2019
Charcot-Marie-Tooth disease, type 4A2Oct 22, 2019
Charcot-Marie-Tooth disease, type 4B11Oct 22, 2019
Charcot-Marie-Tooth disease, type 4B21Oct 22, 2019
Charcot-Marie-Tooth disease, type 4C3Oct 22, 2019
Charcot-Marie-Tooth disease, type 4H1Oct 22, 2019
Charlevoix-Saguenay spastic ataxia5Oct 22, 2019
Child syndrome1Oct 22, 2019
Cholestanol storage disease5Oct 22, 2019
Cholestasis, progressive familial intrahepatic 122Apr 23, 2020
Chondrodysplasia punctata 2 X-linked dominant3Oct 22, 2019
Chops syndrome2Oct 22, 2019
Choreoathetosis, hypothyroidism, and neonatal respiratory distress8Oct 22, 2019
Choroideremia5Oct 22, 2019
Christianson syndrome3Oct 22, 2019
Chromosome 2q32-q33 deletion syndrome3Oct 22, 2019
Chromosome 2q37 deletion syndrome2Oct 22, 2019
Chromosome Xq28 deletion syndrome1Oct 22, 2019
Chronic and progressive ataxia1Jan 5, 2015
Chronic granulomatous disease, X-linked3Oct 22, 2019
Chédiak-Higashi syndrome3Oct 22, 2019
Ciliary dyskinesia, primary, 101Oct 22, 2019
Ciliary dyskinesia, primary, 131Oct 22, 2019
Ciliary dyskinesia, primary, 151Oct 22, 2019
Ciliary dyskinesia, primary, 31Oct 22, 2019
Ciliary dyskinesia, primary, 51Oct 22, 2019
Ciliary dyskinesia, primary, 71Oct 22, 2019
Citrullinemia type I4Oct 22, 2019
Clark-Baraitser syndrome4Oct 22, 2019
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency9Oct 22, 2019
Classic homocystinuria4Oct 22, 2019
Cleft lip/palate-ectodermal dysplasia syndrome1Oct 22, 2019
Cleft palate with or without ankyloglossia, X-linked2Oct 22, 2019
Cleft palate, cardiac defects, and mental retardation1Oct 22, 2019
Cleidocranial dysostosis2Oct 22, 2019
Cobalamin C disease3Oct 22, 2019
Coenzyme Q10 deficiency, primary, 42Oct 22, 2019
Coffin-Lowry syndrome3Oct 22, 2019
Coffin-Siris syndrome 15Oct 22, 2019
Coffin-Siris syndrome 62Oct 22, 2019
Cohen syndrome11Oct 22, 2019
Cohen-Gibson syndrome1Oct 22, 2019
Cole-Carpenter syndrome 21Oct 22, 2019
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation1Oct 22, 2019
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1Oct 22, 2019
Colorectal cancer 1046Oct 22, 2019
Colorectal cancer, susceptibility to, 1255Oct 22, 2019
Combined cellular and humoral immune defects with granulomas3Oct 22, 2019
Combined oxidative phosphorylation deficiency 13Oct 22, 2019
Combined oxidative phosphorylation deficiency 112Oct 22, 2019
Combined oxidative phosphorylation deficiency 122Oct 22, 2019
Combined oxidative phosphorylation deficiency 131Oct 22, 2019
Combined oxidative phosphorylation deficiency 141Oct 22, 2019
Combined oxidative phosphorylation deficiency 172Oct 22, 2019
Combined oxidative phosphorylation deficiency 206Oct 22, 2019
Combined oxidative phosphorylation deficiency 242Oct 22, 2019
Combined oxidative phosphorylation deficiency 81Oct 22, 2019
Common variable immunodeficiency 101Oct 22, 2019
Common variable immunodeficiency 22Oct 22, 2019
Common variable immunodeficiency 8, with autoimmunity4Oct 22, 2019
Complement component 2 deficiency4Oct 22, 2019
Complement component c1s deficiency1Oct 22, 2019
Cone dystrophy 34Oct 22, 2019
Cone dystrophy 42Oct 22, 2019
Cone-rod dystrophy 155Oct 22, 2019
Cone-rod dystrophy 161Oct 22, 2019
Cone-rod dystrophy 612Oct 22, 2019
Cone-rod dystrophy 71Oct 22, 2019
Congenital adrenal hypoplasia, X-linked1Oct 22, 2019
Congenital anomalies of kidney and urinary tract 1, susceptibility to1Oct 22, 2019
Congenital anomalies of kidney and urinary tract type 21Oct 22, 2019
Congenital bile acid synthesis defect 21Oct 22, 2019
Congenital cataracts-facial dysmorphism-neuropathy syndrome1Oct 22, 2019
Congenital central hypoventilation2Oct 22, 2019
Congenital contractural arachnodactyly4Oct 22, 2019
Congenital contractures of the limbs and face, hypotonia, and developmental delay2Oct 22, 2019
Congenital disorder of glycosylation type 1C1Oct 22, 2019
Congenital disorder of glycosylation type 1y1Jun 21, 2015
Congenital disorder of glycosylation type 2J2Oct 22, 2019
Congenital disorder of glycosylation type 2L2Oct 22, 2019
Congenital disorder of glycosylation type 2i1Oct 22, 2019
Congenital disorder of glycosylation type 2k1Oct 22, 2019
Congenital disorder of glycosylation, type Ia3Oct 22, 2019
Congenital disorder of glycosylation, type Iaa1Oct 22, 2019
Congenital dyserythropoietic anemia, type II2Oct 22, 2019
Congenital generalized lipodystrophy type 22Oct 22, 2019
Congenital glucose-galactose malabsorption3Oct 22, 2019
Congenital heart defects and ectodermal dysplasia1Oct 22, 2019
Congenital hyperammonemia, type I11Nov 23, 2020
Congenital hypomyelinating neuropathy 31Oct 22, 2019
Congenital microvillous atrophy4Oct 22, 2019
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A22Oct 22, 2019
Congenital muscular hypertrophy-cerebral syndrome6Oct 22, 2019
Congenital myopathy with excess of thin filaments3Oct 22, 2019
Congenital myotonia, autosomal dominant form1May 31, 2016
Congenital myotonia, autosomal recessive form4Oct 22, 2019
Congenital secretory diarrhea, chloride type2Oct 22, 2019
Congenital stationary night blindness, type 1C1Oct 22, 2019
Congenital stationary night blindness, type 1D1Oct 22, 2019
Congenital stationary night blindness, type 2A3Oct 22, 2019
Congenital stationary night blindness, type 2B1Oct 22, 2019
Corneal dystrophy, Fuchs endothelial, 62Oct 22, 2019
Corneal dystrophy, posterior polymorphous 41Oct 22, 2019
Cornelia de Lange syndrome 14Oct 22, 2019
Cornelia de Lange syndrome 32Apr 23, 2020
Cornelia de Lange syndrome 42Oct 22, 2019
Cornelia de Lange syndrome 52Oct 22, 2019
Cortical dysplasia, complex, with other brain malformations 21Oct 22, 2019
Cortical dysplasia, complex, with other brain malformations 52Oct 22, 2019
Cortical dysplasia, complex, with other brain malformations 61Oct 22, 2019
Corticosterone methyloxidase type 2 deficiency1Oct 22, 2019
Cortisone reductase deficiency 11Oct 22, 2019
Cowden syndrome9Aug 20, 2018
Cowden syndrome 113Oct 22, 2019
Cowden syndrome 610Oct 22, 2019
Cranioectodermal dysplasia 22Oct 22, 2019
Craniosynostosis 11Oct 22, 2019
Creatine transporter deficiency2Oct 22, 2019
Crigler-Najjar syndrome, type II3Oct 22, 2019
Crouzon syndrome2Oct 22, 2019
Curry-Hall syndrome1Oct 22, 2019
Curry-Jones syndrome1Oct 22, 2019
Cutaneous malignant melanoma 212Aug 20, 2018
Cutaneous malignant melanoma 316Oct 22, 2019
Cutis laxa, autosomal dominant 11Jun 21, 2015
Cyclical neutropenia5Aug 13, 2020
Cystic fibrosis315Sep 14, 2020
Cystinuria1Oct 22, 2019
D-2-hydroxyglutaric aciduria 12Oct 22, 2019
D-2-hydroxyglutaric aciduria 21Oct 22, 2019
DE SANCTIS-CACCHIONE SYNDROME6Oct 22, 2019
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome6Oct 22, 2019
DPAGT1-CDG2Oct 22, 2019
Danon disease1Oct 22, 2019
Deafness dystonia syndrome1Oct 22, 2019
Deafness, X-linked 21Oct 22, 2019
Deafness, X-linked 52Oct 22, 2019
Deafness, autosomal dominant 12Oct 22, 2019
Deafness, autosomal dominant 121Oct 22, 2019
Deafness, autosomal dominant 201Oct 22, 2019
Deafness, autosomal dominant 221Oct 22, 2019
Deafness, autosomal recessive 161Oct 22, 2019
Deafness, autosomal recessive 1A8Oct 22, 2019
Deafness, autosomal recessive 220Oct 22, 2019
Deafness, autosomal recessive 221Oct 22, 2019
Deafness, autosomal recessive 281Oct 22, 2019
Deafness, autosomal recessive 36Oct 22, 2019
Deafness, autosomal recessive 303Oct 22, 2019
Deafness, autosomal recessive 391Oct 22, 2019
Deafness, autosomal recessive 631Oct 22, 2019
Deafness, autosomal recessive 661Oct 22, 2019
Deafness, autosomal recessive 71Oct 22, 2019
Deafness, autosomal recessive 773Oct 22, 2019
Deafness, autosomal recessive 791Oct 22, 2019
Deafness, autosomal recessive 842Oct 22, 2019
Deafness, autosomal recessive 894Oct 29, 2019
Deafness, autosomal recessive 94Oct 22, 2019
Deficiency of 2-methylbutyryl-CoA dehydrogenase1Oct 22, 2019
Deficiency of 3-hydroxyacyl-CoA dehydrogenase2Oct 22, 2019
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase12Oct 22, 2019
Deficiency of acetyl-CoA acetyltransferase1Oct 22, 2019
Deficiency of aromatic-L-amino-acid decarboxylase3Oct 22, 2019
Deficiency of beta-ureidopropionase2Oct 22, 2019
Deficiency of butyryl-CoA dehydrogenase2Oct 22, 2019
Deficiency of cytochrome-b5 reductase2Oct 29, 2019
Deficiency of ferroxidase2Oct 22, 2019
Deficiency of galactokinase4Oct 22, 2019
Deficiency of hydroxymethylglutaryl-CoA lyase2Oct 22, 2019
Deficiency of iodide peroxidase2Oct 22, 2019
Deficiency of malonyl-CoA decarboxylase1Oct 22, 2019
Deficiency of phosphoserine phosphatase2Oct 22, 2019
Dent disease type 11Oct 22, 2019
Dentinogenesis imperfecta - Shield's type II1Oct 22, 2019
Developmental and epileptic encephalopathy, 562Oct 22, 2019
Developmental and epileptic encephalopathy, 571Oct 22, 2019
Developmental and epileptic encephalopathy, 652Oct 22, 2019
Developmental and epileptic encephalopathy, 661Oct 22, 2019
Developmental and epileptic encephalopathy, 671Oct 22, 2019
Developmental and epileptic encephalopathy, 791Oct 29, 2019
Developmental delay and seizures with or without movement abnormalities1Jul 29, 2020
Developmental delay with variable intellectual impairment and behavioral abnormalities1Oct 22, 2019
DiGeorge sequence2Oct 22, 2019
Diabetes mellitus AND insipidus with optic atrophy AND deafness10Oct 22, 2019
Diabetes mellitus, neonatal, with congenital hypothyroidism2Oct 22, 2019
Diamond-Blackfan anemia 12Oct 22, 2019
Diaphyseal dysplasia3Oct 22, 2019
Diaphyseal medullary stenosis-bone malignancy syndrome1Oct 22, 2019
Diarrhea 5, with tufting enteropathy, congenital9Oct 22, 2019
Diarrhea 72Oct 22, 2019
Dihydropteridine reductase deficiency3Oct 22, 2019
Dihydropyrimidine dehydrogenase deficiency3Oct 22, 2019
Dilated cardiomyopathy 1AA1Oct 22, 2019
Dilated cardiomyopathy 1CC1Oct 22, 2019
Dilated cardiomyopathy 1DD4Oct 22, 2019
Dilated cardiomyopathy 1G14Oct 22, 2019
Dilated cardiomyopathy 1JJ1Oct 22, 2019
Dilated cardiomyopathy 1KK1Oct 22, 2019
Dilated cardiomyopathy 1O3Oct 22, 2019
Dilated cardiomyopathy 1R1Nov 15, 2015
Dilated cardiomyopathy 1W2Oct 22, 2019
Dilated cardiomyopathy with woolly hair and keratoderma4Oct 22, 2019
Disseminated atypical mycobacterial infection3Oct 22, 2019
Distal arthrogryposis type 1A1Oct 22, 2019
Distal spinal muscular atrophy, autosomal recessive 21Oct 22, 2019
Dominant hereditary optic atrophy9Oct 22, 2019
Donnai-Barrow syndrome1Oct 22, 2019
Drash syndrome14Oct 22, 2019
Duane-radial ray syndrome1Oct 22, 2019
Dubin-Johnson syndrome1Oct 22, 2019
Duchenne muscular dystrophy233Oct 22, 2019
Dyskeratosis congenita, autosomal dominant 61Oct 22, 2019
Dyskeratosis congenita, autosomal recessive 62Oct 22, 2019
Dyskeratosis congenita, autosomal recessive, 31Oct 22, 2019
Dyskeratosis congenita, autosomal recessive, 54Oct 22, 2019
Dyskinesia, familial, with facial myokymia6Oct 22, 2019
Dystonia 125Oct 22, 2019
Dystonia 163Oct 22, 2019
Dystonia 251Oct 22, 2019
EEM syndrome1Oct 22, 2019
Early infantile epileptic encephalopathy 111May 31, 2016
Early infantile epileptic encephalopathy 1313Oct 22, 2019
Early infantile epileptic encephalopathy 149Oct 22, 2019
Early infantile epileptic encephalopathy 173Oct 22, 2019
Early infantile epileptic encephalopathy 217Oct 22, 2019
Early infantile epileptic encephalopathy 341Oct 22, 2019
Early infantile epileptic encephalopathy 49Oct 22, 2019
Early infantile epileptic encephalopathy 52Oct 22, 2019
Early infantile epileptic encephalopathy 552Oct 22, 2019
Early infantile epileptic encephalopathy 622Oct 22, 2019
Early infantile epileptic encephalopathy 71May 31, 2016
Early infantile epileptic encephalopathy 81Oct 22, 2019
Early infantile epileptic encephalopathy 915Oct 22, 2019
Ectodermal dysplasia, 'pure' hair-nail type1Oct 22, 2019
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 33Oct 22, 2019
Ehlers-Danlos syndrome dermatosparaxis type1Oct 22, 2019
Ehlers-Danlos syndrome due to tenascin-X deficiency3Oct 22, 2019
Ehlers-Danlos syndrome progeroid type1Oct 22, 2019
Ehlers-Danlos syndrome, classic type13Oct 22, 2019
Ehlers-Danlos syndrome, hydroxylysine-deficient2Oct 22, 2019
Ehlers-Danlos syndrome, type 46Oct 22, 2019
Eichsfeld type congenital muscular dystrophy1Oct 22, 2019
Emery-Dreifuss muscular dystrophy 1, X-linked1Oct 22, 2019
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1Sep 1, 2015
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1Oct 22, 2019
Encephalopathy due to defective mitochondrial and peroxisomal fission 16Oct 22, 2019
Encephalopathy, acute, infection-induced, 3, suceptibility to1Oct 22, 2019
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities2Oct 22, 2019
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis6Oct 22, 2019
Endplate acetylcholinesterase deficiency3Oct 22, 2019
Enhanced s-cone syndrome1Oct 22, 2019
Enterokinase deficiency1Jun 21, 2015
Epidermolysis bullosa junctionalis with pyloric atresia2Oct 22, 2019
Epidermolysis bullosa simplex with muscular dystrophy1Oct 22, 2019
Epidermolytic palmoplantar keratoderma1Oct 22, 2019
Epilepsy5Jan 29, 2019
Epilepsy, X-linked, with variable learning disabilities and behavior disorders1Oct 22, 2019
Epilepsy, childhood absence 11Oct 22, 2019
Epilepsy, childhood absence 21Oct 22, 2019
Epilepsy, early-onset, vitamin b6-dependent2Oct 22, 2019
Epilepsy, familial adult myoclonic, 51Oct 22, 2019
Epilepsy, familial focal, with variable foci 15Oct 22, 2019
Epilepsy, familial focal, with variable foci 31Oct 22, 2019
Epilepsy, focal, with speech disorder and with or without mental retardation14Oct 22, 2019
Epilepsy, nocturnal frontal lobe, type 41Oct 22, 2019
Epilepsy, progressive myoclonic 71Oct 22, 2019
Epilepsy, progressive myoclonic 83Oct 29, 2019
Epilepsy, progressive myoclonic, 91Oct 22, 2019
Epileptic encephalopathy, childhood-onset7Oct 22, 2019
Epileptic encephalopathy, early infantile, 110Oct 22, 2019
Epileptic encephalopathy, early infantile, 191Nov 15, 2015
Epileptic encephalopathy, early infantile, 232Oct 22, 2019
Epileptic encephalopathy, early infantile, 242Oct 22, 2019
Epileptic encephalopathy, early infantile, 255Oct 22, 2019
Epileptic encephalopathy, early infantile, 263Oct 22, 2019
Epileptic encephalopathy, early infantile, 302Oct 22, 2019
Epileptic encephalopathy, early infantile, 312Oct 22, 2019
Epileptic encephalopathy, early infantile, 322Oct 22, 2019
Epileptic encephalopathy, early infantile, 331Oct 22, 2019
Epileptic encephalopathy, early infantile, 361Oct 22, 2019
Epileptic encephalopathy, early infantile, 371Oct 22, 2019
Epileptic encephalopathy, early infantile, 461Oct 22, 2019
Epileptic encephalopathy, early infantile, 481Oct 22, 2019
Epileptic encephalopathy, early infantile, 503Oct 22, 2019
Epileptic encephalopathy, early infantile, 542Oct 22, 2019
Epileptic encephalopathy, infantile or early childhood 11Oct 22, 2019
Epiphyseal dysplasia, multiple, 32Oct 22, 2019
Episodic ataxia type 214Oct 22, 2019
Episodic kinesigenic dyskinesia 15Oct 22, 2019
Erythrocytosis, familial, 41Oct 22, 2019
Exercise-induced hyperinsulinism3Oct 22, 2019
Exudative vitreoretinopathy 11Oct 22, 2019
FG syndrome 12Oct 22, 2019
FRAXE3Oct 22, 2019
Fabry disease8Oct 22, 2019
Factor V deficiency2Oct 22, 2019
Factor XII deficiency disease1Oct 22, 2019
Familial Mediterranean fever99Oct 22, 2019
Familial X-linked hypophosphatemic vitamin D refractory rickets56Oct 22, 2019
Familial adenomatous polyposis 1205Oct 22, 2019
Familial adenomatous polyposis 31Oct 22, 2019
Familial adenomatous polyposis 42Oct 22, 2019
Familial cancer of breast367Oct 22, 2019
Familial chronic mucocutaneous candidiasis1Oct 22, 2019
Familial cold autoinflammatory syndrome 21Oct 22, 2019
Familial cold urticaria2Oct 22, 2019
Familial colorectal cancer60Aug 20, 2018
Familial dysautonomia2Oct 22, 2019
Familial hemiplegic migraine type 21Oct 22, 2019
Familial hemophagocytic lymphohistiocytosis 29Oct 22, 2019
Familial hemophagocytic lymphohistiocytosis 42Oct 22, 2019
Familial hypercholesterolemia 113Oct 22, 2019
Familial hypertrophic cardiomyopathy 120Oct 22, 2019
Familial hypertrophic cardiomyopathy 102Oct 22, 2019
Familial hypertrophic cardiomyopathy 111Oct 22, 2019
Familial hypertrophic cardiomyopathy 144Oct 22, 2019
Familial hypertrophic cardiomyopathy 181May 31, 2016
Familial hypertrophic cardiomyopathy 25Oct 22, 2019
Familial hypertrophic cardiomyopathy 444Oct 22, 2019
Familial hypokalemia-hypomagnesemia5Oct 22, 2019
Familial infantile myasthenia2Oct 22, 2019
Familial isolated deficiency of vitamin E3Oct 22, 2019
Familial juvenile gout2Oct 22, 2019
Familial medullary thyroid carcinoma21Aug 20, 2018
Familial partial lipodystrophy 61Oct 22, 2019
Familial platelet disorder with associated myeloid malignancy1Oct 22, 2019
Familial porphyria cutanea tarda2Oct 22, 2019
Familial renal glucosuria1Oct 22, 2019
Familial visceral amyloidosis, Ostertag type2Oct 22, 2019
Fanconi anemia, complementation group A106Oct 22, 2019
Fanconi anemia, complementation group C25Nov 11, 2018
Fanconi anemia, complementation group E2Oct 22, 2019
Fanconi anemia, complementation group J65Nov 11, 2018
Fanconi anemia, complementation group O28Oct 22, 2019
Fanconi anemia, complementation group U14Oct 22, 2019
Fanconi-Bickel syndrome1Oct 22, 2019
Farber disease2Oct 22, 2019
Febrile seizures, familial, 111Oct 22, 2019
Fibrochondrogenesis 15Oct 22, 2019
Finnish congenital nephrotic syndrome5Oct 22, 2019
Floating-Harbor syndrome4Oct 22, 2019
Focal segmental glomerulosclerosis 81Oct 22, 2019
Fragile X syndrome2Oct 22, 2019
Fraser syndrome 16Oct 22, 2019
Freeman-Sheldon syndrome4Oct 22, 2019
Frontonasal dysplasia 31Oct 22, 2019
Frontotemporal dementia8Oct 22, 2019
Fructose-biphosphatase deficiency3Oct 22, 2019
Fukuyama congenital muscular dystrophy1Oct 22, 2019
Fumarase deficiency2Oct 22, 2019
Fundus dystrophy, pseudoinflammatory, recessive form1Oct 22, 2019
GLUT1 deficiency syndrome 16Oct 22, 2019
GM1 gangliosidosis type 24Oct 22, 2019
GRACILE syndrome3Oct 22, 2019
GTP cyclohydrolase I deficiency5Oct 22, 2019
Galactosylceramide beta-galactosidase deficiency7Oct 22, 2019
Galloway-Mowat syndrome 12Oct 22, 2019
Gastrointestinal stromal tumor12Oct 22, 2019
Gaucher's disease, type 12Feb 11, 2020
Generalized epilepsy with febrile seizures plus, type 23Jun 21, 2015
Generalized epilepsy with febrile seizures plus, type 91Oct 22, 2019
Genitopatellar syndrome6Oct 22, 2019
Ghosal hematodiaphyseal dysplasia1Oct 22, 2019
Global developmental delay1Oct 29, 2019
Glomuvenous malformations1Oct 22, 2019
Glucocorticoid deficiency with achalasia1May 31, 2016
Glucocorticoid resistance, generalized1Oct 22, 2019
Glutaric aciduria, type 18Oct 22, 2019
Glycogen storage disease IXc2Oct 22, 2019
Glycogen storage disease IXd1Oct 22, 2019
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA6Oct 22, 2019
Glycogen storage disease due to hepatic glycogen synthase deficiency1Oct 22, 2019
Glycogen storage disease type III11Oct 22, 2019
Glycogen storage disease type IXa110Oct 22, 2019
Glycogen storage disease, type II4Oct 22, 2019
Glycogen storage disease, type IV2Oct 22, 2019
Glycogen storage disease, type V3Oct 22, 2019
Glycogen storage disease, type VI4Oct 22, 2019
Glycosylphosphatidylinositol biosynthesis defect 152Oct 22, 2019
Gnathodiaphyseal dysplasia11Oct 22, 2019
Gordon Holmes syndrome1Oct 22, 2019
Gorlin syndrome17Oct 22, 2019
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1Oct 22, 2019
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III3Oct 22, 2019
Greig cephalopolysyndactyly syndrome5Oct 22, 2019
Griscelli syndrome type 11Oct 22, 2019
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions3Oct 22, 2019
Growth delay due to insulin-like growth factor type 1 deficiency1Oct 22, 2019
HNSHA due to aldolase A deficiency2Oct 22, 2019
Hajdu-Cheney syndrome5Oct 22, 2019
Hawkinsinuria2Oct 22, 2019
Hecht syndrome1Oct 22, 2019
Helsmoortel-Van der Aa Syndrome6Oct 22, 2019
Hemochromatosis type 18Oct 22, 2019
Hemophagocytic lymphohistiocytosis, familial, 53Oct 22, 2019
Hennekam lymphangiectasia-lymphedema syndrome 11Oct 22, 2019
Heparin cofactor II deficiency1Oct 22, 2019
Hepatitis c virus, susceptibility to2Oct 22, 2019
Hepatocellular carcinoma5Oct 22, 2019
Hereditary breast and ovarian cancer syndrome361Aug 20, 2018
Hereditary cancer22Aug 20, 2018
Hereditary cancer-predisposing syndrome152Oct 29, 2019
Hereditary coproporphyria1Oct 22, 2019
Hereditary diffuse gastric cancer67Oct 22, 2019
Hereditary diffuse leukoencephalopathy with spheroids1Oct 22, 2019
Hereditary factor IX deficiency disease1Oct 22, 2019
Hereditary factor VIII deficiency disease14Oct 22, 2019
Hereditary hemorrhagic telangiectasia type 12Oct 22, 2019
Hereditary hyperferritinemia with congenital cataracts1Oct 22, 2019
Hereditary insensitivity to pain with anhidrosis15Oct 22, 2019
Hereditary liability to pressure palsies2Oct 22, 2019
Hereditary motor and sensory neuropathy, Okinawa type1Oct 22, 2019
Hereditary nonpolyposis colorectal cancer type 460Oct 22, 2019
Hereditary nonpolyposis colorectal cancer type 5104Oct 22, 2019
Hereditary pancreatitis9Oct 23, 2020
Hereditary pyropoikilocytosis4Oct 22, 2019
Hereditary sensory and autonomic neuropathy type IIA7Oct 22, 2019
Hereditary spastic paraplegia 153Oct 22, 2019
Hereditary spastic paraplegia 3A5Oct 22, 2019
Hereditary spastic paraplegia 73Oct 22, 2019
Heterotaxy, visceral, 1, X-linked1Oct 22, 2019
Heterotaxy, visceral, 2, autosomal2Oct 22, 2019
Heterotaxy, visceral, 4, autosomal1Oct 22, 2019
Heterotopia, periventricular, autosomal recessive2Oct 22, 2019
Hidrotic ectodermal dysplasia syndrome1Oct 22, 2019
Hirschsprung disease 31Oct 22, 2019
Holocarboxylase synthetase deficiency1Oct 22, 2019
Holoprosencephaly 15Oct 22, 2019
Holt-Oram syndrome7Oct 22, 2019
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type1Oct 22, 2019
Huntington disease-like 14Oct 22, 2019
Hurler syndrome6Oct 22, 2019
Hutchinson-Gilford syndrome6Oct 22, 2019
Hyaline fibromatosis syndrome1Oct 22, 2019
Hydrocephalus, congenital, 2, with or without brain or eye anomalies1Oct 22, 2019
Hydrolethalus syndrome 11Oct 22, 2019
Hydrops fetalis2Oct 8, 2018
Hyper-IgE recurrent infection syndrome 1, autosomal dominant2Oct 22, 2019
Hyper-IgM syndrome type 21Oct 22, 2019
Hyperekplexia 11Oct 22, 2019
Hyperekplexia 21Oct 22, 2019
Hyperekplexia 34Oct 22, 2019
Hyperglycinuria2Oct 22, 2019
Hyperimmunoglobulin D with periodic fever3Oct 22, 2019
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive3Oct 22, 2019
Hyperinsulinemic hypoglycemia, familial, 19Oct 22, 2019
Hyperlipoproteinemia, type I2Oct 22, 2019
Hypermethioninemia due to adenosine kinase deficiency2Oct 22, 2019
Hyperphenylalaninemia, BH4-deficient, D1Oct 22, 2019
Hyperphenylalaninemia, mild, non-bh4-deficient1Oct 22, 2019
Hyperphosphatasemia with bone disease1Oct 22, 2019
Hyperphosphatasia with mental retardation syndrome 21Oct 22, 2019
Hyperphosphatasia with mental retardation syndrome 34Oct 22, 2019
Hyperphosphatemic familial tumoral calcinosis 11Oct 22, 2019
Hypertelorism, Teebi type4Oct 22, 2019
Hyperthyroidism, nonautoimmune2Oct 22, 2019
Hypertrophic cardiomyopathy 251Oct 22, 2019
Hypocalcemia, autosomal dominant 11Jun 21, 2015
Hypocalciuric hypercalcemia, familial, type 18Oct 22, 2019
Hypochondroplasia6Oct 22, 2019
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities2Oct 22, 2019
Hypogonadotropic hypogonadism 1 with or without anosmia1Oct 22, 2019
Hypogonadotropic hypogonadism 13 with or without anosmia1Oct 22, 2019
Hypogonadotropic hypogonadism 14 with or without anosmia1Oct 22, 2019
Hypogonadotropic hypogonadism 16 with or without anosmia3Oct 22, 2019
Hypogonadotropic hypogonadism 19 with or without anosmia1Oct 22, 2019
Hypogonadotropic hypogonadism 4 with or without anosmia1Oct 22, 2019
Hypogonadotropic hypogonadism 7 with or without anosmia5Oct 22, 2019
Hypohidrotic X-linked ectodermal dysplasia5Oct 22, 2019
Hypokalemic periodic paralysis 12Oct 22, 2019
Hypomagnesemia, seizures, and mental retardation 11Oct 22, 2019
Hypomyelinating leukodystrophy 73Oct 22, 2019
Hypoparathyroidism-deafness-renal disease syndrome2Oct 22, 2019
Hypoplastic enamel-onycholysis-hypohidrosis syndrome2Oct 22, 2019
Hypospadias 2, X-linked1Oct 22, 2019
Hypothyroidism, congenital, nongoitrous, 24Oct 22, 2019
Hypothyroidism, congenital, nongoitrous, 61Oct 22, 2019
Hypotonia, ataxia, and delayed development syndrome2Oct 22, 2019
Hypotonia, infantile, with psychomotor retardation and characteristic facies 24Oct 22, 2019
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Oct 22, 2019
Ichthyosis prematurity syndrome2Oct 22, 2019
Ichthyosis vulgaris4Oct 22, 2019
Idiopathic Pulmonary Fibrosis9Oct 22, 2019
Idiopathic generalized epilepsy1Oct 22, 2019
Idiopathic nephrotic syndrome1Oct 22, 2019
Imerslund-Gräsbeck syndrome2Oct 22, 2019
Immunodeficiency 111Oct 22, 2019
Immunodeficiency 132Oct 22, 2019
Immunodeficiency 141Oct 22, 2019
Immunodeficiency 151Oct 22, 2019
Immunodeficiency 301Oct 22, 2019
Immunodeficiency 403Oct 22, 2019
Immunodeficiency 501Oct 22, 2019
Immunodeficiency due to ficolin 3 deficiency1Oct 22, 2019
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia1Oct 22, 2019
Immunodeficiency-centromeric instability-facial anomalies syndrome 11Oct 22, 2019
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 11Nov 15, 2015
Indifference to pain, congenital, autosomal recessive1Jun 21, 2015
Infantile GM1 gangliosidosis1Jun 21, 2015
Infantile Refsum's disease2Oct 22, 2019
Infantile cerebellar-retinal degeneration4Oct 22, 2019
Infantile liver failure syndrome 11Oct 29, 2019
Infantile liver failure syndrome 25Oct 22, 2019
Infantile myofibromatosis 11Oct 22, 2019
Infantile nephronophthisis2Oct 22, 2019
Infantile neuroaxonal dystrophy9Oct 22, 2019
Infantile nystagmus, X-linked1Oct 22, 2019
Infantile-onset ascending hereditary spastic paralysis3Oct 22, 2019
Inflammatory bowel disease 25, autosomal recessive1Oct 22, 2019
Inflammatory bowel disease 28, autosomal recessive1Oct 22, 2019
Inosine triphosphatase deficiency2Oct 22, 2019
Insulin-resistant diabetes mellitus AND acanthosis nigricans9Oct 22, 2019
Intellectual developmental disorder with cardiac arrhythmia2Oct 22, 2019
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1Oct 22, 2019
Intellectual developmental disorder with persistence of fetal hemoglobin1Oct 22, 2019
Intellectual disability1Oct 29, 2019
Intellectual disability, X-linked 211Oct 22, 2019
Intellectual disability, autosomal dominant 452Oct 22, 2019
Intellectual disability, autosomal dominant 461Oct 22, 2019
Intellectual disability, autosomal dominant 471Oct 22, 2019
Intellectual disability, autosomal dominant 511Oct 22, 2019
Intellectual disability, autosomal dominant 521Oct 22, 2019
Intellectual disability, autosomal dominant 561Oct 22, 2019
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome3Oct 22, 2019
Intellectual disability-developmental delay-contractures syndrome1Oct 22, 2019
Interleukin 2 receptor, alpha, deficiency of1Oct 22, 2019
Interstitial lung and liver disease2Oct 22, 2019
Iodotyrosyl coupling defect3Oct 22, 2019
Irido-corneo-trabecular dysgenesis2Oct 22, 2019
Isolated sulfite oxidase deficiency6Oct 22, 2019
Isovaleryl-CoA dehydrogenase deficiency3Oct 22, 2019
Jalili syndrome1Oct 22, 2019
Joubert syndrome 146Oct 22, 2019
Joubert syndrome 171Sep 16, 2020
Joubert syndrome 202Oct 22, 2019
Joubert syndrome 233Oct 22, 2019
Joubert syndrome 31Jun 21, 2015
Joubert syndrome 91Jun 21, 2015
Juvenile myoclonic epilepsy3Oct 22, 2019
Juvenile polyposis syndrome5Oct 22, 2019
KBG syndrome1Nov 15, 2015
Kabuki syndrome 120Oct 22, 2019
Kallmann syndrome 32Oct 22, 2019
Kaufman oculocerebrofacial syndrome1Oct 22, 2019
Keratoconus 11Oct 22, 2019
Keratosis follicularis3Oct 22, 2019
Keratosis palmoplantaris papulosa1Oct 22, 2019
Kleefstra syndrome 17Oct 22, 2019
Kleefstra syndrome 21Oct 22, 2019
Knobloch syndrome 16Oct 22, 2019
Kohlschutter's syndrome2Oct 22, 2019
Koolen-de Vries syndrome4Oct 22, 2019
Kufor-Rakeb syndrome1Oct 22, 2019
L-2-hydroxyglutaric aciduria1Oct 22, 2019
LEOPARD syndrome 25Oct 22, 2019
Lamb-shaffer syndrome1Oct 22, 2019
Landsteiner-Wiener phenotype1Oct 22, 2019
Laron-type isolated somatotropin defect1Oct 22, 2019
Larsen syndrome2Oct 22, 2019
Leber congenital amaurosis 149Oct 22, 2019
Leber congenital amaurosis 136Oct 22, 2019
Leber congenital amaurosis 28Oct 22, 2019
Leber congenital amaurosis 81Jul 18, 2020
Left ventricular noncompaction 81Oct 22, 2019
Legius syndrome2Oct 22, 2019
Leigh syndrome16Oct 22, 2019
Lenz-Majewski hyperostosis syndrome1Oct 22, 2019
Lesch-Nyhan syndrome2Oct 22, 2019
Lethal congenital contracture syndrome 61Oct 22, 2019
Lethal congenital contracture syndrome 92Oct 22, 2019
Lethal multiple pterygium syndrome3Oct 22, 2019
Lethal osteosclerotic bone dysplasia1Oct 22, 2019
Lethal tight skin contracture syndrome1Oct 22, 2019
Leukemia, acute lymphoblastic, susceptibility to, 31Oct 22, 2019
Leukocyte adhesion deficiency 13Oct 22, 2019
Leukodystrophy and acquired microcephaly with or without dystonia2Oct 22, 2019
Leukodystrophy, hypomyelinating, 24Oct 22, 2019
Leukodystrophy, hypomyelinating, 61Oct 22, 2019
Leukodystrophy, hypomyelinating, 91Oct 29, 2019
Leukoencephalopathy1Jan 29, 2019
Leukoencephalopathy with ataxia3Oct 22, 2019
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome4Oct 22, 2019
Leukoencephalopathy with dystonia and motor neuropathy1Oct 22, 2019
Leukoencephalopathy with vanishing white matter3Oct 22, 2019
Li-Fraumeni syndrome27Aug 20, 2018
Li-Fraumeni syndrome 11May 16, 2020
Limb-girdle muscular dystrophy, type 1E2Oct 22, 2019
Limb-girdle muscular dystrophy, type 1F1Oct 22, 2019
Limb-girdle muscular dystrophy, type 2A4Oct 22, 2019
Limb-girdle muscular dystrophy-dystroglycanopathy, type C12Oct 22, 2019
Limb-girdle muscular dystrophy-dystroglycanopathy, type C51Oct 22, 2019
Limb-girdle muscular dystrophy-dystroglycanopathy, type C92Oct 22, 2019
Lissencephaly 32Oct 22, 2019
Lissencephaly due to LIS1 mutation2Oct 22, 2019
Localized epidermolysis bullosa simplex2Oct 22, 2019
Loeys-Dietz syndrome 11Oct 22, 2019
Loeys-Dietz syndrome 32Oct 22, 2019
Long QT syndrome1Oct 29, 2019
Long QT syndrome 110Oct 22, 2019
Long QT syndrome 216Oct 22, 2019
Long QT syndrome 62Oct 22, 2019
Lowe syndrome2Oct 22, 2019
Lung carcinoma21Oct 22, 2019
Lymphedema, hereditary, III3Oct 22, 2019
Lymphedema, primary, with myelodysplasia6Oct 22, 2019
Lymphoproliferative syndrome 2, X-linked4Oct 22, 2019
Lynch syndrome206Aug 20, 2018
Lynch syndrome I89Oct 22, 2019
Lynch syndrome II78Apr 21, 2020
METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION1Oct 22, 2019
MPI-CDG1Oct 22, 2019
MYH-associated polyposis75Oct 22, 2019
Macrocephalus1Jan 29, 2019
Macrocephaly, alopecia, cutis laxa, and scoliosis1Oct 22, 2019
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss4Oct 22, 2019
Macular dystrophy, patterned, 19Oct 22, 2019
Malignant hyperthermia, susceptibility to, 129Oct 22, 2019
Malignant tumor of prostate4Oct 22, 2019
Mandibulofacial dysostosis-microcephaly syndrome1Oct 22, 2019
Maple syrup urine disease7Oct 22, 2019
Maple syrup urine disease, type 31Oct 22, 2019
Marfan syndrome49Oct 22, 2019
Marinesco-Sjögren syndrome2Oct 22, 2019
Marshall-Smith syndrome4Oct 22, 2019
Matthew-Wood syndrome1Oct 22, 2019
Maturity onset diabetes mellitus in young2Oct 22, 2019
Maturity-onset diabetes of the young type 44Oct 22, 2019
Maturity-onset diabetes of the young, type 23Oct 22, 2019
Maturity-onset diabetes of the young, type 39Oct 22, 2019
McCune-Albright syndrome2Oct 22, 2019
McKusick-Kaufman syndrome7Oct 22, 2019
Meconium ileus3Oct 22, 2019
Medium-chain acyl-coenzyme A dehydrogenase deficiency4Oct 22, 2019
Megalencephalic leukoencephalopathy with subcortical cysts 12Oct 22, 2019
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11Oct 22, 2019
Meier-Gorlin syndrome 21Oct 22, 2019
Meier-Gorlin syndrome 42Oct 22, 2019
Meier-Gorlin syndrome 51Oct 22, 2019
Melanoma-pancreatic cancer syndrome36Oct 22, 2019
Menkes kinky-hair syndrome9Oct 22, 2019
Mental retardation 46, X-linked2Oct 22, 2019
Mental retardation 58, X-linked1Oct 22, 2019
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1Oct 22, 2019
Mental retardation and microcephaly with pontine and cerebellar hypoplasia9May 9, 2020
Mental retardation with language impairment and with or without autistic features6Oct 22, 2019
Mental retardation with panhypopituitarism, X-linked1Oct 22, 2019
Mental retardation, X-linked 13Oct 22, 2019
Mental retardation, X-linked 1001Oct 22, 2019
Mental retardation, X-linked 1024Oct 22, 2019
Mental retardation, X-linked 933Jul 18, 2020
Mental retardation, X-linked 982Oct 22, 2019
Mental retardation, X-linked, syndromic, Bain type1Oct 22, 2019
Mental retardation, X-linked, syndromic, wu type3Oct 22, 2019
Mental retardation, autosomal dominant 15Oct 22, 2019
Mental retardation, autosomal dominant 131Jan 5, 2015
Mental retardation, autosomal dominant 143Oct 22, 2019
Mental retardation, autosomal dominant 183Oct 22, 2019
Mental retardation, autosomal dominant 213Oct 22, 2019
Mental retardation, autosomal dominant 221Oct 22, 2019
Mental retardation, autosomal dominant 232Oct 22, 2019
Mental retardation, autosomal dominant 244Oct 22, 2019
Mental retardation, autosomal dominant 263Oct 22, 2019
Mental retardation, autosomal dominant 271Oct 22, 2019
Mental retardation, autosomal dominant 33Oct 22, 2019
Mental retardation, autosomal dominant 312Oct 22, 2019
Mental retardation, autosomal dominant 323Oct 22, 2019
Mental retardation, autosomal dominant 333Oct 22, 2019
Mental retardation, autosomal dominant 341Oct 29, 2019
Mental retardation, autosomal dominant 352Oct 22, 2019
Mental retardation, autosomal dominant 362Oct 22, 2019
Mental retardation, autosomal dominant 391Oct 22, 2019
Mental retardation, autosomal dominant 56Oct 22, 2019
Mental retardation, autosomal dominant 68Oct 22, 2019
Mental retardation, autosomal recessive 151Oct 22, 2019
Mental retardation, autosomal recessive 181Oct 22, 2019
Mental retardation, autosomal recessive 374Oct 22, 2019
Mental retardation, autosomal recessive 382Oct 22, 2019
Mental retardation, autosomal recessive 412Oct 22, 2019
Mental retardation, autosomal recessive 424Oct 22, 2019
Mental retardation, autosomal recessive 71Oct 22, 2019
Mental retardation, syndromic 14, X-linked1Oct 22, 2019
Mental retardation, syndromic, Claes-Jensen type, X-linked1Oct 22, 2019
Merosin deficient congenital muscular dystrophy20Oct 22, 2019
Metachondromatosis7Oct 22, 2019
Metachromatic leukodystrophy5Oct 22, 2019
Metaphyseal anadysplasia 22Oct 22, 2019
Metaphyseal chondrodysplasia, Schmid type4Oct 22, 2019
Metaphyseal chondrodysplasia, Spahr type1Oct 22, 2019
Methylcobalamin deficiency type cblG4Oct 22, 2019
Methylmalonic acidemia with homocystinuria cblD1Oct 22, 2019
Methylmalonic acidemia with homocystinuria, type cblJ2Oct 22, 2019
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency7Oct 22, 2019
Methylmalonic aciduria due to transcobalamin receptor defect1Oct 22, 2019
Microcephaly 16, primary, autosomal recessive1Oct 22, 2019
Microcephaly and chorioretinopathy, autosomal recessive, 11Oct 22, 2019
Microcephaly and chorioretinopathy, autosomal recessive, 32Oct 22, 2019
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation1Oct 22, 2019
Microcephaly, normal intelligence and immunodeficiency50Oct 22, 2019
Microcornea, myopic chorioretinal atrophy, and telecanthus1Oct 22, 2019
Microphthalmia with brain and digit anomalies2Oct 22, 2019
Microphthalmia, isolated 61Oct 22, 2019
Mirror movements 12Oct 22, 2019
Mirror movements 22Oct 22, 2019
Mitochondrial DNA depletion syndrome 1 (MNGIE type)1Oct 22, 2019
Mitochondrial DNA depletion syndrome 111Oct 22, 2019
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)4Oct 22, 2019
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)2Oct 22, 2019
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)3Mar 9, 2020
Mitochondrial DNA-depletion syndrome 3, hepatocerebral3Oct 22, 2019
Mitochondrial complex 1 deficiency, nuclear type 121Oct 22, 2019
Mitochondrial complex 1 deficiency, nuclear type 161Oct 22, 2019
Mitochondrial complex 1 deficiency, nuclear type 171Oct 22, 2019
Mitochondrial complex 1 deficiency, nuclear type 231Oct 22, 2019
Mitochondrial complex 1 deficiency, nuclear type 242Oct 22, 2019
Mitochondrial complex 1 deficiency, nuclear type 262Oct 22, 2019
Mitochondrial complex 1 deficiency, nuclear type 61Oct 22, 2019
Mitochondrial complex 1 deficiency, nuclear type 91Oct 22, 2019
Mitochondrial complex II deficiency7Oct 22, 2019
Mitochondrial complex IV deficiency5Oct 22, 2019
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency10Oct 22, 2019
Mitochondrial trifunctional protein deficiency4Oct 22, 2019
Moderate global developmental delay1Oct 27, 2018
Molybdenum cofactor deficiency, complementation group A3Oct 22, 2019
Mosaic variegated aneuploidy syndrome 16Oct 22, 2019
Mosaic variegated aneuploidy syndrome 21Oct 22, 2019
Mowat-Wilson syndrome8Oct 22, 2019
Moyamoya disease 22Oct 22, 2019
Mucolipidosis type II2Oct 22, 2019
Mucopolysaccharidosis type 61Oct 22, 2019
Mucopolysaccharidosis type 73Oct 22, 2019
Mucopolysaccharidosis, MPS-II3Oct 22, 2019
Mucopolysaccharidosis, MPS-III-B6Oct 22, 2019
Mucopolysaccharidosis, MPS-III-C3Oct 22, 2019
Mucopolysaccharidosis, MPS-IV-A5Oct 22, 2019
Mucopolysaccharidosis, MPS-IV-B1May 31, 2016
Multicentric carpo-tarsal osteolysis with or without nephropathy1Oct 22, 2019
Multiple acyl-CoA dehydrogenase deficiency10Oct 22, 2019
Multiple congenital anomalies-hypotonia-seizures syndrome 13Oct 22, 2019
Multiple congenital anomalies-hypotonia-seizures syndrome 23Oct 22, 2019
Multiple congenital anomalies-hypotonia-seizures syndrome 34Oct 22, 2019
Multiple endocrine neoplasia, type 123Oct 22, 2019
Multiple endocrine neoplasia, type 2a70Oct 22, 2019
Multiple endocrine neoplasia, type 41Oct 22, 2019
Multiple epiphyseal dysplasia 62Oct 22, 2019
Multiple epiphyseal dysplasia type 41Oct 22, 2019
Multiple epiphyseal dysplasia type 51Oct 22, 2019
Multiple exostoses type 13Oct 22, 2019
Multiple exostoses type 23Oct 22, 2019
Multiple fibrofolliculomas6Oct 22, 2019
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects1Oct 22, 2019
Muscle eye brain disease4Oct 22, 2019
Muscle hypertrophy1Oct 22, 2019
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency1Oct 22, 2019
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 112Oct 22, 2019
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 81Oct 22, 2019
Myasthenic syndrome, congenital, 181Oct 22, 2019
Myasthenic syndrome, congenital, 2a, slow-channel1Oct 22, 2019
Myasthenic syndrome, congenital, 4a, slow-channel1Oct 22, 2019
Myasthenic syndrome, congenital, 82Oct 22, 2019
Mycobacterial and viral infections, susceptibility to, autosomal recessive3Oct 22, 2019
Myeloperoxidase deficiency2Oct 22, 2019
Myoclonic dystonia2Oct 22, 2019
Myoclonic-atonic epilepsy5Oct 22, 2019
Myofibrillar myopathy 14Oct 22, 2019
Myofibrillar myopathy 31Oct 22, 2019
Myofibrillar myopathy, BAG3-related5Oct 22, 2019
Myofibrillar myopathy, ZASP-related3Oct 22, 2019
Myofibrillar myopathy, filamin C-related3Oct 22, 2019
Myopathy, centronuclear, 12Oct 22, 2019
Myopathy, congenital, compton-north1Oct 22, 2019
Myopathy, proximal, and ophthalmoplegia5Oct 22, 2019
N-terminal acetyltransferase deficiency2Oct 22, 2019
Nail disorder, nonsyndromic congenital, 11Oct 22, 2019
Nail-patella syndrome1Oct 22, 2019
Nance-Horan syndrome1Oct 22, 2019
Natural killer cell and glucocorticoid deficiency with DNA repair defect1Oct 22, 2019
Navajo neurohepatopathy1Oct 22, 2019
Nemaline myopathy 12Oct 22, 2019
Nemaline myopathy 213Oct 22, 2019
Nemaline myopathy 62Oct 22, 2019
Nemaline myopathy 91Oct 22, 2019
Nephrogenic diabetes insipidus, X-linked5Oct 22, 2019
Nephrolithiasis/osteoporosis, hypophosphatemic, 21Oct 22, 2019
Nephronophthisis 46Oct 22, 2019
Nephropathic cystinosis3Oct 22, 2019
Nephrotic syndrome, type 31Oct 22, 2019
Netherton syndrome2Oct 22, 2019
Neural tube defect2Oct 22, 2019
Neural tube defects, folate-sensitive3Oct 22, 2019
Neuroblastoma3Oct 22, 2019
Neuroblastoma 32Oct 22, 2019
Neurodegeneration with brain iron accumulation 41Oct 22, 2019
Neurodegeneration with brain iron accumulation 54Oct 22, 2019
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures2Oct 22, 2019
Neurodevelopmental disorder with hypotonia, seizures, and absent language2Oct 22, 2019
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant1Oct 22, 2019
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA1Oct 22, 2019
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures2Oct 22, 2019
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements3Oct 22, 2019
Neurodevelopmental disorder with severe motor impairment and absent language2Oct 22, 2019
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies1Oct 29, 2019
Neurofibromatosis, type 1108Jan 26, 2020
Neurofibromatosis, type 236Oct 22, 2019
Neuronal ceroid lipofuscinosis23Oct 22, 2019
Neuronal ceroid lipofuscinosis 52Jun 21, 2015
Neuronal ceroid lipofuscinosis 61Jun 21, 2015
Neuronal ceroid lipofuscinosis 75Nov 8, 2020
Neuronal ceroid lipofuscinosis 81Nov 15, 2015
Neuropathy, hereditary motor and sensory, Russe type1Oct 22, 2019
Neuropathy, hereditary motor and sensory, type 6B1Oct 22, 2019
Neuropathy, hereditary sensory and autonomic, type 1A2Oct 22, 2019
Neutral lipid storage myopathy1Oct 22, 2019
Neutropenia, severe congenital 1, autosomal dominant1Sep 1, 2015
Neutrophil immunodeficiency syndrome3Oct 22, 2019
Nicolaides-Baraitser syndrome4Oct 22, 2019
Niemann-Pick disease type C110Oct 22, 2019
Niemann-Pick disease, type A1Oct 22, 2019
Nijmegen breakage syndrome-like disorder5Oct 22, 2019
Non-Hodgkin lymphoma4Oct 22, 2019
Non-ketotic hyperglycinemia9Oct 22, 2019
Noonan syndrome 15Oct 22, 2019
Noonan syndrome 31Oct 22, 2019
Noonan syndrome 91Oct 22, 2019
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1Oct 22, 2019
Norman-Roberts syndrome1Oct 22, 2019
Obesity2Oct 22, 2019
Occult macular dystrophy7Oct 22, 2019
Ocular albinism, type I1Oct 22, 2019
Oculocutaneous albinism type 31Oct 22, 2019
Oculodentodigital dysplasia1Oct 22, 2019
Oculopharyngeal muscular dystrophy3Oct 22, 2019
Oculotrichoanal syndrome2Oct 22, 2019
Odonto-onycho-dermal dysplasia3Oct 22, 2019
Oguchi's disease1Oct 22, 2019
Okur-chung neurodevelopmental syndrome2Oct 22, 2019
Oligodontia-colorectal cancer syndrome5Oct 22, 2019
Opsismodysplasia1Oct 22, 2019
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1Jun 21, 2015
Ornithine carbamoyltransferase deficiency11Oct 22, 2019
Orofaciodigital syndrome I1Oct 22, 2019
Orofaciodigital syndrome V1Oct 22, 2019
Orofaciodigital syndrome xiv1Oct 22, 2019
Osteochondritis dissecans4Oct 22, 2019
Osteocraniostenosis1Oct 22, 2019
Osteogenesis imperfecta type 52Oct 22, 2019
Osteogenesis imperfecta type I13Oct 22, 2019
Osteogenesis imperfecta, type XI2Oct 22, 2019
Osteogenesis imperfecta, type xv1Jan 5, 2015
Osteoglophonic dysplasia1Oct 22, 2019
Osteopathia striata with cranial sclerosis3Oct 22, 2019
Osteopetrosis with renal tubular acidosis1Oct 22, 2019
Osteopetrosis, autosomal recessive 51Oct 22, 2019
Osteoporosis with pseudoglioma3Oct 22, 2019
Otitis media, susceptibility to2Oct 22, 2019
Otofaciocervical syndrome 12Oct 22, 2019
Otospondylomegaepiphyseal dysplasia, autosomal recessive4Oct 22, 2019
Ovarian dysgenesis 22Oct 22, 2019
Ovarian dysgenesis 31Oct 29, 2019
PERCHING syndrome3Oct 22, 2019
PTEN hamartoma tumor syndrome47Oct 22, 2019
Pachyonychia congenita 41Oct 22, 2019
Paget disease of bone 61Oct 22, 2019
Palmoplantar carcinoma, multiple self-healing1Oct 22, 2019
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques1Oct 22, 2019
Paragangliomas 41Aug 21, 2020
Parathyroid carcinoma2Oct 22, 2019
Parietal foramina 12Oct 22, 2019
Parkinson disease 21Oct 22, 2019
Parkinson disease 211Oct 22, 2019
Parkinson disease 8, autosomal dominant12Oct 22, 2019
Peeling skin syndrome 14Oct 22, 2019
Peeling skin syndrome 31Oct 22, 2019
Pelizaeus-Merzbacher disease2Oct 22, 2019
Pena-Shokeir syndrome type I6Oct 22, 2019
Pendred syndrome3Oct 22, 2019
Periventricular nodular heterotopia 11Oct 22, 2019
Permanent neonatal diabetes mellitus2Oct 22, 2019
Peroxisomal acyl-CoA oxidase deficiency1Oct 22, 2019
Peroxisome biogenesis disorder 1A (Zellweger)6Oct 22, 2019
Peroxisome biogenesis disorder 4a (zellweger)3Oct 22, 2019
Persistent Mullerian duct syndrome1Oct 22, 2019
Pervasive developmental disorder1Oct 27, 2018
Peutz-Jeghers syndrome50Oct 22, 2019
Phenylketonuria11Oct 22, 2019
Pheochromocytoma3Oct 22, 2019
Phosphoenolpyruvate carboxykinase deficiency, cytosolic1Oct 22, 2019
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1Oct 22, 2019
Phosphoglycerate dehydrogenase deficiency1Oct 22, 2019
Phosphoglycerate kinase 1 deficiency1Oct 22, 2019
Phosphoribosylpyrophosphate synthetase superactivity1Oct 22, 2019
Phosphoserine aminotransferase deficiency1Oct 22, 2019
Phytanic acid storage disease1Oct 22, 2019
Pierpont syndrome4Oct 22, 2019
Pigmentary pallidal degeneration5Oct 22, 2019
Pigmentary retinal dystrophy1Oct 22, 2019
Pigmented nodular adrenocortical disease, primary, 21Oct 22, 2019
Pitt-Hopkins syndrome8Oct 22, 2019
Pitt-Hopkins-like syndrome 13Oct 22, 2019
Pitt-Hopkins-like syndrome 21Oct 22, 2019
Pituitary adenoma, growth hormone-secreting, 21Oct 22, 2019
Pityriasis rubra pilaris1Oct 22, 2019
Plasminogen deficiency, type I1Oct 22, 2019
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease2Oct 22, 2019
Platelet-type bleeding disorder 13, susceptibility to1Oct 22, 2019
Platelet-type bleeding disorder 91Oct 22, 2019
Polyarteritis nodosa, childhoood-onset2Oct 22, 2019
Polycystic kidney disease 23Oct 22, 2019
Polycystic kidney disease, adult type29Oct 22, 2019
Polycystic liver disease 11Oct 22, 2019
Polyglandular autoimmune syndrome, type 13Oct 22, 2019
Polymicrogyria, asymmetric2Oct 22, 2019
Pontocerebellar hypoplasia type 2C1Oct 22, 2019
Pontocerebellar hypoplasia type 44Oct 22, 2019
Pontocerebellar hypoplasia type 64Oct 22, 2019
Pontocerebellar hypoplasia, type 111Oct 22, 2019
Pontocerebellar hypoplasia, type 1c1Oct 22, 2019
Pontocerebellar hypoplasia, type 1d1Oct 22, 2019
Porencephaly 23Oct 22, 2019
Poretti-Boltshauser syndrome3Oct 22, 2019
Posterior column ataxia-retinitis pigmentosa syndrome3Oct 22, 2019
Posterior polymorphous corneal dystrophy 11Oct 22, 2019
Premature ovarian failure 11Oct 22, 2019
Preterm premature rupture of membranes1Oct 22, 2019
Primary autosomal recessive microcephaly 41Oct 22, 2019
Primary autosomal recessive microcephaly 73Oct 22, 2019
Primary hyperoxaluria, type I6Oct 22, 2019
Primary hypomagnesemia1Oct 22, 2019
Primary localized cutaneous amyloidosis 11Oct 22, 2019
Primary open angle glaucoma5Oct 22, 2019
Progressive familial heart block, type 1A2Oct 22, 2019
Progressive familial intrahepatic cholestasis 22Oct 22, 2019
Progressive familial intrahepatic cholestasis 31Nov 15, 2015
Progressive myoclonic epilepsy, X-linked3Oct 22, 2019
Progressive myoclonus epilepsy with ataxia1Jan 5, 2015
Progressive sclerosing poliodystrophy12Oct 22, 2019
Proopiomelanocortin deficiency2Oct 22, 2019
Propionic acidemia13Oct 22, 2019
Proprotein convertase 1/3 deficiency1Oct 22, 2019
Protoporphyria, erythropoietic, 16Oct 22, 2019
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome4Oct 22, 2019
Pseudohypoaldosteronism type 2D1Nov 15, 2015
Pseudoxanthoma elasticum6Oct 22, 2019
Pustular psoriasis, generalized1Oct 22, 2019
Pyknodysostosis1Oct 22, 2019
Pyridoxine-dependent epilepsy3Oct 22, 2019
Pyruvate carboxylase deficiency2Oct 22, 2019
Pyruvate dehydrogenase E1-alpha deficiency4Oct 22, 2019
Pyruvate kinase deficiency of red cells1Oct 22, 2019
Rahman syndrome2Oct 29, 2019
Rare genetic deafness2Oct 29, 2019
Recessive dystrophic epidermolysis bullosa2Oct 22, 2019
Renal carnitine transport defect3Oct 22, 2019
Renal cell carcinoma, papillary, 180Oct 22, 2019
Renal hypodysplasia/aplasia 21Oct 22, 2019
Renal tubular acidosis with progressive nerve deafness2Oct 22, 2019
Renal tubular acidosis, distal, autosomal recessive5Oct 22, 2019
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation2Oct 22, 2019
Renal-hepatic-pancreatic dysplasia 13Oct 22, 2019
Renpenning syndrome 11Oct 22, 2019
Retinitis pigmentosa55Oct 22, 2019
Retinitis pigmentosa 132Oct 22, 2019
Retinitis pigmentosa 155Oct 22, 2019
Retinitis pigmentosa 181Oct 22, 2019
Retinitis pigmentosa 2522Oct 22, 2019
Retinitis pigmentosa 264Oct 22, 2019
Retinitis pigmentosa 386Oct 22, 2019
Retinitis pigmentosa 47Oct 22, 2019
Retinitis pigmentosa 418Oct 22, 2019
Retinitis pigmentosa 542Oct 22, 2019
Retinitis pigmentosa 601Oct 22, 2019
Retinitis pigmentosa 92Oct 22, 2019
Retinitis pigmentosa-deafness syndrome18Oct 22, 2019
Retinoblastoma53Oct 22, 2019
Rett syndrome24Oct 22, 2019
Rett syndrome, congenital variant3Oct 22, 2019
Rhabdoid tumor predisposition syndrome 27Oct 22, 2019
Rhizomelic chondrodysplasia punctata type 11Oct 22, 2019
Rhizomelic chondrodysplasia punctata type 21Oct 22, 2019
Rigidity and multifocal seizure syndrome, lethal neonatal1Jun 21, 2015
Ritscher-Schinzel syndrome 11Oct 22, 2019
Robinow syndrome, autosomal dominant 11Oct 22, 2019
Robinow syndrome, autosomal dominant 22Oct 22, 2019
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked2Oct 22, 2019
Rotor syndrome1Oct 22, 2019
Rubinstein-Taybi syndrome 118Oct 22, 2019
Rubinstein-Taybi syndrome 21Sep 1, 2015
SHORT syndrome1Oct 22, 2019
SLC35A2-CDG3Oct 22, 2019
Saldino-Mainzer syndrome2Oct 22, 2019
Salt and pepper developmental regression syndrome1Oct 22, 2019
Sandhoff disease2Oct 22, 2019
Sarcotubular myopathy2Oct 22, 2019
Schaaf-Yang syndrome1Oct 22, 2019
Schinzel-Giedion syndrome5Oct 22, 2019
Schwartz-Jampel syndrome5Oct 22, 2019
Seckel syndrome 15Oct 22, 2019
Seckel syndrome 73Oct 22, 2019
Seizures, benign familial infantile, 319Oct 22, 2019
Senior-Loken syndrome 54Oct 22, 2019
Septo-optic dysplasia sequence2Oct 22, 2019
Severe X-linked myotubular myopathy3Oct 22, 2019
Severe autosomal recessive muscular dystrophy of childhood - North African type1Oct 22, 2019
Severe combined immunodeficiency due to ADA deficiency2Oct 22, 2019
Severe combined immunodeficiency due to DCLRE1C deficiency4Oct 22, 2019
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative4Oct 22, 2019
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive2Oct 22, 2019
Severe congenital neutropenia 2, autosomal dominant4Oct 22, 2019
Severe myoclonic epilepsy in infancy64Nov 8, 2020
Shashi-Pena syndrome1Oct 22, 2019
Short stature1Oct 29, 2019
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies1Oct 22, 2019
Short stature, idiopathic, X-linked2Oct 22, 2019
Short stature-pituitary and cerebellar defects-small sella turcica syndrome4Oct 22, 2019
Short-rib thoracic dysplasia 11 with or without polydactyly1Oct 22, 2019
Short-rib thoracic dysplasia 3 with or without polydactyly5Oct 22, 2019
Short-rib thoracic dysplasia 8 with or without polydactyly1Oct 22, 2019
Shprintzen-Goldberg syndrome1Oct 22, 2019
Shwachman-Diamond syndrome 12Oct 22, 2019
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay1Oct 22, 2019
Sifrim-Hitz-Weiss syndrome1Oct 22, 2019
Singleton-Merten syndrome 15Oct 22, 2019
Singleton-Merten syndrome 21Oct 22, 2019
Sinoatrial node dysfunction and deafness4Oct 22, 2019
Sitosterolemia3Oct 22, 2019
Sjögren-Larsson syndrome2Oct 22, 2019
Skraban-Deardorff syndrome2Oct 22, 2019
Smith-Magenis syndrome4Oct 22, 2019
Snijders blok-campeau syndrome1Oct 22, 2019
Somatotroph adenoma2Oct 22, 2019
Sotos syndrome 113Oct 22, 2019
Spastic paraplegia 11, autosomal recessive11Oct 22, 2019
Spastic paraplegia 30, autosomal recessive7Oct 22, 2019
Spastic paraplegia 31, autosomal dominant2Oct 22, 2019
Spastic paraplegia 33, autosomal dominant1Oct 22, 2019
Spastic paraplegia 353Oct 22, 2019
Spastic paraplegia 4, autosomal dominant12Oct 22, 2019
Spastic paraplegia 47, autosomal recessive1Oct 22, 2019
Spastic paraplegia 48, autosomal recessive1Oct 22, 2019
Spastic paraplegia 51, autosomal recessive1Oct 22, 2019
Spastic paraplegia 56, autosomal recessive1Jun 21, 2015
Spastic paraplegia 64, autosomal recessive2Oct 22, 2019
Spastic paraplegia 76, autosomal recessive2Oct 22, 2019
Spastic paraplegia and psychomotor retardation with or without seizures1Oct 22, 2019
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly1Oct 22, 2019
Speech-language disorder 11Oct 22, 2019
Spherocytosis type 13Oct 22, 2019
Spherocytosis type 44Oct 22, 2019
Spinal muscular atrophy with congenital bone fractures 11Oct 22, 2019
Spinal muscular atrophy with congenital bone fractures 22Oct 22, 2019
Spinal muscular atrophy, distal, autosomal recessive, 12Oct 22, 2019
Spinal muscular atrophy, distal, autosomal recessive, 51Nov 15, 2015
Spinal muscular atrophy, jokela type3Oct 22, 2019
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant1Jan 5, 2015
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant3Oct 22, 2019
Spinocerebellar ataxia 353Oct 22, 2019
Spinocerebellar ataxia 464Oct 22, 2019
Spinocerebellar ataxia type 111Oct 22, 2019
Spinocerebellar ataxia type 132Oct 22, 2019
Spinocerebellar ataxia type 143Oct 22, 2019
Spinocerebellar ataxia type 21Oct 22, 2019
Spinocerebellar ataxia type 233Oct 22, 2019
Spinocerebellar ataxia type 293Oct 22, 2019
Spinocerebellar ataxia type 51Oct 22, 2019
Spinocerebellar ataxia, autosomal recessive 111Oct 22, 2019
Spinocerebellar ataxia, autosomal recessive 131Oct 22, 2019
Spinocerebellar ataxia, autosomal recessive 161Oct 22, 2019
Spinocerebellar ataxia, autosomal recessive 201Oct 22, 2019
Spinocerebellar ataxia, autosomal recessive 86Oct 22, 2019
Sponastrime dysplasia2Oct 22, 2019
Spondylocheirodysplasia, Ehlers-Danlos syndrome-like1Oct 22, 2019
Spondyloenchondrodysplasia with immune dysregulation1Oct 22, 2019
Spondyloepimetaphyseal dysplasia with joint laxity, type 22Oct 22, 2019
Spondylometaphyseal dysplasia1Oct 22, 2019
Spondyloocular syndrome, autosomal recessive1Oct 22, 2019
Squamous cell carcinoma of the head and neck39Oct 22, 2019
Stankiewicz-Isidor syndrome1Oct 22, 2019
Stargardt disease 149Feb 12, 2020
Stickler syndrome type 112Oct 22, 2019
Sting-associated vasculopathy, infantile-onset1Oct 29, 2019
Striatal degeneration, autosomal dominant 11Oct 22, 2019
Structural heart defects and renal anomalies syndrome1Oct 22, 2019
Succinate-semialdehyde dehydrogenase deficiency1Oct 22, 2019
Succinyl-CoA acetoacetate transferase deficiency2Oct 22, 2019
Sucrase-isomaltase deficiency2Oct 22, 2019
Supravalvar aortic stenosis1Oct 22, 2019
Surfactant metabolism dysfunction, pulmonary, 32Oct 22, 2019
Sveinsson chorioretinal atrophy1Oct 22, 2019
Symmetrical dyschromatosis of extremities4Oct 22, 2019
Syndromic X-linked intellectual disability Siderius type1Oct 22, 2019
Syndromic X-linked intellectual disability Turner type1Oct 22, 2019
Syndromic X-linked mental retardation, Cabezas type1Oct 22, 2019
Syndromic mental retardation, Nascimento type, X-linked1Oct 22, 2019
Syndromic microphthalmia type 52Oct 22, 2019
TNF receptor-associated periodic fever syndrome (TRAPS)3Oct 22, 2019
Tangier disease1Oct 22, 2019
Tatton-Brown-rahman syndrome1Oct 22, 2019
Tay-Sachs disease3Oct 22, 2019
Telangiectasia, hereditary hemorrhagic, type 22Oct 22, 2019
Temtamy syndrome1Oct 22, 2019
Three M syndrome 11Oct 22, 2019
Three M syndrome 22Oct 22, 2019
Thrombocytopenia 21Oct 22, 2019
Thrombophilia due to protein S deficiency, autosomal dominant4Oct 22, 2019
Thrombophilia due to thrombin defect1Oct 22, 2019
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant2Oct 22, 2019
Thyroglobulin synthesis defect1Oct 22, 2019
Thyroid dyshormonogenesis 11Oct 22, 2019
Thyroid dyshormonogenesis 63Oct 22, 2019
Thyroid hormone resistance, generalized, autosomal dominant1Oct 22, 2019
Tietz syndrome1Oct 22, 2019
Timothy syndrome7Oct 22, 2019
Townes-Brocks syndrome 13Oct 22, 2019
Transcolabamin II deficiency3Oct 22, 2019
Treacher Collins syndrome 15Oct 22, 2019
Trichorhinophalangeal dysplasia type I1Oct 22, 2019
Trimethylaminuria1Oct 22, 2019
Tuberous sclerosis 115Oct 22, 2019
Tuberous sclerosis 237Oct 22, 2019
Tumor susceptibility linked to germline BAP1 mutations17Oct 22, 2019
Type 2 diabetes mellitus7Oct 22, 2019
Tyrosinase-negative oculocutaneous albinism4Oct 22, 2019
Tyrosinase-positive oculocutaneous albinism4Oct 22, 2019
Tyrosinemia type I5Oct 22, 2019
UDPglucose-4-epimerase deficiency2Oct 22, 2019
UV-sensitive syndrome 31Oct 22, 2019
Ullrich congenital muscular dystrophy 21Oct 22, 2019
Upshaw-Schulman syndrome5Oct 22, 2019
Urofacial syndrome 11Oct 22, 2019
Usher Syndrome, Type III1Oct 22, 2019
Usher syndrome type 12Apr 25, 2020
Usher syndrome type 1F6Oct 22, 2019
Usher syndrome, type 1C1Oct 22, 2019
Usher syndrome, type 2A46Oct 22, 2019
Usher syndrome, type 2C14Oct 22, 2019
Van Maldergem syndrome 23Oct 22, 2019
Van den Ende-Gupta syndrome1Oct 22, 2019
Van der Woude syndrome1Nov 15, 2015
Variegate porphyria1Oct 22, 2019
Ventricular tachycardia, catecholaminergic polymorphic, 21Oct 22, 2019
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness1Oct 22, 2019
Verheij syndrome1Oct 22, 2019
Ververi-Brady syndrome3Oct 22, 2019
Very long chain acyl-CoA dehydrogenase deficiency6Oct 22, 2019
Vesicoureteral reflux 21Oct 22, 2019
Vesicoureteral reflux 31Oct 22, 2019
Vici syndrome4Oct 22, 2019
Visceral myopathy1Oct 22, 2019
Vitamin B12-responsive methylmalonic acidemia type cblB2Oct 22, 2019
Vitamin D-dependent rickets, type 11Oct 22, 2019
Vitamin D-dependent rickets, type 21Oct 22, 2019
Vitelliform macular dystrophy type 23Oct 22, 2019
Von Hippel-Lindau syndrome8Oct 22, 2019
Von Willebrand disease, recessive form1Oct 22, 2019
Waardenburg syndrome type 12Oct 22, 2019
Waardenburg syndrome type 4A1Oct 22, 2019
Waardenburg syndrome type 4B2Oct 22, 2019
Wagner syndrome1Oct 22, 2019
Warsaw breakage syndrome3Oct 22, 2019
Webb-Dattani syndrome2Oct 29, 2019
Weill-Marchesani syndrome 12Oct 22, 2019
Weill-Marchesani syndrome 31Oct 22, 2019
Weiss-kruszka syndrome2Oct 29, 2019
Welander distal myopathy1Oct 22, 2019
Werner syndrome7Oct 22, 2019
White-sutton syndrome4Oct 22, 2019
Wiedemann-Steiner syndrome14Oct 22, 2019
Wilms tumor 121Oct 22, 2019
Wilson disease16Oct 22, 2019
Winchester syndrome2Oct 22, 2019
Wiskott-Aldrich syndrome 21Oct 22, 2019
Witteveen-kolk syndrome1Oct 22, 2019
Wolcott-Rallison dysplasia3Oct 22, 2019
X-linked agammaglobulinemia7Oct 22, 2019
X-linked hydrocephalus syndrome6Oct 22, 2019
X-linked severe combined immunodeficiency3Oct 22, 2019
X-linked severe congenital neutropenia5Oct 22, 2019
Xanthinuria type II2Oct 22, 2019
Xeroderma pigmentosum variant type1Oct 22, 2019
Xeroderma pigmentosum, complementation group b8Oct 22, 2019
Xeroderma pigmentosum, group C3Oct 22, 2019
Xeroderma pigmentosum, group D6Oct 22, 2019
Xeroderma pigmentosum, group F7Oct 22, 2019
Xeroderma pigmentosum, group G5Oct 22, 2019
Xia-Gibbs syndrome4Oct 22, 2019
ZTTK syndrome1Oct 22, 2019
Zimmermann-Laband syndrome 21Oct 22, 2019
Zimmermann-Laband syndrome with epileptic encephalopathy1Jun 16, 2019
beta Thalassemia11Oct 22, 2019
intellectual deficiency2Jan 29, 2019
not provided79Oct 29, 2019

Testing in GTR

Disease nameNumber of tests
COVID-191 test
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