Stargardt disease

Disease Term Disease ID Gene Symbol Classification References Source
Stargardt disease 827 ABCA4 Causal Pathogenic evidence from ClinVar - ClinVar
ELOVL4 Causal Pathogenic evidence from ClinVar - ClinVar
PROM1 Causal Pathogenic evidence from ClinVar - ClinVar
PRPH2 Causal Pathogenic evidence from ClinVar - ClinVar
CNGB3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
STARGARDT DISEASE 1 (disorder) C1855465 ABCA4 Causal Pathogenic evidence from ClinVar 9054934, 9295268, 9466990, 9490294, 9503029, 9781034, 9973280, 10090887, 10206579, 10413692, 10509673, 10612508, 10634594, 10711710, 10746567, 10958761, 10958763, 11017087, 11123914, 11328725, 11379881, 11385708, 11527935, 11594993, 11687513, 11702214, 11846518, 11919200, 12037008, 12192456, 12962493, 14517951, 15108289, 15192030, 15494742, 15579991, 15614537, 16103129, 16123440, 17277736, 17296903, 17982420, 18652558, 18977788, 19074458, 19217903, 19265867, 20029649, 20108432, 20335603, 20633576, 20696155, 20981092, 21786275, 21911583, 22025579, 22229821, 22264887, 22312191, 22328824, 22449572, 22661472, 22661473, 22968130, 22995991, 23096905, 23105016, 23134348, 23143460, 23144455, 23419329, 23424971, 23443024, 23499370, 23591405, 23695285, 23755871, 23776498, 23918662, 23940504, 23953153, 23982839, 24082139, 24097981, 24154662, 24265693, 24342785, 24444108, 24453473, 24509150, 24585425, 24713488, 24743636, 25066811, 25082885, 25087612, 25097241, 25283059, 25312043, 25333069, 25346251, 25356976, 25412400, 2 ClinVar
BEST1 Causal Pathogenic evidence from ClinVar 30718709 ClinVar
CRB1 Causal Pathogenic evidence from ClinVar - ClinVar
ELOVL4 Causal Pathogenic evidence from ClinVar 20633576 ClinVar
KCNV2 Causal Pathogenic evidence from ClinVar 30718709 ClinVar
PROM1 Causal Pathogenic evidence from ClinVar 18654668, 30718709 ClinVar
PRPH2 Causal Pathogenic evidence from ClinVar - ClinVar
CNGB3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15712225 -
Stargardt disease 3 C1838644 ELOVL4 Causal Pathogenic evidence from ClinVar - ClinVar
Stargardt disease 4 C1863534 PROM1 Causal Pathogenic evidence from ClinVar 18654668 ClinVar