rs1478395810, COL17A1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adult junctional epidermolysis bullosa (disorder)
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
0.700 GeneticVariation CLINVAR Glycine substitution mutations cause intracellular accumulation of collagen XVII and affect its post-translational modifications. 19340010 2009
Adult junctional epidermolysis bullosa (disorder)
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
0.700 GeneticVariation CLINVAR Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII. 16354180 2005
Adult junctional epidermolysis bullosa (disorder)
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
0.700 GeneticVariation CLINVAR A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa. 9204958 1997
Adult junctional epidermolysis bullosa (disorder)
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
0.700 CausalMutation CLINVAR