Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.420 Biomarker GENOMICS_ENGLAND Complement component C7 deficiency in two Spanish families. 15554930

2004
Entrez Id: 1675
Gene Symbol: CFD
CFD
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.400 Biomarker GENOMICS_ENGLAND A type III complement factor D deficiency: Structural insights for inhibition of the alternative pathway. 29522842

2018
Entrez Id: 727
Gene Symbol: C5
C5
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.400 Biomarker GENOMICS_ENGLAND A complement C5 gene mutation, c.754G>A:p.A252T, is common in the Western Cape, South Africa and found to be homozygous in seven percent of Black African meningococcal disease cases. 25534848

2015
Entrez Id: 10747
Gene Symbol: MASP2
MASP2
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.400 Biomarker GENOMICS_ENGLAND Mannan-binding lectin-associated serine protease-2 (MASP-2) deficiency in two patients with pulmonary tuberculosis and one healthy control. 24658431

2015
Entrez Id: 720
Gene Symbol: C4A
C4A
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.400 Biomarker GENOMICS_ENGLAND Complement-4 deficiency in a child with systemic lupus erythematosus presenting with standard treatment-resistant severe skin lesion. 22482068

2011
Entrez Id: 729
Gene Symbol: C6
C6
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.400 Biomarker GENOMICS_ENGLAND Restricted genetic defects underlie human complement C6 deficiency. 12653841

2003
Entrez Id: 717
Gene Symbol: C2
C2
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.330 Biomarker GENOMICS_ENGLAND Characterization of type I complement C2 deficiency MHC haplotypes. Strong conservation of the complotype/HLA-B-region and absence of disease association due to linked class II genes. 7901282

1993
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.320 Biomarker GENOMICS_ENGLAND Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein. 7883978

1995
Entrez Id: 3426
Gene Symbol: CFI
CFI
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.310 Biomarker GENOMICS_ENGLAND Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis. 24142231

2013
Entrez Id: 735
Gene Symbol: C9
C9
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.310 Biomarker GENOMICS_ENGLAND Terminal complement component deficiencies in Japan. 10072634

1998
Entrez Id: 712
Gene Symbol: C1QA
C1QA
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.300 Biomarker GENOMICS_ENGLAND C1q: A fresh look upon an old molecule. 28601358

2017
Entrez Id: 1604
Gene Symbol: CD55
CD55
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.300 Biomarker GENOMICS_ENGLAND CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis. 28657829

2017
Entrez Id: 715
Gene Symbol: C1R
C1R
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.300 Biomarker 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
Entrez Id: 81494
Gene Symbol: CFHR5
CFHR5
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.300 Biomarker GENOMICS_ENGLAND Circulating complement factor H-related proteins 1 and 5 correlate with disease activity in IgA nephropathy. 28673452

2017
Entrez Id: 8547
Gene Symbol: FCN3
FCN3
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.300 Biomarker GENOMICS_ENGLAND Primary Ficolin-3 deficiency--Is it associated with increased susceptibility to infections? 25662573

2015
Entrez Id: 966
Gene Symbol: CD59
CD59
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.300 Biomarker GENOMICS_ENGLAND Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency. 25716358

2015
Entrez Id: 3075
Gene Symbol: CFH
CFH
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.300 Biomarker GENOMICS_ENGLAND Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN. 24722444

2014
Entrez Id: 716
Gene Symbol: C1S
C1S
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.300 Biomarker GENOMICS_ENGLAND Recombinant human complement component C2 produced in a human cell line restores the classical complement pathway activity in-vitro: an alternative treatment for C2 deficiency diseases. 20727163

2010
Entrez Id: 732
Gene Symbol: C8B
C8B
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.300 Biomarker GENOMICS_ENGLAND A novel mutation in a patient with a deficiency of the eighth component of complement associated with recurrent meningococcal meningitis. 19434484

2009
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.300 Biomarker GENOMICS_ENGLAND Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. 16621965

2006
Entrez Id: 713
Gene Symbol: C1QB
C1QB
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.300 Biomarker GENOMICS_ENGLAND C1q regulatory region polymorphism down-regulating murine c1q protein levels with linkage to lupus nephritis. 12133956

2002
Entrez Id: 731
Gene Symbol: C8A
C8A
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.300 Biomarker GENOMICS_ENGLAND Genetic basis of human complement C8 alpha-gamma deficiency. 9759902

1998
Entrez Id: 714
Gene Symbol: C1QC
C1QC
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.300 Biomarker GENOMICS_ENGLAND Homozygous hereditary C1q deficiency and systemic lupus erythematosus. A new family and the molecular basis of C1q deficiency in three families. 8630118

1996
Entrez Id: 721
Gene Symbol: C4B
C4B
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.300 Biomarker GENOMICS_ENGLAND C4B deficiency is not associated with meningitis or bacteremia with encapsulated bacteria. 1569346

1992
Entrez Id: 5199
Gene Symbol: CFP
CFP
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.300 Biomarker GENOMICS_ENGLAND Partial properdin deficiency. 6903190

1980