Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2
CUI: C3463917
Disease: Corticosterone Methyl Oxidase Type II Deficiency
Corticosterone Methyl Oxidase Type II Deficiency 		0.610 GeneticVariation UNIPROT A compound heterozygote case of type II aldosterone synthase deficiency. 12788848

2003
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2
CUI: C3463917
Disease: Corticosterone Methyl Oxidase Type II Deficiency
Corticosterone Methyl Oxidase Type II Deficiency 		0.610 GeneticVariation UNIPROT Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene. 9814506

1998
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2
CUI: C3463917
Disease: Corticosterone Methyl Oxidase Type II Deficiency
Corticosterone Methyl Oxidase Type II Deficiency 		0.610 GeneticVariation UNIPROT Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II. 9625333

1998
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2
CUI: C3463917
Disease: Corticosterone Methyl Oxidase Type II Deficiency
Corticosterone Methyl Oxidase Type II Deficiency 		0.610 GeneticVariation UNIPROT Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. 1594605

1992
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2
CUI: C3463917
Disease: Corticosterone Methyl Oxidase Type II Deficiency
Corticosterone Methyl Oxidase Type II Deficiency 		0.610 GeneticVariation UNIPROT Molecular genetic analysis of the P-450C18 gene is three patients from three different families affected with CMO II deficiency has indicated that a point mutation of CGG----TGG (181Arg----Trp) in exon 3 and one of GTG----GCG (386Val----Ala) in exon 7 occur exclusively in the gene of the patients. 1346492

1992