Vitelliform macular dystrophy

Disease Term Disease ID Gene Symbol Classification References Source
Adult-Onset Vitelliform Macular Dystrophy C1842914 BEST1 Causal Pathogenic evidence from ClinVar 10854112 ClinVar
IMPG1 Causal Pathogenic evidence from ClinVar 23993198 ClinVar
IMPG2 Causal Pathogenic evidence from ClinVar 25085631 ClinVar
PRPH2 Causal Pathogenic evidence from ClinVar 9338584, 10854112, 15370544, 17653047, 20213611, 26796962 ClinVar
Best vitelliform macular dystrophy 1243 BEST1 Causal Pathogenic evidence from ClinVar - ClinVar
Juvenile-Onset Vitelliform Macular Dystrophy C2745945 BEST1 Causal Pathogenic evidence from ClinVar 16754206 ClinVar
IMPG1 Causal Pathogenic evidence from ClinVar - ClinVar
IMPG2 Causal Pathogenic evidence from ClinVar - ClinVar
PRPH2 Causal Pathogenic evidence from ClinVar - ClinVar
Vitelliform Macular Dystrophy C0339510 BEST1 Causal Pathogenic evidence from ClinVar 9662395, 9700209, 10331951, 10394929, 10453731, 10682987, 10798642, 11241846, 11449320, 11756879, 12187431, 12324875, 13129869, 14517959, 15176385, 15452077, 16754206, 18400985, 18703557, 18766995, 19357557, 21330666, 21467170, 24560797, 30718709 ClinVar
IMPG1 Causal Pathogenic evidence from ClinVar - ClinVar
IMPG2 Causal Pathogenic evidence from ClinVar - ClinVar
PRPH2 Causal Pathogenic evidence from ClinVar 30718709 ClinVar
FTH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21467170, 24560797 -