Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
0.320 GeneticVariation group BEFREE Novel compound heterozygous PLEC mutations lead to early‑onset limb‑girdle muscular dystrophy 2Q. 28447722 2017
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
0.320 Biomarker group BEFREE The only report of plectin-related disease without skin involvement is limb-girdle muscular dystrophy type 2Q (LGMD2Q) phenotype, showing early-onset limb-girdle muscular dystrophy symptoms with progressive manner and no cranial muscle involvement. 25556389 2015
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
0.320 Biomarker group GENOMICS_ENGLAND