C1R, complement C1r, 715

N. diseases: 96; N. variants: 18
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
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
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.410 Biomarker disease GENOMICS_ENGLAND Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease. 28544690 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.410 Biomarker disease BEFREE Clinical presentations and molecular basis of complement C1r deficiency in a male African-American patient with systemic lupus erythematosus. 21784777 2011
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.410 Biomarker disease HPO
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.300 Biomarker group GENOMICS_ENGLAND Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease. 28544690 2017
CUI: C0030524
Disease: Paratuberculosis
Paratuberculosis 		0.300 Biomarker disease CTD_human Proteomic analysis of plasma from Holstein cows testing positive for Mycobacterium avium subsp. paratuberculosis (MAP). 22633222 2012
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.300 Biomarker disease CTD_human Unique transcriptome, pathways, and networks in the human endometrial fibroblast response to progesterone in endometriosis. 20864642 2011
CUI: C0269102
Disease: Endometrioma
Endometrioma 		0.300 Biomarker disease CTD_human Unique transcriptome, pathways, and networks in the human endometrial fibroblast response to progesterone in endometriosis. 20864642 2011
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.100 Biomarker phenotype HPO
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.100 Biomarker phenotype HPO
CUI: C0003864
Disease: Arthritis
Arthritis 		0.100 Biomarker disease HPO
CUI: C0003962
Disease: Ascites
Ascites 		0.100 Biomarker phenotype HPO
CUI: C0004368
Disease: Autoimmune state
Autoimmune state 		0.100 Biomarker phenotype HPO
CUI: C0008031
Disease: Chest Pain
Chest Pain 		0.100 Biomarker phenotype HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013404
Disease: Dyspnea
Dyspnea 		0.100 Biomarker phenotype HPO
CUI: C0015967
Disease: Fever
Fever 		0.100 Biomarker phenotype HPO