Disease Term Disease ID Gene Symbol Classification References Source
RETINITIS PIGMENTOSA ATF6 Unknown CTD Disgenet
ATP5ME Unknown Disgenet
BBS7 Unknown Disgenet
CA4 Unknown Disgenet Orphanet
CACNA2D4 Unknown Disgenet
CAT Unknown Disgenet
CC2D2A Unknown Disgenet Orphanet
CEP250 Unknown Disgenet GWAS catalog
CEP78 Unknown Disgenet
CLCC1 Unknown Disgenet
CNNM4 Unknown Disgenet
COL2A1 Unknown Disgenet
COQ8B Unknown Disgenet Orphanet
CRB2 Unknown Disgenet GWAS catalog
CYGB Unknown Disgenet
DHX32 Unknown Disgenet GWAS catalog
DNAJC10 Unknown GWAS catalog
DSCAML1 Unknown Disgenet GWAS catalog
EML3 Unknown Disgenet
EP300 Unknown CTD Disgenet
FDFT1 Unknown Disgenet GWAS catalog
FSCN2 Unknown Disgenet GWAS catalog Orphanet
FTH1 Unknown Disgenet
GDPD1 Unknown Disgenet Orphanet
GIGYF2 Unknown Disgenet
GPHN Unknown Disgenet
GPR179 Unknown Disgenet
GUCA1A Unknown Disgenet
GUCA1ANB-GUCA1A Unknown Disgenet
GUCA1B Unknown CTD Disgenet Orphanet
HGSNAT Unknown Disgenet Orphanet
HKDC1 Unknown Disgenet GWAS catalog
IDH3A Unknown Disgenet Orphanet
IDH3B Unknown CTD Disgenet GWAS catalog Orphanet
IDH3G Unknown Disgenet GenCC
IFT43 Unknown Disgenet Orphanet
IFT81 Unknown Disgenet
IFT88 Unknown Disgenet HPO Orphanet
ITGA4 Unknown Disgenet GWAS catalog
KRTCAP3 Unknown Disgenet
MFRP Unknown Disgenet
NEK2 Unknown Disgenet GWAS catalog Orphanet
NEUROD1 Unknown CTD Disgenet
NYX Unknown Disgenet
OFD1 Unknown Disgenet GWAS catalog Orphanet
OPA1 Unknown Disgenet
OR4F5 Unknown Disgenet
PCDH15 Unknown Disgenet
PHF3 Unknown Disgenet
PITPNM3 Unknown Disgenet