ACE, angiotensin I converting enzyme, 1636

N. diseases: 1082; N. variants: 82
Disease: Allanson Pantzar McLeod syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045079
rs797045079
Entrez Id: 1636
Gene Symbol: ACE
ACE
CUI: C0266313
Disease:
Allanson Pantzar McLeod syndrome 		C 0.700 CausalMutation CLINVAR Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. 22095942 2012