Last updated April 2025

  • 6,063

    Participant records

  • 3,448

    Participants deep-phenotyped

  • 3,617

    Unique HPO terms tagged in participants

  • 6,720

    Exome sequencing datasets

  • 1,399

    Whole genome sequencing datasets

  • 276

    RNA sequencing datasets

Candidate genes in Genomics4RD

A2ML1

AARS2

ABCA13

ABCA4

ABCC6

ABHD16A

ABR

ACACB

ACAN

ACO2

ACTA1

ACTC1

ACTN1

ACTN4

ACTR1A

ACY1

ADA2

ADAM23

ADAT3

ADCY1

ADCY5

ADCY8

ADGRL2

ADGRV1

ADNP

AFF2

AFG3L2

AGAP2

AGO1

AHDC1

AHNAK2

AIMP1

ALDH18A1

ALDH5A1

ALG2

ALS2

AMBRA1

AMPD2

ANKFY1

ANKRD12

ANKRD17

ANXA11

AP1G1

AP3B2

AP4E1

APAF1

APLP1

APOB

ARF1

ARFGEF3

ARHGAP35

ARHGAP45

ARHGEF1

ARHGEF10

ARHGEF7

ARID2

ARID3B

ARID4A

ARID5B

ARMC9

ARMCX3

ARMCX5

ARMCX6

ARS1

ASB2

ASH1L

ASPM

ASXL3

ATAD3A

ATL1

ATM

ATP13A1

ATP1A1

ATP1A2

ATP1A3

ATP1B1

ATP6V0D2

ATP7A

ATP7B

ATP8A2

AUTS2

BAZ1A

BAZ2A

BCAR3

BCL6

BCL9

BCOR

BCORL1

BICD2

BICRA

BMP2

BMP6

BMT2

BRAF

BSCL2

BSG

BTD

C12orf57

C2orf74

C4orf50

CABP1

CACNA1A

CACNA1D

CACNA1H

CACNA1S

CACNA2D2

CAMK4

CAPN6

CAPZB

CASKIN2

CBL

CC2D1A

CC2D2A

CCAR2

CCDC22

CCDC78

CCDC88C

CCT5

CDC16

CDC42EP4

CDC6

CDK20

CDON

CELF2

CELSR3

CEMIP

CENPJ

CEP120

CEP295

CEP85L

CFH

CHAMP1

CHD2

CHD4

CHD6

CHD7

CHRM5

CHST7

CHTOP

CIC

CKAP5

CLCN1

CLCN4

CLP1

CLTC

CNOT2

CNPY3

CNTNAP1

CNTNAP2

COG5

COL12A1

COL17A1

COL1A1

COL1A2

COL2A1

COL3A1

COL4A1

COL4A2

COL5A1

COL5A2

COL6A1

COL6A2

COL6A3

COPB2

CPA6

CRB2

CRB3

CRLS1

CRTC3

CRYBB2

CSMD2

CSMD3

CSNK1A1

CSNK1G1

CSTF2

CTC1

CTNNB1

CTNND1

CTR9

CUL9

CXCR1

DDX3X

DDX6

DENND2C

DESI2

DGKQ

DHCR7

DHFR

DHPS

DHRSX

DHX37

DIAPH1

DIP2B

DIP2C

DKC1

DLK1

DMD

DMRT2

DMXL2

DNA2

DNAAF2

DNAH7

DNMT3A

DOCK3

DOCK4

DPP10

DSC2

DSG2

DTHD1

DYNC1H1

DYNC1I1

DYNC1LI1

DYRK1A

DYSF

EBF2

EBF3

ECPAS

EEF2

EGF

EHBP1L1

EIF2B1

EIF4B

EIF5

ELAVL2

ELFN2

ELOVL4

ELOVL5

EP300

EPB41L1

EPHA5

EPHB4

EPRS

ERBB3

ERCC6

ESCO2

ESRRB

ETAA1

ETFB

ETFDH

EXOC1

EXOC6

EZH2

FAM49B

FANCA

FANCB

FANCI

FASLG

FBL

FBN1

FBP1

FBXO45

FCHO2

FER1L6

FEZ2

FGF2

FGFR1

FGFR3

FH

FIG4

FLG

FLNA

FLNA

FLNC

FMN2

FMNL2

FN1

FNBP4

FOXB2

FOXC1

FOXP4

FREM3

FRY

FRYL

FTCD

FXYD5

G6PD

GABBR1

GABBR2

GAL3ST1

GARS

GATA4

GBA

GCH1

GDF1

GDF15

GDF3

GDF5

GEMIN4

GGNBP2

GHITM

GJB2

GLI2

GLI3

GLYR1

GNA1

GNB2

GNE

GNPTAB

GOLGB1

GP1BA

GPAA1

GPC4

GPR150

GPRASP2

GRIA4

GRIK2

GRIN2B

GSG1L

GTF3C1

GUCY1A2

GUF1

HAPLN1

HCN3

HCN4

HDAC4

HDAC7

HEATR5B

HERC1

HERC2

HEXB

HGSNAT

HIRIP3

HIST1H4H

HIST1H4I

HRAS

HS6ST2

HSPBP1

HTR1E

HTT

HUS1

HUWE1

IDUA

IER5L

IGFBP3

IGFBP5

IL6R

IL6ST

INF2

INO80

INPPL1

INSIG1

INTS13

INTU

IPO13

IPPK

IQSEC2

ITGAM

ITGAV

ITPR1

ITPR3

ITPRID2

ITSN1

IVD

JAKMIP1

JARID2

KCND3

KCNG1

KCNJ12

KCNN2

KCNQ1

KCNQ5

KDM1A

KDM2A

KDM4B

KDM5B

KDM7A

KEAP1

KIAA0391

KIAA1841

KIF1A

KIF1C

KIF21B

KIF27

KIF7

KLB

KLHL20

KMT2A

KMT2B

KMT2C

KMT2D

KMT2E

KMT5B

KRI1

KRIT1

L1CAM

LAMA1

LAMA2

LAMA5

LAMC1

LARP1

LARS

LGI2

LHX2

LMNA

LMOD1

LMTK2

LMTK3

LMX1B

LONP1

LRP1

LRP4

LRRK2

LSS

LYST

MAGED1

MAGEL2

MAML3

MAP1A

MAP2

MAP3K12

MAP4K4

MAP7D2

MAPK7

MAPK8IP3

MARCH6

MBD6

MBOAT7

MBTD1

MCCC1

MCF2

MCM6

MCTP2

MDN1

MECP2

MED14

MED20

MED25

MFN2

MFSD14B

MGAT1

MGP

MIB1

MICAL1

MICAL3

MIPEP

MLF1

MLLT1

MLYCD

MMACHC

MMEL1

MNT

MOBP

MORN5

MOSMO

MPP7

MSH2

MSL2

MTA1

MTFMT

MTG2

MT-RNR1

MYBPC3

MYH11

MYH14

MYH7

MYO18A

MYO6

MYO7A

MYO9B

MYOF

MYOT

MYPN

N4BP2

NADK

NAGA

NARS

NAXE

NBEA

NCOR1

NDUFAF8

NDUFB5

NDUFS8

NDUFV1

NEB

NEDD4

NEK1

NELL2

NEU1

NEXMIF

NF1

NFASC

NFKBIA

NHLRC2

NIPBL

NLGN3

NOTCH1

NOTCH3

NPAS1

NPC1

NPRL3

NR2F1

NRG1

NRG2

NRP2

NRTK2

NRXN1

NRXN3

NSMF

NTN1

NUP153

OBSL1

OGDHL

OSBP2

OTC

OTOF

P2RX4

P3H1

P4HA2

PACSIN3

PAPOLA

PAPOLG

PARS2

PCDH10

PCDH11X

PCDH19

PCDHAC2

PCDHGC4

PCF11

PDE11A

PDE4B

PDE9A

PDHA1

PELP1

PEX5

PEX7

PFAS

PFKL

PGK1

PHACTR1

PHC3

PHLPP1

PHOSPHO1

PIEZO1

PIGG

PIK3C2A

PIK3CA

PITPNM2

PITX1

PKD1

PKHD1

PKP2

PKP4

PLA2G4E

PLA2G6

PLEK2

PLEKHA7

PLXNA1

PLXNB2

PLXNB3

PMM2

PNPLA6

POFUT1

POGZ

POLG

POLR1A

POLR3A

POLR3B

POMGNT1

POMT2

POU3F2

POU3F3

PPFIA3

PPP1R8

PPP2R3B

PPP4C

PPP6R1

PQBP1

PREP

PRKCG

PRKRA

PROS1

PRPF6

PRPS1

PRRC2A

PRUNE1

PTCH1

PTDSS2

PTEN

PTOV1

PTPN13

PTPN4

PTPRM

PTPRS

PTPRZ1

PUM1

PUM2

PURA

PUS10

PYGM

QDPR

RABGAP1

RAPGEF2

RARA

RASA2

RBBP4

RBBP8

RBM10

RBM39

RBM8A

RCC1

REL

RELN

RERE

RET

RETSAT

REV3L

RHOA

RHOBTB1

RICTOR

RIMS1

RIMS2

RNASEH2B

RNF20

RNF208

ROBO1

ROBO2

ROR2

RORA

RPGRIP1L

RPL5

RRAGC

RSAD1

RSL1D1

RTF1

RUSC1

RYR1

RYR2

RYR3

SACS

SAMHD1

SBNO1

SCAI

SCN1A

SCN1B

SCN3A

SCN7A

SDK1

SEPT2

SERPING1

SETBP1

SETD1B

SETD2

SETX

SF1

SFXN1

SGSH

SH3KBP1

SHANK1

SHANK2

SHANK3

SHROOM4

SI

SIK2

SIL1

SIPA1L3

SIX3

SLAIN2

SLC12A6

SLC15A2

SLC18A3

SLC25A20

SLC25A46

SLC26A2

SLC33A1

SLC35E3

SLC38A5

SLC39A8

SLC45A2

SLC4A4

SLC5A2

SLC8A2

SLC9A7

SMAD3

SMAD5

SMARCA2

SMARCC2

SMCHD1

SMG1

SMN1

SNAPC3

SNPH

SNRNP70

SNX18

SOCS4

SOGA3

SORBS3

SOS1

SOS2

SOX12

SOX8

SPAG9

SPART

SPATC1L

SPEN

SPG11

SPG7

SPHK2

SPTAN1

SPTBN1

SPTBN2

SPTBN5

SRCAP

SRRM2

SSC5D

SSPO

STAB1

STIP1

STRBP

STRN3

STUB1

SUMF2

SUPT16H

SURF1

SYNC

SYNCRIP

SYNE1

SYNE2

SYNGAP1

SYNJ2

SYT3

SZT2

TAF1

TAF8

TBC1D24

TBC1D2B

TBC1D8

TBCEL

TBCK

TBX2

TBX6

TCERG1

TCTN3

TECPR2

TENM3

TEP1

TET1

THAP11

THOC2

THOP1

THSD1

TKFC

TMC3

TMEM127

TMEM161B

TMEM240

TMEM53

TMEM67

TMPO

TMTC3

TMX2

TNR

TONSL

TPH2

TPM2

TPOBP1

TPP1

TRAF2

TRAPPC2

TRIM33

TRIML2

TRIO

TRIP12

TRRAP

TSC1

TSC2

TSPAN6

TSPEAR

TTN

TUBA1B

TUBB3

TUBG2

TUBGCP2

TYK2

U2AF2

UBAP2L

UBE2K

UBE2R2

UBR4

UNC13A

UNC5B

USP34

USP7

USP8

USP9X

UTRN

VAMP2

VARS

VPS13A

VPS13D

VRK1

VWA1

VWF

WARS

WARS2

WASF1

WASHC4

WDFY3

WDR13

WDR36

WDR62

WDR91

WFS1

WHRN

WNK1

WNT3

WWC3

XPNPEP1

XPO1

YARS

YEATS2

YEATS4

YLPM1

ZBTB2

ZBTB20

ZBTB7A

ZC4H2

ZCCHC18

ZCCHC3

ZDHHC14

ZFC3H1

ZFHX3

ZFP37

ZFYVE27

ZMYM3

ZNF148

ZNF200

ZNF207

ZNF311

ZNF335

ZNF483

ZNF484

ZNF674

ZSWIM6