Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0268371
Disease: Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails 		0.600 Biomarker GENOMICS_ENGLAND Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation. 23616197

2013
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0268371
Disease: Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails 		0.600 Biomarker GENOMICS_ENGLAND Esophageal stenosis in childhood: dystrophic epidermolysis bullosa without skin blistering due to collagen VII mutations. 11781296

2002
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0268371
Disease: Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails 		0.600 CausalMutation CLINVAR

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0268371
Disease: Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails 		0.600 GeneticVariation CLINVAR

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0268371
Disease: Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails 		0.600 Biomarker CTD_human