PLEC, plectin, 5339

N. diseases: 218; N. variants: 35
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.710 Biomarker disease GENOMICS_ENGLAND Novel compound heterozygous PLEC mutations lead to early‑onset limb‑girdle muscular dystrophy 2Q. 28447722 2017
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.710 GeneticVariation disease UNIPROT Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. 27234031 2017
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.710 GeneticVariation disease UNIPROT 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
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.710 Biomarker disease 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
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.710 GeneticVariation disease CLINVAR Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 23289980 2013
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.710 GeneticVariation disease CLINVAR Plectin gene defects lead to various forms of epidermolysis bullosa simplex. 19945614 2010
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.710 GeneticVariation disease UNIPROT Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. 21109228 2010
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.710 CausalMutation disease CLINVAR Plectin gene defects lead to various forms of epidermolysis bullosa simplex. 19945614 2010
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.710 CausalMutation disease CLINVAR Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. 15654962 2005
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.710 GeneticVariation disease CLINVAR Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy. 10652002 2000
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.710 GeneticVariation disease CLINVAR Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions. 8830774 1996
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.710 CausalMutation disease CLINVAR Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions. 8830774 1996
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.710 Biomarker disease CTD_human
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.710 Biomarker disease GENOMICS_ENGLAND