Disease Term Disease ID Gene Symbol Classification References Source
Methemoglobinemia C0025637 CYB5A Causal Pathogenic evidence from ClinVar - ClinVar
CYB5R3 Causal Pathogenic evidence from ClinVar 15921385, 16469290 ClinVar
CYP1A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12030840 -
HBA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3026948 -
HBB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15929117 -
HBG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
METHEMOGLOBINEMIA TYPE IV C2673427 CYB5A Causal Pathogenic evidence from ClinVar - ClinVar
Methemoglobinemia, Type I C2749559 CYB5R3 Causal Pathogenic evidence from ClinVar - ClinVar
Methemoglobinemia, Type Ii C2749560 CYB5R3 Causal Pathogenic evidence from ClinVar - ClinVar
METHEMOGLOBINEMIA, BETA TYPE C4693797 HBB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -