U.S. flag

An official website of the United States government

Diagnostic Laboratory, Department of Genetics (University Medical Center Groningen), DL-UMCG

General information

Diagnostic Laboratory, Department of Genetics, DL-UMCG
University Medical Center Groningen
Groningen
Netherlands

Organization ID: 506382

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 8537

Gene

GeneSubmissionsLast Updated
A2ML19Oct 15, 2021
A2ML1-AS11Oct 4, 2021
AAGAB2Dec 16, 2021
AARS15Dec 16, 2021
ABCA14Dec 16, 2021
ABCA121Sep 2, 2021
ABCA31Dec 16, 2021
ABCA413Oct 15, 2021
ABCB116Dec 16, 2021
ABCB47Sep 2, 2021
ABCC69Oct 4, 2021
ABCC87Dec 16, 2021
ABCC940Dec 16, 2021
ABCD15Sep 2, 2021
ABCG52Dec 16, 2021
ABCG87Sep 2, 2021
ABHD122Sep 2, 2021
ABL11Dec 16, 2021
ACAD93Sep 2, 2021
ACADM2Oct 15, 2021
ACADS1Sep 2, 2021
ACADVL1Sep 2, 2021
ACAN5Dec 16, 2021
ACAT12Sep 2, 2021
ACBD61Apr 4, 2018
ACD1Sep 2, 2021
ACE1Sep 2, 2021
ACO23Sep 2, 2021
ACSF310Sep 2, 2021
ACSL41Sep 2, 2021
ACTA21Sep 2, 2021
ACTB2Sep 2, 2021
ACTC110Oct 4, 2021
ACTG13Oct 4, 2021
ACTN235Dec 16, 2021
ACTN41Apr 4, 2018
ACVR2B3Apr 4, 2018
ACVRL12Apr 4, 2018
ACYP11Sep 2, 2021
ADA23Dec 16, 2021
ADAM171Sep 2, 2021
ADAMTS102Sep 2, 2021
ADAMTS1710Apr 4, 2018
ADAMTS184Sep 2, 2021
ADAMTS210Apr 4, 2018
ADAMTSL29Apr 4, 2018
ADAMTSL42Apr 4, 2018
ADAR9Oct 15, 2021
ADCY58Dec 16, 2021
ADGRG13Sep 2, 2021
ADGRV130Oct 4, 2021
AFF23Sep 2, 2021
AFG3L23Sep 2, 2021
AGA3Apr 4, 2018
AGL1Apr 4, 2018
AGT2Sep 2, 2021
AGTR21Apr 4, 2018
AHCY1Sep 2, 2021
AHDC11Sep 2, 2021
AHI15Oct 4, 2021
AHNAK1Sep 2, 2021
AICDA2Apr 4, 2018
AIFM11Sep 2, 2021
AIP4Sep 2, 2021
AIPL11Sep 2, 2021
AIRE6Sep 2, 2021
AK21Oct 4, 2021
AKAP913Oct 4, 2021
AKR1D11Sep 2, 2021
AKT21Sep 2, 2021
ALAD1Apr 4, 2018
ALDH18A12Apr 4, 2018
ALDH3A25Sep 2, 2021
ALDH4A13Sep 2, 2021
ALDH5A13Sep 2, 2021
ALDH7A12Oct 15, 2021
ALG11Sep 2, 2021
ALG121Sep 2, 2021
ALG133Oct 15, 2021
ALG64Sep 2, 2021
ALG85Dec 16, 2021
ALG91Oct 4, 2021
ALK11Apr 4, 2018
ALMS122Oct 4, 2021
ALOXE33Sep 2, 2021
ALPK316Dec 16, 2021
ALPL5Sep 2, 2021
ALS23Sep 2, 2021
ALX43Sep 2, 2021
AMER13Sep 2, 2021
AMH3Sep 2, 2021
AMOT1Oct 4, 2021
AMT2Apr 4, 2018
ANK16Apr 4, 2018
ANK27Apr 4, 2018
ANK31Sep 2, 2021
ANKRD114Sep 2, 2021
ANKRD116Dec 16, 2021
ANKRD261Sep 2, 2021
ANKS62Dec 16, 2021
ANO105Apr 4, 2018
ANO34Sep 2, 2021
ANO515Oct 15, 2021
ANOS12Oct 4, 2021
AP3B11Sep 2, 2021
AP3D12Oct 4, 2021
AP4B15Oct 15, 2021
AP4B1-AS16Oct 15, 2021
AP4E13Apr 4, 2018
AP4M12Sep 2, 2021
AP5Z11Sep 2, 2021
APC32Oct 4, 2021
APOA11Oct 4, 2021
APOA22Oct 15, 2021
APOA52Oct 4, 2021
APOB55Dec 16, 2021
APOC23Oct 4, 2021
APOC31Apr 4, 2018
APOC4-APOC23Oct 4, 2021
APOE2Sep 2, 2021
APTX3Oct 4, 2021
AQP22Sep 2, 2021
AQP5-AS11Sep 2, 2021
AR1Sep 2, 2021
ARFGEF21Apr 4, 2018
ARG12Apr 4, 2018
ARHGAP312Sep 2, 2021
ARHGEF105Apr 4, 2018
ARHGEF61Apr 4, 2018
ARHGEF91Sep 2, 2021
ARID1A4Sep 2, 2021
ARID1B13Oct 15, 2021
ARL13B1Apr 4, 2018
ARL62Sep 2, 2021
ARSA12Sep 2, 2021
ARSB4Sep 2, 2021
ARSL2Sep 2, 2021
ARVCF1Sep 2, 2021
ARX3Sep 2, 2021
ASAH18Oct 4, 2021
ASCC11Dec 16, 2021
ASCC31Sep 2, 2021
ASCL15Oct 15, 2021
ASL1Sep 2, 2021
ASPA2Oct 15, 2021
ASPM15Apr 4, 2018
ASS11Apr 4, 2018
ASXL13Sep 2, 2021
ASXL31Sep 2, 2021
ATAD3A1Dec 16, 2021
ATCAY1Apr 4, 2018
ATL12Sep 2, 2021
ATM74Dec 16, 2021
ATN14Oct 15, 2021
ATP13A214Dec 16, 2021
ATP1A21Sep 2, 2021
ATP1A310Sep 2, 2021
ATP2A12Apr 4, 2018
ATP2A23Oct 15, 2021
ATP2B37Apr 4, 2018
ATP2C11Oct 15, 2021
ATP6AP11Sep 2, 2021
ATP6V0A24Sep 2, 2021
ATP6V0A44Sep 2, 2021
ATP6V1B11Sep 2, 2021
ATP7A6Dec 16, 2021
ATP7B19Dec 16, 2021
ATP8A21Oct 4, 2021
ATP8B16Sep 2, 2021
ATP8B1-AS11Sep 2, 2021
ATR7Sep 2, 2021
ATRIP5Dec 16, 2021
ATRIP-TREX15Dec 16, 2021
ATRX5Sep 2, 2021
ATXN11Sep 2, 2021
AUTS24Oct 15, 2021
AVPR25Oct 15, 2021
AXIN210Oct 4, 2021
B3GALNT21Oct 4, 2021
B3GAT33Sep 2, 2021
B3GLCT4Sep 2, 2021
B4GALT72Apr 4, 2018
B9D11Apr 4, 2018
B9D21Apr 4, 2018
BAG322Oct 4, 2021
BAP11Sep 2, 2021
BARD12Dec 16, 2021
BBS14Sep 2, 2021
BBS102Sep 2, 2021
BBS125Apr 4, 2018
BBS23Sep 2, 2021
BBS47Oct 4, 2021
BBS51Sep 2, 2021
BBS72Apr 4, 2018
BBS95Oct 4, 2021
BCAP311Oct 15, 2021
BCKDHA3Apr 4, 2018
BCKDHB1Oct 4, 2021
BCOR5Oct 4, 2021
BCORL11Oct 15, 2021
BEST16Sep 2, 2021
BFSP22Oct 4, 2021
BFSP2-AS12Oct 4, 2021
BIN12Sep 2, 2021
BIVM-ERCC52Oct 4, 2021
BLM2Sep 2, 2021
BLTP11Sep 2, 2021
BMP21Oct 15, 2021
BMP43Dec 16, 2021
BMPR21Oct 4, 2021
BRAT14Sep 2, 2021
BRCA1150Dec 16, 2021
BRCA2200Dec 16, 2021
BRD21Sep 2, 2021
BRIP15Sep 2, 2021
BRWD34Dec 16, 2021
BSCL21Sep 2, 2021
BTD2Oct 4, 2021
BUB1B1Sep 2, 2021
C11orf6527Dec 16, 2021
C12orf571Sep 2, 2021
C19orf125Sep 2, 2021
C1QA1Sep 2, 2021
C1QB1Sep 2, 2021
C23Sep 2, 2021
C2-AS11Sep 2, 2021
C2CD32Sep 2, 2021
C2orf492Oct 4, 2021
C39Sep 2, 2021
C4A1Sep 2, 2021
C4B1Oct 15, 2021
C53Sep 2, 2021
C65Dec 16, 2021
C75Oct 15, 2021
C8A1Sep 2, 2021
C8B3Oct 4, 2021
C94Oct 4, 2021
C9orf722Apr 4, 2018
CACNA1A18Oct 15, 2021
CACNA1B7Oct 4, 2021
CACNA1C9Dec 16, 2021
CACNA1C-AS15Oct 15, 2021
CACNA1D6Oct 15, 2021
CACNA1E1Dec 16, 2021
CACNA1F4Sep 2, 2021
CACNA1H8Sep 2, 2021
CACNA1S8Sep 2, 2021
CACNA2D11Oct 4, 2021
CACNB22Apr 4, 2018
CACNB43Sep 2, 2021
CAD1Oct 4, 2021
CALR311Oct 15, 2021
CAMTA12Sep 2, 2021
CAPN11Sep 2, 2021
CAPN101Oct 15, 2021
CAPN31Sep 2, 2021
CARD143Oct 15, 2021
CARD91Sep 2, 2021
CARMIL21Sep 2, 2021
CASD14Dec 16, 2021
CASK1Sep 2, 2021
CASP104Sep 2, 2021
CASQ25Oct 4, 2021
CASR6Oct 4, 2021
CAST1Sep 2, 2021
CATIP-AS22Dec 16, 2021
CAV11Sep 2, 2021
CAV36Oct 4, 2021
CAVIN11Oct 15, 2021
CBL2Sep 2, 2021
CBS5Oct 4, 2021
CC2D1A1Apr 4, 2018
CC2D2A6Sep 2, 2021
CCBE13Oct 4, 2021
CCDC221Sep 2, 2021
CCDC393Sep 2, 2021
CCDC4012Sep 2, 2021
CCDC88C5Oct 4, 2021
CCDST13Dec 16, 2021
CCND21Sep 2, 2021
CCT55Apr 4, 2018
CD1511Sep 2, 2021
CD2AP1Apr 4, 2018
CD3D1Apr 4, 2018
CD3E2Apr 4, 2018
CD401Apr 4, 2018
CD40LG2Apr 4, 2018
CD79A1Sep 2, 2021
CD961Sep 2, 2021
CDAN11Sep 2, 2021
CDH114Oct 15, 2021
CDH151Oct 15, 2021
CDH21Dec 16, 2021
CDH238Oct 4, 2021
CDH23-AS12Sep 2, 2021
CDHR14Sep 2, 2021
CDK132Sep 2, 2021
CDK5RAP26Sep 2, 2021
CDKL54Apr 4, 2018
CDKN1A1Sep 2, 2021
CDKN1B2Apr 4, 2018
CDKN2A4Oct 4, 2021
CDON7Oct 15, 2021
CDSN2Sep 2, 2021
CDT12Apr 4, 2018
CEBPA1Sep 2, 2021
CEL2Dec 16, 2021
CENPJ3Sep 2, 2021
CEP1041Sep 2, 2021
CEP1281Oct 4, 2021
CEP1351Apr 4, 2018
CEP1523Sep 2, 2021
CEP1644Sep 2, 2021
CEP2909Sep 2, 2021
CEP411Sep 2, 2021
CEP832Sep 2, 2021
CEP85L3Oct 4, 2021
CEP891Sep 2, 2021
CERKL7Oct 4, 2021
CETP2Apr 4, 2018
CFB1Sep 2, 2021
CFC11Sep 2, 2021
CFD1Sep 2, 2021
CFH6Dec 16, 2021
CFHR52Oct 4, 2021
CFI3Sep 2, 2021
CFL21Sep 2, 2021
CFP2Oct 15, 2021
CFTR74Dec 16, 2021
CFTR-AS110Dec 16, 2021
CHAT2Oct 4, 2021
CHD24Sep 2, 2021
CHD31Oct 4, 2021
CHD712Sep 2, 2021
CHD82Dec 16, 2021
CHEK233Dec 16, 2021
CHM1Sep 2, 2021
CHMP2B1Sep 2, 2021
CHRNA21Apr 4, 2018
CHRNA44Oct 4, 2021
CHRNB21Apr 4, 2018
CHRNG2Sep 2, 2021
CHROMR1Apr 4, 2018
CHST31Apr 4, 2018
CITED22Oct 15, 2021
CIZ13Sep 2, 2021
CLCN13Sep 2, 2021
CLCN22Sep 2, 2021
CLCN72Sep 2, 2021
CLCNKB11Sep 2, 2021
CLIC51Sep 2, 2021
CLN54Sep 2, 2021
CLN62Oct 4, 2021
CLTC1Oct 15, 2021
CNGA31Sep 2, 2021
CNGB17Sep 2, 2021
CNGB32Sep 2, 2021
CNOT31Oct 15, 2021
CNTNAP27Sep 2, 2021
COCH1Apr 4, 2018
COG12Dec 16, 2021
COG63Sep 2, 2021
COL10A11Oct 15, 2021
COL11A17Dec 16, 2021
COL11A211Sep 2, 2021
COL17A13Sep 2, 2021
COL18A17Oct 15, 2021
COL1A12Sep 2, 2021
COL1A27Oct 4, 2021
COL2A111Oct 4, 2021
COL3A14Sep 2, 2021
COL4A122Dec 16, 2021
COL4A216Dec 16, 2021
COL4A2-AS14Oct 15, 2021
COL4A2-AS22Sep 2, 2021
COL4A37Oct 4, 2021
COL4A43Sep 2, 2021
COL4A61Sep 2, 2021
COL5A17Sep 2, 2021
COL5A23Sep 2, 2021
COL6A110Sep 2, 2021
COL6A210Oct 4, 2021
COL6A37Sep 2, 2021
COL7A122Sep 2, 2021
COL9A12Sep 2, 2021
COL9A37Sep 2, 2021
COLQ1Sep 2, 2021
COMT5Sep 2, 2021
COQ23Apr 4, 2018
COQ8A8Sep 2, 2021
COX104Oct 4, 2021
COX151Sep 2, 2021
COX201Sep 2, 2021
CP8Sep 2, 2021
CPLANE18Oct 4, 2021
CPOX2Apr 4, 2018
CPS15Sep 2, 2021
CPT1A2Sep 2, 2021
CPT23Sep 2, 2021
CR21Dec 16, 2021
CRADD1Oct 4, 2021
CRB11Sep 2, 2021
CREBBP7Dec 16, 2021
CRELD12Sep 2, 2021
CRLF11Sep 2, 2021
CRPPA2Apr 4, 2018
CRTAP5Sep 2, 2021
CRYAA1Sep 2, 2021
CRYAB8Sep 2, 2021
CRYBA11Oct 4, 2021
CRYBB31Sep 2, 2021
CRYGD1Sep 2, 2021
CSF3R1Sep 2, 2021
CSRP313Oct 4, 2021
CTC15Oct 4, 2021
CTCF1Oct 4, 2021
CTDP14Sep 2, 2021
CTNNA13Oct 4, 2021
CTNNA317Oct 15, 2021
CTNNB11Sep 2, 2021
CTNND11Sep 2, 2021
CTNND21Oct 4, 2021
CTNS2Sep 2, 2021
CTNS-AS11Sep 2, 2021
CTSA2Dec 16, 2021
CTSC2Sep 2, 2021
CTSD2Apr 4, 2018
CUBN1Sep 2, 2021
CUL4B1Apr 4, 2018
CUL72Sep 2, 2021
CUX21Sep 2, 2021
CXCR41Oct 4, 2021
CYBA2Sep 2, 2021
CYLD-AS11Sep 2, 2021
CYP11B13Sep 2, 2021
CYP11B24Sep 2, 2021
CYP17A11Sep 2, 2021
CYP19A14Sep 2, 2021
CYP1B11Sep 2, 2021
CYP21A26Dec 16, 2021
CYP24A12Sep 2, 2021
CYP27A16Oct 4, 2021
CYP2B61Apr 4, 2018
CYP2R11Sep 2, 2021
CYP4V24Sep 2, 2021
CYP7B12Sep 2, 2021
DAG12Oct 4, 2021
DARS21Sep 2, 2021
DBH1Sep 2, 2021
DBT1Sep 2, 2021
DCAF175Sep 2, 2021
DCAF81Oct 4, 2021
DCC1Sep 2, 2021
DCHS17Oct 4, 2021
DCLRE1B1Oct 4, 2021
DCLRE1C1Sep 2, 2021
DCT1Oct 4, 2021
DDC4Sep 2, 2021
DDHD14Sep 2, 2021
DDHD21Sep 2, 2021
DDOST1Sep 2, 2021
DDX111Sep 2, 2021
DDX3X1Oct 4, 2021
DENND5A1Oct 15, 2021
DEPDC52Sep 2, 2021
DES25Dec 16, 2021
DES-LCR1Sep 2, 2021
DGKE1Sep 2, 2021
DGUOK3Sep 2, 2021
DGUOK-AS11Apr 4, 2018
DHCR241Sep 2, 2021
DHCR714Dec 16, 2021
DHFR1Apr 4, 2018
DHTKD19Oct 4, 2021
DIAPH13Sep 2, 2021
DIAPH33Oct 15, 2021
DIAPH3-AS11Oct 15, 2021
DICER19Dec 16, 2021
DISP11Sep 2, 2021
DKC12Sep 2, 2021
DLAT4Sep 2, 2021
DLD3Sep 2, 2021
DLL31Sep 2, 2021
DM1-AS1Oct 4, 2021
DMD59Dec 16, 2021
DMP12Sep 2, 2021
DMPK3Oct 4, 2021
DNAAF14Sep 2, 2021
DNAAF111Apr 4, 2018
DNAAF25Apr 4, 2018
DNAAF310Sep 2, 2021
DNAAF3-AS16Sep 2, 2021
DNAH1119Sep 2, 2021
DNAH524Oct 4, 2021
DNAH61Sep 2, 2021
DNAH81Oct 15, 2021
DNAI13Sep 2, 2021
DNAI24Apr 4, 2018
DNAJC131Oct 4, 2021
DNAJC211Sep 2, 2021
DNMT12Oct 4, 2021
DNMT3B3Sep 2, 2021
DOCK617Oct 15, 2021
DOCK6-AS19Sep 2, 2021
DOCK814Oct 4, 2021
DPAGT12Sep 2, 2021
DPH11Sep 2, 2021
DPM22Apr 4, 2018
DPP65Oct 4, 2021
DPYD3Sep 2, 2021
DSC223Oct 15, 2021
DSC31Sep 2, 2021
DSCAS1Apr 4, 2018
DSG230Oct 15, 2021
DSG2-AS112Oct 15, 2021
DSP75Dec 16, 2021
DSP-AS15Sep 2, 2021
DSPP2Sep 2, 2021
DST8Sep 2, 2021
DTNA21Oct 15, 2021
DUOX25Apr 4, 2018
DUOXA25Apr 4, 2018
DUSP292Sep 2, 2021
DYM1Oct 15, 2021
DYNC1H14Oct 4, 2021
DYNC2H117Sep 2, 2021
DYNC2LI12Dec 16, 2021
DYSF10Oct 4, 2021
EARS23Dec 16, 2021
EBP1Oct 15, 2021
EDA2Sep 2, 2021
EDA2R1Sep 2, 2021
EDAR2Sep 2, 2021
EDNRB1Oct 15, 2021
EDNRB-AS11Oct 15, 2021
EEF1A23Sep 2, 2021
EFEMP21Apr 4, 2018
EFHC12Sep 2, 2021
EFTUD24Sep 2, 2021
EGF2Sep 2, 2021
EGFR1Sep 2, 2021
EGR21Oct 4, 2021
EHMT12Sep 2, 2021
EIF2AK35Sep 2, 2021
EIF2S31Oct 15, 2021
EIF4G16Sep 2, 2021
ELAC21Oct 15, 2021
ELANE1Sep 2, 2021
ELN3Sep 2, 2021
ELP13Apr 4, 2018
ELP41Sep 2, 2021
EMD7Dec 16, 2021
ENG5Oct 4, 2021
ENTREP21Sep 2, 2021
EP3006Dec 16, 2021
EPCAM2Oct 4, 2021
EPG51Sep 2, 2021
EPHB22Sep 2, 2021
EPHB42Oct 4, 2021
EPM2A1Apr 4, 2018
EPM2A-DT1Apr 4, 2018
ERCC27Sep 2, 2021
ERCC31Sep 2, 2021
ERCC41Sep 2, 2021
ERCC52Oct 4, 2021
ERCC69Dec 16, 2021
ERCC6L21Oct 15, 2021
ESCO21Sep 2, 2021
ESPN1Sep 2, 2021
ESR22Apr 4, 2018
ESRRB1Sep 2, 2021
ETFDH1Sep 2, 2021
EVC13Sep 2, 2021
EXOSC31Apr 4, 2018
EYA12Sep 2, 2021
EYA45Sep 2, 2021
EYS9Sep 2, 2021
EZH21Sep 2, 2021
F104Oct 4, 2021
F126Sep 2, 2021
F13A11Sep 2, 2021
F13B3Sep 2, 2021
F21Sep 2, 2021
F511Sep 2, 2021
F73Oct 4, 2021
F81Sep 2, 2021
FA2H2Sep 2, 2021
FAAP241Oct 4, 2021
FAH6Sep 2, 2021
FAM161A1Apr 4, 2018
FAM83H2Apr 4, 2018
FANCA1Oct 4, 2021
FANCB1Oct 15, 2021
FANCD24Sep 2, 2021
FANCI3Sep 2, 2021
FANCL1Sep 2, 2021
FAT21Oct 15, 2021
FAT41Sep 2, 2021
FBLN51Sep 2, 2021
FBN19Oct 4, 2021
FBN29Oct 4, 2021
FBP14Sep 2, 2021
FBXL33Apr 4, 2018
FBXO111Sep 2, 2021
FBXO76Apr 4, 2018
FCN31Oct 4, 2021
FECH4Dec 16, 2021
FERMT32Sep 2, 2021
FGA2Sep 2, 2021
FGD13Sep 2, 2021
FGD42Apr 4, 2018
FGF231Sep 2, 2021
FGF94Sep 2, 2021
FGFR11Sep 2, 2021
FGFR24Sep 2, 2021
FGFR37Oct 4, 2021
FH5Sep 2, 2021
FHL19Oct 15, 2021
FHL22Oct 4, 2021
FHOD32Dec 16, 2021
FIG45Sep 2, 2021
FKBP101Dec 16, 2021
FKTN4Sep 2, 2021
FLCN4Oct 4, 2021
FLG13Dec 16, 2021
FLNA13Oct 4, 2021
FLNB4Sep 2, 2021
FLNC16Oct 15, 2021
FLNC-AS14Oct 4, 2021
FLT45Oct 4, 2021
FLVCR15Sep 2, 2021
FMO33Sep 2, 2021
FMR11Sep 2, 2021
FN19Sep 2, 2021
FN1-DT1Sep 2, 2021
FOLR11Apr 4, 2018
FOXC12Oct 4, 2021
FOXE12Apr 4, 2018
FOXG12Apr 4, 2018
FOXH12Sep 2, 2021
FOXI12Sep 2, 2021
FOXRED11Sep 2, 2021
FPGT-TNNI3K5Dec 16, 2021
FPR11Sep 2, 2021
FRAS132Oct 4, 2021
FREM110Sep 2, 2021
FREM24Sep 2, 2021
FRG11Sep 2, 2021
FRMD4A2Sep 2, 2021
FRMD71Oct 15, 2021
FTCD2Sep 2, 2021
FTH13Sep 2, 2021
FTL2Sep 2, 2021
FUCA12Oct 4, 2021
FUS3Sep 2, 2021
FXN1Apr 4, 2018
G6PC11Oct 4, 2021
G6PD3Sep 2, 2021
GAA21Apr 4, 2018
GABRA13Sep 2, 2021
GABRD1Apr 4, 2018
GAD11Sep 2, 2021
GALC14Oct 4, 2021
GALK12Oct 15, 2021
GALNS5Sep 2, 2021
GAMT1Apr 4, 2018
GAREM21Dec 16, 2021
GARS14Oct 4, 2021
GATA21Sep 2, 2021
GATA41Sep 2, 2021
GATA55Sep 2, 2021
GATAD14Sep 2, 2021
GATM3Apr 4, 2018
GBA16Oct 15, 2021
GBE14Dec 16, 2021
GCDH5Oct 4, 2021
GCH11Sep 2, 2021
GCNT21Sep 2, 2021
GDAP12Oct 4, 2021
GDF51Sep 2, 2021
GDF5-AS11Sep 2, 2021
GDF61Oct 4, 2021
GFAP2Dec 16, 2021
GFI13Dec 16, 2021
GFM13Dec 16, 2021
GH-LCR1Sep 2, 2021
GHR2Sep 2, 2021
GIGYF25Apr 4, 2018
GJA12Sep 2, 2021
GJB29Oct 15, 2021
GJB31Oct 4, 2021
GJB61Sep 2, 2021
GJD2-DT10Oct 4, 2021
GLA7Oct 4, 2021
GLB15Sep 2, 2021
GLDC9Sep 2, 2021
GLE11Sep 2, 2021
GLI210Oct 4, 2021
GLI39Oct 15, 2021
GLIS21Sep 2, 2021
GLIS32Oct 4, 2021
GLMN1Oct 4, 2021
GLRA11Apr 4, 2018
GLYCTK1Sep 2, 2021
GNAL2Oct 4, 2021
GNAQ1Sep 2, 2021
GNAS5Oct 4, 2021
GNE1Oct 4, 2021
GNPTAB2Sep 2, 2021
GNRHR1Sep 2, 2021
GNS4Oct 4, 2021
GORAB2Sep 2, 2021
GORAB-AS11Sep 2, 2021
GOSR23Sep 2, 2021
GPC33Sep 2, 2021
GPC42Dec 16, 2021
GPD1L1Oct 15, 2021
GPHN2Apr 4, 2018
GRHL21Sep 2, 2021
GRHPR2Sep 2, 2021
GRIA31Apr 4, 2018
GRIK22Sep 2, 2021
GRIN11Sep 2, 2021
GRIN2A4Sep 2, 2021
GRIN2B11Oct 4, 2021
GRIN2D1Sep 2, 2021
GRIP16Sep 2, 2021
GRM18Sep 2, 2021
GRM65Sep 2, 2021
GRN3Sep 2, 2021
GRXCR11Sep 2, 2021
GSE12Sep 2, 2021
GSN2Dec 16, 2021
GSS1Sep 2, 2021
GUCA1B1Sep 2, 2021
GUCY2D1Sep 2, 2021
GUSB2Sep 2, 2021
GYS12Oct 15, 2021
GYS23Sep 2, 2021
HADHA1Dec 16, 2021
HARS11Apr 4, 2018
HAVCR22Oct 4, 2021
HBB2Oct 15, 2021
HCFC13Sep 2, 2021
HCN15Oct 15, 2021
HCN426Dec 16, 2021
HDAC411Oct 4, 2021
HERC11Oct 4, 2021
HERC23Sep 2, 2021
HEXA5Sep 2, 2021
HEXB1Apr 4, 2018
HFE3Sep 2, 2021
HFE-AS12Sep 2, 2021
HGD1Sep 2, 2021
HGSNAT1Apr 4, 2018
HK13Oct 4, 2021
HLCS1Oct 4, 2021
HMBS4Sep 2, 2021
HMGCL2Sep 2, 2021
HNF1A2Sep 2, 2021
HNF1B1Sep 2, 2021
HNRNPH21Sep 2, 2021
HNRNPU1Sep 2, 2021
HNRNPUL2-BSCL21Sep 2, 2021
HOGA11Sep 2, 2021
HOXB12Sep 2, 2021
HOXB132Dec 16, 2021
HOXD131Sep 2, 2021
HPGD1Sep 2, 2021
HPRT13Oct 4, 2021
HRAS1Sep 2, 2021
HSD17B44Dec 16, 2021
HSPB32Apr 4, 2018
HSPD11Sep 2, 2021
HSPG22Sep 2, 2021
HTRA12Sep 2, 2021
HTT2Dec 16, 2021
HUWE12Sep 2, 2021
IDS3Sep 2, 2021
IDUA19Oct 15, 2021
IFIH14Dec 16, 2021
IFITM51Apr 4, 2018
IFNAR2-IL10RB1Sep 2, 2021
IFNGR12Sep 2, 2021
IFNGR21Dec 16, 2021
IFT1222Sep 2, 2021
IFT1406Apr 4, 2018
IFT1721Sep 2, 2021
IFT431Sep 2, 2021
IGF1R2Dec 16, 2021
IGHMBP29Oct 4, 2021
IGSF15Oct 4, 2021
IHH2Sep 2, 2021
IKBKG2Dec 16, 2021
IL10RA2Sep 2, 2021
IL10RB1Sep 2, 2021
IL12RB12Apr 4, 2018
IL17RA3Oct 15, 2021
IL1RAPL11Sep 2, 2021
IL1RN2Sep 2, 2021
IL2RG1Sep 2, 2021
IL7R2Sep 2, 2021
ILK7Oct 15, 2021
IMPG23Sep 2, 2021
INCA11Oct 4, 2021
INF26Oct 4, 2021
INO801Sep 2, 2021
INPP5E5Sep 2, 2021
INSR2Dec 16, 2021
INVS3Sep 2, 2021
IQCE1Oct 4, 2021
IQSEC23Sep 2, 2021
IRF2BPL5Dec 16, 2021
IRF81Sep 2, 2021
ITGA2B1Oct 4, 2021
ITGA33Oct 4, 2021
ITGA61Sep 2, 2021
ITGA6-AS11Sep 2, 2021
ITGA71Sep 2, 2021
ITGB23Oct 15, 2021
ITGB33Sep 2, 2021
ITGB44Oct 15, 2021
ITPR112Sep 2, 2021
IVD1Apr 4, 2018
IYD1Apr 4, 2018
JAG19Oct 15, 2021
JAK11Oct 4, 2021
JAK32Oct 4, 2021
JAM32Apr 4, 2018
JMJD1C1Sep 2, 2021
JPH220Oct 4, 2021
JUP30Oct 15, 2021
KALRN2Sep 2, 2021
KANK11Oct 15, 2021
KANK21Sep 2, 2021
KANSL12Oct 4, 2021
KAT6A1Oct 4, 2021
KAT6B5Sep 2, 2021
KBTBD132Sep 2, 2021
KCNA14Sep 2, 2021
KCNA52Oct 4, 2021
KCNB11Oct 15, 2021
KCNC33Apr 4, 2018
KCNE11Sep 2, 2021
KCNE21Oct 4, 2021
KCNE51Oct 4, 2021
KCNH11Sep 2, 2021
KCNH24Oct 4, 2021
KCNJ113Dec 16, 2021
KCNJ21Dec 16, 2021
KCNJ55Sep 2, 2021
KCNK91Sep 2, 2021
KCNMA13Oct 4, 2021
KCNMA1-AS12Oct 4, 2021
KCNQ11Oct 15, 2021
KCNQ27Oct 4, 2021
KCNQ33Sep 2, 2021
KCNQ42Apr 4, 2018
KCNT115Oct 4, 2021
KDM5B1Sep 2, 2021
KDM5C3Sep 2, 2021
KDM6A5Oct 4, 2021
KDM6B4Oct 15, 2021
KDR1Apr 4, 2018
KERA1Sep 2, 2021
KIAA05863Oct 15, 2021
KIF1A4Sep 2, 2021
KIF1B4Oct 4, 2021
KIF1C2Oct 4, 2021
KIF5A1Sep 2, 2021
KIF710Sep 2, 2021
KIFBP2Apr 4, 2018
KIRREL31Oct 15, 2021
KISS11Sep 2, 2021
KISS1R1Sep 2, 2021
KIT2Sep 2, 2021
KLKB11Sep 2, 2021
KLLN1Sep 2, 2021
KMT2B2Sep 2, 2021
KMT2C2Oct 4, 2021
KMT2D11Oct 15, 2021
KRAS3Oct 4, 2021
KRT11Sep 2, 2021
KRT103Dec 16, 2021
KRT10-AS11Sep 2, 2021
KRT131Sep 2, 2021
KRT183Oct 15, 2021
KRT6B1Apr 4, 2018
KRT83Oct 15, 2021
KRT851Oct 4, 2021
KRT91Sep 2, 2021
L1CAM2Sep 2, 2021
L2HGDH1Oct 4, 2021
LAMA218Dec 16, 2021
LAMA450Oct 4, 2021
LAMA4-AS12Apr 4, 2018
LAMB11Sep 2, 2021
LAMB32Sep 2, 2021
LAMC317Sep 2, 2021
LAMP211Oct 15, 2021
LARGE12Sep 2, 2021
LCA52Sep 2, 2021
LCT6Sep 2, 2021
LDB336Dec 16, 2021
LDLR64Dec 16, 2021
LDLR-AS11Apr 4, 2018
LDLRAP12Oct 4, 2021
LEPR3Apr 4, 2018
LFNG1Sep 2, 2021
LGI11Oct 4, 2021
LHB4Apr 4, 2018
LHCGR3Oct 15, 2021
LHX41Apr 4, 2018
LHX4-AS11Apr 4, 2018
LIG11Oct 15, 2021
LIG42Sep 2, 2021
LINC006303Sep 2, 2021
LIPA2Oct 4, 2021
LIPC7Oct 4, 2021
LITAF1Apr 4, 2018
LIX1L-AS12Sep 2, 2021
LMBRD11Apr 4, 2018
LMF12Dec 16, 2021
LMNA32Oct 4, 2021
LMOD12Oct 15, 2021
LMX1B2Sep 2, 2021
LOC1001330772Sep 2, 2021
LOC1005060711Apr 4, 2018
LOC1005062351Sep 2, 2021
LOC1005073461Sep 2, 2021
LOC1005074431Sep 2, 2021
LOC1014482021Sep 2, 2021
LOC1019270559Oct 15, 2021
LOC1019283711Apr 4, 2018
LOC1019297101Sep 2, 2021
LOC1027235661Apr 4, 2018
LOC1027240585Sep 2, 2021
LOC1053691491Apr 4, 2018
LOC1053708901Sep 2, 2021
LOC1053710462Apr 4, 2018
LOC1053715668Sep 2, 2021
LOC1053727911Oct 4, 2021
LOC1059435861Oct 4, 2021
LOC1060293121Sep 2, 2021
LOC1060501023Sep 2, 2021
LOC1060964163Oct 15, 2021
LOC1060990622Oct 15, 2021
LOC10650171310Sep 2, 2021
LOC1065602112Oct 4, 2021
LOC1066279816Oct 15, 2021
LOC1066943161Sep 2, 2021
LOC1067808005Dec 16, 2021
LOC1067998331Sep 2, 2021
LOC1067998344Sep 2, 2021
LOC1070753171Oct 4, 2021
LOC1071335102Oct 15, 2021
LOC1073033384Sep 2, 2021
LOC1073033401Sep 2, 2021
LOC1073723151Sep 2, 2021
LOC1079822343Sep 2, 2021
LOC1079880321Sep 2, 2021
LOC1082811342Sep 2, 2021
LOC1084918251Oct 4, 2021
LOC1086639851Sep 2, 2021
LOC1086639965Oct 4, 2021
LOC1089031481Sep 2, 2021
LOC1094614791Dec 16, 2021
LOC1094614843Oct 4, 2021
LOC1101212697Oct 4, 2021
LOC1101214863Sep 2, 2021
LOC1108062631Sep 2, 2021
LOC1116744631Sep 2, 2021
LOC1116744725Sep 2, 2021
LOC1116744757Sep 2, 2021
LOC1116744771Sep 2, 2021
LOC1117184931Dec 16, 2021
LOC1129975401Apr 4, 2018
LOC1136338771Sep 2, 2021
LOC1136641061Sep 2, 2021
LOC1148278271Oct 4, 2021
LOC1148278501Apr 4, 2018
LOC1148278519Oct 4, 2021
LOC1153081612Oct 15, 2021
LOC1170387951Oct 4, 2021
LOC1208931161Sep 2, 2021
LOC1218159641Oct 15, 2021
LOC1249038271Oct 4, 2021
LOC1251773931Sep 2, 2021
LOC1251775231Oct 15, 2021
LOC1253714391Sep 2, 2021
LOC1268055861Sep 2, 2021
LOC1268056031Sep 2, 2021
LOC1268056701Apr 4, 2018
LOC1268056731Sep 2, 2021
LOC1268057491Oct 4, 2021
LOC1268057652Sep 2, 2021
LOC1268058512Sep 2, 2021
LOC1268058742Sep 2, 2021
LOC1268058773Sep 2, 2021
LOC1268059162Sep 2, 2021
LOC1268060673Oct 4, 2021
LOC1268060682Oct 15, 2021
LOC1268062522Sep 2, 2021
LOC1268063532Sep 2, 2021
LOC1268064205Sep 2, 2021
LOC1268064217Oct 4, 2021
LOC12680642213Oct 4, 2021
LOC1268064233Sep 2, 2021
LOC1268064249Oct 4, 2021
LOC1268064256Dec 16, 2021
LOC1268064262Sep 2, 2021
LOC1268064276Oct 4, 2021
LOC1268064288Oct 15, 2021
LOC1268064292Oct 4, 2021
LOC12680643010Dec 16, 2021
LOC1268064314Oct 4, 2021
LOC12680643210Oct 4, 2021
LOC1268064332Oct 4, 2021
LOC1268064981Sep 2, 2021
LOC1268065731Sep 2, 2021
LOC1268065831Sep 2, 2021
LOC1268065902Sep 2, 2021
LOC1268066301Oct 4, 2021
LOC1268070892Apr 4, 2018
LOC1268071241Apr 4, 2018
LOC1268071341Sep 2, 2021
LOC1268071361Apr 4, 2018
LOC1268071372Apr 4, 2018
LOC1268073921Apr 4, 2018
LOC1268076321Oct 4, 2021
LOC1268598271Sep 2, 2021
LOC1268598361Sep 2, 2021
LOC1268598372Oct 4, 2021
LOC1268598711Sep 2, 2021
LOC1268599611Sep 2, 2021
LOC1268600892Oct 4, 2021
LOC1268603923Sep 2, 2021
LOC1268604032Sep 2, 2021
LOC1268605521Sep 2, 2021
LOC1268609331Sep 2, 2021
LOC1268612451Apr 4, 2018
LOC1268613651Sep 2, 2021
LOC1268615381Sep 2, 2021
LOC1268616151Sep 2, 2021
LOC1268618341Apr 4, 2018
LOC1268618968Oct 4, 2021
LOC12686189713Dec 16, 2021
LOC1268618986Oct 15, 2021
LOC1268620601Oct 4, 2021
LOC1268621731Sep 2, 2021
LOC1268622161Sep 2, 2021
LOC1268622601Apr 4, 2018
LOC1268622644Sep 2, 2021
LOC1268624221Apr 4, 2018
LOC1268624472Sep 2, 2021
LOC1268624931Oct 4, 2021
LOC1268624941Oct 4, 2021
LOC12686257124Dec 16, 2021
LOC1268626341Sep 2, 2021
LOC1268627451Apr 4, 2018
LOC1268628601Apr 4, 2018
LOC1268630841Sep 2, 2021
LOC1268632391Apr 4, 2018
LOC1268632531Oct 4, 2021
LOC1268632631Sep 2, 2021
LOC1274071291Dec 16, 2021
LOC1278934501Apr 4, 2018
LOC1287722541Sep 2, 2021
LOC1293913061Sep 2, 2021
LOC1299290272Dec 16, 2021
LOC1299300681Oct 4, 2021
LOC1299315972Sep 2, 2021
LOC1299324861Apr 4, 2018
LOC1299340961Sep 2, 2021
LOC1299351833Sep 2, 2021
LOC1299351841Sep 2, 2021
LOC1299351861Sep 2, 2021
LOC1299364342Sep 2, 2021
LOC1299364361Sep 2, 2021
LOC1299374061Sep 2, 2021
LOC1299923042Oct 4, 2021
LOC1299928131Oct 15, 2021
LOC1299935261Apr 4, 2018
LOC1299937341Oct 4, 2021
LOC1299939181Apr 4, 2018
LOC1299944601Sep 2, 2021
LOC1299951241Sep 2, 2021
LOC1299973071Sep 2, 2021
LOC1299973811Apr 4, 2018
LOC1299980051Apr 4, 2018
LOC1299987931Apr 4, 2018
LOC1300002861Apr 4, 2018
LOC1300006221Oct 4, 2021
LOC1300014111Sep 2, 2021
LOC1300018621Apr 4, 2018
LOC1300030981Sep 2, 2021
LOC1300035541Sep 2, 2021
LOC1300041091Sep 2, 2021
LOC1300045991Oct 15, 2021
LOC1300051931Sep 2, 2021
LOC1300052011Sep 2, 2021
LOC1300055491Sep 2, 2021
LOC1300062061Sep 2, 2021
LOC1300065962Apr 4, 2018
LOC1300068951Sep 2, 2021
LOC1300072321Sep 2, 2021
LOC1300091171Sep 2, 2021
LOC1300095731Apr 4, 2018
LOC1300099131Sep 2, 2021
LOC1300554031Sep 2, 2021
LOC1300555421Apr 4, 2018
LOC1300556921Sep 2, 2021
LOC1300558501Sep 2, 2021
LOC1300562261Sep 2, 2021
LOC1300567091Sep 2, 2021
LOC1300569311Sep 2, 2021
LOC1300569911Apr 4, 2018
LOC1300570191Sep 2, 2021
LOC1300573631Dec 16, 2021
LOC1300578891Sep 2, 2021
LOC1300580371Apr 4, 2018
LOC1300590641Apr 4, 2018
LOC1300595551Apr 4, 2018
LOC1300597181Apr 4, 2018
LOC1300598181Sep 2, 2021
LOC1300609031Oct 4, 2021
LOC1300622541Oct 4, 2021
LOC1300622551Sep 2, 2021
LOC1300623401Sep 2, 2021
LOC1300628991Sep 2, 2021
LOC1300653454Sep 2, 2021
LOC1300669601Sep 2, 2021
LOC1300678621Oct 15, 2021
LOC1300683081Sep 2, 2021
LOC1300684941Oct 4, 2021
LOC1300686211Sep 2, 2021
LOC1300686791Sep 2, 2021
LOC1320898292Sep 2, 2021
LOC1320905951Sep 2, 2021
LOXHD12Sep 2, 2021
LPIN11Sep 2, 2021
LPIN23Dec 16, 2021
LPL3Oct 4, 2021
LRBA7Oct 4, 2021
LRP225Dec 16, 2021
LRP43Sep 2, 2021
LRP55Oct 15, 2021
LRPPRC3Dec 16, 2021
LRRC37A23Sep 2, 2021
LRRC532Dec 16, 2021
LRRC561Sep 2, 2021
LRRK29Sep 2, 2021
LRSAM14Apr 4, 2018
LTBP23Sep 2, 2021
LTBP32Sep 2, 2021
LTBP46Sep 2, 2021
LYST1Sep 2, 2021
LZTR13Oct 4, 2021
MACF13Oct 15, 2021
MAF1Apr 4, 2018
MAGEL21Sep 2, 2021
MAGT11Sep 2, 2021
MAML22Dec 16, 2021
MAN2B14Sep 2, 2021
MANBA1Sep 2, 2021
MAOA1Sep 2, 2021
MAP2K23Oct 4, 2021
MAP3K16Apr 4, 2018
MAP3K71Sep 2, 2021
MAP3K81Sep 2, 2021
MAPK11Sep 2, 2021
MAPT1Sep 2, 2021
MARS11Oct 4, 2021
MASP22Sep 2, 2021
MAT1A3Sep 2, 2021
MAX1Sep 2, 2021
MBD53Oct 4, 2021
MC4R2Apr 4, 2018
MCCC13Sep 2, 2021
MCCC22Sep 2, 2021
MCM41Sep 2, 2021
MCPH110Sep 2, 2021
MCPH1-AS15Apr 4, 2018
MEA11Sep 2, 2021
MECP217Oct 15, 2021
MED128Sep 2, 2021
MED131Dec 16, 2021
MED13L1Sep 2, 2021
MED175Apr 4, 2018
MED232Apr 4, 2018
MEF2C1Sep 2, 2021
MEFV18Oct 4, 2021
MEGF102Sep 2, 2021
MEN18Oct 15, 2021
MESP11Sep 2, 2021
MET7Sep 2, 2021
MFF-DT7Oct 4, 2021
MFN21Sep 2, 2021
MFSD81Oct 4, 2021
MGAT21Apr 4, 2018
MHRT19Dec 16, 2021
MIB110Oct 4, 2021
MID12Oct 4, 2021
MILR11Sep 2, 2021
MIR4713HG4Sep 2, 2021
MIR68862Oct 4, 2021
MKS11Sep 2, 2021
MLH131Dec 16, 2021
MLH33Oct 4, 2021
MLYCD3Apr 4, 2018
MMAA1Apr 4, 2018
MMAB3Apr 4, 2018
MMACHC3Sep 2, 2021
MMADHC1Apr 4, 2018
MMP22Sep 2, 2021
MMP211Sep 2, 2021
MMUT6Oct 15, 2021
MOCS13Sep 2, 2021
MOCS21Sep 2, 2021
MPI4Apr 4, 2018
MPO3Sep 2, 2021
MRE111Oct 4, 2021
MRTFA1Sep 2, 2021
MS4A11Sep 2, 2021
MSH226Oct 15, 2021
MSH31Apr 4, 2018
MSH642Dec 16, 2021
MSX11Sep 2, 2021
MSX21Sep 2, 2021
MTHFR2Sep 2, 2021
MTM12Sep 2, 2021
MTMR21Apr 4, 2018
MTOR2Dec 16, 2021
MTPAP2Apr 4, 2018
MTR5Oct 4, 2021
MTRFR1Sep 2, 2021
MTRR3Oct 4, 2021
MTTP6Apr 4, 2018
MUC5B1Oct 15, 2021
MUC5B-AS11Oct 15, 2021
MUSK1Sep 2, 2021
MUTYH13Oct 4, 2021
MVK4Sep 2, 2021
MVP-DT3Sep 2, 2021
MYBPC12Sep 2, 2021
MYBPC388Oct 15, 2021
MYH113Apr 4, 2018
MYH148Oct 4, 2021
MYH151Oct 15, 2021
MYH24Apr 4, 2018
MYH315Dec 16, 2021
MYH690Oct 15, 2021
MYH795Dec 16, 2021
MYH85Oct 4, 2021
MYH96Dec 16, 2021
MYHAS9Oct 4, 2021
MYL210Oct 4, 2021
MYL34Sep 2, 2021
MYLK10Oct 4, 2021
MYLK26Sep 2, 2021
MYO15A15Sep 2, 2021
MYO1A1Sep 2, 2021
MYO1E1Sep 2, 2021
MYO3A9Sep 2, 2021
MYO5B5Sep 2, 2021
MYO62Sep 2, 2021
MYO7A3Sep 2, 2021
MYOT1Sep 2, 2021
MYOZ15Sep 2, 2021
MYOZ25Apr 4, 2018
MYPN33Dec 16, 2021
MYT1L5Sep 2, 2021
NAA102Sep 2, 2021
NAGLU8Oct 15, 2021
NAGS2Apr 4, 2018
NAT101Oct 15, 2021
NBAS14Oct 4, 2021
NBEA3Dec 16, 2021
NBEAL27Dec 16, 2021
NBN9Dec 16, 2021
NCAPH26Oct 15, 2021
NCF11Sep 2, 2021
NCF22Sep 2, 2021
NCR12Apr 4, 2018
NDE13Apr 4, 2018
NDRG11Apr 4, 2018
NDUFA11Sep 2, 2021
NDUFA111Oct 4, 2021
NDUFA122Sep 2, 2021
NDUFAF21Sep 2, 2021
NDUFAF52Sep 2, 2021
NDUFAF61Sep 2, 2021
NDUFS12Oct 4, 2021
NDUFS32Oct 15, 2021
NDUFS73Sep 2, 2021
NDUFS81Sep 2, 2021
NEB3Sep 2, 2021
NEBL2Sep 2, 2021
NECTIN11Apr 4, 2018
NEFL1Oct 4, 2021
NEK12Sep 2, 2021
NEXMIF1Sep 2, 2021
NEXN21Oct 15, 2021
NF125Oct 4, 2021
NF21Sep 2, 2021
NFAT53Oct 4, 2021
NFKB23Oct 15, 2021
NFKBIA1Apr 4, 2018
NFU11Sep 2, 2021
NGF1Apr 4, 2018
NGF-AS11Apr 4, 2018
NGLY11Sep 2, 2021
NHERF11Apr 4, 2018
NHLRC12Apr 4, 2018
NHS3Oct 15, 2021
NIPA12Sep 2, 2021
NIPAL43Sep 2, 2021
NIPBL4Oct 4, 2021
NKX2-11Sep 2, 2021
NKX2-53Oct 4, 2021
NLGN4X4Oct 4, 2021
NLRC41Oct 15, 2021
NLRP11Sep 2, 2021
NLRP123Oct 15, 2021
NLRP37Oct 15, 2021
NLRP77Sep 2, 2021
NNT2Sep 2, 2021
NOD28Oct 15, 2021
NOP101Sep 2, 2021
NOTCH117Oct 4, 2021
NOTCH210Oct 4, 2021
NOTCH311Dec 16, 2021
NPC129Oct 4, 2021
NPC24Oct 4, 2021
NPHP11Sep 2, 2021
NPHP33Sep 2, 2021
NPHP3-ACAD113Sep 2, 2021
NPHP48Oct 4, 2021
NPHS17Sep 2, 2021
NPHS21Apr 4, 2018
NPPA1Oct 4, 2021
NPPA-AS11Oct 4, 2021
NR0B11Sep 2, 2021
NR2E31Oct 4, 2021
NR3C23Sep 2, 2021
NR5A11Sep 2, 2021
NRXN16Oct 4, 2021
NSD17Sep 2, 2021
NSDHL2Sep 2, 2021
NSMCE31Sep 2, 2021
NSUN61Apr 4, 2018
NT5DC11Oct 15, 2021
NT5E2Sep 2, 2021
NTHL11Sep 2, 2021
NTNG11Sep 2, 2021
NTRK16Oct 15, 2021
NUBPL1Sep 2, 2021
OAT3Sep 2, 2021
OBSL114Sep 2, 2021
OCA23Oct 15, 2021
OCRL3Oct 15, 2021
ODAD21Sep 2, 2021
ODC11Oct 15, 2021
OFD15Oct 4, 2021
OPA12Sep 2, 2021
OPHN11Apr 4, 2018
OPN1LW1Sep 2, 2021
OPN1MW1Sep 2, 2021
OPTN3Sep 2, 2021
ORC61Sep 2, 2021
OSGEP1Sep 2, 2021
OTOA1Sep 2, 2021
OTOF2Sep 2, 2021
OTOG14Sep 2, 2021
OTOGL9Sep 2, 2021
OXTR5Oct 4, 2021
P3H11Sep 2, 2021
P3H21Sep 2, 2021
PACS11Sep 2, 2021
PADI32Oct 4, 2021
PAFAH1B11Sep 2, 2021
PAH20Dec 16, 2021
PAK32Sep 2, 2021
PALB220Oct 15, 2021
PALLD2Dec 16, 2021
PANK25Oct 4, 2021
PARK72Sep 2, 2021
PAX23Sep 2, 2021
PAX32Sep 2, 2021
PAX51Oct 4, 2021
PAX62Dec 16, 2021
PAX92Apr 4, 2018
PCARE1Oct 4, 2021
PCBD11Dec 16, 2021
PCCA6Sep 2, 2021
PCCB1Sep 2, 2021
PCDH11X1Sep 2, 2021
PCDH154Sep 2, 2021
PCDH194Apr 4, 2018
PCK11Apr 4, 2018
PCLO7Oct 4, 2021
PCNT25Oct 15, 2021
PCSK11Sep 2, 2021
PCSK919Oct 4, 2021
PDCD101Dec 16, 2021
PDE6A1Oct 4, 2021
PDE6B1Sep 2, 2021
PDE6C6Sep 2, 2021
PDGFRA2Sep 2, 2021
PDGFRB2Sep 2, 2021
PDHB2Oct 4, 2021
PDHX5Sep 2, 2021
PDK1-AS11Sep 2, 2021
PDSS11Oct 4, 2021
PDYN1Apr 4, 2018
PDYN-AS11Apr 4, 2018
PDZD72Sep 2, 2021
PEPD3Oct 15, 2021
PEX18Sep 2, 2021
PEX102Sep 2, 2021
PEX121Oct 15, 2021
PEX163Oct 4, 2021
PEX63Sep 2, 2021
PEX73Sep 2, 2021
PFKM1Dec 16, 2021
PGBD31Dec 16, 2021
PGM12Sep 2, 2021
PHF81Sep 2, 2021
PHGDH1Apr 4, 2018
PHKA12Sep 2, 2021
PHKA22Oct 4, 2021
PHKA2-AS11Oct 4, 2021
PHKB1Sep 2, 2021
PHOX2B2Oct 15, 2021
PHYH4Sep 2, 2021
PI4KA3Sep 2, 2021
PIEZO12Dec 16, 2021
PIEZO21Oct 4, 2021
PIGG1Sep 2, 2021
PIGL1Sep 2, 2021
PIGN3Apr 4, 2018
PIGO1Oct 4, 2021
PIGV1Sep 2, 2021
PIK3CA1Sep 2, 2021
PIK3CD1Sep 2, 2021
PIK3R11Oct 15, 2021
PIK3R23Sep 2, 2021
PIK3R51Sep 2, 2021
PINK17Sep 2, 2021
PINK1-AS4Sep 2, 2021
PIRC664Sep 2, 2021
PITX21Sep 2, 2021
PJVK1Sep 2, 2021
PKD16Dec 16, 2021
PKD1L12Sep 2, 2021
PKD22Oct 15, 2021
PKD2L2-DT1Sep 2, 2021
PKHD113Dec 16, 2021
PKLR2Sep 2, 2021
PKP236Oct 15, 2021
PLA2G51Sep 2, 2021
PLA2G65Oct 4, 2021
PLAA1Oct 15, 2021
PLCB17Sep 2, 2021
PLCE17Apr 4, 2018
PLCE1-AS12Apr 4, 2018
PLCG28Oct 4, 2021
PLD31Oct 4, 2021
PLEC26Dec 16, 2021
PLEKHM11Sep 2, 2021
PLG6Sep 2, 2021
PLIN11Dec 16, 2021
PLN3Oct 4, 2021
PLOD12Sep 2, 2021
PLOD22Apr 4, 2018
PLP11Sep 2, 2021
PLXND11Sep 2, 2021
PMM210Dec 16, 2021
PMP221Oct 4, 2021
PMS230Dec 16, 2021
PNKD3Dec 16, 2021
PNKP6Sep 2, 2021
PNP4Apr 4, 2018
PNPLA13Sep 2, 2021
PNPLA22Sep 2, 2021
PNPLA69Sep 2, 2021
POFUT11Oct 4, 2021
POLD16Sep 2, 2021
POLE8Sep 2, 2021
POLG27Dec 16, 2021
POLG21Sep 2, 2021
POLGARF27Dec 16, 2021
POLH2Sep 2, 2021
POLR1C3Oct 4, 2021
POLR2F1Sep 2, 2021
POMC1Sep 2, 2021
POMGNT14Sep 2, 2021
POMT15Oct 4, 2021
POMT23Sep 2, 2021
POR6Sep 2, 2021
POT13Oct 4, 2021
POTEI1Sep 2, 2021
POU1F11Oct 4, 2021
POU3F32Sep 29, 2022
POU3F41Sep 2, 2021
PPARG1Dec 16, 2021
PPL1Sep 2, 2021
PPM1D1Sep 2, 2021
PPOX2Oct 4, 2021
PPP1CB1Sep 2, 2021
PPP2R5D1Sep 2, 2021
PPT14Sep 2, 2021
PRDM1636Dec 16, 2021
PRF13Sep 2, 2021
PRG44Sep 2, 2021
PRICKLE12Sep 2, 2021
PRICKLE21Apr 4, 2018
PRKAG218Oct 15, 2021
PRKCG5Apr 4, 2018
PRKCSH1Sep 2, 2021
PRKG11Oct 4, 2021
PRKN3Sep 2, 2021
PRKRA3Sep 2, 2021
PRNP1Sep 2, 2021
PROC3Sep 2, 2021
PROK21Oct 4, 2021
PROKR21Sep 2, 2021
PROM13Sep 2, 2021
PROP12Oct 4, 2021
PROS11Sep 2, 2021
PRPF181Sep 2, 2021
PRPF311Sep 2, 2021
PRPH25Sep 2, 2021
PRPS13Oct 4, 2021
PRRT23Sep 2, 2021
PRSS15Sep 2, 2021
PRSS123Sep 2, 2021
PRX7Oct 4, 2021
PSAT11Sep 2, 2021
PSEN13Dec 16, 2021
PSEN210Sep 2, 2021
PSENEN1Apr 4, 2018
PSMB82Sep 2, 2021
PSORS1C12Sep 2, 2021
PSPH7Sep 2, 2021
PTCH111Oct 4, 2021
PTCH21Sep 2, 2021
PTCHD11Sep 2, 2021
PTEN10Oct 4, 2021
PTH1R2Oct 4, 2021
PTPN118Dec 16, 2021
PTPN223Oct 4, 2021
PTPRO2Sep 2, 2021
PTPRQ8Sep 2, 2021
PTS2Sep 2, 2021
PYCR11Sep 2, 2021
PYGM1Sep 2, 2021
PYY2Apr 4, 2018
QDPR5Oct 4, 2021
RAB27A1Dec 16, 2021
RAB33A1Sep 2, 2021
RAB39B1Sep 2, 2021
RAB3GAP12Apr 4, 2018
RAB40AL3Sep 2, 2021
RAB9B1Sep 2, 2021
RAD211Sep 2, 2021
RAD501Apr 4, 2018
RAD51C3Dec 16, 2021
RAD51D4Sep 2, 2021
RAD51L3-RFFL4Sep 2, 2021
RAF13Oct 15, 2021
RAG14Oct 4, 2021
RAG23Sep 2, 2021
RAI118Oct 4, 2021
RANBP210Sep 2, 2021
RANGRF1Oct 4, 2021
RAPSN4Sep 2, 2021
RARS22Oct 4, 2021
RBM2045Oct 15, 2021
RBM8A2Sep 2, 2021
RECQL49Sep 2, 2021
REEP12Oct 15, 2021
RELN16Dec 16, 2021
RET13Oct 15, 2021
RETREG12Oct 4, 2021
RETREG1-AS11Oct 4, 2021
RFX61Dec 16, 2021
RFXAP1Apr 4, 2018
RGN1Sep 2, 2021
RGR2Sep 2, 2021
RHBDF23Sep 2, 2021
RIGI1Sep 2, 2021
RIT15Oct 4, 2021
RMND11Sep 2, 2021
RNASEH2A2Oct 4, 2021
RNASEH2B6Oct 4, 2021
RNASEH2C3Apr 4, 2018
RNASET22Apr 4, 2018
RNF1681Sep 2, 2021
RNF171Sep 2, 2021
RNF311Dec 16, 2021
ROBO13Sep 2, 2021
ROBO22Apr 4, 2018
ROGDI1Apr 4, 2018
ROM11Sep 2, 2021
ROR22Dec 16, 2021
RP14Sep 2, 2021
RP1L117Sep 2, 2021
RPGRIP14Sep 2, 2021
RPL36A-HNRNPH28Oct 4, 2021
RS12Apr 4, 2018
RSPH91Oct 4, 2021
RSU11Dec 16, 2021
RTTN1Sep 2, 2021
RUBCN3Sep 2, 2021
RYR110Sep 2, 2021
RYR2114Oct 15, 2021
SACS12Oct 4, 2021
SALL17Sep 2, 2021
SALL46Sep 2, 2021
SAMD92Oct 15, 2021
SAMD9L2Dec 16, 2021
SAR1B1Oct 4, 2021
SATB22Dec 16, 2021
SBDS2Sep 2, 2021
SBF11Oct 4, 2021
SBF22Apr 4, 2018
SBF2-AS11Apr 4, 2018
SCARB11Dec 16, 2021
SCARB21Apr 4, 2018
SCARF28Sep 2, 2021
SCN10A1Dec 16, 2021
SCN1A17Oct 4, 2021
SCN1A-AS111Oct 4, 2021
SCN2A10Oct 15, 2021
SCN2B1Oct 4, 2021
SCN4A2Sep 2, 2021
SCN4B1Sep 2, 2021
SCN5A67Dec 16, 2021
SCN8A9Oct 4, 2021
SCN9A14Oct 4, 2021
SCNN1A2Sep 2, 2021
SCNN1B1Sep 2, 2021
SCNN1G3Sep 2, 2021
SCO27Oct 15, 2021
SDCCAG82Apr 4, 2018
SDHA22Dec 16, 2021
SDHB6Dec 16, 2021
SDHC1Sep 2, 2021
SDHD3Sep 2, 2021
SEC23B2Sep 2, 2021
SEC633Sep 2, 2021
SELENON4Sep 2, 2021
SEMA3A4Sep 2, 2021
SEMA3E1Sep 2, 2021
SEMA4A1Sep 2, 2021
SEPTIN93Apr 4, 2018
SERAC12Sep 2, 2021
SERPINA17Oct 15, 2021
SERPINA71Oct 4, 2021
SERPINE11Sep 2, 2021
SERPINF11Apr 4, 2018
SERPING12Apr 4, 2018
SERPINH15Sep 2, 2021
SETBP13Oct 15, 2021
SETD21Sep 2, 2021
SETD51Sep 2, 2021
SETX15Dec 16, 2021
SFTA31Sep 2, 2021
SFTPB1Sep 2, 2021
SGCA1Oct 4, 2021
SGCD9Dec 16, 2021
SGCE4Dec 16, 2021
SGCG2Oct 4, 2021
SGSH10Oct 15, 2021
SH2B31Sep 2, 2021
SH2D1A1Sep 2, 2021
SH2D2A1Oct 15, 2021
SH3BP23Sep 2, 2021
SH3PXD2B1Sep 2, 2021
SH3TC21Sep 2, 2021
SHANK23Oct 15, 2021
SHANK35Oct 4, 2021
SHOX1Sep 2, 2021
SHROOM31Sep 2, 2021
SHROOM3-AS11Sep 2, 2021
SHROOM43Oct 4, 2021
SI8Sep 2, 2021
SIL11Apr 4, 2018
SIX31Dec 16, 2021
SIX51Apr 4, 2018
SKI2Sep 2, 2021
SKIC21Sep 2, 2021
SKIC33Oct 15, 2021
SLA3Oct 15, 2021
SLC11A21Sep 2, 2021
SLC12A11Sep 2, 2021
SLC12A33Sep 2, 2021
SLC12A65Apr 4, 2018
SLC16A21Sep 2, 2021
SLC17A52Sep 2, 2021
SLC19A14Apr 4, 2018
SLC19A21Sep 2, 2021
SLC19A34Oct 15, 2021
SLC1A21Oct 25, 2022
SLC20A21Apr 4, 2018
SLC22A54Sep 2, 2021
SLC25A131Sep 2, 2021
SLC25A191Sep 2, 2021
SLC25A221Sep 2, 2021
SLC25A351Oct 4, 2021
SLC26A15Oct 15, 2021
SLC26A111Apr 4, 2018
SLC26A22Sep 2, 2021
SLC26A31Sep 2, 2021
SLC26A42Sep 2, 2021
SLC26A51Sep 2, 2021
SLC26A5-AS17Dec 16, 2021
SLC29A31Sep 2, 2021
SLC2A16Sep 2, 2021
SLC30A101Sep 2, 2021
SLC34A18Sep 2, 2021
SLC34A21Sep 2, 2021
SLC34A33Sep 2, 2021
SLC35A11Sep 2, 2021
SLC37A43Oct 15, 2021
SLC39A131Sep 2, 2021
SLC39A43Sep 2, 2021
SLC3A11Sep 2, 2021
SLC40A11Sep 2, 2021
SLC4A11Sep 2, 2021
SLC52A21Oct 4, 2021
SLC52A34Oct 4, 2021
SLC5A51Apr 4, 2018
SLC6A1910Oct 4, 2021
SLC6A35Sep 2, 2021
SLC6A55Oct 4, 2021
SLC6A85Sep 2, 2021
SLC7A74Sep 2, 2021
SLC7A95Sep 2, 2021
SLC9A11Sep 2, 2021
SLC9A3R1-AS11Apr 4, 2018
SLC9A61Apr 4, 2018
SLCO1B14Apr 4, 2018
SLCO2A11Sep 2, 2021
SMAD31Sep 2, 2021
SMAD43Sep 2, 2021
SMAD61Sep 2, 2021
SMARCA11Dec 16, 2021
SMARCA25Sep 2, 2021
SMARCA46Dec 16, 2021
SMARCAL11Sep 2, 2021
SMARCB11Sep 2, 2021
SMC1A3Oct 15, 2021
SMC32Sep 2, 2021
SMCHD11Oct 4, 2021
SMPD16Oct 15, 2021
SMS1Apr 4, 2018
SNAP292Apr 4, 2018
SNCB1Sep 2, 2021
SNHG142Sep 2, 2021
SNHG221Apr 4, 2018
SNRNP2001Sep 2, 2021
SOBP1Sep 2, 2021
SON4Dec 16, 2021
SORL11Sep 2, 2021
SOS14Oct 4, 2021
SOX101Sep 2, 2021
SOX112Sep 2, 2021
SOX34Oct 15, 2021
SOX52Oct 15, 2021
SP72Apr 4, 2018
SPART1Sep 2, 2021
SPAST3Dec 16, 2021
SPATA222Oct 15, 2021
SPATA71Sep 2, 2021
SPECC1L2Oct 15, 2021
SPECC1L-ADORA2A2Oct 15, 2021
SPG1113Dec 16, 2021
SPG79Oct 15, 2021
SPINK13Sep 2, 2021
SPINK56Sep 2, 2021
SPRED14Apr 4, 2018
SPTA120Sep 2, 2021
SPTAN19Dec 16, 2021
SPTB1Sep 2, 2021
SPTBN26Sep 2, 2021
SPTLC11Apr 4, 2018
SPTLC21Apr 4, 2018
SQSTM12Apr 4, 2018
SRCAP6Sep 2, 2021
SRD5A31Sep 2, 2021
SRD5A3-AS11Sep 2, 2021
SRP721Oct 15, 2021
SRPX21Apr 4, 2018
SSUH21Sep 2, 2021
ST143Sep 2, 2021
ST3GAL32Sep 2, 2021
ST3GAL41Oct 15, 2021
STAT12Oct 4, 2021
STIL3Apr 4, 2018
STK1110Dec 16, 2021
STON1-GTF2A1L3Oct 15, 2021
STRA61Sep 2, 2021
STRADA1Apr 4, 2018
STRC5Sep 2, 2021
STUB11Dec 16, 2021
STXBP15Apr 4, 2018
STXBP22Sep 2, 2021
SUCLA22Sep 2, 2021
SUCLG12Sep 2, 2021
SUFU5Sep 2, 2021
SULF11Sep 2, 2021
SUMF13Sep 2, 2021
SUOX1Apr 4, 2018
SURF14Sep 2, 2021
SYCE21Apr 4, 2018
SYNE147Dec 16, 2021
SYNE212Sep 2, 2021
SYNGAP14Oct 15, 2021
SYNGAP1-AS13Oct 15, 2021
SYNJ11Sep 2, 2021
SYT142Apr 4, 2018
TAB21Sep 2, 2021
TACO11Oct 4, 2021
TAF15Sep 2, 2021
TAF106Oct 15, 2021
TAFAZZIN10Oct 4, 2021
TAP12Oct 4, 2021
TARID2Sep 2, 2021
TBC1D246Sep 2, 2021
TBCE1Sep 2, 2021
TBCEL-TECTA5Sep 2, 2021
TBCK2Sep 2, 2021
TBP5Oct 4, 2021
TBX12Sep 2, 2021
TBX191Oct 4, 2021
TBX203Sep 2, 2021
TBX41Oct 4, 2021
TBX52Sep 2, 2021
TBX61Sep 2, 2021
TCAP7Oct 4, 2021
TCF32Sep 2, 2021
TCF41Sep 2, 2021
TCOF12Sep 2, 2021
TCTN25Sep 2, 2021
TECTA5Sep 2, 2021
TEK4Oct 4, 2021
TELO21Sep 2, 2021
TERT10Dec 16, 2021
TF2Sep 2, 2021
TFAP2B1Sep 2, 2021
TFE31Oct 4, 2021
TFG1Oct 4, 2021
TFR22Sep 2, 2021
TG12Oct 15, 2021
TGFB11Sep 2, 2021
TGFB21Apr 4, 2018
TGFBR23Sep 2, 2021
TGIF11Sep 2, 2021
TGM12Sep 2, 2021
TGM51Oct 15, 2021
TGM67Sep 2, 2021
TH7Oct 15, 2021
THAP11Sep 2, 2021
THOC61Sep 2, 2021
THPO1Sep 2, 2021
THRB3Oct 4, 2021
TICAM11Sep 2, 2021
TIMM8A1Oct 4, 2021
TINF21Sep 2, 2021
TK21Dec 16, 2021
TLK21Oct 15, 2021
TLR31Apr 4, 2018
TLR41Oct 4, 2021
TMC63Sep 2, 2021
TMC86Sep 2, 2021
TMEM1271Apr 4, 2018
TMEM2162Sep 2, 2021
TMEM2311Apr 4, 2018
TMEM2372Sep 2, 2021
TMEM2401Sep 2, 2021
TMEM2601Sep 9, 2021
TMEM4317Oct 4, 2021
TMEM673Oct 4, 2021
TMLHE2Dec 16, 2021
TMPPE2Sep 2, 2021
TMPRSS32Sep 2, 2021
TMPRSS63Sep 2, 2021
TMX2-CTNND11Sep 2, 2021
TNFRSF13B3Oct 15, 2021
TNFRSF1A4Oct 15, 2021
TNNC16Oct 4, 2021
TNNI21Apr 4, 2018
TNNI318Sep 2, 2021
TNNI3K5Dec 16, 2021
TNNT13Sep 2, 2021
TNNT220Oct 4, 2021
TNNT31Apr 4, 2018
TNXB3Sep 2, 2021
TOP2B1Oct 15, 2021
TOR1A4Sep 2, 2021
TP536Sep 2, 2021
TP634Dec 16, 2021
TPM113Dec 16, 2021
TPM21Sep 2, 2021
TPO9Oct 4, 2021
TPP15Sep 2, 2021
TRAF3IP21Sep 2, 2021
TRAF3IP2-AS11Sep 2, 2021
TRAF61Sep 2, 2021
TRAPPC96Sep 2, 2021
TRB5Sep 2, 2021
TRDN6Oct 4, 2021
TREM21Apr 4, 2018
TREX15Dec 16, 2021
TRH3Oct 4, 2021
TRIO1Oct 4, 2021
TRIOBP5Sep 2, 2021
TRNT11Sep 2, 2021
TRPM42Oct 4, 2021
TRPM61Sep 2, 2021
TRPS12Sep 2, 2021
TRPV43Oct 15, 2021
TSC110Dec 16, 2021
TSC220Oct 4, 2021
TSEN152Oct 4, 2021
TSEN341Oct 4, 2021
TSEN5410Sep 2, 2021
TSHB1Apr 4, 2018
TSHR4Oct 4, 2021
TSHZ14Sep 2, 2021
TSPAN13Sep 2, 2021
TSPAN121Sep 2, 2021
TSPEAR1Oct 4, 2021
TTC141Apr 4, 2018
TTC191Apr 4, 2018
TTC21B4Sep 2, 2021
TTC7A2Sep 2, 2021
TTN756Dec 16, 2021
TTN-AS1392Dec 16, 2021
TTPA3Sep 2, 2021
TTR8Oct 4, 2021
TUBA1A2Sep 2, 2021
TUBB12Oct 15, 2021
TUBB2B1Oct 4, 2021
TUBGCP65Oct 4, 2021
TULP12Sep 2, 2021
TWIST12Dec 16, 2021
TXNRD216Oct 15, 2021
TYK22Sep 2, 2021
TYMP6Oct 15, 2021
UBA13Oct 4, 2021
UBE3A2Sep 2, 2021
UGT1A2Oct 15, 2021
UGT1A12Oct 15, 2021
UGT1A102Oct 15, 2021
UGT1A32Oct 15, 2021
UGT1A42Oct 15, 2021
UGT1A52Oct 15, 2021
UGT1A62Oct 15, 2021
UGT1A72Oct 15, 2021
UGT1A82Oct 15, 2021
UGT1A92Oct 15, 2021
UMOD1Sep 2, 2021
UNC13D10Oct 4, 2021
UNG1Sep 2, 2021
UPB11Sep 2, 2021
UPK3A3Apr 4, 2018
USB11Sep 2, 2021
USF31Sep 2, 2021
USH1C4Sep 2, 2021
USH2A7Sep 2, 2021
VANGL11Apr 4, 2018
VAV11Sep 2, 2021
VCAN4Sep 2, 2021
VCAN-AS11Sep 2, 2021
VCL31Oct 15, 2021
VCP3Sep 2, 2021
VDR2Sep 2, 2021
VHL2Sep 2, 2021
VPS13A25Oct 15, 2021
VPS13B8Oct 15, 2021
VPS13D2Oct 4, 2021
VPS33B4Oct 15, 2021
VPS351Sep 2, 2021
VRK12Apr 4, 2018
VSX21Sep 2, 2021
VWA3B1Oct 4, 2021
VWF13Sep 2, 2021
WAC1Dec 16, 2021
WARS21Oct 4, 2021
WASHC51Sep 2, 2021
WDPCP2Sep 2, 2021
WDR195Dec 16, 2021
WDR352Sep 2, 2021
WDR451Apr 4, 2018
WDR627Apr 4, 2018
WDR812Apr 4, 2018
WFS115Dec 16, 2021
WIPF11Dec 16, 2021
WNK19Oct 4, 2021
WNT10A5Dec 16, 2021
WNT10B1Sep 2, 2021
WRAP532Sep 2, 2021
WRN7Oct 15, 2021
WT15Oct 15, 2021
WWOX2Apr 4, 2018
XDH3Oct 15, 2021
XG1Dec 16, 2021
XIAP2Sep 2, 2021
XPC2Sep 2, 2021
XRCC41Dec 16, 2021
XYLT11Sep 2, 2021
ZBTB201Sep 2, 2021
ZDHHC151Sep 2, 2021
ZDHHC243Sep 2, 2021
ZDHHC91Sep 2, 2021
ZEB21Apr 4, 2018
ZFPM21Sep 2, 2021
ZFPM2-AS11Sep 2, 2021
ZFYVE264Sep 2, 2021
ZFYVE271Oct 4, 2021
ZIC21Sep 2, 2021
ZIC33Oct 4, 2021
ZMPSTE241Oct 4, 2021
ZNF2921Sep 2, 2021
ZNF412Sep 2, 2021
ZNF4544Sep 2, 2021
ZNF46920Sep 2, 2021
ZNF5922Apr 4, 2018
ZNF6741Sep 2, 2021
ZNF812Sep 2, 2021

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 24Apr 4, 2018
46,XY sex reversal 66Apr 4, 2018
ALDH18A1-related de Barsy syndrome2Apr 4, 2018
ALG6-congenital disorder of glycosylation 1C2Apr 4, 2018
ALG8 congenital disorder of glycosylation2Apr 4, 2018
Aarskog syndrome2Apr 4, 2018
Abetalipoproteinaemia6Apr 4, 2018
Acne inversa, familial, 21Apr 4, 2018
Action myoclonus-renal failure syndrome1Apr 4, 2018
Acute intermittent porphyria3Apr 4, 2018
Adams-Oliver syndrome 212Apr 4, 2018
Adrenoleukodystrophy1Apr 4, 2018
Agenesis of the corpus callosum with peripheral neuropathy5Apr 4, 2018
Aicardi-Goutieres syndrome 22Apr 4, 2018
Aicardi-Goutieres syndrome 33Apr 4, 2018
Alpha-1-antitrypsin deficiency2Apr 4, 2018
Alstrom syndrome3Apr 4, 2018
Amelocerebrohypohidrotic syndrome1Apr 4, 2018
Amelogenesis imperfecta, hypocalcification type2Apr 4, 2018
Amyotrophic neuralgia3Apr 4, 2018
Angelman syndrome1Apr 4, 2018
Aortic aneurysm, familial thoracic 43Apr 4, 2018
Aortic aneurysm, familial thoracic 76Apr 4, 2018
Aortic valve disease 111Apr 4, 2018
Apolipoprotein c-III deficiency1Apr 4, 2018
Arginase deficiency1Apr 4, 2018
Arginine:glycine amidinotransferase deficiency3Apr 4, 2018
Arrhythmogenic right ventricular dysplasia 1115Apr 4, 2018
Arrhythmogenic right ventricular dysplasia 922Apr 4, 2018
Aspartylglucosaminuria3Apr 4, 2018
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia2Apr 4, 2018
Ataxia-telangiectasia syndrome8Apr 4, 2018
Atrial fibrillation, familial, 71Apr 4, 2018
Atrial septal defect 42Apr 4, 2018
Autism, susceptibility to, 171Apr 4, 2018
Autosomal dominant auditory neuropathy 11Apr 4, 2018
Autosomal dominant nocturnal frontal lobe epilepsy 12Apr 4, 2018
Autosomal dominant nocturnal frontal lobe epilepsy 31Apr 4, 2018
Autosomal dominant nocturnal frontal lobe epilepsy 41Apr 4, 2018
Autosomal dominant nonsyndromic hearing loss 11Apr 4, 2018
Autosomal dominant nonsyndromic hearing loss 2A2Apr 4, 2018
Autosomal dominant nonsyndromic hearing loss 91Apr 4, 2018
Autosomal dominant slowed nerve conduction velocity5Apr 4, 2018
Autosomal recessive DOPA responsive dystonia3Apr 4, 2018
Autosomal recessive ataxia due to ubiquinone deficiency6Apr 4, 2018
Autosomal recessive congenital ichthyosis 112Apr 4, 2018
Autosomal recessive distal spinal muscular atrophy 18Apr 4, 2018
Autosomal recessive hypophosphatemic bone disease1Apr 4, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2C1Apr 4, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2P1Apr 4, 2018
Autosomal recessive nonsyndromic hearing loss 281Apr 4, 2018
Autosomal recessive nonsyndromic hearing loss 35Apr 4, 2018
Autosomal recessive polycystic kidney disease6Apr 4, 2018
Autosomal recessive spinocerebellar ataxia 105Apr 4, 2018
Autosomal recessive spinocerebellar ataxia 112Apr 4, 2018
Autosomal recessive spinocerebellar ataxia 135Apr 4, 2018
Bamforth-Lazarus syndrome2Apr 4, 2018
Bardet-Biedl syndrome 119Apr 4, 2018
Bietti crystalline corneoretinal dystrophy1Apr 4, 2018
Biotin-responsive basal ganglia disease2Apr 4, 2018
Biotinidase deficiency1Apr 4, 2018
Bloom syndrome1Apr 4, 2018
Branchiootorenal syndrome 21Apr 4, 2018
Breast-ovarian cancer, familial, susceptibility to, 199Apr 4, 2018
Breast-ovarian cancer, familial, susceptibility to, 2136Apr 4, 2018
Brittle cornea syndrome 118Apr 4, 2018
Brody myopathy2Apr 4, 2018
Bruck syndrome 22Apr 4, 2018
Brugada syndrome 42Apr 4, 2018
CBL-related disorder1Apr 4, 2018
CEDNIK syndrome2Apr 4, 2018
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome3Apr 4, 2018
Capillary infantile hemangioma1Apr 4, 2018
Cardiac arrhythmia, ankyrin-B-related7Apr 4, 2018
Cardiofaciocutaneous syndrome 42Apr 4, 2018
Carnitine palmitoyl transferase 1A deficiency1Apr 4, 2018
Catecholaminergic polymorphic ventricular tachycardia 24Apr 4, 2018
Cayman type cerebellar ataxia1Apr 4, 2018
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 22Apr 4, 2018
Cerebral folate transport deficiency1Apr 4, 2018
Charcot-Marie-Tooth disease axonal type 2N2Apr 4, 2018
Charcot-Marie-Tooth disease axonal type 2P4Apr 4, 2018
Charcot-Marie-Tooth disease type 1C1Apr 4, 2018
Charcot-Marie-Tooth disease type 4B11Apr 4, 2018
Charcot-Marie-Tooth disease type 4B22Apr 4, 2018
Charcot-Marie-Tooth disease type 4D1Apr 4, 2018
Charcot-Marie-Tooth disease type 4H2Apr 4, 2018
Charlevoix-Saguenay spastic ataxia5Apr 4, 2018
Cholestanol storage disease2Apr 4, 2018
Chorea-acanthocytosis17Apr 4, 2018
Christianson syndrome1Apr 4, 2018
Chromosome 2q37 deletion syndrome3Apr 4, 2018
Citrullinemia type I1Apr 4, 2018
Classic dopamine transporter deficiency syndrome4Apr 4, 2018
Classic homocystinuria2Apr 4, 2018
Cleft lip/palate-ectodermal dysplasia syndrome1Apr 4, 2018
Coenzyme Q10 deficiency, primary, 13Apr 4, 2018
Cohen syndrome4Apr 4, 2018
Colorectal cancer, hereditary nonpolyposis, type 210Apr 4, 2018
Colorectal cancer, susceptibility to, 104Apr 4, 2018
Congenital cataracts-facial dysmorphism-neuropathy syndrome3Apr 4, 2018
Congenital contractural arachnodactyly4Apr 4, 2018
Congenital hyperammonemia, type I4Apr 4, 2018
Congenital microvillous atrophy4Apr 4, 2018
Congenital muscular dystrophy with intellectual disability and severe epilepsy2Apr 4, 2018
Congenital sensory neuropathy with selective loss of small myelinated fibers1Apr 4, 2018
Congenital total pulmonary venous return anomaly10Apr 4, 2018
Cornelia de Lange syndrome 11Apr 4, 2018
Cranioectodermal dysplasia 11Apr 4, 2018
Creatine transporter deficiency2Apr 4, 2018
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies5Apr 4, 2018
Cutis laxa, autosomal recessive, type 1B1Apr 4, 2018
Cystic leukoencephalopathy without megalencephaly2Apr 4, 2018
Danon disease6Apr 4, 2018
Deafness-intellectual disability, Martin-Probst type syndrome1Apr 4, 2018
Deficiency of alpha-mannosidase3Apr 4, 2018
Deficiency of aromatic-L-amino-acid decarboxylase3Apr 4, 2018
Deficiency of ferroxidase4Apr 4, 2018
Deficiency of guanidinoacetate methyltransferase1Apr 4, 2018
Deficiency of iodide peroxidase8Apr 4, 2018
Deficiency of malonyl-CoA decarboxylase3Apr 4, 2018
Developmental and epileptic encephalopathy, 126Apr 4, 2018
Developmental and epileptic encephalopathy, 24Apr 4, 2018
Developmental and epileptic encephalopathy, 45Apr 4, 2018
Developmental and epileptic encephalopathy, 411Oct 25, 2022
Developmental and epileptic encephalopathy, 51Apr 4, 2018
Developmental and epileptic encephalopathy, 94Apr 4, 2018
Diabetes insipidus, nephrogenic, autosomal1Apr 4, 2018
Dihydropteridine reductase deficiency4Apr 4, 2018
Dihydropyrimidine dehydrogenase deficiency2Apr 4, 2018
Dilated cardiomyopathy 1AA24Apr 4, 2018
Dilated cardiomyopathy 1DD28Apr 4, 2018
Dilated cardiomyopathy 1JJ37Apr 4, 2018
Dilated cardiomyopathy 1KK21Apr 4, 2018
Dilated cardiomyopathy 2B2Apr 4, 2018
Distal arthrogryposis type 2B12Apr 4, 2018
Donnai-Barrow syndrome3Apr 4, 2018
Dyskeratosis congenita, X-linked1Apr 4, 2018
Dystonia 161Apr 4, 2018
Dystonia 241Apr 4, 2018
Early-onset generalized limb-onset dystonia1Apr 4, 2018
Ectodermal dysplasia and immunodeficiency 21Apr 4, 2018
Ectopia lentis et pupillae2Apr 4, 2018
Efavirenz response1Apr 4, 2018
Ehlers-Danlos syndrome progeroid type2Apr 4, 2018
Ehlers-Danlos syndrome, dermatosparaxis type10Apr 4, 2018
Eichsfeld type congenital muscular dystrophy3Apr 4, 2018
Emery-Dreifuss muscular dystrophy 5, autosomal dominant10Apr 4, 2018
Endometrial carcinoma1Apr 4, 2018
Epilepsy, childhood absence, susceptibility to, 67Apr 4, 2018
Epilepsy, idiopathic generalized, susceptibility to, 101Apr 4, 2018
Epilepsy, idiopathic generalized, susceptibility to, 111Apr 4, 2018
Episodic ataxia type 11Apr 4, 2018
Fabry disease3Apr 4, 2018
Familial acute necrotizing encephalopathy4Apr 4, 2018
Familial cold autoinflammatory syndrome 21Apr 4, 2018
Familial dysautonomia3Apr 4, 2018
Familial hemophagocytic lymphohistiocytosis 21Apr 4, 2018
Familial hemophagocytic lymphohistiocytosis 35Apr 4, 2018
Familial hemophagocytic lymphohistiocytosis 51Apr 4, 2018
Familial hypokalemia-hypomagnesemia2Apr 4, 2018
Familial isolated deficiency of vitamin E2Apr 4, 2018
Familial thyroid dyshormonogenesis 11Apr 4, 2018
Fanconi anemia complementation group D23Apr 4, 2018
Fibrous dysplasia of jaw1Apr 4, 2018
Finnish congenital nephrotic syndrome4Apr 4, 2018
Focal segmental glomerulosclerosis 11Apr 4, 2018
Focal segmental glomerulosclerosis 3, susceptibility to1Apr 4, 2018
Fraser syndrome 134Apr 4, 2018
Friedreich ataxia 11Apr 4, 2018
Frontotemporal dementia and/or amyotrophic lateral sclerosis 12Apr 4, 2018
Galactosylceramide beta-galactosidase deficiency10Apr 4, 2018
Galloway-Mowat syndrome 12Apr 4, 2018
Geleophysic dysplasia 19Apr 4, 2018
Generalized epilepsy-paroxysmal dyskinesia syndrome1Apr 4, 2018
Glucocorticoid deficiency 41Oct 13, 2015
Glutaric aciduria, type 14Apr 4, 2018
Glycogen storage disease IXa11Apr 4, 2018
Glycogen storage disease type III1Apr 4, 2018
Glycogen storage disease, type II17Apr 4, 2018
Goldberg-Shprintzen syndrome2Apr 4, 2018
Hennekam lymphangiectasia-lymphedema syndrome 11Apr 4, 2018
Hereditary angioedema type 12Apr 4, 2018
Hereditary coproporphyria2Apr 4, 2018
Hereditary pancreatitis2Apr 4, 2018
Hereditary sensory and autonomic neuropathy type 67Apr 4, 2018
Hereditary sensory and autonomic neuropathy with spastic paraplegia5Apr 4, 2018
Hereditary spastic paraplegia 116Apr 4, 2018
Hereditary spastic paraplegia 151Apr 4, 2018
Hereditary spastic paraplegia 351Apr 4, 2018
Hereditary spastic paraplegia 391Apr 4, 2018
Hereditary spastic paraplegia 41Apr 4, 2018
Hereditary spastic paraplegia 471Apr 4, 2018
Hereditary spastic paraplegia 513Apr 4, 2018
Hereditary spastic paraplegia 61Apr 4, 2018
Hereditary spastic paraplegia 73Apr 4, 2018
Hereditary spherocytosis type 16Apr 4, 2018
Hereditary xanthinuria type 11Apr 4, 2018
Heterotaxy, visceral, 4, autosomal3Apr 4, 2018
Holoprosencephaly 91Apr 4, 2018
Holt-Oram syndrome1Apr 4, 2018
Hydatidiform mole, recurrent, 14Apr 4, 2018
Hydrocephalus, nonsyndromic, autosomal recessive 11Apr 4, 2018
Hyper-IgM syndrome type 12Apr 4, 2018
Hyper-IgM syndrome type 22Apr 4, 2018
Hyper-IgM syndrome type 31Apr 4, 2018
Hyperalphalipoproteinemia 12Apr 4, 2018
Hyperammonemia, type III2Apr 4, 2018
Hypercalcemia, infantile, 11Apr 4, 2018
Hypercholesterolemia, autosomal dominant, 314Apr 4, 2018
Hypercholesterolemia, familial, 124Apr 4, 2018
Hypercholesterolemia, familial, 41Apr 4, 2018
Hyperekplexia 11Apr 4, 2018
Hyperekplexia 32Apr 4, 2018
Hypertrophic cardiomyopathy 13Apr 4, 2018
Hypertrophic cardiomyopathy 106Apr 4, 2018
Hypertrophic cardiomyopathy 165Apr 4, 2018
Hypertrophic cardiomyopathy 1712Apr 4, 2018
Hypertrophic cardiomyopathy 198Apr 4, 2018
Hypertrophic cardiomyopathy 452Apr 4, 2018
Hypertrophic cardiomyopathy 82Apr 4, 2018
Hypophosphatemic nephrolithiasis/osteoporosis 21Apr 4, 2018
Idiopathic basal ganglia calcification 11Apr 4, 2018
Immunodeficiency 1041Apr 4, 2018
Immunodeficiency 182Apr 4, 2018
Immunodeficiency 27A2Apr 4, 2018
Immunodeficiency 511Apr 4, 2018
Immunodeficiency 83, susceptibility to viral infections1Apr 4, 2018
Immunodeficiency-centromeric instability-facial anomalies syndrome 11Apr 4, 2018
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly5Apr 4, 2018
Infantile nephronophthisis2Apr 4, 2018
Infantile-onset X-linked spinal muscular atrophy1Apr 4, 2018
Inflammatory bowel disease 281Apr 4, 2018
Intellectual disability, X-linked 12Apr 4, 2018
Intellectual disability, X-linked 461Apr 4, 2018
Intellectual disability, X-linked 881Apr 4, 2018
Intellectual disability, X-linked 931Apr 4, 2018
Intellectual disability, autosomal dominant 142Apr 4, 2018
Intellectual disability, autosomal dominant 52Apr 4, 2018
Intellectual disability, autosomal dominant 64Apr 4, 2018
Intellectual disability, autosomal recessive 181Apr 4, 2018
Intellectual disability, autosomal recessive 31Apr 4, 2018
Iodotyrosine deiodination defect1Apr 4, 2018
Isolated lutropin deficiency4Apr 4, 2018
Isolated thyroid-stimulating hormone deficiency1Apr 4, 2018
Isovaleryl-CoA dehydrogenase deficiency1Apr 4, 2018
Joubert syndrome 174Apr 4, 2018
Joubert syndrome 201Apr 4, 2018
Joubert syndrome 33Apr 4, 2018
Joubert syndrome 81Apr 4, 2018
Kabuki syndrome 11Apr 4, 2018
Kabuki syndrome 21Apr 4, 2018
Kartagener syndrome1Apr 4, 2018
Knobloch syndrome6Apr 4, 2018
Kufor-Rakeb syndrome10Apr 4, 2018
Lafora disease3Apr 4, 2018
Landau-Kleffner syndrome3Apr 4, 2018
Left ventricular noncompaction 18Apr 4, 2018
Left ventricular noncompaction 74Apr 4, 2018
Legius syndrome4Apr 4, 2018
Leukocyte adhesion deficiency 31Apr 4, 2018
Li-Fraumeni syndrome 14Apr 4, 2018
Loeys-Dietz syndrome 41Apr 4, 2018
Long QT syndrome 1111Apr 4, 2018
Lynch syndrome 19Apr 4, 2018
Lynch syndrome 414Apr 4, 2018
Lynch syndrome 518Apr 4, 2018
Lysosomal acid lipase deficiency1Apr 4, 2018
MHC class II deficiency1Apr 4, 2018
MPI-congenital disorder of glycosylation4Apr 4, 2018
Malignant tumor of esophagus2Apr 4, 2018
Mandibulofacial dysostosis-microcephaly syndrome3Apr 4, 2018
Maple syrup urine disease3Apr 4, 2018
Marinesco-Sjögren syndrome1Apr 4, 2018
Meckel syndrome, type 101Apr 4, 2018
Meckel syndrome, type 84Apr 4, 2018
Meckel syndrome, type 91Apr 4, 2018
Medulloblastoma1Apr 4, 2018
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 12Apr 4, 2018
Meier-Gorlin syndrome 42Apr 4, 2018
Merosin deficient congenital muscular dystrophy12Apr 4, 2018
Methylmalonic acidemia with homocystinuria, type cblX1Apr 4, 2018
Methylmalonic aciduria and homocystinuria type cblD1Apr 4, 2018
Methylmalonic aciduria and homocystinuria type cblF1Apr 4, 2018
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency5Apr 4, 2018
Methylmalonic aciduria, cblA type1Apr 4, 2018
Methylmalonic aciduria, cblB type3Apr 4, 2018
Microcephalic osteodysplastic primordial dwarfism type II20Apr 4, 2018
Microcephaly 1, primary, autosomal recessive9Apr 4, 2018
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations7Apr 4, 2018
Microcephaly 3, primary, autosomal recessive3Apr 4, 2018
Microcephaly 5, primary, autosomal recessive15Apr 4, 2018
Microcephaly 7, primary, autosomal recessive3Apr 4, 2018
Microcephaly 8, primary, autosomal recessive1Apr 4, 2018
Microcephaly and chorioretinopathy 14Apr 4, 2018
Microcephaly, seizures, and developmental delay4Apr 4, 2018
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1Apr 4, 2018
Mitochondrial complex I deficiency1Apr 4, 2018
Mitochondrial complex III deficiency nuclear type 21Apr 4, 2018
Mowat-Wilson syndrome1Apr 4, 2018
Mucopolysaccharidosis, MPS-II1Apr 4, 2018
Mucopolysaccharidosis, MPS-III-A8Apr 4, 2018
Mucopolysaccharidosis, MPS-III-B6Apr 4, 2018
Mucopolysaccharidosis, MPS-III-C1Apr 4, 2018
Mucopolysaccharidosis, MPS-III-D2Apr 4, 2018
Mucopolysaccharidosis, MPS-IV-A3Apr 4, 2018
Multiple congenital anomalies-hypotonia-seizures syndrome 13Apr 4, 2018
Multiple cutaneous and mucosal venous malformations3Apr 4, 2018
Multiple endocrine neoplasia type 42Apr 4, 2018
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 72Apr 4, 2018
Myoclonic dystonia 111Apr 4, 2018
Myopathy, proximal, and ophthalmoplegia4Apr 4, 2018
Nemaline myopathy 21Apr 4, 2018
Nemaline myopathy 51Apr 4, 2018
Nephrotic syndrome, type 21Apr 4, 2018
Nephrotic syndrome, type 37Apr 4, 2018
Netherton syndrome2Apr 4, 2018
Neuroblastoma, susceptibility to, 311Apr 4, 2018
Neurodegeneration with brain iron accumulation 42Apr 4, 2018
Neurodegeneration with brain iron accumulation 51Apr 4, 2018
Neuronal ceroid lipofuscinosis 13Apr 4, 2018
Neuronal ceroid lipofuscinosis 102Apr 4, 2018
Neuronal ceroid lipofuscinosis 23Apr 4, 2018
Neuronal ceroid lipofuscinosis 53Apr 4, 2018
Neuronopathy, distal hereditary motor, type 2C2Apr 4, 2018
Neuropathy, hereditary sensory and autonomic, type 1A1Apr 4, 2018
Neuropathy, hereditary sensory and autonomic, type 1C1Apr 4, 2018
Neuropathy, hereditary sensory and autonomic, type 2B1Apr 4, 2018
Niemann-Pick disease, type C119Apr 4, 2018
Niemann-Pick disease, type C21Apr 4, 2018
Nijmegen breakage syndrome-like disorder1Apr 4, 2018
Non-ketotic hyperglycinemia7Apr 4, 2018
Norman-Roberts syndrome13Apr 4, 2018
Obesity2Apr 4, 2018
Obesity due to leptin receptor gene deficiency3Apr 4, 2018
Occipital pachygyria and polymicrogyria15Apr 4, 2018
Oculofaciocardiodental syndrome3Apr 4, 2018
Ogden syndrome1Apr 4, 2018
Osteogenesis imperfecta type 122Apr 4, 2018
Osteogenesis imperfecta type 51Apr 4, 2018
Osteogenesis imperfecta type 61Apr 4, 2018
Osteogenesis imperfecta type 74Apr 4, 2018
PHARC syndrome1Apr 4, 2018
PHGDH deficiency1Apr 4, 2018
PMM2-congenital disorder of glycosylation7Apr 4, 2018
Pachyonychia congenita 21Apr 4, 2018
Paget disease of bone 2, early-onset2Apr 4, 2018
Parkinson disease 11, autosomal dominant, susceptibility to5Apr 4, 2018
Parkinson disease 18, autosomal dominant, susceptibility to3Apr 4, 2018
Parkinsonian-pyramidal syndrome6Apr 4, 2018
Paroxysmal nonkinesigenic dyskinesia 11Apr 4, 2018
Periventricular heterotopia with microcephaly, autosomal recessive1Apr 4, 2018
Persistent Mullerian duct syndrome2Apr 4, 2018
Phenylketonuria7Apr 4, 2018
Pheochromocytoma1Apr 4, 2018
Phosphoenolpyruvate carboxykinase deficiency, cytosolic1Apr 4, 2018
Phytanic acid storage disease3Apr 4, 2018
Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome1Apr 4, 2018
Pituitary hormone deficiency, combined, 21Apr 4, 2018
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 11Apr 4, 2018
Polyhydramnios, megalencephaly, and symptomatic epilepsy1Apr 4, 2018
Pontocerebellar hypoplasia type 1A2Apr 4, 2018
Pontocerebellar hypoplasia type 1B1Apr 4, 2018
Porencephaly-microcephaly-bilateral congenital cataract syndrome2Apr 4, 2018
Porphobilinogen synthase deficiency1Apr 4, 2018
Posterior column ataxia-retinitis pigmentosa syndrome4Apr 4, 2018
Primary ciliary dyskinesia 105Apr 4, 2018
Primary ciliary dyskinesia 132Apr 4, 2018
Primary ciliary dyskinesia 142Apr 4, 2018
Primary ciliary dyskinesia 159Apr 4, 2018
Primary ciliary dyskinesia 191Apr 4, 2018
Primary ciliary dyskinesia 25Apr 4, 2018
Primary ciliary dyskinesia 94Apr 4, 2018
Progressive myoclonic epilepsy type 51Apr 4, 2018
Progressive myoclonic epilepsy type 62Apr 4, 2018
Prolidase deficiency1Apr 4, 2018
Propionic acidemia2Apr 4, 2018
Proteasome-associated autoinflammatory syndrome 11Apr 4, 2018
Protoporphyria, erythropoietic, 12Apr 4, 2018
Purine-nucleoside phosphorylase deficiency4Apr 4, 2018
Pyridoxine-dependent epilepsy1Apr 4, 2018
Pyruvate dehydrogenase E2 deficiency2Apr 4, 2018
Pyruvate dehydrogenase E3 deficiency2Apr 4, 2018
Renal coloboma syndrome2Apr 4, 2018
Renal hypodysplasia/aplasia 13Apr 4, 2018
Retinitis pigmentosa 257Apr 4, 2018
Retinitis pigmentosa 262Apr 4, 2018
Retinitis pigmentosa 281Apr 4, 2018
Retinitis pigmentosa 451Apr 4, 2018
Rett syndrome, congenital variant2Apr 4, 2018
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked1Apr 4, 2018
Rotor syndrome4Apr 4, 2018
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES2Apr 4, 2018
Saldino-Mainzer syndrome6Apr 4, 2018
Sandhoff disease1Apr 4, 2018
Seizures, benign familial neonatal, 21Apr 4, 2018
Senior-Loken syndrome 72Apr 4, 2018
Severe X-linked myotubular myopathy1Apr 4, 2018
Short stature-pituitary and cerebellar defects-small sella turcica syndrome1Apr 4, 2018
Short-rib thoracic dysplasia 6 with or without polydactyly1Apr 4, 2018
Shwachman-Diamond syndrome 11Apr 4, 2018
Sinoatrial node dysfunction and deafness3Apr 4, 2018
Sjögren-Larsson syndrome1Apr 4, 2018
Smith-Lemli-Opitz syndrome3Apr 4, 2018
Smith-Magenis syndrome1Apr 4, 2018
Snijders blok-fisher syndrome2Sep 29, 2022
Spastic ataxia 42Apr 4, 2018
Spinocerebellar ataxia type 133Apr 4, 2018
Spinocerebellar ataxia type 145Apr 4, 2018
Spinocerebellar ataxia type 171Apr 4, 2018
Spinocerebellar ataxia type 231Apr 4, 2018
Spinocerebellar ataxia type 355Apr 4, 2018
Spinocerebellar ataxia type 53Apr 4, 2018
Spondyloepiphyseal dysplasia with congenital joint dislocations1Apr 4, 2018
Steinert myotonic dystrophy syndrome1Apr 4, 2018
Structural heart defects and renal anomalies syndrome1Sep 9, 2021
Succinate-semialdehyde dehydrogenase deficiency1Apr 4, 2018
Sulfite oxidase deficiency1Apr 4, 2018
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A3Apr 4, 2018
Syndromic X-linked intellectual disability 941Apr 4, 2018
Syndromic X-linked intellectual disability Snyder type1Apr 4, 2018
Tay-Sachs disease3Apr 4, 2018
Telangiectasia, hereditary hemorrhagic, type 13Apr 4, 2018
Telangiectasia, hereditary hemorrhagic, type 22Apr 4, 2018
Thyroglobulin synthesis defect5Apr 4, 2018
Thyroid dyshormonogenesis 65Apr 4, 2018
Tooth agenesis, selective, 32Apr 4, 2018
Townes-Brocks syndrome 13Apr 4, 2018
Tyrosinemia type I3Apr 4, 2018
Usher syndrome type 3B1Apr 4, 2018
Van den Ende-Gupta syndrome2Apr 4, 2018
Vesicoureteral reflux 22Apr 4, 2018
Wagner syndrome2Apr 4, 2018
Warburg micro syndrome 12Apr 4, 2018
Weill-Marchesani 4 syndrome, recessive10Apr 4, 2018
Weill-Marchesani syndrome 11Apr 4, 2018
Wilson disease14Apr 4, 2018
Wolcott-Rallison dysplasia4Apr 4, 2018
Woodhouse-Sakati syndrome4Apr 4, 2018
X-linked Emery-Dreifuss muscular dystrophy3Apr 4, 2018
X-linked central congenital hypothyroidism with late-onset testicular enlargement3Apr 4, 2018
X-linked chondrodysplasia punctata 11Apr 4, 2018
X-linked intellectual disability Cabezas type1Apr 4, 2018
X-linked intellectual disability, Stocco dos Santos type1Apr 4, 2018
X-linked intellectual disability-cerebellar hypoplasia syndrome1Apr 4, 2018
X-linked lymphoproliferative disease due to XIAP deficiency1Apr 4, 2018
X-linked progressive cerebellar ataxia7Apr 4, 2018
Xeroderma pigmentosum variant type1Apr 4, 2018
Xeroderma pigmentosum, group G1Apr 4, 2018
not provided4211Dec 16, 2021
not specified2483Dec 16, 2021