Disease Term Disease ID Gene Symbol Classification References Source
RETINITIS PIGMENTOSA 69 C4014312 KIZ Causal Pathogenic evidence from ClinVar 24680887 ClinVar
Retinitis pigmentosa 791 KLHL7 Causal Pathogenic evidence from ClinVar - ClinVar
LRAT Causal Pathogenic evidence from ClinVar - ClinVar
MAK Causal Pathogenic evidence from ClinVar - ClinVar
MERTK Causal Pathogenic evidence from ClinVar - ClinVar
NEK2 Causal Pathogenic evidence from ClinVar - ClinVar
NR2E3 Causal Pathogenic evidence from ClinVar - ClinVar
NRL Causal Pathogenic evidence from ClinVar - ClinVar
OFD1 Causal Pathogenic evidence from ClinVar - ClinVar
PCARE Causal Pathogenic evidence from ClinVar - ClinVar
PDE6A Causal Pathogenic evidence from ClinVar - ClinVar
PDE6B Causal Pathogenic evidence from ClinVar - ClinVar
PDE6G Causal Pathogenic evidence from ClinVar - ClinVar
POMGNT1 Causal Pathogenic evidence from ClinVar - ClinVar
PRCD Causal Pathogenic evidence from ClinVar - ClinVar
PROM1 Causal Pathogenic evidence from ClinVar - ClinVar
Retinitis Pigmentosa C0035334 KLHL7 Causal Pathogenic evidence from ClinVar - ClinVar
LARGE1 Causal Pathogenic evidence from ClinVar - ClinVar
LRAT Causal Pathogenic evidence from ClinVar 18055821 ClinVar
MAK Causal Pathogenic evidence from ClinVar 21148103 ClinVar
MERTK Causal Pathogenic evidence from ClinVar 11062461, 15111602, 24625443 ClinVar
MFSD8 Causal Pathogenic evidence from ClinVar - ClinVar
MYO7A Causal Pathogenic evidence from ClinVar 30718709 ClinVar
NEK2 Causal Pathogenic evidence from ClinVar 24043777 ClinVar
NR2E3 Causal Pathogenic evidence from ClinVar 30718709 ClinVar
NRL Causal Pathogenic evidence from ClinVar 10192380, 12796249 ClinVar
OFD1 Causal Pathogenic evidence from ClinVar 22619378 ClinVar
PANK2 Causal Pathogenic evidence from ClinVar 26497376 ClinVar
PCARE Causal Pathogenic evidence from ClinVar 21412943, 26497376 ClinVar
PDE6A Causal Pathogenic evidence from ClinVar 7493036, 10393062, 17110911, 21039428, 21151602, 23134348, 25775262, 30718709 ClinVar
PDE6B Causal Pathogenic evidence from ClinVar 7724547, 8394174, 20591486, 22334370, 25097241, 25823529, 26497376, 26667666, 30718709 ClinVar
PDE6G Causal Pathogenic evidence from ClinVar - ClinVar
PHYH Causal Pathogenic evidence from ClinVar 9326939, 14974078 ClinVar
POMGNT1 Causal Pathogenic evidence from ClinVar 26908613 ClinVar
PRCD Causal Pathogenic evidence from ClinVar - ClinVar
PROM1 Causal Pathogenic evidence from ClinVar 17605048 ClinVar
RETINITIS PIGMENTOSA 42 C2751986 KLHL7 Causal Pathogenic evidence from ClinVar 19520207, 20547956, 21828050, 22084217 ClinVar
RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED C2750065 LRAT Causal Pathogenic evidence from ClinVar - ClinVar
RETINITIS PIGMENTOSA 62 C3280042 MAK Causal Pathogenic evidence from ClinVar 21148103, 21825139, 21835304 ClinVar
RETINITIS PIGMENTOSA 38 (disorder) C3151228 MERTK Causal Pathogenic evidence from ClinVar 11062461 ClinVar
RETINITIS PIGMENTOSA 67 C3809954 NEK2 Causal Pathogenic evidence from ClinVar - ClinVar
RETINITIS PIGMENTOSA 37 (disorder) C1970163 NR2E3 Causal Pathogenic evidence from ClinVar 10655056, 11071390, 11773633, 12963616, 15459973, 15689355, 17438525, 17564971, 18294254, 19006237, 19273793, 19898638, 21364904, 23591405, 24069298, 25097241, 27032803 ClinVar
RETINITIS PIGMENTOSA 27 C1834329 NRL Causal Pathogenic evidence from ClinVar 10192380, 11385710, 11879142, 15591106, 15994872, 17335001, 21981118, 22334370 ClinVar
RETINITIS PIGMENTOSA 54 C3150691 PCARE Causal Pathogenic evidence from ClinVar 20398884, 20398886, 21412943 ClinVar
RETINITIS PIGMENTOSA 43 C3151139 PDE6A Causal Pathogenic evidence from ClinVar 7493036, 10393062 ClinVar
RETINITIS PIGMENTOSA 40 (disorder) C3151107 PDE6B Causal Pathogenic evidence from ClinVar 8394174, 8557257, 8595886, 8698075, 8956055, 9543643, 22334370, 26872967 ClinVar
RETINITIS PIGMENTOSA 57 C3150821 PDE6G Causal Pathogenic evidence from ClinVar 20655036 ClinVar
RETINITIS PIGMENTOSA 76 C4310704 POMGNT1 Causal Pathogenic evidence from ClinVar 11709191, 15236414, 15466003, 17030669, 17559086, 17906881, 18330676, 19299310, 21361872, 22323514, 22554691, 23326386, 25390965, 26908613, 27391550, 27421908, 27604308, 28688748 ClinVar
RETINITIS PIGMENTOSA 36 C1864621 PRCD Causal Pathogenic evidence from ClinVar 16938425, 24992209, 27613864 ClinVar
RETINITIS PIGMENTOSA 41 (disorder) C2677516 PROM1 Causal Pathogenic evidence from ClinVar - ClinVar