C1R, complement C1r, 715

N. diseases: 96; N. variants: 18
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551499
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 		0.600 Biomarker disease GENOMICS_ENGLAND The Ehlers-Danlos syndromes, rare types. 28306225 2017
CUI: C4551499
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 		0.600 GeneticVariation disease UNIPROT Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. 27745832 2016
CUI: C4551499
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 		0.600 CausalMutation disease CLINVAR