Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1528
Gene Symbol: CYB5A
CYB5A 		0.600 GeneticVariation disease UNIPROT A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency. 22170710 2012
Entrez Id: 1528
Gene Symbol: CYB5A
CYB5A 		0.600 GeneticVariation disease CLINVAR A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency. 22170710 2012
Entrez Id: 1528
Gene Symbol: CYB5A
CYB5A 		0.600 Biomarker disease GENOMICS_ENGLAND Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X. 20080843 2010
Entrez Id: 1528
Gene Symbol: CYB5A
CYB5A 		0.600 GeneticVariation disease UNIPROT Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X. 20080843 2010
Entrez Id: 1528
Gene Symbol: CYB5A
CYB5A 		0.600 Biomarker disease GENOMICS_ENGLAND 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 		0.600 GeneticVariation disease UNIPROT 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 		0.600 CausalMutation disease CLINVAR