PLEC, plectin, 5339

N. diseases: 218; N. variants: 35
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111730406
rs111730406
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C3150989
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		T 0.700 GeneticVariation CLINVAR Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 23289980 2013