SMIM12, small integral membrane protein 12, 113444

N. diseases: 15; N. variants: 30
Disease: Erythrokeratodermia variabilis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315316
rs74315316
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C0265961
Disease:
Erythrokeratodermia variabilis 		0.010 GeneticVariation BEFREE These mutations include G12D, which replaces a conserved glycine residue in the amino-terminus of Cx31 and is associated with a severe EKV phenotype. 12702148 2003