PreventionGenetics (PreventionGenetics)
General information
PreventionGenetics
PreventionGenetics
3800 S Business Park Ave
Marshfield
Wisconsin
United States - 54449
https://www.preventiongenetics.com/
Organization ID: 239772
PreventionGenetics
3800 S Business Park Ave
Marshfield
Wisconsin
United States - 54449
https://www.preventiongenetics.com/
Organization ID: 239772
Personnel
- Julie Rath, Informatics staff
Phone: 7153870484x263
Email: julie.rath@preventiongenetics.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 18417
Gene
Gene | Submissions | Last Updated |
---|---|---|
ABCA12 | 15 | Apr 28, 2016 |
ABCA4 | 42 | Apr 28, 2016 |
ABCB11 | 21 | Apr 28, 2016 |
ABCB4 | 16 | Apr 28, 2016 |
ABCC2 | 3 | Apr 28, 2016 |
ABCC8 | 32 | Apr 28, 2016 |
ABCC9 | 13 | Apr 28, 2016 |
ABCD1 | 4 | Apr 28, 2016 |
ABCD3 | 2 | Apr 28, 2016 |
ABCD4 | 4 | Apr 28, 2016 |
ABHD14A-ACY1 | 4 | Apr 28, 2016 |
ACADM | 12 | Apr 28, 2016 |
ACADS | 6 | Apr 28, 2016 |
ACADVL | 19 | Apr 28, 2016 |
ACBD5 | 3 | Apr 28, 2016 |
ACBD6 | 2 | Apr 28, 2016 |
ACE | 12 | Apr 28, 2016 |
ACO2 | 7 | Apr 28, 2016 |
ACOX1 | 4 | Apr 28, 2016 |
ACP5 | 3 | Apr 28, 2016 |
ACTA1 | 13 | Apr 28, 2016 |
ACTA2 | 3 | Apr 28, 2016 |
ACTC1 | 3 | Apr 28, 2016 |
ACTN2 | 5 | Apr 28, 2016 |
ACTN4 | 19 | Apr 28, 2016 |
ACVR1 | 3 | Apr 28, 2016 |
ACVR2B | 10 | Apr 28, 2016 |
ACVRL1 | 10 | Apr 28, 2016 |
ACY1 | 4 | Apr 28, 2016 |
ADA | 3 | Apr 28, 2016 |
ADAM9 | 3 | Apr 28, 2016 |
ADAMTS13 | 32 | Apr 28, 2016 |
ADAMTSL4 | 6 | Apr 28, 2016 |
ADAMTSL4-AS2 | 3 | Apr 28, 2016 |
ADAR | 5 | Apr 28, 2016 |
ADGRG1 | 16 | Apr 28, 2016 |
ADGRV1 | 37 | Apr 28, 2016 |
ADNP-AS1 | 1 | Apr 28, 2016 |
ADSL | 3 | Apr 28, 2016 |
AGA | 3 | Apr 28, 2016 |
AGL | 38 | Apr 28, 2016 |
AGPAT2 | 6 | Apr 28, 2016 |
AGPS | 3 | Apr 28, 2016 |
AGRN | 81 | Apr 28, 2016 |
AGT | 2 | Apr 28, 2016 |
AGTR1 | 2 | Apr 28, 2016 |
AGXT | 12 | Apr 28, 2016 |
AHI1 | 47 | Apr 28, 2016 |
AICDA | 2 | Apr 28, 2016 |
AIP | 3 | Apr 28, 2016 |
AIPL1 | 8 | Apr 28, 2016 |
AIRE | 10 | Apr 28, 2016 |
AKAP9 | 14 | Apr 28, 2016 |
AKR1D1 | 4 | Apr 28, 2016 |
ALAS2 | 1 | Apr 28, 2016 |
ALDH18A1 | 5 | Apr 28, 2016 |
ALDH1A3 | 3 | Apr 28, 2016 |
ALDH1A3-AS1 | 3 | Apr 28, 2016 |
ALDH7A1 | 6 | Apr 28, 2016 |
ALDOB | 4 | Apr 28, 2016 |
ALG12 | 8 | Apr 28, 2016 |
ALG2 | 3 | Apr 28, 2016 |
ALG3 | 2 | Apr 28, 2016 |
ALG6 | 2 | Apr 28, 2016 |
ALG8 | 9 | Apr 28, 2016 |
ALK | 15 | Apr 28, 2016 |
ALMS1 | 12 | Apr 28, 2016 |
ALOX12B | 1 | Apr 28, 2016 |
ALOXE3 | 4 | Apr 28, 2016 |
ALPL | 16 | Apr 28, 2016 |
ALS2 | 16 | Apr 28, 2016 |
ALX3 | 1 | Apr 28, 2016 |
AMELX | 1 | Apr 28, 2016 |
AMT | 2 | Apr 28, 2016 |
ANG | 1 | Apr 28, 2016 |
ANK1 | 34 | Apr 28, 2016 |
ANK2 | 13 | Apr 28, 2016 |
ANKIB1 | 2 | Oct 12, 2018 |
ANKRD1 | 1 | Apr 28, 2016 |
ANKRD26 | 21 | Apr 28, 2016 |
ANKS6 | 24 | Apr 28, 2016 |
ANLN | 4 | Apr 28, 2016 |
ANO10 | 2 | Apr 28, 2016 |
ANO5 | 21 | Apr 28, 2016 |
ANO6 | 10 | Apr 28, 2016 |
ANOS1 | 2 | Apr 28, 2016 |
ANTXR1 | 1 | Apr 28, 2016 |
AOPEP | 5 | Apr 28, 2016 |
AP2S1 | 1 | Apr 28, 2016 |
AP3B1 | 10 | Apr 28, 2016 |
APC | 135 | Jan 29, 2018 |
APOB | 35 | Apr 28, 2016 |
APRT | 1 | Apr 28, 2016 |
APTX | 2 | Apr 28, 2016 |
AQP2 | 4 | Apr 28, 2016 |
AR | 3 | Apr 28, 2016 |
ARFGEF2 | 8 | Apr 28, 2016 |
ARG1 | 1 | Apr 28, 2016 |
ARHGAP6 | 1 | Apr 28, 2016 |
ARHGEF28 | 24 | Apr 28, 2016 |
ARL13B | 6 | Apr 28, 2016 |
ARL14EP-DT | 1 | Apr 28, 2016 |
ARL6 | 4 | Apr 28, 2016 |
ARSA | 11 | Apr 28, 2016 |
ARSB | 8 | Apr 28, 2016 |
ARSL | 8 | Apr 28, 2016 |
ARVCF | 1 | Apr 28, 2016 |
ARX | 2 | Apr 28, 2016 |
ASAH1 | 11 | Apr 28, 2016 |
ASCL1 | 7 | Apr 28, 2016 |
ASL | 3 | Apr 28, 2016 |
ASPA | 2 | Apr 28, 2016 |
ASPM | 19 | Apr 28, 2016 |
ASS1 | 14 | Apr 28, 2016 |
ASTN2 | 4 | Apr 28, 2016 |
ATM | 164 | Jan 29, 2018 |
ATP13A2 | 15 | Apr 28, 2016 |
ATP1A2 | 8 | Apr 28, 2016 |
ATP6V0A2 | 7 | Apr 28, 2016 |
ATP6V0A4 | 7 | Apr 28, 2016 |
ATP6V1B1 | 3 | Apr 28, 2016 |
ATP6V1B1-AS1 | 1 | Apr 28, 2016 |
ATP7A | 6 | Apr 28, 2016 |
ATP7B | 36 | Apr 28, 2016 |
ATP8B1 | 15 | Apr 28, 2016 |
ATP8B1-AS1 | 8 | Apr 28, 2016 |
ATRIP | 2 | Apr 28, 2016 |
ATRIP-TREX1 | 2 | Apr 28, 2016 |
ATRX | 2 | Apr 28, 2016 |
AUH | 4 | Apr 28, 2016 |
AVPR2 | 6 | Apr 28, 2016 |
AXDND1 | 3 | Apr 28, 2016 |
AXIN2 | 9 | Apr 28, 2016 |
B3GALNT2 | 4 | Apr 28, 2016 |
B3GLCT | 6 | Apr 28, 2016 |
B3GNT4 | 1 | Apr 28, 2016 |
B4GAT1 | 2 | Apr 28, 2016 |
B9D1 | 6 | Apr 28, 2016 |
B9D2 | 6 | Apr 28, 2016 |
BAAT | 4 | Apr 28, 2016 |
BAG3 | 15 | Apr 28, 2016 |
BAP1 | 8 | Apr 28, 2016 |
BARD1 | 40 | Jan 29, 2018 |
BBS1 | 13 | Apr 28, 2016 |
BBS10 | 10 | Apr 28, 2016 |
BBS12 | 18 | Apr 28, 2016 |
BBS2 | 12 | Apr 28, 2016 |
BBS4 | 19 | Apr 28, 2016 |
BBS5 | 8 | Apr 28, 2016 |
BBS7 | 7 | Apr 28, 2016 |
BBS9 | 27 | Apr 28, 2016 |
BCHE | 1 | Apr 28, 2016 |
BCKDHA | 12 | Apr 28, 2016 |
BCKDHB | 5 | Apr 28, 2016 |
BCKDK | 3 | Apr 28, 2016 |
BCOR | 5 | Apr 28, 2016 |
BDNF | 1 | Apr 28, 2016 |
BDNF-AS | 1 | Apr 28, 2016 |
BDNF-AS1 | 1 | Apr 28, 2016 |
BEST1 | 6 | Apr 28, 2016 |
BFSP1 | 6 | Apr 28, 2016 |
BFSP2 | 1 | Apr 28, 2016 |
BFSP2-AS1 | 1 | Apr 28, 2016 |
BIN1 | 25 | Apr 28, 2016 |
BIVM-ERCC5 | 8 | Apr 28, 2016 |
BLK | 11 | Apr 28, 2016 |
BLM | 15 | Apr 28, 2016 |
BLOC1S1-RDH5 | 3 | Apr 28, 2016 |
BLOC1S3 | 4 | Apr 28, 2016 |
BMP1 | 1 | Apr 28, 2016 |
BMP15 | 7 | Apr 28, 2016 |
BMP2 | 5 | Apr 28, 2016 |
BMP4 | 1 | Apr 28, 2016 |
BMPR1A | 19 | Jan 29, 2018 |
BMPR2 | 5 | Apr 28, 2016 |
BRAF | 17 | Apr 28, 2016 |
BRCA1 | 104 | Jan 29, 2018 |
BRCA2 | 183 | Jan 29, 2018 |
BRIP1 | 45 | Jan 29, 2018 |
BSCL2 | 6 | Apr 28, 2016 |
BSND | 5 | Apr 28, 2016 |
BTD | 2 | Apr 28, 2016 |
BTK | 1 | Apr 28, 2016 |
BUB1B | 11 | Apr 28, 2016 |
BUB1B-PAK6 | 2 | Apr 28, 2016 |
C10orf105 | 3 | Apr 28, 2016 |
C11orf65 | 46 | Jan 29, 2018 |
C12orf29 | 3 | Apr 28, 2016 |
C14orf39 | 1 | Apr 28, 2016 |
C17orf107 | 16 | Apr 28, 2016 |
C1QTNF5 | 6 | Apr 28, 2016 |
CA2 | 1 | Apr 28, 2016 |
CABP4 | 2 | Apr 28, 2016 |
CACNA1A | 17 | Apr 28, 2016 |
CACNA1C | 16 | Apr 28, 2016 |
CACNA1C-AS1 | 4 | Apr 28, 2016 |
CACNA1F | 4 | Apr 28, 2016 |
CACNA1S | 72 | Apr 28, 2016 |
CACNA2D1 | 3 | Apr 28, 2016 |
CACNA2D4 | 19 | Apr 28, 2016 |
CACNB2 | 6 | Apr 28, 2016 |
CAPN3 | 41 | Apr 28, 2016 |
CAPN5 | 2 | Apr 28, 2016 |
CASD1 | 4 | Apr 28, 2016 |
CASQ2 | 8 | Apr 28, 2016 |
CASR | 13 | Apr 28, 2016 |
CATIP-AS2 | 6 | Apr 28, 2016 |
CAV3 | 10 | Apr 28, 2016 |
CBL | 14 | Apr 28, 2016 |
CBS | 3 | Apr 28, 2016 |
CC2D2A | 42 | Apr 28, 2016 |
CCBE1 | 9 | Apr 28, 2016 |
CCDC103 | 4 | Apr 28, 2016 |
CCDC39 | 38 | Apr 28, 2016 |
CCDC40 | 74 | Apr 28, 2016 |
CCDC50 | 15 | Apr 28, 2016 |
CCDC65 | 2 | Apr 28, 2016 |
CCDC78 | 15 | Apr 28, 2016 |
CCDC8 | 2 | Apr 28, 2016 |
CCM2 | 45 | Oct 12, 2018 |
CCNO | 1 | Apr 28, 2016 |
CD2AP | 14 | Apr 28, 2016 |
CDAN1 | 17 | Apr 28, 2016 |
CDC6 | 4 | Apr 28, 2016 |
CDC73 | 3 | Apr 28, 2016 |
CDCA7L | 6 | Apr 28, 2016 |
CDH1 | 63 | Dec 20, 2021 |
CDH13 | 10 | Apr 28, 2016 |
CDH23 | 49 | Apr 28, 2016 |
CDH23-AS1 | 5 | Apr 28, 2016 |
CDHR1 | 13 | Apr 28, 2016 |
CDIN1 | 5 | Apr 28, 2016 |
CDK4 | 9 | Jan 29, 2018 |
CDK5RAP2 | 9 | Apr 28, 2016 |
CDKL5 | 7 | Apr 28, 2016 |
CDKN1B | 3 | Apr 28, 2016 |
CDKN1C | 10 | Apr 28, 2016 |
CDKN2A | 24 | Dec 20, 2021 |
CDON | 28 | Apr 28, 2016 |
CDT1 | 9 | Apr 28, 2016 |
CEACAM16 | 6 | Apr 28, 2016 |
CEBPA | 2 | Apr 28, 2016 |
CENPJ | 10 | Apr 28, 2016 |
CEP128 | 2 | Apr 28, 2016 |
CEP152 | 5 | Apr 28, 2016 |
CEP164 | 18 | Apr 28, 2016 |
CEP290 | 68 | Dec 23, 2019 |
CEP41 | 4 | Apr 28, 2016 |
CERKL | 7 | Apr 28, 2016 |
CERS1 | 7 | Apr 28, 2016 |
CFAP410 | 5 | Apr 28, 2016 |
CFAP53 | 13 | Apr 28, 2016 |
CFL2 | 2 | Apr 28, 2016 |
CFTR | 40 | Apr 28, 2016 |
CFTR-AS1 | 8 | Apr 28, 2016 |
CHAT | 29 | Apr 28, 2016 |
CHD2 | 13 | Apr 28, 2016 |
CHD7 | 62 | Apr 28, 2016 |
CHEK2 | 29 | Dec 20, 2021 |
CHKB | 5 | Apr 28, 2016 |
CHKB-CPT1B | 5 | Apr 28, 2016 |
CHM | 1 | Apr 28, 2016 |
CHMP2B | 4 | Apr 28, 2016 |
CHMP4B | 2 | Apr 28, 2016 |
CHPT1 | 1 | Apr 28, 2016 |
CHRDL1 | 1 | Apr 28, 2016 |
CHRNA1 | 14 | Apr 28, 2016 |
CHRNA4 | 12 | Apr 28, 2016 |
CHRNB1 | 13 | Apr 28, 2016 |
CHRNB2 | 4 | Apr 28, 2016 |
CHRND | 12 | Apr 28, 2016 |
CHRNE | 30 | Apr 28, 2016 |
CHRNG | 13 | Apr 28, 2016 |
CHST14 | 2 | Apr 28, 2016 |
CIB2 | 6 | Apr 28, 2016 |
CLCN7 | 14 | Apr 28, 2016 |
CLDN1 | 5 | Apr 28, 2016 |
CLDN14 | 7 | Apr 28, 2016 |
CLDN14-AS1 | 7 | Apr 28, 2016 |
CLDN16 | 6 | Apr 28, 2016 |
CLN3 | 2 | Apr 28, 2016 |
CLN5 | 8 | Apr 28, 2016 |
CLN6 | 4 | Apr 28, 2016 |
CLN8 | 2 | Apr 28, 2016 |
CLRN1 | 2 | Apr 28, 2016 |
CNGA3 | 4 | Apr 28, 2016 |
CNGB1 | 4 | Apr 28, 2016 |
CNGB3 | 17 | Apr 28, 2016 |
CNNM4 | 1 | Apr 28, 2016 |
CNTN1 | 21 | Apr 28, 2016 |
CNTNAP2 | 22 | Apr 28, 2016 |
COCH | 2 | Apr 28, 2016 |
COG4 | 2 | Apr 28, 2016 |
COL10A1 | 4 | Apr 28, 2016 |
COL11A1 | 44 | Apr 28, 2016 |
COL11A2 | 30 | Apr 28, 2016 |
COL12A1 | 41 | Apr 28, 2016 |
COL17A1 | 14 | Apr 28, 2016 |
COL18A1 | 37 | Apr 28, 2016 |
COL1A1 | 9 | Apr 28, 2016 |
COL1A2 | 8 | Apr 28, 2016 |
COL2A1 | 48 | Apr 28, 2016 |
COL3A1 | 40 | Apr 28, 2016 |
COL4A1 | 26 | Apr 28, 2016 |
COL4A2 | 1 | Apr 28, 2016 |
COL4A3 | 37 | Apr 28, 2016 |
COL4A4 | 37 | Apr 28, 2016 |
COL4A5 | 12 | Apr 28, 2016 |
COL4A6 | 15 | Apr 28, 2016 |
COL5A1 | 127 | Feb 20, 2020 |
COL5A2 | 50 | Apr 28, 2016 |
COL6A1 | 96 | Apr 28, 2016 |
COL6A2 | 78 | Apr 28, 2016 |
COL6A3 | 117 | Dec 20, 2016 |
COL7A1 | 14 | Apr 28, 2016 |
COL9A1 | 33 | Apr 28, 2016 |
COL9A2 | 41 | Apr 28, 2016 |
COL9A3 | 46 | Apr 28, 2016 |
COLQ | 19 | Apr 28, 2016 |
COMP | 11 | Apr 28, 2016 |
COMT | 4 | Apr 28, 2016 |
COQ2 | 12 | Apr 28, 2016 |
CP | 2 | Apr 28, 2016 |
CPA1 | 4 | Apr 28, 2016 |
CPLANE1 | 52 | Apr 28, 2016 |
CPS1 | 17 | Apr 28, 2016 |
CRB1 | 4 | Apr 28, 2016 |
CREBBP | 16 | Apr 28, 2016 |
CRPPA | 12 | Apr 28, 2016 |
CRPPA-AS1 | 5 | Apr 28, 2016 |
CRTAP | 2 | Apr 28, 2016 |
CRX | 2 | Apr 28, 2016 |
CRYAA | 3 | Apr 28, 2016 |
CRYAB | 2 | Apr 28, 2016 |
CRYBA1 | 4 | Apr 28, 2016 |
CRYBA4 | 5 | Apr 28, 2016 |
CRYBB2 | 3 | Apr 28, 2016 |
CRYBB3 | 3 | Apr 28, 2016 |
CRYGD | 5 | Apr 28, 2016 |
CRYM | 4 | Apr 28, 2016 |
CSF3R | 11 | Apr 28, 2016 |
CSRP3 | 3 | Apr 28, 2016 |
CSTB | 2 | Apr 28, 2016 |
CTC1 | 3 | Apr 28, 2016 |
CTDP1 | 5 | Apr 28, 2016 |
CTNS | 7 | Apr 28, 2016 |
CTNS-AS1 | 4 | Apr 28, 2016 |
CTRC | 5 | Apr 28, 2016 |
CTSC | 5 | Apr 28, 2016 |
CTSD | 8 | Apr 28, 2016 |
CTSF | 9 | Apr 28, 2016 |
CUL3 | 3 | Apr 28, 2016 |
CUL7 | 9 | Apr 28, 2016 |
CXCR4 | 1 | Apr 28, 2016 |
CYB5R3 | 3 | Apr 28, 2016 |
CYBA | 5 | Apr 28, 2016 |
CYBB | 1 | Apr 28, 2016 |
CYCS | 1 | Apr 28, 2016 |
CYP1B1 | 7 | Apr 28, 2016 |
CYP21A2 | 29 | Apr 28, 2016 |
CYP27A1 | 4 | Apr 28, 2016 |
CYP4F22 | 1 | Apr 28, 2016 |
CYP4V2 | 5 | Apr 28, 2016 |
DAG1 | 11 | Apr 28, 2016 |
DBT | 5 | Apr 28, 2016 |
DCHS1 | 7 | Apr 28, 2016 |
DCLRE1C | 4 | Apr 28, 2016 |
DCTN1 | 11 | Apr 28, 2016 |
DCX | 3 | Apr 28, 2016 |
DDR2 | 8 | Apr 28, 2016 |
DEPDC5 | 13 | Apr 28, 2016 |
DES | 16 | Apr 28, 2016 |
DGKE | 1 | Apr 28, 2016 |
DGUOK | 2 | Apr 28, 2016 |
DGUOK-AS1 | 1 | Apr 28, 2016 |
DHCR7 | 13 | Apr 28, 2016 |
DHODH | 4 | Apr 28, 2016 |
DIABLO | 2 | Apr 28, 2016 |
DIAPH1 | 7 | Apr 28, 2016 |
DICER1 | 116 | Dec 20, 2021 |
DIS3L2 | 3 | Apr 28, 2016 |
DISP1 | 5 | Apr 28, 2016 |
DKC1 | 2 | Apr 28, 2016 |
DLD | 3 | Apr 28, 2016 |
DLG4 | 1 | Apr 28, 2016 |
DLL3 | 12 | Apr 28, 2016 |
DLX3 | 2 | Apr 28, 2016 |
DMD | 36 | Apr 28, 2016 |
DNA2 | 6 | Apr 28, 2016 |
DNAAF1 | 50 | Apr 28, 2016 |
DNAAF11 | 12 | Apr 28, 2016 |
DNAAF2 | 27 | Apr 28, 2016 |
DNAAF3 | 27 | Apr 28, 2016 |
DNAAF3-AS1 | 21 | Apr 28, 2016 |
DNAAF4 | 4 | Apr 28, 2016 |
DNAAF4-CCPG1 | 4 | Apr 28, 2016 |
DNAAF5 | 30 | Apr 28, 2016 |
DNAH11 | 204 | Apr 28, 2016 |
DNAH5 | 187 | Apr 28, 2016 |
DNAH8 | 6 | Apr 28, 2016 |
DNAH8-AS1 | 2 | Apr 28, 2016 |
DNAI1 | 22 | Apr 28, 2016 |
DNAI2 | 37 | Apr 28, 2016 |
DNAJB6 | 4 | Apr 28, 2016 |
DNAJC5 | 4 | Apr 28, 2016 |
DNAL1 | 8 | Apr 28, 2016 |
DNASE1L1 | 1 | Apr 28, 2016 |
DNM1L | 8 | Apr 28, 2016 |
DNM2 | 16 | Apr 28, 2016 |
DNMT1 | 14 | Apr 28, 2016 |
DOCK6 | 4 | Apr 28, 2016 |
DOCK8 | 16 | Apr 28, 2016 |
DOK1 | 1 | Apr 28, 2016 |
DOK7 | 50 | Apr 28, 2016 |
DPAGT1 | 3 | Apr 28, 2016 |
DPM1 | 2 | Apr 28, 2016 |
DPYD | 10 | Apr 28, 2016 |
DPYD-AS1 | 1 | Apr 28, 2016 |
DRC1 | 4 | Apr 28, 2016 |
DRD2 | 6 | Apr 28, 2016 |
DSC2 | 7 | Apr 28, 2016 |
DSG2 | 14 | Apr 28, 2016 |
DSG2-AS1 | 7 | Apr 28, 2016 |
DSP | 24 | Apr 28, 2016 |
DSP-AS1 | 2 | Apr 28, 2016 |
DSPP | 9 | Apr 28, 2016 |
DSTYK | 2 | Apr 28, 2016 |
DTNA | 3 | Apr 28, 2016 |
DTNBP1 | 7 | Apr 28, 2016 |
DUOX2 | 14 | Apr 28, 2016 |
DUOXA2 | 5 | Apr 28, 2016 |
DUSP29 | 11 | Apr 28, 2016 |
DYNC1H1 | 14 | Apr 28, 2016 |
DYSF | 75 | Apr 28, 2016 |
EBP | 2 | Apr 28, 2016 |
ECE1 | 10 | Apr 28, 2016 |
ECEL1 | 9 | Apr 28, 2016 |
EDA | 3 | Apr 28, 2016 |
EDAR | 10 | Apr 28, 2016 |
EDARADD | 5 | Apr 28, 2016 |
EDN3 | 1 | Apr 28, 2016 |
EDNRB | 7 | Apr 28, 2016 |
EDNRB-AS1 | 5 | Apr 28, 2016 |
EFCAB13-DT | 1 | Apr 28, 2016 |
EFEMP1 | 1 | Apr 28, 2016 |
EFEMP2 | 2 | Apr 28, 2016 |
EFHC1 | 7 | Apr 28, 2016 |
EFTUD2 | 10 | Apr 28, 2016 |
EGFR | 7 | Apr 28, 2016 |
EGFR-AS1 | 1 | Apr 28, 2016 |
EGILA | 1 | Apr 28, 2016 |
EGR2 | 1 | Apr 28, 2016 |
EHMT1 | 6 | Apr 28, 2016 |
EIF2B1 | 5 | Apr 28, 2016 |
EIF2B2 | 2 | Apr 28, 2016 |
EIF2B3 | 8 | Apr 28, 2016 |
EIF2B4 | 9 | Apr 28, 2016 |
EIF2B5 | 3 | Apr 28, 2016 |
ELANE | 11 | Apr 28, 2016 |
ELN | 9 | Apr 28, 2016 |
ELN-AS1 | 1 | Apr 28, 2016 |
ELOVL4 | 1 | Apr 28, 2016 |
ELP1 | 16 | Apr 28, 2016 |
EMP2 | 1 | Apr 28, 2016 |
ENAM | 2 | Apr 28, 2016 |
ENG | 17 | Apr 28, 2016 |
EP300 | 18 | Apr 28, 2016 |
EPB42 | 12 | Apr 28, 2016 |
EPCAM | 32 | Jan 29, 2018 |
EPHA2 | 13 | Apr 28, 2016 |
EPM2A | 4 | Apr 28, 2016 |
EPM2A-DT | 3 | Apr 28, 2016 |
ERCC2 | 12 | Apr 28, 2016 |
ERCC4 | 12 | Apr 28, 2016 |
ERCC5 | 8 | Apr 28, 2016 |
ERCC6 | 17 | Apr 28, 2016 |
ERCC6-PGBD3 | 5 | Apr 28, 2016 |
ERCC8 | 5 | Apr 28, 2016 |
ERCC8-AS1 | 1 | Apr 28, 2016 |
ESCO2 | 4 | Apr 28, 2016 |
ESR1 | 2 | Apr 28, 2016 |
ESRRB | 5 | Apr 28, 2016 |
ETHE1 | 1 | Apr 28, 2016 |
EVC | 39 | Apr 28, 2016 |
EVC2 | 24 | Apr 28, 2016 |
EXOSC3 | 2 | Apr 28, 2016 |
EXT1 | 9 | Apr 28, 2016 |
EXT2 | 9 | Apr 28, 2016 |
EYA1 | 5 | Apr 28, 2016 |
EYA4 | 3 | Apr 28, 2016 |
EZH2 | 6 | Apr 28, 2016 |
F10 | 3 | Apr 28, 2016 |
F11 | 6 | Apr 28, 2016 |
F11-AS1 | 3 | Apr 28, 2016 |
F12 | 3 | Apr 28, 2016 |
F13A1 | 7 | Apr 28, 2016 |
F13B | 4 | Apr 28, 2016 |
F2 | 7 | Apr 28, 2016 |
F5 | 31 | Apr 28, 2016 |
F7 | 5 | Apr 28, 2016 |
F8 | 7 | Apr 28, 2016 |
F9 | 3 | Apr 28, 2016 |
FAH | 12 | Apr 28, 2016 |
FAM126A | 1 | Apr 28, 2016 |
FAM20A | 5 | Apr 28, 2016 |
FAM83H | 5 | Apr 28, 2016 |
FAN1 | 2 | Apr 28, 2016 |
FANCA | 64 | Apr 28, 2016 |
FANCB | 2 | Apr 28, 2016 |
FANCC | 9 | Apr 28, 2016 |
FANCD2 | 31 | Apr 28, 2016 |
FANCD2OS | 6 | Apr 28, 2016 |
FANCE | 7 | Apr 28, 2016 |
FANCF | 7 | Apr 28, 2016 |
FANCG | 8 | Apr 28, 2016 |
FANCI | 21 | Apr 28, 2016 |
FANCL | 4 | Apr 28, 2016 |
FANCM | 17 | Apr 28, 2016 |
FARS2 | 4 | Apr 28, 2016 |
FAS | 1 | Apr 28, 2016 |
FBLN5 | 1 | Apr 28, 2016 |
FBN1 | 57 | Apr 28, 2016 |
FBN2 | 79 | Apr 28, 2016 |
FBP1 | 11 | Apr 28, 2016 |
FBXL3 | 3 | Apr 28, 2016 |
FBXL4 | 3 | Apr 28, 2016 |
FECH | 3 | Apr 28, 2016 |
FERMT1 | 6 | Apr 28, 2016 |
FGA | 4 | Apr 28, 2016 |
FGB | 8 | Apr 28, 2016 |
FGD1 | 6 | Apr 28, 2016 |
FGF3 | 4 | Apr 28, 2016 |
FGFR1 | 1 | Apr 28, 2016 |
FGFR2 | 11 | Apr 28, 2016 |
FGFR3 | 35 | Apr 28, 2016 |
FH | 5 | Apr 28, 2016 |
FHL1 | 3 | Apr 28, 2016 |
FIG4 | 12 | Apr 28, 2016 |
FKBP10 | 2 | Apr 28, 2016 |
FKRP | 13 | Apr 28, 2016 |
FKTN | 14 | Apr 28, 2016 |
FLCN | 9 | Apr 28, 2016 |
FLNA | 13 | Apr 28, 2016 |
FLNB | 25 | Apr 28, 2016 |
FLNB-AS1 | 2 | Apr 28, 2016 |
FLNC | 57 | Apr 28, 2016 |
FLNC-AS1 | 15 | Apr 28, 2016 |
FLT4 | 59 | Apr 28, 2016 |
FMO3 | 19 | Jul 10, 2017 |
FOLR1 | 1 | Apr 28, 2016 |
FOXC1 | 2 | Apr 28, 2016 |
FOXC2 | 6 | Apr 28, 2016 |
FOXC2-AS1 | 3 | Apr 28, 2016 |
FOXE3 | 3 | Apr 28, 2016 |
FOXG1 | 1 | Apr 28, 2016 |
FOXH1 | 11 | Apr 28, 2016 |
FOXI1 | 1 | Apr 28, 2016 |
FOXL2 | 4 | Apr 28, 2016 |
FOXP3 | 1 | Apr 28, 2016 |
FRAS1 | 32 | Apr 28, 2016 |
FREM1 | 14 | Apr 28, 2016 |
FREM2 | 6 | Apr 28, 2016 |
FRMD7 | 5 | Apr 28, 2016 |
FSHB | 1 | Apr 28, 2016 |
FSHR | 5 | Apr 28, 2016 |
FTCD | 7 | Apr 28, 2016 |
FTH1 | 3 | Apr 28, 2016 |
FTL | 1 | Apr 28, 2016 |
FUS | 8 | Apr 28, 2016 |
FYCO1 | 21 | Apr 28, 2016 |
G6PC1 | 4 | Apr 28, 2016 |
G6PC3 | 4 | Apr 28, 2016 |
G6PD | 1 | Apr 28, 2016 |
GAA | 54 | Apr 28, 2016 |
GABRA1 | 6 | Apr 28, 2016 |
GABRB3 | 5 | Apr 28, 2016 |
GABRD | 4 | Apr 28, 2016 |
GABRG2 | 4 | Apr 28, 2016 |
GALC | 24 | Apr 28, 2016 |
GALE | 3 | Apr 28, 2016 |
GALK1 | 2 | Apr 28, 2016 |
GALNS | 20 | Apr 28, 2016 |
GALT | 7 | Apr 28, 2016 |
GAMT | 3 | Apr 28, 2016 |
GAN | 8 | Apr 28, 2016 |
GARS1 | 18 | Apr 28, 2016 |
GATA1 | 3 | Apr 28, 2016 |
GATA2 | 65 | Dec 20, 2021 |
GATA3 | 3 | Apr 28, 2016 |
GATAD1 | 3 | Apr 28, 2016 |
GATM | 2 | Apr 28, 2016 |
GBA | 10 | Jun 7, 2019 |
GBE1 | 15 | Apr 28, 2016 |
GBF1 | 1 | Apr 28, 2016 |
GCDH | 5 | Apr 28, 2016 |
GCH1 | 2 | Apr 28, 2016 |
GCK | 10 | Apr 28, 2016 |
GCNT2 | 3 | Apr 28, 2016 |
GDAP1 | 1 | Apr 28, 2016 |
GDF1 | 7 | Apr 28, 2016 |
GDF5 | 5 | Apr 28, 2016 |
GDF5-AS1 | 3 | Apr 28, 2016 |
GDF6 | 5 | Apr 28, 2016 |
GDNF | 2 | Apr 28, 2016 |
GFI1 | 11 | Apr 28, 2016 |
GFPT1 | 8 | Apr 28, 2016 |
GH-LCR | 25 | Apr 28, 2016 |
GHR | 10 | Apr 28, 2016 |
GHSR | 2 | Apr 28, 2016 |
GIPC3 | 4 | Apr 28, 2016 |
GJA1 | 3 | Apr 28, 2016 |
GJA3 | 3 | Apr 28, 2016 |
GJA8 | 1 | Apr 28, 2016 |
GJB1 | 1 | Apr 28, 2016 |
GJB2 | 10 | Dec 20, 2021 |
GJB3 | 6 | Apr 28, 2016 |
GJC2 | 3 | Apr 28, 2016 |
GJD2-DT | 3 | Apr 28, 2016 |
GLA | 8 | Apr 28, 2016 |
GLB1 | 12 | Apr 28, 2016 |
GLDC | 9 | Apr 28, 2016 |
GLE1 | 7 | Apr 28, 2016 |
GLI2 | 42 | Apr 28, 2016 |
GLI3 | 46 | Apr 28, 2016 |
GLIS2 | 7 | Apr 28, 2016 |
GLIS3 | 5 | Apr 28, 2016 |
GLUD1 | 7 | Apr 28, 2016 |
GM2A | 5 | Apr 28, 2016 |
GMPPB | 6 | Apr 28, 2016 |
GNA11 | 5 | Apr 28, 2016 |
GNAT2 | 3 | Apr 28, 2016 |
GNB4 | 2 | Apr 28, 2016 |
GNE | 9 | Apr 28, 2016 |
GNG3 | 1 | Apr 28, 2016 |
GNPAT | 5 | Apr 28, 2016 |
GNPTAB | 11 | Apr 28, 2016 |
GNPTG | 2 | Apr 28, 2016 |
GNS | 3 | Apr 28, 2016 |
GORAB | 1 | Apr 28, 2016 |
GOSR2 | 5 | Apr 28, 2016 |
GP1BA | 11 | Apr 28, 2016 |
GP1BB | 1 | Apr 28, 2016 |
GP6 | 19 | Apr 28, 2016 |
GP9 | 3 | Apr 28, 2016 |
GPC3 | 4 | Apr 28, 2016 |
GPD1L | 1 | Apr 28, 2016 |
GPHN | 2 | Apr 28, 2016 |
GPI | 1 | Apr 28, 2016 |
GPR143 | 4 | Apr 28, 2016 |
GPSM2 | 6 | Apr 28, 2016 |
GRHL2 | 5 | Apr 28, 2016 |
GRHPR | 4 | Apr 28, 2016 |
GRIN2A | 7 | Apr 28, 2016 |
GRIP1 | 5 | Apr 28, 2016 |
GRN | 7 | Apr 28, 2016 |
GRXCR1 | 3 | Apr 28, 2016 |
GSS | 2 | Apr 28, 2016 |
GTF3C2-AS2 | 6 | Apr 28, 2016 |
GUCA1A | 1 | Apr 28, 2016 |
GUCA1B | 1 | Apr 28, 2016 |
GUCY2D | 11 | Apr 28, 2016 |
GUSB | 5 | Apr 28, 2016 |
GYS1 | 1 | Apr 28, 2016 |
GYS2 | 23 | Apr 28, 2016 |
HADH | 1 | Apr 28, 2016 |
HAMP | 1 | Apr 28, 2016 |
HAX1 | 5 | Apr 28, 2016 |
HBB | 11 | Apr 28, 2016 |
HCCS | 1 | Apr 28, 2016 |
HCN4 | 6 | Apr 28, 2016 |
HDAC8 | 2 | Apr 28, 2016 |
HEPACAM | 8 | Apr 28, 2016 |
HES7 | 3 | Apr 28, 2016 |
HEXA | 11 | Apr 28, 2016 |
HEXB | 14 | Oct 12, 2018 |
HFE | 1 | Apr 28, 2016 |
HGD | 2 | Apr 28, 2016 |
HGF | 5 | Apr 28, 2016 |
HGSNAT | 3 | Apr 28, 2016 |
HIGD2B | 2 | Apr 28, 2016 |
HINT1 | 1 | Apr 28, 2016 |
HJV | 1 | Apr 28, 2016 |
HK1 | 1 | Apr 28, 2016 |
HLCS | 9 | Apr 28, 2016 |
HMBS | 5 | Apr 28, 2016 |
HMGCL | 2 | Apr 28, 2016 |
HNF1A | 16 | Apr 28, 2016 |
HNF1B | 4 | Apr 28, 2016 |
HNF4A | 10 | Apr 28, 2016 |
HNRNPA1 | 1 | Apr 28, 2016 |
HNRNPA2B1 | 4 | Apr 28, 2016 |
HNRNPUL2-BSCL2 | 6 | Apr 28, 2016 |
HPS1 | 23 | Apr 28, 2016 |
HPS3 | 8 | Apr 28, 2016 |
HPS4 | 16 | Apr 28, 2016 |
HPS5 | 17 | Apr 28, 2016 |
HPS6 | 8 | Apr 28, 2016 |
HRAS | 9 | Apr 28, 2016 |
HSD17B3 | 5 | Apr 28, 2016 |
HSD17B3-AS1 | 1 | Apr 28, 2016 |
HSD17B4 | 11 | Apr 28, 2016 |
HSD3B7 | 8 | Apr 28, 2016 |
HSF4 | 1 | Apr 28, 2016 |
HSPB1 | 5 | Apr 28, 2016 |
HSPB8 | 2 | Apr 28, 2016 |
IDS | 1 | Apr 28, 2016 |
IDUA | 24 | Apr 28, 2016 |
IFIH1 | 4 | Apr 28, 2016 |
IFITM5 | 1 | Apr 28, 2016 |
IFT122 | 10 | Apr 28, 2016 |
IGHMBP2 | 30 | Apr 28, 2016 |
IGSF1 | 4 | Apr 28, 2016 |
IL7R | 4 | Apr 28, 2016 |
ILDR1 | 6 | Apr 28, 2016 |
INF2 | 27 | Apr 28, 2016 |
INPP5E | 33 | Apr 28, 2016 |
INS | 6 | Apr 28, 2016 |
INS-IGF2 | 5 | Apr 28, 2016 |
INVS | 24 | Apr 28, 2016 |
IQCB1 | 9 | Apr 28, 2016 |
IRF6 | 8 | Apr 28, 2016 |
ITGA2B | 6 | Apr 28, 2016 |
ITGA7 | 27 | Apr 28, 2016 |
ITGB3 | 9 | Apr 28, 2016 |
ITGB4 | 2 | Apr 28, 2016 |
IVD | 5 | Apr 28, 2016 |
IYD | 1 | Apr 28, 2016 |
JAG1 | 34 | Apr 28, 2016 |
JUP | 13 | Apr 28, 2016 |
KAT6B | 22 | Apr 28, 2016 |
KBTBD13 | 18 | Apr 28, 2016 |
KCNA5 | 1 | Apr 28, 2016 |
KCND3 | 2 | Apr 28, 2016 |
KCNE1 | 1 | Apr 28, 2016 |
KCNE2 | 1 | Apr 28, 2016 |
KCNE3 | 1 | Apr 28, 2016 |
KCNH1 | 1 | Apr 28, 2016 |
KCNH2 | 5 | Apr 28, 2016 |
KCNJ10 | 3 | Apr 28, 2016 |
KCNJ11 | 13 | Apr 28, 2016 |
KCNJ2 | 2 | Apr 28, 2016 |
KCNJ5 | 6 | Apr 28, 2016 |
KCNQ1 | 7 | Apr 28, 2016 |
KCNQ1-AS1 | 1 | Apr 28, 2016 |
KCNQ1OT1 | 1 | Apr 28, 2016 |
KCNQ2 | 9 | Apr 28, 2016 |
KCNQ4 | 14 | Apr 28, 2016 |
KCNT1 | 19 | Apr 28, 2016 |
KCNV2 | 12 | Apr 28, 2016 |
KCTD7 | 4 | Apr 28, 2016 |
KDM6A | 8 | Apr 28, 2016 |
KIF11 | 5 | Apr 28, 2016 |
KIF1B | 9 | Apr 28, 2016 |
KIF7 | 42 | Apr 28, 2016 |
KIFBP | 2 | Apr 28, 2016 |
KIRREL2 | 5 | Apr 28, 2016 |
KIT | 11 | Apr 28, 2016 |
KLF1 | 1 | Apr 28, 2016 |
KLF11 | 3 | Apr 28, 2016 |
KLHL3 | 3 | Apr 28, 2016 |
KLHL40 | 10 | Apr 28, 2016 |
KLHL41 | 6 | Apr 28, 2016 |
KLK4 | 3 | Apr 28, 2016 |
KLLN | 3 | Dec 20, 2016 |
KMT2A | 3 | Apr 28, 2016 |
KMT2D | 45 | Apr 28, 2016 |
KRAS | 7 | Dec 23, 2019 |
KRIT1 | 117 | Dec 20, 2021 |
KRT14 | 8 | Apr 28, 2016 |
KRT5 | 13 | Apr 28, 2016 |
L1CAM | 14 | Apr 28, 2016 |
LAMA2 | 85 | Apr 28, 2016 |
LAMA3 | 9 | Apr 28, 2016 |
LAMA4 | 14 | Apr 28, 2016 |
LAMB2 | 21 | Apr 28, 2016 |
LAMB3 | 17 | Apr 28, 2016 |
LAMC2 | 8 | Apr 28, 2016 |
LAMP2 | 3 | Apr 28, 2016 |
LARGE1 | 23 | Apr 28, 2016 |
LARS2 | 6 | Apr 28, 2016 |
LARS2-AS1 | 3 | Apr 28, 2016 |
LBR | 4 | Apr 28, 2016 |
LDB3 | 23 | Apr 28, 2016 |
LDLR | 15 | Apr 28, 2016 |
LEFTY2 | 9 | Apr 28, 2016 |
LFNG | 9 | Apr 28, 2016 |
LHCGR | 3 | Apr 28, 2016 |
LHFPL5 | 1 | Apr 28, 2016 |
LHX4 | 3 | Apr 28, 2016 |
LHX4-AS1 | 2 | Apr 28, 2016 |
LIG4 | 1 | Apr 28, 2016 |
LIMS2 | 7 | Apr 28, 2016 |
LINC01389 | 3 | Apr 28, 2016 |
LIPA | 5 | Apr 28, 2016 |
LMAN1 | 7 | Apr 28, 2016 |
LMBRD1 | 3 | Apr 28, 2016 |
LMNA | 18 | Apr 28, 2016 |
LMX1B | 13 | Apr 28, 2016 |
LOC100130587 | 2 | Apr 28, 2016 |
LOC100506071 | 2 | Apr 28, 2016 |
LOC100507346 | 9 | Apr 28, 2016 |
LOC100507443 | 5 | Apr 28, 2016 |
LOC101448202 | 24 | Apr 28, 2016 |
LOC101927055 | 6 | Apr 28, 2016 |
LOC102723566 | 5 | Apr 28, 2016 |
LOC102724058 | 8 | Apr 28, 2016 |
LOC105371566 | 25 | Apr 28, 2016 |
LOC105372273 | 1 | Apr 28, 2016 |
LOC105378311 | 1 | Apr 28, 2016 |
LOC106050102 | 1 | Apr 28, 2016 |
LOC106099062 | 3 | Apr 28, 2016 |
LOC106560211 | 1 | Apr 28, 2016 |
LOC106627981 | 9 | Jun 7, 2019 |
LOC106780800 | 28 | Apr 28, 2016 |
LOC106780803 | 28 | Apr 28, 2016 |
LOC107133510 | 11 | Apr 28, 2016 |
LOC107303338 | 24 | Apr 28, 2016 |
LOC107303340 | 20 | Jun 11, 2018 |
LOC107457585 | 4 | Apr 28, 2016 |
LOC107652445 | 1 | Apr 28, 2016 |
LOC107982234 | 7 | Apr 28, 2016 |
LOC107988032 | 1 | Apr 28, 2016 |
LOC108903148 | 2 | Apr 28, 2016 |
LOC109115964 | 1 | Apr 28, 2016 |
LOC109461476 | 1 | Apr 28, 2016 |
LOC109610631 | 1 | Apr 28, 2016 |
LOC109611589 | 2 | Apr 28, 2016 |
LOC110006319 | 8 | Apr 28, 2016 |
LOC110011216 | 5 | Apr 28, 2016 |
LOC110121269 | 2 | Apr 28, 2016 |
LOC110121288 | 6 | Apr 28, 2016 |
LOC110121427 | 2 | Apr 28, 2016 |
LOC110121471 | 1 | Apr 28, 2016 |
LOC110121486 | 5 | Apr 28, 2016 |
LOC110631417 | 1 | Apr 28, 2016 |
LOC111674463 | 1 | Apr 28, 2016 |
LOC111674472 | 3 | Apr 28, 2016 |
LOC111674477 | 3 | Apr 28, 2016 |
LOC111811965 | 1 | Apr 28, 2016 |
LOC112449713 | 1 | Apr 28, 2016 |
LOC112486223 | 3 | Apr 28, 2016 |
LOC112533671 | 1 | Apr 28, 2016 |
LOC112533672 | 2 | Apr 28, 2016 |
LOC112997540 | 4 | Apr 28, 2016 |
LOC113748416 | 2 | Oct 12, 2018 |
LOC113939944 | 1 | Apr 28, 2016 |
LOC114827827 | 1 | Apr 28, 2016 |
LOC114827850 | 1 | Apr 28, 2016 |
LOC114827851 | 5 | Apr 28, 2016 |
LOC117038776 | 1 | Apr 28, 2016 |
LOC117038795 | 1 | Apr 28, 2016 |
LOC118142757 | 1 | Apr 28, 2016 |
LOC123864065 | 3 | Apr 28, 2016 |
LOC124153154 | 3 | Apr 28, 2016 |
LOC124310614 | 2 | Apr 28, 2016 |
LOXHD1 | 23 | Apr 28, 2016 |
LOXL3 | 3 | Apr 28, 2016 |
LPIN1 | 19 | Apr 28, 2016 |
LPIN2 | 3 | Apr 28, 2016 |
LRIG2 | 1 | Apr 28, 2016 |
LRMDA | 7 | Apr 28, 2016 |
LRP2 | 43 | Apr 28, 2016 |
LRP5 | 16 | Apr 28, 2016 |
LRRC37A2 | 5 | Apr 28, 2016 |
LRRC56 | 9 | Apr 28, 2016 |
LRTOMT | 1 | Apr 28, 2016 |
LTBP2 | 6 | Apr 28, 2016 |
LURAP1L-AS1 | 5 | Apr 28, 2016 |
LYST | 41 | Apr 28, 2016 |
MAF | 6 | Apr 28, 2016 |
MAN2B1 | 4 | Apr 28, 2016 |
MAP2K1 | 13 | Apr 28, 2016 |
MAP2K2 | 26 | Apr 28, 2016 |
MAPT | 18 | Apr 28, 2016 |
MARVELD2 | 2 | Apr 28, 2016 |
MASTL | 18 | Apr 28, 2016 |
MAT1A | 7 | Apr 28, 2016 |
MATN3 | 6 | Apr 28, 2016 |
MATR3 | 2 | Apr 28, 2016 |
MBD5 | 2 | Apr 28, 2016 |
MC1R | 13 | Apr 28, 2016 |
MC4R | 1 | Apr 28, 2016 |
MCCC1 | 9 | Apr 28, 2016 |
MCCC2 | 10 | Apr 28, 2016 |
MCOLN1 | 2 | Apr 28, 2016 |
MCPH1 | 8 | Apr 28, 2016 |
MECP2 | 4 | Apr 28, 2016 |
MED12 | 12 | Apr 28, 2016 |
MED12L | 2 | Apr 28, 2016 |
MED23 | 1 | Apr 28, 2016 |
MEF2C | 1 | Apr 28, 2016 |
MEF2C-AS2 | 1 | Apr 28, 2016 |
MEFV | 15 | Apr 28, 2016 |
MEGF10 | 23 | Apr 28, 2016 |
MEN1 | 26 | Dec 20, 2021 |
MEOX1 | 2 | Apr 28, 2016 |
MESP2 | 14 | Apr 28, 2016 |
MET | 18 | Apr 28, 2016 |
MFF-DT | 36 | Apr 28, 2016 |
MFN2 | 7 | Apr 28, 2016 |
MFRP | 6 | Apr 28, 2016 |
MFSD8 | 2 | Apr 28, 2016 |
MGAT2 | 1 | Apr 28, 2016 |
MGME1 | 1 | Apr 28, 2016 |
MHRT | 12 | Apr 28, 2016 |
MILR1 | 3 | Apr 28, 2016 |
MIP | 1 | Apr 28, 2016 |
MIR1225 | 1 | Apr 28, 2016 |
MIR6084 | 1 | Apr 28, 2016 |
MIR6511B1 | 1 | Apr 28, 2016 |
MIR6766 | 1 | Apr 28, 2016 |
MIR6886 | 1 | Apr 28, 2016 |
MITF | 5 | Jul 10, 2017 |
MKKS | 11 | Apr 28, 2016 |
MKS1 | 18 | Apr 28, 2016 |
MLC1 | 19 | Apr 28, 2016 |
MLH1 | 53 | Dec 20, 2021 |
MLH3 | 4 | Apr 28, 2016 |
MMAA | 3 | Apr 28, 2016 |
MMAB | 8 | Apr 28, 2016 |
MMACHC | 3 | Apr 28, 2016 |
MMADHC | 2 | Apr 28, 2016 |
MMP20 | 4 | Apr 28, 2016 |
MMUT | 7 | Apr 28, 2016 |
MPDU1 | 3 | Apr 28, 2016 |
MPI | 5 | Apr 28, 2016 |
MPL | 11 | Apr 28, 2016 |
MPZ | 2 | Apr 28, 2016 |
MRE11 | 6 | Apr 28, 2016 |
MSH2 | 72 | Dec 20, 2021 |
MSH6 | 81 | Dec 20, 2021 |
MSX2 | 1 | Apr 28, 2016 |
MTM1 | 3 | Apr 28, 2016 |
MTMR10 | 1 | Apr 28, 2016 |
MTMR2 | 2 | Apr 28, 2016 |
MTPAP | 4 | Apr 28, 2016 |
MTR | 1 | Apr 28, 2016 |
MTRFR | 2 | Apr 28, 2016 |
MTRR | 1 | Apr 28, 2016 |
MUSK | 23 | Apr 28, 2016 |
MUTYH | 42 | Jan 29, 2018 |
MVK | 11 | Apr 28, 2016 |
MYBPC1 | 14 | Apr 28, 2016 |
MYBPC3 | 22 | Apr 28, 2016 |
MYEF2 | 1 | Apr 28, 2016 |
MYF6 | 2 | Apr 28, 2016 |
MYH11 | 59 | Apr 28, 2016 |
MYH14 | 31 | Apr 28, 2016 |
MYH2 | 20 | Apr 28, 2016 |
MYH3 | 61 | Apr 28, 2016 |
MYH6 | 32 | Apr 28, 2016 |
MYH7 | 60 | Apr 28, 2016 |
MYH8 | 19 | Apr 28, 2016 |
MYH9 | 81 | Apr 28, 2016 |
MYHAS | 39 | Apr 28, 2016 |
MYL2 | 5 | Apr 28, 2016 |
MYL3 | 3 | Apr 28, 2016 |
MYLK | 54 | Apr 28, 2016 |
MYLK-AS1 | 2 | Apr 28, 2016 |
MYO15A | 34 | Apr 28, 2016 |
MYO1A | 6 | Apr 28, 2016 |
MYO3A | 27 | Apr 28, 2016 |
MYO5A | 20 | Apr 28, 2016 |
MYO6 | 11 | Apr 28, 2016 |
MYO7A | 31 | Apr 28, 2016 |
MYOC | 1 | Apr 28, 2016 |
MYOT | 12 | Apr 28, 2016 |
NAGLU | 3 | Apr 28, 2016 |
NAGPA | 6 | Apr 28, 2016 |
NAGS | 5 | Apr 28, 2016 |
NALCN | 16 | Apr 28, 2016 |
NALCN-AS1 | 1 | Apr 28, 2016 |
NBEAL2 | 18 | Apr 28, 2016 |
NBN | 52 | Dec 20, 2021 |
NCF2 | 4 | Apr 28, 2016 |
NCF4 | 7 | Apr 28, 2016 |
NCF4-AS1 | 1 | Apr 28, 2016 |
NDE1 | 30 | Apr 28, 2016 |
NDP | 1 | Apr 28, 2016 |
NDRG1 | 2 | Apr 28, 2016 |
NDUFS1 | 5 | Apr 28, 2016 |
NDUFS7 | 2 | Apr 28, 2016 |
NEB | 228 | Nov 9, 2018 |
NEK8 | 2 | Apr 28, 2016 |
NEUROD1 | 2 | Apr 28, 2016 |
NEXN | 1 | Apr 28, 2016 |
NF1 | 125 | Dec 20, 2021 |
NF2 | 6 | Apr 28, 2016 |
NHLRC1 | 2 | Apr 28, 2016 |
NHP2 | 2 | Apr 28, 2016 |
NHS | 3 | Apr 28, 2016 |
NIPAL4 | 4 | Apr 28, 2016 |
NIPBL | 21 | Apr 28, 2016 |
NKX2-1 | 1 | Apr 28, 2016 |
NKX2-5 | 6 | Apr 28, 2016 |
NLRP12 | 9 | Apr 28, 2016 |
NLRP3 | 10 | Apr 28, 2016 |
NME8 | 39 | Apr 28, 2016 |
NOC3L | 3 | Apr 28, 2016 |
NODAL | 6 | Apr 28, 2016 |
NOP10 | 1 | Apr 28, 2016 |
NOTCH2 | 8 | Apr 28, 2016 |
NOTCH3 | 39 | Apr 28, 2016 |
NPC1 | 29 | Apr 28, 2016 |
NPC2 | 1 | Apr 28, 2016 |
NPHP1 | 14 | Apr 28, 2016 |
NPHP3 | 38 | Apr 28, 2016 |
NPHP3-ACAD11 | 38 | Apr 28, 2016 |
NPHP3-AS1 | 4 | Apr 28, 2016 |
NPHP4 | 37 | Apr 28, 2016 |
NPHS1 | 30 | Apr 28, 2016 |
NPHS2 | 9 | Apr 28, 2016 |
NPPA | 2 | Apr 28, 2016 |
NPPA-AS1 | 2 | Apr 28, 2016 |
NR0B1 | 2 | Apr 28, 2016 |
NR1H4 | 4 | Apr 28, 2016 |
NR2E3 | 4 | Apr 28, 2016 |
NR3C2 | 6 | Apr 28, 2016 |
NR5A1 | 2 | Apr 28, 2016 |
NRTN | 4 | Apr 28, 2016 |
NRXN1 | 5 | Apr 28, 2016 |
NSD1 | 46 | Apr 28, 2016 |
NSDHL | 1 | Apr 28, 2016 |
NSUN6 | 5 | Apr 28, 2016 |
NT5DC1 | 4 | Apr 28, 2016 |
OCA2 | 27 | Apr 28, 2016 |
OCRL | 1 | Apr 28, 2016 |
ODAD1 | 40 | Apr 28, 2016 |
ODAD2 | 1 | Apr 28, 2016 |
ODAD3 | 1 | Apr 28, 2016 |
ODAPH | 1 | Apr 28, 2016 |
OFD1 | 17 | Apr 28, 2016 |
OPA1 | 11 | Apr 28, 2016 |
OPA1-AS1 | 2 | Apr 28, 2016 |
OPA3 | 1 | Apr 28, 2016 |
OPHN1 | 2 | Apr 28, 2016 |
OPTN | 9 | Apr 28, 2016 |
ORC1 | 1 | Apr 28, 2016 |
ORC4 | 1 | Apr 28, 2016 |
ORC6 | 2 | Apr 28, 2016 |
OTC | 9 | Apr 28, 2016 |
OTOA | 7 | Apr 28, 2016 |
OTOF | 34 | Apr 28, 2016 |
OXCT1 | 1 | Apr 28, 2016 |
OXTR | 8 | Apr 28, 2016 |
P2RY12 | 2 | Apr 28, 2016 |
PAFAH1B1 | 8 | Apr 28, 2016 |
PAH | 16 | Apr 28, 2016 |
PAK6 | 1 | Apr 28, 2016 |
PALB2 | 57 | Jan 29, 2018 |
PAX2 | 4 | Apr 28, 2016 |
PAX3 | 6 | Apr 28, 2016 |
PAX4 | 5 | Apr 28, 2016 |
PAX6 | 3 | Apr 28, 2016 |
PAX8 | 2 | Apr 28, 2016 |
PAX8-AS1 | 2 | Apr 28, 2016 |
PAX9 | 1 | Apr 28, 2016 |
PCCA | 11 | Apr 28, 2016 |
PCCB | 5 | Apr 28, 2016 |
PCDH15 | 21 | Apr 28, 2016 |
PCDH19 | 5 | Apr 28, 2016 |
PCSK9 | 18 | Apr 28, 2016 |
PDCD10 | 23 | Dec 20, 2021 |
PDE6C | 12 | Apr 28, 2016 |
PDGFRA | 10 | Apr 28, 2016 |
PDGFRB | 5 | Apr 28, 2016 |
PDSS2 | 7 | Apr 28, 2016 |
PDX1 | 2 | Apr 28, 2016 |
PDZD7 | 9 | Apr 28, 2016 |
PEX1 | 13 | Apr 28, 2016 |
PEX10 | 8 | Apr 28, 2016 |
PEX13 | 1 | Apr 28, 2016 |
PEX14 | 9 | Apr 28, 2016 |
PEX16 | 5 | Apr 28, 2016 |
PEX19 | 1 | Apr 28, 2016 |
PEX2 | 1 | Apr 28, 2016 |
PEX26 | 2 | Apr 28, 2016 |
PEX3 | 6 | Apr 28, 2016 |
PEX5 | 4 | Apr 28, 2016 |
PEX6 | 14 | Apr 28, 2016 |
PEX7 | 2 | Apr 28, 2016 |
PFKM | 21 | Apr 28, 2016 |
PFN1 | 1 | Apr 28, 2016 |
PGBD3 | 2 | Apr 28, 2016 |
PHEX | 1 | Apr 28, 2016 |
PHKA1 | 5 | Apr 28, 2016 |
PHKA1-AS1 | 1 | Apr 28, 2016 |
PHKA2 | 13 | Apr 28, 2016 |
PHKA2-AS1 | 1 | Apr 28, 2016 |
PHKB | 11 | Apr 28, 2016 |
PHKG2 | 7 | Apr 28, 2016 |
PHOX2A | 3 | Apr 28, 2016 |
PHOX2B | 11 | Apr 28, 2016 |
PHOX2B-AS1 | 1 | Apr 28, 2016 |
PHYH | 4 | Apr 28, 2016 |
PIEZO2 | 37 | Apr 28, 2016 |
PIGO | 9 | Apr 28, 2016 |
PIK3CA | 6 | Apr 28, 2016 |
PIK3R5 | 8 | Apr 28, 2016 |
PINK1 | 3 | Apr 28, 2016 |
PINK1-AS | 1 | Apr 28, 2016 |
PITPNM3 | 12 | Apr 28, 2016 |
PITX2 | 1 | Apr 28, 2016 |
PITX3 | 1 | Apr 28, 2016 |
PJVK | 4 | Apr 28, 2016 |
PKD1 | 165 | Dec 3, 2021 |
PKD1-AS1 | 17 | Apr 28, 2016 |
PKD2 | 15 | Apr 28, 2016 |
PKD2L2-DT | 12 | Apr 28, 2016 |
PKHD1 | 105 | Apr 28, 2016 |
PKLR | 2 | Apr 28, 2016 |
PKP1 | 2 | Apr 28, 2016 |
PKP2 | 9 | Apr 28, 2016 |
PLCB1 | 16 | Apr 28, 2016 |
PLCE1 | 24 | Apr 28, 2016 |
PLCE1-AS1 | 3 | Apr 28, 2016 |
PLEC | 59 | Apr 28, 2016 |
PLEKHG2 | 1 | Apr 28, 2016 |
PLEKHG3 | 1 | Apr 28, 2016 |
PLEKHG5 | 2 | Apr 28, 2016 |
PLOD1 | 7 | Apr 28, 2016 |
PLOD2 | 2 | Apr 28, 2016 |
PLP1 | 2 | Apr 28, 2016 |
PLUT | 2 | Apr 28, 2016 |
PMM2 | 6 | Apr 28, 2016 |
PMS2 | 72 | Dec 20, 2021 |
PNKD | 6 | Apr 28, 2016 |
PNKP | 3 | Apr 28, 2016 |
PNPLA1 | 5 | Apr 28, 2016 |
PNPLA2 | 22 | Apr 28, 2016 |
PNPO | 4 | Apr 28, 2016 |
POLD1 | 119 | Dec 20, 2021 |
POLE | 156 | Dec 20, 2021 |
POLG | 26 | Apr 28, 2016 |
POLG2 | 3 | Apr 28, 2016 |
POLH | 4 | Apr 28, 2016 |
POLR1C | 8 | Apr 28, 2016 |
POLR2F | 4 | Apr 28, 2016 |
POLR3H | 1 | Apr 28, 2016 |
POMGNT1 | 18 | Apr 28, 2016 |
POMGNT2 | 8 | Apr 28, 2016 |
POMK | 2 | Apr 28, 2016 |
POMT1 | 44 | Apr 28, 2016 |
POMT2 | 23 | Apr 28, 2016 |
POR | 7 | Apr 28, 2016 |
POU4F3 | 1 | Apr 28, 2016 |
PPM1D | 2 | Apr 28, 2016 |
PPT1 | 3 | Apr 28, 2016 |
PRF1 | 11 | Apr 28, 2016 |
PRKAG2 | 13 | Apr 28, 2016 |
PRKAR1A | 5 | Apr 28, 2016 |
PRKAR1B | 3 | Apr 28, 2016 |
PRKCSH | 10 | Apr 28, 2016 |
PRKN | 4 | Apr 28, 2016 |
PROC | 3 | Apr 28, 2016 |
PROM1 | 12 | Apr 28, 2016 |
PROS1 | 2 | Apr 28, 2016 |
PRPH2 | 8 | Apr 28, 2016 |
PRPS1 | 2 | Apr 28, 2016 |
PRRT2 | 1 | Apr 28, 2016 |
PRSS1 | 7 | Apr 28, 2016 |
PRX | 1 | Apr 28, 2016 |
PSAP | 16 | Apr 28, 2016 |
PSEN1 | 3 | Apr 28, 2016 |
PSEN2 | 8 | Apr 28, 2016 |
PSTPIP1 | 8 | Apr 28, 2016 |
PTCH1 | 44 | Apr 28, 2016 |
PTCHD1-AS | 1 | Apr 28, 2016 |
PTEN | 18 | Dec 20, 2021 |
PTH | 2 | Apr 28, 2016 |
PTPN11 | 20 | Apr 28, 2016 |
PXDN | 15 | Apr 28, 2016 |
PYGL | 27 | Apr 28, 2016 |
PYGM | 20 | Apr 28, 2016 |
PYY | 5 | Apr 28, 2016 |
QDPR | 1 | Apr 28, 2016 |
RAB27A | 4 | Apr 28, 2016 |
RAB3GAP1 | 3 | Apr 28, 2016 |
RAB9B | 2 | Apr 28, 2016 |
RAD21 | 3 | Apr 28, 2016 |
RAD50 | 1 | Apr 28, 2016 |
RAD51C | 24 | Dec 20, 2021 |
RAD51D | 19 | Jan 29, 2018 |
RAD51L3-RFFL | 19 | Jan 29, 2018 |
RAF1 | 12 | Apr 28, 2016 |
RAG1 | 5 | Apr 28, 2016 |
RAG2 | 1 | Apr 28, 2016 |
RAI1 | 18 | Apr 28, 2016 |
RANBP2 | 10 | Apr 28, 2016 |
RAPSN | 16 | Apr 28, 2016 |
RARS2 | 3 | Apr 28, 2016 |
RAX | 2 | Apr 28, 2016 |
RAX2 | 2 | Apr 28, 2016 |
RB1 | 11 | Apr 28, 2016 |
RBM20 | 11 | Apr 28, 2016 |
RBM48 | 1 | Apr 28, 2016 |
RDH5 | 3 | Apr 28, 2016 |
RECQL4 | 21 | Apr 28, 2016 |
REEP1 | 2 | Apr 28, 2016 |
RELN | 30 | Apr 28, 2016 |
REN | 2 | Apr 28, 2016 |
RET | 89 | Jan 29, 2018 |
RHO | 4 | Apr 28, 2016 |
RIF1 | 39 | Nov 9, 2018 |
RIMS1 | 10 | Apr 28, 2016 |
RIN2 | 2 | Apr 28, 2016 |
RIPK4 | 6 | Apr 28, 2016 |
RIT1 | 4 | Apr 28, 2016 |
RMND5B | 1 | Apr 28, 2016 |
RNASE4 | 1 | Apr 28, 2016 |
RNASEH2A | 4 | Apr 28, 2016 |
RNASEH2B | 1 | Apr 28, 2016 |
RNASEH2C | 1 | Apr 28, 2016 |
RNF17 | 2 | Apr 28, 2016 |
ROGDI | 4 | Apr 28, 2016 |
ROR2 | 14 | Apr 28, 2016 |
RP1 | 2 | Apr 28, 2016 |
RPE65 | 4 | Apr 28, 2016 |
RPGR | 32 | Apr 28, 2016 |
RPGRIP1 | 12 | Apr 28, 2016 |
RPGRIP1L | 31 | Apr 28, 2016 |
RPL36A-HNRNPH2 | 8 | Apr 28, 2016 |
RS1 | 4 | Apr 28, 2016 |
RSPH1 | 1 | Apr 28, 2016 |
RSPH4A | 16 | Apr 28, 2016 |
RSPH9 | 4 | Apr 28, 2016 |
RUNX1 | 72 | Dec 20, 2021 |
RUNX2 | 3 | Apr 28, 2016 |
RXYLT1 | 8 | Apr 28, 2016 |
RXYLT1-AS1 | 3 | Apr 28, 2016 |
RYR1 | 1048 | Dec 20, 2021 |
RYR2 | 67 | Apr 28, 2016 |
SACS | 27 | Apr 28, 2016 |
SALL1 | 22 | Apr 28, 2016 |
SALL4 | 9 | Apr 28, 2016 |
SBDS | 5 | Apr 28, 2016 |
SBF1 | 3 | Apr 28, 2016 |
SBF2 | 2 | Apr 28, 2016 |
SBF2-AS1 | 1 | Apr 28, 2016 |
SCARB2 | 7 | Apr 28, 2016 |
SCN10A | 12 | Apr 28, 2016 |
SCN11A | 3 | Apr 28, 2016 |
SCN1A | 18 | Apr 28, 2016 |
SCN1A-AS1 | 28 | Apr 28, 2016 |
SCN1B | 5 | Apr 28, 2016 |
SCN2A | 8 | Apr 28, 2016 |
SCN2B | 1 | Apr 28, 2016 |
SCN3B | 1 | Apr 28, 2016 |
SCN4A | 44 | Apr 28, 2016 |
SCN4B | 1 | Apr 28, 2016 |
SCN5A | 23 | Apr 28, 2016 |
SCN8A | 8 | Apr 28, 2016 |
SCN9A | 31 | Apr 28, 2016 |
SCNN1A | 4 | Apr 28, 2016 |
SCNN1B | 8 | Apr 28, 2016 |
SCNN1G | 7 | Apr 28, 2016 |
SCO2 | 5 | Apr 28, 2016 |
SDCCAG8 | 11 | Apr 28, 2016 |
SDHA | 26 | Apr 28, 2016 |
SDHAF2 | 3 | Apr 28, 2016 |
SDHB | 9 | Apr 28, 2016 |
SDHC | 2 | Apr 28, 2016 |
SDHD | 3 | Apr 28, 2016 |
SEC23B | 11 | Apr 28, 2016 |
SEC63 | 4 | Apr 28, 2016 |
SELENON | 31 | Apr 28, 2016 |
SEMA3E | 4 | Apr 28, 2016 |
SEMA4A | 4 | Apr 28, 2016 |
SEPT5-GP1BB | 1 | Apr 28, 2016 |
SERPINA1 | 8 | Apr 28, 2016 |
SERPINB6 | 4 | Apr 28, 2016 |
SERPINC1 | 3 | Apr 28, 2016 |
SERPINF2 | 5 | Apr 28, 2016 |
SERPING1 | 2 | Apr 28, 2016 |
SETX | 31 | Apr 28, 2016 |
SF3B4 | 2 | Apr 28, 2016 |
SFTA3 | 1 | Apr 28, 2016 |
SFTPB | 4 | Apr 28, 2016 |
SFTPC | 1 | Apr 28, 2016 |
SGCA | 9 | Apr 28, 2016 |
SGCB | 3 | Apr 28, 2016 |
SGCD | 10 | Apr 28, 2016 |
SGCE | 4 | Apr 28, 2016 |
SGCG | 13 | Apr 28, 2016 |
SGSH | 14 | Apr 28, 2016 |
SH3BP2 | 6 | Apr 28, 2016 |
SH3PXD2B | 4 | Apr 28, 2016 |
SH3TC2 | 5 | Apr 28, 2016 |
SHH | 4 | Apr 28, 2016 |
SHOC2 | 13 | Apr 28, 2016 |
SHOX | 7 | Apr 28, 2016 |
SIL1 | 4 | Apr 28, 2016 |
SIX3 | 6 | Apr 28, 2016 |
SIX5 | 2 | Apr 28, 2016 |
SIX6 | 1 | Apr 28, 2016 |
SKI | 20 | Apr 28, 2016 |
SLA | 2 | Apr 28, 2016 |
SLC12A1 | 4 | Apr 28, 2016 |
SLC12A3 | 17 | Apr 28, 2016 |
SLC12A6 | 6 | Apr 28, 2016 |
SLC16A1 | 3 | Apr 28, 2016 |
SLC16A2 | 1 | Apr 28, 2016 |
SLC17A5 | 1 | Apr 28, 2016 |
SLC17A8 | 6 | Apr 28, 2016 |
SLC19A1 | 17 | Apr 28, 2016 |
SLC19A3 | 9 | Apr 28, 2016 |
SLC24A1 | 4 | Apr 28, 2016 |
SLC24A5 | 2 | Apr 28, 2016 |
SLC25A13 | 3 | Apr 28, 2016 |
SLC25A22 | 5 | Apr 28, 2016 |
SLC25A3 | 1 | Apr 28, 2016 |
SLC25A4 | 1 | Apr 28, 2016 |
SLC26A1 | 5 | Apr 28, 2016 |
SLC26A2 | 6 | Apr 28, 2016 |
SLC26A4 | 2 | Apr 28, 2016 |
SLC26A5 | 5 | Apr 28, 2016 |
SLC26A5-AS1 | 9 | Apr 28, 2016 |
SLC2A1 | 8 | Apr 28, 2016 |
SLC2A10 | 15 | Apr 28, 2016 |
SLC2A2 | 12 | Apr 28, 2016 |
SLC33A1 | 1 | Apr 28, 2016 |
SLC34A1 | 3 | Apr 28, 2016 |
SLC35C1 | 3 | Apr 28, 2016 |
SLC37A4 | 8 | Apr 28, 2016 |
SLC40A1 | 3 | Apr 28, 2016 |
SLC45A2 | 3 | Apr 28, 2016 |
SLC4A1 | 18 | Apr 28, 2016 |
SLC4A11 | 10 | Apr 28, 2016 |
SLC52A2 | 2 | Apr 28, 2016 |
SLC52A3 | 16 | Apr 28, 2016 |
SLC5A5 | 6 | Apr 28, 2016 |
SLC5A7 | 2 | Apr 28, 2016 |
SLC9A6 | 4 | Apr 28, 2016 |
SLCO1B1 | 3 | Apr 28, 2016 |
SLCO1B3 | 4 | Apr 28, 2016 |
SLCO1B3-SLCO1B7 | 4 | Apr 28, 2016 |
SLMAP | 2 | Apr 28, 2016 |
SLX4 | 41 | Apr 28, 2016 |
SMAD3 | 8 | Apr 28, 2016 |
SMAD4 | 21 | Jan 29, 2018 |
SMARCA4 | 7 | Apr 28, 2016 |
SMARCAL1 | 15 | Apr 28, 2016 |
SMARCB1 | 2 | Apr 28, 2016 |
SMC1A | 6 | Apr 28, 2016 |
SMC3 | 17 | Apr 28, 2016 |
SMCHD1 | 29 | Apr 28, 2016 |
SMOC1 | 5 | Apr 28, 2016 |
SMPD1 | 9 | Apr 28, 2016 |
SNAPC5 | 2 | Apr 28, 2016 |
SNHG14 | 2 | Apr 28, 2016 |
SNHG31 | 4 | Apr 28, 2016 |
SNTA1 | 1 | Apr 28, 2016 |
SOD1 | 2 | Apr 28, 2016 |
SOS1 | 26 | Apr 28, 2016 |
SOX10 | 4 | Apr 28, 2016 |
SOX18 | 3 | Apr 28, 2016 |
SOX2 | 1 | Apr 28, 2016 |
SOX2-OT | 1 | Apr 28, 2016 |
SPAG1 | 7 | Apr 28, 2016 |
SPATA22 | 2 | Apr 28, 2016 |
SPG7 | 17 | Apr 28, 2016 |
SPINK1 | 4 | Apr 28, 2016 |
SPINK5 | 26 | Apr 28, 2016 |
SPRED1 | 6 | Apr 28, 2016 |
SPTA1 | 50 | Apr 28, 2016 |
SPTAN1 | 10 | Apr 28, 2016 |
SPTB | 42 | Apr 28, 2016 |
SQSTM1 | 8 | Apr 28, 2016 |
SRCAP | 8 | Apr 28, 2016 |
SRD5A2 | 2 | Apr 28, 2016 |
SRY | 1 | Apr 28, 2016 |
SSUH2 | 2 | Apr 28, 2016 |
ST3GAL3 | 5 | Apr 28, 2016 |
ST3GAL4 | 3 | Apr 28, 2016 |
ST3GAL5 | 1 | Apr 28, 2016 |
STAC3 | 11 | Apr 28, 2016 |
STAT3 | 2 | Apr 28, 2016 |
STIL | 5 | Apr 28, 2016 |
STIM1 | 14 | Apr 28, 2016 |
STK11 | 38 | Dec 20, 2021 |
STON1-GTF2A1L | 3 | Apr 28, 2016 |
STRA6 | 2 | Apr 28, 2016 |
STX11 | 4 | Apr 28, 2016 |
STXBP1 | 6 | Apr 28, 2016 |
STXBP2 | 34 | Apr 28, 2016 |
SUCLA2 | 6 | Apr 28, 2016 |
SUCLG2 | 6 | Apr 28, 2016 |
SUFU | 3 | Apr 28, 2016 |
SUMF1 | 11 | Apr 28, 2016 |
SUOX | 1 | Apr 28, 2016 |
SYCE2 | 1 | Apr 28, 2016 |
SYN3 | 1 | Apr 28, 2016 |
SYNE1 | 109 | Apr 28, 2016 |
SZT2 | 19 | Apr 28, 2016 |
SZT2-AS1 | 1 | Apr 28, 2016 |
TAF1C | 2 | Apr 28, 2016 |
TAFAZZIN | 1 | Apr 28, 2016 |
TARID | 1 | Apr 28, 2016 |
TASP1 | 1 | Jun 10, 2019 |
TAT | 1 | Apr 28, 2016 |
TBC1D24 | 4 | Apr 28, 2016 |
TBCD | 1 | Jul 7, 2021 |
TBCEL-TECTA | 18 | Apr 28, 2016 |
TBX3 | 3 | Apr 28, 2016 |
TBX3-AS1 | 1 | Apr 28, 2016 |
TBX4 | 3 | Apr 28, 2016 |
TBX5 | 8 | Apr 28, 2016 |
TBX6 | 4 | Apr 28, 2016 |
TBXA2R | 6 | Apr 28, 2016 |
TCAP | 8 | Apr 28, 2016 |
TCEA2 | 3 | Apr 28, 2016 |
TCF12 | 8 | Apr 28, 2016 |
TCF4 | 1 | Apr 28, 2016 |
TCOF1 | 18 | Apr 28, 2016 |
TCTN1 | 13 | Apr 28, 2016 |
TCTN2 | 24 | Apr 28, 2016 |
TCTN3 | 11 | Apr 28, 2016 |
TDRD7 | 9 | Apr 28, 2016 |
TECTA | 18 | Apr 28, 2016 |
TENM3 | 10 | Apr 28, 2016 |
TERT | 21 | Apr 28, 2016 |
TFAP2A | 1 | Apr 28, 2016 |
TFAP2B | 3 | Apr 28, 2016 |
TFR2 | 3 | Apr 28, 2016 |
TG | 20 | Apr 28, 2016 |
TGFB1 | 5 | Apr 28, 2016 |
TGFB2 | 5 | Apr 28, 2016 |
TGFBI | 5 | Apr 28, 2016 |
TGFBR1 | 8 | Apr 28, 2016 |
TGFBR2 | 12 | Apr 28, 2016 |
TGIF1 | 7 | Apr 28, 2016 |
TGM1 | 4 | Apr 28, 2016 |
TH | 13 | Apr 28, 2016 |
THPO | 2 | Apr 28, 2016 |
THRA | 2 | Apr 28, 2016 |
THRB | 3 | Apr 28, 2016 |
TIA1 | 3 | May 18, 2017 |
TIGD1 | 2 | Apr 28, 2016 |
TIMP3 | 1 | Apr 28, 2016 |
TJP2 | 30 | Apr 28, 2016 |
TK2 | 4 | Apr 28, 2016 |
TMC1 | 9 | Apr 28, 2016 |
TMEM126A | 2 | Apr 28, 2016 |
TMEM127 | 2 | Apr 28, 2016 |
TMEM138 | 2 | Apr 28, 2016 |
TMEM216 | 8 | Apr 28, 2016 |
TMEM231 | 11 | Apr 28, 2016 |
TMEM237 | 20 | Apr 28, 2016 |
TMEM43 | 7 | Apr 28, 2016 |
TMEM67 | 33 | Apr 28, 2016 |
TMIE | 3 | Apr 28, 2016 |
TMPPE | 2 | Apr 28, 2016 |
TMPRSS3 | 11 | Apr 28, 2016 |
TMPRSS6 | 11 | Apr 28, 2016 |
TNFRSF11A | 8 | Apr 28, 2016 |
TNFRSF11B | 5 | Apr 28, 2016 |
TNFRSF13B | 3 | Apr 28, 2016 |
TNFRSF1A | 3 | Apr 28, 2016 |
TNK2 | 14 | Apr 28, 2016 |
TNNI2 | 8 | Apr 28, 2016 |
TNNI3 | 23 | Apr 28, 2016 |
TNNT1 | 13 | Apr 28, 2016 |
TNNT2 | 13 | Apr 28, 2016 |
TNNT3 | 12 | Apr 28, 2016 |
TNPO3 | 8 | Apr 28, 2016 |
TNXB | 92 | Apr 28, 2016 |
TOE1 | 2 | Jan 29, 2018 |
TOR1A | 7 | Apr 28, 2016 |
TOR1AIP1 | 9 | Apr 28, 2016 |
TP53 | 30 | Dec 20, 2021 |
TP63 | 13 | Apr 28, 2016 |
TPM1 | 3 | Apr 28, 2016 |
TPM2 | 11 | Apr 28, 2016 |
TPM3 | 5 | Apr 28, 2016 |
TPO | 12 | Apr 28, 2016 |
TPP1 | 9 | Apr 28, 2016 |
TRAP1 | 2 | Apr 28, 2016 |
TRAPPC11 | 18 | Apr 28, 2016 |
TRAPPC9 | 8 | Apr 28, 2016 |
TRB | 7 | Apr 28, 2016 |
TRDN | 14 | Apr 28, 2016 |
TREM2 | 3 | Apr 28, 2016 |
TREX1 | 2 | Apr 28, 2016 |
TRH | 5 | Apr 28, 2016 |
TRIM32 | 4 | Apr 28, 2016 |
TRIOBP | 21 | Apr 28, 2016 |
TRPC6 | 12 | Apr 28, 2016 |
TRPM4 | 2 | Apr 28, 2016 |
TRPS1 | 5 | Apr 28, 2016 |
TRPV4 | 24 | Apr 28, 2016 |
TSC1 | 40 | Apr 28, 2016 |
TSC2 | 129 | Apr 28, 2016 |
TSEN2 | 9 | Apr 28, 2016 |
TSEN34 | 2 | Apr 28, 2016 |
TSEN54 | 24 | Apr 28, 2016 |
TSHB | 1 | Apr 28, 2016 |
TSHR | 7 | Apr 28, 2016 |
TSPAN1 | 14 | Apr 28, 2016 |
TSPAN12 | 1 | Apr 28, 2016 |
TSPAN31 | 3 | Jan 29, 2018 |
TTC14 | 12 | Apr 28, 2016 |
TTC21B | 39 | Apr 28, 2016 |
TTC21B-AS1 | 4 | Apr 28, 2016 |
TTC8 | 11 | Apr 28, 2016 |
TTN | 291 | Apr 28, 2016 |
TTN-AS1 | 156 | Apr 28, 2016 |
TTR | 3 | Apr 28, 2016 |
TUBA1A | 4 | Apr 28, 2016 |
TUSC3 | 1 | Apr 28, 2016 |
TWIST1 | 1 | Apr 28, 2016 |
TWNK | 5 | Apr 28, 2016 |
TYK2 | 10 | Apr 28, 2016 |
TYMP | 7 | Apr 28, 2016 |
TYR | 5 | Apr 28, 2016 |
TYRP1 | 10 | Apr 28, 2016 |
UBE3A | 2 | Apr 28, 2016 |
UBQLN2 | 1 | Apr 28, 2016 |
UBR1 | 7 | Apr 28, 2016 |
UCP2 | 2 | Apr 28, 2016 |
UGT1A | 2 | Apr 28, 2016 |
UGT1A1 | 2 | Apr 28, 2016 |
UGT1A10 | 2 | Apr 28, 2016 |
UGT1A3 | 2 | Apr 28, 2016 |
UGT1A4 | 2 | Apr 28, 2016 |
UGT1A5 | 2 | Apr 28, 2016 |
UGT1A6 | 2 | Apr 28, 2016 |
UGT1A7 | 2 | Apr 28, 2016 |
UGT1A8 | 2 | Apr 28, 2016 |
UGT1A9 | 2 | Apr 28, 2016 |
UMOD | 2 | Apr 28, 2016 |
UMPS | 3 | Apr 28, 2016 |
UNC119 | 2 | Apr 28, 2016 |
UNC13D | 43 | Apr 28, 2016 |
UROD | 2 | Apr 28, 2016 |
USH1C | 17 | Apr 28, 2016 |
USH2A | 33 | Apr 28, 2016 |
USH2A-AS1 | 1 | Apr 28, 2016 |
USH2A-AS2 | 3 | Apr 28, 2016 |
UTS2B | 1 | Apr 28, 2016 |
VANGL1 | 2 | Apr 28, 2016 |
VAPB | 2 | Apr 28, 2016 |
VCAN | 30 | Apr 28, 2016 |
VCAN-AS1 | 23 | Apr 28, 2016 |
VCL | 11 | Apr 28, 2016 |
VCP | 16 | Apr 28, 2016 |
VHL | 55 | Dec 20, 2021 |
VIPAS39 | 11 | Apr 28, 2016 |
VPS13B | 27 | Apr 28, 2016 |
VPS33B | 14 | Apr 28, 2016 |
VPS35 | 2 | Apr 28, 2016 |
VPS45 | 1 | Apr 28, 2016 |
VRK1 | 2 | Apr 28, 2016 |
VRK2 | 1 | Apr 28, 2016 |
VSX1 | 2 | Apr 28, 2016 |
VSX2 | 1 | Apr 28, 2016 |
VWF | 66 | Apr 28, 2016 |
WAS | 7 | Apr 28, 2016 |
WDPCP | 8 | Apr 28, 2016 |
WDR19 | 14 | Apr 28, 2016 |
WDR35 | 5 | Apr 28, 2016 |
WDR35-DT | 3 | Apr 28, 2016 |
WDR36 | 4 | Apr 28, 2016 |
WDR62 | 19 | Apr 28, 2016 |
WDR72 | 6 | Apr 28, 2016 |
WFS1 | 39 | Apr 28, 2016 |
WHRN | 8 | Apr 28, 2016 |
WNK1 | 15 | Apr 28, 2016 |
WNK4 | 1 | Apr 28, 2016 |
WRAP53 | 9 | Apr 28, 2016 |
WRN | 16 | Apr 28, 2016 |
WT1 | 17 | Apr 28, 2016 |
WWOX | 15 | Apr 28, 2016 |
XDH | 6 | Apr 28, 2016 |
XIAP | 1 | Apr 28, 2016 |
XPA | 1 | Apr 28, 2016 |
XPC | 19 | Mar 6, 2020 |
YARS2 | 4 | Apr 28, 2016 |
YWHAE | 2 | Apr 28, 2016 |
ZDHHC24 | 8 | Apr 28, 2016 |
ZEB2 | 2 | Apr 28, 2016 |
ZFPM2 | 10 | Apr 28, 2016 |
ZFPM2-AS1 | 9 | Apr 28, 2016 |
ZIC2 | 8 | Apr 28, 2016 |
ZIC3 | 7 | Apr 28, 2016 |
ZMPSTE24 | 3 | Apr 28, 2016 |
ZNF276 | 7 | Apr 28, 2016 |
ZNF408 | 2 | Apr 28, 2016 |
ZNF423 | 24 | Apr 28, 2016 |
ZNF627 | 3 | Apr 28, 2016 |
Condition
Name | Submissions | Last Updated |
---|---|---|
Colorectal cancer, hereditary nonpolyposis, type 4 | 1 | Jun 11, 2019 |
Developmental delay | 1 | Jun 10, 2019 |
Distinctive facial features | 1 | Jun 10, 2019 |
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 1 | Jul 7, 2021 |
Gaucher disease type I | 1 | Jun 7, 2019 |
Gaucher disease type II | 1 | Jun 7, 2019 |
Gaucher disease type III | 1 | Jun 7, 2019 |
Multiple congenital anomalies | 1 | Jun 10, 2019 |
Polycystic kidney disease, adult type | 1 | Apr 15, 2021 |
Sandhoff disease | 1 | Oct 12, 2018 |
Von Hippel-Lindau syndrome | 1 | Aug 24, 2017 |
Welander distal myopathy | 1 | May 18, 2017 |
not provided | 2287 | Dec 20, 2021 |
not specified | 16122 | Dec 20, 2021 |
Testing in GTR
Disease name | Number of tests |
---|---|
2-aminoadipic 2-oxoadipic aciduria | 1 test |
2-hydroxyglutaric aciduria | 5 tests |
3 beta-Hydroxysteroid dehydrogenase deficiency | 5 tests |
3-Methylglutaconic aciduria type 2 | 13 tests |
3-Methylglutaconic aciduria type 3 | 5 tests |
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 6 tests |
3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 5 tests |
3-methylcrotonyl-CoA carboxylase 1 deficiency | 5 tests |
3-methylcrotonyl-CoA carboxylase 2 deficiency | 5 tests |
3-methylglutaconic aciduria type 1 | 4 tests |
3-methylglutaconic aciduria type 5 | 2 tests |
3-methylglutaconic aciduria type 8 | 2 tests |
3-methylglutaconic aciduria type 9 | 1 test |
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia | 3 tests |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 5 tests |
3M syndrome 1 | 4 tests |
3M syndrome 3 | 1 test |
3MC syndrome 1 | 1 test |
3MC syndrome 2 | 1 test |
46,XX ovarian dysgenesis-short stature syndrome | 5 tests |
46,XX sex reversal 1 | 6 tests |
46,XX sex reversal 4 | 2 tests |
46,XX testicular disorder of sex development | 1 test |
46,XY disorder of sex development and 46,XY complete gonadal dysgenesis | 1 test |
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | 5 tests |
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | 2 tests |
46,XY sex reversal 1 | 2 tests |
46,XY sex reversal 2 | 3 tests |
46,XY sex reversal 3 | 5 tests |
46,XY sex reversal 5 | 4 tests |
46,XY sex reversal 6 | 6 tests |
46,XY sex reversal 7 | 6 tests |
46,XY sex reversal 9 | 6 tests |
46,xx sex reversal 5 | 2 tests |
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 2 tests |
8q24.3 microdeletion syndrome | 1 test |
ABCD syndrome | 3 tests |
ABri amyloidosis | 3 tests |
ACTH-independent macronodular adrenal hyperplasia 2 | 2 tests |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 4 tests |
ADULT syndrome | 6 tests |
ADan amyloidosis | 3 tests |
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 4 tests |
ALDH18A1-related de Barsy syndrome | 2 tests |
ALG1-CDG | 2 tests |
ALG11-CDG | 1 test |
ALG12-congenital disorder of glycosylation | 5 tests |
ALG2-CDG | 5 tests |
ALG3-CDG | 3 tests |
ALG8 congenital disorder of glycosylation | 4 tests |
ALG9 congenital disorder of glycosylation | 2 tests |
ANKRD1-related dilated cardiomyopathy | 1 test |
Aarskog syndrome | 3 tests |
Abdominal obesity-metabolic syndrome 3 | 3 tests |
Abetalipoproteinaemia | 2 tests |
Ablepharon macrostomia syndrome | 1 test |
Abnormal activity of mitochondrial respiratory chain | 1 test |
Abnormal bleeding | 1 test |
Abnormality of connective tissue | 1 test |
Abnormality of dental morphology | 1 test |
Abnormality of metabolism/homeostasis | 1 test |
Abnormality of mitochondrial metabolism | 1 test |
Abnormality of the immune system | 1 test |
Abnormality of the skeletal system | 2 tests |
Abnormality of the skin | 1 test |
Abortive cerebellar ataxia | 6 tests |
Abruzzo-Erickson syndrome | 2 tests |
Acatalasia | 1 test |
Acheiropodia | 3 tests |
Achondrogenesis type II | 12 tests |
Achondrogenesis, type IA | 2 tests |
Achondrogenesis, type IB | 5 tests |
Achondroplasia | 12 tests |
Achromatopsia | 1 test |
Achromatopsia 2 | 5 tests |
Achromatopsia 3 | 3 tests |
Achromatopsia 4 | 4 tests |
Achromatopsia 7 | 3 tests |
Acne inversa, familial, 3 | 1 test |
Acquired hemoglobin H disease | 4 tests |
Acquired partial lipodystrophy | 2 tests |
Acquired polycythemia vera | 2 tests |
Acral peeling skin syndrome | 3 tests |
Acrocallosal syndrome | 10 tests |
Acrocapitofemoral dysplasia | 3 tests |
Acrocephalosyndactyly type I | 11 tests |
Acrodysostosis | 1 test |
Acrodysostosis 1 with or without hormone resistance | 1 test |
Acrodysostosis 2 with or without hormone resistance | 6 tests |
Acrofacial dysostosis Cincinnati type | 1 test |
Acromelic frontonasal dysostosis | 2 tests |
Acromesomelic dysplasia 1, Maroteaux type | 2 tests |
Acromesomelic dysplasia 2B | 4 tests |
Acromesomelic dysplasia 2C, Hunter-Thompson type | 4 tests |
Acromesomelic dysplasia 3 | 2 tests |
Acromicric dysplasia | 12 tests |
Acroosteolysis-keloid-like lesions-premature aging syndrome | 3 tests |
Actin accumulation myopathy | 5 tests |
Action myoclonus-renal failure syndrome | 3 tests |
Aculeiform cataract | 1 test |
Acute encephalopathy | 1 test |
Acute erythroleukemia, familial | 1 test |
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 3 tests |
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 1 test |
Acute intermittent porphyria | 3 tests |
Acute lymphoid leukemia | 2 tests |
Acute myeloid leukemia | 16 tests |
Acyl-CoA dehydrogenase 9 deficiency | 7 tests |
Acyl-CoA oxidase deficiency | 5 tests |
Adams-Oliver syndrome | 2 tests |
Adams-Oliver syndrome 1 | 8 tests |
Adams-Oliver syndrome 2 | 8 tests |
Adams-Oliver syndrome 3 | 2 tests |
Adams-Oliver syndrome 4 | 4 tests |
Adams-Oliver syndrome 5 | 6 tests |
Adams-Oliver syndrome 6 | 4 tests |
Adenine phosphoribosyltransferase deficiency | 1 test |
Adenosine kinase deficiency | 3 tests |
Adenylosuccinate lyase deficiency | 6 tests |
Adrenocortical carcinoma, hereditary | 5 tests |
Adrenoleukodystrophy | 9 tests |
Adult hypophosphatasia | 7 tests |
Adult neuronal ceroid lipofuscinosis | 3 tests |
Adult polyglucosan body disease | 2 tests |
Adult-onset autosomal dominant demyelinating leukodystrophy | 2 tests |
Adult-onset foveomacular vitelliform dystrophy | 2 tests |
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | 5 tests |
Adult-onset proximal spinal muscular atrophy, autosomal dominant | 2 tests |
Advanced sleep phase syndrome 2 | 1 test |
Agammaglobulinemia | 2 tests |
Agammaglobulinemia 2, autosomal recessive | 2 tests |
Agammaglobulinemia 3, autosomal recessive | 2 tests |
Agammaglobulinemia 4, autosomal recessive | 2 tests |
Agammaglobulinemia 5, autosomal dominant | 2 tests |
Agammaglobulinemia 6, autosomal recessive | 3 tests |
Agammaglobulinemia 7, autosomal recessive | 6 tests |
Agammaglobulinemia 8, autosomal dominant | 2 tests |
Aganglionic megacolon | 2 tests |
Age related macular degeneration 1 | 2 tests |
Age related macular degeneration 11 | 1 test |
Age related macular degeneration 2 | 1 test |
Age related macular degeneration 4 | 3 tests |
Age related macular degeneration 5 | 2 tests |
Age related macular degeneration 6 | 2 tests |
Age related macular degeneration 7 | 1 test |
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | 1 test |
Agenesis of the corpus callosum with peripheral neuropathy | 3 tests |
Agnathia-otocephaly complex | 2 tests |
Aicardi-Goutieres syndrome 1 | 5 tests |
Aicardi-Goutieres syndrome 2 | 4 tests |
Aicardi-Goutieres syndrome 3 | 4 tests |
Aicardi-Goutieres syndrome 4 | 4 tests |
Aicardi-Goutieres syndrome 5 | 4 tests |
Aicardi-Goutieres syndrome 6 | 3 tests |
Aicardi-Goutieres syndrome 7 | 4 tests |
Al-Gazali syndrome | 1 test |
Alacrima, achalasia, and intellectual disability syndrome | 1 test |
Alagille syndrome due to a JAG1 point mutation | 13 tests |
Alagille syndrome due to a NOTCH2 point mutation | 11 tests |
Alazami-Yuan syndrome | 1 test |
Aldosterone-producing adenoma with seizures and neurological abnormalities | 3 tests |
Alexander disease | 4 tests |
Alkaptonuria | 1 test |
Alkuraya-Kucinskas syndrome | 5 tests |
Allan-Herndon-Dudley syndrome | 6 tests |
Alpha thalassemia-X-linked intellectual disability syndrome | 12 tests |
Alpha-1-antitrypsin deficiency | 2 tests |
Alpha-2-plasmin inhibitor deficiency | 3 tests |
Alpha-N-acetylgalactosaminidase deficiency type 1 | 1 test |
Alpha-N-acetylgalactosaminidase deficiency type 2 | 1 test |
Alpha-methylacyl-CoA racemase deficiency | 4 tests |
Alport syndrome | 4 tests |
Alstrom syndrome | 8 tests |
Alternating hemiplegia of childhood 1 | 3 tests |
Alternating hemiplegia of childhood 2 | 6 tests |
Alveolar capillary dysplasia with pulmonary venous misalignment | 4 tests |
Alveolar rhabdomyosarcoma | 3 tests |
Alzheimer disease | 6 tests |
Alzheimer disease 3 | 5 tests |
Alzheimer disease 4 | 6 tests |
Alzheimer disease 9 | 1 test |
Amaurosis-hypertrichosis syndrome | 4 tests |
Amelocerebrohypohidrotic syndrome | 3 tests |
Amelogenesis imperfecta - hypoplastic autosomal dominant - local | 2 tests |
Amelogenesis imperfecta hypomaturation type 2A2 | 2 tests |
Amelogenesis imperfecta hypomaturation type 2A3 | 2 tests |
Amelogenesis imperfecta hypomaturation type 2A4 | 2 tests |
Amelogenesis imperfecta hypomaturation type 2A5 | 1 test |
Amelogenesis imperfecta type 1A | 2 tests |
Amelogenesis imperfecta type 1C | 2 tests |
Amelogenesis imperfecta type 1E | 3 tests |
Amelogenesis imperfecta type 1G | 3 tests |
Amelogenesis imperfecta type 1H | 1 test |
Amelogenesis imperfecta type 2A1 | 2 tests |
Amelogenesis imperfecta, hypocalcification type | 2 tests |
Amelogenesis imperfecta, hypomaturation type, IIa6 | 1 test |
Aminoacylase 1 deficiency | 2 tests |
Aminoglycoside-induced deafness | 2 tests |
Amish lethal microcephaly | 2 tests |
Amyloidogenic transthyretin amyloidosis | 8 tests |
Amyotrophic lateral sclerosis type 1 | 3 tests |
Amyotrophic lateral sclerosis type 10 | 5 tests |
Amyotrophic lateral sclerosis type 11 | 5 tests |
Amyotrophic lateral sclerosis type 12 | 4 tests |
Amyotrophic lateral sclerosis type 15 | 4 tests |
Amyotrophic lateral sclerosis type 16 | 1 test |
Amyotrophic lateral sclerosis type 18 | 3 tests |
Amyotrophic lateral sclerosis type 19 | 2 tests |
Amyotrophic lateral sclerosis type 2, juvenile | 3 tests |
Amyotrophic lateral sclerosis type 20 | 4 tests |
Amyotrophic lateral sclerosis type 21 | 5 tests |
Amyotrophic lateral sclerosis type 22 | 2 tests |
Amyotrophic lateral sclerosis type 23 | 3 tests |
Amyotrophic lateral sclerosis type 4 | 4 tests |
Amyotrophic lateral sclerosis type 6 | 4 tests |
Amyotrophic lateral sclerosis type 8 | 3 tests |
Amyotrophic lateral sclerosis type 9 | 3 tests |
Amyotrophic lateral sclerosis, susceptibility to, 24 | 4 tests |
Amyotrophic lateral sclerosis, susceptibility to, 25 | 2 tests |
Anauxetic dysplasia 1 | 2 tests |
Andersen Tawil syndrome | 8 tests |
Androgen resistance syndrome | 7 tests |
Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 4 tests |
Aneurysm-osteoarthritis syndrome | 10 tests |
Angelman syndrome | 8 tests |
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome | 1 test |
Aniridia 1 | 9 tests |
Aniridia 2 | 6 tests |
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | 8 tests |
Annular epidermolytic ichthyosis | 4 tests |
Anophthalmia/microphthalmia-esophageal atresia syndrome | 14 tests |
Anterior segment dysgenesis | 4 tests |
Anterior segment dysgenesis 1 | 6 tests |
Anterior segment dysgenesis 3 | 6 tests |
Anterior segment dysgenesis 4 | 9 tests |
Anterior segment dysgenesis 6 | 1 test |
Anterior segment dysgenesis 7 | 6 tests |
Anterior segment dysgenesis 8 | 2 tests |
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 2 tests |
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | 10 tests |
Aortic aneurysm, familial thoracic 10 | 6 tests |
Aortic aneurysm, familial thoracic 11, susceptibility to | 6 tests |
Aortic aneurysm, familial thoracic 4 | 8 tests |
Aortic aneurysm, familial thoracic 6 | 8 tests |
Aortic aneurysm, familial thoracic 7 | 7 tests |
Aortic aneurysm, familial thoracic 8 | 6 tests |
Aortic aneurysm, familial thoracic 9 | 4 tests |
Aortic valve disease 1 | 7 tests |
Aortic valve disease 2 | 1 test |
Aortic valve disease 3 | 1 test |
Aplastic anemia | 4 tests |
Apparent mineralocorticoid excess | 1 test |
Arginase deficiency | 6 tests |
Arginine:glycine amidinotransferase deficiency | 3 tests |
Argininosuccinate lyase deficiency | 3 tests |
Armfield syndrome | 1 test |
Aromatase deficiency | 2 tests |
Aromatase excess syndrome | 5 tests |
Arrhinia with choanal atresia and microphthalmia syndrome | 1 test |
Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | 5 tests |
Arrhythmogenic right ventricular dysplasia 1 | 9 tests |
Arrhythmogenic right ventricular dysplasia 10 | 7 tests |
Arrhythmogenic right ventricular dysplasia 11 | 7 tests |
Arrhythmogenic right ventricular dysplasia 12 | 7 tests |
Arrhythmogenic right ventricular dysplasia 13 | 2 tests |
Arrhythmogenic right ventricular dysplasia 2 | 8 tests |
Arrhythmogenic right ventricular dysplasia 5 | 5 tests |
Arrhythmogenic right ventricular dysplasia 8 | 8 tests |
Arrhythmogenic right ventricular dysplasia 9 | 6 tests |
Arrhythmogenic right ventricular dysplasia, familial, 14 | 1 test |
Arterial calcification of infancy | 4 tests |
Arterial calcification, generalized, of infancy, 1 | 3 tests |
Arterial calcification, generalized, of infancy, 2 | 6 tests |
Arterial tortuosity syndrome | 7 tests |
Arteriohepatic dysplasia | 1 test |
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | 1 test |
Arthrogryposis multiplex congenita 2, neurogenic type | 1 test |
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum | 1 test |
Arthrogryposis, Perthes disease, and upward gaze palsy | 1 test |
Arthrogryposis, distal, type 1A | 4 tests |
Arthrogryposis, distal, type 1B | 3 tests |
Arthrogryposis, distal, type 1C | 1 test |
Arthrogryposis, distal, type 2B2 | 2 tests |
Arthrogryposis, distal, type 2B3 | 2 tests |
Arthrogryposis, renal dysfunction, and cholestasis 1 | 2 tests |
Arthrogryposis, renal dysfunction, and cholestasis 2 | 2 tests |
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 2 tests |
Arts syndrome | 3 tests |
Aspartylglucosaminuria | 3 tests |
Asperger syndrome, X-linked, susceptibility to, 1 | 3 tests |
Asperger syndrome, X-linked, susceptibility to, 2 | 3 tests |
Asphyxiating thoracic dystrophy 2 | 4 tests |
Asphyxiating thoracic dystrophy 3 | 9 tests |
Asphyxiating thoracic dystrophy 4 | 3 tests |
Asphyxiating thoracic dystrophy 5 | 2 tests |
Ataxia | 1 test |
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 2 tests |
Ataxia - oculomotor apraxia type 4 | 1 test |
Ataxia with oculomotor apraxia type 3 | 1 test |
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 5 tests |
Ataxia-pancytopenia syndrome | 4 tests |
Ataxia-telangiectasia syndrome | 14 tests |
Ataxia-telangiectasia-like disorder | 7 tests |
Ataxia-telangiectasia-like disorder 1 | 1 test |
Atelosteogenesis type I | 2 tests |
Atelosteogenesis type II | 6 tests |
Atelosteogenesis type III | 2 tests |
Atopic dermatitis 2 | 1 test |
Atrial conduction disease | 1 test |
Atrial fibrillation, familial, 10 | 6 tests |
Atrial fibrillation, familial, 11 | 4 tests |
Atrial fibrillation, familial, 12 | 7 tests |
Atrial fibrillation, familial, 13 | 2 tests |
Atrial fibrillation, familial, 14 | 5 tests |
Atrial fibrillation, familial, 18 | 2 tests |
Atrial fibrillation, familial, 3 | 6 tests |
Atrial fibrillation, familial, 4 | 4 tests |
Atrial fibrillation, familial, 6 | 5 tests |
Atrial fibrillation, familial, 7 | 6 tests |
Atrial fibrillation, familial, 9 | 6 tests |
Atrial septal defect 2 | 7 tests |
Atrial septal defect 3 | 5 tests |
Atrial septal defect 4 | 1 test |
Atrial septal defect 5 | 5 tests |
Atrial septal defect 6 | 1 test |
Atrial septal defect 7 | 6 tests |
Atrial septal defect 8 | 1 test |
Atrial septal defect 9 | 4 tests |
Atrial standstill 2 | 1 test |
Atrioventricular septal defect 3 | 5 tests |
Atrioventricular septal defect 4 | 7 tests |
Atrioventricular septal defect 5 | 4 tests |
Atrioventricular septal defect, susceptibility to, 2 | 2 tests |
Atrophia bulborum hereditaria | 9 tests |
Atypical Gaucher disease due to saposin C deficiency | 1 test |
Atypical glycine encephalopathy | 2 tests |
Auditory neuropathy-optic atrophy syndrome | 3 tests |
Aural atresia, congenital | 1 test |
Autism spectrum disorder | 1 test |
Autism spectrum disorder due to AUTS2 deficiency | 4 tests |
Autism, susceptibility to, 15 | 2 tests |
Autism, susceptibility to, 17 | 2 tests |
Autism, susceptibility to, 18 | 5 tests |
Autism, susceptibility to, 20 | 1 test |
Autism, susceptibility to, 5 | 2 tests |
Autism, susceptibility to, X-linked 1 | 3 tests |
Autism, susceptibility to, X-linked 2 | 4 tests |
Autism, susceptibility to, X-linked 3 | 5 tests |
Autism, susceptibility to, X-linked 4 | 3 tests |
Autism, susceptibility to, X-linked 5 | 1 test |
Autistic disorder | 3 tests |
Autoimmune disease, multisystem, infantile-onset, 2 | 1 test |
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | 3 tests |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | 3 tests |
Autoimmune lymphoproliferative syndrome type 1 | 3 tests |
Autoimmune lymphoproliferative syndrome type 2A | 2 tests |
Autoimmune lymphoproliferative syndrome type 2B | 2 tests |
Autoimmune lymphoproliferative syndrome type 4 | 8 tests |
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD | 3 tests |
Autoinflammation with episodic fever and lymphadenopathy | 1 test |
Autoinflammation, immune dysregulation, and eosinophilia | 1 test |
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 2 tests |
Autosomal dominant Alport syndrome | 4 tests |
Autosomal dominant Charcot-Marie-Tooth disease type 2W | 1 test |
Autosomal dominant Kenny-Caffey syndrome | 4 tests |
Autosomal dominant Opitz G/BBB syndrome | 7 tests |
Autosomal dominant Parkinson disease 1 | 3 tests |
Autosomal dominant Parkinson disease 4 | 3 tests |
Autosomal dominant Parkinson disease 8 | 3 tests |
Autosomal dominant Robinow syndrome 1 | 4 tests |
Autosomal dominant Robinow syndrome 2 | 1 test |
Autosomal dominant Robinow syndrome 3 | 1 test |
Autosomal dominant aplasia and myelodysplasia | 5 tests |
Autosomal dominant auditory neuropathy 1 | 1 test |
Autosomal dominant centronuclear myopathy | 3 tests |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 5 tests |
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 3 tests |
Autosomal dominant congenital benign spinal muscular atrophy | 2 tests |
Autosomal dominant distal renal tubular acidosis | 4 tests |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 6 tests |
Autosomal dominant hypocalcemia 1 | 4 tests |
Autosomal dominant hypocalcemia 2 | 2 tests |
Autosomal dominant hypophosphatemic rickets | 3 tests |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 3 tests |
Autosomal dominant keratitis | 4 tests |
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | 3 tests |
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 4 tests |
Autosomal dominant limb-girdle muscular dystrophy type 1F | 3 tests |
Autosomal dominant limb-girdle muscular dystrophy type 1G | 3 tests |
Autosomal dominant macrothrombocytopenia TUBB1-related | 3 tests |
Autosomal dominant medullary cystic kidney disease with hyperuricemia | 2 tests |
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | 1 test |
Autosomal dominant mitochondrial myopathy with exercise intolerance | 1 test |
Autosomal dominant nocturnal frontal lobe epilepsy 1 | 1 test |
Autosomal dominant nocturnal frontal lobe epilepsy 3 | 1 test |
Autosomal dominant nocturnal frontal lobe epilepsy 4 | 1 test |
Autosomal dominant nocturnal frontal lobe epilepsy 5 | 1 test |
Autosomal dominant nonsyndromic hearing loss 1 | 2 tests |
Autosomal dominant nonsyndromic hearing loss 10 | 3 tests |
Autosomal dominant nonsyndromic hearing loss 11 | 1 test |
Autosomal dominant nonsyndromic hearing loss 12 | 2 tests |
Autosomal dominant nonsyndromic hearing loss 13 | 5 tests |
Autosomal dominant nonsyndromic hearing loss 15 | 2 tests |
Autosomal dominant nonsyndromic hearing loss 17 | 3 tests |
Autosomal dominant nonsyndromic hearing loss 20 | 3 tests |
Autosomal dominant nonsyndromic hearing loss 22 | 4 tests |
Autosomal dominant nonsyndromic hearing loss 23 | 1 test |
Autosomal dominant nonsyndromic hearing loss 25 | 2 tests |
Autosomal dominant nonsyndromic hearing loss 27 | 1 test |
Autosomal dominant nonsyndromic hearing loss 28 | 2 tests |
Autosomal dominant nonsyndromic hearing loss 2A | 2 tests |
Autosomal dominant nonsyndromic hearing loss 2B | 2 tests |
Autosomal dominant nonsyndromic hearing loss 36 | 2 tests |
Autosomal dominant nonsyndromic hearing loss 3A | 3 tests |
Autosomal dominant nonsyndromic hearing loss 3B | 2 tests |
Autosomal dominant nonsyndromic hearing loss 40 | 2 tests |
Autosomal dominant nonsyndromic hearing loss 41 | 1 test |
Autosomal dominant nonsyndromic hearing loss 44 | 2 tests |
Autosomal dominant nonsyndromic hearing loss 4A | 3 tests |
Autosomal dominant nonsyndromic hearing loss 4B | 2 tests |
Autosomal dominant nonsyndromic hearing loss 5 | 1 test |
Autosomal dominant nonsyndromic hearing loss 50 | 1 test |
Autosomal dominant nonsyndromic hearing loss 51 | 1 test |
Autosomal dominant nonsyndromic hearing loss 56 | 1 test |
Autosomal dominant nonsyndromic hearing loss 6 | 5 tests |
Autosomal dominant nonsyndromic hearing loss 64 | 2 tests |
Autosomal dominant nonsyndromic hearing loss 65 | 4 tests |
Autosomal dominant nonsyndromic hearing loss 66 | 1 test |
Autosomal dominant nonsyndromic hearing loss 67 | 1 test |
Autosomal dominant nonsyndromic hearing loss 68 | 1 test |
Autosomal dominant nonsyndromic hearing loss 69 | 2 tests |
Autosomal dominant nonsyndromic hearing loss 70 | 1 test |
Autosomal dominant nonsyndromic hearing loss 9 | 2 tests |
Autosomal dominant optic atrophy classic form | 9 tests |
Autosomal dominant osteopetrosis 1 | 6 tests |
Autosomal dominant osteopetrosis 2 | 2 tests |
Autosomal dominant palmoplantar keratoderma and congenital alopecia | 3 tests |
Autosomal dominant polycystic kidney disease | 7 tests |
Autosomal dominant pseudohypoaldosteronism type 1 | 2 tests |
Autosomal dominant sensory ataxia 1 | 1 test |
Autosomal dominant striatal neurodegeneration type 1 | 1 test |
Autosomal dominant vitreoretinochoroidopathy | 7 tests |
Autosomal recessive Alport syndrome | 5 tests |
Autosomal recessive DOPA responsive dystonia | 4 tests |
Autosomal recessive Kenny-Caffey syndrome | 3 tests |
Autosomal recessive Parkinson disease 14 | 3 tests |
Autosomal recessive Robinow syndrome | 8 tests |
Autosomal recessive agammaglobulinemia 1 | 2 tests |
Autosomal recessive amelia | 1 test |
Autosomal recessive ataxia due to ubiquinone deficiency | 3 tests |
Autosomal recessive ataxia, Beauce type | 1 test |
Autosomal recessive axonal neuropathy with neuromyotonia | 3 tests |
Autosomal recessive bestrophinopathy | 8 tests |
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 1 test |
Autosomal recessive complex spastic paraplegia type 9B | 6 tests |
Autosomal recessive congenital ichthyosis 1 | 3 tests |
Autosomal recessive congenital ichthyosis 10 | 3 tests |
Autosomal recessive congenital ichthyosis 11 | 2 tests |
Autosomal recessive congenital ichthyosis 2 | 3 tests |
Autosomal recessive congenital ichthyosis 3 | 3 tests |
Autosomal recessive congenital ichthyosis 4A | 5 tests |
Autosomal recessive congenital ichthyosis 4B | 4 tests |
Autosomal recessive congenital ichthyosis 5 | 3 tests |
Autosomal recessive congenital ichthyosis 6 | 3 tests |
Autosomal recessive congenital ichthyosis 8 | 2 tests |
Autosomal recessive congenital ichthyosis 9 | 2 tests |
Autosomal recessive cutis laxa type 2B | 4 tests |
Autosomal recessive cutis laxa type 2C | 2 tests |
Autosomal recessive cutis laxa type 2D | 2 tests |
Autosomal recessive distal renal tubular acidosis | 3 tests |
Autosomal recessive distal spinal muscular atrophy 1 | 2 tests |
Autosomal recessive early-onset Parkinson disease 23 | 2 tests |
Autosomal recessive early-onset Parkinson disease 6 | 3 tests |
Autosomal recessive early-onset Parkinson disease 7 | 3 tests |
Autosomal recessive hypophosphatemic bone disease | 5 tests |
Autosomal recessive juvenile Parkinson disease 2 | 3 tests |
Autosomal recessive keratitis-ichthyosis-deafness syndrome | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2A | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2B | 4 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2D | 4 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2E | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2F | 4 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2G | 6 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2I | 7 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2J | 4 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2K | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2L | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2M | 5 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2N | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2O | 4 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2P | 5 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2Q | 6 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2R | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2S | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2T | 7 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2U | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2W | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2X | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2Y | 2 tests |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | 1 test |
Autosomal recessive multiple pterygium syndrome | 5 tests |
Autosomal recessive nonsyndromic hearing loss 101 | 1 test |
Autosomal recessive nonsyndromic hearing loss 102 | 1 test |
Autosomal recessive nonsyndromic hearing loss 103 | 1 test |
Autosomal recessive nonsyndromic hearing loss 104 | 1 test |
Autosomal recessive nonsyndromic hearing loss 12 | 1 test |
Autosomal recessive nonsyndromic hearing loss 15 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 16 | 3 tests |
Autosomal recessive nonsyndromic hearing loss 18A | 1 test |
Autosomal recessive nonsyndromic hearing loss 18B | 1 test |
Autosomal recessive nonsyndromic hearing loss 1A | 5 tests |
Autosomal recessive nonsyndromic hearing loss 1B | 2 tests |
Autosomal recessive nonsyndromic hearing loss 2 | 1 test |
Autosomal recessive nonsyndromic hearing loss 21 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 22 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 23 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 24 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 25 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 28 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 29 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 3 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 30 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 31 | 1 test |
Autosomal recessive nonsyndromic hearing loss 32 | 1 test |
Autosomal recessive nonsyndromic hearing loss 35 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 36 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 37 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 39 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 4 | 5 tests |
Autosomal recessive nonsyndromic hearing loss 42 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 44 | 1 test |
Autosomal recessive nonsyndromic hearing loss 48 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 49 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 53 | 4 tests |
Autosomal recessive nonsyndromic hearing loss 59 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 6 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 61 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 63 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 66 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 67 | 3 tests |
Autosomal recessive nonsyndromic hearing loss 68 | 1 test |
Autosomal recessive nonsyndromic hearing loss 7 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 70 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 74 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 76 | 1 test |
Autosomal recessive nonsyndromic hearing loss 77 | 3 tests |
Autosomal recessive nonsyndromic hearing loss 79 | 1 test |
Autosomal recessive nonsyndromic hearing loss 8 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 84A | 1 test |
Autosomal recessive nonsyndromic hearing loss 84B | 1 test |
Autosomal recessive nonsyndromic hearing loss 86 | 4 tests |
Autosomal recessive nonsyndromic hearing loss 88 | 1 test |
Autosomal recessive nonsyndromic hearing loss 89 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 9 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 91 | 2 tests |
Autosomal recessive nonsyndromic hearing loss 93 | 1 test |
Autosomal recessive nonsyndromic hearing loss 97 | 1 test |
Autosomal recessive nonsyndromic hearing loss 98 | 1 test |
Autosomal recessive omodysplasia | 1 test |
Autosomal recessive optic atrophy, OPA7 type | 4 tests |
Autosomal recessive osteopetrosis 1 | 3 tests |
Autosomal recessive osteopetrosis 2 | 2 tests |
Autosomal recessive osteopetrosis 4 | 2 tests |
Autosomal recessive osteopetrosis 5 | 2 tests |
Autosomal recessive osteopetrosis 7 | 2 tests |
Autosomal recessive osteopetrosis 8 | 2 tests |
Autosomal recessive polycystic kidney disease | 6 tests |
Autosomal recessive proximal renal tubular acidosis | 3 tests |
Autosomal recessive pseudohypoaldosteronism type 1 | 4 tests |
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | 2 tests |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 4 tests |
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | 1 test |
Autosomal recessive spastic paraplegia type 76 | 4 tests |
Autosomal recessive spastic paraplegia type 78 | 4 tests |
Autosomal recessive spinocerebellar ataxia 10 | 1 test |
Autosomal recessive spinocerebellar ataxia 12 | 3 tests |
Autosomal recessive spinocerebellar ataxia 14 | 1 test |
Autosomal recessive spinocerebellar ataxia 7 | 1 test |
Avascular necrosis of femoral head, primary, 1 | 10 tests |
Avellino corneal dystrophy | 2 tests |
Axenfeld-Rieger syndrome | 1 test |
Axenfeld-Rieger syndrome type 1 | 11 tests |
Axenfeld-Rieger syndrome type 3 | 6 tests |
Axial spondylometaphyseal dysplasia | 3 tests |
Ayme-Gripp syndrome | 5 tests |
Azorean disease | 1 test |
B4GALT1-CDG | 1 test |
BAP1-related tumor predisposition syndrome | 4 tests |
BENTA disease | 1 test |
BLOOD GROUP--LUTHERAN INHIBITOR | 2 tests |
BLOOD GROUP--OK | 1 test |
BNAR syndrome | 4 tests |
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 | 1 test |
Bailey-Bloch congenital myopathy | 4 tests |
Baller-Gerold syndrome | 6 tests |
Bamforth-Lazarus syndrome | 3 tests |
Band heterotopia of brain | 2 tests |
Bannayan-Riley-Ruvalcaba syndrome | 10 tests |
Baraitser-Winter syndrome 1 | 8 tests |
Baraitser-winter syndrome 2 | 6 tests |
Barber-Say syndrome | 3 tests |
Bardet-Biedl syndrome | 15 tests |
Bardet-Biedl syndrome 1 | 5 tests |
Bardet-Biedl syndrome 10 | 10 tests |
Bardet-Biedl syndrome 11 | 8 tests |
Bardet-Biedl syndrome 12 | 10 tests |
Bardet-Biedl syndrome 13 | 10 tests |
Bardet-Biedl syndrome 14 | 6 tests |
Bardet-Biedl syndrome 15 | 6 tests |
Bardet-Biedl syndrome 16 | 5 tests |
Bardet-Biedl syndrome 17 | 6 tests |
Bardet-Biedl syndrome 18 | 6 tests |
Bardet-Biedl syndrome 19 | 7 tests |
Bardet-Biedl syndrome 2 | 9 tests |
Bardet-Biedl syndrome 20 | 6 tests |
Bardet-Biedl syndrome 22 | 1 test |
Bardet-Biedl syndrome 3 | 4 tests |
Bardet-Biedl syndrome 4 | 10 tests |
Bardet-Biedl syndrome 5 | 10 tests |
Bardet-Biedl syndrome 6 | 3 tests |
Bardet-Biedl syndrome 7 | 10 tests |
Bardet-Biedl syndrome 8 | 8 tests |
Bardet-Biedl syndrome 9 | 10 tests |
Bardet-biedl syndrome 21 | 4 tests |
Bartsocas-Papas syndrome | 7 tests |
Bartter disease type 1 | 3 tests |
Bartter disease type 2 | 3 tests |
Bartter disease type 4a | 4 tests |
Basal cell carcinoma, susceptibility to, 1 | 4 tests |
Basal cell carcinoma, susceptibility to, 7 | 4 tests |
Basal ganglia calcification, idiopathic, 4 | 5 tests |
Basal ganglia calcification, idiopathic, 5 | 3 tests |
Basal ganglia calcification, idiopathic, 6 | 2 tests |
Basal ganglia calcification, idiopathic, 7, autosomal recessive | 1 test |
Basal laminar drusen | 2 tests |
Basan syndrome | 1 test |
Beare-Stevenson cutis gyrata syndrome | 6 tests |
Becker muscular dystrophy | 4 tests |
Beckwith-Wiedemann syndrome | 12 tests |
Benign concentric annular macular dystrophy | 2 tests |
Benign familial hematuria | 2 tests |
Benign hereditary chorea | 2 tests |
Benign recurrent intrahepatic cholestasis type 1 | 3 tests |
Benign recurrent intrahepatic cholestasis type 2 | 3 tests |
Benign scapuloperoneal muscular dystrophy with cardiomyopathy | 9 tests |
Bernard Soulier syndrome | 8 tests |
Bernard-Soulier syndrome, type A2, autosomal dominant | 4 tests |
Beta-D-mannosidosis | 2 tests |
Beta-hydroxyisobutyryl-CoA deacylase deficiency | 4 tests |
Beta-thalassemia-X-linked thrombocytopenia syndrome | 3 tests |
Bethlem myopathy 1 | 7 tests |
Bethlem myopathy 2 | 7 tests |
Bietti crystalline corneoretinal dystrophy | 3 tests |
Bifunctional peroxisomal enzyme deficiency | 5 tests |
Bilateral frontoparietal polymicrogyria | 5 tests |
Bilateral microtia-deafness-cleft palate syndrome | 1 test |
Bilateral parasagittal parieto-occipital polymicrogyria | 3 tests |
Bile acid malabsorption, primary | 2 tests |
Bilirubin, serum level of, quantitative trait locus 1 | 2 tests |
Biotin-responsive basal ganglia disease | 6 tests |
Biotinidase deficiency | 3 tests |
Blau syndrome | 3 tests |
Bleeding diathesis due to thromboxane synthesis deficiency | 3 tests |
Bleeding disorder, platelet-type, 21 | 1 test |
Bleeding disorder, platelet-type, 22 | 2 tests |
Blepharocheilodontic syndrome 1 | 4 tests |
Blepharocheilodontic syndrome 2 | 1 test |
Blepharophimosis - intellectual disability syndrome, MKB type | 10 tests |
Blepharophimosis - intellectual disability syndrome, SBBYS type | 3 tests |
Blepharophimosis, ptosis, and epicanthus inversus syndrome | 6 tests |
Bloom syndrome | 6 tests |
Body mass index quantitative trait locus 12 | 2 tests |
Body mass index quantitative trait locus 18 | 1 test |
Body mass index quantitative trait locus 4 | 1 test |
Body mass index quantitative trait locus 9 | 1 test |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | 4 tests |
Bohring-Opitz syndrome | 4 tests |
Bone fragility with contractures, arterial rupture, and deafness | 3 tests |
Bone marrow failure syndrome 3 | 3 tests |
Bone marrow failure syndrome 4 | 1 test |
Bone marrow failure syndrome 5 | 2 tests |
Bone mineral density quantitative trait locus 1 | 2 tests |
Bone mineral density quantitative trait locus 16 | 1 test |
Bone mineral density quantitative trait locus 18 | 5 tests |
Bone osteosarcoma | 3 tests |
Boomerang dysplasia | 2 tests |
Borjeson-Forssman-Lehmann syndrome | 7 tests |
Bosch-Boonstra-Schaaf optic atrophy syndrome | 4 tests |
Bothnia retinal dystrophy | 6 tests |
Brachydactyly type A1 | 4 tests |
Brachydactyly type A1C | 3 tests |
Brachydactyly type A1D | 2 tests |
Brachydactyly type A2 | 7 tests |
Brachydactyly type B1 | 5 tests |
Brachydactyly type B2 | 6 tests |
Brachydactyly type C | 5 tests |
Brachydactyly type D | 6 tests |
Brachydactyly type E1 | 6 tests |
Brachydactyly type E2 | 1 test |
Brachydactyly-arterial hypertension syndrome | 4 tests |
Brachydactyly-elbow wrist dysplasia syndrome | 3 tests |
Brachydactyly-syndactyly syndrome | 6 tests |
Brachyolmia-amelogenesis imperfecta syndrome | 5 tests |
Brachyrachia (short spine dysplasia) | 1 test |
Bradyopsia | 4 tests |
Brain abnormalities, neurodegeneration, and dysosteosclerosis | 2 tests |
Brain small vessel disease 1 with or without ocular anomalies | 13 tests |
Brain small vessel disease 3 | 4 tests |
Brain-lung-thyroid syndrome | 5 tests |
Branched-chain keto acid dehydrogenase kinase deficiency | 3 tests |
Branchiooculofacial syndrome | 5 tests |
Branchiootic syndrome 1 | 6 tests |
Branchiootic syndrome 3 | 4 tests |
Branchiootorenal syndrome 1 | 5 tests |
Branchiootorenal syndrome 2 | 4 tests |
Breast-ovarian cancer, familial, susceptibility to, 1 | 12 tests |
Breast-ovarian cancer, familial, susceptibility to, 2 | 16 tests |
Breast-ovarian cancer, familial, susceptibility to, 3 | 6 tests |
Breast-ovarian cancer, familial, susceptibility to, 4 | 8 tests |
Brittle cornea syndrome 1 | 5 tests |
Brittle cornea syndrome 2 | 6 tests |
Brody myopathy | 2 tests |
Bronchiectasis with or without elevated sweat chloride 1 | 3 tests |
Brooke-Spiegler syndrome | 1 test |
Brown-Vialetto-van Laere syndrome 1 | 4 tests |
Brown-Vialetto-van Laere syndrome 2 | 4 tests |
Bruck syndrome 2 | 5 tests |
Brugada syndrome | 2 tests |
Brugada syndrome 1 | 7 tests |
Brugada syndrome 2 | 5 tests |
Brugada syndrome 3 | 5 tests |
Brugada syndrome 4 | 6 tests |
Brugada syndrome 5 | 3 tests |
Brugada syndrome 6 | 5 tests |
Brugada syndrome 7 | 5 tests |
Brugada syndrome 8 | 4 tests |
Brugada syndrome 9 | 5 tests |
Brunner syndrome | 4 tests |
Bryant-Li-Bhoj neurodevelopmental syndrome 2 | 1 test |
Budd-Chiari syndrome | 2 tests |
Bullous ichthyosiform erythroderma | 3 tests |
C1 inhibitor deficiency | 1 test |
CADDS | 1 test |
CARASIL syndrome | 6 tests |
CBL-related disorder | 9 tests |
CCDC115-CDG | 1 test |
CEDNIK syndrome | 2 tests |
CHARGE association | 21 tests |
CHIME syndrome | 2 tests |
CIDEC-related familial partial lipodystrophy | 2 tests |
CK syndrome | 4 tests |
CLAPO syndrome | 3 tests |
CLOVES syndrome | 3 tests |
COACH syndrome | 3 tests |
COACH syndrome 1 | 3 tests |
COACH syndrome 2 | 2 tests |
CODAS syndrome | 3 tests |
COG1 congenital disorder of glycosylation | 1 test |
COG4-CDG | 2 tests |
COG5-CDG | 2 tests |
COG6-CGD | 2 tests |
COG7 congenital disorder of glycosylation | 1 test |
COG8-CDG | 1 test |
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY | 1 test |
Café-au-lait macules with pulmonary stenosis | 8 tests |
Calvarial doughnut lesions-bone fragility syndrome | 1 test |
Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 12 tests |
Camptomelic dysplasia | 12 tests |
Camptosynpolydactyly, complex | 4 tests |
Cancer of cervix | 4 tests |
Capillary infantile hemangioma | 1 test |
Capillary malformation-arteriovenous malformation 1 | 3 tests |
Capillary malformation-arteriovenous malformation 2 | 2 tests |
Carcinoid tumor of intestine | 4 tests |
Carcinoma of cervix | 2 tests |
Carcinoma of colon | 5 tests |
Carcinoma of pancreas | 9 tests |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 5 tests |
Cardiac arrhythmia, ankyrin-B-related | 7 tests |
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 5 tests |
Cardiac valvular dysplasia, X-linked | 12 tests |
Cardiac, facial, and digital anomalies with developmental delay | 1 test |
Cardiac-urogenital syndrome | 3 tests |
Cardio-facio-cutaneous syndrome | 2 tests |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 7 tests |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 5 tests |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | 3 tests |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 3 tests |
Cardiofaciocutaneous syndrome 1 | 7 tests |
Cardiofaciocutaneous syndrome 2 | 11 tests |
Cardiofaciocutaneous syndrome 3 | 7 tests |
Cardiofaciocutaneous syndrome 4 | 7 tests |
Cardiomyopathy | 1 test |
Cardiomyopathy, dilated, 2c | 2 tests |
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | 1 test |
Cardiomyopathy, familial hypertrophic 27 | 3 tests |
Cardiomyopathy, familial restrictive, 1 | 3 tests |
Cardiomyopathy, familial restrictive, 3 | 2 tests |
Cardiomyopathy-hypotonia-lactic acidosis syndrome | 3 tests |
Carney complex - trismus - pseudocamptodactyly syndrome | 2 tests |
Carney complex, type 1 | 5 tests |
Carney-Stratakis syndrome | 7 tests |
Carnitine acylcarnitine translocase deficiency | 7 tests |
Carnitine palmitoyl transferase 1A deficiency | 5 tests |
Carnitine palmitoyl transferase II deficiency, myopathic form | 6 tests |
Carnitine palmitoyl transferase II deficiency, neonatal form | 5 tests |
Carnitine palmitoyl transferase II deficiency, severe infantile form | 6 tests |
Carpal tunnel syndrome 1 | 1 test |
Carpenter syndrome | 1 test |
Cataract | 2 tests |
Cataract 1 multiple types | 5 tests |
Cataract 10 multiple types | 4 tests |
Cataract 11 multiple types | 6 tests |
Cataract 12 multiple types | 3 tests |
Cataract 13 with adult I phenotype | 3 tests |
Cataract 14 multiple types | 4 tests |
Cataract 15 multiple types | 4 tests |
Cataract 16 multiple types | 3 tests |
Cataract 17 multiple types | 4 tests |
Cataract 18 | 3 tests |
Cataract 19 multiple types | 4 tests |
Cataract 20 multiple types | 3 tests |
Cataract 21 multiple types | 6 tests |
Cataract 22 multiple types | 4 tests |
Cataract 23 | 5 tests |
Cataract 3 multiple types | 4 tests |
Cataract 30 | 3 tests |
Cataract 31 multiple types | 4 tests |
Cataract 33 | 4 tests |
Cataract 34 multiple types | 5 tests |
Cataract 36 | 3 tests |
Cataract 38 | 7 tests |
Cataract 39 multiple types | 4 tests |
Cataract 4 multiple types | 2 tests |
Cataract 40 | 7 tests |
Cataract 41 | 6 tests |
Cataract 42 | 1 test |
Cataract 43 | 1 test |
Cataract 44 | 1 test |
Cataract 45 | 2 tests |
Cataract 46 juvenile-onset | 1 test |
Cataract 5 multiple types | 3 tests |
Cataract 6 multiple types | 4 tests |
Cataract 9 multiple types | 4 tests |
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | 2 tests |
Catecholaminergic polymorphic ventricular tachycardia | 3 tests |
Catecholaminergic polymorphic ventricular tachycardia 1 | 4 tests |
Catecholaminergic polymorphic ventricular tachycardia 2 | 5 tests |
Catecholaminergic polymorphic ventricular tachycardia 3 | 1 test |
Catecholaminergic polymorphic ventricular tachycardia 4 | 5 tests |
Catecholaminergic polymorphic ventricular tachycardia 5 | 5 tests |
Catel-Manzke syndrome | 1 test |
Caudal duplication | 1 test |
Celiac disease, susceptibility to, 3 | 2 tests |
Cenani-Lenz syndactyly syndrome | 5 tests |
Central core myopathy | 6 tests |
Central precocious puberty | 1 test |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | 4 tests |
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | 3 tests |
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 5 tests |
Cerebellar ataxia-hypogonadism syndrome | 2 tests |
Cerebellar atrophy, developmental delay, and seizures | 2 tests |
Cerebellar atrophy, visual impairment, and psychomotor retardation; | 4 tests |
Cerebellar, ocular, craniofacial, and genital syndrome | 2 tests |
Cerebral amyloid angiopathy, APP-related | 2 tests |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 4 tests |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 5 tests |
Cerebral arteriovenous malformation | 6 tests |
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | 3 tests |
Cerebral cavernous malformation | 4 tests |
Cerebral cavernous malformation 2 | 4 tests |
Cerebral cavernous malformation 3 | 3 tests |
Cerebral folate transport deficiency | 7 tests |
Cerebral palsy, spastic quadriplegic, 2 | 2 tests |
Cerebrooculofacioskeletal syndrome 1 | 3 tests |
Cerebrooculofacioskeletal syndrome 2 | 3 tests |
Cerebrooculofacioskeletal syndrome 3 | 3 tests |
Cerebrooculofacioskeletal syndrome 4 | 4 tests |
Cerebroretinal microangiopathy with calcifications and cysts 1 | 5 tests |
Cerebroretinal microangiopathy with calcifications and cysts 2 | 2 tests |
Cernunnos-XLF deficiency | 1 test |
Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | 4 tests |
Ceroid lipofuscinosis, neuronal, 6A | 4 tests |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 3 tests |
Char syndrome | 3 tests |
Charcot-Marie-Tooth disease X-linked dominant 1 | 4 tests |
Charcot-Marie-Tooth disease X-linked dominant 6 | 5 tests |
Charcot-Marie-Tooth disease X-linked recessive 4 | 5 tests |
Charcot-Marie-Tooth disease X-linked recessive 5 | 7 tests |
Charcot-Marie-Tooth disease axonal type 2C | 7 tests |
Charcot-Marie-Tooth disease axonal type 2CC | 2 tests |
Charcot-Marie-Tooth disease axonal type 2F | 5 tests |
Charcot-Marie-Tooth disease axonal type 2K | 4 tests |
Charcot-Marie-Tooth disease axonal type 2L | 6 tests |
Charcot-Marie-Tooth disease axonal type 2N | 4 tests |
Charcot-Marie-Tooth disease axonal type 2O | 6 tests |
Charcot-Marie-Tooth disease axonal type 2P | 3 tests |
Charcot-Marie-Tooth disease axonal type 2Q | 4 tests |
Charcot-Marie-Tooth disease axonal type 2S | 3 tests |
Charcot-Marie-Tooth disease axonal type 2T | 1 test |
Charcot-Marie-Tooth disease axonal type 2U | 4 tests |
Charcot-Marie-Tooth disease axonal type 2V | 1 test |
Charcot-Marie-Tooth disease dominant intermediate B | 5 tests |
Charcot-Marie-Tooth disease dominant intermediate C | 4 tests |
Charcot-Marie-Tooth disease dominant intermediate D | 4 tests |
Charcot-Marie-Tooth disease dominant intermediate E | 5 tests |
Charcot-Marie-Tooth disease dominant intermediate F | 5 tests |
Charcot-Marie-Tooth disease recessive intermediate A | 4 tests |
Charcot-Marie-Tooth disease recessive intermediate B | 7 tests |
Charcot-Marie-Tooth disease recessive intermediate C | 4 tests |
Charcot-Marie-Tooth disease recessive intermediate D | 6 tests |
Charcot-Marie-Tooth disease type 1B | 5 tests |
Charcot-Marie-Tooth disease type 1C | 4 tests |
Charcot-Marie-Tooth disease type 1D | 2 tests |
Charcot-Marie-Tooth disease type 1F | 5 tests |
Charcot-Marie-Tooth disease type 2 | 1 test |
Charcot-Marie-Tooth disease type 2A1 | 1 test |
Charcot-Marie-Tooth disease type 2A2 | 8 tests |
Charcot-Marie-Tooth disease type 2B | 5 tests |
Charcot-Marie-Tooth disease type 2B1 | 8 tests |
Charcot-Marie-Tooth disease type 2B2 | 3 tests |
Charcot-Marie-Tooth disease type 2D | 6 tests |
Charcot-Marie-Tooth disease type 2E | 5 tests |
Charcot-Marie-Tooth disease type 2I | 5 tests |
Charcot-Marie-Tooth disease type 2J | 5 tests |
Charcot-Marie-Tooth disease type 2R | 4 tests |
Charcot-Marie-Tooth disease type 2Y | 3 tests |
Charcot-Marie-Tooth disease type 4A | 4 tests |
Charcot-Marie-Tooth disease type 4B1 | 5 tests |
Charcot-Marie-Tooth disease type 4B2 | 7 tests |
Charcot-Marie-Tooth disease type 4B3 | 7 tests |
Charcot-Marie-Tooth disease type 4C | 5 tests |
Charcot-Marie-Tooth disease type 4D | 5 tests |
Charcot-Marie-Tooth disease type 4F | 6 tests |
Charcot-Marie-Tooth disease type 4G | 1 test |
Charcot-Marie-Tooth disease type 4H | 4 tests |
Charcot-Marie-Tooth disease type 4J | 9 tests |
Charcot-Marie-Tooth disease type 4K | 2 tests |
Charcot-Marie-Tooth disease, axonal, Type 2HH | 1 test |
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 2 tests |
Charcot-Marie-Tooth disease, axonal, type 2EE | 3 tests |
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 4 tests |
Charcot-Marie-Tooth disease, type IA | 4 tests |
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome | 4 tests |
Charlevoix-Saguenay spastic ataxia | 3 tests |
Chilblain lupus 1 | 1 test |
Child syndrome | 5 tests |
Childhood apraxia of speech | 1 test |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 4 tests |
Childhood hypophosphatasia | 7 tests |
Childhood onset GLUT1 deficiency syndrome 2 | 5 tests |
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | 1 test |
Cholestanol storage disease | 10 tests |
Cholestasis, intrahepatic, of pregnancy, 1 | 2 tests |
Cholestasis, intrahepatic, of pregnancy, 3 | 2 tests |
Cholestasis, progressive familial intrahepatic, 4 | 3 tests |
Cholestasis, progressive familial intrahepatic, 5 | 2 tests |
Chondrocalcinosis 2 | 1 test |
Chondrodysplasia Blomstrand type | 2 tests |
Chondrodysplasia punctata | 1 test |
Chondrodysplasia punctata 2 X-linked dominant | 7 tests |
Chondrodysplasia with joint dislocations, gPAPP type | 2 tests |
Choroid plexus papilloma | 7 tests |
Choroidal dystrophy, central areolar 2 | 2 tests |
Choroidal dystrophy, central areolar, 1 | 1 test |
Choroideremia | 7 tests |
Christianson syndrome | 7 tests |
Chromosome 17q11.2 deletion syndrome, 1.4Mb | 1 test |
Chromosome 1p32-p31 deletion syndrome | 1 test |
Chromosome 2P16.3 deletion syndrome | 2 tests |
Chromosome 2q32-q33 deletion syndrome | 2 tests |
Chronic infantile neurological, cutaneous and articular syndrome | 3 tests |
Chronic pancreatitis | 1 test |
Chudley-McCullough syndrome | 5 tests |
Chuvash polycythemia | 2 tests |
Chylomicron retention disease | 1 test |
Chédiak-Higashi syndrome | 9 tests |
Ciliary dyskinesia, primary, 36, X-linked | 4 tests |
Ciliary dyskinesia, primary, 37 | 4 tests |
Ciliary dyskinesia, primary, 38 | 5 tests |
Ciliary dyskinesia, primary, 39 | 4 tests |
Ciliary dyskinesia, primary, 40 | 5 tests |
Ciliary dyskinesia, primary, 41 | 4 tests |
Ciliary dyskinesia, primary, 42 | 3 tests |
Ciliary dyskinesia, primary, 43 | 5 tests |
Ciliary dyskinesia, primary, 45 | 5 tests |
Ciliopathy | 1 test |
Citrullinemia type I | 4 tests |
Citrullinemia type II | 6 tests |
Citrullinemia, type II, adult-onset | 1 test |
Clark-Baraitser syndrome | 3 tests |
Classic Hodgkin lymphoma | 1 test |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 2 tests |
Classic homocystinuria | 12 tests |
Cleft lip/palate-ectodermal dysplasia syndrome | 3 tests |
Cleft palate with or without ankyloglossia, X-linked | 2 tests |
Cleft palate, proliferative retinopathy, and developmental delay | 1 test |
Cleidocranial dysostosis | 2 tests |
Clubfoot | 2 tests |
Coats plus syndrome | 3 tests |
Cobalamin C disease | 7 tests |
Cobblestone lissencephaly without muscular or ocular involvement | 3 tests |
Cockayne syndrome type 1 | 5 tests |
Cockayne syndrome type 2 | 3 tests |
Cocoon syndrome | 1 test |
Coenzyme Q10 deficiency | 5 tests |
Coenzyme Q10 deficiency, primary, 1 | 1 test |
Coenzyme Q10 deficiency, primary, 3 | 5 tests |
Coffin-Lowry syndrome | 2 tests |
Coffin-Siris syndrome | 1 test |
Coffin-Siris syndrome 1 | 7 tests |
Coffin-Siris syndrome 5 | 4 tests |
Coffin-Siris syndrome 7 | 2 tests |
Coffin-Siris syndrome 8 | 1 test |
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 3 tests |
Cognitive impairment with or without cerebellar ataxia | 2 tests |
Cohen syndrome | 11 tests |
Cohen-Gibson syndrome | 1 test |
Colchicine resistance | 1 test |
Cole-Carpenter syndrome 1 | 1 test |
Cole-Carpenter syndrome 2 | 5 tests |
Collagen 6-related myopathy | 2 tests |
Coloboma of optic nerve | 6 tests |
Coloboma, ocular, autosomal dominant | 3 tests |
Coloboma, ocular, autosomal recessive | 1 test |
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | 2 tests |
Colobomatous microphthalmia-rhizomelic dysplasia syndrome | 5 tests |
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome | 4 tests |
Colorectal cancer | 9 tests |
Colorectal cancer, hereditary nonpolyposis, type 2 | 14 tests |
Colorectal cancer, hereditary nonpolyposis, type 4 | 12 tests |
Colorectal cancer, hereditary nonpolyposis, type 5 | 14 tests |
Colorectal cancer, hereditary nonpolyposis, type 6 | 3 tests |
Colorectal cancer, hereditary nonpolyposis, type 7 | 3 tests |
Colorectal cancer, hereditary nonpolyposis, type 8 | 14 tests |
Colorectal cancer, susceptibility to, 1 | 2 tests |
Colorectal cancer, susceptibility to, 10 | 8 tests |
Colorectal cancer, susceptibility to, 12 | 5 tests |
Colorectal carcinoma | 2 tests |
Combined deficiency of sialidase AND beta galactosidase | 7 tests |
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | 1 test |
Combined immunodeficiency due to CD3gamma deficiency | 1 test |
Combined immunodeficiency due to DOCK8 deficiency | 4 tests |
Combined immunodeficiency due to LRBA deficiency | 5 tests |
Combined immunodeficiency due to MALT1 deficiency | 1 test |
Combined immunodeficiency due to STIM1 deficiency | 4 tests |
Combined immunodeficiency due to ZAP70 deficiency | 1 test |
Combined immunodeficiency due to partial RAG1 deficiency | 2 tests |
Combined immunodeficiency with skin granulomas | 3 tests |
Combined immunodeficiency, X-linked | 3 tests |
Combined malonic and methylmalonic acidemia | 6 tests |
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | 1 test |
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 1 test |
Combined oxidative phosphorylation defect type 11 | 1 test |
Combined oxidative phosphorylation defect type 13 | 3 tests |
Combined oxidative phosphorylation defect type 14 | 5 tests |
Combined oxidative phosphorylation defect type 15 | 4 tests |
Combined oxidative phosphorylation defect type 17 | 1 test |
Combined oxidative phosphorylation defect type 2 | 1 test |
Combined oxidative phosphorylation defect type 20 | 1 test |
Combined oxidative phosphorylation defect type 21 | 1 test |
Combined oxidative phosphorylation defect type 23 | 2 tests |
Combined oxidative phosphorylation defect type 24 | 3 tests |
Combined oxidative phosphorylation defect type 25 | 1 test |
Combined oxidative phosphorylation defect type 26 | 2 tests |
Combined oxidative phosphorylation defect type 27 | 1 test |
Combined oxidative phosphorylation defect type 30 | 2 tests |
Combined oxidative phosphorylation defect type 4 | 2 tests |
Combined oxidative phosphorylation defect type 7 | 6 tests |
Combined oxidative phosphorylation defect type 8 | 3 tests |
Combined oxidative phosphorylation defect type 9 | 2 tests |
Combined oxidative phosphorylation deficiency 19 | 1 test |
Combined oxidative phosphorylation deficiency 22 | 2 tests |
Combined oxidative phosphorylation deficiency 28 | 1 test |
Combined oxidative phosphorylation deficiency 32 | 1 test |
Combined oxidative phosphorylation deficiency 33 | 2 tests |
Combined oxidative phosphorylation deficiency 34 | 2 tests |
Combined oxidative phosphorylation deficiency 35 | 1 test |
Combined oxidative phosphorylation deficiency 36 | 2 tests |
Combined oxidative phosphorylation deficiency 37 | 2 tests |
Combined oxidative phosphorylation deficiency 38 | 1 test |
Combined oxidative phosphorylation deficiency 39 | 1 test |
Combined oxidative phosphorylation deficiency 40 | 1 test |
Combined oxidative phosphorylation deficiency 41 | 2 tests |
Combined oxidative phosphorylation deficiency 42 | 1 test |
Combined oxidative phosphorylation deficiency 43 | 1 test |
Combined oxidative phosphorylation deficiency 44 | 1 test |
Combined oxidative phosphorylation deficiency 46 | 1 test |
Combined oxidative phosphorylation deficiency 47 | 1 test |
Common variable agammaglobulinemia | 2 tests |
Complete trisomy 21 syndrome | 2 tests |
Complex V deficiency | 1 test |
Complex cortical dysplasia with other brain malformations 1 | 5 tests |
Complex cortical dysplasia with other brain malformations 2 | 3 tests |
Complex cortical dysplasia with other brain malformations 3 | 4 tests |
Complex cortical dysplasia with other brain malformations 4 | 4 tests |
Complex cortical dysplasia with other brain malformations 5 | 2 tests |
Complex cortical dysplasia with other brain malformations 6 | 3 tests |
Complex cortical dysplasia with other brain malformations 7 | 5 tests |
Complex lethal osteochondrodysplasia | 5 tests |
Compton-North congenital myopathy | 4 tests |
Cone dystrophy 3 | 3 tests |
Cone dystrophy 4 | 4 tests |
Cone dystrophy with supernormal rod response | 4 tests |
Cone-rod dystrophy | 1 test |
Cone-rod dystrophy 10 | 2 tests |
Cone-rod dystrophy 11 | 3 tests |
Cone-rod dystrophy 12 | 3 tests |
Cone-rod dystrophy 13 | 6 tests |
Cone-rod dystrophy 15 | 5 tests |
Cone-rod dystrophy 16 | 7 tests |
Cone-rod dystrophy 18 | 3 tests |
Cone-rod dystrophy 19 | 2 tests |
Cone-rod dystrophy 2 | 5 tests |
Cone-rod dystrophy 20 | 3 tests |
Cone-rod dystrophy 21 | 3 tests |
Cone-rod dystrophy 3 | 4 tests |
Cone-rod dystrophy 5 | 5 tests |
Cone-rod dystrophy 6 | 6 tests |
Cone-rod dystrophy 7 | 3 tests |
Cone-rod dystrophy 9 | 3 tests |
Cone-rod dystrophy and hearing loss | 1 test |
Cone-rod dystrophy and hearing loss 1 | 1 test |
Cone-rod dystrophy and hearing loss 2 | 1 test |
Cone-rod synaptic disorder, congenital nonprogressive | 6 tests |
Congenital absence of salivary gland | 3 tests |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | 9 tests |
Congenital adrenal hypoplasia, X-linked | 8 tests |
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | 7 tests |
Congenital afibrinogenemia | 5 tests |
Congenital amegakaryocytic thrombocytopenia | 5 tests |
Congenital aneurysm of ascending aorta | 1 test |
Congenital anomalies of kidney and urinary tract 1 | 4 tests |
Congenital anomalies of kidney and urinary tract 2 | 1 test |
Congenital anomalies of kidney and urinary tract 3 | 1 test |
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 3 tests |
Congenital anomaly of eye | 1 test |
Congenital anomaly of kidney and urinary tract | 2 tests |
Congenital bilateral aplasia of vas deferens from CFTR mutation | 7 tests |
Congenital bile acid synthesis defect 1 | 2 tests |
Congenital bile acid synthesis defect 2 | 2 tests |
Congenital bile acid synthesis defect 3 | 3 tests |
Congenital bile acid synthesis defect 4 | 4 tests |
Congenital bile acid synthesis defect 5 | 2 tests |
Congenital bile acid synthesis defect 6 | 1 test |
Congenital brain dysgenesis due to glutamine synthetase deficiency | 2 tests |
Congenital cataract-hearing loss-severe developmental delay syndrome | 5 tests |
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 2 tests |
Congenital cataracts-facial dysmorphism-neuropathy syndrome | 7 tests |
Congenital central hypoventilation | 14 tests |
Congenital contractural arachnodactyly | 9 tests |
Congenital contractures of the limbs and face, hypotonia, and developmental delay | 5 tests |
Congenital defect of folate absorption | 4 tests |
Congenital diarrhea 5 with tufting enteropathy | 5 tests |
Congenital diarrhea 6 | 2 tests |
Congenital diarrhea 7 with exudative enteropathy | 1 test |
Congenital disorder of deglycosylation | 3 tests |
Congenital disorder of glycosylation type 1C | 3 tests |
Congenital disorder of glycosylation type 1E | 6 tests |
Congenital disorder of glycosylation type Ir | 1 test |
Congenital disorder of glycosylation, type ICC | 1 test |
Congenital disorder of glycosylation, type IIq | 1 test |
Congenital dyserythropoietic anemia type 4 | 5 tests |
Congenital dyserythropoietic anemia type type 1B | 3 tests |
Congenital dyserythropoietic anemia, type I | 5 tests |
Congenital dyserythropoietic anemia, type II | 5 tests |
Congenital fibrosis of extraocular muscles | 1 test |
Congenital fibrosis of extraocular muscles type 1 | 1 test |
Congenital generalized lipodystrophy type 1 | 3 tests |
Congenital generalized lipodystrophy type 2 | 3 tests |
Congenital generalized lipodystrophy type 3 | 4 tests |
Congenital generalized lipodystrophy type 4 | 5 tests |
Congenital glucose-galactose malabsorption | 1 test |
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 test |
Congenital heart defects, multiple types, 2 | 1 test |
Congenital heart defects, multiple types, 4 | 3 tests |
Congenital heart defects, multiple types, 5 | 2 tests |
Congenital heart defects, multiple types, 7 | 1 test |
Congenital heart disease | 3 tests |
Congenital hereditary endothelial dystrophy of cornea | 2 tests |
Congenital hyperammonemia, type I | 5 tests |
Congenital hypomyelinating neuropathy | 5 tests |
Congenital hypothyroidism | 1 test |
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | 1 test |
Congenital hypotrichosis with juvenile macular dystrophy | 2 tests |
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | 1 test |
Congenital insensitivity to pain-hypohidrosis syndrome | 2 tests |
Congenital lactase deficiency | 1 test |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 5 tests |
Congenital lipoid adrenal hyperplasia due to STAR deficency | 6 tests |
Congenital long QT syndrome | 5 tests |
Congenital macrodactylia | 3 tests |
Congenital malabsorptive diarrhea 4 | 2 tests |
Congenital microvillous atrophy | 3 tests |
Congenital multicore myopathy with external ophthalmoplegia | 7 tests |
Congenital muscular dystrophy due to LMNA mutation | 6 tests |
Congenital muscular dystrophy due to integrin alpha-7 deficiency | 3 tests |
Congenital muscular dystrophy with intellectual disability and severe epilepsy | 5 tests |
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | 3 tests |
Congenital muscular hypertrophy-cerebral syndrome | 11 tests |
Congenital myasthenic syndrome 10 | 4 tests |
Congenital myasthenic syndrome 11 | 2 tests |
Congenital myasthenic syndrome 12 | 3 tests |
Congenital myasthenic syndrome 13 | 3 tests |
Congenital myasthenic syndrome 14 | 2 tests |
Congenital myasthenic syndrome 15 | 2 tests |
Congenital myasthenic syndrome 16 | 2 tests |
Congenital myasthenic syndrome 17 | 1 test |
Congenital myasthenic syndrome 18 | 2 tests |
Congenital myasthenic syndrome 19 | 3 tests |
Congenital myasthenic syndrome 1A | 2 tests |
Congenital myasthenic syndrome 20 | 1 test |
Congenital myasthenic syndrome 21 | 4 tests |
Congenital myasthenic syndrome 2A | 2 tests |
Congenital myasthenic syndrome 2C | 1 test |
Congenital myasthenic syndrome 3A | 2 tests |
Congenital myasthenic syndrome 3B | 3 tests |
Congenital myasthenic syndrome 3C | 2 tests |
Congenital myasthenic syndrome 4A | 2 tests |
Congenital myasthenic syndrome 4B | 2 tests |
Congenital myasthenic syndrome 4C | 4 tests |
Congenital myasthenic syndrome 5 | 3 tests |
Congenital myasthenic syndrome 7 | 4 tests |
Congenital myasthenic syndrome 8 | 2 tests |
Congenital myasthenic syndrome 9 | 2 tests |
Congenital myopathy | 1 test |
Congenital myopathy with fiber type disproportion | 6 tests |
Congenital myopathy with internal nuclei and atypical cores | 3 tests |
Congenital myotonia, autosomal dominant form | 2 tests |
Congenital myotonia, autosomal recessive form | 2 tests |
Congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome | 5 tests |
Congenital neutropenia-myelofibrosis-nephromegaly syndrome | 3 tests |
Congenital nongoitrous hypothryoidism 6 | 2 tests |
Congenital ocular coloboma | 3 tests |
Congenital plasminogen activator inhibitor type 1 deficiency | 2 tests |
Congenital primary aphakia | 8 tests |
Congenital prothrombin deficiency | 4 tests |
Congenital reticular ichthyosiform erythroderma | 1 test |
Congenital secretory diarrhea, chloride type | 2 tests |
Congenital secretory sodium diarrhea 3 | 2 tests |
Congenital secretory sodium diarrhea 8 | 1 test |
Congenital sensory neuropathy with selective loss of small myelinated fibers | 3 tests |
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 2 tests |
Congenital sodium diarrhea | 1 test |
Congenital stationary night blindness 1A | 4 tests |
Congenital stationary night blindness 1B | 3 tests |
Congenital stationary night blindness 1C | 3 tests |
Congenital stationary night blindness 1D | 5 tests |
Congenital stationary night blindness 1E | 3 tests |
Congenital stationary night blindness 1F | 4 tests |
Congenital stationary night blindness 1G | 3 tests |
Congenital stationary night blindness 1H | 2 tests |
Congenital stationary night blindness 2A | 5 tests |
Congenital stationary night blindness autosomal dominant 1 | 5 tests |
Congenital stationary night blindness autosomal dominant 2 | 5 tests |
Congenital stationary night blindness autosomal dominant 3 | 3 tests |
Congenital stromal corneal dystrophy | 2 tests |
Conotruncal heart malformations | 10 tests |
Constitutional megaloblastic anemia with severe neurologic disease | 1 test |
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 4 tests |
Contractures, pterygia, and variable skeletal fusions syndrome 1B | 1 test |
Cornea plana 2 | 2 tests |
Corneal dystrophy, Fuchs endothelial, 1 | 3 tests |
Corneal dystrophy, Fuchs endothelial, 3 | 4 tests |
Corneal dystrophy, Fuchs endothelial, 4 | 1 test |
Corneal dystrophy, Fuchs endothelial, 6 | 3 tests |
Corneal dystrophy, Fuchs endothelial, 8 | 2 tests |
Corneal dystrophy, lattice type 3A | 2 tests |
Corneal dystrophy, posterior polymorphous, 4 | 4 tests |
Corneal dystrophy-perceptive deafness syndrome | 1 test |
Cornelia de Lange syndrome 1 | 11 tests |
Cornelia de Lange syndrome 3 | 7 tests |
Cornelia de Lange syndrome 4 | 9 tests |
Cornelia de Lange syndrome 5 | 8 tests |
Corpus callosum agenesis-abnormal genitalia syndrome | 7 tests |
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | 2 tests |
Cortical dysplasia, complex, with other brain malformations 10 | 2 tests |
Cortical dysplasia, complex, with other brain malformations 9 | 2 tests |
Cortical dysplasia-focal epilepsy syndrome | 6 tests |
Costello syndrome | 12 tests |
Cowden syndrome | 5 tests |
Cowden syndrome 1 | 17 tests |
Cowden syndrome 3 | 1 test |
Cowden syndrome 5 | 6 tests |
Cowden syndrome 6 | 1 test |
Cowden syndrome 7 | 2 tests |
Coxopodopatellar syndrome | 3 tests |
Craniodiaphyseal dysplasia, autosomal dominant | 2 tests |
Cranioectodermal dysplasia 1 | 4 tests |
Cranioectodermal dysplasia 2 | 6 tests |
Cranioectodermal dysplasia 3 | 2 tests |
Cranioectodermal dysplasia 4 | 2 tests |
Craniofacial anomalies and anterior segment dysgenesis syndrome | 3 tests |
Craniofacial dysplasia - osteopenia syndrome | 1 test |
Craniofacial-deafness-hand syndrome | 5 tests |
Craniofrontonasal syndrome | 9 tests |
Craniolenticulosutural dysplasia | 1 test |
Craniometaphyseal dysplasia, autosomal dominant | 1 test |
Craniometaphyseal dysplasia, autosomal recessive | 5 tests |
Craniosynostosis 2 | 2 tests |
Craniosynostosis 5, susceptibility to | 2 tests |
Craniosynostosis and dental anomalies | 1 test |
Craniosynostosis syndrome | 1 test |
Creatine transporter deficiency | 2 tests |
Crigler-Najjar syndrome | 1 test |
Crigler-Najjar syndrome type 1 | 2 tests |
Crigler-Najjar syndrome, type II | 3 tests |
Cromer blood group system | 1 test |
Crouzon syndrome | 10 tests |
Crouzon syndrome-acanthosis nigricans syndrome | 11 tests |
Cryohydrocytosis | 1 test |
Cryptophthalmos syndrome | 6 tests |
Cryptorchidism | 3 tests |
Curly hair, ankyloblepharon, nail dysplasia syndrome | 3 tests |
Currarino triad | 3 tests |
Curry-Hall syndrome | 5 tests |
Curry-Jones syndrome | 3 tests |
Cushing syndrome | 1 test |
Cutaneous mastocytosis | 1 test |
Cutaneous porphyria | 4 tests |
Cutis laxa with osteodystrophy | 7 tests |
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 4 tests |
Cutis laxa, X-linked | 8 tests |
Cutis laxa, autosomal dominant 1 | 7 tests |
Cutis laxa, autosomal dominant 2 | 6 tests |
Cutis laxa, autosomal dominant 3 | 5 tests |
Cutis laxa, autosomal recessive, type 1A | 7 tests |
Cutis laxa, autosomal recessive, type 1B | 8 tests |
Cyclical neutropenia | 4 tests |
Cystathioninuria | 1 test |
Cystic fibrosis | 9 tests |
Cystic leukoencephalopathy without megalencephaly | 1 test |
Cystinuria | 5 tests |
Cytochrome-c oxidase deficiency disease | 14 tests |
Czech dysplasia, metatarsal type | 13 tests |
D-2-hydroxyglutaric aciduria 1 | 5 tests |
D-2-hydroxyglutaric aciduria 2 | 4 tests |
DDX41-related hematologic malignancy predisposition syndrome | 5 tests |
DE SANCTIS-CACCHIONE SYNDROME | 1 test |
DICER1 syndrome | 8 tests |
DK1-CDG | 4 tests |
DNA ligase IV deficiency | 4 tests |
DOORS syndrome | 6 tests |
DPAGT1-CDG | 2 tests |
DPM3-CDG | 5 tests |
DYRK1A-related intellectual disability syndrome | 4 tests |
Dalmatian hypouricemia | 1 test |
Danon disease | 9 tests |
De Lange syndrome | 3 tests |
Deafness dystonia syndrome | 6 tests |
Deafness with labyrinthine aplasia, microtia, and microdontia | 2 tests |
Deafness, X-linked 5 | 4 tests |
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | 1 test |
Deafness, congenital heart defects, and posterior embryotoxon | 6 tests |
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | 3 tests |
Deafness-lymphedema-leukemia syndrome | 5 tests |
Deficiency of 2-methylbutyryl-CoA dehydrogenase | 3 tests |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 7 tests |
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 9 tests |
Deficiency of acetyl-CoA acetyltransferase | 7 tests |
Deficiency of alpha-mannosidase | 2 tests |
Deficiency of aromatic-L-amino-acid decarboxylase | 3 tests |
Deficiency of butyryl-CoA dehydrogenase | 5 tests |
Deficiency of butyrylcholinesterase | 1 test |
Deficiency of cytochrome-b5 reductase | 1 test |
Deficiency of ferroxidase | 5 tests |
Deficiency of galactokinase | 5 tests |
Deficiency of glycerol kinase | 3 tests |
Deficiency of guanidinoacetate methyltransferase | 5 tests |
Deficiency of hyaluronoglucosaminidase | 2 tests |
Deficiency of hydroxymethylglutaryl-CoA lyase | 8 tests |
Deficiency of iodide peroxidase | 2 tests |
Deficiency of isobutyryl-CoA dehydrogenase | 1 test |
Deficiency of malonyl-CoA decarboxylase | 8 tests |
Deficiency of steroid 11-beta-monooxygenase | 5 tests |
Deficiency of steroid 17-alpha-monooxygenase | 7 tests |
Deficiency of transaldolase | 3 tests |
Dehydrated hereditary stomatocytosis 2 | 2 tests |
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 5 tests |
Dejerine-Sottas disease | 6 tests |
Dent disease type 1 | 7 tests |
Dent disease type 2 | 8 tests |
Dentatorubral-pallidoluysian atrophy | 1 test |
Denticles | 2 tests |
Dentin dysplasia type I | 1 test |
Dentinogenesis imperfecta type 2 | 2 tests |
Dentinogenesis imperfecta type 3 | 2 tests |
Dermatofibrosarcoma protuberans | 1 test |
Dermatopathia pigmentosa reticularis | 2 tests |
Desbuquois dysplasia 1 | 4 tests |
Desbuquois dysplasia 2 | 2 tests |
Desmoid disease, hereditary | 3 tests |
Desmosterolosis | 5 tests |
Developmental and epileptic encephalopathy 94 | 5 tests |
Developmental and epileptic encephalopathy, 1 | 6 tests |
Developmental and epileptic encephalopathy, 11 | 7 tests |
Developmental and epileptic encephalopathy, 12 | 2 tests |
Developmental and epileptic encephalopathy, 13 | 5 tests |
Developmental and epileptic encephalopathy, 14 | 2 tests |
Developmental and epileptic encephalopathy, 15 | 2 tests |
Developmental and epileptic encephalopathy, 16 | 6 tests |
Developmental and epileptic encephalopathy, 17 | 3 tests |
Developmental and epileptic encephalopathy, 18 | 3 tests |
Developmental and epileptic encephalopathy, 19 | 2 tests |
Developmental and epileptic encephalopathy, 2 | 7 tests |
Developmental and epileptic encephalopathy, 23 | 1 test |
Developmental and epileptic encephalopathy, 24 | 4 tests |
Developmental and epileptic encephalopathy, 25 | 2 tests |
Developmental and epileptic encephalopathy, 26 | 3 tests |
Developmental and epileptic encephalopathy, 27 | 6 tests |
Developmental and epileptic encephalopathy, 28 | 1 test |
Developmental and epileptic encephalopathy, 31 | 1 test |
Developmental and epileptic encephalopathy, 32 | 3 tests |
Developmental and epileptic encephalopathy, 33 | 1 test |
Developmental and epileptic encephalopathy, 34 | 1 test |
Developmental and epileptic encephalopathy, 35 | 1 test |
Developmental and epileptic encephalopathy, 36 | 4 tests |
Developmental and epileptic encephalopathy, 37 | 1 test |
Developmental and epileptic encephalopathy, 39 | 2 tests |
Developmental and epileptic encephalopathy, 4 | 7 tests |
Developmental and epileptic encephalopathy, 41 | 1 test |
Developmental and epileptic encephalopathy, 42 | 4 tests |
Developmental and epileptic encephalopathy, 43 | 4 tests |
Developmental and epileptic encephalopathy, 44 | 1 test |
Developmental and epileptic encephalopathy, 45 | 1 test |
Developmental and epileptic encephalopathy, 46 | 2 tests |
Developmental and epileptic encephalopathy, 47 | 1 test |
Developmental and epileptic encephalopathy, 48 | 1 test |
Developmental and epileptic encephalopathy, 49 | 1 test |
Developmental and epileptic encephalopathy, 5 | 4 tests |
Developmental and epileptic encephalopathy, 50 | 2 tests |
Developmental and epileptic encephalopathy, 51 | 2 tests |
Developmental and epileptic encephalopathy, 53 | 2 tests |
Developmental and epileptic encephalopathy, 54 | 3 tests |
Developmental and epileptic encephalopathy, 55 | 2 tests |
Developmental and epileptic encephalopathy, 56 | 1 test |
Developmental and epileptic encephalopathy, 57 | 1 test |
Developmental and epileptic encephalopathy, 58 | 1 test |
Developmental and epileptic encephalopathy, 59 | 1 test |
Developmental and epileptic encephalopathy, 6 | 1 test |
Developmental and epileptic encephalopathy, 60 | 1 test |
Developmental and epileptic encephalopathy, 62 | 3 tests |
Developmental and epileptic encephalopathy, 63 | 1 test |
Developmental and epileptic encephalopathy, 64 | 2 tests |
Developmental and epileptic encephalopathy, 65 | 1 test |
Developmental and epileptic encephalopathy, 66 | 1 test |
Developmental and epileptic encephalopathy, 67 | 1 test |
Developmental and epileptic encephalopathy, 7 | 4 tests |
Developmental and epileptic encephalopathy, 70 | 1 test |
Developmental and epileptic encephalopathy, 71 | 1 test |
Developmental and epileptic encephalopathy, 75 | 1 test |
Developmental and epileptic encephalopathy, 76 | 1 test |
Developmental and epileptic encephalopathy, 77 | 1 test |
Developmental and epileptic encephalopathy, 8 | 4 tests |
Developmental and epileptic encephalopathy, 80 | 1 test |
Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 2 tests |
Developmental and epileptic encephalopathy, 9 | 5 tests |
Developmental delay | 1 test |
Developmental delay with or without dysmorphic facies and autism | 1 test |
Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 test |
Developmental delay, intellectual disability, obesity, and dysmorphic features | 1 test |
Developmental malformations-deafness-dystonia syndrome | 3 tests |
Dextro-looped transposition of the great arteries 1 | 4 tests |
Dextro-looped transposition of the great arteries 3 | 3 tests |
Di-George syndrome | 1 test |
DiGeorge syndrome | 5 tests |
Diabetes insipidus, nephrogenic, X-linked | 2 tests |
Diabetes insipidus, nephrogenic, autosomal | 2 tests |
Diabetes mellitus type 1 | 2 tests |
Diabetes mellitus, ketosis-prone | 1 test |
Diabetes mellitus, noninsulin-dependent, 5 | 3 tests |
Diabetes mellitus, permanent neonatal 2 | 1 test |
Diabetes mellitus, permanent neonatal 3 | 3 tests |
Diabetes mellitus, permanent neonatal 4 | 2 tests |
Diabetes mellitus, transient neonatal, 1 | 2 tests |
Diabetes mellitus, transient neonatal, 2 | 2 tests |
Diabetes mellitus, transient neonatal, 3 | 1 test |
Diamond-Blackfan anemia | 1 test |
Diamond-Blackfan anemia 1 | 4 tests |
Diamond-Blackfan anemia 10 | 4 tests |
Diamond-Blackfan anemia 11 | 2 tests |
Diamond-Blackfan anemia 12 | 4 tests |
Diamond-Blackfan anemia 13 | 2 tests |
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | 1 test |
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | 1 test |
Diamond-Blackfan anemia 16 | 1 test |
Diamond-Blackfan anemia 17 | 1 test |
Diamond-Blackfan anemia 3 | 4 tests |
Diamond-Blackfan anemia 4 | 4 tests |
Diamond-Blackfan anemia 5 | 4 tests |
Diamond-Blackfan anemia 6 | 4 tests |
Diamond-Blackfan anemia 7 | 4 tests |
Diamond-Blackfan anemia 8 | 4 tests |
Diamond-Blackfan anemia 9 | 4 tests |
Diaphanospondylodysostosis | 1 test |
Diaphragmatic hernia 3 | 3 tests |
Diaphyseal dysplasia | 4 tests |
Diarrhea 10, protein-losing enteropathy type | 1 test |
Diarrhea 9 | 1 test |
Dias-Logan syndrome | 4 tests |
Diastrophic dysplasia | 6 tests |
Diencephalic-mesencephalic junction dysplasia syndrome 2 | 1 test |
Diets-Jongmans syndrome | 1 test |
Diffuse mesangial sclerosis | 4 tests |
Diffuse nonepidermolytic palmoplantar keratoderma | 2 tests |
Dihydropteridine reductase deficiency | 3 tests |
Dihydropyrimidinase deficiency | 1 test |
Dihydropyrimidine dehydrogenase deficiency | 2 tests |
Dilated cardiomyopathy 1A | 11 tests |
Dilated cardiomyopathy 1AA | 6 tests |
Dilated cardiomyopathy 1BB | 1 test |
Dilated cardiomyopathy 1C | 6 tests |
Dilated cardiomyopathy 1CC | 6 tests |
Dilated cardiomyopathy 1D | 3 tests |
Dilated cardiomyopathy 1DD | 4 tests |
Dilated cardiomyopathy 1E | 4 tests |
Dilated cardiomyopathy 1EE | 4 tests |
Dilated cardiomyopathy 1FF | 3 tests |
Dilated cardiomyopathy 1GG | 1 test |
Dilated cardiomyopathy 1HH | 3 tests |
Dilated cardiomyopathy 1I | 6 tests |
Dilated cardiomyopathy 1II | 3 tests |
Dilated cardiomyopathy 1J | 4 tests |
Dilated cardiomyopathy 1JJ | 4 tests |
Dilated cardiomyopathy 1KK | 6 tests |
Dilated cardiomyopathy 1L | 5 tests |
Dilated cardiomyopathy 1M | 1 test |
Dilated cardiomyopathy 1NN | 3 tests |
Dilated cardiomyopathy 1O | 1 test |
Dilated cardiomyopathy 1P | 5 tests |
Dilated cardiomyopathy 1R | 5 tests |
Dilated cardiomyopathy 1S | 7 tests |
Dilated cardiomyopathy 1U | 1 test |
Dilated cardiomyopathy 1V | 1 test |
Dilated cardiomyopathy 1W | 3 tests |
Dilated cardiomyopathy 1X | 4 tests |
Dilated cardiomyopathy 1Y | 5 tests |
Dilated cardiomyopathy 1Z | 1 test |
Dilated cardiomyopathy 2A | 6 tests |
Dilated cardiomyopathy 2B | 3 tests |
Dilated cardiomyopathy 3B | 5 tests |
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 9 tests |
Dilution, pigmentary | 2 tests |
Dimethylglycine dehydrogenase deficiency | 1 test |
Disorder of fatty acid metabolism | 1 test |
Disorders of Intracellular Cobalamin Metabolism | 1 test |
Distal arthrogryposis type 2B1 | 6 tests |
Distal arthrogryposis type 5D | 4 tests |
Distal myopathy with anterior tibial onset | 3 tests |
Distal myopathy with posterior leg and anterior hand involvement | 2 tests |
Distal myopathy, Tateyama type | 1 test |
Distichiasis-lymphedema syndrome | 3 tests |
Dizygotic twins | 1 test |
Dominant beta-thalassemia | 1 test |
Dominant dystrophic epidermolysis bullosa with absence of skin | 4 tests |
Donnai-Barrow syndrome | 6 tests |
Dopa-responsive dystonia due to sepiapterin reductase deficiency | 4 tests |
Dopamine beta-hydroxylase deficiency | 1 test |
Dowling-Degos disease 1 | 1 test |
Doyne honeycomb retinal dystrophy | 4 tests |
Drash syndrome | 7 tests |
Duane retraction syndrome 2 | 2 tests |
Duane retraction syndrome 3 with or without deafness | 3 tests |
Duane-radial ray syndrome | 8 tests |
Dubin-Johnson syndrome | 3 tests |
Duchenne muscular dystrophy | 3 tests |
Dyggve-Melchior-Clausen syndrome | 1 test |
Dyskeratosis congenita, X-linked | 8 tests |
Dyskeratosis congenita, autosomal dominant 1 | 7 tests |
Dyskeratosis congenita, autosomal dominant 2 | 8 tests |
Dyskeratosis congenita, autosomal dominant 3 | 5 tests |
Dyskeratosis congenita, autosomal dominant 6 | 2 tests |
Dyskeratosis congenita, autosomal recessive 1 | 4 tests |
Dyskeratosis congenita, autosomal recessive 2 | 4 tests |
Dyskeratosis congenita, autosomal recessive 3 | 4 tests |
Dyskeratosis congenita, autosomal recessive 5 | 6 tests |
Dyskeratosis congenita, autosomal recessive 6 | 5 tests |
Dysmorphic features | 1 test |
Dystonia 12 | 6 tests |
Dystonia 16 | 2 tests |
Dystonia 24 | 2 tests |
Dystonia 25 | 2 tests |
Dystonia 27 | 1 test |
Dystonia 5 | 6 tests |
Dystonia 9 | 5 tests |
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 3 tests |
Dystonic disorder | 1 test |
EAST syndrome | 4 tests |
EDICT syndrome | 2 tests |
EEM syndrome | 3 tests |
ERCC1-Related Xeroderma Pigmentosum | 1 test |
Early myoclonic encephalopathy | 2 tests |
Early-onset Parkinson disease 20 | 3 tests |
Early-onset generalized limb-onset dystonia | 2 tests |
Early-onset myopathy with fatal cardiomyopathy | 1 test |
Early-onset parkinsonism-intellectual disability syndrome | 5 tests |
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | 1 test |
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | 4 tests |
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | 3 tests |
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 3 tests |
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | 3 tests |
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | 3 tests |
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | 1 test |
Ectodermal dysplasia 4, hair/nail type | 2 tests |
Ectodermal dysplasia and immunodeficiency 1 | 3 tests |
Ectodermal dysplasia and immunodeficiency 2 | 3 tests |
Ectodermal dysplasia-syndactyly syndrome 1 | 2 tests |
Ectopia lentis 1, isolated, autosomal dominant | 11 tests |
Ectopia lentis 2, isolated, autosomal recessive | 2 tests |
Ectopia lentis et pupillae | 2 tests |
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | 9 tests |
Efavirenz response | 1 test |
Ehlers-Danlos syndrome | 1 test |
Ehlers-Danlos syndrome due to tenascin-X deficiency | 3 tests |
Ehlers-Danlos syndrome progeroid type | 3 tests |
Ehlers-Danlos syndrome, arthrochalasis type | 10 tests |
Ehlers-Danlos syndrome, cardiac valvular type | 8 tests |
Ehlers-Danlos syndrome, classic type | 9 tests |
Ehlers-Danlos syndrome, classic type, 1 | 2 tests |
Ehlers-Danlos syndrome, classic type, 2 | 2 tests |
Ehlers-Danlos syndrome, classic-like, 2 | 3 tests |
Ehlers-Danlos syndrome, dermatosparaxis type | 3 tests |
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | 4 tests |
Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 6 tests |
Ehlers-Danlos syndrome, musculocontractural type | 4 tests |
Ehlers-Danlos syndrome, musculocontractural type 1 | 1 test |
Ehlers-Danlos syndrome, musculocontractural type 2 | 2 tests |
Ehlers-Danlos syndrome, periodontal type 1 | 2 tests |
Ehlers-Danlos syndrome, periodontal type 2 | 2 tests |
Ehlers-Danlos syndrome, spondylocheirodysplastic type | 2 tests |
Ehlers-Danlos syndrome, spondylodysplastic type, 2 | 3 tests |
Ehlers-Danlos syndrome, type 3 | 2 tests |
Ehlers-Danlos syndrome, type 4 | 9 tests |
Ehlers-danlos syndrome, arthrochalasia type, 2 | 2 tests |
Eichsfeld type congenital muscular dystrophy | 3 tests |
Eiken syndrome | 1 test |
Elliptocytosis 1 | 2 tests |
Elliptocytosis 2 | 3 tests |
Elliptocytosis 3 | 1 test |
Ellis-van Creveld syndrome | 11 tests |
Elsahy-Waters syndrome | 2 tests |
Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 6 tests |
Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2 tests |
Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 1 test |
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization | 3 tests |
Encephalocraniocutaneous lipomatosis | 2 tests |
Encephalopathy due to GLUT1 deficiency | 6 tests |
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 1 test |
Encephalopathy due to prosaposin deficiency | 2 tests |
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | 1 test |
Encephalopathy, acute, infection-induced, susceptibility to, 4 | 1 test |
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 6 tests |
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | 2 tests |
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | 2 tests |
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | 5 tests |
Endemic goiter | 1 test |
Endocrine-cerebro-osteodysplasia syndrome | 4 tests |
Endometrial carcinoma | 6 tests |
Enterokinase deficiency | 1 test |
Epidermal nevus | 9 tests |
Epidermolysis bullosa dystrophica | 1 test |
Epidermolysis bullosa pruriginosa | 4 tests |
Epidermolysis bullosa simplex 1A, generalized severe | 4 tests |
Epidermolysis bullosa simplex 1C, localized | 6 tests |
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | 3 tests |
Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | 3 tests |
Epidermolysis bullosa simplex 5B, with muscular dystrophy | 5 tests |
Epidermolysis bullosa simplex 5C, with pyloric atresia | 5 tests |
Epidermolysis bullosa simplex due to plakophilin deficiency | 3 tests |
Epidermolysis bullosa simplex with migratory circinate erythema | 3 tests |
Epidermolysis bullosa simplex with mottled pigmentation | 3 tests |
Epidermolysis bullosa simplex with nail dystrophy | 5 tests |
Epidermolysis bullosa simplex, Koebner type | 4 tests |
Epidermolysis bullosa simplex, Ogna type | 5 tests |
Epidermolytic palmoplantar keratoderma | 4 tests |
Epilepsy | 3 tests |
Epilepsy, childhood absence, susceptibility to, 5 | 5 tests |
Epilepsy, familial focal, with variable foci 2 | 1 test |
Epilepsy, familial focal, with variable foci 3 | 1 test |
Epilepsy, familial focal, with variable foci 4 | 2 tests |
Epilepsy, familial temporal lobe, 1 | 1 test |
Epilepsy, idiopathic generalized, susceptibility to, 10 | 1 test |
Epilepsy, idiopathic generalized, susceptibility to, 12 | 4 tests |
Epilepsy, idiopathic generalized, susceptibility to, 13 | 3 tests |
Epilepsy, idiopathic generalized, susceptibility to, 14 | 1 test |
Epilepsy, idiopathic generalized, susceptibility to, 16 | 1 test |
Epilepsy, idiopathic generalized, susceptibility to, 9 | 1 test |
Epilepsy, juvenile myoclonic, susceptibility to, 10 | 2 tests |
Epilepsy, progressive myoclonic 2A (Lafora) | 1 test |
Epilepsy, progressive myoclonic 2B (Lafora) | 1 test |
Epileptic encephalopathy, infantile or early childhood, 2 | 1 test |
Epileptic encephalopathy, infantile or early childhood, 3 | 2 tests |
Epiphyseal dysplasia, multiple, 2 | 6 tests |
Epiphyseal dysplasia, multiple, 3 | 5 tests |
Epiphyseal dysplasia, multiple, 6 | 6 tests |
Epiphyseal dysplasia, multiple, 7 | 4 tests |
Episodic ataxia type 1 | 3 tests |
Episodic ataxia type 2 | 4 tests |
Episodic ataxia type 5 | 1 test |
Episodic ataxia type 6 | 2 tests |
Episodic ataxia, type 9 | 2 tests |
Episodic kinesigenic dyskinesia 1 | 3 tests |
Episodic pain syndrome, familial, 2 | 2 tests |
Epithelial basement membrane dystrophy | 2 tests |
Epithelial recurrent erosion dystrophy | 1 test |
Epsilon-trimethyllysine hydroxylase deficiency | 1 test |
Erythrocytosis, familial, 6 | 1 test |
Erythrokeratoderma, reticular | 1 test |
Erythrokeratodermia variabilis | 1 test |
Erythrokeratodermia variabilis et progressiva 1 | 1 test |
Erythrokeratodermia variabilis et progressiva 3 | 3 tests |
Erythropoietic protoporphyria | 3 tests |
Essential hypertension | 4 tests |
Essential hypertension, genetic | 1 test |
Essential thrombocythemia | 2 tests |
Essential tremor | 1 test |
Ethylmalonic encephalopathy | 4 tests |
Exercise intolerance, riboflavin-responsive | 1 test |
Exercise-induced hyperinsulinism | 3 tests |
Exostoses, multiple, type 2 | 4 tests |
Extraskeletal myxoid chondrosarcoma | 2 tests |
Exudative vitreoretinopathy 1 | 5 tests |
Exudative vitreoretinopathy 2, X-linked | 9 tests |
Exudative vitreoretinopathy 4 | 5 tests |
Exudative vitreoretinopathy 5 | 4 tests |
Exudative vitreoretinopathy 6 | 4 tests |
Exudative vitreoretinopathy 7 | 4 tests |
FADD-related immunodeficiency | 2 tests |
FG syndrome 1 | 13 tests |
FG syndrome 2 | 16 tests |
FG syndrome 4 | 5 tests |
FGFR2-related bent bone dysplasia | 9 tests |
FIBROMUSCULAR DYSPLASIA, MULTIFOCAL | 1 test |
FRAXE | 1 test |
Fabry disease | 10 tests |
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | 3 tests |
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 1 test |
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | 2 tests |
Facial paresis, hereditary congenital, 3 | 1 test |
Facioscapulohumeral muscular dystrophy 2 | 3 tests |
Factor 5 and Factor VIII, combined deficiency of, 2 | 3 tests |
Factor H deficiency | 1 test |
Factor V and factor VIII, combined deficiency of, type 1 | 4 tests |
Factor V deficiency | 4 tests |
Factor VII deficiency | 4 tests |
Factor X deficiency | 3 tests |
Factor XII deficiency disease | 2 tests |
Factor XIII, A subunit, deficiency of | 4 tests |
Factor XIII, b subunit, deficiency of | 4 tests |
Failure to thrive | 1 test |
Familial Mediterranean fever | 4 tests |
Familial Mediterranean fever, autosomal dominant | 4 tests |
Familial X-linked hypophosphatemic vitamin D refractory rickets | 4 tests |
Familial adenomatous polyposis 1 | 6 tests |
Familial adenomatous polyposis 4 | 2 tests |
Familial amyloid nephropathy with urticaria AND deafness | 3 tests |
Familial apolipoprotein C-II deficiency | 2 tests |
Familial atrial myxoma | 4 tests |
Familial benign flecked retina | 5 tests |
Familial benign pemphigus | 1 test |
Familial cancer of breast | 22 tests |
Familial cold autoinflammatory syndrome | 2 tests |
Familial cold autoinflammatory syndrome 1 | 1 test |
Familial cold autoinflammatory syndrome 2 | 2 tests |
Familial cold autoinflammatory syndrome 3 | 1 test |
Familial cold autoinflammatory syndrome 4 | 1 test |
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | 1 test |
Familial cylindromatosis | 1 test |
Familial digital arthropathy-brachydactyly | 1 test |
Familial dysautonomia | 5 tests |
Familial dysfibrinogenemia | 1 test |
Familial episodic pain syndrome with predominantly lower limb involvement | 3 tests |
Familial expansile osteolysis | 2 tests |
Familial exudative vitreoretinopathy | 1 test |
Familial febrile seizures 8 | 2 tests |
Familial focal epilepsy with variable foci | 2 tests |
Familial gestational hyperthyroidism | 2 tests |
Familial hemophagocytic lymphohistiocytosis 2 | 5 tests |
Familial hemophagocytic lymphohistiocytosis 3 | 3 tests |
Familial hemophagocytic lymphohistiocytosis 4 | 2 tests |
Familial hemophagocytic lymphohistiocytosis 5 | 3 tests |
Familial hyperaldosteronism type II | 2 tests |
Familial hyperaldosteronism type III | 1 test |
Familial hypercholesterolemia | 3 tests |
Familial hyperinsulinism | 1 test |
Familial hyperkalemic periodic paralysis | 4 tests |
Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome | 1 test |
Familial hyperprolactinemia | 1 test |
Familial hyperthyroidism due to mutations in TSH receptor | 2 tests |
Familial hypobetalipoproteinemia 1 | 2 tests |
Familial hypobetalipoproteinemia 2 | 1 test |
Familial hypocalciuric hypercalcemia | 2 tests |
Familial hypocalciuric hypercalcemia 2 | 2 tests |
Familial hypocalciuric hypercalcemia 3 | 3 tests |
Familial hypokalemia-hypomagnesemia | 2 tests |
Familial hypoparathyroidism | 3 tests |
Familial idiopathic hypercalciuria | 2 tests |
Familial idiopathic steroid-resistant nephrotic syndrome | 2 tests |
Familial infantile myasthenia | 3 tests |
Familial infantile myoclonic epilepsy | 6 tests |
Familial isolated deficiency of vitamin E | 1 test |
Familial juvenile hyperuricemic nephropathy type 1 | 2 tests |
Familial juvenile hyperuricemic nephropathy type 2 | 1 test |
Familial medullary thyroid carcinoma | 5 tests |
Familial meningioma | 12 tests |
Familial multiple polyposis syndrome | 1 test |
Familial partial lipodystrophy, Dunnigan type | 5 tests |
Familial porphyria cutanea tarda | 3 tests |
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome | 2 tests |
Familial pulmonary capillary hemangiomatosis | 1 test |
Familial scaphocephaly syndrome, McGillivray type | 6 tests |
Familial spontaneous pneumothorax | 3 tests |
Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 4 tests |
Familial temporal lobe epilepsy 7 | 3 tests |
Familial thoracic aortic aneurysm and aortic dissection | 1 test |
Familial thyroid dyshormonogenesis 1 | 2 tests |
Familial type 3 hyperlipoproteinemia | 1 test |
Familial type 5 hyperlipoproteinemia | 2 tests |
Familial visceral amyloidosis, Ostertag type | 2 tests |
Fanconi anemia | 1 test |
Fanconi anemia complementation group A | 10 tests |
Fanconi anemia complementation group B | 6 tests |
Fanconi anemia complementation group C | 8 tests |
Fanconi anemia complementation group D1 | 7 tests |
Fanconi anemia complementation group D2 | 6 tests |
Fanconi anemia complementation group E | 5 tests |
Fanconi anemia complementation group F | 5 tests |
Fanconi anemia complementation group G | 6 tests |
Fanconi anemia complementation group I | 5 tests |
Fanconi anemia complementation group J | 8 tests |
Fanconi anemia complementation group L | 5 tests |
Fanconi anemia complementation group N | 9 tests |
Fanconi anemia complementation group O | 6 tests |
Fanconi anemia complementation group P | 5 tests |
Fanconi anemia complementation group Q | 6 tests |
Fanconi anemia complementation group R | 3 tests |
Fanconi anemia complementation group T | 3 tests |
Fanconi anemia complementation group U | 5 tests |
Fanconi anemia complementation group V | 3 tests |
Fanconi anemia, complementation group M | 2 tests |
Fanconi anemia, complementation group S | 2 tests |
Fanconi anemia, complementation group W | 4 tests |
Fanconi renotubular syndrome 1 | 1 test |
Fanconi renotubular syndrome 2 | 3 tests |
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 2 tests |
Fanconi renotubular syndrome 5 | 1 test |
Fanconi-Bickel syndrome | 10 tests |
Farber lipogranulomatosis | 3 tests |
Fasting plasma glucose level quantitative trait locus 5 | 1 test |
Fatal infantile hypertonic myofibrillar myopathy | 1 test |
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 4 tests |
Fatty acyl-CoA reductase 1 deficiency | 1 test |
Febrile seizures, familial, 4 | 1 test |
Feeding difficulties | 1 test |
Feingold syndrome | 1 test |
Feingold syndrome type 1 | 6 tests |
Feingold syndrome type 2 | 5 tests |
Female infertility due to zona pellucida defect | 3 tests |
Fetal akinesia deformation sequence 1 | 5 tests |
Fetal akinesia deformation sequence 2 | 1 test |
Fetal akinesia deformation sequence 3 | 1 test |
Fetal akinesia deformation sequence 4 | 1 test |
Fetal akinesia-cerebral and retinal hemorrhage syndrome | 2 tests |
Fetal hemoglobin quantitative trait locus 1 | 1 test |
Fetal hemoglobin quantitative trait locus 6 | 3 tests |
Fibrochondrogenesis | 2 tests |
Fibrochondrogenesis 1 | 4 tests |
Fibrochondrogenesis 2 | 6 tests |
Fibromatosis, gingival, 1 | 3 tests |
Fibromatosis, gingival, 5 | 2 tests |
Fibrosis of extraocular muscles, congenital, 2 | 2 tests |
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 2 tests |
Fibrosis of extraocular muscles, congenital, 5 | 1 test |
Fibrous dysplasia of jaw | 1 test |
Filippi syndrome | 2 tests |
Finnish congenital nephrotic syndrome | 2 tests |
Fish-eye disease | 2 tests |
Fleck corneal dystrophy | 2 tests |
Floating-Harbor syndrome | 6 tests |
Focal dermal hypoplasia | 6 tests |
Focal facial dermal dysplasia type III | 1 test |
Focal segmental glomerulosclerosis | 1 test |
Focal segmental glomerulosclerosis 1 | 2 tests |
Focal segmental glomerulosclerosis 2 | 3 tests |
Focal segmental glomerulosclerosis 3, susceptibility to | 2 tests |
Focal segmental glomerulosclerosis 4, susceptibility to | 1 test |
Focal segmental glomerulosclerosis 5 | 1 test |
Focal segmental glomerulosclerosis 6 | 1 test |
Focal segmental glomerulosclerosis 7 | 4 tests |
Focal segmental glomerulosclerosis 8 | 2 tests |
Focal segmental glomerulosclerosis 9 | 2 tests |
Follicular thyroid carcinoma | 1 test |
Fontaine progeroid syndrome | 2 tests |
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | 4 tests |
Foveal hypoplasia 1 | 9 tests |
Fowler syndrome | 3 tests |
Fragile X syndrome | 4 tests |
Fragile X-associated tremor/ataxia syndrome | 3 tests |
Frank-Ter Haar syndrome | 4 tests |
Fraser syndrome 1 | 7 tests |
Fraser syndrome 2 | 12 tests |
Fraser syndrome 3 | 8 tests |
Frasier syndrome | 7 tests |
Freeman-Sheldon syndrome | 5 tests |
Frontometaphyseal dysplasia | 1 test |
Frontometaphyseal dysplasia 1 | 10 tests |
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | 1 test |
Frontonasal dysplasia with alopecia and genital anomaly | 3 tests |
Frontorhiny | 3 tests |
Frontotemporal dementia | 7 tests |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | 4 tests |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 5 tests |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 6 tests |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 5 tests |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 3 tests |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | 4 tests |
Fructose-biphosphatase deficiency | 4 tests |
Fucosidosis | 3 tests |
Fuhrmann syndrome | 2 tests |
Fumarase deficiency | 7 tests |
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis | 5 tests |
GM1 gangliosidosis type 2 | 3 tests |
GM1 gangliosidosis type 3 | 3 tests |
GM3 synthase deficiency | 2 tests |
GNE myopathy | 5 tests |
GRACILE syndrome | 4 tests |
GTP cyclohydrolase I deficiency | 1 test |
Galactosylceramide beta-galactosidase deficiency | 7 tests |
Gallbladder disease 4 | 1 test |
Galloway-Mowat syndrome 1 | 4 tests |
Galloway-Mowat syndrome 2, X-linked | 4 tests |
Galloway-Mowat syndrome 3 | 4 tests |
Galloway-Mowat syndrome 4 | 3 tests |
Galloway-Mowat syndrome 5 | 3 tests |
Galloway-Mowat syndrome 6 | 2 tests |
Galloway-Mowat syndrome 7 | 2 tests |
Galloway-Mowat syndrome 8 | 2 tests |
Gamma-glutamylcysteine synthetase deficiency | 1 test |
Gapo syndrome | 1 test |
Gastric adenocarcinoma and proximal polyposis of the stomach | 1 test |
Gastric cancer | 2 tests |
Gastrointestinal stromal tumor | 5 tests |
Gaucher disease perinatal lethal | 3 tests |
Gaucher disease type I | 3 tests |
Gaucher disease type II | 3 tests |
Gaucher disease type III | 3 tests |
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | 3 tests |
Gaze palsy, familial horizontal, with progressive scoliosis 1 | 2 tests |
Geleophysic dysplasia 1 | 3 tests |
Geleophysic dysplasia 2 | 12 tests |
Geleophysic dysplasia 3 | 2 tests |
Generalized dominant dystrophic epidermolysis bullosa | 4 tests |
Generalized epilepsy with febrile seizures plus, type 1 | 2 tests |
Generalized epilepsy with febrile seizures plus, type 10 | 1 test |
Generalized epilepsy with febrile seizures plus, type 2 | 6 tests |
Generalized epilepsy with febrile seizures plus, type 7 | 2 tests |
Generalized epilepsy with febrile seizures plus, type 9 | 2 tests |
Generalized epilepsy-paroxysmal dyskinesia syndrome | 1 test |
Generalized juvenile polyposis/juvenile polyposis coli | 5 tests |
Generalized neonatal hypotonia | 1 test |
Generalized pustular psoriasis | 2 tests |
Genitopatellar syndrome | 4 tests |
Genitourinary and/or brain malformation syndrome | 2 tests |
Germ cell tumor of testis | 3 tests |
Geroderma osteodysplastica | 3 tests |
Giant axonal neuropathy 1 | 4 tests |
Gilbert syndrome | 3 tests |
Gillespie syndrome | 2 tests |
Gillessen-Kaesbach-Nishimura syndrome | 1 test |
Glanzmann thrombasthenia | 8 tests |
Glaucoma | 1 test |
Glaucoma 1, open angle, A | 4 tests |
Glaucoma 1, open angle, G | 2 tests |
Glaucoma 1, open angle, O | 1 test |
Glaucoma 3, primary congenital, D | 6 tests |
Glaucoma 3, primary congenital, E | 1 test |
Glaucoma 3A | 4 tests |
Glaucoma, normal tension, susceptibility to | 6 tests |
Glaucoma, primary closed-angle | 1 test |
Glioma susceptibility 1 | 4 tests |
Glioma susceptibility 2 | 4 tests |
Glioma susceptibility 3 | 4 tests |
Glioma susceptibility 9 | 4 tests |
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome | 2 tests |
Global developmental delay, progressive ataxia, and elevated glutamine | 1 test |
Globozoospermia | 4 tests |
Glomerulopathy with fibronectin deposits 2 | 1 test |
Glucocorticoid deficiency 2 | 1 test |
Glucocorticoid deficiency 4 | 2 tests |
Glucocorticoid deficiency 5 | 3 tests |
Glucocorticoid deficiency with achalasia | 1 test |
Glucocorticoid resistance | 3 tests |
Glucose-6-phosphate transport defect | 7 tests |
Glutamate formiminotransferase deficiency | 1 test |
Glutaric aciduria, type 1 | 5 tests |
Glutathione synthetase deficiency without 5-oxoprolinuria | 3 tests |
Gluthathione peroxidase deficiency | 1 test |
Gluthathione synthetase deficiency | 3 tests |
Glycine N-methyltransferase deficiency | 3 tests |
Glycogen storage disease IXa1 | 4 tests |
Glycogen storage disease IXb | 4 tests |
Glycogen storage disease IXc | 4 tests |
Glycogen storage disease IXd | 3 tests |
Glycogen storage disease XV | 3 tests |
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 4 tests |
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | 2 tests |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency | 2 tests |
Glycogen storage disease due to muscle beta-enolase deficiency | 2 tests |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 7 tests |
Glycogen storage disease type III | 6 tests |
Glycogen storage disease type X | 3 tests |
Glycogen storage disease, type II | 11 tests |
Glycogen storage disease, type IV | 7 tests |
Glycogen storage disease, type V | 4 tests |
Glycogen storage disease, type VI | 4 tests |
Glycogen storage disease, type VII | 5 tests |
Glycogen storage disorder due to hepatic glycogen synthase deficiency | 4 tests |
Glycosylphosphatidylinositol biosynthesis defect 15 | 2 tests |
Glycosylphosphatidylinositol biosynthesis defect 16 | 1 test |
Glycosylphosphatidylinositol biosynthesis defect 17 | 1 test |
Glycosylphosphatidylinositol biosynthesis defect 18 | 1 test |
Glycosylphosphatidylinositol biosynthesis defect 21 | 1 test |
Gnathodiaphyseal dysplasia | 1 test |
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors | 5 tests |
Goldberg-Shprintzen megacolon syndrome | 3 tests |
Goldblatt syndrome | 1 test |
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | 2 tests |
Gonadotropin-independent familial sexual precocity | 5 tests |
Gordon syndrome | 2 tests |
Gorlin syndrome | 7 tests |
Graft-versus-host disease, susceptibility to | 1 test |
Grange syndrome | 3 tests |
Granulomatous disease, chronic, X-linked | 4 tests |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 3 tests |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | 3 tests |
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | 3 tests |
Gray platelet syndrome | 3 tests |
Grebe syndrome | 4 tests |
Greenberg dysplasia | 5 tests |
Greig cephalopolysyndactyly syndrome | 10 tests |
Griscelli syndrome type 1 | 4 tests |
Griscelli syndrome type 2 | 6 tests |
Griscelli syndrome type 3 | 2 tests |
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions | 5 tests |
Groenouw corneal dystrophy type I | 2 tests |
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | 1 test |
Growth delay due to insulin-like growth factor I resistance | 2 tests |
Guttmacher syndrome | 8 tests |
H syndrome | 2 tests |
HNSHA due to aldolase A deficiency | 3 tests |
HSD10 mitochondrial disease | 5 tests |
Haim-Munk syndrome | 1 test |
Hajdu-Cheney syndrome | 6 tests |
Hamartoma of hypothalamus | 5 tests |
Hand-foot-genital syndrome | 5 tests |
Hartsfield-Bixler-Demyer syndrome | 8 tests |
Hashimoto thyroiditis | 2 tests |
Hawkinsinuria | 2 tests |
Hb SS disease | 2 tests |
Hearing loss, X-linked 1 | 3 tests |
Hearing loss, X-linked 4 | 2 tests |
Hearing loss, X-linked 6 | 4 tests |
Hearing loss, autosomal dominant 34, with or without inflammation | 1 test |
Hearing loss, autosomal dominant 37 | 2 tests |
Hearing loss, autosomal dominant 71 | 1 test |
Hearing loss, autosomal dominant 72 | 1 test |
Hearing loss, autosomal dominant 73 | 1 test |
Hearing loss, autosomal dominant 74 | 1 test |
Hearing loss, autosomal recessive 106 | 1 test |
Hearing loss, autosomal recessive 107 | 1 test |
Hearing loss, autosomal recessive 108 | 1 test |
Hearing loss, autosomal recessive 110 | 1 test |
Hearing loss, autosomal recessive 111 | 1 test |
Hearing loss, autosomal recessive 112 | 1 test |
Hearing loss, autosomal recessive 115 | 1 test |
Hearing loss, autosomal recessive 57 | 1 test |
Hearing loss, autosomal recessive 94 | 1 test |
Heart defect - tongue hamartoma - polysyndactyly syndrome | 2 tests |
Heart, malformation of | 2 tests |
Heart-hand syndrome, Slovenian type | 4 tests |
Hecht syndrome | 3 tests |
Heimler syndrome 1 | 8 tests |
Heimler syndrome 2 | 6 tests |
Heinz body anemia | 2 tests |
Helicobacter pylori infection, susceptibility to | 1 test |
Helicoid peripapillary chorioretinal degeneration | 1 test |
Hematologic neoplasm | 1 test |
Hemochromatosis type 1 | 6 tests |
Hemochromatosis type 2A | 2 tests |
Hemochromatosis type 2B | 2 tests |
Hemochromatosis type 3 | 2 tests |
Hemochromatosis type 4 | 2 tests |
Hemochromatosis type 5 | 1 test |
Hemoglobin H disease | 3 tests |
Hemolytic anemia due to adenylate kinase deficiency | 1 test |
Hemolytic anemia due to glucophosphate isomerase deficiency | 2 tests |
Hemolytic anemia due to glutathione reductase deficiency | 1 test |
Hemolytic anemia due to hexokinase deficiency | 1 test |
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | 1 test |
Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 1 test |
Hennekam lymphangiectasia-lymphedema syndrome | 2 tests |
Hennekam lymphangiectasia-lymphedema syndrome 1 | 4 tests |
Hennekam lymphangiectasia-lymphedema syndrome 2 | 3 tests |
Hennekam lymphangiectasia-lymphedema syndrome 3 | 1 test |
Heparin cofactor II deficiency | 1 test |
Hepatic adenomas, familial | 1 test |
Hepatic methionine adenosyltransferase deficiency | 3 tests |
Hepatitis B virus, susceptibility to | 2 tests |
Hepatitis C virus, susceptibility to | 2 tests |
Hepatocellular carcinoma | 5 tests |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 4 tests |
Hepatomegaly | 1 test |
Hereditary acrodermatitis enteropathica | 1 test |
Hereditary angioedema type 1 | 2 tests |
Hereditary antithrombin deficiency | 2 tests |
Hereditary arterial and articular multiple calcification syndrome | 1 test |
Hereditary breast ovarian cancer syndrome | 2 tests |
Hereditary cancer-predisposing syndrome | 1 test |
Hereditary cerebral amyloid angiopathy, Icelandic type | 1 test |
Hereditary coproporphyria | 4 tests |
Hereditary cryohydrocytosis with reduced stomatin | 3 tests |
Hereditary diffuse gastric adenocarcinoma | 11 tests |
Hereditary diffuse leukoencephalopathy with spheroids | 6 tests |
Hereditary disease | 8 tests |
Hereditary factor I deficiency disease | 2 tests |
Hereditary factor IX deficiency disease | 3 tests |
Hereditary factor VIII deficiency disease | 4 tests |
Hereditary factor X deficiency disease | 1 test |
Hereditary factor XI deficiency disease | 3 tests |
Hereditary fructosuria | 5 tests |
Hereditary hearing loss and deafness | 3 tests |
Hereditary hemochromatosis | 1 test |
Hereditary hemorrhagic telangiectasia | 2 tests |
Hereditary hypercarotenemia and vitamin A deficiency | 3 tests |
Hereditary hyperferritinemia with congenital cataracts | 3 tests |
Hereditary insensitivity to pain with anhidrosis | 3 tests |
Hereditary intrinsic factor deficiency | 1 test |
Hereditary leiomyomatosis and renal cell cancer | 6 tests |
Hereditary liability to pressure palsies | 1 test |
Hereditary lymphedema type I | 3 tests |
Hereditary motor and sensory neuropathy with optic atrophy | 7 tests |
Hereditary motor and sensory neuropathy, Okinawa type | 2 tests |
Hereditary myopathy with lactic acidosis due to ISCU deficiency | 3 tests |
Hereditary neutrophilia | 2 tests |
Hereditary pancreatitis | 10 tests |
Hereditary pediatric Behçet-like disease | 2 tests |
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement | 1 test |
Hereditary sensory and autonomic neuropathy type 1 | 3 tests |
Hereditary sensory and autonomic neuropathy type 6 | 3 tests |
Hereditary sensory and autonomic neuropathy type 7 | 2 tests |
Hereditary sensory and autonomic neuropathy with spastic paraplegia | 5 tests |
Hereditary sensory neuropathy-deafness-dementia syndrome | 3 tests |
Hereditary sideroblastic anemia | 1 test |
Hereditary spastic paraplegia 10 | 10 tests |
Hereditary spastic paraplegia 11 | 6 tests |
Hereditary spastic paraplegia 12 | 3 tests |
Hereditary spastic paraplegia 13 | 5 tests |
Hereditary spastic paraplegia 15 | 5 tests |
Hereditary spastic paraplegia 17 | 6 tests |
Hereditary spastic paraplegia 18 | 3 tests |
Hereditary spastic paraplegia 2 | 6 tests |
Hereditary spastic paraplegia 23 | 3 tests |
Hereditary spastic paraplegia 26 | 3 tests |
Hereditary spastic paraplegia 28 | 4 tests |
Hereditary spastic paraplegia 30 | 5 tests |
Hereditary spastic paraplegia 31 | 4 tests |
Hereditary spastic paraplegia 33 | 2 tests |
Hereditary spastic paraplegia 35 | 5 tests |
Hereditary spastic paraplegia 39 | 3 tests |
Hereditary spastic paraplegia 3A | 4 tests |
Hereditary spastic paraplegia 4 | 6 tests |
Hereditary spastic paraplegia 42 | 6 tests |
Hereditary spastic paraplegia 43 | 3 tests |
Hereditary spastic paraplegia 44 | 2 tests |
Hereditary spastic paraplegia 45 | 3 tests |
Hereditary spastic paraplegia 46 | 3 tests |
Hereditary spastic paraplegia 47 | 3 tests |
Hereditary spastic paraplegia 48 | 4 tests |
Hereditary spastic paraplegia 49 | 3 tests |
Hereditary spastic paraplegia 50 | 5 tests |
Hereditary spastic paraplegia 51 | 3 tests |
Hereditary spastic paraplegia 53 | 3 tests |
Hereditary spastic paraplegia 54 | 4 tests |
Hereditary spastic paraplegia 55 | 3 tests |
Hereditary spastic paraplegia 56 | 5 tests |
Hereditary spastic paraplegia 57 | 3 tests |
Hereditary spastic paraplegia 5A | 7 tests |
Hereditary spastic paraplegia 6 | 4 tests |
Hereditary spastic paraplegia 61 | 3 tests |
Hereditary spastic paraplegia 62 | 3 tests |
Hereditary spastic paraplegia 63 | 3 tests |
Hereditary spastic paraplegia 64 | 3 tests |
Hereditary spastic paraplegia 7 | 9 tests |
Hereditary spastic paraplegia 72 | 3 tests |
Hereditary spastic paraplegia 73 | 3 tests |
Hereditary spastic paraplegia 74 | 4 tests |
Hereditary spastic paraplegia 75 | 3 tests |
Hereditary spastic paraplegia 77 | 3 tests |
Hereditary spastic paraplegia 8 | 5 tests |
Hereditary spastic paraplegia 9A | 6 tests |
Hereditary spherocytosis type 1 | 3 tests |
Hereditary spherocytosis type 2 | 3 tests |
Hereditary spherocytosis type 3 | 3 tests |
Hereditary spherocytosis type 4 | 3 tests |
Hereditary spherocytosis type 5 | 3 tests |
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 9 tests |
Hereditary xanthinuria type 1 | 2 tests |
Hermansky-Pudlak syndrome 1 | 8 tests |
Hermansky-Pudlak syndrome 10 | 4 tests |
Hermansky-Pudlak syndrome 2 | 9 tests |
Hermansky-Pudlak syndrome 3 | 8 tests |
Hermansky-Pudlak syndrome 4 | 8 tests |
Hermansky-Pudlak syndrome 5 | 7 tests |
Hermansky-Pudlak syndrome 6 | 8 tests |
Hermansky-Pudlak syndrome 7 | 7 tests |
Hermansky-Pudlak syndrome 8 | 7 tests |
Hermansky-Pudlak syndrome 9 | 6 tests |
Herpes simplex encephalitis, susceptibility to, 2 | 1 test |
Heterotaxy, visceral, 1, X-linked | 7 tests |
Heterotaxy, visceral, 2, autosomal | 2 tests |
Heterotaxy, visceral, 4, autosomal | 4 tests |
Heterotaxy, visceral, 6, autosomal | 3 tests |
Heterotaxy, visceral, 7, autosomal | 2 tests |
Heterotaxy, visceral, 8, autosomal | 4 tests |
Heterotopia, periventricular, X-linked dominant | 13 tests |
Heyn-Sproul-Jackson syndrome | 2 tests |
Hidrotic ectodermal dysplasia syndrome | 3 tests |
High myopia-sensorineural deafness syndrome | 2 tests |
Hip dysplasia, Beukes type | 1 test |
Hirschsprung disease, cardiac defects, and autonomic dysfunction | 3 tests |
Hirschsprung disease, susceptibility to, 1 | 6 tests |
Hirschsprung disease, susceptibility to, 2 | 6 tests |
Hirschsprung disease, susceptibility to, 3 | 3 tests |
Hirschsprung disease, susceptibility to, 4 | 7 tests |
Histiocytic medullary reticulosis | 7 tests |
Holocarboxylase synthetase deficiency | 4 tests |
Holoprosencephaly 11 | 4 tests |
Holoprosencephaly 12 with or without pancreatic agenesis | 1 test |
Holoprosencephaly 13, X-linked | 1 test |
Holoprosencephaly 2 | 4 tests |
Holoprosencephaly 3 | 9 tests |
Holoprosencephaly 4 | 4 tests |
Holoprosencephaly 5 | 4 tests |
Holoprosencephaly 7 | 8 tests |
Holoprosencephaly 9 | 9 tests |
Holoprosencephaly sequence | 3 tests |
Holt-Oram syndrome | 7 tests |
Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 8 tests |
Hoyeraal-Hreidarsson syndrome | 2 tests |
Human HOXA1 syndromes | 3 tests |
Humerofemoral hypoplasia with radiotibial ray deficiency | 1 test |
Huntington disease | 1 test |
Hurler syndrome | 3 tests |
Hurthle cell carcinoma of thyroid | 1 test |
Hutchinson-Gilford syndrome | 5 tests |
Hyaline fibromatosis syndrome | 2 tests |
Hydrocephalus, congenital communicating, 1 | 1 test |
Hydrocephalus, congenital, 3, with brain anomalies | 1 test |
Hydrocephalus, nonsyndromic, autosomal recessive 1 | 2 tests |
Hydrocephalus, nonsyndromic, autosomal recessive 2 | 4 tests |
Hydrolethalus syndrome 2 | 7 tests |
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | 2 tests |
Hydroxykynureninuria | 1 test |
Hyper-IgE recurrent infection syndrome 1 | 7 tests |
Hyper-IgM syndrome type 1 | 4 tests |
Hyper-IgM syndrome type 2 | 4 tests |
Hyper-IgM syndrome type 3 | 2 tests |
Hyper-IgM syndrome type 5 | 2 tests |
Hyperaldosteronism, familial, type IV | 2 tests |
Hyperalphalipoproteinemia 1 | 1 test |
Hyperammonemia | 2 tests |
Hyperammonemia, type III | 3 tests |
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 4 tests |
Hypercalcemia, infantile, 1 | 1 test |
Hypercalcemia, infantile, 2 | 1 test |
Hypercholanemia, familial | 1 test |
Hypercholanemia, familial 1 | 1 test |
Hypercholesterolemia, autosomal dominant, 3 | 2 tests |
Hypercholesterolemia, autosomal dominant, type B | 3 tests |
Hypercholesterolemia, familial, 4 | 3 tests |
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | 2 tests |
Hyperimmunoglobulin D with periodic fever | 6 tests |
Hyperinsulinemic hypoglycemia, familial, 1 | 6 tests |
Hyperinsulinemic hypoglycemia, familial, 2 | 5 tests |
Hyperinsulinemic hypoglycemia, familial, 4 | 6 tests |
Hyperinsulinism due to INSR deficiency | 2 tests |
Hyperinsulinism due to glucokinase deficiency | 4 tests |
Hyperinsulinism-hyperammonemia syndrome | 5 tests |
Hyperlipidemia, familial combined, LPL related | 2 tests |
Hyperlipoproteinemia, type 1D | 2 tests |
Hyperlipoproteinemia, type I | 3 tests |
Hypermanganesemia with dystonia 2 | 1 test |
Hypermanganesemia with dystonia, polycythemia, and cirrhosis | 1 test |
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | 4 tests |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 3 tests |
Hyperparathyroidism 1 | 3 tests |
Hyperparathyroidism 2 with jaw tumors | 3 tests |
Hyperphenylalaninemia due to DNAJC12 deficiency | 3 tests |
Hyperphosphatasemia tarda | 2 tests |
Hyperphosphatasemia with bone disease | 2 tests |
Hyperphosphatasia with intellectual disability syndrome 1 | 3 tests |
Hyperphosphatasia with intellectual disability syndrome 2 | 3 tests |
Hyperphosphatasia with intellectual disability syndrome 3 | 1 test |
Hyperphosphatasia with intellectual disability syndrome 4 | 1 test |
Hyperphosphatasia with intellectual disability syndrome 5 | 1 test |
Hyperphosphatasia with intellectual disability syndrome 6 | 2 tests |
Hyperpigmentation with or without hypopigmentation, familial progressive | 3 tests |
Hyperproinsulinemia | 1 test |
Hyperprolactinemia | 1 test |
Hypertelorism, Teebi type | 2 tests |
Hyperthyroxinemia, dystransthyretinemic | 1 test |
Hypertrichotic osteochondrodysplasia Cantu type | 3 tests |
Hypertriglyceridemia, familial | 2 tests |
Hypertrophic cardiomyopathy 1 | 7 tests |
Hypertrophic cardiomyopathy 10 | 5 tests |
Hypertrophic cardiomyopathy 11 | 3 tests |
Hypertrophic cardiomyopathy 12 | 6 tests |
Hypertrophic cardiomyopathy 13 | 6 tests |
Hypertrophic cardiomyopathy 14 | 7 tests |
Hypertrophic cardiomyopathy 15 | 4 tests |
Hypertrophic cardiomyopathy 16 | 3 tests |
Hypertrophic cardiomyopathy 17 | 4 tests |
Hypertrophic cardiomyopathy 18 | 7 tests |
Hypertrophic cardiomyopathy 19 | 2 tests |
Hypertrophic cardiomyopathy 2 | 5 tests |
Hypertrophic cardiomyopathy 20 | 5 tests |
Hypertrophic cardiomyopathy 25 | 5 tests |
Hypertrophic cardiomyopathy 26 | 4 tests |
Hypertrophic cardiomyopathy 3 | 3 tests |
Hypertrophic cardiomyopathy 4 | 6 tests |
Hypertrophic cardiomyopathy 6 | 5 tests |
Hypertrophic cardiomyopathy 7 | 7 tests |
Hypertrophic cardiomyopathy 8 | 5 tests |
Hypertrophic cardiomyopathy 9 | 3 tests |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | 1 test |
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome | 3 tests |
Hyperuricemic nephropathy, familial juvenile type 4 | 1 test |
Hypoalphalipoproteinemia, primary, 1 | 2 tests |
Hypoalphalipoproteinemia, primary, 2 | 1 test |
Hypochondroplasia | 12 tests |
Hypogonadotropic hypogonadism 1 with or without anosmia | 10 tests |
Hypogonadotropic hypogonadism 10 with or without anosmia | 6 tests |
Hypogonadotropic hypogonadism 11 with or without anosmia | 7 tests |
Hypogonadotropic hypogonadism 12 with or without anosmia | 6 tests |
Hypogonadotropic hypogonadism 13 with or without anosmia | 6 tests |
Hypogonadotropic hypogonadism 14 with or without anosmia | 8 tests |
Hypogonadotropic hypogonadism 15 with or without anosmia | 6 tests |
Hypogonadotropic hypogonadism 16 with or without anosmia | 7 tests |
Hypogonadotropic hypogonadism 17 with or without anosmia | 5 tests |
Hypogonadotropic hypogonadism 18 with or without anosmia | 8 tests |
Hypogonadotropic hypogonadism 19 with or without anosmia | 4 tests |
Hypogonadotropic hypogonadism 2 with or without anosmia | 14 tests |
Hypogonadotropic hypogonadism 20 with or without anosmia | 5 tests |
Hypogonadotropic hypogonadism 21 with or without anosmia | 4 tests |
Hypogonadotropic hypogonadism 22 with or without anosmia | 7 tests |
Hypogonadotropic hypogonadism 24 without anosmia | 6 tests |
Hypogonadotropic hypogonadism 3 with or without anosmia | 8 tests |
Hypogonadotropic hypogonadism 4 with or without anosmia | 7 tests |
Hypogonadotropic hypogonadism 5 with or without anosmia | 17 tests |
Hypogonadotropic hypogonadism 6 with or without anosmia | 13 tests |
Hypogonadotropic hypogonadism 7 with or without anosmia | 9 tests |
Hypogonadotropic hypogonadism 8 with or without anosmia | 7 tests |
Hypogonadotropic hypogonadism 9 with or without anosmia | 7 tests |
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | 1 test |
Hypohidrotic X-linked ectodermal dysplasia | 3 tests |
Hypoinsulinemic hypoglycemia and body hemihypertrophy | 5 tests |
Hypokalemic periodic paralysis, type 1 | 2 tests |
Hypokalemic periodic paralysis, type 2 | 3 tests |
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | 2 tests |
Hypomyelinating leukodystrophy 10 | 1 test |
Hypomyelinating leukodystrophy 11 | 2 tests |
Hypomyelinating leukodystrophy 12 | 1 test |
Hypomyelinating leukodystrophy 13 | 1 test |
Hypomyelinating leukodystrophy 2 | 3 tests |
Hypomyelinating leukodystrophy 3 | 1 test |
Hypomyelinating leukodystrophy 4 | 4 tests |
Hypomyelinating leukodystrophy 6 | 3 tests |
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 4 tests |
Hypomyelinating leukodystrophy 9 | 2 tests |
Hypomyelination and Congenital Cataract | 3 tests |
Hypomyelination with brain stem and spinal cord involvement and leg spasticity | 3 tests |
Hypoparathyroidism - X-linked | 1 test |
Hypoparathyroidism, deafness, renal disease syndrome | 4 tests |
Hypoparathyroidism-retardation-dysmorphism syndrome | 3 tests |
Hypophosphatemic nephrolithiasis/osteoporosis 1 | 4 tests |
Hypophosphatemic nephrolithiasis/osteoporosis 2 | 3 tests |
Hypophosphatemic rickets, X-linked recessive | 4 tests |
Hypophosphatemic rickets, autosomal recessive, 1 | 3 tests |
Hypophosphatemic rickets, autosomal recessive, 2 | 3 tests |
Hypopigmentation-punctate palmoplantar keratoderma syndrome | 3 tests |
Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 4 tests |
Hypoplastic left heart syndrome 1 | 4 tests |
Hypoplastic left heart syndrome 2 | 4 tests |
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome | 4 tests |
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 1 test |
Hyposegmentation of neutrophil nuclei | 1 test |
Hypospadias 1, X-linked | 2 tests |
Hypospadias 2, X-linked | 5 tests |
Hypospadias 3, autosomal | 3 tests |
Hypothalamic hypothyroidism | 2 tests |
Hypothyroidism due to TSH receptor mutations | 2 tests |
Hypothyroidism, congenital, nongoitrous, 2 | 2 tests |
Hypothyroidism, congenital, nongoitrous, 5 | 3 tests |
Hypotonia with lactic acidemia and hyperammonemia | 3 tests |
Hypotonia, ataxia, and delayed development syndrome | 2 tests |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 3 tests |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 4 tests |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 3 tests |
Hypotonia-cystinuria syndrome | 1 test |
Hypotrichosis-lymphedema-telangiectasia syndrome | 3 tests |
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | 1 test |
Hypouricemia, renal, 2 | 2 tests |
I blood group system | 1 test |
IFAP syndrome with or without BRESHECK syndrome | 6 tests |
IL21-related infantile inflammatory bowel disease | 3 tests |
IMAGe syndrome | 7 tests |
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WILSON-TURNER TYPE | 3 tests |
Ichthyosis bullosa of Siemens | 3 tests |
Ichthyosis hystrix of Curth-Macklin | 3 tests |
Ichthyosis prematurity syndrome | 2 tests |
Ichthyosis vulgaris | 1 test |
Ichthyosis, hystrix-like, with hearing loss | 2 tests |
Idiopathic CD4 lymphocytopenia | 3 tests |
Idiopathic Pulmonary Fibrosis | 3 tests |
Idiopathic basal ganglia calcification 1 | 2 tests |
Idiopathic hypereosinophilic syndrome | 2 tests |
Imagawa-Matsumoto syndrome | 1 test |
Imerslund-Grasbeck syndrome | 2 tests |
Immunodeficiency 11b with atopic dermatitis | 1 test |
Immunodeficiency 14 | 6 tests |
Immunodeficiency 18 | 1 test |
Immunodeficiency 19 | 1 test |
Immunodeficiency 23 | 1 test |
Immunodeficiency 25 | 1 test |
Immunodeficiency 27A | 1 test |
Immunodeficiency 28 | 1 test |
Immunodeficiency 31B | 3 tests |
Immunodeficiency 32B | 1 test |
Immunodeficiency 33 | 3 tests |
Immunodeficiency 35 | 3 tests |
Immunodeficiency 36 | 5 tests |
Immunodeficiency 37 | 1 test |
Immunodeficiency 47 | 5 tests |
Immunodeficiency 57 | 1 test |
Immunodeficiency 67 | 2 tests |
Immunodeficiency 72 with autoinflammation | 1 test |
Immunodeficiency 75 | 1 test |
Immunodeficiency due to CD25 deficiency | 3 tests |
Immunodeficiency due to MASP-2 deficiency | 1 test |
Immunodeficiency without anhidrotic ectodermal dysplasia | 1 test |
Immunodeficiency, common variable, 1 | 3 tests |
Immunodeficiency, common variable, 10 | 4 tests |
Immunodeficiency, common variable, 12 | 2 tests |
Immunodeficiency, common variable, 14 | 2 tests |
Immunodeficiency, common variable, 2 | 3 tests |
Immunodeficiency, common variable, 3 | 3 tests |
Immunodeficiency, common variable, 4 | 3 tests |
Immunodeficiency, common variable, 5 | 3 tests |
Immunodeficiency, common variable, 6 | 3 tests |
Immunodeficiency, common variable, 7 | 3 tests |
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 1 test |
Immunoglobulin A deficiency 2 | 2 tests |
Immunoglobulin-mediated membranoproliferative glomerulonephritis | 2 tests |
Inborn mitochondrial myopathy | 3 tests |
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | 4 tests |
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 3 tests |
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | 3 tests |
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 | 3 tests |
Incontinentia pigmenti syndrome | 4 tests |
Infantile GM1 gangliosidosis | 5 tests |
Infantile cerebellar-retinal degeneration | 4 tests |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | 1 test |
Infantile convulsions and choreoathetosis | 4 tests |
Infantile cortical hyperostosis | 8 tests |
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | 1 test |
Infantile hypophosphatasia | 7 tests |
Infantile liver failure syndrome 1 | 2 tests |
Infantile liver failure syndrome 2 | 5 tests |
Infantile myofibromatosis | 2 tests |
Infantile nephronophthisis | 6 tests |
Infantile neuroaxonal dystrophy | 3 tests |
Infantile onset spinocerebellar ataxia | 8 tests |
Infantile-onset X-linked spinal muscular atrophy | 1 test |
Infantile-onset ascending hereditary spastic paralysis | 3 tests |
Infertility associated with multi-tailed spermatozoa and excessive DNA | 3 tests |
Infertility due to oligospermia | 1 test |
Inflammatory bowel disease 1 | 1 test |
Inflammatory bowel disease 13 | 1 test |
Inflammatory bowel disease 25 | 1 test |
Inflammatory bowel disease 28 | 1 test |
Inflammatory bowel disease, immunodeficiency, and encephalopathy | 1 test |
Inflammatory skin and bowel disease, neonatal, 1 | 1 test |
Inflammatory skin and bowel disease, neonatal, 2 | 1 test |
Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 4 tests |
Insulin-resistant diabetes mellitus AND acanthosis nigricans | 1 test |
Intellectual developmental disorder 61 | 1 test |
Intellectual developmental disorder 62 | 1 test |
Intellectual developmental disorder and retinitis pigmentosa; IDDRP | 1 test |
Intellectual developmental disorder with autistic features and language delay, with or without seizures | 1 test |
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | 2 tests |
Intellectual developmental disorder with cardiac defects and dysmorphic facies | 1 test |
Intellectual developmental disorder with dysmorphic facies and ptosis | 1 test |
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 1 test |
Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies | 1 test |
Intellectual developmental disorder with hypertelorism and distinctive facies | 1 test |
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies | 2 tests |
Intellectual developmental disorder with severe speech and ambulation defects | 1 test |
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 1 test |
Intellectual developmental disorder, X-linked 108 | 1 test |
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type | 1 test |
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 2 tests |
Intellectual disability | 2 tests |
Intellectual disability, X-linked 1 | 5 tests |
Intellectual disability, X-linked 100 | 2 tests |
Intellectual disability, X-linked 101 | 1 test |
Intellectual disability, X-linked 102 | 6 tests |
Intellectual disability, X-linked 103 | 1 test |
Intellectual disability, X-linked 104 | 1 test |
Intellectual disability, X-linked 105 | 1 test |
Intellectual disability, X-linked 106 | 2 tests |
Intellectual disability, X-linked 107 | 1 test |
Intellectual disability, X-linked 19 | 2 tests |
Intellectual disability, X-linked 21 | 2 tests |
Intellectual disability, X-linked 30 | 2 tests |
Intellectual disability, X-linked 41 | 1 test |
Intellectual disability, X-linked 49 | 4 tests |
Intellectual disability, X-linked 58 | 1 test |
Intellectual disability, X-linked 61 | 2 tests |
Intellectual disability, X-linked 63 | 2 tests |
Intellectual disability, X-linked 72 | 4 tests |
Intellectual disability, X-linked 9 | 1 test |
Intellectual disability, X-linked 90 | 2 tests |
Intellectual disability, X-linked 93 | 2 tests |
Intellectual disability, X-linked 96 | 1 test |
Intellectual disability, X-linked 97 | 1 test |
Intellectual disability, X-linked 99 | 3 tests |
Intellectual disability, X-linked 99, syndromic, female-restricted | 3 tests |
Intellectual disability, X-linked syndromic, Turner type | 4 tests |
Intellectual disability, X-linked, syndromic 33 | 3 tests |
Intellectual disability, X-linked, syndromic, 35 | 2 tests |
Intellectual disability, X-linked, syndromic, Houge type | 1 test |
Intellectual disability, X-linked, syndromic, bain type | 2 tests |
Intellectual disability, X-linked, with or without seizures, arx-related | 6 tests |
Intellectual disability, X-linked, with panhypopituitarism | 3 tests |
Intellectual disability, autosomal dominant 1 | 5 tests |
Intellectual disability, autosomal dominant 13 | 5 tests |
Intellectual disability, autosomal dominant 14 | 5 tests |
Intellectual disability, autosomal dominant 15 | 4 tests |
Intellectual disability, autosomal dominant 16 | 6 tests |
Intellectual disability, autosomal dominant 20 | 5 tests |
Intellectual disability, autosomal dominant 22 | 2 tests |
Intellectual disability, autosomal dominant 24 | 3 tests |
Intellectual disability, autosomal dominant 27 | 4 tests |
Intellectual disability, autosomal dominant 29 | 4 tests |
Intellectual disability, autosomal dominant 30 | 3 tests |
Intellectual disability, autosomal dominant 38 | 1 test |
Intellectual disability, autosomal dominant 39 | 4 tests |
Intellectual disability, autosomal dominant 40 | 3 tests |
Intellectual disability, autosomal dominant 41 | 2 tests |
Intellectual disability, autosomal dominant 43 | 1 test |
Intellectual disability, autosomal dominant 45 | 1 test |
Intellectual disability, autosomal dominant 47 | 1 test |
Intellectual disability, autosomal dominant 5 | 3 tests |
Intellectual disability, autosomal dominant 50 | 4 tests |
Intellectual disability, autosomal dominant 51 | 3 tests |
Intellectual disability, autosomal dominant 52 | 4 tests |
Intellectual disability, autosomal dominant 54 | 1 test |
Intellectual disability, autosomal dominant 57 | 1 test |
Intellectual disability, autosomal dominant 6 | 5 tests |
Intellectual disability, autosomal dominant 8 | 1 test |
Intellectual disability, autosomal dominant 9 | 3 tests |
Intellectual disability, autosomal recessive 12 | 1 test |
Intellectual disability, autosomal recessive 13 | 2 tests |
Intellectual disability, autosomal recessive 14 | 1 test |
Intellectual disability, autosomal recessive 2 | 1 test |
Intellectual disability, autosomal recessive 3 | 2 tests |
Intellectual disability, autosomal recessive 34 | 2 tests |
Intellectual disability, autosomal recessive 42 | 1 test |
Intellectual disability, autosomal recessive 46 | 1 test |
Intellectual disability, autosomal recessive 47 | 1 test |
Intellectual disability, autosomal recessive 53 | 2 tests |
Intellectual disability, autosomal recessive 57 | 1 test |
Intellectual disability, autosomal recessive 6 | 1 test |
Intellectual disability, autosomal recessive 65 | 1 test |
Intellectual disability, autosomal recessive 7 | 2 tests |
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | 6 tests |
Intellectual disability-epilepsy-extrapyramidal syndrome | 3 tests |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 6 tests |
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | 3 tests |
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 1 test |
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | 3 tests |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 6 tests |
Intellectual disability-severe speech delay-mild dysmorphism syndrome | 7 tests |
Intellectual disability-strabismus syndrome | 1 test |
Interstitial lung disease due to ABCA3 deficiency | 4 tests |
Intervertebral disc disorder | 4 tests |
Intestinal hypomagnesemia 1 | 1 test |
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | 1 test |
Intestinal pseudo-obstruction | 1 test |
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked | 9 tests |
Intracerebral hemorrhage | 3 tests |
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | 1 test |
Iodotyrosine deiodination defect | 2 tests |
Iodotyrosyl coupling defect | 2 tests |
Irido-corneo-trabecular dysgenesis | 8 tests |
Ischemic stroke, susceptibility to | 1 test |
Islet cell adenomatosis | 2 tests |
Isolated Nonsyndromic Congenital Heart Disease/Defects | 1 test |
Isolated cryptophthalmia | 5 tests |
Isolated focal cortical dysplasia type II | 4 tests |
Isolated lutropin deficiency | 4 tests |
Isolated microphthalmia 2 | 4 tests |
Isolated microphthalmia 3 | 3 tests |
Isolated microphthalmia 4 | 3 tests |
Isolated microphthalmia 5 | 8 tests |
Isolated microphthalmia 6 | 3 tests |
Isolated microphthalmia 7 | 3 tests |
Isolated microphthalmia 8 | 3 tests |
Isolated neonatal sclerosing cholangitis | 2 tests |
Isolated sulfite oxidase deficiency | 3 tests |
Isovaleryl-CoA dehydrogenase deficiency | 5 tests |
Jaberi-Elahi syndrome | 1 test |
Jackson-Weiss syndrome | 11 tests |
Jawad syndrome | 2 tests |
Jervell and Lange-Nielsen syndrome | 1 test |
Jervell and Lange-Nielsen syndrome 1 | 3 tests |
Jervell and Lange-Nielsen syndrome 2 | 4 tests |
Johanson-Blizzard syndrome | 7 tests |
Joint laxity, short stature, and myopia | 2 tests |
Joubert syndrome | 3 tests |
Joubert syndrome 1 | 4 tests |
Joubert syndrome 10 | 9 tests |
Joubert syndrome 12/15, digenic | 2 tests |
Joubert syndrome 13 | 6 tests |
Joubert syndrome 14 | 6 tests |
Joubert syndrome 15 | 8 tests |
Joubert syndrome 16 | 7 tests |
Joubert syndrome 17 | 7 tests |
Joubert syndrome 18 | 7 tests |
Joubert syndrome 19 | 2 tests |
Joubert syndrome 2 | 8 tests |
Joubert syndrome 20 | 5 tests |
Joubert syndrome 21 | 6 tests |
Joubert syndrome 22 | 6 tests |
Joubert syndrome 23 | 7 tests |
Joubert syndrome 24 | 4 tests |
Joubert syndrome 25 | 6 tests |
Joubert syndrome 26 | 2 tests |
Joubert syndrome 27 | 5 tests |
Joubert syndrome 28 | 5 tests |
Joubert syndrome 3 | 7 tests |
Joubert syndrome 30 | 6 tests |
Joubert syndrome 31 | 6 tests |
Joubert syndrome 32 | 4 tests |
Joubert syndrome 33 | 3 tests |
Joubert syndrome 35 | 1 test |
Joubert syndrome 5 | 10 tests |
Joubert syndrome 6 | 7 tests |
Joubert syndrome 7 | 10 tests |
Joubert syndrome 8 | 7 tests |
Joubert syndrome 9 | 11 tests |
Joubert syndrome with renal defect | 8 tests |
Juberg-Marsidi syndrome | 3 tests |
Junctional epidermolysis bullosa gravis of Herlitz | 6 tests |
Junctional epidermolysis bullosa with pyloric atresia | 6 tests |
Junctional epidermolysis bullosa, non-Herlitz type | 9 tests |
Juvenile cataract-microcornea-renal glucosuria syndrome | 3 tests |
Juvenile myelomonocytic leukemia | 8 tests |
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 1 test |
Juvenile nephropathic cystinosis | 3 tests |
Juvenile onset Parkinson disease 19A | 3 tests |
Juvenile polyposis syndrome | 3 tests |
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 9 tests |
Juvenile primary lateral sclerosis | 1 test |
Juvenile retinoschisis | 5 tests |
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | 2 tests |
KBG syndrome | 9 tests |
Kabuki syndrome | 2 tests |
Kabuki syndrome 1 | 15 tests |
Kabuki syndrome 2 | 13 tests |
Kahrizi syndrome | 3 tests |
Kartagener syndrome | 7 tests |
Karyomegalic interstitial nephritis | 2 tests |
Kearns-Sayre syndrome | 1 test |
Keipert syndrome | 1 test |
Kennedy disease | 1 test |
Keppen-Lubinsky syndrome | 2 tests |
Keratitis fugax hereditaria | 1 test |
Keratoconus 1 | 5 tests |
Keratosis follicularis spinulosa decalvans, X-linked | 1 test |
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | 3 tests |
Keratosis palmoplantaris striata 2 | 2 tests |
Keratosis palmoplantaris striata 3 | 1 test |