Disease Term Disease ID Gene Symbol Classification References Source
Retinoschisis C0152439 RS1 Causal Pathogenic evidence from ClinVar 16088326, 21738583 ClinVar
ACTB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ACTG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CDKL5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NR2E3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Retinoschisis, Degenerative C1137478 RS1 Causal Pathogenic evidence from ClinVar 16088326, 21738583 ClinVar