rs267606694, CA12

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Isolated hyperchlorhidrosis
CUI: C1840437
Disease: Isolated hyperchlorhidrosis
0.800 GeneticVariation UNIPROT
Isolated hyperchlorhidrosis
CUI: C1840437
Disease: Isolated hyperchlorhidrosis
0.800 CausalMutation CLINVAR
Sialorrhea
CUI: C0037036
Disease: Sialorrhea
0.010 GeneticVariation BEFREE Here, we report that expression of CA12 and of CA12(E143K) in mice salivary glands respectively increased and prominently inhibited ductal fluid secretion and salivation in vivo. 26486891 2015
Dehydration
CUI: C0011175
Disease: Dehydration
0.010 GeneticVariation BEFREE CA12 stands out since the CA12(E143K) mutation causes salt wasting in sweat and dehydration in humans. 26486891 2015