C1R, complement C1r, 715

N. diseases: 96; N. variants: 18
Disease: Ehlers-Danlos Syndrome, Type VIII ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268347
Disease: Ehlers-Danlos Syndrome, Type VIII
Ehlers-Danlos Syndrome, Type VIII 		0.500 GermlineCausalMutation disease ORPHANET Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. 27745832 2016
CUI: C0268347
Disease: Ehlers-Danlos Syndrome, Type VIII
Ehlers-Danlos Syndrome, Type VIII 		0.500 Biomarker disease CTD_human