Hereditary spherocytosis

Disease Term Disease ID Gene Symbol Classification References Source
Hereditary spherocytosis 822, C0037889 ANK1 Causal Pathogenic evidence from ClinVar 23664421 ClinVar
EPB42 Causal Pathogenic evidence from ClinVar 23664421 ClinVar
SLC4A1 Causal Pathogenic evidence from ClinVar 1378323, 23664421 ClinVar
SPTA1 Causal Pathogenic evidence from ClinVar 23664421 ClinVar
SPTB Causal Pathogenic evidence from ClinVar 8102379, 19538529, 23664421 ClinVar
CAD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 38827 -
DHODH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 38827 -
UMPS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 38827 -