C1R, complement C1r, 715

N. diseases: 96; N. variants: 18
Disease: Ehlers-Danlos Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		0.010 GeneticVariation disease BEFREE A Chinese family with periodontal Ehlers-Danlos syndrome associated with missense mutation in the C1R gene. 30025171 2018