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: C2673612
Disease: Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive 		0.600 Biomarker MGD Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation. 19893033

2009
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C2673612
Disease: Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive 		0.600 Biomarker MGD A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy. 18382769

2008
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
CUI: C2673612
Disease: Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive 		0.600 Biomarker MGD Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa. 10523500

1999
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: C2673612
Disease: Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive 		0.600 CausalMutation CLINVAR

Entrez Id: 4312
Gene Symbol: MMP1
MMP1
CUI: C2673612
Disease: Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive 		0.300 GermlineModifyingMutation ORPHANET

Entrez Id: 23426
Gene Symbol: GRIP1
GRIP1
CUI: C2673612
Disease: Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive 		0.200 Biomarker MGD Epidermolysis bullosa and embryonic lethality in mice lacking the multi-PDZ domain protein GRIP1. 11983858

2002