Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1528
Gene Symbol: CYB5A
CYB5A
0.320 GeneticVariation disease BEFREE A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism. 8168836 1994
Entrez Id: 1528
Gene Symbol: CYB5A
CYB5A
0.320 GeneticVariation disease BEFREE From these results we conclude that restriction of enzyme deficiency to red cells in hereditary methemoglobinemia type I may be generally derived from instability and increased proteolytic susceptibility of variant NADH-cytochrome b5 reductases due to a point mutation. 1400360 1992
Entrez Id: 1528
Gene Symbol: CYB5A
CYB5A
0.320 GeneticVariation disease ORPHANET