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Women's Health and Genetics/Laboratory Corporation of America (LabCorp), WHG-LC

General information

Women's Health and Genetics/Laboratory Corporation of America, WHG-LC
LabCorp
3400 Computer Drive, Suite 100
Westborough
Massachusetts
United States - 01581
https://www.integratedgenetics.com/
Organization ID: 500026

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 47761

Gene

GeneSubmissionsLast Updated
A2ML1248Feb 19, 2024
A2ML1-AS132Nov 14, 2023
AAAS11Dec 26, 2023
AARS17Apr 3, 2024
AARS26Feb 19, 2024
AASS3Feb 19, 2024
ABAT2Nov 14, 2023
ABCA1135Feb 19, 2024
ABCA1220Oct 2, 2023
ABCA22Jul 29, 2022
ABCA319Feb 19, 2024
ABCA434Jan 26, 2024
ABCA76Jan 26, 2024
ABCB1133Jan 26, 2024
ABCB429Feb 19, 2024
ABCB72Feb 19, 2024
ABCC62Jun 21, 2023
ABCC8146Apr 3, 2024
ABCC979Jan 26, 2024
ABCD142Feb 19, 2024
ABCD417Jan 26, 2024
ABCG542Jan 26, 2024
ABCG873Jan 26, 2024
ABHD121Feb 19, 2024
ABHD14A-ACY12Dec 26, 2023
ABRAXAS186Feb 19, 2024
ACACA1Aug 25, 2023
ACAD82Dec 26, 2023
ACAD927Apr 3, 2024
ACADM78Feb 19, 2024
ACADS13Dec 26, 2023
ACADSB8Jan 26, 2024
ACADVL83Jan 26, 2024
ACAN21Feb 19, 2024
ACAT130Feb 19, 2024
ACAT21Nov 14, 2023
ACBD61Aug 30, 2022
ACD2Jan 26, 2024
ACE1Nov 10, 2022
ACER32Mar 6, 2020
ACO21Feb 19, 2024
ACOX14Oct 2, 2023
ACOX21Jan 26, 2024
ACP51Dec 14, 2022
ACSF328Jan 26, 2024
ACSL46Nov 14, 2023
ACSM31Dec 26, 2023
ACTA11May 17, 2023
ACTA217Oct 2, 2023
ACTA2-AS14Oct 2, 2023
ACTB3Jul 25, 2023
ACTC134Nov 14, 2023
ACTG14Feb 19, 2024
ACTL6B1Dec 14, 2022
ACTN13Oct 2, 2023
ACTN270Feb 19, 2024
ACVR11Jan 26, 2024
ACVRL15Jun 21, 2023
ACY12Dec 26, 2023
ACYP12Aug 30, 2022
ADA36Jan 26, 2024
ADA23Feb 19, 2024
ADAMTS1313Feb 19, 2024
ADAMTS241Jan 26, 2024
ADAMTSL22Jan 26, 2024
ADAR1Aug 25, 2023
ADAT32Dec 31, 2020
ADCY11Jan 26, 2024
ADCY53Nov 14, 2023
ADD31Oct 27, 2023
ADGRG12Oct 2, 2023
ADGRG61Jul 1, 2020
ADGRL12Feb 19, 2024
ADGRL1-AS12Feb 19, 2024
ADGRV162Feb 19, 2024
ADNP5Feb 19, 2024
ADNP-AS11May 17, 2023
ADRA2B1Mar 6, 2020
ADSL5Dec 26, 2023
ADSS11Nov 14, 2023
AFF24Apr 14, 2023
AFF31Jan 11, 2023
AFF42Jan 26, 2024
AFG2A3Jul 29, 2022
AFG3L212Feb 19, 2024
AGA14Feb 19, 2024
AGA-DT1Jan 25, 2018
AGBL51Jan 11, 2023
AGK1Jan 26, 2024
AGL58Feb 19, 2024
AGO11Oct 27, 2023
AGO22Dec 26, 2023
AGPAT26Jan 26, 2024
AGPS8May 17, 2023
AGRN3Feb 19, 2024
AGXT51Jan 26, 2024
AHCY1Jul 25, 2023
AHDC15Dec 26, 2023
AHI128Feb 19, 2024
AICDA6Jan 26, 2024
AIFM13Sep 14, 2022
AIMP13Dec 26, 2023
AIPL115Feb 19, 2024
AIRE48Feb 19, 2024
AK29Sep 14, 2022
AKAP9115Feb 19, 2024
AKR1D11Nov 14, 2023
AKT11Feb 19, 2024
AKT33Nov 10, 2022
ALAS21Jan 26, 2024
ALB1Nov 14, 2023
ALDH18A13Jul 25, 2023
ALDH3A235Dec 26, 2023
ALDH4A15Feb 19, 2024
ALDH5A17Feb 19, 2024
ALDH7A120Jan 26, 2024
ALDOB28Aug 25, 2023
ALG120Feb 19, 2024
ALG111Apr 19, 2022
ALG124Oct 13, 2022
ALG132Nov 14, 2023
ALG141May 17, 2023
ALG24Jul 25, 2023
ALG32Jun 21, 2023
ALG610Oct 2, 2023
ALK43Feb 19, 2024
ALMS1292Apr 3, 2024
ALOX12B16Jan 26, 2024
ALOXE310Jan 26, 2024
ALPK12Oct 2, 2023
ALPK348Apr 3, 2024
ALPL95Feb 19, 2024
ALS24Dec 26, 2023
ALX11Jan 11, 2023
ALX42Dec 26, 2023
AMACR1Oct 2, 2023
AMER13Feb 19, 2024
AMH3Aug 25, 2023
AMHR21Oct 2, 2023
AMPD17Feb 19, 2024
AMPD25Feb 19, 2024
AMT24Dec 26, 2023
ANG1Sep 14, 2022
ANGPT21Mar 11, 2022
ANK11Jun 21, 2023
ANK2141Feb 19, 2024
ANK34Dec 26, 2023
ANKRD126Jan 26, 2024
ANKRD1114Apr 3, 2024
ANKRD172Feb 19, 2024
ANKRD264Feb 19, 2024
ANO104Feb 19, 2024
ANO32Jun 21, 2023
ANO512Dec 26, 2023
ANO611Feb 19, 2024
ANOS12Oct 2, 2023
ANTXR211Oct 2, 2023
AOPEP51Jan 26, 2024
AP1G12Feb 19, 2024
AP1S11Jan 26, 2024
AP1S21Nov 14, 2023
AP3B116Dec 26, 2023
AP3B23Jan 26, 2024
AP3D15Oct 2, 2023
AP4B14Jul 25, 2023
AP4B1-AS12Jul 25, 2023
AP4E12Oct 13, 2022
AP4M14Dec 26, 2023
AP5Z14Nov 14, 2023
APBB12Sep 24, 2019
APC637Apr 3, 2024
APC27Feb 19, 2024
APIP1Dec 21, 2021
APOA117Oct 27, 2023
APOA1-AS11Oct 27, 2023
APOA214Oct 2, 2023
APOA520Oct 2, 2023
APOB33Feb 19, 2024
APOC39Oct 2, 2023
APP18Feb 19, 2024
APP-DT1Nov 14, 2023
APPL12Oct 27, 2023
APTX1Nov 14, 2023
AQP28Nov 14, 2023
AQP5-AS16Nov 14, 2023
AR8Feb 19, 2024
ARCN13Nov 14, 2023
ARF11Nov 14, 2023
ARFGEF16Feb 19, 2024
ARFGEF1-DT2Dec 26, 2023
ARG17Feb 19, 2024
ARHGAP317Feb 19, 2024
ARHGAP91Feb 19, 2024
ARHGEF103Feb 19, 2024
ARHGEF92Jul 15, 2022
ARID1A6Dec 26, 2023
ARID1B8Jan 26, 2024
ARID24Nov 14, 2023
ARID5A2Oct 27, 2023
ARL13B12Oct 2, 2023
ARL66Apr 14, 2023
ARMC52Dec 26, 2023
ARMC91Oct 27, 2023
ARSA72Jan 26, 2024
ARSB45Feb 19, 2024
ARSL2Apr 7, 2021
ARX9Feb 19, 2024
ASAH15Mar 16, 2023
ASB111Sep 9, 2020
ASH1L8Nov 14, 2023
ASIC4-AS13Nov 14, 2023
ASL46Nov 14, 2023
ASNS18Oct 27, 2023
ASPA39Oct 27, 2023
ASPH1Dec 21, 2021
ASPM9Oct 27, 2023
ASS158Feb 19, 2024
ASTN27May 17, 2023
ASXL19Nov 14, 2023
ASXL25Feb 19, 2024
ASXL35Apr 14, 2023
ATAD3A2Dec 26, 2023
ATIC1Feb 6, 2023
ATL12Jul 25, 2023
ATL33Nov 14, 2023
ATM1003Apr 3, 2024
ATN12Jul 25, 2023
ATP11A1Nov 14, 2023
ATP13A216Nov 14, 2023
ATP1A11Aug 30, 2022
ATP1A210Feb 19, 2024
ATP1A39Feb 19, 2024
ATP1B112Oct 2, 2023
ATP2A13Nov 14, 2023
ATP2A21Jan 26, 2024
ATP2B13Dec 26, 2023
ATP2B32Dec 26, 2023
ATP5MK1Oct 6, 2020
ATP6AP11Sep 14, 2022
ATP6AP22Jul 29, 2022
ATP6V0A28Mar 16, 2023
ATP6V0A414Feb 19, 2024
ATP6V1A2Jul 15, 2022
ATP6V1B113Oct 27, 2023
ATP6V1B1-AS11Apr 19, 2022
ATP6V1B21Nov 14, 2023
ATP6V1E11May 17, 2023
ATP7A15Apr 3, 2024
ATP7B326Apr 3, 2024
ATP8A24Dec 14, 2022
ATP8B125Oct 27, 2023
ATP8B1-AS14Oct 27, 2023
ATR12Oct 27, 2023
ATRIP11Oct 27, 2023
ATRIP-TREX111Oct 27, 2023
ATRX22Feb 19, 2024
ATXN71Jan 26, 2024
ATXN7L3-AS12Nov 14, 2023
AUH2Jan 26, 2024
AUTS24Feb 19, 2024
AVEN1Nov 14, 2023
AVIL1Dec 31, 2020
AVPR224Feb 19, 2024
AXDND114Aug 25, 2023
AXIN256Aug 25, 2023
AXL2Jan 26, 2024
B3GALNT22Jul 25, 2023
B3GLCT2Jul 15, 2022
B4GALNT11Jul 25, 2023
B4GALT12Jul 25, 2023
B4GALT71Dec 26, 2023
B9D15Jan 26, 2024
B9D27Oct 2, 2023
BAAT1Feb 19, 2024
BACH21Jan 26, 2024
BAG350Apr 3, 2024
BARD1221Apr 3, 2024
BBS132Jan 26, 2024
BBS1034Oct 2, 2023
BBS1214Jan 26, 2024
BBS236Jan 26, 2024
BBS414Jan 26, 2024
BBS59Jan 26, 2024
BBS76Feb 19, 2024
BBS99Feb 19, 2024
BCHE27Feb 19, 2024
BCKDHA27Feb 19, 2024
BCKDHB36Jan 26, 2024
BCL11A5Feb 19, 2024
BCL11B2Feb 19, 2024
BCL2L2-PABPN11Dec 14, 2022
BCOR2Jan 11, 2023
BCORL17Dec 26, 2023
BCS1L17Feb 19, 2024
BEST11May 17, 2023
BGN20Feb 19, 2024
BICD23Feb 19, 2024
BICRA3Jan 26, 2024
BIVM-ERCC526Aug 25, 2023
BLK6Oct 2, 2023
BLM100Jan 26, 2024
BLOC1S1-RDH51Oct 27, 2023
BLOC1S32Oct 27, 2023
BLOC1S64Dec 26, 2023
BLTP14Feb 19, 2024
BMP18Feb 19, 2024
BMP41Sep 14, 2022
BMPER3Dec 26, 2023
BMPR1A82Jan 26, 2024
BNAT11Nov 14, 2023
BOLA31Aug 25, 2023
BPTF4Jan 26, 2024
BRAF122Jan 26, 2024
BRAT13Feb 19, 2024
BRCA11513Apr 3, 2024
BRCA22600Apr 3, 2024
BRIP1279Apr 3, 2024
BRPF15Jan 26, 2024
BRSK21Jan 26, 2024
BRWD32Jun 21, 2023
BSCL23Oct 2, 2023
BSND13Jan 26, 2024
BTD55Jan 26, 2024
BTK43Dec 26, 2023
BUB1B2Nov 14, 2023
BUB1B-PAK61Jan 11, 2023
BVES1Nov 10, 2022
C10orf1056Jan 26, 2024
C10orf551Oct 13, 2022
C11orf65371Apr 3, 2024
C12orf433Oct 13, 2022
C12orf571Oct 13, 2022
C16orf891Feb 19, 2024
C17orf10712Jan 26, 2024
C19orf1212Jan 26, 2024
C1QTNF3-AMACR1Oct 2, 2023
C1R4Dec 26, 2023
C1S1Oct 13, 2022
C22Jan 26, 2024
C2CD32May 17, 2023
C312Feb 19, 2024
C53Jan 26, 2024
CA21Jan 26, 2024
CA5A2May 17, 2023
CACNA1A37Feb 19, 2024
CACNA1B5Nov 14, 2023
CACNA1C95Jan 26, 2024
CACNA1C-AS138Jan 26, 2024
CACNA1C-AS22Apr 7, 2021
CACNA1D10Feb 19, 2024
CACNA1E6Jan 26, 2024
CACNA1G12Feb 19, 2024
CACNA1H18Feb 19, 2024
CACNA1S26Feb 19, 2024
CACNA2D23Jan 26, 2024
CACNB229Nov 14, 2023
CACNB42Dec 26, 2023
CACNG21Apr 29, 2020
CACNG2-DT1Dec 26, 2023
CAD18Dec 26, 2023
CALCR1Jul 7, 2021
CALM11Aug 25, 2023
CALM22Nov 14, 2023
CALM34Dec 26, 2023
CALR314Oct 2, 2023
CAMK2A5Feb 19, 2024
CAMK2B4Apr 14, 2023
CAMK2G1Aug 25, 2023
CAMK41Jul 1, 2020
CAMTA17Dec 26, 2023
CANT11Feb 19, 2024
CAPN12Jan 26, 2024
CAPN367Feb 19, 2024
CAPRIN11Dec 26, 2023
CARD111Mar 16, 2023
CARD141Jan 25, 2018
CARS11Oct 27, 2023
CARS25Nov 14, 2023
CASD13Dec 26, 2023
CASK3Jan 26, 2024
CASP147Apr 14, 2023
CASQ13Jan 26, 2024
CASQ222Jan 26, 2024
CASR125Feb 19, 2024
CAT1Dec 26, 2023
CATIP-AS25Feb 19, 2024
CAV328Dec 26, 2023
CAVIN11Feb 19, 2024
CBL111Feb 19, 2024
CBS109Feb 19, 2024
CC2D1A8Dec 26, 2023
CC2D2A18Feb 19, 2024
CCBE12May 17, 2023
CCDC1071Mar 6, 2020
CCDC222Jan 26, 2024
CCDC401Jan 25, 2018
CCDC781May 17, 2023
CCDC814Feb 19, 2024
CCDC88C7Dec 26, 2023
CCDST2Feb 9, 2022
CCM24Dec 26, 2023
CCN69Aug 25, 2023
CCND11Oct 2, 2023
CCPG11Nov 14, 2023
CD1642Nov 14, 2023
CD2471Aug 30, 2022
CD367Feb 19, 2024
CD3D3Jan 26, 2024
CD3E9Mar 16, 2023
CD3G7Feb 6, 2023
CD409Nov 10, 2022
CD40LG11Aug 25, 2023
CD465Feb 19, 2024
CD8A2Jul 15, 2022
CD961Feb 19, 2024
CDAN13Dec 26, 2023
CDC421Jan 11, 2023
CDC42BPB4Jan 26, 2024
CDC7310Jan 26, 2024
CDCA72Nov 10, 2022
CDH1258Apr 3, 2024
CDH21Nov 10, 2022
CDH2388Feb 19, 2024
CDH23-AS12Dec 26, 2023
CDHR31Apr 14, 2023
CDK138Feb 19, 2024
CDK191Oct 27, 2023
CDK451Apr 3, 2024
CDK5RAP11Mar 6, 2020
CDK5RAP24Sep 14, 2022
CDKL510Feb 19, 2024
CDKN1C1Mar 16, 2023
CDKN2A71Apr 3, 2024
CDKN2A-AS12Mar 16, 2023
CDON2Jan 26, 2024
CDT13Jan 26, 2024
CEACAM161Jul 29, 2022
CEACAM16-AS11Jul 29, 2022
CEL2Nov 14, 2023
CENPE2Dec 26, 2023
CENPF8Nov 14, 2023
CENPJ1Feb 6, 2023
CEP10417Jan 26, 2024
CEP1202Jun 21, 2023
CEP1282Dec 26, 2023
CEP1525Oct 2, 2023
CEP1643Nov 14, 2023
CEP29068Feb 19, 2024
CEP634Feb 19, 2024
CEP85L1Mar 6, 2020
CERKL14Feb 19, 2024
CERS14Oct 2, 2023
CERS34Feb 6, 2023
CERS3-AS11Jan 6, 2022
CERT17Feb 19, 2024
CFAP4181May 17, 2023
CFAP927Aug 25, 2023
CFB3Jun 21, 2023
CFC11Mar 16, 2023
CFH7Feb 19, 2024
CFHR15Feb 19, 2024
CFHR26Nov 14, 2023
CFHR36Apr 3, 2024
CFHR46Dec 26, 2023
CFHR55Feb 19, 2024
CFI9Feb 19, 2024
CFTR1135Apr 3, 2024
CFTR-AS1110Apr 3, 2024
CHAMP12Jan 26, 2024
CHAT20Feb 19, 2024
CHCHD103Feb 19, 2024
CHCHD22Jun 21, 2023
CHD17Apr 3, 2024
CHD25Jan 26, 2024
CHD37Nov 14, 2023
CHD45Nov 14, 2023
CHD57Feb 19, 2024
CHD738Feb 19, 2024
CHD812Dec 26, 2023
CHEK13Jan 25, 2018
CHEK2230Apr 3, 2024
CHKB1Aug 25, 2023
CHKB-CPT1B1Aug 25, 2023
CHL11Oct 27, 2023
CHM1Nov 14, 2023
CHMP1A4Dec 26, 2023
CHMP2B1Sep 14, 2022
CHPT13Feb 26, 2021
CHRNA13Aug 25, 2023
CHRNA26Jan 26, 2024
CHRNA44Dec 26, 2023
CHRNA71Oct 2, 2023
CHRNB13Feb 19, 2024
CHRNB21Jun 21, 2023
CHRNE16Jan 26, 2024
CHRNG11Dec 26, 2023
CHST142Oct 22, 2021
CHST32Jan 26, 2024
CHST68Nov 14, 2023
CIB25Dec 26, 2023
CIC12Feb 19, 2024
CIITA4Oct 27, 2023
CISD21Jul 25, 2023
CITED22Oct 2, 2023
CKAP2L1Jan 26, 2024
CLASP13Aug 25, 2023
CLCF12Jul 15, 2022
CLCN133Feb 19, 2024
CLCN28Feb 19, 2024
CLCN44Dec 26, 2023
CLCN53Nov 14, 2023
CLCN61Feb 6, 2023
CLCN73Nov 14, 2023
CLCNKA2Jan 6, 2022
CLCNKB6Jul 25, 2023
CLDN141Jul 29, 2022
CLDN14-AS11Jul 29, 2022
CLIC22Nov 14, 2023
CLN327Feb 19, 2024
CLN520Dec 26, 2023
CLN622Dec 26, 2023
CLN818Dec 26, 2023
CLP11Dec 14, 2022
CLPB1Nov 14, 2023
CLPP1Dec 26, 2023
CLRN110Jan 26, 2024
CLRN1-AS11Jan 25, 2018
CLTC2Dec 26, 2023
CNGA14Feb 19, 2024
CNGA37Dec 26, 2023
CNGB111Feb 19, 2024
CNGB311Feb 19, 2024
CNKSR21Aug 5, 2021
CNNM23Feb 19, 2024
CNOT14Oct 2, 2023
CNOT21Jul 15, 2022
CNTN21Dec 31, 2020
CNTN41Nov 10, 2022
CNTN61Sep 14, 2022
CNTNAP13Oct 27, 2023
CNTNAP214Feb 19, 2024
CNTNAP51Nov 10, 2020
COASY7Jan 26, 2024
COBL1May 13, 2020
COCH2Feb 19, 2024
COG53Dec 26, 2023
COG61Feb 9, 2022
COG72Nov 14, 2023
COG81Mar 11, 2022
COL10A14Jan 26, 2024
COL11A119Feb 19, 2024
COL11A27Dec 26, 2023
COL12A16Nov 14, 2023
COL17A15Dec 26, 2023
COL18A114Feb 19, 2024
COL1A155Jan 26, 2024
COL1A250Feb 19, 2024
COL27A19Nov 14, 2023
COL2A116Feb 19, 2024
COL3A1130Feb 19, 2024
COL4A119Feb 19, 2024
COL4A220Feb 19, 2024
COL4A2-AS12Nov 14, 2023
COL4A2-AS24Feb 19, 2024
COL4A398Feb 19, 2024
COL4A433Feb 19, 2024
COL4A541Feb 19, 2024
COL4A64Jan 26, 2024
COL5A1148Feb 19, 2024
COL5A287Feb 19, 2024
COL6A110Dec 26, 2023
COL6A29Jan 26, 2024
COL6A321Feb 19, 2024
COL7A171Feb 19, 2024
COL8A21Sep 14, 2022
COL9A16Jan 26, 2024
COL9A212Jan 26, 2024
COL9A38Dec 26, 2023
COLEC111Nov 14, 2023
COLGALT11Nov 14, 2023
COLQ12Jan 26, 2024
COMP1Nov 10, 2022
COPA1May 12, 2022
COQ23Feb 19, 2024
COQ41Jul 25, 2023
COQ71Oct 27, 2023
COQ8A3Nov 14, 2023
COQ8B1Feb 19, 2024
COQ92Nov 14, 2023
CORO1A4Dec 26, 2023
COX101Apr 19, 2022
COX1510Apr 3, 2024
COX202Jun 21, 2023
COX6A12Jan 26, 2024
CP16Aug 25, 2023
CPA63Jan 26, 2024
CPEB1-AS13Jan 26, 2024
CPLANE142Feb 19, 2024
CPOX1May 17, 2023
CPS158Jan 26, 2024
CPSF11Feb 19, 2024
CPT1A9Nov 14, 2023
CPT1C6Dec 26, 2023
CPT241Jan 26, 2024
CR21Aug 25, 2023
CRADD1Jan 26, 2024
CRB119Feb 19, 2024
CRB25Oct 27, 2023
CRBN1Mar 6, 2020
CREB3L12Jan 26, 2024
CREBBP13Feb 19, 2024
CRELD11Dec 26, 2023
CRIPT1Aug 30, 2022
CRLF19Feb 19, 2024
CRTAP5Mar 16, 2023
CRYAB3Dec 26, 2023
CRYBA41Oct 6, 2020
CRYBB11Oct 6, 2020
CSDE11Apr 19, 2022
CSF1R3Oct 27, 2023
CSF2RA2Mar 6, 2020
CSNK2B2Jan 11, 2023
CSPP12Dec 26, 2023
CSRP316Feb 19, 2024
CSTB1Oct 13, 2022
CTC113Feb 19, 2024
CTCF5Oct 27, 2023
CTF18Jun 21, 2023
CTNNA22Nov 14, 2023
CTNNA324Feb 19, 2024
CTNNB16Nov 14, 2023
CTNND11Mar 16, 2023
CTNS42Jan 26, 2024
CTNS-AS116Jan 11, 2023
CTSA17Oct 2, 2023
CTSB1Dec 31, 2020
CTSC4Oct 27, 2023
CTSD8Dec 26, 2023
CTSF11Jan 26, 2024
CTSK6Jan 26, 2024
CTU21Feb 19, 2024
CTXN2-AS14Jan 11, 2023
CUBN4Feb 19, 2024
CUL31Oct 13, 2022
CUL4B2Oct 27, 2023
CUL721Feb 19, 2024
CUX17Dec 26, 2023
CUX24Jun 21, 2023
CWF19L12Dec 26, 2023
CYB561D22Jan 26, 2024
CYB5R32Oct 2, 2023
CYBA13Feb 19, 2024
CYBB35Feb 19, 2024
CYFIP24Aug 25, 2023
CYGB1Mar 11, 2022
CYP11A12Jan 26, 2024
CYP11B142Jan 26, 2024
CYP11B25Feb 19, 2024
CYP17A118Feb 19, 2024
CYP17A1-AS12Sep 14, 2022
CYP19A12Jun 21, 2023
CYP1B146Feb 19, 2024
CYP21A241Jan 26, 2024
CYP24A13Mar 16, 2023
CYP27A128Apr 3, 2024
CYP27B13Oct 2, 2023
CYP2R11Feb 6, 2023
CYP2U11Oct 13, 2022
CYP2U1-AS11Oct 13, 2022
CYP4F2212Oct 2, 2023
CYP7B14Jul 25, 2023
CZ1P-ASNS18Oct 27, 2023
D2HGDH4Jun 21, 2023
DAG12Dec 26, 2023
DARS24Jan 26, 2024
DBH1Jan 26, 2024
DBNL2Oct 27, 2023
DBT24Jan 26, 2024
DCAF176Jul 25, 2023
DCAF84Dec 26, 2023
DCC6Jan 26, 2024
DCHS12Dec 26, 2023
DCLRE1B1Mar 6, 2020
DCLRE1C17Jan 26, 2024
DCPS4Mar 16, 2023
DCTN15Feb 19, 2024
DDB21Mar 16, 2023
DDC11Jan 26, 2024
DDC-AS12Aug 25, 2023
DDHD22Jul 25, 2023
DDR24Oct 2, 2023
DDX113Nov 14, 2023
DDX3X7Jan 26, 2024
DDX64Nov 14, 2023
DEAF16Feb 19, 2024
DENND5A1Jan 11, 2023
DEPDC511Feb 19, 2024
DES39Nov 14, 2023
DES-LCR1Nov 10, 2020
DGKE6Jan 26, 2024
DGUOK9Feb 19, 2024
DGUOK-AS12Oct 2, 2023
DHCR241Jan 11, 2023
DHCR785Feb 19, 2024
DHDDS6Aug 25, 2023
DHODH1Aug 25, 2023
DHTKD114Feb 19, 2024
DHX305Nov 14, 2023
DHX371Oct 2, 2023
DIABLO1Jan 26, 2024
DIAPH12Apr 14, 2023
DIAPH33Feb 19, 2024
DICER11Apr 29, 2020
DIP2B2Oct 27, 2023
DKC11May 12, 2022
DLAT5Jul 25, 2023
DLD9May 17, 2023
DLG35Feb 19, 2024
DLG47Jan 26, 2024
DLL14Feb 19, 2024
DLL31Apr 24, 2019
DLL41Oct 6, 2020
DMAC2L1Jul 25, 2023
DMD341Apr 3, 2024
DMP11Dec 26, 2023
DMPK1Feb 19, 2024
DMXL26Feb 19, 2024
DNA214Feb 19, 2024
DNAAF32Jan 6, 2022
DNAAF3-AS11Jan 6, 2022
DNAAF4-CCPG11Nov 14, 2023
DNAH54Jan 26, 2024
DNAH72Mar 6, 2020
DNAH91Oct 13, 2022
DNAI22Aug 25, 2023
DNAJB61Dec 26, 2023
DNAJC196May 17, 2023
DNAJC51Jul 25, 2023
DNAJC61Jan 26, 2024
DNASE11Jan 26, 2024
DNASE1L11Aug 18, 2011
DNM16Jan 26, 2024
DNM1L5Jan 26, 2024
DNM22Dec 26, 2023
DNMT13Feb 19, 2024
DNMT3A1Dec 26, 2023
DNMT3B5Jan 26, 2024
DOCK32Sep 9, 2020
DOCK62Mar 16, 2023
DOCK77Feb 19, 2024
DOCK831Feb 19, 2024
DOCK8-AS12Mar 11, 2022
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OBSL141Feb 19, 2024
OCA232Feb 19, 2024
OCRL9Feb 19, 2024
ODAD21Oct 2, 2023
ODC11Oct 27, 2023
OFD17Feb 19, 2024
OGDHL1May 17, 2023
OMG1Oct 2, 2023
OPA121Feb 19, 2024
OPA1-AS11Jul 25, 2023
OPA32Oct 2, 2023
OPHN13Feb 6, 2023
OPTN1Dec 26, 2023
ORAI14Feb 19, 2024
ORC61Feb 19, 2024
OSGIN21Sep 1, 2021
OSMR2Oct 27, 2023
OSTM13Apr 14, 2023
OTC32Oct 27, 2023
OTOA2Nov 14, 2023
OTOF51Feb 19, 2024
OTOG2Apr 14, 2023
OTUD51Sep 1, 2021
OTUD6B2Mar 6, 2020
OXR11Apr 19, 2022
OXTR21Nov 14, 2023
P2RX22Feb 19, 2024
P2RY122Nov 10, 2022
P3H17Feb 19, 2024
PABPN11Dec 14, 2022
PACS15Dec 26, 2023
PACS22Oct 27, 2023
PAFAH1B11Nov 14, 2023
PAH230Feb 19, 2024
PAK32Oct 2, 2023
PAK61Jan 11, 2023
PALB2374Apr 3, 2024
PANK229Feb 19, 2024
PARK71Dec 26, 2023
PARS21Nov 16, 2021
PAX12Oct 2, 2023
PAX22Feb 19, 2024
PAX33Aug 25, 2023
PAX46Aug 25, 2023
PAX61Jan 26, 2024
PAX82Nov 14, 2023
PC6Feb 19, 2024
PCCA47Feb 19, 2024
PCCB48Feb 19, 2024
PCDH1572Jan 26, 2024
PCDH196Feb 19, 2024
PCLO10Jan 26, 2024
PCNT3Jan 26, 2024
PCSK51Apr 19, 2022
PCSK9117Apr 3, 2024
PDCD22Jul 15, 2022
PDE10A1Nov 14, 2023
PDE11A3Dec 26, 2023
PDE11A-AS11Feb 9, 2022
PDE3A4Dec 26, 2023
PDE3A-AS11Aug 30, 2022
PDE6A4Aug 25, 2023
PDE8B4Feb 19, 2024
PDGFB1Nov 10, 2022
PDGFRB2Feb 19, 2024
PDHA113Feb 19, 2024
PDHB4Nov 14, 2023
PDHX12Oct 27, 2023
PDK32Nov 14, 2023
PDLIM317Feb 19, 2024
PDP11Mar 11, 2022
PDSS23Aug 25, 2023
PDX122Oct 27, 2023
PDYN1Aug 25, 2023
PDYN-AS11Aug 25, 2023
PDZD71Mar 16, 2023
PDZD82Feb 19, 2024
PDZD91Jun 21, 2023
PEPD1Sep 14, 2022
PET1001Oct 2, 2023
PEX152Dec 26, 2023
PEX1018Mar 16, 2023
PEX11B2Sep 14, 2022
PEX1217Nov 14, 2023
PEX134Jan 26, 2024
PEX143Oct 2, 2023
PEX162Jun 21, 2023
PEX191Nov 16, 2021
PEX212Jan 26, 2024
PEX268Jan 11, 2023
PEX34Dec 26, 2023
PEX57Jan 26, 2024
PEX638Jan 26, 2024
PEX721Apr 3, 2024
PFAS1Jul 25, 2023
PFKM6May 17, 2023
PFN12Apr 14, 2023
PGAM22Oct 27, 2023
PGAP31Jan 11, 2023
PGBD34Jul 25, 2023
PGGHG1Jul 25, 2023
PGK14Feb 19, 2024
PGM14Jan 26, 2024
PGM38Jan 26, 2024
PHACTR12Feb 19, 2024
PHEX19Feb 19, 2024
PHF21A2May 12, 2022
PHF326Feb 19, 2024
PHF84Oct 27, 2023
PHGDH13Jan 26, 2024
PHIP5Nov 14, 2023
PHKA110Jan 26, 2024
PHKA213Feb 19, 2024
PHKA2-AS13Nov 14, 2023
PHKB22Jan 26, 2024
PHKG27Feb 19, 2024
PHOX2B12Nov 14, 2023
PHOX2B-AS11Jan 25, 2018
PHYH3Feb 19, 2024
PI4KA4Dec 26, 2023
PIBF11Jan 26, 2024
PIDD18Jan 26, 2024
PIEZO12Aug 25, 2023
PIEZO210Feb 19, 2024
PIGA2Feb 19, 2024
PIGB2Jan 26, 2024
PIGG4Dec 26, 2023
PIGL1Oct 13, 2022
PIGN6Oct 27, 2023
PIGO3Dec 26, 2023
PIGQ1Apr 14, 2023
PIGT1Aug 25, 2023
PIGW3Jun 21, 2023
PIH1D21Jul 15, 2022
PIK3CA4Nov 14, 2023
PIK3CG1Nov 14, 2023
PIK3R13Jun 21, 2023
PIK3R21Dec 26, 2023
PIP5K1C2Feb 19, 2024
PIRC662Jun 21, 2023
PITX21Feb 9, 2022
PKD148Feb 19, 2024
PKD1-AS16Jun 21, 2023
PKD1L12Aug 30, 2022
PKD26Jun 21, 2023
PKD2L2-DT13Jan 26, 2024
PKHD1250Apr 3, 2024
PKLR5Dec 26, 2023
PKP2119Apr 3, 2024
PLA2G640Jan 26, 2024
PLA2G74Dec 26, 2023
PLAG11Feb 6, 2023
PLAU1Oct 13, 2022
PLCG22Nov 14, 2023
PLCH23Mar 16, 2023
PLD11Dec 31, 2020
PLEC9Feb 19, 2024
PLEKHG28Feb 19, 2024
PLEKHG513Feb 19, 2024
PLG11Feb 19, 2024
PLN1Mar 6, 2020
PLOD155Feb 19, 2024
PLOD211Jan 26, 2024
PLOD31Aug 25, 2023
PLP12Feb 19, 2024
PLUT7Sep 24, 2019
PLXNA12Feb 19, 2024
PLXNA31Jan 26, 2024
PMM277Oct 27, 2023
PMP223Aug 25, 2023
PMS2467Apr 3, 2024
PNKD5Feb 19, 2024
PNKP5Feb 19, 2024
PNP8Dec 26, 2023
PNPLA19Feb 19, 2024
PNPLA21Oct 27, 2023
PNPLA65Jan 26, 2024
PNPLA83Oct 2, 2023
PNPO9Aug 25, 2023
PNPT17Feb 19, 2024
POC1A1Jul 25, 2023
POGLUT11Dec 26, 2023
POGZ6Feb 19, 2024
POLA15Oct 27, 2023
POLD1103Dec 26, 2023
POLE158Apr 3, 2024
POLG74Feb 19, 2024
POLG26Dec 26, 2023
POLGARF74Feb 19, 2024
POLH12May 17, 2023
POLK2Nov 14, 2023
POLR1A1Jan 11, 2023
POLR1B1May 12, 2022
POLR1C21Feb 19, 2024
POLR2A2Sep 14, 2022
POLR2F4Nov 14, 2023
POLR3A6Jan 26, 2024
POLR3B3Apr 14, 2023
POLR3GL1Dec 26, 2023
POLRMT6Nov 14, 2023
POMGNT115Jan 26, 2024
POMK1Feb 9, 2022
POMP1Mar 11, 2022
POMT121Nov 14, 2023
POMT221Feb 19, 2024
PON224Jan 26, 2024
POP11Jan 26, 2024
POR16Feb 19, 2024
POT11Dec 14, 2022
POU1F16Feb 19, 2024
POU3F41Dec 26, 2023
PPA22Sep 14, 2022
PPARG1Dec 14, 2022
PPFIBP11Feb 19, 2024
PPIB6Jan 26, 2024
PPM1D3Jun 21, 2023
PPOX1Nov 14, 2023
PPP1CB8Feb 19, 2024
PPP1R211Nov 14, 2023
PPP2CA2Jan 26, 2024
PPP2R1A6Feb 19, 2024
PPP2R3C1Oct 27, 2023
PPP2R5D4Jan 26, 2024
PPP3CA2Aug 25, 2023
PPT126Jan 26, 2024
PQBP12Oct 2, 2023
PRADX1Jan 6, 2022
PRCD1Mar 11, 2022
PRDM1645Feb 19, 2024
PRDM57Apr 14, 2023
PREPL1Oct 2, 2023
PRF144Feb 19, 2024
PRICKLE13Dec 26, 2023
PRKAG238Jan 26, 2024
PRKAR1A59Dec 26, 2023
PRKCG5Jan 26, 2024
PRKD12Nov 14, 2023
PRKDC20Feb 19, 2024
PRKG130Feb 19, 2024
PRKN5Jan 26, 2024
PRMT73Aug 25, 2023
PRNP5Feb 19, 2024
PROC5Dec 26, 2023
PRODH5Dec 26, 2023
PROK21Nov 14, 2023
PROKR210Nov 14, 2023
PROP17Oct 2, 2023
PRPH2Nov 14, 2023
PRPH21Dec 26, 2023
PRR121Oct 13, 2022
PRRT29Feb 19, 2024
PRSS172Feb 19, 2024
PRSS128Dec 26, 2023
PSAP10Jan 26, 2024
PSAT12Oct 2, 2023
PSEN112Jan 26, 2024
PSEN24Jan 26, 2024
PSMB81Oct 13, 2022
PSMB8-AS11Jul 25, 2023
PSMD122Apr 14, 2023
PTCD32May 12, 2022
PTCH149Feb 19, 2024
PTCH24Jan 26, 2024
PTCHD12Mar 11, 2022
PTCHD1-AS5Oct 27, 2023
PTEN131Apr 3, 2024
PTHLH1Aug 5, 2021
PTPN11145Feb 19, 2024
PTPN235Apr 3, 2024
PTPRC7Feb 19, 2024
PTPRQ2Jul 25, 2023
PTPRT1Nov 14, 2023
PTS15Jan 26, 2024
PUF602Nov 14, 2023
PUM15Dec 26, 2023
PURA2Dec 26, 2023
PUS16Oct 2, 2023
PUS35Dec 26, 2023
PUS71Sep 14, 2022
PYCR113Dec 26, 2023
PYCR22Dec 26, 2023
PYGL6Jan 26, 2024
PYGM38Jan 26, 2024
QARS11Jan 26, 2024
QDPR8Jul 25, 2023
QRICH12Feb 6, 2023
QRSL11Oct 27, 2023
RAB235Jan 26, 2024
RAB27A2Sep 14, 2022
RAB33A3Sep 14, 2022
RAB39B1Jun 21, 2023
RAB3GAP12Oct 27, 2023
RAB3GAP21Nov 10, 2022
RAB7A1Dec 26, 2023
RAB9B2Feb 19, 2024
RAC12Jan 26, 2024
RAD211Nov 10, 2020
RAD50108Apr 3, 2024
RAD511Feb 19, 2024
RAD51C119Feb 19, 2024
RAD51D107Feb 19, 2024
RAD51L3-RFFL105Feb 19, 2024
RAF192Apr 3, 2024
RAG139Dec 26, 2023
RAG217Oct 2, 2023
RAI16Dec 26, 2023
RALA1Nov 14, 2023
RANBP24Aug 25, 2023
RANGRF1May 17, 2023
RAPSN11Oct 27, 2023
RARS11Oct 2, 2023
RARS228Feb 19, 2024
RASA296Apr 3, 2024
RASGRP11May 12, 2022
RASGRP25Feb 19, 2024
RB127Dec 26, 2023
RBBP81Oct 27, 2023
RBCK11Oct 2, 2023
RBM103Oct 27, 2023
RBM2068Feb 19, 2024
RBM281Nov 14, 2023
RBM8A3Jul 25, 2023
RBMX2Nov 14, 2023
RBPJ1Dec 26, 2023
RBX11Nov 14, 2023
RD31Jan 6, 2022
RDH1219Feb 19, 2024
RDH51Oct 27, 2023
RECQL49Nov 14, 2023
REEP21May 17, 2023
RELN22Feb 19, 2024
RERE10Jan 26, 2024
REST1Dec 14, 2022
RET66Feb 19, 2024
RETREG11Oct 2, 2023
RETREG1-AS11Oct 2, 2023
RFT11Jul 25, 2023
RFX510Jan 26, 2024
RFX73Feb 19, 2024
RFXANK3Nov 10, 2022
RFXAP3Aug 30, 2022
RHAG3Oct 27, 2023
RHOBTB22Dec 26, 2023
RIF163Feb 19, 2024
RIGI1May 12, 2022
RIMS11Nov 10, 2020
RIN22Jun 21, 2023
RIT134Feb 19, 2024
RLBP112Oct 2, 2023
RLIG14Feb 19, 2024
RLIM1Jan 26, 2024
RMND11Jul 29, 2022
RMRP89Jan 26, 2024
RNASE41Sep 14, 2022
RNASEH11Oct 27, 2023
RNASEH2A6Apr 3, 2024
RNASEH2B10Jan 26, 2024
RNASEH2B-AS11Oct 2, 2023
RNASEH2C3Oct 2, 2023
RNASET21May 17, 2023
RNF1702Apr 14, 2023
RNF21Nov 14, 2023
RNF2137Jan 26, 2024
RNF213-AS11Apr 14, 2023
RNU4ATAC3Aug 25, 2023
ROBO11Aug 25, 2023
ROGDI1Dec 14, 2022
ROR22Oct 27, 2023
RORA4Apr 14, 2023
RORA-AS13Apr 14, 2023
RP1L11May 17, 2023
RP27Feb 6, 2023
RPE6528Feb 19, 2024
RPGR17Feb 19, 2024
RPGRIP124Jan 26, 2024
RPGRIP1L21Nov 14, 2023
RPH3A1Mar 6, 2020
RPIA4Feb 19, 2024
RPL101Jul 25, 2023
RPL271Dec 14, 2022
RPL36A-HNRNPH2198Apr 3, 2024
RPL3L2Jul 25, 2023
RPS192Oct 2, 2023
RPS231Mar 16, 2023
RPS6KA34Feb 19, 2024
RRAS49Nov 14, 2023
RRM2B3Oct 27, 2023
RS16Jan 26, 2024
RTEL126Feb 19, 2024
RTEL1-TNFRSF6B26Feb 19, 2024
RTN23Dec 26, 2023
RTN4IP13Oct 2, 2023
RTTN4Jan 26, 2024
RUNX22Jun 21, 2023
RXYLT11Jan 26, 2024
RYR188Feb 19, 2024
RYR2342Feb 19, 2024
RYR36Dec 26, 2023
SACS67Jan 26, 2024
SAG1Oct 2, 2023
SALL43Dec 26, 2023
SAMD94Nov 14, 2023
SAMD9L5Jan 26, 2024
SAMHD113Oct 27, 2023
SARM13Feb 19, 2024
SASH11Oct 27, 2023
SASS61Jun 21, 2023
SATB22Nov 14, 2023
SBDS1May 17, 2023
SBF110Feb 19, 2024
SBF21Dec 26, 2023
SCAMP42Dec 31, 2020
SCARB21Nov 14, 2023
SCN10A34Feb 19, 2024
SCN11A9Feb 19, 2024
SCN1A67Feb 19, 2024
SCN1A-AS115Feb 19, 2024
SCN1B24Feb 19, 2024
SCN2A13Feb 19, 2024
SCN2B5Feb 19, 2024
SCN3B4Jan 26, 2024
SCN4A15Feb 19, 2024
SCN4B12Dec 26, 2023
SCN5A207Feb 19, 2024
SCN8A12Feb 19, 2024
SCN9A17Feb 19, 2024
SCNN1B7Nov 14, 2023
SCNN1G2Dec 26, 2023
SCO11Jul 25, 2023
SCO29Feb 19, 2024
SCUBE31Nov 14, 2023
SDCCAG813May 17, 2023
SDHA15Feb 19, 2024
SDHAF12Oct 2, 2023
SDHAF21Nov 10, 2020
SDHB37Jan 26, 2024
SDHC9Nov 14, 2023
SDHD11Aug 30, 2022
SDR9C75Jan 26, 2024
SEC23B5Dec 26, 2023
SEC24D2Oct 13, 2022
SEC31A3Feb 19, 2024
SEC631Aug 5, 2021
SECISBP21Oct 2, 2023
SELENON20Jan 26, 2024
SEMA3E1Feb 6, 2023
SEPSECS6Jan 26, 2024
SEPT5-GP1BB4Feb 19, 2024
SEPTIN92Dec 26, 2023
SEPTIN9-DT1Nov 10, 2022
SERAC11Jul 25, 2023
SERPINA18Aug 25, 2023
SERPINC12Oct 22, 2021
SERPINF112Oct 2, 2023
SERPINH14Dec 26, 2023
SERPINI11Oct 27, 2023
SET1Nov 14, 2023
SETBP113Feb 19, 2024
SETD1A11Feb 19, 2024
SETD1B7Jan 26, 2024
SETD28Feb 19, 2024
SETD54Nov 14, 2023
SETX17Feb 19, 2024
SF3B11Aug 5, 2021
SF3B41Jun 21, 2023
SFTA31Mar 6, 2020
SGCA21Feb 19, 2024
SGCB8Feb 19, 2024
SGCD25Jan 26, 2024
SGCE4Dec 26, 2023
SGCG14Jan 26, 2024
SGSH46Feb 19, 2024
SH2B11Feb 19, 2024
SH2D1A3Apr 24, 2019
SH3PXD2B3Jul 25, 2023
SH3TC27Oct 27, 2023
SHANK25Feb 19, 2024
SHANK33Dec 26, 2023
SHH1Feb 6, 2023
SHMT21Feb 19, 2024
SHOC243Jan 26, 2024
SHOX32Feb 19, 2024
SHROOM43Oct 27, 2023
SI7Feb 19, 2024
SIAE1Mar 16, 2023
SIK15Feb 19, 2024
SIL13Dec 26, 2023
SIM11Dec 2, 2020
SIM1-AS11Dec 2, 2020
SIN3A7Feb 19, 2024
SIX12Nov 10, 2022
SIX31Nov 14, 2023
SKI32Oct 2, 2023
SKIC214Apr 14, 2023
SKIC321Jan 26, 2024
SLC12A111Apr 14, 2023
SLC12A21May 17, 2023
SLC12A335Feb 19, 2024
SLC12A55Jan 26, 2024
SLC12A5-AS11May 12, 2022
SLC12A619Jan 26, 2024
SLC13A51Aug 25, 2023
SLC16A14Jan 26, 2024
SLC16A24Jul 29, 2022
SLC17A525Jan 26, 2024
SLC17A83Oct 2, 2023
SLC19A17Feb 19, 2024
SLC19A21Feb 19, 2024
SLC19A33Jun 21, 2023
SLC1A11Feb 19, 2024
SLC1A24Feb 19, 2024
SLC1A31Jan 11, 2023
SLC1A42Oct 2, 2023
SLC20A24Jan 26, 2024
SLC22A41Jan 11, 2023
SLC22A582Feb 19, 2024
SLC25A12Mar 6, 2020
SLC25A1324Feb 19, 2024
SLC25A156Oct 27, 2023
SLC25A2024Feb 19, 2024
SLC25A221Jun 21, 2023
SLC25A241Jan 26, 2024
SLC25A263Jan 26, 2024
SLC25A321Jan 26, 2024
SLC25A351May 17, 2023
SLC25A45Nov 14, 2023
SLC26A119Aug 25, 2023
SLC26A112May 12, 2022
SLC26A231Feb 19, 2024
SLC26A34Dec 26, 2023
SLC26A485Feb 19, 2024
SLC26A4-AS16Apr 14, 2023
SLC26A5-AS16Feb 19, 2024
SLC27A47Nov 14, 2023
SLC2A112Feb 19, 2024
SLC2A1054Feb 19, 2024
SLC2A22Oct 2, 2023
SLC30A102Jun 21, 2023
SLC33A16Feb 19, 2024
SLC34A312Feb 19, 2024
SLC35A22Feb 19, 2024
SLC35A34Oct 2, 2023
SLC35C11Dec 26, 2023
SLC35D2-HSD17B31Aug 25, 2023
SLC36A111Dec 26, 2023
SLC37A440Feb 19, 2024
SLC39A131May 12, 2022
SLC39A142Dec 26, 2023
SLC39A43Jan 26, 2024
SLC39A51Oct 6, 2020
SLC39A81Apr 14, 2023
SLC3A14Dec 26, 2023
SLC40A11Apr 19, 2022
SLC44A43Feb 19, 2024
SLC45A23Oct 27, 2023
SLC46A15Feb 19, 2024
SLC4A11Dec 26, 2023
SLC4A1124Jan 26, 2024
SLC52A22Jul 25, 2023
SLC52A32Oct 2, 2023
SLC5A52Oct 2, 2023
SLC5A61Jan 11, 2023
SLC5A72Nov 14, 2023
SLC6A16Feb 19, 2024
SLC6A171Dec 26, 2023
SLC6A199Feb 19, 2024
SLC6A816Feb 19, 2024
SLC6A92Oct 2, 2023
SLC7A141Nov 10, 2022
SLC7A14-AS11Nov 10, 2022
SLC7A6OS1Oct 27, 2023
SLC7A715Jan 26, 2024
SLC7A91May 17, 2023
SLC9A11Jan 6, 2022
SLC9A62Nov 14, 2023
SLC9A73Nov 10, 2022
SLC9A92Nov 14, 2023
SLCO1B11Jan 11, 2023
SLCO1B31Jan 11, 2023
SLCO1B3-SLCO1B71Jan 11, 2023
SLFN141Feb 9, 2022
SLITRK12Dec 26, 2023
SLITRK21Feb 19, 2024
SLMAP7Feb 19, 2024
SLX48Jan 26, 2024
SMAD214Oct 2, 2023
SMAD329Feb 19, 2024
SMAD477Apr 3, 2024
SMAD624Feb 19, 2024
SMARCA11Nov 10, 2022
SMARCA28Feb 19, 2024
SMARCA42Nov 14, 2023
SMARCB110May 17, 2023
SMARCC24Dec 26, 2023
SMARCE12Aug 25, 2023
SMC1A3Feb 19, 2024
SMC34Nov 14, 2023
SMCHD13Dec 26, 2023
SMG82Nov 14, 2023
SMG91Jan 26, 2024
SMN143Nov 14, 2023
SMN21Apr 29, 2020
SMPD196Jan 26, 2024
SMPX1May 12, 2022
SNAPC57Jan 11, 2023
SNCB1Nov 14, 2023
SNHG142Jan 26, 2024
SNHG315Jul 25, 2023
SNIP11Apr 14, 2023
SNORD1184Feb 19, 2024
SNTA131Feb 19, 2024
SNX145Oct 27, 2023
SNX224Jan 26, 2024
SOCS12Jan 11, 2023
SOD12Dec 26, 2023
SON9Feb 19, 2024
SORD3Nov 14, 2023
SOS1184Apr 3, 2024
SOS2141Feb 19, 2024
SOX104Nov 14, 2023
SOX113Dec 26, 2023
SOX33Dec 26, 2023
SOX43Dec 26, 2023
SOX52Nov 14, 2023
SOX64Jan 26, 2024
SP1105Mar 16, 2023
SP1403Mar 16, 2023
SPAG81Dec 14, 2022
SPARC1Mar 11, 2022
SPAST13Dec 26, 2023
SPATA2237Oct 27, 2023
SPATA720Feb 19, 2024
SPECC1L2Oct 2, 2023
SPECC1L-ADORA2A2Oct 2, 2023
SPEG2Nov 14, 2023
SPEN1Nov 14, 2023
SPG1154Feb 19, 2024
SPG211Feb 19, 2024
SPG736Jan 26, 2024
SPINK136Nov 14, 2023
SPINK51Jan 26, 2024
SPOP1Apr 19, 2022
SPR1Mar 6, 2020
SPRED158Jan 26, 2024
SPTA11Apr 19, 2022
SPTAN16Feb 19, 2024
SPTBN17Dec 26, 2023
SPTBN1-AS21Nov 14, 2023
SPTBN217Feb 19, 2024
SPTBN45Feb 19, 2024
SPTLC13Jan 26, 2024
SPTLC21Jan 26, 2024
SQSTM12Oct 27, 2023
SRCAP18Feb 19, 2024
SRD5A27Oct 27, 2023
SRFBP117Feb 19, 2024
SRGAP11Feb 26, 2021
SRP721Jun 21, 2023
SRPX22Jul 25, 2023
SRRM22Jan 26, 2024
SSR42Jan 26, 2024
SSUH24Dec 26, 2023
ST3GAL51Aug 25, 2023
STAC31Sep 14, 2022
STAG16Feb 19, 2024
STAG21Dec 26, 2023
STAMBP2Nov 14, 2023
STAR10Feb 19, 2024
STAT11May 12, 2022
STAT348Feb 19, 2024
STAT5B5Feb 19, 2024
STEEP11Jul 29, 2022
STIL1May 12, 2022
STIM16Feb 19, 2024
STK11161Feb 19, 2024
STK42Feb 6, 2023
STON1-GTF2A1L4Dec 26, 2023
STRA61Dec 14, 2022
STRC5Nov 14, 2023
STUB13Feb 19, 2024
STX115Dec 26, 2023
STXBP13Jul 25, 2023
STXBP226Jan 26, 2024
STYXL21Mar 6, 2020
SUCLA22Aug 25, 2023
SUCLG12Nov 14, 2023
SUFU10Jan 26, 2024
SUGCT3Nov 14, 2023
SUMF120Dec 26, 2023
SUOX15Feb 19, 2024
SURF154Feb 19, 2024
SUZ121Sep 14, 2022
SVIL1Dec 14, 2022
SYCE24Aug 30, 2022
SYK1Oct 27, 2023
SYN14Dec 26, 2023
SYNE147Feb 19, 2024
SYNE212Feb 19, 2024
SYNE46Feb 19, 2024
SYNGAP112Dec 26, 2023
SYNGAP1-AS111Dec 26, 2023
SYNJ14Feb 6, 2023
SYP3Nov 14, 2023
SYP-AS11Jun 21, 2023
SYT24Oct 2, 2023
SZT220Feb 19, 2024
SZT2-AS12Feb 19, 2024
TAB24Oct 27, 2023
TAF16Nov 14, 2023
TAF22Jul 29, 2022
TAF42Jan 26, 2024
TAF62Dec 21, 2021
TAFAZZIN9Apr 14, 2023
TANC22Oct 2, 2023
TANGO22Jul 29, 2022
TAOK11Mar 6, 2020
TAOK21Dec 14, 2022
TAP12Jul 25, 2023
TAP21Apr 14, 2023
TARDBP1Nov 10, 2022
TARID7Aug 25, 2023
TASP11Jan 11, 2023
TAT4Aug 25, 2023
TAT-AS14Aug 25, 2023
TATDN11Apr 3, 2024
TBC1D243Dec 26, 2023
TBCD9Feb 19, 2024
TBCE4Jan 26, 2024
TBCEL-TECTA3Dec 26, 2023
TBCK4Apr 14, 2023
TBK12Dec 26, 2023
TBL1XR13Jan 26, 2024
TBL1XR1-AS11Oct 27, 2023
TBR11Jul 7, 2021
TBX111Dec 26, 2023
TBX191May 12, 2022
TBX22Nov 14, 2023
TBX205May 17, 2023
TBX221Jun 17, 2021
TBX31Apr 29, 2020
TBX510Jan 26, 2024
TBXA2R4Jan 26, 2024
TBXAS19Feb 19, 2024
TCAP16Dec 26, 2023
TCEAL12Jan 26, 2024
TCF122Jul 15, 2022
TCF2017Feb 19, 2024
TCF31Jul 25, 2023
TCF45Feb 19, 2024
TCHH1May 17, 2023
TCIRG111Jan 26, 2024
TCOF14Feb 19, 2024
TCTN18Oct 2, 2023
TCTN212Feb 19, 2024
TCTN37Feb 19, 2024
TECPR211Oct 2, 2023
TECR1Jan 26, 2024
TECRL2Jan 26, 2024
TECTA3Dec 26, 2023
TEK1Oct 13, 2022
TELO22Jan 26, 2024
TENM43Dec 26, 2023
TENT5A1Nov 14, 2023
TERT2Dec 26, 2023
TET32Oct 2, 2023
TEX121Jan 11, 2023
TF3Jan 26, 2024
TFAP2A2Dec 26, 2023
TFAP2A-AS21Dec 26, 2023
TFAP2B2Oct 2, 2023
TFG1Dec 26, 2023
TFR23Oct 2, 2023
TG11Feb 19, 2024
TGDS2Jan 11, 2023
TGFB231Feb 19, 2024
TGFB323Apr 3, 2024
TGFBR146Feb 19, 2024
TGFBR255Jan 26, 2024
TGM130Feb 19, 2024
TGM68Jan 26, 2024
TH25Feb 19, 2024
TH2-LCR10Feb 19, 2024
TH2LCRR18Feb 19, 2024
THBD2Jan 26, 2024
THOC22Feb 19, 2024
THPO1Jan 26, 2024
THRB26Feb 19, 2024
THSD11Dec 14, 2022
THUMPD11Dec 26, 2023
TIGD11Feb 9, 2022
TIMELESS1Feb 19, 2024
TIMMDC15Apr 14, 2023
TINF21Jul 25, 2023
TK214Jan 26, 2024
TKT1Feb 19, 2024
TLDC21Jan 11, 2023
TLK22Jul 25, 2023
TLL11Dec 31, 2020
TM4SF202Oct 2, 2023
TMC13Feb 19, 2024
TMCO11Nov 14, 2023
TMEM1074Feb 19, 2024
TMEM126B3Feb 19, 2024
TMEM1278Feb 19, 2024
TMEM1383Apr 14, 2023
TMEM2168Jan 26, 2024
TMEM23114Feb 19, 2024
TMEM2379Jun 21, 2023
TMEM2401Sep 14, 2022
TMEM38B11Oct 27, 2023
TMEM4358Feb 19, 2024
TMEM50B1Aug 18, 2011
TMEM541Jan 26, 2024
TMEM63A3Feb 19, 2024
TMEM6732Jan 26, 2024
TMEM704Apr 14, 2023
TMLHE3Dec 26, 2023
TMPO34Jan 26, 2024
TMPO-AS16May 17, 2023
TMPPE3Mar 16, 2023
TMPRSS310Jan 26, 2024
TMTC31Sep 14, 2022
TMX21Oct 27, 2023
TMX2-CTNND12Oct 27, 2023
TNC8Feb 19, 2024
TNFAIP8L21Jan 26, 2024
TNFAIP8L2-SCNM11Jan 26, 2024
TNFRSF13B18Jun 21, 2023
TNFRSF1A2Jul 25, 2023
TNFSF113Jul 15, 2022
TNIK1Mar 16, 2023
TNNC112Jan 26, 2024
TNNI328Dec 26, 2023
TNNT11Aug 18, 2011
TNNT234Feb 19, 2024
TNNT31Oct 2, 2023
TNPO21May 17, 2023
TNPO35Jan 26, 2024
TNR1Apr 14, 2023
TNRC6B6Feb 19, 2024
TNXB20Feb 19, 2024
TOE18Dec 26, 2023
TOP2B4Oct 2, 2023
TOP3A1Feb 19, 2024
TOPORS1Oct 6, 2020
TOR1AIP12Aug 30, 2022
TP53138Apr 3, 2024
TP632Dec 26, 2023
TPM119Jan 26, 2024
TPM22Jul 25, 2023
TPO17Nov 14, 2023
TPP143Dec 26, 2023
TPRKB1Aug 25, 2023
TPRN1Jul 15, 2022
TRAF73Nov 14, 2023
TRAK11Oct 2, 2023
TRAPPC1110Jan 26, 2024
TRAPPC122Sep 14, 2022
TRAPPC12-AS11Sep 14, 2022
TRAPPC2L1Oct 2, 2023
TRAPPC93Feb 19, 2024
TRB72Feb 19, 2024
TRDN25Feb 19, 2024
TREM22Jul 25, 2023
TREX111Oct 27, 2023
TRIM141Jan 26, 2024
TRIM327May 17, 2023
TRIM59-IFT801Dec 31, 2020
TRIM6322Feb 19, 2024
TRIO19Feb 19, 2024
TRIOBP6Dec 26, 2023
TRIP111Nov 14, 2023
TRIP1211Feb 19, 2024
TRIP42Oct 2, 2023
TRMT13Feb 19, 2024
TRMT10C1Oct 2, 2023
TRMT52Jan 11, 2023
TRMU17Feb 19, 2024
TRNT14Oct 2, 2023
TROAP-AS11Nov 14, 2023
TRPC32Feb 19, 2024
TRPM11Nov 10, 2022
TRPM32Dec 26, 2023
TRPM427Feb 19, 2024
TRPM77Feb 19, 2024
TRPS12Dec 14, 2022
TRPV43Dec 26, 2023
TRRAP7Dec 26, 2023
TSC147Feb 19, 2024
TSC294Feb 19, 2024
TSEN212Dec 26, 2023
TSEN342Feb 6, 2023
TSEN5414Apr 3, 2024
TSFM3Mar 16, 2023
TSHR14Feb 19, 2024
TSPAN112Dec 26, 2023
TSPAN3122Apr 3, 2024
TSPAN71Nov 14, 2023
TSPEAR2Dec 14, 2022
TTBK23Dec 26, 2023
TTC191Oct 2, 2023
TTC36-AS11May 12, 2022
TTC7A15May 17, 2023
TTC85Jan 26, 2024
TTN1884Apr 3, 2024
TTN-AS11059Apr 3, 2024
TTPA20Feb 19, 2024
TTR46Feb 19, 2024
TUBA1A5Apr 3, 2024
TUBA4A1Jul 25, 2023
TUBA81Dec 26, 2023
TUBB14Feb 19, 2024
TUBB2A1Feb 19, 2024
TUBB36Feb 19, 2024
TUBB4A4Oct 27, 2023
TUBB62Oct 27, 2023
TUBGCP23Nov 14, 2023
TUFM1Nov 14, 2023
TULP110Feb 19, 2024
TUSC32Dec 26, 2023
TWIST13Dec 26, 2023
TWNK13Feb 19, 2024
TXN22Oct 27, 2023
TXNL4A1Nov 10, 2022
TYMP10Jan 26, 2024
TYR18Feb 19, 2024
TYROBP1Oct 13, 2022
TYRP13Oct 2, 2023
UBA51Aug 25, 2023
UBE3A2Jan 26, 2024
UBE3B1Nov 14, 2023
UBR12Sep 14, 2022
UBTF2Nov 14, 2023
UCHL11Nov 14, 2023
UCP22Jan 26, 2024
UGT1A6Feb 19, 2024
UGT1A16Feb 19, 2024
UGT1A106Feb 19, 2024
UGT1A36Feb 19, 2024
UGT1A46Feb 19, 2024
UGT1A56Feb 19, 2024
UGT1A66Feb 19, 2024
UGT1A76Feb 19, 2024
UGT1A86Feb 19, 2024
UGT1A96Feb 19, 2024
UMPS1May 19, 2021
UNC13D35Feb 19, 2024
UNC809Feb 19, 2024
UNG4Sep 14, 2022
UPB13Oct 27, 2023
UPF3B1May 12, 2022
UQCRC21Jun 21, 2023
UQCRFS11Dec 26, 2023
UROC13Nov 14, 2023
UROD2Feb 19, 2024
UROS1Jul 25, 2023
USH1C10Feb 19, 2024
USH1G9Apr 3, 2024
USH2A239Feb 19, 2024
USH2A-AS116Nov 14, 2023
USH2A-AS213Feb 19, 2024
USP182Jan 26, 2024
USP27X1Feb 19, 2024
USP72Aug 25, 2023
USP9X6Nov 14, 2023
VAC141May 17, 2023
VARS13Nov 14, 2023
VARS29Feb 19, 2024
VCAN2May 17, 2023
VCAN-AS11May 17, 2023
VCL46Feb 19, 2024
VCP2Mar 16, 2023
VDR3Jan 26, 2024
VHL98Feb 19, 2024
VIPAS396Feb 19, 2024
VLDLR5Feb 19, 2024
VMA212Jan 26, 2024
VPS13A5Nov 14, 2023
VPS13B77Feb 19, 2024
VPS13C8Jan 26, 2024
VPS162Nov 14, 2023
VPS33A1Feb 19, 2024
VPS33B5Feb 19, 2024
VPS37A2Dec 26, 2023
VPS451Jan 26, 2024
VPS4A1Nov 14, 2023
VPS501Jun 21, 2023
VPS5316Aug 25, 2023
VRK15Jan 26, 2024
VRK26Jan 26, 2024
VSX21Oct 2, 2023
VWA11Jan 11, 2023
VWA3B3Nov 14, 2023
VWF134Apr 3, 2024
WAC6Nov 14, 2023
WARS23Oct 27, 2023
WARS2-AS11Jun 21, 2023
WAS34Feb 19, 2024
WASF13Jul 25, 2023
WASHC45Feb 19, 2024
WASHC55Feb 19, 2024
WASHC5-AS11Nov 14, 2023
WDFY35May 17, 2023
WDPCP1Apr 29, 2020
WDR11Apr 14, 2023
WDR112Nov 14, 2023
WDR191Dec 21, 2021
WDR266Dec 26, 2023
WDR351Dec 14, 2022
WDR41Mar 11, 2022
WDR451Mar 6, 2020
WDR625Nov 14, 2023
WDR731Jul 29, 2022
WDR812Jul 25, 2023
WFS112Feb 19, 2024
WHRN9Feb 19, 2024
WNK16Feb 19, 2024
WNK31Dec 26, 2023
WNK43Jan 26, 2024
WNT14Oct 2, 2023
WNT10A5Nov 14, 2023
WNT5A2Apr 14, 2023
WNT7A1Dec 26, 2023
WRN17Feb 19, 2024
WT113Dec 26, 2023
WWOX6Feb 19, 2024
XDH2Jan 26, 2024
XIAP1Feb 6, 2023
XPA18Oct 2, 2023
XPC38Feb 19, 2024
XPR13Dec 26, 2023
XRCC41Dec 14, 2022
YAP11Nov 14, 2023
YARS21Nov 14, 2023
YTHDF31Jun 21, 2023
YWHAG1Jul 25, 2023
YY11Oct 27, 2023
ZAP7013Jan 26, 2024
ZBTB112Jun 21, 2023
ZBTB11-AS11Jun 21, 2023
ZBTB201Nov 14, 2023
ZBTB247Apr 14, 2023
ZBTB253Jan 11, 2023
ZBTB7A1Jan 26, 2024
ZC3H141Nov 14, 2023
ZC4H22Nov 14, 2023
ZDHHC2422Jan 26, 2024
ZDHHC91Mar 6, 2020
ZEB25Nov 14, 2023
ZFPM11Oct 6, 2020
ZFPM212Nov 14, 2023
ZFPM2-AS111Nov 14, 2023
ZFYVE2613Jan 26, 2024
ZFYVE273Nov 14, 2023
ZGRF11Oct 27, 2023
ZIC13Oct 27, 2023
ZIC21Apr 14, 2023
ZMIZ14May 17, 2023
ZMYM24Nov 14, 2023
ZMYND112Oct 2, 2023
ZNF1424May 17, 2023
ZNF1481Mar 16, 2023
ZNF27614Feb 19, 2024
ZNF29211Feb 19, 2024
ZNF4073Dec 26, 2023
ZNF4231Jan 26, 2024
ZNF4627Jan 26, 2024
ZNF46950Jan 26, 2024
ZNF6271Dec 14, 2022
ZNF6871Feb 19, 2024
ZNF6991Apr 14, 2023
ZNF7114Aug 25, 2023
ZNHIT32Oct 27, 2023
ZSWIM65Feb 19, 2024

Condition

NameSubmissionsLast Updated
2-aminoadipic 2-oxoadipic aciduria5Nov 14, 2023
3-M syndrome8Feb 19, 2024
3-Methylglutaconic aciduria type 23Aug 30, 2022
3-Methylglutaconic aciduria type 31Nov 10, 2022
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency3Oct 27, 2023
3-methylglutaconic aciduria type 11Jul 25, 2023
3-methylglutaconic aciduria, type VIIB1Nov 14, 2023
3M syndrome 24Jan 11, 2023
3M syndrome 35May 17, 2023
3MC syndrome 11Nov 10, 2022
3MC syndrome 21Nov 14, 2023
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency19Jan 26, 2024
8q24.3 microdeletion syndrome1Nov 16, 2021
AARS2-Related Disorders3Oct 2, 2023
ACAN-Related Disorders1Feb 6, 2023
ACE-Related Disorders1Nov 10, 2022
ACTG1-Related Disorders1Feb 6, 2023
ACVRL1-Related Disorders1Jun 21, 2023
ADGRV1-Related Disorders2Aug 25, 2023
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2Feb 19, 2024
AGK-Related Disorders1Jan 26, 2024
ALDH18A1-Related Disorders1May 17, 2023
ALG1-congenital disorder of glycosylation9Nov 14, 2023
ALG12-congenital disorder of glycosylation3Apr 3, 2024
ALG6-congenital disorder of glycosylation 1C4Oct 2, 2023
ATP1A3-Related Disorders1Nov 10, 2022
ATP1A3-associated neurological disorder1Feb 6, 2023
Abetalipoproteinaemia13Jun 21, 2023
Acetazolamide-responsive myotonia2Oct 27, 2023
Achondrogenesis type II10Feb 19, 2024
Achondroplasia3Feb 19, 2024
Achromatopsia 25Dec 26, 2023
Achromatopsia 34Jan 26, 2024
Acrocallosal syndrome1Nov 10, 2022
Action myoclonus-renal failure syndrome1Nov 14, 2023
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins37Apr 3, 2024
Acute intermittent porphyria1Oct 27, 2023
Adams-Oliver syndrome 22Mar 16, 2023
Adams-Oliver syndrome 51Oct 13, 2022
Adenylosuccinate lyase deficiency3Oct 2, 2023
Adrenoleukodystrophy24Jan 26, 2024
Agammaglobulinemia 8, autosomal dominant1Jul 25, 2023
Age related macular degeneration 71Aug 30, 2022
Agenesis of the corpus callosum with peripheral neuropathy6May 17, 2023
Aicardi Goutieres syndrome16Apr 3, 2024
Aicardi-Goutieres syndrome 14Jun 21, 2023
Aicardi-Goutieres syndrome 61Aug 25, 2023
Al-Raqad syndrome2Mar 16, 2023
Alexander disease3Nov 14, 2023
Alkaline ceramidase 3 deficiency1Mar 6, 2020
Alkuraya-Kucinskas syndrome3Feb 19, 2024
Allan-Herndon-Dudley syndrome2Apr 3, 2024
Alpha thalassemia-X-linked intellectual disability syndrome6Feb 6, 2023
Alpha-1-antitrypsin deficiency3Mar 16, 2023
Alpha-N-acetylgalactosaminidase deficiency type 21Jul 1, 2020
Alstrom syndrome31Apr 3, 2024
Alternating hemiplegia of childhood 11Dec 14, 2022
Alzahrani-Kuwahara syndrome2Nov 14, 2023
Alzheimer disease2Feb 19, 2024
Alzheimer disease 37Oct 27, 2023
Alzheimer disease 41Apr 3, 2024
Amelocerebrohypohidrotic syndrome1Dec 14, 2022
Aminoacylase 1 deficiency1Dec 26, 2023
Amyloid Cardiomyopathy, Transthyretin-related1Aug 18, 2011
Amyotrophic lateral sclerosis type 11Dec 26, 2023
Amyotrophic lateral sclerosis type 41Sep 14, 2022
Amyotrophic lateral sclerosis type 91Sep 14, 2022
Androgen resistance syndrome2Jun 21, 2023
Anemia, nonspherocytic hemolytic, due to G6PD deficiency2Apr 27, 2021
Anhidrotic ectodermal dysplasia4Dec 26, 2023
Apparent mineralocorticoid excess1Aug 18, 2011
Arginase deficiency4Oct 2, 2023
Arginine:glycine amidinotransferase deficiency1Nov 16, 2021
Argininosuccinate lyase deficiency34Oct 2, 2023
Aromatase deficiency1May 17, 2023
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma1Nov 16, 2021
Arrhythmogenic right ventricular cardiomyopathy7Sep 24, 2019
Arterial tortuosity syndrome4Dec 26, 2023
Arthrogryposis, distal, type 2B21Oct 2, 2023
Aspartylglucosaminuria10Aug 25, 2023
Asphyxiating thoracic dystrophy 21Dec 31, 2020
Asphyxiating thoracic dystrophy 34Jan 26, 2024
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome5Feb 19, 2024
Ataxia-telangiectasia syndrome182Feb 19, 2024
Ataxia-telangiectasia-like disorder2Apr 3, 2024
Atrial septal defect1Nov 20, 2015
Atrial septal defect 73Apr 11, 2018
Atypical glycine encephalopathy2Oct 2, 2023
Autism spectrum disorder - epilepsy - arthrogryposis syndrome3Sep 14, 2022
Autism spectrum disorder due to AUTS2 deficiency1Sep 14, 2022
Autism, susceptibility to, 171Dec 14, 2022
Autism, susceptibility to, 51Jul 7, 2021
Autosomal dominant Parkinson disease 82Nov 14, 2023
Autosomal dominant epilepsy17Feb 19, 2024
Autosomal dominant hypocalcemia3Apr 3, 2024
Autosomal dominant hypophosphatemic rickets2Aug 18, 2011
Autosomal dominant isolated somatotropin deficiency1Aug 18, 2011
Autosomal dominant nocturnal frontal lobe epilepsy 31Jun 21, 2023
Autosomal recessive Alport syndrome39Feb 19, 2024
Autosomal recessive DOPA responsive dystonia13Feb 19, 2024
Autosomal recessive ataxia due to ubiquinone deficiency2Nov 14, 2023
Autosomal recessive axonal neuropathy with neuromyotonia1Jun 21, 2023
Autosomal recessive distal renal tubular acidosis4Feb 19, 2024
Autosomal recessive distal spinal muscular atrophy 11Apr 3, 2024
Autosomal recessive hypophosphatemic bone disease1Jan 11, 2023
Autosomal recessive inherited pseudoxanthoma elasticum1Apr 19, 2022
Autosomal recessive juvenile Parkinson disease 23Jan 26, 2024
Autosomal recessive limb-girdle muscular dystrophy135Apr 3, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2J11Apr 3, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2X1Nov 10, 2022
Autosomal recessive non-syndromic intellectual disability2Oct 2, 2023
Autosomal recessive nonsyndromic hearing loss 18B1Apr 14, 2023
Autosomal recessive nonsyndromic hearing loss 1A54Feb 19, 2024
Autosomal recessive nonsyndromic hearing loss 222Nov 14, 2023
Autosomal recessive nonsyndromic hearing loss 251Dec 2, 2020
Autosomal recessive nonsyndromic hearing loss 291Jul 29, 2022
Autosomal recessive nonsyndromic hearing loss 36Feb 19, 2024
Autosomal recessive nonsyndromic hearing loss 791Jul 15, 2022
Autosomal recessive nonsyndromic hearing loss 85Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 84A1Apr 14, 2023
Autosomal recessive nonsyndromic hearing loss 91Oct 6, 2020
Autosomal recessive polycystic kidney disease107Feb 19, 2024
Autosomal recessive primary microcephaly21Apr 3, 2024
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1Aug 25, 2023
Autosomal recessive spastic paraplegia type 761Jan 26, 2024
Autosomal recessive spinocerebellar ataxia 102Feb 19, 2024
Autosomal recessive spinocerebellar ataxia 171Feb 6, 2023
Autosomal recessive spinocerebellar ataxia 182Nov 10, 2022
Autosomal recessive spinocerebellar ataxia 201Oct 27, 2023
Autosomal recessive titinopathy1Jun 21, 2023
Axenfeld-Rieger syndrome type 11Feb 9, 2022
BRSK2-Related Disorders1Jan 26, 2024
Bailey-Bloch congenital myopathy1Sep 14, 2022
Baller-Gerold syndrome3Sep 1, 2021
Baraitser-Winter syndrome 11Jul 29, 2022
Bardet-Biedl syndrome105Feb 19, 2024
Bardet-Biedl syndrome 104Mar 6, 2020
Bardet-Biedl syndrome 191Dec 26, 2023
Bardet-Biedl syndrome 23Apr 24, 2019
Bartter syndrome17Apr 3, 2024
Bernard Soulier syndrome6Apr 3, 2024
Bernard-Soulier syndrome, type A2, autosomal dominant1Jul 25, 2023
Beta thalassemia intermedia11Oct 2, 2023
Beta-D-mannosidosis14Oct 2, 2023
Beta-hydroxyisobutyryl-CoA deacylase deficiency1Dec 26, 2023
Beta-thalassemia HBB/LCRB1Feb 19, 2024
Beta-thalassemia major6Apr 19, 2022
Bethlem myopathy 21Nov 14, 2023
Bifunctional peroxisomal enzyme deficiency16Jul 25, 2023
Bilateral frontoparietal polymicrogyria2Oct 2, 2023
Biotin-responsive basal ganglia disease1Apr 14, 2023
Biotinidase deficiency28Jan 26, 2024
Birt-Hogg-Dube syndrome10Apr 3, 2024
Bloom syndrome37Nov 14, 2023
Bohring-Opitz syndrome7Apr 3, 2024
Bosch-Boonstra-Schaaf optic atrophy syndrome1Mar 6, 2020
Brachydactyly type B11Oct 27, 2023
Brachydactyly type E21Aug 5, 2021
Brain abnormalities, neurodegeneration, and dysosteosclerosis1Apr 3, 2024
Brain small vessel disease 1 with or without ocular anomalies4Jan 26, 2024
Branchiootic syndrome 31Aug 30, 2022
Brittle cornea syndrome 111May 17, 2023
Brittle cornea syndrome 25Apr 14, 2023
Brown-Vialetto-van Laere syndrome 11Feb 6, 2023
Brown-Vialetto-van Laere syndrome 22Jul 25, 2023
Brugada syndrome (shorter-than-normal QT interval)11Jan 26, 2024
Bryant-Li-Bhoj neurodevelopmental syndrome 21Dec 26, 2023
C1orf69-Related Disorders1Feb 6, 2023
C1orf69/IBA57-Related Disorders1Oct 13, 2022
C2-related disorders1Oct 27, 2023
C3 deficiency1Jun 21, 2023
CCDC88C-Related Disorders1Apr 14, 2023
CD36-Related Disorders3Oct 2, 2023
CEP152-Related Disorders2Aug 25, 2023
CEP290-Related Disorders27Jan 26, 2024
CFH-Related Disorders1May 12, 2022
CHARGE association4Jan 26, 2024
CHD8-Related Disorders2Oct 2, 2023
CHIME syndrome1Oct 13, 2022
CLCN2-Related Disorders3Jul 25, 2023
CODAS syndrome1Feb 6, 2023
COG5-congenital disorder of glycosylation2Dec 26, 2023
COG6-ongenital disorder of glycosylation1Feb 9, 2022
COG8-congenital disorder of glycosylation1Mar 11, 2022
COL11A2-Related Disorders2Apr 3, 2024
COL7A1-related disorders15Apr 3, 2024
COL9A1-Related Disorders2Sep 14, 2022
CUL3-Related Disorders1Oct 13, 2022
Canavan Disease, Familial Form27Oct 27, 2023
Capillary malformation-arteriovenous malformation 21Dec 26, 2023
Cardiac anomalies - developmental delay - facial dysmorphism syndrome2Jul 15, 2022
Cardiac arrhythmia70Feb 19, 2024
Cardiac valvular defect, developmental1Dec 31, 2020
Cardio-facio-cutaneous syndrome18May 17, 2023
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 11Jun 21, 2023
Cardiomyopathy140Apr 3, 2024
Cardiomyopathy, dilated, 2D1Jul 25, 2023
Cardiovascular phenotype30Apr 24, 2019
Carney complex1Dec 2, 2020
Carnitine acylcarnitine translocase deficiency17Feb 19, 2024
Carnitine palmitoyl transferase 1A deficiency3Apr 14, 2023
Carnitine palmitoyltransferase II deficiency20Apr 3, 2024
Carpenter syndrome6Jan 26, 2024
Catecholaminergic polymorphic ventricular tachycardia2Apr 27, 2021
Catecholaminergic polymorphic ventricular tachycardia 12Oct 2, 2023
Catel-Manzke syndrome2Jan 11, 2023
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 12Feb 19, 2024
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 22Jul 25, 2023
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41Dec 14, 2022
Cerebellar atrophy, visual impairment, and psychomotor retardation;1Mar 11, 2022
Cerebral amyloid angiopathy, APP-related2Apr 3, 2024
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1Jan 6, 2022
Cerebral cavernous malformation 22Dec 26, 2023
Cerebro facio thoracic dysplasia1Nov 14, 2023
Cerebrooculofacioskeletal syndrome 12Aug 25, 2023
Cerebrooculofacioskeletal syndrome 32Nov 10, 2022
Cerebroretinal microangiopathy with calcifications and cysts 19Feb 19, 2024
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1Oct 27, 2023
Charcot-Marie-Tooth disease X-linked dominant 11Dec 26, 2023
Charcot-Marie-Tooth disease axonal type 2CC1Jan 11, 2023
Charcot-Marie-Tooth disease axonal type 2S5Nov 14, 2023
Charcot-Marie-Tooth disease axonal type 2T5Feb 19, 2024
Charcot-Marie-Tooth disease type 41Apr 24, 2019
Charcot-Marie-Tooth disease type 4A5Oct 27, 2023
Charcot-Marie-Tooth disease type 4B11Nov 14, 2023
Charcot-Marie-Tooth disease type 4B21Dec 26, 2023
Charcot-Marie-Tooth disease type 4C2Oct 27, 2023
Charcot-Marie-Tooth disease type 4J3Aug 25, 2023
Charlevoix-Saguenay spastic ataxia41Dec 26, 2023
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency1Apr 3, 2024
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1Nov 10, 2022
Cholestanol storage disease15Apr 3, 2024
Chorea-acanthocytosis1Jul 25, 2023
Chronic granulomatous disease14Feb 19, 2024
Chuvash polycythemia3Apr 3, 2024
Ciliary dyskinesia, primary, 401Oct 13, 2022
Citrullinemia18Feb 19, 2024
Citrullinemia type I15May 13, 2020
Citrullinemia type II12Oct 27, 2023
Clark-Baraitser syndrome1Feb 19, 2024
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency4Apr 14, 2023
Classic lissencephaly1Dec 26, 2023
Cleidocranial dysostosis1Mar 6, 2020
Cobalamin C disease54Apr 3, 2024
Cockayne syndrome25Feb 19, 2024
Coenzyme Q10 deficiency, primary, 12Nov 10, 2022
Coffin-Lowry syndrome2Jul 29, 2022
Coffin-Siris syndrome2May 17, 2023
Coffin-Siris syndrome 121Jan 26, 2024
Coffin-Siris syndrome 82Feb 6, 2023
Cohen syndrome42Jan 26, 2024
Cold-induced sweating syndrome4Feb 19, 2024
Collagen 6-related myopathy2Jul 15, 2022
Colorectal cancer1Apr 3, 2024
Colorectal carcinoma1Nov 10, 2022
Combined deficiency of sialidase AND beta galactosidase8Oct 2, 2023
Combined immunodeficiency due to DOCK8 deficiency2Feb 19, 2024
Combined immunodeficiency with skin granulomas1Nov 20, 2015
Combined malonic and methylmalonic acidemia11Apr 3, 2024
Combined molybdoflavoprotein enzyme deficiency1Feb 19, 2024
Combined oxidative phosphorylation defect type 111Jul 29, 2022
Combined oxidative phosphorylation defect type 172Aug 25, 2023
Combined oxidative phosphorylation defect type 206Jan 26, 2024
Combined oxidative phosphorylation defect type 242Dec 26, 2023
Combined oxidative phosphorylation defect type 262Jan 11, 2023
Combined oxidative phosphorylation defect type 72Jan 11, 2023
Combined oxidative phosphorylation deficiency 281Nov 14, 2023
Combined oxidative phosphorylation deficiency 322Oct 27, 2023
Combined oxidative phosphorylation deficiency 361Feb 6, 2023
Combined oxidative phosphorylation deficiency 401Oct 27, 2023
Combined oxidative phosphorylation deficiency 442Jun 21, 2023
Combined pituitary hormone deficiencies, genetic form8Dec 26, 2023
Common variable immunodeficiency4Mar 11, 2022
Complex cortical dysplasia with other brain malformations 12Jan 11, 2023
Complex cortical dysplasia with other brain malformations 21Jul 25, 2023
Congenital adrenal hyperplasia80Apr 3, 2024
Congenital adrenal hypoplasia, X-linked3Apr 27, 2021
Congenital afibrinogenemia1Jan 26, 2024
Congenital amegakaryocytic thrombocytopenia18Jan 26, 2024
Congenital bilateral aplasia of vas deferens from CFTR mutation12Apr 3, 2024
Congenital bile acid synthesis defect 21Nov 14, 2023
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome1Feb 19, 2024
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1Dec 26, 2023
Congenital contractures of the limbs and face, hypotonia, and developmental delay2Jan 26, 2024
Congenital defect of folate absorption1Feb 19, 2024
Congenital disorder of deglycosylation8Feb 19, 2024
Congenital disorder of glycosylation type 1E1May 17, 2023
Congenital disorder of glycosylation with defective fucosylation1May 12, 2022
Congenital dyserythropoietic anemia, type II3Dec 26, 2023
Congenital factor VII deficiency5Dec 26, 2023
Congenital generalized lipodystrophy2Feb 19, 2024
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder2Feb 19, 2024
Congenital heart defects, multiple types, 22Oct 27, 2023
Congenital heart disease2Nov 20, 2015
Congenital heart disease (variable)3Mar 6, 2020
Congenital hyperammonemia, type I30Jan 26, 2024
Congenital isolated adrenocorticotropic hormone deficiency1May 12, 2022
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type7May 17, 2023
Congenital lipoid adrenal hyperplasia due to STAR deficency9Feb 19, 2024
Congenital long QT syndrome2Mar 6, 2020
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome11Oct 27, 2023
Congenital multicore myopathy with external ophthalmoplegia2Feb 6, 2023
Congenital muscular dystrophy due to LMNA mutation1Nov 20, 2015
Congenital muscular hypertrophy-cerebral syndrome1May 17, 2023
Congenital myasthenic syndrome43Jan 26, 2024
Congenital myasthenic syndrome 2C1Nov 10, 2022
Congenital myopathy 231May 12, 2022
Congenital myopathy 2c, severe infantile, autosomal dominant1May 17, 2023
Congenital myopathy with fiber type disproportion1Aug 5, 2021
Congenital myotonia, autosomal recessive form15Jan 26, 2024
Congenital nonprogressive myopathy with Moebius and Robin sequences2Jan 26, 2024
Congenital secretory diarrhea, chloride type2Apr 3, 2024
Corneal dystrophy-perceptive deafness syndrome9Oct 27, 2023
Cornelia de Lange syndrome 11Apr 3, 2024
Cornelia de Lange syndrome 53Jan 26, 2024
Cortical dysplasia, complex, with other brain malformations 92Nov 14, 2023
Cortical dysplasia-focal epilepsy syndrome4Apr 14, 2023
Costello syndrome7Oct 2, 2023
Cowden syndrome17Feb 19, 2024
Cranioectodermal dysplasia 11Oct 27, 2023
Craniofrontonasal syndrome1May 13, 2020
Creatine transporter deficiency7Nov 14, 2023
Crigler-Najjar syndrome1Oct 27, 2023
Cutaneous porphyria1Jul 25, 2023
Cutis laxa10Apr 3, 2024
Cutis laxa, autosomal recessive, type 1B3Apr 14, 2023
Cystic fibrosis412Apr 3, 2024
Cystic fibrosis-gastritis-megaloblastic anemia syndrome1May 19, 2021
Cystinosis28Apr 3, 2024
Cystinuria2Apr 3, 2024
D-2-hydroxyglutaric aciduria 11Dec 2, 2020
D-Glyceric aciduria2Jan 11, 2023
DGUOK-Related Disorders4Feb 19, 2024
DNA ligase IV deficiency4Nov 14, 2023
DNAJC6-Related Disorders1Jan 26, 2024
DPAGT1-congenital disorder of glycosylation2Mar 16, 2023
DST-Related Disorders1Apr 3, 2024
DYNC1H1-related disorders1Jun 21, 2023
DYRK1A-related intellectual disability syndrome1Apr 27, 2021
Danon disease1Jul 29, 2022
DeSanto-Shinawi syndrome due to WAC point mutation2Nov 14, 2023
Deafness with labyrinthine aplasia, microtia, and microdontia1Apr 19, 2022
Deficiency of 2-methylbutyryl-CoA dehydrogenase7Apr 3, 2024
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase68Jan 26, 2024
Deficiency of acetyl-CoA acetyltransferase20Aug 25, 2023
Deficiency of alpha-mannosidase25Jul 25, 2023
Deficiency of aromatic-L-amino-acid decarboxylase6Jan 26, 2024
Deficiency of beta-ureidopropionase3Oct 27, 2023
Deficiency of butyryl-CoA dehydrogenase8Apr 3, 2024
Deficiency of butyrylcholinesterase15Apr 3, 2024
Deficiency of cytochrome-b5 reductase1Oct 2, 2023
Deficiency of galactokinase5Jul 25, 2023
Deficiency of guanidinoacetate methyltransferase13May 17, 2023
Deficiency of hyaluronoglucosaminidase1Mar 16, 2023
Deficiency of hydroxymethylglutaryl-CoA lyase13Aug 25, 2023
Deficiency of iodide peroxidase7Nov 14, 2023
Deficiency of ribose-5-phosphate isomerase4Feb 19, 2024
Deficiency of steroid 17-alpha-monooxygenase3Aug 25, 2023
Dent disease3Nov 14, 2023
Desbuquois dysplasia 11Feb 19, 2024
Developmental and epileptic encephalopathy 891Apr 14, 2023
Developmental and epileptic encephalopathy 942Nov 10, 2022
Developmental and epileptic encephalopathy, 11Jan 26, 2024
Developmental and epileptic encephalopathy, 132Feb 19, 2024
Developmental and epileptic encephalopathy, 251Aug 25, 2023
Developmental and epileptic encephalopathy, 291Dec 26, 2023
Developmental and epileptic encephalopathy, 371Apr 3, 2024
Developmental and epileptic encephalopathy, 42Jul 25, 2023
Developmental and epileptic encephalopathy, 428Jan 26, 2024
Developmental and epileptic encephalopathy, 481Aug 25, 2023
Developmental and epileptic encephalopathy, 491Jan 11, 2023
Developmental and epileptic encephalopathy, 511Nov 14, 2023
Developmental and epileptic encephalopathy, 541Aug 25, 2023
Developmental and epileptic encephalopathy, 701Apr 3, 2024
Developmental and epileptic encephalopathy, 771Apr 14, 2023
Developmental and epileptic encephalopathy, 91Feb 19, 2024
Developmental delay and seizures with or without movement abnormalities1May 12, 2022
Developmental delay with autism spectrum disorder and gait instability2Jan 26, 2024
Developmental delay with short stature, dysmorphic facial features, and sparse hair 11Dec 26, 2023
Developmental delay with variable intellectual impairment and behavioral abnormalities2Oct 13, 2022
Developmental delay with variable neurologic and brain abnormalities1Oct 27, 2023
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders1Feb 19, 2024
Developmental delay, impaired speech, and behavioral abnormalities1Oct 2, 2023
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures1Jun 21, 2023
Dias-Logan syndrome1Oct 22, 2021
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1Apr 3, 2024
Dihydropteridine reductase deficiency7Jul 25, 2023
Dihydropyrimidine dehydrogenase deficiency29Dec 26, 2023
Dominant beta-thalassemia5Aug 25, 2023
Donnai-Barrow syndrome2Oct 13, 2022
Dopa-responsive dystonia due to sepiapterin reductase deficiency1Mar 6, 2020
Dyskeratosis congenita10Aug 25, 2023
EEF1A2-related disorders1Feb 26, 2021
ELOVL4-Related Disorders3Apr 3, 2024
ENG-Related Disorders2Oct 27, 2023
ENPP1-Related Disorders1Oct 27, 2023
ERF-Related Disorders2Jul 25, 2023
Early Infantile Epileptic Encephalopathy, Autosomal Recessive2Jul 25, 2023
Early infantile epileptic encephalopathy with suppression bursts1Nov 10, 2022
Early-onset coronary artery disease6Jun 21, 2023
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome3Mar 16, 2023
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome1Apr 3, 2024
Ectodermal dysplasia and immunodeficiency 16Jan 25, 2018
Ehlers-Danlos syndrome10Feb 19, 2024
Ehlers-Danlos syndrome due to tenascin-X deficiency2Jan 26, 2024
Ehlers-Danlos syndrome, dermatosparaxis type3Dec 14, 2022
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type2Oct 27, 2023
Ehlers-Danlos syndrome, kyphoscoliotic type 11Jun 21, 2023
Ehlers-Danlos syndrome, musculocontractural type2Oct 22, 2021
Ehlers-Danlos syndrome, spondylodysplastic type, 11Dec 26, 2023
Ehlers-Danlos syndrome, type 49Jun 21, 2023
Eichsfeld type congenital muscular dystrophy14Jan 26, 2024
Elliptocytosis 21Apr 19, 2022
Ellis-van Creveld syndrome7Feb 19, 2024
Emery-Dreifuss muscular dystrophy3Aug 5, 2021
Emery-Dreifuss muscular dystrophy 1, X-linked1Oct 27, 2023
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1Oct 13, 2022
Emery-Dreifuss muscular dystrophy 4, autosomal dominant6Oct 2, 2023
Encephalopathy due to GLUT1 deficiency2Dec 26, 2023
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11Oct 27, 2023
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 11Jun 21, 2023
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome2Nov 14, 2023
Epidermolysis bullosa dystrophica4Oct 2, 2023
Epilepsy, familial focal, with variable foci 12Nov 14, 2023
Epilepsy, familial focal, with variable foci 21Apr 3, 2024
Epilepsy, familial focal, with variable foci 32Apr 14, 2023
Epilepsy, progressive myoclonic, 1B1Dec 26, 2023
Epiphyseal dysplasia, multiple, 21Jan 26, 2024
Episodic ataxia type 11Jul 29, 2022
Episodic kinesigenic dyskinesia 13Dec 26, 2023
Ethylmalonic encephalopathy11Apr 14, 2023
FAM38B-Related Disorders1Jan 26, 2024
FARS2-Related Disorders3Feb 19, 2024
FGD1-Related Disorders1Dec 26, 2023
FGFR1-Related Disorders2Nov 14, 2023
Fabry disease148Apr 3, 2024
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome1Dec 21, 2021
Factor I deficiency2Jan 26, 2024
Factor XIII, A subunit, deficiency of2Oct 27, 2023
Familial Atypical Hemolytic-Uremic Syndrome7Apr 3, 2024
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome1Apr 19, 2022
Familial Mediterranean fever26Apr 14, 2023
Familial X-linked hypophosphatemic vitamin D refractory rickets16Apr 3, 2024
Familial adenomatous polyposis 238Oct 27, 2023
Familial amyloid neuropathy22Apr 3, 2024
Familial aortopathy35Apr 3, 2024
Familial cancer of breast34May 13, 2020
Familial dysautonomia13Nov 14, 2023
Familial dysfibrinogenemia12Feb 19, 2024
Familial ectopia lentis3Feb 6, 2023
Familial exudative vitreoretinopathy2Feb 6, 2023
Familial hemophagocytic lymphohistiocytosis39Apr 3, 2024
Familial hypercholesterolemia149Apr 3, 2024
Familial hyperinsulinism50Apr 3, 2024
Familial hypoaldosteronism1Oct 2, 2023
Familial hypoalphalipoproteinemia1May 12, 2022
Familial hypocalciuric hypercalcemia54Apr 3, 2024
Familial hypokalemia-hypomagnesemia18Apr 3, 2024
Familial hypoparathyroidism3Jan 26, 2024
Familial isolated arrhythmogenic right ventricular dysplasia29Oct 27, 2023
Familial isolated deficiency of vitamin E9Sep 14, 2022
Familial melanoma15Nov 14, 2023
Familial multiple polyposis syndrome94Apr 3, 2024
Familial partial lipodystrophy, Dunnigan type1Jul 25, 2023
Familial prostate carcinoma7Nov 14, 2023
Familial spontaneous pneumothorax3Apr 24, 2019
Familial temporal lobe epilepsy 71May 17, 2023
Familial thoracic aortic aneurysm and aortic dissection5Feb 19, 2024
Familial thyroid dyshormonogenesis 11Aug 25, 2023
Fanconi anemia72Feb 19, 2024
Fanconi anemia complementation group C29Apr 14, 2023
Fanconi anemia complementation group J7Aug 25, 2023
Fanconi-Bickel syndrome1Aug 25, 2023
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 33Mar 16, 2023
Filippi syndrome1Jan 26, 2024
Finnish congenital nephrotic syndrome56Jan 26, 2024
Floating-Harbor syndrome1May 17, 2023
Focal segmental glomerulosclerosis 91Jun 21, 2023
Fraser syndrome 116Jan 26, 2024
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1Apr 3, 2024
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41Feb 9, 2022
Fructose-biphosphatase deficiency3Dec 26, 2023
Fucosidosis10Oct 27, 2023
Fumarase deficiency1Apr 24, 2019
G6PD deficiency7Feb 19, 2024
GBE1-Related Disorders1Jul 25, 2023
GEMIN5-Related Disorders2Aug 5, 2021
GM1 gangliosidosis19Feb 19, 2024
GM3 synthase deficiency1Aug 25, 2023
GMPPB-Related Disorders4Nov 14, 2023
GNAS-related disorders1Feb 19, 2024
GNB5-Related Disorders2Nov 10, 2022
GNE myopathy19Apr 3, 2024
GOSR2-Related Disorders1Jun 21, 2023
GRACILE syndrome11Feb 19, 2024
GRN-Related Disorders1Dec 26, 2023
GTP cyclohydrolase I deficiency2Apr 14, 2023
Galactosylceramide beta-galactosidase deficiency44Jan 26, 2024
Gastrointestinal defect and immunodeficiency syndrome7May 17, 2023
Gaucher disease76Dec 26, 2023
Generalized epilepsy with febrile seizures plus3Nov 20, 2015
Generalized juvenile polyposis/juvenile polyposis coli8Dec 2, 2020
Glanzmann thrombasthenia 12Oct 27, 2023
Glanzmann thrombasthenia 22Jul 25, 2023
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome1Apr 29, 2020
Global developmental delay with speech and behavioral abnormalities1Jun 21, 2023
Glucocorticoid deficiency 11Feb 6, 2023
Glucocorticoid deficiency with achalasia7Dec 26, 2023
Glucose-6-phosphate transport defect30Dec 26, 2023
Glutamate formiminotransferase deficiency1Nov 14, 2023
Glutaric aciduria, type 153Apr 3, 2024
Glutaryl-CoA oxidase deficiency2Nov 14, 2023
Glycogen phosphorylase kinase deficiency20Apr 3, 2024
Glycogen storage disease IIIa7May 19, 2021
Glycogen storage disease IIIb1Jan 25, 2018
Glycogen storage disease IXa11Apr 24, 2019
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA31Oct 27, 2023
Glycogen storage disease due to muscle and heart glycogen synthase deficiency1Apr 14, 2023
Glycogen storage disease type III37Jan 26, 2024
Glycogen storage disease type X2Oct 27, 2023
Glycogen storage disease, type II134Feb 19, 2024
Glycogen storage disease, type IV12Oct 2, 2023
Glycogen storage disease, type V20Jan 26, 2024
Glycogen storage disease, type VI4Oct 2, 2023
Glycogen storage disease, type VII3May 17, 2023
Glycogen storage disorder due to hepatic glycogen synthase deficiency3Jun 21, 2023
Glycosylphosphatidylinositol biosynthesis defect 151Oct 13, 2022
Gonadotropin-independent familial sexual precocity3Aug 18, 2011
Gorlin syndrome3Jan 11, 2023
Granulomatous disease, chronic, X-linked23Feb 19, 2024
Griscelli syndrome type 22Sep 14, 2022
Growth hormone insensitivity syndrome2Nov 14, 2023
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy1Oct 27, 2023
HK1-Related Disorders1Aug 25, 2023
HOXD13-Related Disorders1Dec 26, 2023
HPRT1-Related Disorders2Jan 26, 2024
HTRA1-related cerebral small vessel disease1Nov 14, 2023
Harel-Yoon syndrome2Apr 3, 2024
Hearing loss, autosomal recessive 1111Jul 29, 2022
Heart and brain malformation syndrome1Jan 26, 2024
Hemochromatosis type 17Aug 25, 2023
Hemochromatosis type 2A7Feb 19, 2024
Hemochromatosis type 2B1Apr 14, 2023
Hemochromatosis type 31May 17, 2023
Hemoglobin D disease1Mar 6, 2020
Hemoglobinopathy41Apr 3, 2024
Hemolytic anemia due to glucophosphate isomerase deficiency1Jun 21, 2023
Hennekam lymphangiectasia-lymphedema syndrome 11Apr 3, 2024
Hepatic methionine adenosyltransferase deficiency1Aug 25, 2023
Hepatic veno-occlusive disease-immunodeficiency syndrome1Jul 15, 2022
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 16Nov 14, 2023
Hereditary acrodermatitis enteropathica2Jan 26, 2024
Hereditary antithrombin deficiency2Oct 22, 2021
Hereditary breast ovarian cancer syndrome1486Apr 3, 2024
Hereditary cancer-predisposing syndrome9Jan 25, 2018
Hereditary coproporphyria1May 17, 2023
Hereditary diffuse gastric adenocarcinoma15Jan 26, 2024
Hereditary episodic ataxia1Nov 14, 2023
Hereditary factor IX deficiency disease18Apr 3, 2024
Hereditary factor VIII deficiency disease28Apr 3, 2024
Hereditary factor XI deficiency disease7Dec 26, 2023
Hereditary fructosuria20Aug 25, 2023
Hereditary insensitivity to pain with anhidrosis11Nov 14, 2023
Hereditary leiomyomatosis and renal cell cancer8Oct 2, 2023
Hereditary nonpolyposis colon cancer331Apr 3, 2024
Hereditary pancreatitis19Dec 26, 2023
Hereditary pheochromocytoma-paraganglioma28Nov 14, 2023
Hereditary spastic paraplegia34Feb 19, 2024
Hereditary spastic paraplegia 122Jul 29, 2022
Hereditary spastic paraplegia 151Oct 2, 2023
Hereditary spastic paraplegia 21Dec 26, 2023
Hereditary spastic paraplegia 261Jul 25, 2023
Hereditary spastic paraplegia 301Mar 16, 2023
Hereditary spastic paraplegia 354Feb 19, 2024
Hereditary spastic paraplegia 3A2Jul 25, 2023
Hereditary spastic paraplegia 48Apr 3, 2024
Hereditary spastic paraplegia 451Jul 15, 2022
Hereditary spastic paraplegia 463Apr 3, 2024
Hereditary spastic paraplegia 471Jul 25, 2023
Hereditary spastic paraplegia 481Nov 14, 2023
Hereditary spastic paraplegia 501Dec 26, 2023
Hereditary spastic paraplegia 511Jul 15, 2022
Hereditary spastic paraplegia 542Jul 25, 2023
Hereditary spastic paraplegia 714Apr 3, 2024
Hereditary spastic paraplegia 751Apr 3, 2024
Hereditary von Willebrand disease34Jan 26, 2024
Hermansky-Pudlak syndrome35Feb 19, 2024
Hirschsprung disease, susceptibility to, 11Aug 18, 2011
Histiocytic medullary reticulosis5May 13, 2020
Hogue-Janssens syndrome 12Jan 26, 2024
Holocarboxylase synthetase deficiency14Aug 25, 2023
Holoprosencephaly 51Apr 14, 2023
Holt-Oram syndrome2Jan 26, 2024
Homocystinuria60Apr 3, 2024
Homocystinuria due to methylene tetrahydrofolate reductase deficiency5Oct 27, 2023
Hyaline fibromatosis syndrome3Oct 2, 2023
Hydrocephalus, nonsyndromic, autosomal recessive 21Jan 26, 2024
Hydrolethalus syndrome2Mar 16, 2023
Hyper-IgE recurrent infection syndrome 1, autosomal dominant12Feb 19, 2024
Hyper-IgE syndrome3Apr 24, 2019
Hyper-IgM syndrome type 15Feb 6, 2023
Hyper-IgM syndrome type 23Jan 26, 2024
Hyper-IgM syndrome type 52Aug 18, 2011
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency1Sep 14, 2022
Hypercalcemia, infantile, 13Mar 16, 2023
Hypercholesterolemia, autosomal dominant, type B1Dec 26, 2023
Hypercholesterolemia, familial, 115Aug 18, 2011
Hyperimmunoglobulin D with periodic fever2Jan 26, 2024
Hyperimmunoglobulin M syndrome2Mar 6, 2020
Hyperinsulinemic hypoglycemia, familial, 112Oct 27, 2023
Hyperlipoproteinemia, type I6Jan 11, 2023
Hyperlysinemia3Feb 19, 2024
Hypermanganesemia with dystonia 21Jun 21, 2023
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase1Jul 25, 2023
Hyperornithinemia7Jul 25, 2023
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome3Oct 27, 2023
Hyperphenylalaninemia9Jan 25, 2018
Hyperphosphatasia with intellectual disability syndrome 21Jun 21, 2023
Hyperphosphatasia with intellectual disability syndrome 41Jan 11, 2023
Hyperproinsulinemia1Sep 14, 2022
Hyperprolinemia type 21Jun 21, 2023
Hypogonadotropic hypogonadism 1 with or without anosmia1Oct 6, 2020
Hypogonadotropic hypogonadism 14 with or without anosmia1Mar 6, 2020
Hypogonadotropic hypogonadism 3 with or without anosmia2Nov 14, 2023
Hypogonadotropic hypogonadism 5 with or without anosmia2Jun 21, 2023
Hypogonadotropic hypogonadism 7 with or without anosmia5Oct 2, 2023
Hypogonadotropic hypogonadism 8 with or without anosmia1Nov 14, 2023
Hypohidrotic X-linked ectodermal dysplasia1Mar 11, 2022
Hypokalemic periodic paralysis1Dec 14, 2022
Hypomyelinating leukodystrophy 103Apr 3, 2024
Hypomyelinating leukodystrophy 21Oct 13, 2022
Hypomyelinating leukodystrophy 32Dec 26, 2023
Hypomyelinating leukodystrophy 62Aug 25, 2023
Hypomyelinating leukodystrophy 91Oct 2, 2023
Hypomyelination and Congenital Cataract3Feb 19, 2024
Hypophosphatasia68Apr 3, 2024
Hypothyroidism due to TSH receptor mutations3Feb 19, 2024
Hypotonia, ataxia, and delayed development syndrome1Nov 14, 2023
Hypotonia, infantile, with psychomotor retardation and characteristic facies 23Oct 2, 2023
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32Mar 6, 2020
IFN-gamma receptor 1 deficiency1Jan 25, 2018
IFT172-Related Disorders1Apr 19, 2022
ITGA2B-Related Disorders1May 17, 2023
Ichthyosis linearis circumflexa1Jan 26, 2024
Ichthyosis vulgaris1Feb 9, 2021
Idiopathic basal ganglia calcification 12Dec 14, 2022
Idiopathic growth hormone deficiency5Feb 19, 2024
Idiopathic nephrotic syndrome8Apr 14, 2023
Imerslund-Grasbeck syndrome type 11Oct 27, 2023
Immunodeficiency 106, susceptibility to viral infections1Oct 2, 2023
Immunodeficiency, common variable, 22Aug 18, 2011
Immunodeficiency, common variable, 71Aug 25, 2023
Immunodeficiency-centromeric instability-facial anomalies syndrome 12Jan 11, 2023
Immunodeficiency-centromeric instability-facial anomalies syndrome 22Apr 14, 2023
Immunoglobulin-mediated membranoproliferative glomerulonephritis1Dec 31, 2020
Incontinentia pigmenti syndrome2Feb 19, 2024
Infantile epileptic dyskinetic encephalopathy3Apr 14, 2023
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency1Mar 11, 2022
Inherited glutathione synthetase deficiency11Apr 14, 2023
Insulin-dependent diabetes mellitus secretory diarrhea syndrome3Aug 30, 2022
Intellectual developmental disorder 611Nov 16, 2021
Intellectual developmental disorder 621Nov 10, 2022
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Aug 25, 2023
Intellectual developmental disorder with dysmorphic facies and ptosis2Jan 26, 2024
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Mar 6, 2020
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1Apr 14, 2023
Intellectual developmental disorder with seizures and language delay2Oct 27, 2023
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy1Feb 19, 2024
Intellectual developmental disorder, autosomal recessive 671Mar 16, 2023
Intellectual developmental disorder, autosomal recessive 681Feb 19, 2024
Intellectual developmental disorder, autosomal recessive 691Jun 21, 2023
Intellectual developmental disorder, autosomal recessive 721Apr 29, 2020
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly1Oct 2, 2023
Intellectual disability, X-linked 1024Oct 13, 2022
Intellectual disability, X-linked 1071Jul 29, 2022
Intellectual disability, X-linked 411May 12, 2022
Intellectual disability, X-linked 91Jun 21, 2023
Intellectual disability, X-linked 901Apr 3, 2024
Intellectual disability, X-linked 991Dec 14, 2022
Intellectual disability, X-linked syndromic, Turner type2Aug 25, 2023
Intellectual disability, X-linked, syndromic 331May 17, 2023
Intellectual disability, X-linked, syndromic, Bain type1Jul 29, 2022
Intellectual disability, X-linked, with or without seizures, arx-related4Feb 19, 2024
Intellectual disability, autosomal dominant 141Aug 30, 2022
Intellectual disability, autosomal dominant 201Jul 29, 2022
Intellectual disability, autosomal dominant 241Apr 19, 2022
Intellectual disability, autosomal dominant 391Nov 14, 2023
Intellectual disability, autosomal dominant 431Nov 14, 2023
Intellectual disability, autosomal dominant 451Feb 19, 2024
Intellectual disability, autosomal dominant 471Apr 24, 2019
Intellectual disability, autosomal dominant 51Nov 14, 2023
Intellectual disability, autosomal dominant 522Oct 27, 2023
Intellectual disability, autosomal dominant 61Mar 6, 2020
Intellectual disability, autosomal dominant 81May 12, 2022
Intellectual disability, autosomal dominant 92Jul 15, 2022
Intellectual disability, autosomal recessive 132Feb 19, 2024
Intellectual disability, autosomal recessive 181Feb 9, 2021
Intellectual disability, autosomal recessive 272Dec 26, 2023
Intellectual disability, autosomal recessive 31Jan 11, 2023
Intellectual disability, autosomal recessive 341Jan 26, 2024
Intellectual disability, autosomal recessive 432Jan 11, 2023
Intellectual disability, autosomal recessive 461Dec 31, 2020
Intellectual disability, autosomal recessive 533Dec 26, 2023
Intellectual disability, autosomal recessive 581Apr 19, 2022
Intellectual disability, autosomal recessive 651Aug 5, 2021
Intellectual disability, autosomal recessive 72Dec 26, 2023
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome1Jul 1, 2020
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1Apr 7, 2021
Intellectual disability-severe speech delay-mild dysmorphism syndrome3Apr 3, 2024
Interferon gamma receptor deficiency6Aug 18, 2011
Interstitial lung disease due to ABCA3 deficiency7Feb 19, 2024
Iodotyrosine deiodination defect1Aug 25, 2023
Isolated growth hormone deficiency, type 42Oct 27, 2023
Isovaleryl-CoA dehydrogenase deficiency11Nov 14, 2023
Jervell and Lange-Nielsen syndrome1Jan 26, 2024
Joubert syndrome 23Nov 16, 2021
Joubert syndrome 212Dec 26, 2023
Joubert syndrome 261Apr 14, 2023
Joubert syndrome 331Jan 26, 2024
Joubert syndrome 381Apr 19, 2022
Joubert syndrome 63Oct 2, 2023
Joubert syndrome and related disorders148Apr 3, 2024
Junctional epidermolysis bullosa33Feb 19, 2024
Junctional epidermolysis bullosa gravis of Herlitz13May 13, 2020
Junctional epidermolysis bullosa, non-Herlitz type3Mar 6, 2020
Juvenile polyposis syndrome6Jan 11, 2023
Juvenile retinoschisis2Jun 21, 2023
KARS1-Related Disorders1Dec 26, 2023
KBG syndrome1Apr 3, 2024
KCNQ2-Related Disorders3Apr 3, 2024
KIF5A-Related Disorders1Dec 14, 2022
KRIT1-Related Disorders1Dec 26, 2023
Kabuki syndrome 12Oct 2, 2023
Kabuki syndrome 21Oct 2, 2023
Kleefstra syndrome 11Dec 31, 2020
Kleefstra syndrome 23Aug 25, 2023
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome3Oct 27, 2023
Knobloch syndrome 11Jun 21, 2023
Koolen-de Vries syndrome1Oct 13, 2022
L-2-hydroxyglutaric aciduria3Nov 14, 2023
L-ferritin deficiency1Sep 14, 2022
L1 syndrome15Feb 19, 2024
LAMA2-related muscular dystrophy21Feb 19, 2024
LBR-Related Disorders1Feb 19, 2024
LIPE-related familial partial lipodystrophy1Jan 26, 2024
Lamellar ichthyosis67Feb 19, 2024
Landau-Kleffner syndrome1May 19, 2021
Larsen syndrome1Sep 14, 2022
Laryngo-onycho-cutaneous syndrome1Jul 15, 2022
Leber congenital amaurosis57Feb 19, 2024
Left ventricular noncompaction1Dec 14, 2022
Legius syndrome2Jul 25, 2023
Leigh syndrome76Feb 19, 2024
Leri-Weill dyschondrosteosis4Nov 14, 2023
Lethal arthrogryposis-anterior horn cell disease syndrome1Jun 21, 2023
Lethal congenital contracture syndrome 111Dec 26, 2023
Lethal congenital contracture syndrome 22Oct 27, 2023
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome1May 17, 2023
Lethal multiple pterygium syndrome9Dec 26, 2023
Lethal osteosclerotic bone dysplasia1Nov 14, 2023
Leukocyte adhesion deficiency type II1Dec 26, 2023
Leukodystrophy and acquired microcephaly with or without dystonia;1Jul 25, 2023
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome4Jan 26, 2024
Leukoencephalopathy with calcifications and cysts2Feb 19, 2024
Leukoencephalopathy with mild cerebellar ataxia and white matter edema1Mar 11, 2022
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome2Jan 26, 2024
Leydig cell agenesis1Dec 26, 2023
Li-Fraumeni syndrome32Jan 26, 2024
Lichtenstein-Knorr syndrome1Jan 6, 2022
Liddle syndrome 11Sep 14, 2022
Lipoic acid synthetase deficiency2Nov 14, 2023
Lissencephaly type 33Apr 3, 2024
Loeys-Dietz syndrome16Oct 13, 2022
Long QT syndrome44Apr 3, 2024
Long QT syndrome 15Sep 24, 2019
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency16Jun 21, 2023
Lymphatic malformation 61Aug 25, 2023
Lynch syndrome204May 13, 2020
Lysinuric protein intolerance7Jan 26, 2024
MAN2B2-Related Disorders1Apr 27, 2021
MBD5 associated neurodevelopmental disorder1Apr 14, 2023
MECP2-Related Disorders1Aug 25, 2023
MED12-related disorder1Sep 14, 2022
MEDNIK syndrome1Jan 26, 2024
MEN2 phenotype: Unclassified5May 17, 2023
MFN2-Related Disorders2Nov 14, 2023
MHC class I deficiency2Jul 25, 2023
MHC class II deficiency9Oct 27, 2023
MICU2-Related Disorders1May 19, 2021
MPI-congenital disorder of glycosylation4May 17, 2023
MPZ-Related Disorders2Jul 25, 2023
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA8Jun 21, 2023
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB1Sep 1, 2021
MUSK-Related Disorders1Jan 26, 2024
MYH3-Related Disorders5Feb 19, 2024
MYO6-Related Disorders1Nov 14, 2023
MYO7A-Related Disorders1Dec 2, 2020
Macrocephaly, acquired, with impaired intellectual development1Aug 6, 2020
Macrocephaly, dysmorphic facies, and psychomotor retardation1Apr 3, 2024
Macrocephaly-developmental delay syndrome1Aug 25, 2023
Macrocephaly/megalencephaly syndrome, autosomal recessive1Apr 3, 2024
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss3Dec 26, 2023
Macrothrombocytopenia, isolated, 1, autosomal dominant3Apr 3, 2024
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome1Jan 11, 2023
Macular corneal dystrophy4Nov 14, 2023
Majeed syndrome1Jul 15, 2022
Malan overgrowth syndrome2Mar 6, 2020
Malignant hyperthermia of anesthesia12Nov 14, 2023
Malignant tumor of breast88Apr 3, 2024
Maple syrup urine disease39Jan 26, 2024
Maple syrup urine disease type 1A7Apr 7, 2021
Maple syrup urine disease type 1B12Aug 25, 2023
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections154Apr 3, 2024
Marfan syndrome85Nov 27, 2018
Marinesco-Sjögren syndrome2Dec 26, 2023
Maturity onset diabetes mellitus in young27Jan 26, 2024
Maturity-onset diabetes of the young type 120Nov 17, 2015
Maturity-onset diabetes of the young type 2107Apr 3, 2024
Maturity-onset diabetes of the young type 336Nov 17, 2015
Maturity-onset diabetes of the young type 410Nov 17, 2015
Maturity-onset diabetes of the young type 81Aug 18, 2011
Meckel syndrome, type 17Apr 3, 2024
Meckel syndrome, type 411Feb 19, 2024
Meckel syndrome, type 66Feb 19, 2024
Medium-chain acyl-coenzyme A dehydrogenase deficiency47Feb 19, 2024
Megaconial type congenital muscular dystrophy1Aug 25, 2023
Megalencephalic leukoencephalopathy with subcortical cysts9Jan 26, 2024
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability1Aug 25, 2023
Meier-Gorlin syndrome 41May 17, 2023
Melanoma, cutaneous malignant, susceptibility to, 81Sep 14, 2022
Menke-Hennekam syndrome1Aug 30, 2022
Menkes kinky-hair syndrome6Apr 3, 2024
Metachromatic leukodystrophy58Jan 26, 2024
Metaphyseal anadysplasia 1, autosomal dominant1Jul 29, 2022
Metaphyseal chondrodysplasia, McKusick type58Aug 25, 2023
Methylcobalamin deficiency type cblE1Aug 25, 2023
Methylcobalamin deficiency type cblG1Dec 26, 2023
Methylcrotonyl-CoA carboxylase deficiency21Feb 19, 2024
Methylmalonic acidemia85Apr 3, 2024
Microcephalic osteodysplastic primordial dwarfism type II1Jan 26, 2024
Microcephalic primordial dwarfism due to RTTN deficiency2Dec 26, 2023
Microcephaly 14, primary, autosomal recessive2Apr 3, 2024
Microcephaly 20, primary, autosomal recessive2Jul 25, 2023
Microcephaly 21, primary, autosomal recessive1Feb 9, 2022
Microcephaly 3, primary, autosomal recessive2Apr 3, 2024
Microcephaly 6, primary, autosomal recessive1Feb 6, 2023
Microcephaly 7, primary, autosomal recessive1May 12, 2022
Microcephaly, developmental delay, and brittle hair syndrome1Oct 27, 2023
Microcephaly, normal intelligence and immunodeficiency25Apr 3, 2024
Microcephaly, short stature, and limb abnormalities1May 12, 2022
Microcephaly-capillary malformation syndrome1Nov 14, 2023
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome2Apr 3, 2024
Microspherophakia1Jan 6, 2022
Miller syndrome1Aug 25, 2023
Mismatch repair cancer syndrome 12Mar 6, 2020
Mitochondrial DNA depletion syndrome24Apr 3, 2024
Mitochondrial DNA depletion syndrome 14Apr 3, 2024
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive2Aug 25, 2023
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1Jun 21, 2023
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1Aug 25, 2023
Mitochondrial complex 1 deficiency, nuclear type 171Jan 11, 2023
Mitochondrial complex 1 deficiency, nuclear type 193Feb 19, 2024
Mitochondrial complex 1 deficiency, nuclear type 22Feb 19, 2024
Mitochondrial complex 1 deficiency, nuclear type 213Dec 26, 2023
Mitochondrial complex 1 deficiency, nuclear type 221Aug 30, 2022
Mitochondrial complex 1 deficiency, nuclear type 251Jul 15, 2022
Mitochondrial complex 1 deficiency, nuclear type 292Jan 11, 2023
Mitochondrial complex 1 deficiency, nuclear type 313Apr 14, 2023
Mitochondrial complex 1 deficiency, nuclear type 321Apr 19, 2022
Mitochondrial complex 1 deficiency, nuclear type 341Jun 17, 2021
Mitochondrial complex 1 deficiency, nuclear type 71Aug 30, 2022
Mitochondrial complex 4 deficiency, nuclear type 112Jun 21, 2023
Mitochondrial complex 4 deficiency, nuclear type 31Apr 19, 2022
Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 61Oct 6, 2020
Mitochondrial complex I deficiency12Apr 3, 2024
Mitochondrial complex III deficiency nuclear type 21Oct 2, 2023
Mitochondrial complex III deficiency nuclear type 51Jun 21, 2023
Mitochondrial complex IV deficiency, nuclear type 11Oct 2, 2023
Mitochondrial complex V (ATP synthase) deficiency nuclear type 22Feb 6, 2023
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency1Jan 26, 2024
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome1May 19, 2021
Mitochondrial myopathy-lactic acidosis-deafness syndrome1Oct 2, 2023
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency1Aug 25, 2023
Mitochondrial trifunctional protein deficiency14Nov 14, 2023
Mitochondrial trifunctional protein deficiency 21Oct 27, 2023
Monogenic diabetes48Apr 3, 2024
Morquio syndrome40Feb 19, 2024
Mowat-Wilson syndrome1Jan 6, 2022
Mucolipidosis26Oct 2, 2023
Mucolipidosis type II7Feb 6, 2023
Mucolipidosis type IV14Apr 14, 2023
Mucopolysaccharidosis type 156Feb 19, 2024
Mucopolysaccharidosis type 628Feb 19, 2024
Mucopolysaccharidosis type 710Nov 14, 2023
Mucopolysaccharidosis, MPS-II12Dec 26, 2023
Mucopolysaccharidosis, MPS-III-A26Oct 2, 2023
Mucopolysaccharidosis, MPS-III-B31Dec 26, 2023
Mucopolysaccharidosis, MPS-III-D2Jun 21, 2023
Mucopolysaccharidosis, MPS-IV-B15Oct 27, 2023
Multiple acyl-CoA dehydrogenase deficiency27Feb 19, 2024
Multiple congenital anomalies-hypotonia-seizures syndrome 13Aug 25, 2023
Multiple congenital exostosis1Apr 24, 2019
Multiple endocrine neoplasia, type 145Feb 19, 2024
Multiple endocrine neoplasia, type 25Nov 14, 2023
Multiple mitochondrial dysfunctions syndrome 11Oct 27, 2023
Multiple mitochondrial dysfunctions syndrome 21Aug 25, 2023
Multiple mitochondrial dysfunctions syndrome 41Oct 2, 2023
Multiple sulfatase deficiency11Dec 26, 2023
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 411Oct 2, 2023
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101Jan 26, 2024
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 112Jul 25, 2023
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 121Feb 9, 2022
Myasthenic syndrome, congenital, 221Oct 2, 2023
Myoclonic dystonia 112Dec 26, 2023
Myofibrillar myopathy 31Apr 3, 2024
Myofibrillar myopathy 71Oct 2, 2023
Myopathy, RYR1-associated3Feb 19, 2024
Myopathy, lactic acidosis, and sideroblastic anemia 12Dec 14, 2022
Myopathy, lactic acidosis, and sideroblastic anemia 21Nov 14, 2023
Myopathy, proximal, and ophthalmoplegia2Dec 26, 2023
NOTCH3-Related Disorders2Jul 25, 2023
NPR2-Related Disorders3Apr 3, 2024
NR3C2-Related Disorders1Apr 3, 2024
NUP214-Related Disorders1May 17, 2023
Nemaline myopathy85Apr 3, 2024
Neonatal diabetes mellitus22Nov 17, 2015
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome1Jul 25, 2023
Neonatal severe primary hyperparathyroidism2Feb 9, 2022
Nephrogenic diabetes insipidus23Jun 21, 2023
Nephronophthisis 131Dec 21, 2021
Nephronophthisis 152Nov 14, 2023
Nephronophthisis 31Dec 21, 2021
Nephronophthisis 41Mar 6, 2020
Nephrotic syndrome, type 216Nov 16, 2021
Nephrotic syndrome, type 91Feb 19, 2024
Neurodegeneration with ataxia and late-onset optic atrophy5Jan 26, 2024
Neurodegeneration with brain iron accumulation41Jan 26, 2024
Neurodegeneration with brain iron accumulation 51Mar 6, 2020
Neurodegeneration, infantile-onset, biotin-responsive1Jan 11, 2023
Neurodevelopmental disorder1Mar 6, 2020
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity1Apr 14, 2023
Neurodevelopmental disorder with absent language and variable seizures2Jun 21, 2023
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures3Feb 19, 2024
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities1Dec 26, 2023
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities1Nov 14, 2023
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness1May 17, 2023
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy1Nov 14, 2023
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures1Sep 14, 2022
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Mar 11, 2022
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities1Feb 19, 2024
Neurodevelopmental disorder with speech delay and variable ocular anomalies1Dec 26, 2023
Neurodevelopmental disorder with speech impairment and dysmorphic facies1Mar 16, 2023
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities1Jun 21, 2023
Neurofibromatosis, type 139Nov 14, 2023
Neurofibromatosis, type 23Feb 26, 2021
Neuronal ceroid lipofuscinosis108Apr 3, 2024
Neuronal ceroid lipofuscinosis 15Mar 6, 2020
Neuronal ceroid lipofuscinosis 21Apr 29, 2020
Neuronal ceroid lipofuscinosis 35Mar 6, 2020
Neuronal ceroid lipofuscinosis 51Mar 6, 2020
Neuronal ceroid lipofuscinosis 83Apr 14, 2023
Neuronopathy, distal hereditary motor, autosomal recessive 43Mar 16, 2023
Neuronopathy, distal hereditary motor, autosomal recessive 81Dec 21, 2021
Neuropathy, congenital hypomyelinating, 31Oct 27, 2023
Neuropathy, hereditary sensory and autonomic, type 2B1Oct 2, 2023
Neuropathy, hereditary sensory, type 2C1Oct 6, 2020
Neutral 1 amino acid transport defect5Feb 19, 2024
Neutral lipid storage myopathy1Oct 27, 2023
Nicolaides-Baraitser syndrome1Mar 6, 2020
Niemann-Pick disease, type A18Jan 11, 2023
Niemann-Pick disease, type B8May 17, 2023
Niemann-Pick disease, type C74Jan 26, 2024
Nijmegen breakage syndrome-like disorder2Feb 9, 2021
Non-ketotic hyperglycinemia45Dec 26, 2023
Non-syndromic X-linked intellectual disability1Oct 22, 2020
Nonsyndromic Deafness1Mar 6, 2020
Nonsyndromic genetic hearing loss47Feb 19, 2024
Noonan syndrome4Sep 24, 2019
Noonan syndrome 24Apr 3, 2024
Noonan syndrome 321Sep 24, 2019
Noonan syndrome with multiple lentigines4Feb 6, 2023
Noonan syndrome-like disorder with loose anagen hair1Sep 1, 2021
O'Donnell-Luria-Rodan syndrome3Oct 27, 2023
OPA1-Related Disorders3Feb 19, 2024
OPTN-Related Disorders1Dec 26, 2023
Obesity10Nov 17, 2015
Occipital pachygyria and polymicrogyria1Jul 29, 2022
Oculocutaneous albinism22Apr 3, 2024
Oculocutaneous albinism type 31Apr 3, 2024
Oculocutaneous albinism type 42Aug 25, 2023
Odonto-onycho-dermal dysplasia1Nov 14, 2023
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1Aug 25, 2023
Ornithine carbamoyltransferase deficiency20Oct 27, 2023
Orofaciodigital syndrome I1Nov 14, 2023
Orofaciodigital syndrome type 143Apr 3, 2024
Orofaciodigital syndrome type 61Jul 29, 2022
Orthostatic hypotension 11Jan 26, 2024
Osteochondrodysplasia4Feb 19, 2024
Osteogenesis imperfecta92Apr 3, 2024
Osteogenesis imperfecta type 51Jul 25, 2023
Osteopetrosis9Apr 14, 2023
Osteopetrosis with renal tubular acidosis1Jan 26, 2024
Osteoporosis with pseudoglioma2Oct 2, 2023
PALB2-Related Disorders1Feb 9, 2022
PARN-Related Disorders1Apr 3, 2024
PAX2-Related Disorders2Feb 19, 2024
PDX1-Related Disorders2Jun 21, 2023
PDZD7-Related Disorders1Mar 16, 2023
PGM1-congenital disorder of glycosylation2Jan 26, 2024
PHARC syndrome1Feb 19, 2024
PHGDH deficiency7Jan 26, 2024
PI4KA-Related Disorders2Oct 2, 2023
PIEZO2-Related Disorders4Feb 19, 2024
PIK3CA related overgrowth syndrome2Jul 29, 2022
PLEC-Related Disorders1May 17, 2023
PMM2-congenital disorder of glycosylation56Oct 2, 2023
PNKP-related disorders1Apr 3, 2024
PNPLA6-related disorders2Jun 21, 2023
PNPT1-Related Disorders3Oct 2, 2023
POLG-Related Spectrum Disorders14Jan 26, 2024
POLG2-Related Disorders2Oct 2, 2023
POLR1C-Related Disorders4Oct 27, 2023
POLR3-related leukodystrophy2Jul 29, 2022
PPARG-Related Disorders1Dec 14, 2022
PRNP-Related Disorders2Feb 19, 2024
PRPH2-Related Disorders1Dec 26, 2023
PSAT1-Related Disorders3Apr 3, 2024
PTEN hamartoma tumor syndrome1Dec 31, 2020
PTPN4-Related Disorders1Apr 3, 2024
PUM1-Related Disorders1Dec 26, 2023
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Mar 6, 2020
Palmoplantar keratoderma-deafness syndrome1Jan 25, 2018
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome1Mar 16, 2023
Papillon-Lefèvre syndrome3Oct 2, 2023
Parathyroid carcinoma2May 17, 2023
Parietal foramina 21Jul 15, 2022
Pendred syndrome44Feb 19, 2024
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development1Oct 2, 2023
Periventricular nodular heterotopia 61Jul 15, 2022
Periventricular nodular heterotopia 91Jan 11, 2023
Permanent neonatal diabetes mellitus1Apr 19, 2022
Peroxisome biogenesis disorder108Apr 3, 2024
Persistent Mullerian duct syndrome1Oct 2, 2023
Peters plus syndrome2Jul 15, 2022
Peutz-Jeghers syndrome14Jun 21, 2023
Phenylketonuria179Apr 3, 2024
Pheochromocytoma2Feb 9, 2022
Pierson syndrome1Oct 27, 2023
Pigmentary pallidal degeneration14Jan 26, 2024
Pilarowski-Bjornsson syndrome1Apr 3, 2024
Pili torti-deafness syndrome2Dec 14, 2022
Pili torti-developmental delay-neurological abnormalities syndrome1Sep 14, 2022
Pitt-Hopkins syndrome1Mar 16, 2023
Pitt-Hopkins-like syndrome 22Dec 26, 2023
Plasminogen deficiency, type I1Jan 26, 2024
Platelet-type bleeding disorder 151Mar 16, 2023
Poirier-Bienvenu neurodevelopmental syndrome1Jan 11, 2023
Pol III-related leukodystrophy4Jan 26, 2024
Polycystic kidney disease 25Jun 21, 2023
Polycystic kidney disease, adult type18Feb 19, 2024
Polyglandular autoimmune syndrome, type 122Feb 19, 2024
Polyglucosan body myopathy type 11Oct 2, 2023
Polyglucosan body myopathy type 23Nov 14, 2023
Pontocerebellar hypoplasia type 31Jun 21, 2023
Pontocerebellar hypoplasia, type 1D1Nov 10, 2022
Pontoneocerebellar hypoplasia48Apr 3, 2024
Porencephaly 22Jan 11, 2023
Portal hypertension, noncirrhotic, 21Feb 19, 2024
Posterior column ataxia-retinitis pigmentosa syndrome2Oct 27, 2023
Postmenopausal osteoporosis2Aug 18, 2011
Pretibial dystrophic epidermolysis bullosa1Mar 6, 2020
Primary ciliary dyskinesia 21Jan 6, 2022
Primary ciliary dyskinesia 32Oct 2, 2023
Primary ciliary dyskinesia 91Aug 25, 2023
Primary congenital glaucoma18Feb 19, 2024
Primary dilated cardiomyopathy7Nov 20, 2015
Primary familial dilated cardiomyopathy47Feb 19, 2024
Primary familial hypertrophic cardiomyopathy84Apr 3, 2024
Primary hyperoxaluria35Jan 26, 2024
Primary hyperoxaluria type 38Jun 21, 2023
Primary hyperoxaluria, type II8Jan 26, 2024
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 32Feb 6, 2023
Progressive familial intrahepatic cholestasis31Feb 19, 2024
Progressive myoclonic epilepsy type 71Oct 27, 2023
Progressive pseudorheumatoid dysplasia7Aug 25, 2023
Proline dehydrogenase deficiency2Dec 26, 2023
Propionic acidemia57Feb 19, 2024
Proteasome-associated autoinflammatory syndrome 11Oct 13, 2022
Protoporphyria, erythropoietic, 11Jul 25, 2023
Proximal myopathy with extrapyramidal signs1Sep 14, 2022
Pseudo-Hurler polydystrophy1Jan 25, 2018
Pseudo-TORCH syndrome 21Jun 21, 2023
Pyknodysostosis2Jan 26, 2024
Pyridoxal phosphate-responsive seizures7Aug 25, 2023
Pyridoxine-dependent epilepsy12Jan 26, 2024
Pyruvate carboxylase deficiency1Feb 19, 2024
Pyruvate dehydrogenase E1-beta deficiency2Nov 14, 2023
Pyruvate dehydrogenase E3 deficiency7May 17, 2023
Pyruvate dehydrogenase E3-binding protein deficiency2Mar 16, 2023
Pyruvate dehydrogenase complex deficiency2Feb 9, 2022
Pyruvate kinase deficiency of red cells1Dec 26, 2023
Qualitative or quantitative defects of dystrophin156Dec 26, 2023
Quebec platelet disorder1Oct 13, 2022
RAB3GAP1-Related Disorders2Oct 27, 2023
RAB3GAP2-Related Disorders1Nov 10, 2022
RASopathy102Feb 19, 2024
RECQL4-Related Disorders3Oct 27, 2023
RYR1-Related Disorders2Aug 25, 2023
Radial aplasia-thrombocytopenia syndrome3Jul 25, 2023
Radio-Tartaglia syndrome1Nov 14, 2023
Rapadilino syndrome3Sep 1, 2021
Renal carnitine transport defect50Feb 19, 2024
Renal cysts and diabetes syndrome20Aug 18, 2011
Renal hypodysplasia/aplasia 32Oct 2, 2023
Renal tubular acidosis with progressive nerve deafness7Oct 27, 2023
Renal-hepatic-pancreatic dysplasia 21Oct 27, 2023
Retinal dystrophy5Feb 19, 2024
Retinitis pigmentosa93Feb 19, 2024
Retinitis pigmentosa 431Aug 25, 2023
Retinitis pigmentosa 592Oct 13, 2022
Retinitis pigmentosa 731Aug 25, 2023
Retinoblastoma2Jul 29, 2022
Rett syndrome44Nov 14, 2023
Rett syndrome, congenital variant1Jul 29, 2022
Rh deficiency syndrome1Oct 27, 2023
Rhizomelic chondrodysplasia punctata3Aug 25, 2023
Rhizomelic chondrodysplasia punctata type 116Apr 3, 2024
Rippling muscle disease 22Apr 14, 2023
Roberts-SC phocomelia syndrome1May 17, 2023
Roifman syndrome2Aug 25, 2023
Rothmund-Thomson syndrome type 23Sep 1, 2021
Rotor syndrome2Jan 11, 2023
Rubinstein-Taybi syndrome due to CREBBP mutations2Oct 27, 2023
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1Jul 29, 2022
SAMD9L-Related Disorders1Mar 16, 2023
SCOTT SYNDROME1Apr 14, 2023
SEC23B-Related Disorders1Apr 19, 2022
SHH-Related Disorders1Feb 6, 2023
SHORT syndrome1Mar 6, 2020
SHOX-related short stature4Nov 17, 2015
SIM1-Related Disorders1Dec 2, 2020
SIN3A-related intellectual disability syndrome1Nov 14, 2023
SLC12A2-Related Disorders1May 17, 2023
SLC16A1-Related Disorders2Jan 26, 2024
SYNE1-Related Disorders3Apr 3, 2024
Salla disease14Oct 2, 2023
Sandhoff disease37Oct 2, 2023
Sanfilippo syndrome26Oct 2, 2023
Schaaf-Yang syndrome1Jul 15, 2022
Schwannomatosis3Oct 6, 2020
Schwartz-Jampel syndrome type 11Oct 27, 2023
Seckel syndrome 61Oct 2, 2023
Seckel syndrome 71Feb 6, 2023
Severe X-linked myotubular myopathy7Nov 14, 2023
Severe combined immunodeficiency disease124Apr 3, 2024
Severe combined immunodeficiency due to IKK2 deficiency1Apr 19, 2022
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency3Jan 25, 2018
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1Mar 6, 2020
Severe congenital neutropenia3Mar 16, 2023
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Apr 14, 2023
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1Dec 26, 2023
Severe intellectual disability-progressive spastic diplegia syndrome4Aug 25, 2023
Severe myoclonic epilepsy in infancy6Jan 25, 2018
Short stature with microcephaly and distinctive facies1Aug 30, 2022
Short stature, microcephaly, and endocrine dysfunction1Dec 14, 2022
Short stature-brachydactyly-obesity-global developmental delay syndrome4Apr 3, 2024
Short-rib thoracic dysplasia 11 with or without polydactyly1May 17, 2023
Short-rib thoracic dysplasia 19 with or without polydactyly1Jan 26, 2024
Shprintzen-Goldberg syndrome1May 12, 2022
Shwachman-Diamond syndrome 12Apr 3, 2024
Sialidosis12Jan 26, 2024
Sickle cell disease and related diseases1Mar 6, 2020
Sickle cell-Hemoglobin O Arab disease1Jan 25, 2018
Sitosterolemia 11Apr 19, 2022
Sjögren-Larsson syndrome25Dec 26, 2023
Skin creases, congenital symmetric circumferential, 21Apr 24, 2019
Skraban-Deardorff syndrome1Apr 29, 2020
Smith-Lemli-Opitz syndrome42Jun 21, 2023
Smith-Magenis syndrome3Dec 26, 2023
Sotos syndrome3Oct 27, 2023
Spastic paraplegia 85, autosomal recessive1Apr 14, 2023
Spastic paraplegia-severe developmental delay-epilepsy syndrome1Apr 3, 2024
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome2Oct 2, 2023
Sphingomyelin/cholesterol lipidosis21Oct 27, 2023
Spinal muscular atrophy7Oct 2, 2023
Spinocerebellar ataxia 471Mar 6, 2020
Spinocerebellar ataxia type 111Aug 25, 2023
Spinocerebellar ataxia type 19/222Oct 27, 2023
Spinocerebellar ataxia type 271Nov 10, 2022
Spinocerebellar ataxia type 281Jul 15, 2022
Spinocerebellar ataxia type 291Jun 21, 2023
Spinocerebellar ataxia type 351Sep 14, 2022
Spinocerebellar ataxia type 52Dec 14, 2022
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21Aug 25, 2023
Spondylocostal dysostosis 1, autosomal recessive1Apr 24, 2019
Spondylocostal dysostosis 2, autosomal recessive2Jun 21, 2023
Spondyloepimetaphyseal dysplasia, Genevieve type1Jan 26, 2024
Spondyloperipheral dysplasia1Jul 29, 2022
Stargardt disease10Nov 14, 2023
Steel syndrome2Oct 27, 2023
Stickler syndrome1Apr 29, 2020
Stuve-Wiedemann syndrome1Apr 14, 2023
Stüve-Wiedemann syndrome 11Apr 19, 2022
Succinate-semialdehyde dehydrogenase deficiency4Oct 2, 2023
Sucrase-isomaltase deficiency3Nov 14, 2023
Sudden cardiac failure, infantile2Sep 14, 2022
Suleiman-El-Hattab syndrome1Jan 11, 2023
Sulfate transporter-related osteochondrodysplasia18Jan 11, 2023
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A2Jun 21, 2023
Sulfocysteinuria8Feb 19, 2024
Supravalvar aortic stenosis1Dec 2, 2020
Syndromic X-linked intellectual disability 343Apr 3, 2024
Syndromic X-linked intellectual disability Claes-Jensen type1Jul 15, 2022
TAFAZZIN-Related Disorders1Apr 14, 2023
TARP syndrome1Feb 6, 2023
TBC1D24-Related Disorders3Apr 3, 2024
TBCE-Related Disorder1Oct 13, 2022
TBCE-Related Disorders1Sep 14, 2022
TFG-Related Disorders1Dec 26, 2023
TG-Related Disorders3Oct 27, 2023
TOP3A-Related Disorders1Feb 19, 2024
TRIO-Related Disorders2Oct 27, 2023
TRIP4-Related Disorders2Oct 2, 2023
TRNT1-Related Disorders3Oct 2, 2023
Tangier disease1Feb 19, 2024
Tay-Sachs disease68Nov 14, 2023
Temtamy syndrome1Oct 13, 2022
Testosterone 17-beta-dehydrogenase deficiency1Aug 25, 2023
Thanatophoric dysplasia1Jul 25, 2023
Thrombocytopenia 15Apr 14, 2023
Thrombocytopenia 21Jul 15, 2022
Thrombocytopenia 51Feb 6, 2023
Thrombophilia due to thrombin defect1Mar 16, 2023
Thrombotic thrombocytopenic purpura2Jan 26, 2024
Thyroglobulin synthesis defect2Oct 2, 2023
Thyroid dyshormonogenesis 64Oct 2, 2023
Thyroid hormone metabolism, abnormal 11Oct 2, 2023
Thyroid hormone resistance, generalized, autosomal dominant17Apr 3, 2024
Treacher Collins syndrome 11Feb 19, 2024
Trichohepatoenteric syndrome18Jan 26, 2024
Trichothiodystrophy2Feb 19, 2024
Trimethylaminuria8Feb 19, 2024
Tuberous sclerosis syndrome12Apr 3, 2024
Tumoral calcinosis, hyperphosphatemic, familial, 11Nov 14, 2023
Type II complement component 8 deficiency1Apr 3, 2024
Tyrosinase-positive oculocutaneous albinism1Sep 14, 2022
Tyrosinemia type I20Feb 19, 2024
Tyrosinemia type II3Aug 25, 2023
Tyrosinemia type III4May 17, 2023
UBA5-Related Disorders1Aug 25, 2023
UDPglucose-4-epimerase deficiency5Jun 21, 2023
UROD-Related Disorders2Feb 19, 2024
Ullrich congenital muscular dystrophy 1A5Feb 19, 2024
Uncombable hair syndrome 31May 17, 2023
Unverricht-Lundborg syndrome1Oct 13, 2022
Usher syndrome158Apr 3, 2024
Usher syndrome type 1F25Dec 26, 2023
Usher syndrome type 34Apr 24, 2019
VSX2-related Microphthalmia1Oct 2, 2023
Vanishing white matter disease25Jan 26, 2024
Vasculitis due to ADA2 deficiency3Feb 19, 2024
Very long chain acyl-CoA dehydrogenase deficiency51Apr 3, 2024
Vici syndrome3Apr 3, 2024
Vitamin D hydroxylation-deficient rickets, type 1B1Feb 6, 2023
Vitamin D-dependent rickets type II with alopecia1Jan 26, 2024
Vitamin D-dependent rickets, type 1A2Oct 2, 2023
Von Hippel-Lindau syndrome68Feb 19, 2024
WARS2-Related Disorders2Aug 25, 2023
WDR35-Related Disorders1Dec 14, 2022
Waardenburg syndrome type 21Feb 19, 2024
Waardenburg syndrome type 2E2Mar 16, 2023
Warsaw breakage syndrome2Nov 14, 2023
Werner syndrome7Jan 26, 2024
Wiedemann-Steiner syndrome1Feb 19, 2024
Wilms tumor 11May 17, 2023
Wilson disease183Feb 19, 2024
Wiskott-Aldrich syndrome18Apr 14, 2023
Wolcott-Rallison dysplasia1Dec 26, 2023
Wolfram syndrome 18Nov 14, 2023
Wolfram syndrome 21Jul 25, 2023
Wolman disease10Aug 25, 2023
X-linked Alport syndrome19Apr 3, 2024
X-linked Opitz G/BBB syndrome1Jun 17, 2021
X-linked agammaglobulinemia34Dec 26, 2023
X-linked intellectual disability, Cantagrel type2Apr 19, 2022
X-linked intellectual disability-cerebellar hypoplasia syndrome1Jan 11, 2023
X-linked lymphoproliferative syndrome2Apr 24, 2019
X-linked severe combined immunodeficiency14Jul 29, 2022
X-linked severe congenital neutropenia1Dec 31, 2020
Xeroderma pigmentosum73Jan 26, 2024
YTHDF3-Related Disorders1Jun 21, 2023
Yoon-Bellen neurodevelopmental syndrome1May 17, 2023
alpha Thalassemia8Jan 26, 2024
beta Thalassemia92Apr 3, 2024
not provided2633Jan 25, 2018
not specified31223Apr 3, 2024
von Willebrand disorder2Apr 3, 2024