COL7A1, collagen type VII alpha 1 chain, 1294

N. diseases: 160; N. variants: 87
Disease: Epidermolysis bullosa, pretibial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		0.750 GeneticVariation disease BEFREE Although no special characteristic features of the mutations were identified, a high diversity of COL7A1 mutations was shown even in DEB, pretibial. 29500833 2018
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		0.750 Biomarker disease GENOMICS_ENGLAND Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation. 23616197 2013
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		0.750 GeneticVariation disease BEFREE A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: report of a Chinese family with intra-familial phenotypical diversity. 23624125 2013
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		0.750 Biomarker disease GENOMICS_ENGLAND Esophageal stenosis in childhood: dystrophic epidermolysis bullosa without skin blistering due to collagen VII mutations. 11781296 2002
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		0.750 GeneticVariation disease BEFREE Mutations in the type VII collagen gene (COL7A1) underlie EBD and in a dominant PEB family a glycine substitution mutation has been identified. 10583163 1999
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		0.750 GeneticVariation disease BEFREE Genetic linkage between the collagen type VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features. 7738360 1995
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		0.750 GeneticVariation disease UNIPROT We initiated mutational analysis in COL7A1 in a large five-generation PEB family of Taiwanese descent. 8541842 1995
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		0.750 GeneticVariation disease BEFREE We initiated mutational analysis in COL7A1 in a large five-generation PEB family of Taiwanese descent. 8541842 1995
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		0.750 GeneticVariation disease CLINVAR
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		0.750 Biomarker disease HPO
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		0.750 CausalMutation disease CLINVAR
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		0.750 Biomarker disease CTD_human
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		0.750 GermlineCausalMutation disease ORPHANET