COL17A1, collagen type XVII alpha 1 chain, 1308

N. diseases: 138; N. variants: 28
Disease: Epidermolysis Bullosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.100 GeneticVariation disease BEFREE Our study expands the phenotypic spectrum of COL17A1 disease from autosomal recessive epidermolysis bullosa to autosomal dominant ERED and identifies COL17A1 as a key protein in maintaining integrity of the corneal epithelium. 26786512 2016
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.100 GeneticVariation disease BEFREE Despite the high incidence of revertant mosaicism (35%) in patients with the genetic skin disease epidermolysis bullosa (EB) due to correcting mutations in the genes COL17A1 and LAMB3, revertant mosaicism has not been described for COL7A1 until recently. 20574443 2010
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.100 Biomarker disease BEFREE This model shows fidelity to alterations seen in patients with BP, has relevance to immune responses that may arise in patients with epidermolysis bullosa following BPAG2 gene replacement, and can be used to identify interventions that may block production of IgG against proteins in epidermal BM. 17657247 2007
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.100 Biomarker disease LHGDN This model shows fidelity to alterations seen in patients with BP, has relevance to immune responses that may arise in patients with epidermolysis bullosa following BPAG2 gene replacement, and can be used to identify interventions that may block production of IgG against proteins in epidermal BM. 17657247 2007
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.100 GeneticVariation disease BEFREE Revertant mosaicism due to in vivo reversion of an inherited mutation has been described in the genetic skin disease epidermolysis bullosa (EB) for the genes KRT14 and COL17A1. 17476356 2007
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.100 GeneticVariation disease LHGDN Protein structural analysis of BP180 mutant isoforms linked to non-Herlitz junctional epidermolysis bullosa. 16417243 2006
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.100 GeneticVariation disease BEFREE Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa. 16252234 2005
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.100 GeneticVariation disease LHGDN Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII. 16354180 2005
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.100 AlteredExpression disease LHGDN A very mild form of non-Herlitz junctional epidermolysis bullosa: BP180 rescue by outsplicing of mutated exon 30 coding for the COL15 domain. 15009107 2004
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.100 GeneticVariation disease LHGDN A novel homozygous point mutation in the COL17A1 gene in a Chinese family with generalized atrophic benign epidermolysis bullosa. 11912005 2002
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.100 GeneticVariation disease BEFREE These include mutations in the type VII collagen gene (COL7A1) in the dystrophic (severely scarring) forms of EB; mutations in the laminin 5 genes (LAMA3, LAMB3 and LAMC2) in a lethal (Herlitz) variant of junctional EB; aberrations in the type XVII collagen gene (COL17A1) in non-lethal forms of junctional EB; mutations in the alpha6 and beta4 integrin genes in a distinct hemidesmosomal variant of EB with congenital pyloric atresia; and mutations in the plectin gene (PLEC1) in a form of EB associated with late-onset muscular dystrophy. 10367729 1999
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.100 Biomarker disease BEFREE Indirect immunofluorescence was positive for monoclonal antibodies against type VII collagen, laminin 5, uncein, alpha6 and beta4 integrins, BPAG2, and HD1/plectin, which are known to be reduced or absent in specific subsets of severe EB. 9620484 1998
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.100 GeneticVariation disease BEFREE These findings indicate that the absent expression of LAD-1 is observed in a BPAG2-deficient generalized atrophic benign epidermolysis bullosa patient with mutations in both alleles of COL17A1, and not in other epidermolysis bullosa subtypes. 9804354 1998
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.100 GeneticVariation disease BEFREE Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa. 9254855 1997