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New York Genome Center, NYGC

General information

New York Genome Center, NYGC

101 Avenue of the Americas
New York
New York
United States - 10013
http://www.nygenome.org
Organization ID: 507558

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 4816

Gene

GeneSubmissionsLast Updated
A2ML11Dec 4, 2020
AASS1May 17, 2021
ABCA121Nov 22, 2023
ABCA23Aug 17, 2022
ABCC61May 5, 2022
ABCC825Mar 8, 2024
ABCC91Feb 17, 2022
ABCD11Jul 6, 2022
ABCG518Sep 15, 2023
ABCG817Sep 15, 2023
ABHD14A-ACY12Jul 6, 2022
ACADM1May 5, 2022
ACADS1Jul 6, 2022
ACADSB3Jul 22, 2021
ACADVL1Jul 6, 2022
ACAN3May 15, 2024
ACBD61Aug 30, 2021
ACIN11May 1, 2023
ACOT12Sep 15, 2023
ACOX12Nov 22, 2023
ACOX21Nov 21, 2021
ACSL43Jul 6, 2022
ACTB2Feb 17, 2022
ACTG22May 15, 2024
ACTL6B3May 5, 2022
ACTN21Oct 13, 2020
ACVRL11Aug 17, 2022
ACY12Jul 6, 2022
ADA21Jul 22, 2021
ADAM171May 17, 2021
ADAM221Dec 4, 2020
ADAMTS171Nov 22, 2023
ADAMTS191Jul 6, 2022
ADAR1Feb 5, 2021
ADD31Oct 13, 2020
ADGRG12May 5, 2022
ADGRV113Aug 17, 2022
ADNP3Jul 6, 2022
ADRA2B4Feb 24, 2022
ADSL2Feb 24, 2022
AFF21May 5, 2022
AFF33Jul 6, 2022
AFF47May 1, 2023
AFG2A4Feb 17, 2022
AGBL41Feb 24, 2022
AGK1Jul 31, 2020
AGMO5Aug 17, 2022
AGO13Nov 22, 2023
AGO22Aug 17, 2022
AGPAT28May 1, 2023
AHDC14May 5, 2022
AHI11Aug 30, 2021
AHNAK21Feb 17, 2022
AICDA2Feb 17, 2022
AIRE3May 17, 2021
AKAP62Feb 5, 2021
AKNA1Jul 6, 2022
AKR1C81Nov 22, 2023
AKT22Nov 22, 2023
AKT31Feb 24, 2022
ALDH18A12May 5, 2022
ALDH5A15Feb 24, 2022
ALDH7A13Feb 17, 2022
ALDOB1Nov 21, 2021
ALG13Nov 21, 2021
ALG111Nov 21, 2021
ALG31Dec 4, 2020
ALG93Nov 21, 2021
ALKBH82Nov 21, 2021
ALMS141Nov 22, 2023
ALPK31Sep 15, 2023
AMACR1Jul 31, 2020
AMOT1Sep 15, 2023
AMT1Oct 13, 2020
ANGPTL34Sep 15, 2023
ANK215Jul 6, 2022
ANK315Sep 15, 2023
ANKRD11Feb 17, 2022
ANKRD1125Sep 15, 2023
ANO32Sep 15, 2023
ANXA11Feb 24, 2022
AOPEP1May 15, 2024
AP1S21Feb 5, 2021
AP2M11Oct 13, 2020
AP3B25May 5, 2022
AP4M11Oct 13, 2020
AP4S11May 17, 2021
APC2Nov 22, 2023
APC23Jul 22, 2021
APOA11Dec 5, 2022
APOA52May 1, 2023
APOB57May 15, 2024
APOC23May 1, 2023
APOC32Dec 5, 2022
APOC4-APOC23May 1, 2023
APOE4May 1, 2023
ARFGEF11Nov 22, 2023
ARFGEF1-DT3Aug 17, 2022
ARFGEF21Oct 13, 2020
ARHGEF152May 17, 2021
ARHGEF401Aug 17, 2022
ARHGEF61Aug 17, 2022
ARHGEF92Jul 22, 2021
ARID1A16May 15, 2024
ARID1B14Aug 17, 2022
ARID23Aug 17, 2022
ARL62Sep 15, 2023
ARMCX41Nov 22, 2023
ARNT22Feb 17, 2022
ARPC1B1Aug 30, 2021
ARPIN1Sep 3, 2020
ARPIN-AP3S21Sep 3, 2020
ARX1May 17, 2021
ASH1L13Aug 17, 2022
ASIC4-AS11Sep 3, 2020
ASL1Aug 17, 2022
ASPM5May 5, 2022
ASS11Jul 6, 2022
ASTN24Sep 15, 2023
ASXL13Aug 17, 2022
ASXL24Feb 24, 2022
ASXL310Nov 22, 2023
ATAD3A6May 15, 2024
ATM2May 5, 2022
ATN12Jul 6, 2022
ATP10B1Jul 6, 2022
ATP1A11Nov 22, 2023
ATP1A24Jul 6, 2022
ATP1A31Jul 6, 2022
ATP2A23Feb 24, 2022
ATP2B21Jul 6, 2022
ATP2B31Nov 22, 2023
ATP6V0A12May 5, 2022
ATP6V0A21May 17, 2021
ATP6V1A4May 5, 2022
ATP7A3Nov 22, 2023
ATP8A22Jul 22, 2021
ATPAF22Jul 6, 2022
ATR1May 17, 2021
ATRIP3Feb 24, 2022
ATRIP-TREX13Feb 24, 2022
ATRX8Aug 17, 2022
AUTS211Jul 6, 2022
AVEN4Feb 24, 2022
B9D12Feb 5, 2021
B9D21Feb 17, 2022
BAG32Dec 5, 2022
BAP11Nov 22, 2023
BAZ2A1Aug 17, 2022
BAZ2B5May 1, 2023
BBIP11Dec 5, 2022
BBS19Nov 22, 2023
BBS103Sep 15, 2023
BBS126Sep 15, 2023
BBS26Nov 22, 2023
BBS46May 1, 2023
BBS54Nov 22, 2023
BBS75Nov 22, 2023
BBS99May 1, 2023
BCKDHA1Feb 24, 2022
BCKDK1Jul 31, 2020
BCL11A2Jul 6, 2022
BCL11B1Sep 3, 2020
BCOR3Jul 6, 2022
BCORL12Aug 30, 2021
BDP12Jul 6, 2022
BICRA4Aug 17, 2022
BICRA-AS21Feb 17, 2022
BLM1Feb 24, 2022
BLNK1Jul 6, 2022
BLOC1S61Feb 24, 2022
BLTP12May 5, 2022
BMAL11Feb 17, 2022
BMP22Sep 15, 2023
BOD11Oct 13, 2020
BPTF6Jul 6, 2022
BRAF2Aug 17, 2022
BRAT15Jul 6, 2022
BRCA16May 15, 2024
BRCA28May 15, 2024
BRD43Feb 17, 2022
BRPF15Sep 15, 2023
BRS31Aug 17, 2022
BRSK22Jul 6, 2022
BRWD11Feb 24, 2022
BSCL26Nov 22, 2023
BTD2May 5, 2022
C10orf551Jul 6, 2022
C11orf651May 5, 2022
C12orf571Feb 5, 2021
C12orf602Jul 6, 2022
C17orf1071Feb 17, 2022
C1QTNF3-AMACR1Jul 31, 2020
C1orf1051Feb 5, 2021
C22orf312Oct 13, 2020
C2CD31Aug 30, 2021
C51Feb 24, 2022
C61Feb 5, 2021
C8B1Jul 6, 2022
CABLES21Jul 6, 2022
CACNA1A17Sep 15, 2023
CACNA1B9Feb 17, 2022
CACNA1C12Nov 22, 2023
CACNA1C-AS12Nov 21, 2021
CACNA1C-AS41Sep 15, 2023
CACNA1D7Aug 17, 2022
CACNA1E14Aug 17, 2022
CACNA1G7Feb 24, 2022
CACNA1H18Nov 22, 2023
CACNA1I1Nov 22, 2023
CACNA1S1Nov 22, 2023
CACNA2D25Jul 6, 2022
CACNB42Feb 24, 2022
CACNG22Aug 17, 2022
CAD3Aug 30, 2021
CALM21May 1, 2023
CALM31May 1, 2023
CALN11Jul 6, 2022
CAMK2A2Jul 6, 2022
CAMK2B3Jul 6, 2022
CAMK2G1Aug 30, 2021
CAMTA111May 15, 2024
CAP21May 5, 2022
CAPRIN11May 17, 2021
CARD111Nov 21, 2021
CARD142Jul 6, 2022
CARS21Feb 17, 2022
CASP82Jul 22, 2021
CASQ23Nov 22, 2023
CASR1Feb 24, 2022
CAST7Nov 22, 2023
CASZ11May 5, 2022
CATIP-AS21Jul 22, 2021
CAV14Sep 15, 2023
CBL6Nov 22, 2023
CBS1Feb 17, 2022
CC2D1A3Feb 17, 2022
CC2D2A4May 5, 2022
CCDC1412Feb 17, 2022
CCDC301May 5, 2022
CCDC392Feb 17, 2022
CCDC85C2May 5, 2022
CCDC88C3Aug 17, 2022
CCDST3Feb 17, 2022
CCM21Jul 6, 2022
CCNK2May 5, 2022
CCR91Sep 15, 2023
CCSER11Aug 17, 2022
CD3G1Jul 22, 2021
CD79A1Jul 6, 2022
CDC42BPB5Feb 24, 2022
CDH153Feb 17, 2022
CDH24Sep 15, 2023
CDH232Feb 24, 2022
CDH42Jul 6, 2022
CDK135Jul 6, 2022
CDK161Sep 3, 2020
CDK191Jul 6, 2022
CDK81Feb 17, 2022
CDKL52Nov 21, 2021
CDKN1C2Jul 6, 2022
CDSN1Jul 22, 2021
CEBPE1May 5, 2022
CEL9Nov 22, 2023
CELSR11Jul 6, 2022
CENPJ2Jul 6, 2022
CEP1201Jul 6, 2022
CEP1351Feb 17, 2022
CEP1521Feb 24, 2022
CEP191May 1, 2023
CEP29024Sep 15, 2023
CEP85L3Dec 5, 2022
CERT12Feb 5, 2021
CFAP732Nov 21, 2021
CFHR51Feb 17, 2022
CFTR2May 15, 2024
CHAMP13Aug 17, 2022
CHD16May 5, 2022
CHD1L1Aug 30, 2021
CHD27Aug 17, 2022
CHD313May 15, 2024
CHD43Sep 15, 2023
CHD54Aug 17, 2022
CHD712May 15, 2024
CHD87Jul 6, 2022
CHMP1A1Jul 22, 2021
CHRM31Jul 6, 2022
CHRNA25Jul 6, 2022
CHRNA44Aug 17, 2022
CHRNB11Feb 24, 2022
CHRNB26Jul 6, 2022
CHRND1May 5, 2022
CHRNE2Feb 17, 2022
CHRNG1Oct 13, 2020
CIC20Aug 17, 2022
CIITA2Jul 22, 2021
CILK13Jul 6, 2022
CIT1Oct 13, 2020
CLASP12Oct 13, 2020
CLCN12May 5, 2022
CLCN21Feb 24, 2022
CLCN43Jul 6, 2022
CLCN72Feb 17, 2022
CLIP13Jul 6, 2022
CLN32Feb 17, 2022
CLN85Feb 24, 2022
CLPB1Feb 17, 2022
CLTC4Jul 6, 2022
CNKSR23Aug 30, 2021
CNNM23Aug 17, 2022
CNOT13Jul 6, 2022
CNOT32Feb 24, 2022
CNTN23Feb 17, 2022
CNTN41May 5, 2022
CNTN51Feb 24, 2022
CNTN61Jul 6, 2022
CNTNAP210Aug 17, 2022
COASY1Feb 5, 2021
COG21Feb 5, 2021
COG42Feb 17, 2022
COG81May 17, 2021
COL11A15May 15, 2024
COL12A12Nov 22, 2023
COL18A15Nov 22, 2023
COL1A12May 15, 2024
COL2A11Sep 15, 2023
COL3A11May 1, 2023
COL4A16Nov 22, 2023
COL4A215Nov 22, 2023
COL4A2-AS12Nov 21, 2021
COL4A2-AS21Jul 6, 2022
COL4A31Nov 21, 2021
COL5A12Nov 22, 2023
COL5A22May 15, 2024
COL6A31Nov 21, 2021
COQ41Aug 17, 2022
COQ61May 5, 2022
COX151Nov 21, 2021
COX201Jul 22, 2021
CPA69Aug 17, 2022
CPEB1-AS14May 5, 2022
CPLANE12Feb 17, 2022
CPS12Feb 24, 2022
CPT23May 15, 2024
CR22Feb 24, 2022
CRAT2Feb 17, 2022
CRB21May 5, 2022
CREBBP15Aug 17, 2022
CRYM1Feb 5, 2021
CSDE11Jul 6, 2022
CSF1R1Feb 17, 2022
CSMD32May 5, 2022
CSNK1G11Feb 17, 2022
CSNK2B2May 5, 2022
CSPP11Nov 21, 2021
CSTB1Feb 24, 2022
CTBP11Jul 6, 2022
CTBP1-AS1Jul 6, 2022
CTC13Aug 17, 2022
CTCF3Sep 15, 2023
CTLA41Feb 5, 2021
CTNNA34Nov 22, 2023
CTNNB11Jul 22, 2021
CTNND22Aug 17, 2022
CTSA1Jul 31, 2020
CTSD1Jul 31, 2020
CUBN4Aug 17, 2022
CUL31May 5, 2022
CUL4B2May 1, 2023
CUTA1May 5, 2022
CUX15Aug 17, 2022
CUX26Jul 6, 2022
CWF19L12Feb 5, 2021
CYBB1Sep 15, 2023
CYLD-AS11Feb 24, 2022
CYP21A21Oct 13, 2020
CYP27A11May 5, 2022
D2HGDH2Jul 6, 2022
DAG11Oct 13, 2020
DALRD31Feb 24, 2022
DARS12Jul 6, 2022
DBH1May 15, 2024
DCLRE1C1May 17, 2021
DCN1May 5, 2022
DDX102May 5, 2022
DDX231Aug 17, 2022
DDX3X1Oct 13, 2020
DDX544Nov 21, 2021
DDX62Aug 17, 2022
DEAF16Feb 24, 2022
DENND5A5May 5, 2022
DEPDC511May 15, 2024
DEPDC71Dec 4, 2020
DES4Sep 15, 2023
DGAT11Jul 6, 2022
DGCR21Aug 17, 2022
DHCR241Jul 22, 2021
DHCR77May 15, 2024
DHDDS2May 17, 2021
DHX161Jul 6, 2022
DHX306May 5, 2022
DHX345Feb 17, 2022
DHX374May 5, 2022
DHX582Aug 17, 2022
DIAPH13Sep 15, 2023
DIP2B1Feb 24, 2022
DISP11Nov 21, 2021
DLG31Jul 6, 2022
DLG43Jul 6, 2022
DLL16Aug 17, 2022
DMD4May 5, 2022
DMXL22Feb 24, 2022
DNAH11Nov 21, 2021
DNAH116May 15, 2024
DNAH145Aug 17, 2022
DNAH58May 15, 2024
DNAH92Nov 21, 2021
DNAJC121Jul 6, 2022
DNAJC51Sep 3, 2020
DNHD16Feb 24, 2022
DNM12Feb 24, 2022
DNMT12May 5, 2022
DNMT3A8Sep 15, 2023
DOCK31Nov 21, 2021
DOCK78Sep 15, 2023
DOCK85Feb 24, 2022
DOK72May 5, 2022
DONSON2Feb 24, 2022
DOP1A1Feb 24, 2022
DOP1B1Oct 13, 2020
DPF21Aug 30, 2021
DPP65Aug 17, 2022
DPYD1May 17, 2021
DPYS1Aug 17, 2022
DRD21Jul 6, 2022
DSC22May 1, 2023
DSCAM2Nov 21, 2021
DSG22May 1, 2023
DSG2-AS11Aug 17, 2022
DSP11Nov 22, 2023
DSPP1Jul 6, 2022
DTNA1Sep 15, 2023
DUOX22May 5, 2022
DUSP291Jul 31, 2020
DYM1Aug 30, 2021
DYNC1H118May 15, 2024
DYNC2LI114Sep 15, 2023
DYRK1A2Feb 17, 2022
DYRK1B5Nov 22, 2023
EBF31Jul 22, 2021
ECE11Feb 24, 2022
EEF1A22May 5, 2022
EEF1D1May 5, 2022
EEF22Aug 17, 2022
EEF2KMT1Jul 22, 2021
EFHC14Feb 24, 2022
EFTUD23May 5, 2022
EHMT17May 5, 2022
EIF2AK11May 5, 2022
EIF2AK22Jul 6, 2022
EIF2AK36Sep 15, 2023
EIF2B11Jul 31, 2020
EIF3F2Feb 5, 2021
EIF4A21Nov 22, 2023
ELN1May 5, 2022
ELN-AS11May 5, 2022
EMC14Nov 22, 2023
EMC1-AS13Nov 22, 2023
EMX24Jul 6, 2022
EMX2OS4Jul 6, 2022
ENG1Dec 4, 2020
ENTPD51May 5, 2022
EP3007Aug 17, 2022
EPB41L11Feb 17, 2022
EPG54Feb 24, 2022
EPHB42Aug 17, 2022
EPM2A2Oct 13, 2020
EPM2A-DT1Oct 13, 2020
ERBB42Aug 17, 2022
ERCC6L21Aug 17, 2022
ERF2Jul 6, 2022
ERMARD3Feb 17, 2022
EXOC21Jul 6, 2022
EXOC3L21May 15, 2024
EXOC3L41Feb 24, 2022
EXOC73Aug 17, 2022
EXOSC31Jul 22, 2021
EXOSC51Aug 17, 2022
EXT21Aug 30, 2021
EXTL31Feb 5, 2021
EYA11May 15, 2024
EYA41Sep 15, 2023
EZH21May 17, 2021
F111Dec 4, 2020
F81May 15, 2024
FAAH21Jul 31, 2020
FANCC2May 15, 2024
FANCD21Feb 17, 2022
FAS1May 5, 2022
FASN2Nov 21, 2021
FBLIM11May 17, 2021
FBN14Nov 22, 2023
FBN21Sep 15, 2023
FBRSL11May 5, 2022
FBXO113Jul 6, 2022
FBXO281May 5, 2022
FDFT11Feb 5, 2021
FGD11May 15, 2024
FGF124Jul 6, 2022
FGF31Sep 15, 2023
FGFR23Aug 17, 2022
FGFR32May 15, 2024
FH1May 5, 2022
FHOD33Nov 22, 2023
FIG42Sep 15, 2023
FKRP2Nov 22, 2023
FKTN2Sep 15, 2023
FLG3Feb 17, 2022
FLNA10Nov 22, 2023
FLNB5Nov 22, 2023
FLNB-AS11May 5, 2022
FLNC7Nov 22, 2023
FLNC-AS11Nov 22, 2023
FLT42May 15, 2024
FMN22Nov 21, 2021
FMR11Aug 17, 2022
FOXA21May 1, 2023
FOXC21May 15, 2024
FOXF11May 15, 2024
FOXN11Feb 24, 2022
FOXP17Aug 17, 2022
FOXP23Jul 22, 2021
FOXP31May 1, 2023
FOXRED11Jul 6, 2022
FPGT-TNNI3K2Sep 15, 2023
FREM11Dec 4, 2020
FRMPD44Aug 17, 2022
FRRS1L3Jul 6, 2022
FRYL1Jul 6, 2022
FTO1Jul 22, 2021
FXYD21Jul 6, 2022
FXYD6-FXYD21Jul 6, 2022
FZD21May 17, 2021
G6PD4May 15, 2024
GABBR23May 5, 2022
GABRA15Jul 6, 2022
GABRA22Feb 24, 2022
GABRA41May 1, 2023
GABRA52Jul 6, 2022
GABRA62Nov 21, 2021
GABRB11Dec 4, 2020
GABRB22Jul 6, 2022
GABRB34Aug 17, 2022
GABRD5Aug 17, 2022
GABRE1Aug 17, 2022
GABRG23Feb 17, 2022
GAL2Feb 24, 2022
GALNT21Dec 5, 2022
GAMT2Jul 6, 2022
GAREM21May 15, 2024
GATA61May 17, 2021
GATAD11Dec 5, 2022
GATAD2B2Aug 17, 2022
GATM1May 17, 2021
GCH11Oct 13, 2020
GCK6Sep 15, 2023
GDF21Dec 5, 2022
GEMIN41Feb 24, 2022
GFAP2Feb 17, 2022
GFPT11May 5, 2022
GGA21Feb 24, 2022
GGCX1May 5, 2022
GHR1Nov 22, 2023
GHRL1Jul 6, 2022
GHRLOS1Jul 6, 2022
GIGYF11Feb 24, 2022
GJA11May 15, 2024
GJA31May 5, 2022
GJB23Sep 15, 2023
GK1May 5, 2022
GLDC4Feb 24, 2022
GLI29Aug 17, 2022
GLI34May 15, 2024
GLIS315May 1, 2023
GLRA13Aug 17, 2022
GLS2Feb 24, 2022
GLUD13Jul 6, 2022
GMPPA1Sep 3, 2020
GMPPB1Feb 17, 2022
GNAI11Aug 17, 2022
GNAO14Jul 6, 2022
GNAS16Sep 15, 2023
GNAS-AS13May 1, 2023
GNB13Jul 6, 2022
GNB21Jul 6, 2022
GNE1Jul 31, 2020
GPAA11May 17, 2021
GPHN1Oct 13, 2020
GPIHBP14Sep 15, 2023
GRHL31May 15, 2024
GRIA12Feb 17, 2022
GRIA21May 17, 2021
GRIA42Jul 6, 2022
GRIK23Aug 17, 2022
GRIN11May 5, 2022
GRIN2A14Aug 17, 2022
GRIN2B10Aug 17, 2022
GRIN2D8Aug 17, 2022
GRIP11Sep 3, 2020
GRM41Aug 17, 2022
GRM72Feb 24, 2022
GRN1Feb 5, 2021
GSN1Nov 22, 2023
GTF2IRD11Aug 17, 2022
GTPBP32Oct 13, 2020
GUCY2C2Jul 6, 2022
GUF11Feb 17, 2022
GUSB1Feb 24, 2022
GYG21May 5, 2022
GYS11May 5, 2022
GYS21May 15, 2024
H1-41Jul 6, 2022
HADHA1May 15, 2024
HBA-LCR7May 5, 2022
HBB4Jul 6, 2022
HCFC13Feb 24, 2022
HCN15May 5, 2022
HCN23May 5, 2022
HCN44Nov 22, 2023
HDAC41May 5, 2022
HDAC51Nov 22, 2023
HDAC81May 5, 2022
HEATR42Sep 15, 2023
HECTD11May 5, 2022
HECW23Jul 6, 2022
HEPACAM2Nov 22, 2023
HERC15Nov 21, 2021
HERC25Jul 6, 2022
HEXA1May 5, 2022
HEXB1Oct 13, 2020
HFE2Nov 22, 2023
HFE-AS11Nov 22, 2023
HGSNAT2Feb 5, 2021
HIVEP212Aug 17, 2022
HIVEP31Feb 17, 2022
HK14Jul 6, 2022
HMBS1Feb 17, 2022
HMGB11Aug 17, 2022
HMGCS21Feb 24, 2022
HNF1A6Sep 15, 2023
HNF1B5May 1, 2023
HNF4A4Sep 15, 2023
HNMT2May 1, 2023
HNRNPK3Sep 15, 2023
HNRNPR1May 17, 2021
HNRNPU4Feb 24, 2022
HNRNPUL2-BSCL26Nov 22, 2023
HRAS1Nov 22, 2023
HS6ST23Aug 30, 2021
HSALR11May 15, 2024
HSD17B101Feb 5, 2021
HSD17B42May 5, 2022
HSD3B71Feb 24, 2022
HSPG22Aug 17, 2022
HTRA11May 5, 2022
HUS1B1Jul 6, 2022
HUWE110Aug 17, 2022
HYDIN2Jul 22, 2021
HYI1Jul 6, 2022
IAH11May 17, 2021
IARS11Sep 3, 2020
ICE22Jul 31, 2020
IDS1Nov 22, 2023
IER3IP11Aug 30, 2021
IFIH16May 15, 2024
IFNAR21Aug 17, 2022
IFNAR2-IL10RB1Aug 17, 2022
IFT1401Nov 22, 2023
IFT17213Sep 15, 2023
IFT744May 1, 2023
IGDCC41Feb 24, 2022
IGF11Dec 5, 2022
IGF1R1Dec 4, 2020
IGLL13Feb 17, 2022
IGSF11Feb 17, 2022
IKBKG2Feb 24, 2022
IKZF12Feb 24, 2022
IL12RB13Nov 21, 2021
IL17RA2Jul 6, 2022
IL1RAPL13Jul 6, 2022
IL2RA1Jul 6, 2022
IL6ST1Jul 22, 2021
ILK1Nov 22, 2023
INAVA1Jul 6, 2022
INO801Jul 22, 2021
INS2Dec 5, 2022
INS-IGF22Dec 5, 2022
INTS14Feb 24, 2022
INTU1Feb 17, 2022
IQSEC11Oct 13, 2020
IQSEC23Aug 17, 2022
IRAK1BP12May 1, 2023
IRF2BPL13Aug 17, 2022
IRX51Jul 6, 2022
ITIH61Oct 13, 2020
ITPA1Sep 3, 2020
ITPR17May 1, 2023
ITPR31Sep 15, 2023
IVD1Feb 5, 2021
IVNS1ABP1Nov 22, 2023
JADE21Jul 6, 2022
JAG11Feb 17, 2022
JAK11Feb 24, 2022
JARID24Jul 6, 2022
JMJD1C10Jul 6, 2022
JPH21Nov 22, 2023
JUP2May 1, 2023
KANSL13Jul 6, 2022
KAT51May 5, 2022
KAT6A5Jul 6, 2022
KAT6B6Jul 6, 2022
KAT82Nov 22, 2023
KATNAL25Nov 21, 2021
KATNIP3Feb 24, 2022
KCNA22Feb 17, 2022
KCNA51Sep 15, 2023
KCNAB21Feb 5, 2021
KCNB17Aug 17, 2022
KCNC31May 5, 2022
KCND21Jul 6, 2022
KCND31Feb 24, 2022
KCNE12May 1, 2023
KCNE22May 1, 2023
KCNH12Feb 17, 2022
KCNH29Nov 22, 2023
KCNH53May 17, 2021
KCNJ12Feb 17, 2022
KCNJ103May 17, 2021
KCNJ112Sep 15, 2023
KCNJ41Aug 17, 2022
KCNJ61Feb 24, 2022
KCNK181Jul 6, 2022
KCNMA114Jul 6, 2022
KCNMA1-AS12Jul 6, 2022
KCNN21Feb 24, 2022
KCNN32May 5, 2022
KCNQ115May 15, 2024
KCNQ1-AS12May 15, 2024
KCNQ1OT12Feb 24, 2022
KCNQ27Aug 17, 2022
KCNQ36Jul 6, 2022
KCNQ57Aug 17, 2022
KCNQ5-DT2Jul 6, 2022
KCNT113Aug 17, 2022
KCNT24May 5, 2022
KCTD71Aug 30, 2021
KDM3B2Jul 22, 2021
KDM4B1May 5, 2022
KDM5A3Aug 17, 2022
KDM5B4Feb 17, 2022
KDM5C5Aug 30, 2021
KDM6A2Jul 6, 2022
KDM6B11Aug 17, 2022
KIAA05862Aug 17, 2022
KIDINS22011Nov 22, 2023
KIF112Aug 30, 2021
KIF16B4Feb 28, 2022
KIF1A12Nov 22, 2023
KIF21B3May 5, 2022
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LRP51Jul 6, 2022
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LRPPRC4Feb 24, 2022
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LZTR14Jul 6, 2022
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MAG1Feb 17, 2022
MAGEL218Nov 22, 2023
MAGT11Feb 5, 2021
MAK161May 17, 2021
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MAN2B11Feb 24, 2022
MANBA1Nov 21, 2021
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MAP22May 5, 2022
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MATR31May 5, 2022
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MDGA21Jul 31, 2020
MDH21May 17, 2021
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MED137Jul 6, 2022
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MED231Dec 4, 2020
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MEF2D1Jul 22, 2021
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MEIS22Jul 6, 2022
MEN11Dec 5, 2022
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MHRT1May 5, 2022
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MID15May 15, 2024
MILR12Feb 24, 2022
MIR68861May 15, 2024
MKKS6Sep 15, 2023
MKS111Sep 15, 2023
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MMACHC2Nov 22, 2023
MMP91Feb 24, 2022
MN12Jul 6, 2022
MORC22Aug 17, 2022
MOV101Feb 24, 2022
MRE112May 15, 2024
MRPL361Oct 13, 2020
MRPS23Jul 22, 2021
MSH22Feb 17, 2022
MSH62Jul 6, 2022
MSL33Feb 17, 2022
MSS511May 17, 2021
MT-CYB1Jul 6, 2022
MT-ND11May 15, 2024
MT-ND31Aug 17, 2022
MT-RNR12May 15, 2024
MT-TI1Feb 24, 2022
MT-TL11May 15, 2024
MT-TS11May 15, 2024
MTHFR2Jul 6, 2022
MTOR6Jul 6, 2022
MTOR-AS11Aug 30, 2021
MTR2Feb 17, 2022
MTRR1May 17, 2021
MTTP9Nov 22, 2023
MVD1Feb 24, 2022
MVP-DT2Feb 24, 2022
MYBPC12May 17, 2021
MYBPC39May 1, 2023
MYD882Feb 17, 2022
MYH102May 5, 2022
MYH112May 15, 2024
MYH141Sep 15, 2023
MYH32Sep 3, 2020
MYH65Nov 22, 2023
MYH79Nov 22, 2023
MYH93Sep 15, 2023
MYL31Dec 5, 2022
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MYLK1Nov 22, 2023
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MYO18B1Jul 6, 2022
MYO191May 5, 2022
MYO3A1Nov 21, 2021
MYO61Feb 24, 2022
MYO7A3Feb 24, 2022
MYO9A1Aug 30, 2021
MYOCD1May 15, 2024
MYPN2Nov 22, 2023
MYRF6May 15, 2024
MYT1L7Jul 6, 2022
MYT1L-AS11May 5, 2022
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NAA156Aug 17, 2022
NAA381May 5, 2022
NACC13May 5, 2022
NAGLU5Feb 17, 2022
NALCN10Feb 24, 2022
NALCN-AS12Feb 24, 2022
NARS12May 5, 2022
NARS21Feb 17, 2022
NAT101Feb 17, 2022
NBEA18Jul 6, 2022
NBEAL11Jul 31, 2020
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NCAPG22May 5, 2022
NCF41Nov 21, 2021
NCKAP13Jul 6, 2022
NCOR13May 5, 2022
NCSTN1Feb 17, 2022
NDE11Nov 22, 2023
NDST11Sep 3, 2020
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NDUFA61May 17, 2021
NDUFA91Feb 5, 2021
NDUFAF11Aug 30, 2021
NDUFS61Oct 13, 2020
NDUFS71Oct 13, 2020
NDUFV11Feb 5, 2021
NEB2Nov 22, 2023
NEBL3Sep 15, 2023
NECAP11Jul 31, 2020
NEDD4L6Aug 17, 2022
NEMF1Jul 6, 2022
NEUROD11Dec 5, 2022
NEUROD22Aug 17, 2022
NEXMIF7Jul 6, 2022
NF17Nov 22, 2023
NF23Jul 6, 2022
NFASC5Aug 17, 2022
NFAT51Jul 6, 2022
NFIB3May 5, 2022
NFIB-AS11May 5, 2022
NFIX3Sep 15, 2023
NFKB11Feb 24, 2022
NGLY11Nov 21, 2021
NHEJ11May 5, 2022
NHLRC12Jul 6, 2022
NHS2Jul 6, 2022
NID13Nov 21, 2021
NIPBL9May 15, 2024
NIPSNAP3B4Sep 15, 2023
NKAP1Sep 15, 2023
NKX2-52Sep 15, 2023
NLGN11Sep 3, 2020
NLGN21May 5, 2022
NLGN31May 17, 2021
NLRP122Feb 24, 2022
NLRP21Feb 24, 2022
NLRP31Feb 24, 2022
NOD23May 5, 2022
NOMO31Jul 31, 2020
NONO2Feb 17, 2022
NOTCH15May 15, 2024
NOTCH35Nov 22, 2023
NPC14Feb 24, 2022
NPHP3-ACAD111Nov 22, 2023
NPRL22Jul 6, 2022
NPRL37May 5, 2022
NR0B27Nov 22, 2023
NR2C2AP1Aug 30, 2021
NR3C22Feb 24, 2022
NR5A11May 15, 2024
NRAP1Jul 31, 2020
NRAS1Feb 24, 2022
NRXN14Jul 6, 2022
NRXN25May 5, 2022
NRXN32May 17, 2021
NSD113Jul 6, 2022
NSD24May 15, 2024
NSDHL3Aug 17, 2022
NSUN21Sep 3, 2020
NT5C3A1Jul 22, 2021
NTRK25Sep 15, 2023
NUDC7Nov 22, 2023
NUP1332Feb 5, 2021
NUP1551Jul 31, 2020
NUS12Feb 24, 2022
OBSCN1Dec 5, 2022
OCRL2Feb 5, 2021
ODAD41Jul 22, 2021
ODC13Jul 6, 2022
OGFOD11May 1, 2023
OPHN11Feb 24, 2022
ORAI11Jul 6, 2022
OTOG2Jul 31, 2020
OTUD51Jul 6, 2022
OTUD7A1Aug 30, 2021
OXR11Feb 5, 2021
P2RY121May 5, 2022
PACS18Nov 22, 2023
PACS26Feb 17, 2022
PAFAH1B11Jul 6, 2022
PAH7Aug 17, 2022
PAK12Jul 22, 2021
PAK31Jul 6, 2022
PALB22May 15, 2024
PARN1May 15, 2024
PAX11Aug 30, 2021
PAX22Jul 22, 2021
PAX31Jul 6, 2022
PAX48Sep 15, 2023
PCCB2Nov 22, 2023
PCDH121Feb 5, 2021
PCDH195Aug 17, 2022
PCDHB41Aug 30, 2021
PCDHB@1Aug 30, 2021
PCGF21May 5, 2022
PCLO3Aug 17, 2022
PCSK15Sep 15, 2023
PCSK99May 1, 2023
PDE10A1Aug 30, 2021
PDE11A1Feb 24, 2022
PDE2A1Jul 6, 2022
PDE4D2Jul 6, 2022
PDGFRB1Feb 24, 2022
PDHA13May 15, 2024
PDHX1May 17, 2021
PDIA21Oct 13, 2020
PDK31Aug 17, 2022
PDX14May 1, 2023
PEPD1Sep 3, 2020
PER21Jul 31, 2020
PER31Feb 24, 2022
PEX121Jul 31, 2020
PGAP31Feb 17, 2022
PGLYRP31Jul 6, 2022
PGM32Feb 24, 2022
PHACTR19May 5, 2022
PHF21A5Jul 6, 2022
PHF61May 1, 2023
PHIP6May 1, 2023
PHKB1Feb 24, 2022
PHLPP12Feb 17, 2022
PIDD12Jul 6, 2022
PIEZO13May 15, 2024
PIEZO24Nov 22, 2023
PIGA1Feb 5, 2021
PIGB1May 17, 2021
PIGBOS11May 17, 2021
PIGC1Feb 5, 2021
PIGN1Oct 13, 2020
PIGO4Aug 17, 2022
PIGQ1Jul 22, 2021
PIGU1Jul 6, 2022
PIGV1Feb 17, 2022
PIGW1May 5, 2022
PIK3AP13Jul 6, 2022
PIK3CA1Feb 5, 2021
PIK3CD1May 5, 2022
PIK3R12Jul 6, 2022
PITX11Aug 17, 2022
PITX1-AS11Aug 17, 2022
PKD13May 15, 2024
PKP24May 1, 2023
PLA2G62Feb 24, 2022
PLAA1Aug 17, 2022
PLAU1Jul 6, 2022
PLBD1-AS11Jul 6, 2022
PLCB14Feb 28, 2022
PLCG22Feb 5, 2021
PLCH21Feb 5, 2021
PLN2Dec 5, 2022
PLOD11Nov 22, 2023
PLPBP3Jul 6, 2022
PLXNA19May 1, 2023
PLXNA21Nov 22, 2023
PLXNA32Feb 24, 2022
PLXNB31Jul 6, 2022
PLXND11Sep 3, 2020
PMPCB4Feb 24, 2022
PMS21May 15, 2024
PNKD2Jul 22, 2021
PNKP7Feb 24, 2022
PNPLA11Nov 22, 2023
PNPLA62May 5, 2022
PNPO3Jul 6, 2022
POGZ5May 5, 2022
POLA11Jul 6, 2022
POLE4May 5, 2022
POLG5Nov 22, 2023
POLG22Feb 24, 2022
POLGARF5Nov 22, 2023
POLK1Feb 5, 2021
POLR1C1May 5, 2022
POLR2A5Aug 17, 2022
POLR2F1May 17, 2021
POLR3B1Sep 15, 2023
POMC8Sep 15, 2023
POMT12May 15, 2024
POMT24May 15, 2024
POU3F32Jul 6, 2022
PPARG2May 1, 2023
PPCS1May 5, 2022
PPIL11Aug 17, 2022
PPM1D1Feb 17, 2022
PPOX1Nov 22, 2023
PPP1R13L1Jul 6, 2022
PPP1R351Jul 22, 2021
PPP1R35-AS11Jul 22, 2021
PPP2CA2Jul 6, 2022
PPP2R1A1Dec 4, 2020
PPP2R5D4Aug 17, 2022
PPP3CA2Feb 24, 2022
PPT12May 17, 2021
PRDM164Nov 22, 2023
PRDM61Dec 4, 2020
PRDM81Jul 31, 2020
PRF11Aug 17, 2022
PRICKLE18Feb 24, 2022
PRICKLE23May 5, 2022
PRICKLE2-AS12Feb 17, 2022
PRKAG22Nov 22, 2023
PRKD12Aug 17, 2022
PRKDC1Feb 17, 2022
PRMT77Nov 22, 2023
PROKR22Dec 4, 2020
PROS11Nov 22, 2023
PRPF191Aug 30, 2021
PRR1210Aug 17, 2022
PRRT22Feb 24, 2022
PRSS121Sep 3, 2020
PSMD123Feb 17, 2022
PSMG21Feb 24, 2022
PSORS1C11Jul 22, 2021
PSPH1Sep 3, 2020
PTCH15May 5, 2022
PTEN1Feb 17, 2022
PTF1A6Sep 15, 2023
PTPN117May 15, 2024
PTPN232Feb 17, 2022
PTPN41Sep 3, 2020
PTPRD1Dec 4, 2020
PTPRO1Nov 22, 2023
PTPRT1Jul 6, 2022
PTS1Oct 13, 2020
PUF602Aug 17, 2022
PUM12Jul 31, 2020
QARS15Jul 6, 2022
QRICH12May 15, 2024
RAB11B2May 15, 2024
RAB39B1Feb 24, 2022
RAB3GAP21Dec 4, 2020
RAD211Feb 17, 2022
RAF16Jul 6, 2022
RAG13Jul 6, 2022
RAI114Jul 6, 2022
RALGAPA12Feb 24, 2022
RANBP171Feb 24, 2022
RANBP23Feb 24, 2022
RAPGEF21Feb 5, 2021
RARS22Jul 22, 2021
RASA11Dec 4, 2020
RASA22Dec 4, 2020
RASGRP14May 1, 2023
RBFOX11Nov 22, 2023
RBL22Feb 24, 2022
RBMX1Jul 22, 2021
RBPJ2Jul 6, 2022
RC3H11Jul 22, 2021
RC3H21Feb 24, 2022
RECQL41May 15, 2024
RELA1Feb 24, 2022
RELN19Nov 22, 2023
RERE14Sep 15, 2023
RET1Aug 30, 2021
RFX31May 5, 2022
RFX63May 1, 2023
RFXANK1Aug 30, 2021
RHOBTB27Aug 17, 2022
RIC313Sep 15, 2023
RIF11Nov 22, 2023
RIGI1Feb 17, 2022
RIT11Aug 30, 2021
RMND11May 5, 2022
RNASEH2A1Jul 6, 2022
RNASEH2B2Feb 17, 2022
RNASET21May 17, 2021
RNF1252May 5, 2022
RNF132Aug 30, 2021
RNF141Feb 5, 2021
RNF2135Jul 6, 2022
RNF213-AS12Jul 6, 2022
RNU4ATAC2Oct 13, 2020
ROGDI4May 5, 2022
RORA9Aug 17, 2022
RORA-AS15Aug 17, 2022
RORB2Jul 6, 2022
RORC1Sep 15, 2023
RPGRIP1L1Aug 30, 2021
RPL10L1May 17, 2021
RPS6KA31Aug 17, 2022
RREB12Sep 15, 2023
RRP85Feb 24, 2022
RTEL13Sep 15, 2023
RTEL1-TNFRSF6B3Sep 15, 2023
RTN4IP13May 17, 2021
RTTN3Feb 17, 2022
RUSF12Sep 15, 2023
RYK1Sep 15, 2023
RYR14Sep 15, 2023
RYR25Nov 22, 2023
RYR320Aug 17, 2022
SACS2Jul 6, 2022
SALL11Jul 22, 2021
SAMD121Jul 6, 2022
SAMD93Jul 6, 2022
SAMD9L3May 5, 2022
SAMHD12Jul 6, 2022
SASS61Jul 31, 2020
SATB11Feb 24, 2022
SATB22Nov 22, 2023
SBDS1Feb 17, 2022
SCAF41Jul 6, 2022
SCAPER1Jul 22, 2021
SCARB11May 1, 2023
SCARB21Jul 31, 2020
SCN10A2Feb 17, 2022
SCN1A13Nov 22, 2023
SCN1A-AS16Jul 6, 2022
SCN1B1Aug 30, 2021
SCN2A8Aug 17, 2022
SCN3A8Nov 22, 2023
SCN4B1Feb 17, 2022
SCN5A10May 15, 2024
SCN8A14Jul 6, 2022
SCN9A10Jul 6, 2022
SCNN1B1May 17, 2021
SCNN1G1Jul 22, 2021
SCO21Jul 31, 2020
SDCCAG82Nov 22, 2023
SDHAF11Feb 5, 2021
SDHB1Feb 5, 2021
SDHC1May 17, 2021
SDHD1May 1, 2023
SDK22Feb 5, 2021
SEC61A11Feb 17, 2022
SEMA5A1Jul 6, 2022
SEMA6B2May 5, 2022
SEPSECS1Jul 6, 2022
SEPTIN111Nov 22, 2023
SEPTIN91May 24, 2023
SERAC11Oct 13, 2020
SERPINI11Aug 30, 2021
SET1May 5, 2022
SETBP19Jul 6, 2022
SETD1A13Aug 17, 2022
SETD1B13Jul 6, 2022
SETD228May 15, 2024
SETD514Aug 17, 2022
SETX1Sep 15, 2023
SF3B41Jul 6, 2022
SFTPC1May 15, 2024
SGCD2Sep 15, 2023
SGCE1Jul 6, 2022
SGSH2Jul 6, 2022
SH3BP21Jul 6, 2022
SH3TC21Sep 15, 2023
SHANK12Nov 22, 2023
SHANK26Jul 6, 2022
SHANK34May 5, 2022
SHLD21Feb 24, 2022
SHOC21Jul 6, 2022
SHROOM44Aug 17, 2022
SI1May 17, 2021
SIAH11May 15, 2024
SIK13Feb 5, 2021
SIM16Sep 15, 2023
SIM1-AS12May 1, 2023
SIN3A9Aug 17, 2022
SIX11Feb 17, 2022
SIX31May 5, 2022
SKI4Aug 17, 2022
SKIC31Feb 5, 2021
SLC12A23May 5, 2022
SLC12A31Feb 17, 2022
SLC12A41Dec 5, 2022
SLC12A56Jul 6, 2022
SLC12A5-AS11Feb 17, 2022
SLC13A51Feb 5, 2021
SLC16A21May 5, 2022
SLC17A53Feb 24, 2022
SLC18A21May 17, 2021
SLC19A11Oct 13, 2020
SLC19A31Jul 31, 2020
SLC1A21May 5, 2022
SLC1A33Feb 17, 2022
SLC1A41Feb 17, 2022
SLC20A21Nov 21, 2021
SLC25A122Feb 5, 2021
SLC25A191Jul 22, 2021
SLC26A5-AS12Dec 4, 2020
SLC29A31May 5, 2022
SLC2A13Nov 21, 2021
SLC2A23May 1, 2023
SLC30A31Feb 24, 2022
SLC45A12Nov 21, 2021
SLC45A41Feb 17, 2022
SLC4A11Feb 17, 2022
SLC4A31Nov 22, 2023
SLC5A210Sep 15, 2023
SLC6A18Jul 6, 2022
SLC6A1-AS12Feb 17, 2022
SLC6A192May 5, 2022
SLC6A201Oct 13, 2020
SLC6A81May 5, 2022
SLC9A31Aug 30, 2021
SLC9A62Jul 6, 2022
SLC9A72May 5, 2022
SLC9A91Feb 5, 2021
SLX42Jul 6, 2022
SMAD21Feb 24, 2022
SMAD64May 15, 2024
SMAD91Jul 6, 2022
SMARCA11Jul 22, 2021
SMARCA25Jul 6, 2022
SMARCA45Jul 6, 2022
SMARCB15Aug 17, 2022
SMARCC29Aug 17, 2022
SMARCD11Feb 24, 2022
SMARCE12Jul 6, 2022
SMC32Jul 6, 2022
SMPD12Feb 17, 2022
SMU11Aug 17, 2022
SNAP251Nov 21, 2021
SNAP291Feb 5, 2021
SNHG141Jul 6, 2022
SNIP11Feb 17, 2022
SNRPB1May 15, 2024
SNX251Jul 6, 2022
SOBP2May 5, 2022
SON7May 5, 2022
SORBS11Feb 24, 2022
SOS16Aug 17, 2022
SOS26Sep 15, 2023
SOX101May 17, 2021
SOX114May 5, 2022
SOX171Feb 24, 2022
SOX43Feb 17, 2022
SOX57Nov 22, 2023
SOX61Sep 15, 2023
SPART2May 5, 2022
SPAST1May 17, 2021
SPECC1L3May 5, 2022
SPECC1L-ADORA2A3May 5, 2022
SPEN3Jul 6, 2022
SPG71Feb 24, 2022
SPINK53Feb 17, 2022
SPPL2A1Nov 21, 2021
SPR1Feb 17, 2022
SPRED13Feb 17, 2022
SPTA11Jul 22, 2021
SPTAN15Aug 17, 2022
SPTBN22Aug 17, 2022
SPTBN45Feb 24, 2022
SRCAP6Feb 24, 2022
SRGAP21Jul 6, 2022
SRPK21Feb 28, 2022
SRPX21May 5, 2022
SRRM21Jul 6, 2022
SSR41Jul 6, 2022
ST3GAL33Aug 30, 2021
ST3GAL3-AS11May 17, 2021
ST3GAL51Jul 31, 2020
STAG17Jul 6, 2022
STAG21Sep 15, 2023
STARD73Aug 17, 2022
STARD96Nov 22, 2023
STAT12Aug 30, 2021
STAT5B3Jul 22, 2021
STIM15Nov 22, 2023
STING11Nov 21, 2021
STX1B1Aug 17, 2022
STXBP14May 5, 2022
STYXL11Oct 13, 2020
SUFU1Nov 22, 2023
SUPT16H2May 5, 2022
SURF11Feb 5, 2021
SUZ122Feb 24, 2022
SYN12Nov 22, 2023
SYNCRIP2Feb 5, 2021
SYNE11Oct 13, 2020
SYNGAP113Jul 6, 2022
SYNGAP1-AS111Jul 6, 2022
SYNJ11Feb 17, 2022
SYNRG3Feb 24, 2022
SZT222Jul 6, 2022
SZT2-AS14Jul 6, 2022
TAF101Nov 22, 2023
TAF1C1Jul 6, 2022
TANC28May 15, 2024
TANGO22Aug 17, 2022
TAOK13May 5, 2022
TAP22Feb 24, 2022
TBC1D244Jul 6, 2022
TBC1D321Nov 21, 2021
TBC1D7-LOC1001303572May 5, 2022
TBCD2Feb 24, 2022
TBCK1Aug 17, 2022
TBL1XR16Nov 22, 2023
TBL1XR1-AS12May 5, 2022
TBR12Jul 6, 2022
TBX15May 15, 2024
TBXAS12Jul 22, 2021
TCAP1Sep 15, 2023
TCF122Aug 17, 2022
TCF2010Aug 17, 2022
TCF32Feb 24, 2022
TCF46Nov 22, 2023
TCF7L22Jul 6, 2022
TCOF11May 15, 2024
TEK1May 15, 2024
TENM32Nov 22, 2023
TERT1Sep 15, 2023
TET22Sep 15, 2023
TET2-AS12Sep 15, 2023
TET310Jul 6, 2022
TFAP2B2May 1, 2023
TFE31May 17, 2021
TGFB11Nov 21, 2021
TGFB31May 1, 2023
TGFBI1May 5, 2022
TGFBR22Jul 6, 2022
TGIF12Feb 24, 2022
TGM61Nov 22, 2023
THADA1Feb 17, 2022
THAP11Jul 6, 2022
THOC21Aug 17, 2022
THRB1Jul 22, 2021
THSD41Sep 15, 2023
TK21May 15, 2024
TLDC21Jul 6, 2022
TLK22Jul 6, 2022
TLL11Nov 21, 2021
TLR71Feb 17, 2022
TM4SF202Nov 22, 2023
TMEM1271May 17, 2021
TMEM2011May 5, 2022
TMEM2311Jul 6, 2022
TMEM432Nov 22, 2023
TMEM63A1Feb 17, 2022
TMEM63B1May 5, 2022
TMEM671May 17, 2021
TMEM941Feb 24, 2022
TMLHE1Feb 24, 2022
TMX21Feb 17, 2022
TMX2-CTNND11Feb 17, 2022
TNFRSF13B3Jul 6, 2022
TNFSF121May 17, 2021
TNFSF12-TNFSF131May 17, 2021
TNIK1Feb 17, 2022
TNK23Aug 17, 2022
TNNC11Dec 4, 2020
TNNI32Nov 22, 2023
TNNI3K2Sep 15, 2023
TNNT25Sep 15, 2023
TNNT31May 15, 2024
TNRC6A2Aug 17, 2022
TNRC6B5Aug 17, 2022
TOP2B2Aug 17, 2022
TOPBP11Feb 24, 2022
TP532Sep 15, 2023
TPBG1Feb 24, 2022
TPM14Nov 22, 2023
TPP14Feb 17, 2022
TRAF72Feb 24, 2022
TRANK11May 5, 2022
TRAPPC111Oct 13, 2020
TRAPPC2L1Feb 24, 2022
TRAPPC41Feb 24, 2022
TRAPPC6B1Feb 24, 2022
TRAPPC95Feb 24, 2022
TRDN1Dec 5, 2022
TREX13Feb 24, 2022
TRIM324Sep 15, 2023
TRIM713Jul 6, 2022
TRIM81Jul 31, 2020
TRIO16Aug 17, 2022
TRIP127Feb 24, 2022
TRMT11Nov 21, 2021
TRPM35Jul 6, 2022
TRPM61May 17, 2021
TRRAP5Jul 6, 2022
TSC12Feb 17, 2022
TSC210Aug 17, 2022
TSHR1Jul 31, 2020
TSHZ11May 17, 2021
TSPOAP12Feb 24, 2022
TTC281Jul 6, 2022
TTC88Sep 15, 2023
TTI21May 17, 2021
TTN104Nov 22, 2023
TTN-AS159Nov 22, 2023
TTR1May 1, 2023
TUB15Nov 22, 2023
TUBB2B2May 15, 2024
TUBG11Jul 31, 2020
TUBGCP21Feb 24, 2022
TUSC31Nov 21, 2021
TWIST11May 5, 2022
TWNK2Feb 24, 2022
TXNRD22Jul 6, 2022
TYK21Jul 22, 2021
TYMP1Jul 31, 2020
TYR1May 15, 2024
UBA51Nov 22, 2023
UBE3A1Jul 6, 2022
UBN21Feb 28, 2022
UBR45Aug 17, 2022
UCMA1May 5, 2022
UNC13A3May 5, 2022
UNC13B2Aug 17, 2022
UNC13D2Feb 17, 2022
UNC804Jul 6, 2022
UPB13Feb 24, 2022
USH2A1Feb 5, 2021
USP61Nov 22, 2023
USP76Aug 17, 2022
USP9X4May 15, 2024
VARS14May 5, 2022
VARS22May 5, 2022
VCL6Sep 15, 2023
VDR1Feb 24, 2022
VIP1May 17, 2021
VPS13B44Sep 15, 2023
VPS4A1Aug 30, 2021
VPS501May 15, 2024
VRK21Sep 3, 2020
VWA3B2Aug 30, 2021
VWF2Nov 22, 2023
WAC3Aug 17, 2022
WASF11Feb 24, 2022
WASHC43May 17, 2021
WDFY314Jul 6, 2022
WDFY3-AS11Jul 31, 2020
WDPCP3May 1, 2023
WDR264May 5, 2022
WDR373Feb 24, 2022
WDR41May 17, 2021
WDR451Feb 5, 2021
WDR45B1May 17, 2021
WDR51Jul 6, 2022
WDR623Oct 13, 2020
WDR815Aug 17, 2022
WFS122Sep 15, 2023
WIPF11Sep 15, 2023
WNT10A1Sep 15, 2023
WWOX4Feb 17, 2022
XPR11Sep 3, 2020
YEATS23Nov 22, 2023
YEATS2-AS11Aug 17, 2022
YWHAG1Jul 6, 2022
YY12Feb 17, 2022
YY1AP11May 17, 2021
ZACN1Aug 17, 2022
ZBTB183May 5, 2022
ZBTB202May 15, 2024
ZDHHC245May 1, 2023
ZEB23May 5, 2022
ZFHX41Jul 6, 2022
ZFP571Nov 22, 2023
ZFPM21May 15, 2024
ZHX31May 1, 2023
ZIC12Feb 24, 2022
ZIC21Feb 17, 2022
ZIC31May 17, 2021
ZMIZ111Sep 15, 2023
ZMYM21Aug 17, 2022
ZMYND112Jul 6, 2022
ZNF1423Feb 24, 2022
ZNF2321Nov 22, 2023
ZNF2923Feb 24, 2022
ZNF3352Feb 24, 2022
ZNF4076Aug 17, 2022
ZNF4281Feb 24, 2022
ZNF4628Jul 6, 2022
ZNF4693Feb 17, 2022
ZNF7111May 17, 2021
ZNHIT31Nov 21, 2021
ZSWIM69Aug 17, 2022

Condition

NameSubmissionsLast Updated
10q11.22q11.23 deletion syndrome1Mar 23, 2023
12p13.33 duplication syndrome1Feb 24, 2022
14q11.2 microduplication syndrome1Feb 17, 2022
15q11.2 BP1-BP2 recurrent deletion1May 15, 2024
15q11q13 microduplication syndrome2Feb 17, 2022
16p13.11 microduplication syndrome2May 15, 2024
16p13.11 recurrent microdeletion syndrome1Mar 23, 2023
1q21.1 microdeletion syndrome (BP3-BP4, distal)1Nov 22, 2023
20q13.13qter duplication1May 15, 2024
22q11.2 deletion syndrome1Mar 23, 2023
3-hydroxy-3-methylglutaryl-CoA synthase deficiency1Feb 24, 2022
3-methylglutaconic aciduria, type VIIB1Feb 17, 2022
46,XY sex reversal 31May 15, 2024
4p partial monosomy syndrome1Feb 17, 2022
5q14.3 microdeletion1May 15, 2024
7p22.1 microduplication syndrome2Jul 6, 2022
8q24.3 microdeletion syndrome2Aug 17, 2022
ADAMTS19-associated congenital heartdefect1Jul 6, 2022
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder3Jul 6, 2022
AGMO-related Neurodevelopmental disorder2Aug 17, 2022
AGO1-related Intellectual disability1Feb 24, 2022
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome3May 5, 2022
AKNA-related autism spectrum disorder1Jul 6, 2022
ALDH18A1-related de Barsy syndrome1May 5, 2022
ALG1-congenital disorder of glycosylation3Nov 21, 2021
ALG11-congenital disorder of glycosylation1Nov 21, 2021
ALG9 congenital disorder of glycosylation3Nov 21, 2021
ANK2-associated Complex Neurodevelopmental Disorder3Jul 6, 2022
ANK2-associated Neurodevelopmental Disorder2Feb 24, 2022
ANK2-related Autism2May 5, 2022
ANK3-related neurodevelopmental disorder2Jul 6, 2022
ARHGEF6-associated Neurodevelopmental disorder1Aug 17, 2022
ATP10B-associated developmental disorder1Jul 6, 2022
ATP2B2-related Progressive hearing impairment1Jul 6, 2022
Aarskog syndrome1May 15, 2024
Abdominal obesity-metabolic syndrome 35Nov 22, 2023
Abetalipoproteinaemia9Nov 22, 2023
Abnormal facial shape1Oct 13, 2020
Abnormality of skin pigmentation2Oct 13, 2020
Absence seizure3Feb 24, 2022
Achondroplasia1May 15, 2024
Acne inversa, familial, 11Feb 17, 2022
Acrodysostosis 2 with or without hormone resistance1Jul 6, 2022
Acrokeratosis verruciformis of Hopf1Feb 24, 2022
Acromicric dysplasia1Feb 24, 2022
Acute intermittent porphyria1Feb 17, 2022
Acyl-CoA oxidase deficiency1Nov 22, 2023
Adams-Oliver syndrome 32Jul 6, 2022
Adams-Oliver syndrome 52May 15, 2024
Adenylosuccinate lyase deficiency2Feb 24, 2022
Adrenal hyperplasia1Oct 13, 2020
Adrenoleukodystrophy1Jul 6, 2022
Advanced sleep phase syndrome 31Feb 24, 2022
Agammaglobulinemia 2, autosomal recessive3Feb 17, 2022
Agammaglobulinemia 3, autosomal recessive1Jul 6, 2022
Agammaglobulinemia 4, autosomal recessive1Jul 6, 2022
Agammaglobulinemia 7, autosomal recessive1Jul 6, 2022
Agammaglobulinemia 8, autosomal dominant2Feb 24, 2022
Aicardi-Goutieres syndrome 11Feb 5, 2021
Aicardi-Goutieres syndrome 22Feb 17, 2022
Aicardi-Goutieres syndrome 41Jul 6, 2022
Aicardi-Goutieres syndrome 52Jul 6, 2022
Aicardi-Goutieres syndrome 61Feb 5, 2021
Aicardi-Goutieres syndrome 76May 15, 2024
Alagille syndrome due to a JAG1 point mutation1Feb 17, 2022
Aldosterone-producing adenoma with seizures and neurological abnormalities5Aug 17, 2022
Alexander disease1Feb 17, 2022
Alkuraya-Kucinskas syndrome2May 5, 2022
Allan-Herndon-Dudley syndrome1May 5, 2022
Alopecia-intellectual disability syndrome 42Aug 17, 2022
Alpha thalassemia-X-linked intellectual disability syndrome6Aug 17, 2022
Alstrom syndrome41Nov 22, 2023
Alternating hemiplegia of childhood 13Jul 6, 2022
Alternating hemiplegia of childhood 21Jul 6, 2022
Alveolar capillary dysplasia with pulmonary venous misalignment1May 15, 2024
Amelocerebrohypohidrotic syndrome2May 5, 2022
Aminoacylase 1 deficiency2Jul 6, 2022
Aminoglycoside Ototoxicity1May 15, 2024
Aminoglycoside induced ototoxicity1May 15, 2024
Amyotrophic lateral sclerosis type 211May 5, 2022
Amyotrophic lateral sclerosis type 41Sep 15, 2023
Amyotrophic neuralgia1May 24, 2023
Anemia1Jul 31, 2020
Anemia, nonspherocytic hemolytic, due to G6PD deficiency4May 15, 2024
Angelman syndrome2Jul 6, 2022
Aortic aneurysm, familial thoracic 121Sep 15, 2023
Aortic aneurysm, familial thoracic 41Nov 22, 2023
Aortic aneurysm, familial thoracic 71Nov 22, 2023
Aortic root aneurysm1Oct 13, 2020
Aortic valve disease 12May 15, 2024
Aortic valve disease 23May 15, 2024
Apolipoprotein c-III deficiency2Dec 5, 2022
Arginine:glycine amidinotransferase deficiency1May 17, 2021
Argininosuccinate lyase deficiency1Aug 17, 2022
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma3May 1, 2023
Arrhythmogenic right ventricular dysplasia 11May 1, 2023
Arrhythmogenic right ventricular dysplasia 102May 1, 2023
Arrhythmogenic right ventricular dysplasia 112May 1, 2023
Arrhythmogenic right ventricular dysplasia 122May 1, 2023
Arrhythmogenic right ventricular dysplasia 133Nov 22, 2023
Arrhythmogenic right ventricular dysplasia 22Dec 5, 2022
Arrhythmogenic right ventricular dysplasia 52Nov 22, 2023
Arrhythmogenic right ventricular dysplasia 810Nov 22, 2023
Arrhythmogenic right ventricular dysplasia 94May 1, 2023
Arrhythmogenic right ventricular dysplasia, familial, 144Sep 15, 2023
Arthrogryposis multiplex congenita 62Nov 22, 2023
Arthrogryposis, distal, type 2B21May 15, 2024
Arthrogryposis, distal, with impaired proprioception and touch2Jul 6, 2022
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome2Nov 22, 2023
Ataxia - oculomotor apraxia type 41Aug 30, 2021
Ataxia-hypogonadism-choroidal dystrophy syndrome2May 5, 2022
Ataxia-pancytopenia syndrome3May 5, 2022
Ataxia-telangiectasia syndrome1May 5, 2022
Ataxia-telangiectasia-like disorder 12May 15, 2024
Atelosteogenesis type I1Nov 22, 2023
Atelosteogenesis type III2Nov 22, 2023
Atrial conduction disease2Sep 15, 2023
Atrial fibrillation2Jul 31, 2020
Atrial fibrillation, familial, 102Sep 15, 2023
Atrial fibrillation, familial, 181Sep 15, 2023
Atrial fibrillation, familial, 39May 15, 2024
Atrial fibrillation, familial, 42May 1, 2023
Atrial fibrillation, familial, 71Sep 15, 2023
Atrial septal defect 61Nov 21, 2021
Atrial septal defect 71Sep 15, 2023
Attention deficit hyperactivity disorder1Jul 31, 2020
Atypical Leigh syndrome1May 5, 2022
Au-Kline syndrome3Sep 15, 2023
Aural atresia, congenital1May 17, 2021
Autism37May 5, 2022
Autism spectrum disorder1Feb 24, 2022
Autism spectrum disorder due to AUTS2 deficiency11Jul 6, 2022
Autism, susceptibility to, 151Aug 17, 2022
Autism, susceptibility to, 161Feb 5, 2021
Autism, susceptibility to, 175May 5, 2022
Autism, susceptibility to, 52Jul 6, 2022
Autism, susceptibility to, X-linked 11May 17, 2021
Autistic behavior12Dec 4, 2020
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency1Feb 5, 2021
Autoimmune lymphoproliferative syndrome type 11May 5, 2022
Autoimmune lymphoproliferative syndrome type 2B2Jul 22, 2021
Autoinflammation, immune dysregulation, and eosinophilia1Feb 24, 2022
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation1Feb 5, 2021
Autosomal dominant Opitz G/BBB syndrome2Nov 21, 2021
Autosomal dominant cerebellar ataxia, deafness and narcolepsy1May 5, 2022
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures4May 15, 2024
Autosomal dominant distal renal tubular acidosis1Feb 17, 2022
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1Nov 22, 2023
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome4Jul 6, 2022
Autosomal dominant nocturnal frontal lobe epilepsy 13Aug 17, 2022
Autosomal dominant nocturnal frontal lobe epilepsy 35Jul 6, 2022
Autosomal dominant nocturnal frontal lobe epilepsy 43Jul 6, 2022
Autosomal dominant nocturnal frontal lobe epilepsy 54Aug 17, 2022
Autosomal dominant nonsyndromic hearing loss 11Sep 15, 2023
Autosomal dominant nonsyndromic hearing loss 171Sep 15, 2023
Autosomal dominant nonsyndromic hearing loss 221Feb 24, 2022
Autosomal dominant nonsyndromic hearing loss 3A1Sep 15, 2023
Autosomal dominant nonsyndromic hearing loss 401Feb 5, 2021
Autosomal dominant nonsyndromic hearing loss 4A1Sep 15, 2023
Autosomal dominant nonsyndromic hearing loss 61Jul 6, 2022
Autosomal dominant omodysplasia1May 17, 2021
Autosomal dominant pseudohypoaldosteronism type 11Feb 24, 2022
Autosomal recessive Alport syndrome1Nov 21, 2021
Autosomal recessive complex spastic paraplegia type 9B1May 5, 2022
Autosomal recessive congenital ichthyosis 101Nov 22, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2F1Feb 24, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2I2Nov 22, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2K2May 15, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2N4May 15, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2T1Feb 17, 2022
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency1Sep 15, 2023
Autosomal recessive nonsyndromic hearing loss 1A2Jul 22, 2021
Autosomal recessive pseudohypoaldosteronism type 11May 17, 2021
Autosomal recessive spinocerebellar ataxia 142Aug 17, 2022
Autosomal recessive spinocerebellar ataxia 172Feb 5, 2021
Avellino corneal dystrophy1May 5, 2022
Ayme-Gripp syndrome3Sep 15, 2023
BAZ2B-related Neurodevelopmental disorder3May 1, 2023
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 207May 1, 2023
BRSK2-related Intellectual Disability and Autism1Jul 6, 2022
BSCL2-related Developmental and epileptic encephalopathy1Feb 17, 2022
Baraitser-Winter syndrome 12Feb 17, 2022
Bardet-Biedl syndrome 19Nov 22, 2023
Bardet-Biedl syndrome 103Sep 15, 2023
Bardet-Biedl syndrome 126Sep 15, 2023
Bardet-Biedl syndrome 1311Sep 15, 2023
Bardet-Biedl syndrome 143Dec 5, 2022
Bardet-Biedl syndrome 162Nov 22, 2023
Bardet-Biedl syndrome 172Sep 15, 2023
Bardet-Biedl syndrome 181Dec 5, 2022
Bardet-Biedl syndrome 26Nov 22, 2023
Bardet-Biedl syndrome 207Sep 15, 2023
Bardet-Biedl syndrome 221May 1, 2023
Bardet-Biedl syndrome 32Sep 15, 2023
Bardet-Biedl syndrome 45May 1, 2023
Bardet-Biedl syndrome 54Nov 22, 2023
Bardet-Biedl syndrome 66Sep 15, 2023
Bardet-Biedl syndrome 75Nov 22, 2023
Bardet-Biedl syndrome 88Sep 15, 2023
Bardet-Biedl syndrome 98May 1, 2023
Bartter disease type 21Feb 17, 2022
Basal cell nevus syndrome 21Nov 22, 2023
Basilicata-Akhtar syndrome2Feb 17, 2022
Beck-Fahrner syndrome8Jul 6, 2022
Becker muscular dystrophy1May 5, 2022
Beckwith-Wiedemann syndrome2Jul 6, 2022
Beta-D-mannosidosis1Nov 21, 2021
Bethlem myopathy 22Nov 22, 2023
Bicuspid aortic valve3Oct 13, 2020
Bifunctional peroxisomal enzyme deficiency2May 5, 2022
Bilateral frontoparietal polymicrogyria1May 5, 2022
Bilateral sensorineural hearing impairment2Oct 13, 2020
Biotinidase deficiency2May 5, 2022
Blau syndrome3May 5, 2022
Blepharophimosis - intellectual disability syndrome, MKB type1Jul 6, 2022
Blepharophimosis - intellectual disability syndrome, SBBYS type3Jul 6, 2022
Blepharophimosis-impaired intellectual development syndrome1May 5, 2022
Bloom syndrome1Feb 24, 2022
Body mass index quantitative trait locus 124Sep 15, 2023
Bohring-Opitz syndrome3Aug 17, 2022
Bone marrow failure syndrome 61May 5, 2022
Boomerang dysplasia1Nov 22, 2023
Borjeson-Forssman-Lehmann syndrome1May 1, 2023
Brachyolmia-amelogenesis imperfecta syndrome1Nov 22, 2023
Brain abnormalities, neurodegeneration, and dysosteosclerosis1Feb 17, 2022
Brain small vessel disease 1 with or without ocular anomalies4Nov 22, 2023
Branchiootic syndrome 11May 15, 2024
Branchiootic syndrome 31Feb 17, 2022
Branchiootorenal syndrome 11May 15, 2024
Breast-ovarian cancer, familial, susceptibility to, 16May 15, 2024
Breast-ovarian cancer, familial, susceptibility to, 27May 15, 2024
Brittle cornea syndrome 12Feb 17, 2022
Bronchiectasis with or without elevated sweat chloride 31Jul 22, 2021
Brugada syndrome11Jul 6, 2022
Brugada syndrome 14May 15, 2024
Brugada syndrome 34May 1, 2023
Brugada syndrome 83Nov 22, 2023
Buratti-Harel syndrome1May 15, 2024
CAP2-associated dilated cardiomyopathy1May 5, 2022
CBL-related disorder3Nov 22, 2023
CDC42BPB-related Neurodevelopmental disorder1Feb 24, 2022
CDH4-associated disorder of corticaldevelopment1Jul 6, 2022
CEBALID syndrome2Jul 6, 2022
CEDNIK syndrome1Feb 5, 2021
CELSR1-associated congenital heartdefects1Jul 6, 2022
CFHR5 deficiency1Feb 17, 2022
CHARGE syndrome10May 15, 2024
CHD5-associated Neurodevelopmental disorder1Jul 6, 2022
CHD5-related Neurodevelopmental disorder1Feb 24, 2022
CHD8-associated Neurodevelopmental syndrome1Jul 6, 2022
CK syndrome2Aug 17, 2022
CLIP1-related intellectual disability2Jul 6, 2022
CMIP-related neurodevelopmental disorder1Nov 22, 2023
CNTN4-associated neurodevelopmental disorder1May 5, 2022
CNTN5-related Neurodevelopmental disorder1Feb 24, 2022
COACH syndrome 12Feb 17, 2022
COACH syndrome 21May 5, 2022
COG4-congenital disorder of glycosylation1Feb 17, 2022
COG8-congenital disorder of glycosylation1May 17, 2021
CSDE1-associated neurodevelopmental disorder1Jul 6, 2022
CSMD3-associated Hirschsprung disease1Feb 24, 2022
CTNND2-associated Neurodevelopmental syndrome2Aug 17, 2022
Café-au-lait macules with pulmonary stenosis3Feb 24, 2022
Capillary malformation-arteriovenous malformation 22Aug 17, 2022
Cardiac anomalies - developmental delay - facial dysmorphism syndrome10Aug 17, 2022
Cardiac arrhythmia1Dec 4, 2020
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies2Jul 6, 2022
Cardiac valvular dysplasia, X-linked4Nov 22, 2023
Cardiac, facial, and digital anomalies with developmental delay1Feb 24, 2022
Cardiac-urogenital syndrome4May 15, 2024
Cardiofaciocutaneous syndrome 11Aug 17, 2022
Cardiofaciocutaneous syndrome 21May 17, 2021
Cardiomyopathy, dilated, 2E1Nov 22, 2023
Cardiomyopathy, dilated, 2c1May 5, 2022
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis3May 1, 2023
Cardiomyopathy, familial hypertrophic 271Sep 15, 2023
Cardiomyopathy, familial hypertrophic, 283Nov 22, 2023
Cardiomyopathy, familial restrictive, 11Nov 22, 2023
Cardiomyopathy, familial restrictive, 32Sep 15, 2023
Carnitine palmitoyl transferase II deficiency, myopathic form1May 1, 2023
Carnitine palmitoyl transferase II deficiency, neonatal form2May 15, 2024
Carnitine palmitoyl transferase II deficiency, severe infantile form2May 15, 2024
Cataract 14 multiple types1May 5, 2022
Cataract 21 multiple types1Sep 15, 2023
Catecholaminergic polymorphic ventricular tachycardia 14Nov 22, 2023
Catecholaminergic polymorphic ventricular tachycardia 23Nov 22, 2023
Catecholaminergic polymorphic ventricular tachycardia 51Dec 5, 2022
Central core myopathy3May 5, 2022
Cerebellar ataxia, brain abnormalities, and cardiac conduction defects1Aug 17, 2022
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 24Aug 17, 2022
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 42Jul 22, 2021
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1Jul 6, 2022
Cerebellar atrophy with seizures and variable developmental delay4Jul 6, 2022
Cerebellar atrophy, developmental delay, and seizures7Jul 6, 2022
Cerebellar atrophy, visual impairment, and psychomotor retardation;4Nov 22, 2023
Cerebellar dysfunction with variable cognitive and behavioral abnormalities7May 15, 2024
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 14Nov 22, 2023
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21May 5, 2022
Cerebral cavernous malformation3May 5, 2022
Cerebral cavernous malformation 21Jul 6, 2022
Cerebral hemorrhage2Dec 4, 2020
Cerebro-costo-mandibular syndrome1May 15, 2024
Cerebroretinal microangiopathy with calcifications and cysts 13Aug 17, 2022
Cernunnos-XLF deficiency1May 5, 2022
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1Feb 24, 2022
Char syndrome2May 1, 2023
Charcot-Marie-Tooth disease X-linked dominant 61Aug 17, 2022
Charcot-Marie-Tooth disease axonal type 2O4May 15, 2024
Charcot-Marie-Tooth disease axonal type 2U1Nov 22, 2023
Charcot-Marie-Tooth disease axonal type 2Z1May 5, 2022
Charcot-Marie-Tooth disease type 4C1Sep 15, 2023
Charcot-Marie-Tooth disease type 4G1May 5, 2022
Charcot-Marie-Tooth disease type 4J1Sep 15, 2023
Charcot-Marie-Tooth disease, demyelinating, IIA 1I1Sep 15, 2023
Charcot-Marie-Tooth disease, demyelinating, type 1J1Sep 15, 2023
Charcot-marie-tooth disease, axonal, type 2DD1Nov 22, 2023
Charlevoix-Saguenay spastic ataxia2Jul 6, 2022
Chilblain lupus 11Feb 5, 2021
Chilblain lupus 21Jul 6, 2022
Child syndrome1Aug 17, 2022
Childhood apraxia of speech1Jul 22, 2021
Childhood onset GLUT1 deficiency syndrome 21Aug 30, 2021
Chitayat syndrome2Jul 6, 2022
Cholestanol storage disease1May 5, 2022
Cholestasis-pigmentary retinopathy-cleft palate syndrome1Dec 5, 2022
Christianson syndrome2Jul 6, 2022
Chromosome 15q11.2 deletion syndrome3May 15, 2024
Chromosome 1p36 deletion syndrome1Mar 22, 2023
Chromosome 1q21.1 duplication syndrome1May 5, 2022
Chromosome 2q32-q33 deletion syndrome2Nov 22, 2023
Chromosome 3q29 microdeletion syndrome1May 5, 2022
Chromosome Xq28 duplication syndrome1May 15, 2024
Chédiak-Higashi syndrome1Feb 24, 2022
Ciliary dyskinesia, primary, 371Nov 21, 2021
Ciliary dyskinesia, primary, 402Nov 21, 2021
Citrullinemia type I1Jul 6, 2022
Clark-Baraitser syndrome6Feb 24, 2022
Classic homocystinuria1Feb 17, 2022
Clubfoot1Aug 17, 2022
Cobalamin C disease2Nov 22, 2023
Coffin-Lowry syndrome1Aug 17, 2022
Coffin-Siris syndrome 111Aug 17, 2022
Coffin-Siris syndrome 103Feb 17, 2022
Coffin-Siris syndrome 111Feb 24, 2022
Coffin-Siris syndrome 123Aug 17, 2022
Coffin-Siris syndrome 52Jul 6, 2022
Coffin-Siris syndrome 62Aug 17, 2022
Coffin-Siris syndrome 71Aug 30, 2021
Coffin-Siris syndrome 89Aug 17, 2022
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome6May 1, 2023
Cognitive impairment with or without cerebellar ataxia5Jul 6, 2022
Cohen syndrome44Sep 15, 2023
Colorectal cancer, susceptibility to, 121May 5, 2022
Combined immunodeficiency due to CD3gamma deficiency1Jul 22, 2021
Combined immunodeficiency due to DOCK8 deficiency3Feb 24, 2022
Combined immunodeficiency due to LRBA deficiency3Feb 17, 2022
Combined immunodeficiency due to MALT1 deficiency2Feb 24, 2022
Combined immunodeficiency due to ORAI1 deficiency1Jul 6, 2022
Combined immunodeficiency due to STIM1 deficiency4Feb 5, 2021
Combined immunodeficiency due to partial RAG1 deficiency2May 5, 2022
Combined immunodeficiency with skin granulomas2May 5, 2022
Combined oxidative phosphorylation defect type 111May 5, 2022
Combined oxidative phosphorylation defect type 202May 5, 2022
Combined oxidative phosphorylation defect type 241Feb 17, 2022
Combined oxidative phosphorylation defect type 271Feb 17, 2022
Combined oxidative phosphorylation deficiency 362Jul 22, 2021
Complement component 5 deficiency1Feb 24, 2022
Complement component 6 deficiency1Feb 5, 2021
Complex cortical dysplasia with other brain malformations 21Feb 17, 2022
Complex cortical dysplasia with other brain malformations 72May 15, 2024
Complex neurodevelopmental disorder1Feb 17, 2022
Congenital Pulmonary Airway Malformations1May 15, 2024
Congenital bile acid synthesis defect 11Feb 24, 2022
Congenital bile acid synthesis defect 61Nov 21, 2021
Congenital cerebellar hypoplasia1Feb 5, 2021
Congenital contractural arachnodactyly1Sep 15, 2023
Congenital contractures of the limbs and face, hypotonia, and developmental delay4Feb 24, 2022
Congenital diarrhea 62Jul 6, 2022
Congenital diarrhea 7 with exudative enteropathy1Jul 6, 2022
Congenital disorder of deglycosylation1Nov 21, 2021
Congenital disorder of glycosylation, type ICC1Feb 5, 2021
Congenital disorder of glycosylation, type IIq1Feb 5, 2021
Congenital disorder of glycosylation, type iit1Dec 5, 2022
Congenital generalized lipodystrophy type 18May 1, 2023
Congenital generalized lipodystrophy type 23Dec 5, 2022
Congenital heart defects and ectodermal dysplasia2Aug 17, 2022
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder4Jul 6, 2022
Congenital heart defects, multiple types, 72May 15, 2024
Congenital heart disease4Jul 6, 2022
Congenital hyperammonemia, type I2Feb 24, 2022
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies2Jul 6, 2022
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type2Feb 24, 2022
Congenital multicore myopathy with external ophthalmoplegia4Sep 15, 2023
Congenital myasthenic syndrome 102May 5, 2022
Congenital myasthenic syndrome 121May 5, 2022
Congenital myasthenic syndrome 2A1Feb 24, 2022
Congenital myasthenic syndrome 2C1Feb 24, 2022
Congenital myasthenic syndrome 3B1May 5, 2022
Congenital myasthenic syndrome 4A2Feb 17, 2022
Congenital myasthenic syndrome 4B2Feb 17, 2022
Congenital myasthenic syndrome 4C2Feb 17, 2022
Congenital myotonia, autosomal dominant form1May 5, 2022
Congenital myotonia, autosomal recessive form2May 5, 2022
Congenital secretory sodium diarrhea 81Aug 30, 2021
Congenital stromal corneal dystrophy1May 5, 2022
Congenital syndromic hypopituitarism1May 1, 2023
Conotruncal heart malformations2Sep 15, 2023
Corneal dystrophy, lattice type 3A1May 5, 2022
Cornelia de Lange syndrome 17May 15, 2024
Cornelia de Lange syndrome 32Jul 6, 2022
Cornelia de Lange syndrome 41Feb 17, 2022
Cornelia de Lange syndrome 51May 5, 2022
Cornelia de Lange-like syndrome1Feb 17, 2022
Coronary artery atherosclerosis2May 1, 2023
Coronary artery disease, autosomal dominant 21Dec 5, 2022
Cortical dysplasia, complex, with other brain malformations 101Jul 22, 2021
Cortical dysplasia-focal epilepsy syndrome8Aug 17, 2022
Costello syndrome1Nov 22, 2023
Cowden syndrome 51Feb 5, 2021
Craniofacial dysplasia - osteopenia syndrome1Jul 6, 2022
Craniofacial-deafness-hand syndrome1Jul 6, 2022
Craniosynostosis 42Jul 6, 2022
Creatine transporter deficiency1May 5, 2022
Cutis laxa with osteodystrophy1May 17, 2021
Cutis laxa, X-linked1Nov 22, 2023
Cutis laxa, autosomal dominant 32May 5, 2022
Cystic fibrosis2May 15, 2024
Cystic leukoencephalopathy without megalencephaly1May 17, 2021
D-2-hydroxyglutaric aciduria 11Jul 6, 2022
DDX23-related Neurodevelopmental disorder1Aug 17, 2022
DHX58-associated Neurodevelopmental disorder1Aug 17, 2022
DISP1-related Holoprosencephaly1Nov 21, 2021
DNA ligase IV deficiency1Feb 24, 2022
DNAH14-Associated Neurodevelopmental Disorder2Aug 17, 2022
DNHD1-related Neurodevelopmental Disorder2Feb 24, 2022
DOORS syndrome2Jul 6, 2022
DRD2-associated Dystonia1Jul 6, 2022
DYRK1A-related intellectual disability syndrome1Feb 17, 2022
Dandy-Walker syndrome2Dec 4, 2020
DeSanto-Shinawi syndrome due to WAC point mutation3Aug 17, 2022
Deafness with labyrinthine aplasia, microtia, and microdontia1Sep 15, 2023
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11Jul 6, 2022
Deeah syndrome2Aug 17, 2022
Deficiency of 2-methylbutyryl-CoA dehydrogenase1Jul 22, 2021
Deficiency of alpha-mannosidase1Feb 24, 2022
Deficiency of beta-ureidopropionase2Feb 24, 2022
Deficiency of butyryl-CoA dehydrogenase1Jul 6, 2022
Deficiency of guanidinoacetate methyltransferase1Jul 6, 2022
Deficiency of malonyl-CoA decarboxylase2Jul 22, 2021
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1May 15, 2024
Delayed speech and language development1Jul 31, 2020
Deletion of short arm of chromosome 181Mar 22, 2023
Delpire-McNeill syndrome3May 5, 2022
Desmin-related myofibrillar myopathy2May 5, 2022
Desmosterolosis1Jul 22, 2021
Developmental and epileptic encephalopathy 6B4Nov 22, 2023
Developmental and epileptic encephalopathy 944Aug 17, 2022
Developmental and epileptic encephalopathy, 116Aug 17, 2022
Developmental and epileptic encephalopathy, 122Feb 28, 2022
Developmental and epileptic encephalopathy, 137Jul 6, 2022
Developmental and epileptic encephalopathy, 1411Aug 17, 2022
Developmental and epileptic encephalopathy, 152Aug 30, 2021
Developmental and epileptic encephalopathy, 163Jul 6, 2022
Developmental and epileptic encephalopathy, 173Jul 6, 2022
Developmental and epileptic encephalopathy, 1816Jul 6, 2022
Developmental and epileptic encephalopathy, 194Jul 6, 2022
Developmental and epileptic encephalopathy, 22Nov 21, 2021
Developmental and epileptic encephalopathy, 232Nov 21, 2021
Developmental and epileptic encephalopathy, 243May 5, 2022
Developmental and epileptic encephalopathy, 251Feb 5, 2021
Developmental and epileptic encephalopathy, 265Aug 17, 2022
Developmental and epileptic encephalopathy, 276Aug 17, 2022
Developmental and epileptic encephalopathy, 284Feb 17, 2022
Developmental and epileptic encephalopathy, 302Feb 5, 2021
Developmental and epileptic encephalopathy, 312Feb 24, 2022
Developmental and epileptic encephalopathy, 321Feb 17, 2022
Developmental and epileptic encephalopathy, 332May 5, 2022
Developmental and epileptic encephalopathy, 346Jul 6, 2022
Developmental and epileptic encephalopathy, 372Jul 6, 2022
Developmental and epileptic encephalopathy, 391Feb 5, 2021
Developmental and epileptic encephalopathy, 44May 5, 2022
Developmental and epileptic encephalopathy, 401Feb 17, 2022
Developmental and epileptic encephalopathy, 411May 5, 2022
Developmental and epileptic encephalopathy, 4215Sep 15, 2023
Developmental and epileptic encephalopathy, 433Aug 17, 2022
Developmental and epileptic encephalopathy, 441Nov 22, 2023
Developmental and epileptic encephalopathy, 464Aug 17, 2022
Developmental and epileptic encephalopathy, 474Jul 6, 2022
Developmental and epileptic encephalopathy, 484May 5, 2022
Developmental and epileptic encephalopathy, 494May 5, 2022
Developmental and epileptic encephalopathy, 54Aug 17, 2022
Developmental and epileptic encephalopathy, 502Aug 30, 2021
Developmental and epileptic encephalopathy, 511May 17, 2021
Developmental and epileptic encephalopathy, 531Feb 17, 2022
Developmental and epileptic encephalopathy, 542Feb 24, 2022
Developmental and epileptic encephalopathy, 561Jul 6, 2022
Developmental and epileptic encephalopathy, 573May 5, 2022
Developmental and epileptic encephalopathy, 583Sep 15, 2023
Developmental and epileptic encephalopathy, 592May 5, 2022
Developmental and epileptic encephalopathy, 625Nov 22, 2023
Developmental and epileptic encephalopathy, 646Aug 17, 2022
Developmental and epileptic encephalopathy, 664Feb 17, 2022
Developmental and epileptic encephalopathy, 676Jul 6, 2022
Developmental and epileptic encephalopathy, 6914Aug 17, 2022
Developmental and epileptic encephalopathy, 77Aug 17, 2022
Developmental and epileptic encephalopathy, 708May 5, 2022
Developmental and epileptic encephalopathy, 711Feb 24, 2022
Developmental and epileptic encephalopathy, 722Aug 17, 2022
Developmental and epileptic encephalopathy, 732Aug 30, 2021
Developmental and epileptic encephalopathy, 742Feb 17, 2022
Developmental and epileptic encephalopathy, 762May 5, 2022
Developmental and epileptic encephalopathy, 771Jul 22, 2021
Developmental and epileptic encephalopathy, 782Feb 24, 2022
Developmental and epileptic encephalopathy, 791Jul 6, 2022
Developmental and epileptic encephalopathy, 81Jul 22, 2021
Developmental and epileptic encephalopathy, 801May 17, 2021
Developmental and epileptic encephalopathy, 812Feb 24, 2022
Developmental and epileptic encephalopathy, 861Feb 24, 2022
Developmental and epileptic encephalopathy, 871Jul 6, 2022
Developmental and epileptic encephalopathy, 95Aug 17, 2022
Developmental delay and seizures with or without movement abnormalities1May 17, 2021
Developmental delay with autism spectrum disorder and gait instability5Jul 6, 2022
Developmental delay with or without dysmorphic facies and autism4Jul 6, 2022
Developmental delay with variable intellectual impairment and behavioral abnormalities9Aug 17, 2022
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy2Aug 17, 2022
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures1Nov 22, 2023
Developmental disorder1Feb 24, 2022
Developmental regression1Dec 4, 2020
DiGeorge syndrome3May 15, 2024
Diabetes mellitus type 17Sep 15, 2023
Diabetes mellitus, ketosis-prone2Sep 15, 2023
Diabetes mellitus, permanent neonatal 34Nov 22, 2023
Diabetes mellitus, permanent neonatal 41Dec 5, 2022
Diabetes mellitus, transient neonatal, 11Nov 22, 2023
Diaphragmatic hernia 31May 15, 2024
Dias-Logan syndrome2Jul 6, 2022
Diencephalic-mesencephalic junction dysplasia syndrome 11Feb 5, 2021
Diets-Jongmans syndrome1Jul 22, 2021
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome4Jul 6, 2022
Dihydropyrimidinase deficiency1Aug 17, 2022
Dihydropyrimidine dehydrogenase deficiency1May 17, 2021
Dilated cardiomyopathy 1A6May 1, 2023
Dilated cardiomyopathy 1BB2May 1, 2023
Dilated cardiomyopathy 1C3Nov 22, 2023
Dilated cardiomyopathy 1D4Sep 15, 2023
Dilated cardiomyopathy 1E4Sep 15, 2023
Dilated cardiomyopathy 1EE3Nov 22, 2023
Dilated cardiomyopathy 1FF1Nov 22, 2023
Dilated cardiomyopathy 1G86Nov 22, 2023
Dilated cardiomyopathy 1HH2Dec 5, 2022
Dilated cardiomyopathy 1I4Sep 15, 2023
Dilated cardiomyopathy 1J1Sep 15, 2023
Dilated cardiomyopathy 1KK2Nov 22, 2023
Dilated cardiomyopathy 1L1Sep 15, 2023
Dilated cardiomyopathy 1P2Dec 5, 2022
Dilated cardiomyopathy 1S6Nov 22, 2023
Dilated cardiomyopathy 1W6Sep 15, 2023
Dilated cardiomyopathy 1X1Sep 15, 2023
Dilated cardiomyopathy 1Y3Nov 22, 2023
Dilated cardiomyopathy 2B1Dec 5, 2022
Dilated cardiomyopathy 3B2May 5, 2022
Distal 16p11.2 microdeletion syndrome1May 5, 2022
Distal 7q11.23 microdeletion syndrome1Feb 24, 2022
Distichiasis-lymphedema syndrome1May 15, 2024
Donnai-Barrow syndrome13May 15, 2024
Dopa-responsive dystonia due to sepiapterin reductase deficiency1Feb 17, 2022
Duchenne muscular dystrophy1May 5, 2022
Dyggve-Melchior-Clausen syndrome1Aug 30, 2021
Dyskeratosis congenita, autosomal dominant 21Sep 15, 2023
Dyskeratosis congenita, autosomal recessive 53Sep 15, 2023
Dyskeratosis congenita, autosomal recessive 61May 15, 2024
Dystonia 121Jul 6, 2022
Dystonia 242Sep 15, 2023
Dystonia 28, childhood-onset7Jul 6, 2022
EAST syndrome2May 17, 2021
EEF1D-associated Neurodevelopmental Syndrome1May 5, 2022
EEF2-related Neurodevelopmental disorder1Aug 17, 2022
EIF4A2-related Neurodevelopmental Syndrome1Nov 22, 2023
ERBB4-associated epilepsy syndrome1Aug 17, 2022
ERBB4-related Non-syndromic intellectual disability or epilepsy1Feb 24, 2022
EXOC3L2-related brain malformations and/or renal disease1May 15, 2024
Early-onset parkinsonism-intellectual disability syndrome1Feb 24, 2022
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome2Feb 24, 2022
Ectodermal dysplasia and immunodeficiency 11Feb 24, 2022
Ectopia lentis 1, isolated, autosomal dominant1Feb 24, 2022
Ehlers-Danlos syndrome, classic type, 11Nov 22, 2023
Ehlers-Danlos syndrome, classic type, 22May 15, 2024
Ehlers-Danlos syndrome, kyphoscoliotic type 11Nov 22, 2023
Ehlers-Danlos syndrome, type 41May 1, 2023
Elliptocytosis 21Jul 22, 2021
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization2Jul 6, 2022
Encephalopathy1Oct 13, 2020
Encephalopathy due to GLUT1 deficiency1Feb 5, 2021
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis1Feb 24, 2022
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders2Nov 22, 2023
Epilepsy, childhood absence 21May 17, 2021
Epilepsy, childhood absence, susceptibility to, 52Aug 17, 2022
Epilepsy, childhood absence, susceptibility to, 617Nov 22, 2023
Epilepsy, early-onset1Jul 6, 2022
Epilepsy, early-onset, vitamin B6-dependent3Jul 6, 2022
Epilepsy, early-onset, with or without developmental delay9Aug 17, 2022
Epilepsy, familial adult myoclonic, 11Jul 6, 2022
Epilepsy, familial adult myoclonic, 23Aug 17, 2022
Epilepsy, familial adult myoclonic, 31Jul 6, 2022
Epilepsy, familial adult myoclonic, 43Nov 22, 2023
Epilepsy, familial adult myoclonic, 52Feb 17, 2022
Epilepsy, familial adult myoclonic, 62Aug 17, 2022
Epilepsy, familial adult myoclonic, 71Feb 5, 2021
Epilepsy, familial focal, with variable foci 18May 15, 2024
Epilepsy, familial focal, with variable foci 22Jul 6, 2022
Epilepsy, familial focal, with variable foci 36May 5, 2022
Epilepsy, familial focal, with variable foci 45Nov 22, 2023
Epilepsy, familial temporal lobe, 12Jul 6, 2022
Epilepsy, idiopathic generalized, susceptibility to, 104Aug 17, 2022
Epilepsy, idiopathic generalized, susceptibility to, 111Feb 24, 2022
Epilepsy, idiopathic generalized, susceptibility to, 121Nov 21, 2021
Epilepsy, idiopathic generalized, susceptibility to, 145Jul 6, 2022
Epilepsy, idiopathic generalized, susceptibility to, 151Jul 6, 2022
Epilepsy, idiopathic generalized, susceptibility to, 165Jul 6, 2022
Epilepsy, idiopathic generalized, susceptibility to, 181Nov 22, 2023
Epilepsy, idiopathic generalized, susceptibility to, 81Feb 24, 2022
Epilepsy, idiopathic generalized, susceptibility to, 92Feb 24, 2022
Epilepsy, juvenile myoclonic, susceptibility to, 102Jul 6, 2022
Epilepsy, progressive myoclonic, 111May 5, 2022
Epilepsy, progressive myoclonic, 1B5Feb 24, 2022
Epileptic encephalopathy, infantile or early childhood, 12Feb 24, 2022
Epileptic encephalopathy, infantile or early childhood, 21Jul 6, 2022
Epileptic encephalopathy, infantile or early childhood, 34May 5, 2022
Episodic ataxia type 23Sep 15, 2023
Episodic ataxia type 62Feb 17, 2022
Episodic ataxia, type 91Jul 6, 2022
Episodic kinesigenic dyskinesia 11Feb 24, 2022
Epithelial basement membrane dystrophy1May 5, 2022
Epsilon-trimethyllysine hydroxylase deficiency1Feb 24, 2022
FBRSL1-associated neurodevelopmental syndrome1May 5, 2022
FBXO28-associated epileptic encephalopathy1May 5, 2022
FG syndrome 11Jul 6, 2022
FRAXE1May 5, 2022
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome1Aug 30, 2021
Familial Mediterranean fever, autosomal dominant1May 17, 2021
Familial acute necrotizing encephalopathy3Feb 24, 2022
Familial adenomatous polyposis 12Nov 22, 2023
Familial amyloid nephropathy with urticaria AND deafness1Feb 24, 2022
Familial amyloid neuropathy1May 1, 2023
Familial apolipoprotein C-II deficiency3May 1, 2023
Familial cancer of breast3May 15, 2024
Familial cold autoinflammatory syndrome 11Feb 24, 2022
Familial cold autoinflammatory syndrome 22Feb 24, 2022
Familial cold autoinflammatory syndrome 31Feb 5, 2021
Familial encephalopathy with neuroserpin inclusion bodies1Aug 30, 2021
Familial hemophagocytic lymphohistiocytosis 21Aug 17, 2022
Familial hemophagocytic lymphohistiocytosis 32Feb 17, 2022
Familial hypobetalipoproteinemia 156Nov 22, 2023
Familial hypobetalipoproteinemia 24Sep 15, 2023
Familial hypokalemia-hypomagnesemia1Feb 17, 2022
Familial infantile myoclonic epilepsy2Jul 6, 2022
Familial medullary thyroid carcinoma1Aug 30, 2021
Familial partial lipodystrophy, Dunnigan type7Nov 22, 2023
Familial renal glucosuria10Sep 15, 2023
Familial steroid-resistant nephrotic syndrome with sensorineural deafness1May 5, 2022
Familial temporal lobe epilepsy 57Aug 17, 2022
Familial temporal lobe epilepsy 711Nov 22, 2023
Familial temporal lobe epilepsy 81Feb 24, 2022
Familial type 3 hyperlipoproteinemia4May 1, 2023
Familial type 5 hyperlipoproteinemia2May 1, 2023
Familial visceral amyloidosis, Ostertag type1Dec 5, 2022
Fanconi anemia complementation group C2May 15, 2024
Fanconi anemia complementation group D21Feb 17, 2022
Fanconi anemia complementation group P2Jul 6, 2022
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young2Sep 15, 2023
Fanconi-Bickel syndrome2May 1, 2023
Febrile seizure (within the age range of 3 months to 6 years)1Feb 24, 2022
Febrile seizures, familial, 117Aug 17, 2022
Febrile seizures, familial, 47Aug 17, 2022
Fibrous dysplasia of jaw1Jul 6, 2022
Finnish type amyloidosis1Nov 22, 2023
Fish-eye disease4May 1, 2023
Flexion contracture2Sep 3, 2020
Floating-Harbor syndrome5Feb 24, 2022
Focal impaired awareness seizure2Jul 31, 2020
Focal segmental glomerulosclerosis 91May 5, 2022
Focal-onset seizure2Jul 31, 2020
Fragile X syndrome1Aug 17, 2022
Fumarase deficiency1May 5, 2022
GABRA4-related Epileptic and Neurodevelopmental Disorder1May 1, 2023
GABRE-related epilepsy1Aug 17, 2022
GIGYF1-associated neurodevelopmental disorder1Feb 24, 2022
GNAI1 associated Neurodevelopmental disorder1Aug 17, 2022
Gabriele de Vries syndrome2Feb 17, 2022
Galactosylceramide beta-galactosidase deficiency1Jul 22, 2021
Gallbladder disease 41May 1, 2023
Galloway-Mowat syndrome 2, X-linked2Nov 22, 2023
Galloway-Mowat syndrome 81Feb 5, 2021
Gastroesophageal reflux1Sep 3, 2020
Geleophysic dysplasia 21Feb 24, 2022
Geleophysic dysplasia 31Nov 22, 2023
Generalized epilepsy with febrile seizures plus, type 11Aug 30, 2021
Generalized epilepsy with febrile seizures plus, type 104May 5, 2022
Generalized epilepsy with febrile seizures plus, type 27Nov 22, 2023
Generalized epilepsy with febrile seizures plus, type 75Feb 24, 2022
Generalized epilepsy with febrile seizures plus, type 91Aug 17, 2022
Generalized epilepsy-paroxysmal dyskinesia syndrome7Jul 6, 2022
Genitopatellar syndrome4Jul 6, 2022
Ghosal hematodiaphyseal dysplasia2Jul 22, 2021
Gillespie syndrome1May 1, 2023
Glaucoma 3, primary congenital, E1May 15, 2024
Global developmental delay42Dec 4, 2020
Global developmental delay with or without impaired intellectual development5Aug 17, 2022
Global developmental delay with speech and behavioral abnormalities4Aug 17, 2022
Glycogen storage disease IXb1Feb 24, 2022
Glycogen storage disease due to muscle and heart glycogen synthase deficiency1May 5, 2022
Glycogen storage disorder due to hepatic glycogen synthase deficiency1May 15, 2024
Glycosylphosphatidylinositol biosynthesis defect 151May 17, 2021
Glycosylphosphatidylinositol biosynthesis defect 161Feb 5, 2021
Glycosylphosphatidylinositol biosynthesis defect 211Jul 6, 2022
Gordon syndrome2Nov 22, 2023
Gorlin syndrome3May 5, 2022
Grange syndrome1May 17, 2021
Granulomatous disease, chronic, X-linked1Sep 15, 2023
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 31Nov 21, 2021
Gray platelet syndrome1May 5, 2022
Greenberg dysplasia2Nov 22, 2023
Greig cephalopolysyndactyly syndrome3May 15, 2024
Groenouw corneal dystrophy type I1May 5, 2022
Growth delay due to insulin-like growth factor type 1 deficiency1Dec 5, 2022
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive3Jul 22, 2021
H syndrome1May 5, 2022
HCN2-associated Epilepsy syndrome1May 5, 2022
HMGB1-related Developmental delay and microcephaly1Aug 17, 2022
HSD10 mitochondrial disease1Feb 5, 2021
Hao-Fountain syndrome6Aug 17, 2022
Harel-Yoon syndrome7May 15, 2024
Hb SS disease2Feb 17, 2022
Hearing impairment3Oct 13, 2020
Hearing loss, autosomal dominant 372May 5, 2022
Hearing loss, autosomal recessive 1122Jul 6, 2022
Heart defect - tongue hamartoma - polysyndactyly syndrome3May 1, 2023
Heart, malformation of3Dec 4, 2020
Hemangioma1Oct 13, 2020
Hemochromatosis type 12Nov 22, 2023
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency1Jul 22, 2021
Hereditary diffuse leukoencephalopathy with spheroids1Feb 17, 2022
Hereditary factor VIII deficiency disease1May 15, 2024
Hereditary fructosuria1Nov 21, 2021
Hereditary sensory neuropathy-deafness-dementia syndrome1May 5, 2022
Hereditary spastic paraplegia 172Nov 22, 2023
Hereditary spastic paraplegia 302Aug 17, 2022
Hereditary spastic paraplegia 392May 5, 2022
Hereditary spastic paraplegia 41May 17, 2021
Hereditary spastic paraplegia 71Feb 24, 2022
Hereditary spastic paraplegia 751Feb 17, 2022
Hereditary spastic paraplegia 9A1May 5, 2022
Hermansky-Pudlak syndrome 91Feb 24, 2022
Heterotopia, periventricular, X-linked dominant4Feb 17, 2022
High density lipoprotein cholesterol level quantitative trait locus 128Sep 15, 2023
High density lipoprotein cholesterol level quantitative trait locus 61May 1, 2023
Hirschsprung disease, cardiac defects, and autonomic dysfunction1Feb 24, 2022
Histiocytic medullary reticulosis2May 5, 2022
Hogue-Janssens syndrome 14Aug 17, 2022
Holoprosencephaly 12 with or without pancreatic agenesis1Jul 6, 2022
Holoprosencephaly 13, X-linked1Sep 15, 2023
Holoprosencephaly 21May 5, 2022
Holoprosencephaly 41Feb 24, 2022
Holoprosencephaly 51Feb 17, 2022
Holoprosencephaly 74May 5, 2022
Holoprosencephaly 96Aug 17, 2022
Holoprosencephaly sequence2Feb 24, 2022
Homocystinuria due to methylene tetrahydrofolate reductase deficiency2Jul 6, 2022
Houge-Janssens syndrome 32Jul 6, 2022
Hydrocephalus, congenital communicating, 13Jul 6, 2022
Hydrocephalus, congenital, 3, with brain anomalies4Aug 17, 2022
Hydrocephalus, nonsyndromic, autosomal recessive 13Aug 17, 2022
Hyper-IgE recurrent infection syndrome 4, autosomal recessive1Jul 22, 2021
Hyper-IgM syndrome type 22Feb 17, 2022
Hypercholesterolemia1Sep 3, 2020
Hypercholesterolemia, autosomal dominant, 39May 1, 2023
Hypercholesterolemia, autosomal dominant, type B57May 15, 2024
Hypercholesterolemia, familial, 122May 15, 2024
Hypercholesterolemia, familial, 41May 1, 2023
Hyperekplexia 12Aug 17, 2022
Hyperinsulinemic hypoglycemia, familial, 123Mar 8, 2024
Hyperinsulinemic hypoglycemia, familial, 21May 1, 2023
Hyperinsulinism due to glucokinase deficiency5Sep 15, 2023
Hyperinsulinism-hyperammonemia syndrome3Jul 6, 2022
Hyperlipidemia due to hepatic triglyceride lipase deficiency9Sep 15, 2023
Hyperlipidemia, familial combined, LPL related6May 1, 2023
Hyperlipoproteinemia, type 1D4Sep 15, 2023
Hyperlipoproteinemia, type I5May 1, 2023
Hyperlysinemia1May 17, 2021
Hyperphenylalaninemia due to DNAJC12 deficiency1Jul 6, 2022
Hyperphosphatasia with intellectual disability syndrome 11Feb 17, 2022
Hyperphosphatasia with intellectual disability syndrome 24Aug 17, 2022
Hyperphosphatasia with intellectual disability syndrome 41Feb 17, 2022
Hyperphosphatasia with intellectual disability syndrome 51May 5, 2022
Hyperproinsulinemia2Dec 5, 2022
Hypertrichotic osteochondrodysplasia Cantu type1Feb 17, 2022
Hypertriglyceridemia 12May 1, 2023
Hypertrophic cardiomyopathy 15Nov 22, 2023
Hypertrophic cardiomyopathy 143Nov 22, 2023
Hypertrophic cardiomyopathy 156Sep 15, 2023
Hypertrophic cardiomyopathy 171Nov 22, 2023
Hypertrophic cardiomyopathy 181Dec 5, 2022
Hypertrophic cardiomyopathy 23Sep 15, 2023
Hypertrophic cardiomyopathy 251Sep 15, 2023
Hypertrophic cardiomyopathy 266Nov 22, 2023
Hypertrophic cardiomyopathy 32Nov 22, 2023
Hypertrophic cardiomyopathy 48May 1, 2023
Hypertrophic cardiomyopathy 62Nov 22, 2023
Hypertrophic cardiomyopathy 72Nov 22, 2023
Hypertrophic cardiomyopathy 81Dec 5, 2022
Hypertrophic cardiomyopathy 987Nov 22, 2023
Hyperuricemic nephropathy, familial juvenile type 42Feb 17, 2022
Hypoalphalipoproteinemia, primary, 121Nov 22, 2023
Hypoalphalipoproteinemia, primary, 21Dec 5, 2022
Hypogonadotropic hypogonadism2Feb 17, 2022
Hypogonadotropic hypogonadism 5 with or without anosmia3May 24, 2023
Hypoinsulinemic hypoglycemia and body hemihypertrophy2Nov 22, 2023
Hypomagnesemia, seizures, and intellectual disability 13Aug 17, 2022
Hypomagnesemia, seizures, and intellectual disability 21Nov 22, 2023
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism1Sep 15, 2023
Hypomyelination with brain stem and spinal cord involvement and leg spasticity2Jul 6, 2022
Hypopigmentation, organomegaly, and delayed myelination and development2Feb 17, 2022
Hypoplastic left heart syndrome 21Sep 15, 2023
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome3May 1, 2023
Hypothyroidism1Jul 31, 2020
Hypothyroidism, congenital, nongoitrous, 51Sep 15, 2023
Hypotonia, ataxia, and delayed development syndrome1Jul 22, 2021
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome1Jul 6, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 18Feb 24, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 24Jul 6, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Aug 17, 2022
IGDCC4-related developmental disorder1Feb 24, 2022
ILK-related cardiomyopathy1Nov 22, 2023
IMAGe syndrome1Jul 6, 2022
Ichthyosis vulgaris3Feb 17, 2022
Idiopathic basal ganglia calcification 12Nov 21, 2021
Imagawa-Matsumoto syndrome1Feb 24, 2022
Imerslund-Grasbeck syndrome type 14Aug 17, 2022
Immunodeficiency 11b with atopic dermatitis1Nov 21, 2021
Immunodeficiency 141May 5, 2022
Immunodeficiency 232Feb 24, 2022
Immunodeficiency 331Feb 24, 2022
Immunodeficiency 351Jul 22, 2021
Immunodeficiency 362Jul 6, 2022
Immunodeficiency 451Aug 17, 2022
Immunodeficiency 512Jul 6, 2022
Immunodeficiency 644May 1, 2023
Immunodeficiency 701Nov 22, 2023
Immunodeficiency 752Sep 15, 2023
Immunodeficiency and Autoimmune Enterocolopathy1Jul 6, 2022
Immunodeficiency due to CD25 deficiency1Jul 6, 2022
Immunodeficiency due to MASP-2 deficiency2Jul 6, 2022
Immunodeficiency, common variable, 121Feb 24, 2022
Immunodeficiency, common variable, 23Jul 6, 2022
Immunodeficiency, common variable, 72Feb 24, 2022
Immunoglobulin A deficiency 21Feb 17, 2022
Immunoskeletal dysplasia with neurodevelopmental abnormalities1Feb 5, 2021
Inborn glycerol kinase deficiency1May 5, 2022
Infantile convulsions and choreoathetosis1Feb 24, 2022
Infantile liver failure syndrome 21Nov 22, 2023
Infantile neuroaxonal dystrophy2Feb 24, 2022
Infantile onset spinocerebellar ataxia2Feb 24, 2022
Infantile-onset generalized dyskinesia with orofacial involvement1Aug 30, 2021
Inflammatory bowel disease 11Feb 24, 2022
Inflammatory bowel disease 291Jul 6, 2022
Inflammatory bowel disease, immunodeficiency, and encephalopathy1Nov 21, 2021
Inflammatory skin and bowel disease, neonatal, 11May 17, 2021
Inherited obesity9Nov 22, 2023
Inherited prekallikrein deficiency1Jul 6, 2022
Inherited susceptibility to asthma2May 1, 2023
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1May 1, 2023
Intellectual developmental disorder 591Aug 30, 2021
Intellectual developmental disorder 615Jul 6, 2022
Intellectual developmental disorder 623Jul 6, 2022
Intellectual developmental disorder and retinitis pigmentosa; IDDRP1Jul 22, 2021
Intellectual developmental disorder with autism and macrocephaly3Feb 24, 2022
Intellectual developmental disorder with autistic features and language delay, with or without seizures6May 15, 2024
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures5Jul 6, 2022
Intellectual developmental disorder with cardiac defects and dysmorphic facies1Feb 24, 2022
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities3Jul 6, 2022
Intellectual developmental disorder with dysmorphic facies and ptosis5Sep 15, 2023
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Feb 17, 2022
Intellectual developmental disorder with hypertelorism and distinctive facies2May 5, 2022
Intellectual developmental disorder with hypotonia and behavioral abnormalities1Feb 17, 2022
Intellectual developmental disorder with impaired language and dysmorphic facies2Aug 17, 2022
Intellectual developmental disorder with macrocephaly, seizures, and speech delay1Jul 22, 2021
Intellectual developmental disorder with neuropsychiatric features1Nov 21, 2021
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia8Aug 17, 2022
Intellectual developmental disorder with paroxysmal dyskinesia or seizures1Jul 6, 2022
Intellectual developmental disorder with poor growth and with or without seizures or ataxia3Aug 17, 2022
Intellectual developmental disorder with seizures and language delay10Jul 6, 2022
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy1Jul 6, 2022
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies2Feb 24, 2022
Intellectual developmental disorder, X-linked 1082May 5, 2022
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type1Sep 15, 2023
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly9Jul 6, 2022
Intellectual developmental disorder, autosomal dominant 641Feb 24, 2022
Intellectual developmental disorder, autosomal dominant 651May 5, 2022
Intellectual developmental disorder, autosomal recessive 671Feb 5, 2021
Intellectual developmental disorder, autosomal recessive 681Nov 21, 2021
Intellectual developmental disorder, autosomal recessive 712Nov 21, 2021
Intellectual disability247Feb 17, 2022
Intellectual disability, FRA12A type1Feb 24, 2022
Intellectual disability, X-linked 12Aug 17, 2022
Intellectual disability, X-linked 1001Feb 17, 2022
Intellectual disability, X-linked 1044Aug 17, 2022
Intellectual disability, X-linked 191Aug 17, 2022
Intellectual disability, X-linked 213Jul 6, 2022
Intellectual disability, X-linked 301Jul 6, 2022
Intellectual disability, X-linked 492Jul 6, 2022
Intellectual disability, X-linked 502Nov 22, 2023
Intellectual disability, X-linked 633Jul 6, 2022
Intellectual disability, X-linked 721Feb 24, 2022
Intellectual disability, X-linked 901Jul 6, 2022
Intellectual disability, X-linked 971May 17, 2021
Intellectual disability, X-linked 992May 15, 2024
Intellectual disability, X-linked 99, syndromic, female-restricted3May 15, 2024
Intellectual disability, X-linked syndromic, Turner type8Aug 17, 2022
Intellectual disability, X-linked, syndromic, Houge type3Aug 30, 2021
Intellectual disability, X-linked, with or without seizures, arx-related1May 17, 2021
Intellectual disability, anterior maxillary protrusion, and strabismus2May 5, 2022
Intellectual disability, autosomal dominant 15Nov 22, 2023
Intellectual disability, autosomal dominant 101Aug 17, 2022
Intellectual disability, autosomal dominant 111Feb 17, 2022
Intellectual disability, autosomal dominant 1317May 15, 2024
Intellectual disability, autosomal dominant 1414May 15, 2024
Intellectual disability, autosomal dominant 155Aug 17, 2022
Intellectual disability, autosomal dominant 165Jul 6, 2022
Intellectual disability, autosomal dominant 21Feb 5, 2021
Intellectual disability, autosomal dominant 201May 5, 2022
Intellectual disability, autosomal dominant 222May 5, 2022
Intellectual disability, autosomal dominant 243Feb 24, 2022
Intellectual disability, autosomal dominant 274May 5, 2022
Intellectual disability, autosomal dominant 296Jul 6, 2022
Intellectual disability, autosomal dominant 33Feb 17, 2022
Intellectual disability, autosomal dominant 302Jul 6, 2022
Intellectual disability, autosomal dominant 334Aug 17, 2022
Intellectual disability, autosomal dominant 341Feb 5, 2021
Intellectual disability, autosomal dominant 382May 5, 2022
Intellectual disability, autosomal dominant 396Jul 6, 2022
Intellectual disability, autosomal dominant 402Aug 17, 2022
Intellectual disability, autosomal dominant 414Nov 22, 2023
Intellectual disability, autosomal dominant 423Jul 6, 2022
Intellectual disability, autosomal dominant 4311Aug 17, 2022
Intellectual disability, autosomal dominant 4516Aug 17, 2022
Intellectual disability, autosomal dominant 465Aug 17, 2022
Intellectual disability, autosomal dominant 477Jul 6, 2022
Intellectual disability, autosomal dominant 513Jul 6, 2022
Intellectual disability, autosomal dominant 505Aug 17, 2022
Intellectual disability, autosomal dominant 516Sep 15, 2023
Intellectual disability, autosomal dominant 528Aug 17, 2022
Intellectual disability, autosomal dominant 532Jul 6, 2022
Intellectual disability, autosomal dominant 543Jul 6, 2022
Intellectual disability, autosomal dominant 55, with seizures1Feb 24, 2022
Intellectual disability, autosomal dominant 564Jul 6, 2022
Intellectual disability, autosomal dominant 571Jul 6, 2022
Intellectual disability, autosomal dominant 581May 5, 2022
Intellectual disability, autosomal dominant 66Jul 6, 2022
Intellectual disability, autosomal dominant 81May 5, 2022
Intellectual disability, autosomal dominant 910Nov 22, 2023
Intellectual disability, autosomal recessive 131Feb 24, 2022
Intellectual disability, autosomal recessive 272Feb 17, 2022
Intellectual disability, autosomal recessive 32Feb 17, 2022
Intellectual disability, autosomal recessive 433May 17, 2021
Intellectual disability, autosomal recessive 441Jul 22, 2021
Intellectual disability, autosomal recessive 471Nov 21, 2021
Intellectual disability, autosomal recessive 512May 1, 2023
Intellectual disability, autosomal recessive 522Jul 6, 2022
Intellectual disability, autosomal recessive 541Feb 17, 2022
Intellectual disability, autosomal recessive 572Nov 21, 2021
Intellectual disability, autosomal recessive 62Aug 17, 2022
Intellectual disability, autosomal recessive 641Feb 24, 2022
Intellectual disability, autosomal recessive 651Feb 17, 2022
Intellectual disability, autosomal recessive 71Nov 21, 2021
Intellectual disability, mild2Jul 31, 2020
Intellectual disability-epilepsy-extrapyramidal syndrome5Feb 24, 2022
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency11Aug 17, 2022
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome3Sep 15, 2023
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome10Sep 15, 2023
Intellectual disability-hypotonic facies syndrome, X-linked, 17Aug 17, 2022
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome5May 5, 2022
Intellectual disability-severe speech delay-mild dysmorphism syndrome6Aug 17, 2022
Intestinal hypomagnesemia 11May 17, 2021
Isovaleryl-CoA dehydrogenase deficiency1Feb 5, 2021
JADE2-associated Neurodevelopmental Disorder1Jul 6, 2022
JARID2-associated Neurodevelopmental disorder2Jul 6, 2022
JARID2-related Neurodevelopmental Disorder1Feb 24, 2022
JARID2-related Neurodevelopmental syndrome1May 5, 2022
JMJD1C-associated Neurodevelopmental Disorder5Feb 24, 2022
JMJD1C-related Neurodevelopmental disorder1Jul 6, 2022
Jervell and Lange-Nielsen syndrome 16Nov 22, 2023
Jervell and Lange-Nielsen syndrome 21May 1, 2023
Joint laxity2Dec 4, 2020
Joubert syndrome 172Feb 17, 2022
Joubert syndrome 201Jul 6, 2022
Joubert syndrome 211Nov 21, 2021
Joubert syndrome 232Aug 17, 2022
Joubert syndrome 263Feb 24, 2022
Joubert syndrome 271Feb 5, 2021
Joubert syndrome 2811Sep 15, 2023
Joubert syndrome 31Aug 30, 2021
Joubert syndrome 311Jul 6, 2022
Joubert syndrome 321Nov 22, 2023
Joubert syndrome 404May 1, 2023
Joubert syndrome 523Sep 15, 2023
Joubert syndrome 61May 17, 2021
Joubert syndrome 71Aug 30, 2021
Joubert syndrome 92May 5, 2022
KBG syndrome24Nov 22, 2023
KCND2-associated neurodevelopmental syndrome1Jul 6, 2022
KCNN2-related Neurodevelopmental movement disorder1Feb 24, 2022
KCNQ1-related epilepsy1Feb 24, 2022
KDM5A-associated neurodevelopmental syndrome1Aug 17, 2022
KDM5A-related Neurodevelopmental disorder with autism1Feb 24, 2022
KIF21B-related Neurodevelopmental disorder2May 5, 2022
KINSSHIP syndrome1Jul 6, 2022
Kabuki syndrome 129Aug 17, 2022
Kabuki syndrome 22Jul 6, 2022
Keppen-Lubinsky syndrome1Feb 24, 2022
Keratosis follicularis3Feb 24, 2022
Khan-Khan-Katsanis syndrome2May 5, 2022
Kilquist syndrome2May 5, 2022
King Denborough syndrome3May 5, 2022
Kleefstra syndrome 15May 5, 2022
Kleefstra syndrome 224Nov 22, 2023
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome1Jul 6, 2022
Knobloch syndrome2Nov 21, 2021
Knobloch syndrome 11Nov 22, 2023
Koolen-de Vries syndrome2Jul 6, 2022
Kury-Isidor syndrome1Nov 22, 2023
LAMC1-associated syndrome1May 5, 2022
LAMC1-related autism spectrum disorder1Jul 6, 2022
LEOPARD syndrome 11May 15, 2024
LEOPARD syndrome 23Jul 6, 2022
LEOPARD syndrome 31Aug 17, 2022
LRP1B-associated developmental disorder1Feb 24, 2022
Lafora disease1Jul 6, 2022
Lamb-Shaffer syndrome5Nov 22, 2023
Landau-Kleffner syndrome11Aug 17, 2022
Laron-type isolated somatotropin defect1Nov 22, 2023
Larsen syndrome4Nov 22, 2023
Lateral meningocele syndrome2Nov 22, 2023
Lattice corneal dystrophy Type I1May 5, 2022
Laurence-Moon syndrome2May 5, 2022
Leber congenital amaurosis 1020Sep 15, 2023
Left ventricular noncompaction 11Sep 15, 2023
Left ventricular noncompaction 107May 1, 2023
Left ventricular noncompaction 83Nov 22, 2023
Left ventricular noncompaction cardiomyopathy3Dec 4, 2020
Legius syndrome3Feb 17, 2022
Leigh syndrome2Nov 21, 2021
Lessel-Kreienkamp syndrome2Aug 17, 2022
Lethal Kniest-like syndrome2Aug 17, 2022
Lethal congenital contracture syndrome 41May 17, 2021
Lethal polymalformative syndrome, Boissel type1Jul 22, 2021
Leukodystrophy, hypomyelinating, 19, transient infantile1Feb 17, 2022
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome2Jul 6, 2022
Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome1May 5, 2022
Li-Fraumeni syndrome 12Sep 15, 2023
Li-Ghorbani-Weisz-Hubshman syndrome2Nov 22, 2023
Liang-Wang syndrome5Jul 6, 2022
Lipase deficiency, combined16Nov 22, 2023
Lipoprotein glomerulopathy1Dec 5, 2022
Lissencephaly 101Nov 21, 2021
Lissencephaly 9 with complex brainstem malformation11Jul 6, 2022
Lissencephaly due to LIS1 mutation1Jul 6, 2022
Loeys-Dietz syndrome 22Jul 6, 2022
Long QT syndrome 113May 15, 2024
Long QT syndrome 101Feb 17, 2022
Long QT syndrome 151May 1, 2023
Long QT syndrome 161May 1, 2023
Long QT syndrome 26Nov 22, 2023
Long QT syndrome 35May 15, 2024
Long QT syndrome 52May 1, 2023
Long QT syndrome 62May 1, 2023
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1May 15, 2024
Long qt syndrome 88Sep 15, 2023
Lowe syndrome1Feb 5, 2021
Luscan-Lumish syndrome25Nov 22, 2023
Lymphatic malformation 62May 15, 2024
Lymphatic malformation 71Aug 17, 2022
Lynch syndrome 41May 15, 2024
Lynch syndrome 51Jul 6, 2022
Lysosomal acid lipase deficiency4Nov 22, 2023
MAP2-associated Neurodevelopmental Disorder1May 5, 2022
MAST-associated epilepsy syndrome1May 5, 2022
MAST4-associated generalized epilepsy1Aug 17, 2022
MHC class I deficiency2Feb 24, 2022
MHC class II deficiency3Aug 30, 2021
MICAL1-related Lateral temporal epilepsy3May 1, 2023
MIRAGE syndrome3Jul 6, 2022
MT-CYB associated Exercise intolerance1Jul 6, 2022
MT-CYB associated Mitochondrial myopathy1Jul 6, 2022
MYLK3-associated cardiomyopathy1Sep 15, 2023
Macrocephaly, acquired, with impaired intellectual development3May 5, 2022
Macrocephaly, dysmorphic facies, and psychomotor retardation4Nov 21, 2021
Macrocephaly-autism syndrome1Feb 17, 2022
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome5Jul 6, 2022
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss3Sep 15, 2023
Macular degeneration, early-onset1Sep 15, 2023
Malan overgrowth syndrome3Sep 15, 2023
Malignant hyperthermia, susceptibility to, 51Nov 22, 2023
Mandibulofacial dysostosis-microcephaly syndrome3May 5, 2022
Maple syrup urine disease1Feb 24, 2022
Marfan syndrome3Nov 22, 2023
Marshall syndrome3May 15, 2024
Marshall-Smith syndrome2Sep 15, 2023
Maturity-onset diabetes of the young type 14Sep 15, 2023
Maturity-onset diabetes of the young type 102Dec 5, 2022
Maturity-onset diabetes of the young type 131May 1, 2023
Maturity-onset diabetes of the young type 26Sep 15, 2023
Maturity-onset diabetes of the young type 37Sep 15, 2023
Maturity-onset diabetes of the young type 44May 1, 2023
Maturity-onset diabetes of the young type 61Dec 5, 2022
Maturity-onset diabetes of the young type 89Nov 22, 2023
Maturity-onset diabetes of the young type 98Sep 15, 2023
McKusick-Kaufman syndrome6Sep 15, 2023
Meckel syndrome, type 111Sep 15, 2023
Meckel syndrome, type 101Feb 17, 2022
Meckel syndrome, type 111Jul 6, 2022
Meckel syndrome, type 421Sep 15, 2023
Meckel syndrome, type 62May 5, 2022
Medium-chain acyl-coenzyme A dehydrogenase deficiency1May 5, 2022
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations3Nov 22, 2023
Megabladder, congenital1May 15, 2024
Megacystis-microcolon-intestinal hypoperistalsis syndrome 21May 15, 2024
Megacystis-microcolon-intestinal hypoperistalsis syndrome 52May 15, 2024
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability2Nov 22, 2023
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21Feb 24, 2022
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency3Nov 21, 2021
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency1Aug 30, 2021
Menke-Hennekam syndrome 21Feb 17, 2022
Menkes kinky-hair syndrome3Nov 22, 2023
Merosin deficient congenital muscular dystrophy6May 1, 2023
Metaphyseal anadysplasia 21Feb 24, 2022
Methylcobalamin deficiency type cblE1May 17, 2021
Methylcobalamin deficiency type cblG2Feb 17, 2022
Methylmalonic acidemia with homocystinuria, type cblX3Feb 24, 2022
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant1Nov 22, 2023
Microcephalic osteodysplastic dysplasia, Saul-Wilson type1Feb 17, 2022
Microcephalic primordial dwarfism due to RTTN deficiency3Feb 17, 2022
Microcephalic primordial dwarfism due to ZNF335 deficiency2Feb 24, 2022
Microcephaly6Dec 4, 2020
Microcephaly 1, primary, autosomal recessive1Jul 6, 2022
Microcephaly 18, primary, autosomal dominant10Jul 6, 2022
Microcephaly 4, primary, autosomal recessive2Aug 17, 2022
Microcephaly 5, primary, autosomal recessive5May 5, 2022
Microcephaly 6, primary, autosomal recessive2Jul 6, 2022
Microcephaly 8, primary, autosomal recessive1Feb 17, 2022
Microcephaly 9, primary, autosomal recessive1Feb 24, 2022
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1Aug 30, 2021
Microcephaly, epilepsy, and diabetes syndrome1Aug 30, 2021
Microcephaly, growth deficiency, seizures, and brain malformations1May 17, 2021
Microcephaly, seizures, and developmental delay3Feb 24, 2022
Microcephaly, short stature, and limb abnormalities1Feb 24, 2022
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome3Feb 17, 2022
Microcephaly-micromelia syndrome1Feb 24, 2022
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8Jul 6, 2022
Microphthalmia, isolated, with coloboma 92Nov 22, 2023
Microphthalmia, syndromic 11May 5, 2022
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma1Nov 22, 2023
Migraine, familial hemiplegic, 13Sep 15, 2023
Migraine, familial hemiplegic, 23Jul 6, 2022
Migraine, familial hemiplegic, 32Aug 17, 2022
Migraine, with or without aura, susceptibility to, 131Jul 6, 2022
Mismatch repair cancer syndrome 11Feb 17, 2022
Mitchell syndrome1Feb 17, 2022
Mitochondrial DNA depletion syndrome 16 (hepatic type)2Feb 24, 2022
Mitochondrial DNA depletion syndrome 4b1Nov 22, 2023
Mitochondrial DNA depletion syndrome, myopathic form1May 15, 2024
Mitochondrial complex 1 deficiency, nuclear type 111Aug 30, 2021
Mitochondrial complex 1 deficiency, nuclear type 191Jul 6, 2022
Mitochondrial complex 1 deficiency, nuclear type 221Feb 24, 2022
Mitochondrial complex 1 deficiency, nuclear type 261Feb 5, 2021
Mitochondrial complex 1 deficiency, nuclear type 331May 17, 2021
Mitochondrial complex 1 deficiency, nuclear type 41Feb 5, 2021
Mitochondrial complex II deficiency, nuclear type 11Feb 5, 2021
Mitochondrial complex IV deficiency, nuclear type 11Jul 22, 2021
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 12Jul 6, 2022
Mitochondrial disease2May 15, 2024
Mitochondrial trifunctional protein deficiency 11May 15, 2024
Monosomy 7 myelodysplasia and leukemia syndrome 11May 5, 2022
Mowat-Wilson syndrome3May 5, 2022
Moyamoya disease 25Jul 6, 2022
Mucocutaneous ulceration, chronic1Feb 24, 2022
Mucopolysaccharidosis type 71Feb 24, 2022
Mucopolysaccharidosis, MPS-II1Nov 22, 2023
Mucopolysaccharidosis, MPS-III-A1Jul 6, 2022
Mucopolysaccharidosis, MPS-III-B4Feb 17, 2022
Mucopolysaccharidosis, MPS-III-C1Feb 5, 2021
Mullegama-Klein-Martinez syndrome1Sep 15, 2023
Multiple congenital anomalies-hypotonia-seizures syndrome 21Feb 5, 2021
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked1Jul 6, 2022
Multiple endocrine neoplasia, type 11Dec 5, 2022
Multiple mitochondrial dysfunctions syndrome 64Feb 24, 2022
Muscular dystrophy, limb-girdle, autosomal recessive 236May 1, 2023
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41Feb 24, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A12May 15, 2024
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A141Feb 17, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A24May 15, 2024
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A52Nov 22, 2023
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B12May 15, 2024
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B141Feb 17, 2022
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B24May 15, 2024
Muscular dystrophy-dystroglycanopathy type B52Nov 22, 2023
Myasthenic syndrome, congenital, 24, presynaptic1Aug 30, 2021
Myoclonic dystonia 111Jul 6, 2022
Myoclonic epilepsy, juvenile, susceptibility to, 12Feb 17, 2022
Myoclonic-astatic epilepsy8Jul 6, 2022
Myoclonus, familial, 21May 5, 2022
Myofibrillar myopathy 61Dec 5, 2022
Myopathy, congenital, with tremor1May 17, 2021
Myopathy, tubular aggregate, 11Nov 22, 2023
NCKAP1-associated Neurodevelopmental disorder1Jul 6, 2022
NCOR1-related autism spectrum disorder1May 5, 2022
NEBL-related Cardiomyopathy1Sep 15, 2023
NRXN1-related Complex neurodevelopmental disorder1Jul 6, 2022
NRXN2-associated Neurodevelopmental disorder1Feb 28, 2022
NRXN2-related Austism Spectrum Disorder1Feb 24, 2022
NRXN2-related autism spectrum disorder1May 5, 2022
Nager syndrome1Jul 6, 2022
Nance-Horan syndrome2Jul 6, 2022
Naxos disease2May 1, 2023
Nemaline myopathy 22Nov 22, 2023
Neonatal diabetes mellitus with congenital hypothyroidism15May 1, 2023
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome1Aug 17, 2022
Netherton syndrome3Feb 17, 2022
Neurodegeneration with brain iron accumulation 2B2Feb 24, 2022
Neurodegeneration with brain iron accumulation 51Feb 5, 2021
Neurodegeneration with brain iron accumulation 61Feb 5, 2021
Neurodegeneration with brain iron accumulation 81Feb 17, 2022
Neurodevelopmental disorder6May 5, 2022
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity2Feb 17, 2022
Neurodevelopmental disorder with absent language and variable seizures1Feb 24, 2022
Neurodevelopmental disorder with alopecia and brain abnormalities3Jul 6, 2022
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter2May 15, 2024
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies4May 5, 2022
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies2Feb 24, 2022
Neurodevelopmental disorder with central and peripheral motor dysfunction5Aug 17, 2022
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures4Jul 6, 2022
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities10Aug 17, 2022
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia1Jul 6, 2022
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies2Jul 6, 2022
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies6Sep 15, 2023
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia2Aug 17, 2022
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities1May 5, 2022
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination2May 5, 2022
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy1Feb 24, 2022
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities4Aug 17, 2022
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures4Nov 22, 2023
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation2Feb 24, 2022
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness5Feb 24, 2022
Neurodevelopmental disorder with hypotonia, seizures, and absent language3Jul 6, 2022
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia1Nov 21, 2021
Neurodevelopmental disorder with impaired speech and hyperkinetic movements2Feb 24, 2022
Neurodevelopmental disorder with involuntary movements3Jul 6, 2022
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures1Nov 22, 2023
Neurodevelopmental disorder with language impairment and behavioral abnormalities1May 17, 2021
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities1Feb 24, 2022
Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity1Feb 17, 2022
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy1Feb 24, 2022
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities1May 5, 2022
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities2May 5, 2022
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy4May 5, 2022
Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis1May 15, 2024
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features8Aug 17, 2022
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures6Aug 17, 2022
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart13Sep 15, 2023
Neurodevelopmental disorder with or without autism or seizures1May 5, 2022
Neurodevelopmental disorder with or without early-onset generalized epilepsy3Jul 6, 2022
Neurodevelopmental disorder with or without seizures and gait abnormalities2Jul 6, 2022
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA5May 5, 2022
Neurodevelopmental disorder with poor language and loss of hand skills1May 5, 2022
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1Aug 17, 2022
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures9Aug 17, 2022
Neurodevelopmental disorder with seizures and brain atrophy2Aug 17, 2022
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements7Feb 17, 2022
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities1Feb 24, 2022
Neurodevelopmental disorder with severe motor impairment and absent language6May 5, 2022
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures1May 17, 2021
Neurodevelopmental disorder with speech impairment and dysmorphic facies3Aug 17, 2022
Neurodevelopmental disorder with speech impairment and with or without seizures1Nov 22, 2023
Neurodevelopmental disorder with variable cerebral and eye anomalies1May 1, 2023
Neurodevelopmental disorder with visual defects and brain anomalies3Jul 6, 2022
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities1Aug 17, 2022
Neurofibromatosis, type 16Nov 22, 2023
Neurofibromatosis, type 23Jul 6, 2022
Neurofibromatosis-Noonan syndrome2Feb 24, 2022
Neurogenic scapuloperoneal syndrome, Kaeser type1May 5, 2022
Neuromuscular disease and ocular or auditory anomalies with or without seizures1Jul 6, 2022
Neuronal ceroid lipofuscinosis 11May 17, 2021
Neuronal ceroid lipofuscinosis 111Feb 5, 2021
Neuronal ceroid lipofuscinosis 22Feb 17, 2022
Neuronal ceroid lipofuscinosis 31Feb 17, 2022
Neuronal ceroid lipofuscinosis 83Feb 24, 2022
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1Feb 24, 2022
Neuronopathy, distal hereditary motor, type 5C2Nov 22, 2023
Neuroocular syndrome1Aug 17, 2022
Neurooculocardiogenitourinary syndrome2Feb 24, 2022
Neuropathy, hereditary sensory, type 2C2Aug 17, 2022
Neutral 1 amino acid transport defect2May 5, 2022
Nicolaides-Baraitser syndrome5Jul 6, 2022
Niemann-Pick disease, type A2Feb 17, 2022
Niemann-Pick disease, type B1Feb 17, 2022
Niemann-Pick disease, type C13Feb 24, 2022
Nizon-Isidor syndrome7Jul 6, 2022
Non-ketotic hyperglycinemia4Feb 24, 2022
Noonan syndrome 15May 15, 2024
Noonan syndrome 102Jul 6, 2022
Noonan syndrome 23Jul 6, 2022
Noonan syndrome 45Aug 17, 2022
Noonan syndrome 54Jul 6, 2022
Noonan syndrome 61Feb 24, 2022
Noonan syndrome 72Aug 17, 2022
Noonan syndrome 81Aug 30, 2021
Noonan syndrome 95Sep 15, 2023
Noonan syndrome-like disorder with loose anagen hair 11Jul 6, 2022
Norman-Roberts syndrome5Nov 22, 2023
Norum disease4May 1, 2023
O'Donnell-Luria-Rodan syndrome5May 5, 2022
Obesity7Dec 5, 2022
Obesity due to CEP19 deficiency1May 1, 2023
Obesity due to leptin receptor gene deficiency7Sep 15, 2023
Obesity due to pro-opiomelanocortin deficiency5Sep 15, 2023
Obesity due to prohormone convertase I deficiency5Sep 15, 2023
Obesity with Prader-Willi like phenotype1Dec 5, 2022
Obesity, hyperphagia, and developmental delay3Sep 15, 2023
Occipital pachygyria and polymicrogyria5Aug 17, 2022
Oculocutaneous albinism type 1B1May 15, 2024
Oculodentodigital dysplasia1May 15, 2024
Oculofaciocardiodental syndrome2Jul 6, 2022
Odonto-onycho-dermal dysplasia1Sep 15, 2023
Ogden syndrome1May 5, 2022
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1May 17, 2021
Orofacial cleft 11Sep 15, 2023
Orofaciodigital syndrome 171Feb 17, 2022
Orofaciodigital syndrome type 141Aug 30, 2021
Orofaciodigital syndrome type 62Feb 17, 2022
Orthostatic hypotension 11May 15, 2024
Otofaciocervical syndrome 11May 15, 2024
Otofaciocervical syndrome 21Aug 30, 2021
PEHO syndrome1Nov 21, 2021
PGLYRP3-associated inflamatory bowel disease1Jul 6, 2022
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome5May 1, 2023
PIDD1-associated neurodevelopmental disorder2Jul 6, 2022
PIK3AP1-Associated Seizure Disorder1Jul 6, 2022
PIK3AP1-related early onset epileptic encephalopathy1Jul 6, 2022
PLXNA1-associated encephalopathy1Feb 24, 2022
PLXNA1-related Neurodevelopmental disorder with variable cerebral and eye anomalies1Jul 6, 2022
PLXNA3-associated seizure disorder1Feb 24, 2022
PLXNB3-related Intellectual disability1Jul 6, 2022
PPARG-related familial partial lipodystrophy2May 1, 2023
PPP1R13L-associated cardiac phenotype1Jul 6, 2022
PPR12-associated neurodevelopmental disorder1Jul 6, 2022
PRICKLE2-associated epilepsy syndrome1May 5, 2022
PRR12-associated Intellectual Disability1May 5, 2022
PRR12-related neuroocular syndrome1Jul 6, 2022
PTPRT-associated neurodevelopmentaldisorder1Jul 6, 2022
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures1Feb 24, 2022
Pachyonychia congenita 31Nov 22, 2023
Paganini-Miozzo syndrome3Aug 30, 2021
Pallister-Hall syndrome2May 15, 2024
Pancreatic agenesis 11May 1, 2023
Pancreatic agenesis 26Sep 15, 2023
Pancytopenia due to IKZF1 mutations2Feb 24, 2022
Pancytopenia-developmental delay syndrome1Aug 17, 2022
Paragangliomas 31May 17, 2021
Paragangliomas 41Feb 5, 2021
Parenti-mignot neurodevelopmental syndrome1Aug 17, 2022
Parkinsonism-dystonia, infantile, 21May 17, 2021
Paroxysmal extreme pain disorder1Jul 6, 2022
Paroxysmal nonkinesigenic dyskinesia 11Jul 22, 2021
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome3Sep 15, 2023
Patent ductus arteriosus 22May 1, 2023
Peeling skin syndrome 11Jul 22, 2021
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome2Nov 22, 2023
Pelger-Huët anomaly1Feb 17, 2022
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1Sep 15, 2023
Periventricular nodular heterotopia 62Feb 17, 2022
Periventricular nodular heterotopia 76Aug 17, 2022
Periventricular nodular heterotopia 99Aug 17, 2022
Permanent neonatal diabetes mellitus 11Dec 5, 2022
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome5Sep 15, 2023
Perrault syndrome 11May 5, 2022
Perrault syndrome 52Feb 24, 2022
Pettigrew syndrome1Feb 5, 2021
Phelan-McDermid syndrome5Jul 6, 2022
Phenylketonuria6Aug 17, 2022
Pheochromocytoma2May 1, 2023
Pierpont syndrome2Nov 22, 2023
Pigmented nodular adrenocortical disease, primary, 21Feb 24, 2022
Pilarowski-Bjornsson syndrome5May 5, 2022
Pitt-Hopkins syndrome5Nov 22, 2023
Pitt-Hopkins-like syndrome 22Nov 21, 2021
Pityriasis rubra pilaris1Jul 6, 2022
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease1Aug 30, 2021
Poirier-Bienvenu neurodevelopmental syndrome1May 5, 2022
Polycystic kidney disease, adult type3May 15, 2024
Polydactyly, postaxial, type A11May 15, 2024
Polyglandular autoimmune syndrome, type 13May 17, 2021
Polymicrogyria, bilateral perisylvian, autosomal recessive1May 5, 2022
Polysyndactyly 41May 15, 2024
Pontocerebellar hypoplasia type 1B1Jul 22, 2021
Pontocerebellar hypoplasia type 2D1Jul 6, 2022
Pontocerebellar hypoplasia type 33Aug 17, 2022
Pontocerebellar hypoplasia type 61Jul 22, 2021
Pontocerebellar hypoplasia type 81Jul 22, 2021
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal2May 15, 2024
Pontocerebellar hypoplasia, type 141Aug 17, 2022
Porencephaly 214Nov 22, 2023
Porokeratosis 7, multiple types1Feb 24, 2022
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome5Aug 17, 2022
Primary ciliary dyskinesia 142Feb 17, 2022
Primary ciliary dyskinesia 38May 15, 2024
Primary ciliary dyskinesia 351Jul 22, 2021
Primary ciliary dyskinesia 52Jul 22, 2021
Primary ciliary dyskinesia 76May 15, 2024
Primary dilated cardiomyopathy9Sep 15, 2023
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency1Jul 22, 2021
Primrose syndrome2May 15, 2024
Progeroid and marfanoid aspect-lipodystrophy syndrome1Feb 24, 2022
Progressive congenital scoliosis2Oct 13, 2020
Progressive demyelinating neuropathy with bilateral striatal necrosis1Jul 22, 2021
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11Nov 22, 2023
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 41Feb 24, 2022
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11Nov 22, 2023
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 31May 15, 2024
Progressive familial heart block, type 1A1Sep 15, 2023
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome3Sep 15, 2023
Progressive myoclonic epilepsy type 31Aug 30, 2021
Progressive myoclonic epilepsy type 91Feb 17, 2022
Progressive osseous heteroplasia2May 1, 2023
Progressive sclerosing poliodystrophy1Nov 22, 2023
Prolonged QT interval2Dec 4, 2020
Propionic acidemia2Nov 22, 2023
Proteasome-associated autoinflammatory syndrome 41Feb 24, 2022
Proteinuria, chronic benign2Aug 17, 2022
Prune belly syndrome1Jul 6, 2022
Pseudohypoparathyroidism type 1B13Sep 15, 2023
Pseudohypoparathyroidism type 1C13Sep 15, 2023
Pseudohypoparathyroidism type I A13Sep 15, 2023
Pseudopseudohypoparathyroidism10Sep 15, 2023
Pseudoxanthoma elasticum, forme fruste1May 5, 2022
Psoriasis 21Jul 6, 2022
Psychomotor retardation, epilepsy, and craniofacial dysmorphism1Feb 17, 2022
Pulmonary arterial hypertension2May 15, 2024
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 11Sep 15, 2023
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 31Sep 15, 2023
Pulmonary hypertension, primary, 21Jul 6, 2022
Pulmonary hypertension, primary, 33Sep 15, 2023
Pulmonic stenosis2Dec 4, 2020
Pyogenic bacterial infections due to MyD88 deficiency2Feb 17, 2022
Pyridoxal phosphate-responsive seizures2Jul 6, 2022
Pyridoxine-dependent epilepsy2Feb 17, 2022
Pyruvate dehydrogenase E1-alpha deficiency2May 15, 2024
Pyruvate dehydrogenase E3-binding protein deficiency1May 17, 2021
Quebec platelet disorder1Jul 6, 2022
RASopathy2Aug 17, 2022
RYR3-related Epileptic encephalopathy7Aug 17, 2022
Radio-Tartaglia syndrome3Jul 6, 2022
Radioulnar synostosis with amegakaryocytic thrombocytopenia 21May 15, 2024
Rafiq syndrome4Feb 17, 2022
Rahman syndrome1Jul 6, 2022
Rauch-Steindl syndrome1May 15, 2024
Recurrent infections1Oct 13, 2020
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome2Aug 17, 2022
Regressive spondylometaphyseal dysplasia2Nov 22, 2023
Reis-Bucklers' corneal dystrophy1May 5, 2022
Renal coloboma syndrome1Jul 22, 2021
Renal cysts and diabetes syndrome2Dec 5, 2022
Renal hypomagnesemia 21Jul 6, 2022
Restrictive dermopathy 21May 1, 2023
Retinal arterial tortuosity1Nov 22, 2023
Retinal dystrophy and obesity15Nov 22, 2023
Retinitis pigmentosa 551Sep 15, 2023
Retinitis pigmentosa 7112Sep 15, 2023
Retinitis pigmentosa 746Nov 22, 2023
Retinitis pigmentosa 801Nov 22, 2023
Rett syndrome4Aug 17, 2022
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome2Jul 6, 2022
Rothmund-Thomson syndrome type 21May 15, 2024
Rubinstein-Taybi syndrome due to CREBBP mutations11Aug 17, 2022
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency6Aug 17, 2022
SATB1-related neurodevelopmental disorder1Feb 24, 2022
SCAF4-associated Neurodevelopmental disorder1Jul 6, 2022
SEMA5A-associated Neurodevelopmental syndrome1Jul 6, 2022
SETD2 associated neurodevelopmental disorder with multiple congenital anomalies1May 15, 2024
SHANK1-related Neurodevelopmental Disorder1Nov 22, 2023
SHANK2-related Complex neurodevelopmental disorder1Jul 6, 2022
SHORT syndrome2Jul 6, 2022
SIM1-associated metabolic syndrome3Sep 15, 2023
SIM1-related obesity1May 1, 2023
SIN3A-related intellectual disability syndrome due to a point mutation8Aug 17, 2022
SNX25-related autism spectrum disorder1Jul 6, 2022
SORBS1-associated Hirschsprung disease1Feb 24, 2022
SRGAP2-associated Neurodevelopmental Disorder1Jul 6, 2022
SRRM2-related Neurodevelopmental disorder1Jul 6, 2022
SSR4-congenital disorder of glycosylation1Jul 6, 2022
STARD9-related Intellectual Disability1Feb 17, 2022
STING-associated vasculopathy with onset in infancy1Nov 21, 2021
Saethre-Chotzen syndrome1May 5, 2022
Saldino-Mainzer syndrome1Nov 22, 2023
Salla disease3Feb 24, 2022
Sarcotubular myopathy4Sep 15, 2023
SchC6pf-Schulz-Passarge syndrome1Sep 15, 2023
Schaaf-Yang syndrome14Nov 22, 2023
Schinzel-Giedion syndrome2Jul 6, 2022
Schizencephaly2Jul 6, 2022
Schuurs-Hoeijmakers syndrome8Nov 22, 2023
Schwartz-Jampel syndrome type 12Aug 17, 2022
Seckel syndrome 11May 17, 2021
Seckel syndrome 51Feb 24, 2022
Secondary microcephaly2Dec 4, 2020
See cases101Jul 6, 2022
Seizure281Feb 24, 2022
Seizures, benign familial infantile, 22Feb 24, 2022
Seizures, benign familial infantile, 34Jul 6, 2022