Disease Term Disease ID Gene Symbol Classification References Source
RETINITIS PIGMENTOSA 3 C1845667 RPGR Causal Pathogenic evidence from ClinVar 8673101, 8817343, 9399904, 9855162, 10482958, 10737996, 10932196, 10937588, 10970770, 11180598, 11754050, 11754051, 11992260, 12657579, 14564670, 17195164, 24981858 ClinVar
Retinitis Pigmentosa C0035334 RPGRIP1 Causal Pathogenic evidence from ClinVar 16272259 ClinVar
SAG Causal Pathogenic evidence from ClinVar 9565049 ClinVar
SCAPER Causal Pathogenic evidence from ClinVar 28794130 ClinVar
SEMA4A Causal Pathogenic evidence from ClinVar 16199541 ClinVar
SLC24A1 Causal Pathogenic evidence from ClinVar - ClinVar
SLC7A14 Causal Pathogenic evidence from ClinVar 24670872 ClinVar
SNRNP200 Causal Pathogenic evidence from ClinVar 19878916 ClinVar
SPATA7 Causal Pathogenic evidence from ClinVar 19268277 ClinVar
TOPORS Causal Pathogenic evidence from ClinVar 17924349, 18509552, 30718709 ClinVar
TTC8 Causal Pathogenic evidence from ClinVar - ClinVar
TTLL5 Causal Pathogenic evidence from ClinVar - ClinVar
TULP1 Causal Pathogenic evidence from ClinVar - ClinVar
USH1C Causal Pathogenic evidence from ClinVar 30718709 ClinVar
USH2A Causal Pathogenic evidence from ClinVar 9624053, 10729113, 10775529, 10909849, 11311042, 15015129, 15025721, 15325563, 18273898, 19881469, 20507924, 21151602, 21593743, 23940504, 24265693, 25133613, 30718709 ClinVar
VSX2 Causal Pathogenic evidence from ClinVar - ClinVar
ZNF408 Causal Pathogenic evidence from ClinVar 25882705 ClinVar
ABHD12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24697911 -
ACOX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AIRE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AMACR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARL13B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26964041 -
ATF6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26029869 -
ATP1A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ATP6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ATXN7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Retinitis pigmentosa 791 SAG Causal Pathogenic evidence from ClinVar - ClinVar
SCAPER Causal Pathogenic evidence from ClinVar - ClinVar
SEMA4A Causal Pathogenic evidence from ClinVar - ClinVar
SLC7A14 Causal Pathogenic evidence from ClinVar - ClinVar
SNRNP200 Causal Pathogenic evidence from ClinVar - ClinVar
SPATA7 Causal Pathogenic evidence from ClinVar - ClinVar
TOPORS Causal Pathogenic evidence from ClinVar - ClinVar
TTC8 Causal Pathogenic evidence from ClinVar - ClinVar
TULP1 Causal Pathogenic evidence from ClinVar - ClinVar
USH2A Causal Pathogenic evidence from ClinVar - ClinVar
ZNF408 Causal Pathogenic evidence from ClinVar - ClinVar
ARL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RETINITIS PIGMENTOSA 47 C3151061 SAG Causal Pathogenic evidence from ClinVar - ClinVar
RETINITIS PIGMENTOSA 35 C1853214 SEMA4A Causal Pathogenic evidence from ClinVar 16199541, 22956603 ClinVar
RETINITIS PIGMENTOSA 68 C3810380 SLC7A14 Causal Pathogenic evidence from ClinVar 24670872 ClinVar
RETINITIS PIGMENTOSA 33 (disorder) C1835895 SNRNP200 Causal Pathogenic evidence from ClinVar 16723661, 19710410, 19878916, 21618346, 23029027, 23045696, 23887765, 24319334 ClinVar
Retinitis Pigmentosa, Juvenile, SPATA7-Related C2751780 SPATA7 Causal Pathogenic evidence from ClinVar - ClinVar
Retinitis Pigmentosa 31 C1835923 TOPORS Causal Pathogenic evidence from ClinVar - ClinVar
RETINITIS PIGMENTOSA 51 C3150715 TTC8 Causal Pathogenic evidence from ClinVar 20451172 ClinVar
Retinitis Pigmentosa 14 C1838603 TULP1 Causal Pathogenic evidence from ClinVar 9462750, 9660588, 15557452, 17620573, 19837063 ClinVar
RETINITIS PIGMENTOSA 39 (disorder) C3151138 USH2A Causal Pathogenic evidence from ClinVar 9624053, 10729113, 10738000, 10775529, 10909849, 11311042, 12112664, 12427073, 12525556, 15015129, 15025721, 15241801, 15325563, 15671307, 15823922, 16098008, 16963483, 17085681, 17296898, 17405132, 18273898, 18452394, 18641288, 18665192, 18665195, 19683999, 19737284, 19788668, 19881469, 20052763, 20145675, 20440071, 20497194, 20507924, 20596040, 21151602, 21569298, 21593743, 21686329, 21738395, 22004887, 22009552, 22135276, 22334370, 22563300, 22581970, 23591405, 23737954, 23755871, 23767834, 23940504, 24160897, 24227914, 24265693, 24498627, 24516651, 24603341, 24607488, 24625443, 24853665, 24901346, 24938718, 24944099, 25097241, 25133613, 25211151, 25252889, 25324289, 25333064, 25342620, 25356976, 25366773, 25404053, 25412400, 25425308, 25472526, 25525159, 25558175, 25575603, 25649381, 25910913, 25991456, 26310143, 26338283, 26496393, 26633545, 26667666, 26856745, 26927203, 26969326, 27032803, 27157150, 27208204, 27318125, 27344577, 27353947, 27460420, 27583663, 27596865, 27624628, 27957503, 28000701, 28005 ClinVar
RETINITIS PIGMENTOSA 72 C4225315 ZNF408 Causal Pathogenic evidence from ClinVar 25882705 ClinVar
RETINITIS PIGMENTOSA 83 C4748536 ARL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26964041 -