Last updated April 2025
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6,063
Participant records
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3,448
Participants deep-phenotyped
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3,617
Unique HPO terms tagged in participants
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6,720
Exome sequencing datasets
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1,399
Whole genome sequencing datasets
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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