Last updated April 2024
-
5,706
Participant records
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3,255
Participants deep-phenotyped
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3,564
Unique HPO terms tagged in participants
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6,522
Exome sequencing datasets
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1,340
Whole genome sequencing datasets
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237
RNA sequencing datasets
Candidate genes in Genomics4RD
ARS1
A2ML1
AARS2
ABCA13
ABCA4
ABCC6
ABHD16A
ABR
ACACB
ACAN
ACO2
ACTC1
ACTN4
ACTR1A
ACY1
ADA2
ADAM23
ADCY1
ADCY5
ADCY8
ADGRL2
ADGRV1
AFF2
AFG3L2
AGO1
AHDC1
AIMP1
ALDH18A1
ALDH5A1
ALG2
ALS2
AMBRA1
AMPD2
ANKFY1
ANKRD17
AP3B2
AP4E1
APAF1
APOB
ARF1
ARFGEF3
ARHGAP35
ARHGAP45
ARHGEF1
ARHGEF10
ARHGEF7
ARID2
ARID3B
ARID4A
ARID5B
ARMC9
ARMCX3
ARMCX5
ARMCX6
ASH1L
ASPM
ASXL3
ATAD3A
ATM
ATP13A1
ATP1A2
ATP1A3
ATP1B1
ATP6V0D2
ATP7B
ATP8A2
AUTS2
BAZ1A
BAZ2A
BCAR3
BCL6
BCL9
BCOR
BMP2
BMP6
BRAF
BSCL2
BSG
BTD
C12orf57
C2orf74
C4orf50
CACNA1A
CACNA1D
CACNA1H
CACNA1S
CACNA2D2
CAMK4
CAPZB
CASKIN2
CBL
CC2D1A
CC2D2A
CCAR2
CCDC22
CCDC78
CCDC88C
CCT5
CDC16
CDC42EP4
CDC6
CDK20
CDON
CEMIP
CENPJ
CEP120
CEP295
CHAMP1
CHD6
CHD7
CHRM5
CHST7
CHTOP
CIC
CKAP5
CLCN1
CLCN4
CLP1
CLTC
CNOT2
CNTNAP1
CNTNAP2
COG5
COL12A1
COL17A1
COL1A1
COL1A2
COL2A1
COL3A1
COL4A1
COL4A2
COL5A1
COL5A2
COL6A1
COL6A2
COL6A3
COPB2
CPA6
CRB2
CRB3
CRLS1
CSMD2
CSMD3
CSNK1A1
CSNK1G1
CSTF2
CTC1
CTNNB1
CTNND1
CTR9
DDX3X
DENND2C
DESI2
DGKQ
DHFR
DHRSX
DHX37
DIAPH1
DIP2B
DIP2C
DKC1
DMD
DMRT2
DNA2
DNAAF2
DNAH7
DNMT3A
DOCK3
DOCK4
DSC2
DTHD1
DYNC1H1
DYNC1I1
DYNC1LI1
DYRK1A
DYSF
EBF2
EBF3
ECPAS
EEF2
EGF
EHBP1L1
EIF2B1
EIF4B
EIF5
ELAVL2
ELFN2
ELOVL5
EP300
EPB41L1
EPHA5
EPRS
ERBB3
ESRRB
ETAA1
ETFB
ETFDH
EXOC1
EXOC6
EZH2
FAM49B
FANCA
FANCB
FANCI
FASLG
FBL
FBN1
FBXO45
FER1L6
FEZ2
FGFR1
FGFR3
FH
FIG4
FLG
FLNA
FLNC
FMNL2
FN1
FNBP4
FOXB2
FREM3
FRY
FRYL
FTCD
FXYD5
G6PD
GABBR1
GABBR2
GAL3ST1
GARS
GATA4
GBA
GCH1
GDF1
GDF15
GDF5
GGNBP2
GJB2
GLI2
GLI3
GLYR1
GNAI2
GNB2
GNE
GNPTAB
GOLGB1
GP1BA
GPAA1
GPC4
GPR150
GRIA4
GRIK2
GRIN2B
GSG1L
GTF3C1
GUCY1A2
GUF1
HAPLN1
HDAC4
HDAC7
HEATR5B
HERC1
HERC2
HIRIP3
HIST1H4H
HIST1H4I
HSPBP1
HTR1E
HUWE1
IDUA
IER5L
IGFBP5
IL6ST
INF2
INO80
INPPL1
INSIG1
INTS13
INTU
IPO13
IPPK
ITGAM
ITGAV
ITPR1
ITPRID2
ITSN1
JAKMIP1
JARID2
KCND3
KCNG1
KCNJ12
KCNN2
KCNQ1
KCNQ5
KDM1A
KDM2A
KDM4B
KDM5B
KDM7A
KEAP1
KIAA0391
KIAA1841
KIF1A
KIF1C
KIF21B
KIF27
KIF7
KLB
KMT2B
KMT2C
KMT2D
KMT2E
KMT5B
KRIT1
L1CAM
LAMA1
LAMA2
LAMA5
LAMC1
LARP1
LGI2
LHX2
LMNA
LMOD1
LMTK2
LMTK3
LMX1B
LONP1
LRP4
LRRK2
LSS
LYST
MAGED1
MAGEL2
MAML3
MAP1A
MAP2
MAP3K12
MAP4K4
MAP7D2
MAPK8IP3
MARCH6
MBD6
MBOAT7
MBTD1
MCCC1
MCF2
MCM6
MCTP2
MDN1
MECP2
MED14
MED20
MED25
MFN2
MFSD14B
MGAT1
MGP
MIB1
MICAL3
MIPEP
MLLT1
MLYCD
MMACHC
MMEL1
MNT
MOBP
MORN5
MOSMO
MPP7
MSH2
MSL2
MTA1
MTFMT
MTG2
MT-RNR1
MYBPC3
MYH11
MYH14
MYO18A
MYO6
MYOF
N4BP2
NADK
NAGA
NAXE
NBEA
NCOR1
NDUFAF8
NDUFB5
NEB
NEDD4
NEK1
NELL2
NEU1
NEXMIF
NFASC
NHLRC2
NIPBL
NLGN3
NLGN4X
NOTCH1
NOTCH3
NOVA2
NPAS1
NPC1
NPRL3
NR2F1
NRG1
NRP2
NRXN1
NRXN3
NSMF
NTN1
OBSL1
OGDHL
OSBP2
OTOF
P2RX4
P4HA2
PACSIN3
PAPOLA
PAPOLG
PARS2
PCDH10
PCDH19
PCDHAC2
PCDHGC4
PCF11
PDE11A
PDE9A
PDHA1
PFAS
PFKL
PHACTR1
PHC3
PHLPP1
PHOSPHO1
PIEZO1
PIGG
PIK3C2A
PIK3CA
PITPNM2
PITX1
PKD1
PKHD1
PLA2G4E
PLA2G6
PLEK2
PLEKHA7
PLXNB2
PMM2
PNPLA6
POGZ
POLG
POLR1A
POLR3A
POLR3B
POMGNT1
POMT2
PPFIA3
PPP1R8
PPP2R3B
PPP4C
PPP6R1
PQBP1
PREP
PRKCG
PRKRA
PROS1
PRPF6
PRPS1
PRRC2A
PSMC5
PTCH1
PTDSS2
PTOV1
PTPRM
PTPRS
PUM2
PURA
PUS10
RAPGEF2
RARA
RASA2
RBBP4
RBBP8
RBM10
RBM39
RBM8A
RCC1
REL
RELN
RHOA
RHOBTB1
RICTOR
RIMS1
RIMS2
RNASEH2B
RNF20
ROBO2
RORA
RPGRIP1L
RRAGC
RSAD1
RSL1D1
RTF1
RYR1
SACS
SAMHD1
SBNO1
SCAI
SCN1A
SCN3A
SCN7A
SEPT2
SERPING1
SETBP1
SETD1B
SETD2
SF1
SFXN1
SGSH
SH3KBP1
SHANK1
SHANK2
SHANK3
SHROOM4
SI
SIK2
SIL1
SIPA1L3
SLAIN2
SLC12A6
SLC15A2
SLC25A20
SLC25A46
SLC26A2
SLC33A1
SLC35E3
SLC39A8
SLC45A2
SLC4A4
SLC5A2
SLC8A2
SLC9A7
SMAD5
SMARCA2
SMARCC2
SMCHD1
SMG1
SMN1
SNAPC3
SNRNP70
SNX18
SOCS4
SORBS3
SOS1
SOX12
SOX8
SPAG9
SPART
SPATC1L
SPG11
SPG7
SPHK2
SPTAN1
SPTBN1
SPTBN2
SRCAP
SRRM2
SSC5D
SSPO
STAB1
STRBP
STRN3
STUB1
SUPT16H
SYNC
SYNCRIP
SYNE1
SYNE2
SYNGAP1
SYNJ2
SYT3
SZT2
TAF1
TAF8
TBC1D24
TBC1D8
TBCEL
TBCK
TBX6
TCERG1
TECPR2
TENM3
TEP1
TET1
THAP11
THOP1
THSD1
TMC3
TMEM240
TMEM53
TMEM67
TMX2
TNR
TONSL
TPH2
TPP1
TRAF2
TRAPPC2
TRIM33
TRIML2
TRIO
TRIP12
TRRAP
TSC1
TSC2
TSPAN6
TSPEAR
TTN
TUBA1B
TUBB3
TUBG2
TUBGCP2
U2AF2
UBAP2L
UBE2K
UBE2R2
UBR4
UNC13A
UNC5B
USP34
USP7
USP8
USP9X
UTRN
VAMP2
VARS
VPS13D
VRK1
VWA1
VWF
WARS
WARS2
WASF1
WASHC4
WDFY3
WDR13
WDR36
WDR62
WDR91
WFS1
WHRN
WNK1
WNK2
WNT3
WWC3
XPO1
YARS
YEATS2
YEATS4
YLPM1
ZBTB2
ZBTB20
ZBTB7A
ZC4H2
ZCCHC18
ZCCHC3
ZFC3H1
ZFHX3
ZFP37
ZFYVE27
ZMYM3
ZNF148
ZNF200
ZNF207
ZNF311
ZNF335
ZNF483
ZNF674
ZSWIM6