Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		1.000 GermlineCausalMutation ORPHANET

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C1275114
Disease: Epidermolysis Bullosa Pruriginosa
Epidermolysis Bullosa Pruriginosa 		0.800 GermlineCausalMutation ORPHANET

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432322
Disease: Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 		0.780 GermlineCausalMutation ORPHANET

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C0432321
Disease: Epidermolysis bullosa, pretibial
Epidermolysis bullosa, pretibial 		0.750 GermlineCausalMutation ORPHANET

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C1851573
Disease: Transient bullous dermolysis of the newborn
Transient bullous dermolysis of the newborn 		0.730 GermlineCausalMutation ORPHANET

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C2673611
Disease: Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant
Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant 		0.600 GermlineCausalMutation ORPHANET

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C2673612
Disease: Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive 		0.600 GermlineCausalMutation ORPHANET

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C1843477
Disease: Epidermolysis Bullosa Simplex Superficialis
Epidermolysis Bullosa Simplex Superficialis 		0.300 GermlineCausalMutation ORPHANET EB simplex superficialis resulting from a mutation in the type VII collagen gene. 11874498

2002
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C4511056
Disease: Centripetalis recessive dystrophic epidermolysis bullosa
Centripetalis recessive dystrophic epidermolysis bullosa 		0.300 GermlineCausalMutation ORPHANET

Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C4518087
Disease: Acral dystrophic epidermolysis bullosa
Acral dystrophic epidermolysis bullosa 		0.300 GermlineCausalMutation ORPHANET