Gene: PLEC ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5339
Gene Symbol: PLEC
PLEC 		0.040 GeneticVariation disease BEFREE Mutations of the human plectin gene (PLEC) on chromosome 8q24 cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS-MD). 27121971 2016
Entrez Id: 5339
Gene Symbol: PLEC
PLEC 		0.040 GeneticVariation disease BEFREE In addition, a point mutation in the rod domain of plectin leads to autosomal dominant EBS, called as EBS-Ogna. 25530118 2015
Entrez Id: 5339
Gene Symbol: PLEC
PLEC 		0.040 GeneticVariation disease BEFREE Mutations of the human plectin gene (Plec1) cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS-MD). 12071635 2002
Entrez Id: 5339
Gene Symbol: PLEC
PLEC 		0.040 GeneticVariation disease BEFREE Mutations of the human plectin gene have recently been associated with the autosomal recessive disorder epidermolysis bullosa simplex with muscular dystrophy. 9352221 1997