COL7A1, collagen type VII alpha 1 chain, 1294

N. diseases: 38; N. variants: 68
Disease: Dysmorphic features ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Dystrophic epidermolysis bullosa: a review. 26064063 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Overview of epidermolysis bullosa. 20507384 2010
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006. 19026465 2009
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Type VII collagen is a major structural component of anchoring fibrils. 3771648 1986