Gene: C9

Alternate names for this Gene: ARMD15|C9D

Gene Summary: This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency.

Gene is located in Chromosome: 5

Location in Chromosome : 5p13.1

Description of this Gene: complement C9

Type of Gene: protein-coding

rs62358361 in C9 gene and Age related macular degeneration PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

rs265721 in C9 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs121909593 in C9 gene and C9 Deficiency PMID 9634479 1998 Heterogeneity in the genetic basis of human complement C9 deficiency.

PMID 28617419 2017 Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.

rs700236 in C9 gene and Creatinine measurement, serum (procedure) PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

rs62358361 in C9 gene and Exudative age-related macular degeneration PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

rs62358361 in C9 gene and Geographic Atrophy PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

rs700236 in C9 gene and Glomerular Filtration Rate PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

rs10064820 in C9 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs34882957 in C9 gene and MACULAR DEGENERATION, AGE-RELATED, 15 PMID 24036952 2013 Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

rs62358361 in C9 gene and exudative macular degeneration PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.