Disease Term Disease ID Gene Symbol Classification References Source
Retinitis punctata albescens 52427 RDH5 Causal Pathogenic evidence from ClinVar - ClinVar
RHO Causal Pathogenic evidence from ClinVar - ClinVar
RLBP1 Causal Pathogenic evidence from ClinVar - ClinVar
PRPH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Retinitis punctata albescens (disorder) C1405854 RDH5 Causal Pathogenic evidence from ClinVar 25526675 ClinVar
RHO Causal Pathogenic evidence from ClinVar 8554077 ClinVar
RLBP1 Causal Pathogenic evidence from ClinVar 10102299, 15234312, 15953459 ClinVar
PRPH2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8485575 -