CFD, complement factor D, 1675

N. diseases: 33; N. variants: 4
Source: ALL
Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606720
rs267606720
Entrez Id: 1675
Gene Symbol: CFD
CFD
CUI: C0398764
Disease:
Complement Factor D Deficiency
0.700 GeneticVariation UNIPROT Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections. 16527897 2006
dbSNP: rs267606721
rs267606721
Entrez Id: 1675
Gene Symbol: CFD
CFD
CUI: C0398764
Disease:
Complement Factor D Deficiency
0.700 GeneticVariation UNIPROT Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections. 16527897 2006
dbSNP: rs104894667
rs104894667
Entrez Id: 1675
Gene Symbol: CFD
CFD
CUI: C0398764
Disease:
Complement Factor D Deficiency
0.700 CausalMutation CLINVAR A family with complement factor D deficiency. 11457876 2001
dbSNP: rs3826945
rs3826945
Entrez Id: 1675
Gene Symbol: CFD
CFD
CUI: C0242383
Disease:
Age related macular degeneration
0.010 GeneticVariation BEFREE Genetic association was found between CFD gene SNP rs3826945 and AMD (odds ratio 1.44; P = 0.028) in a small discovery case-control series (462 cases and 325 controls) and replicated in a combined cohorts meta-analysis of 4765 cases and 2693 controls, with an odds ratio of 1.11 (P = 0.032), with the association almost confined to females. 22003108 2012