CFH wt Allele - CISMeF

Preferred Label : CFH wt Allele;

NCIt synonyms : Factor H Gene; Age-Related Maculopathy Susceptibility 1 Gene; Beta-1H Gene; Complement Factor H wt Allele; H Factor 2 (Complement) Gene; ARMS1; AHUS1; FHL1; Beta-1-H-Globulin Gene; ARMD4; HF1; Adrenomedullin Binding Protein Gene; FH; H Factor 1 (Complement) Gene; HF2; HUS; AMBP1; HF; MGC88246; CFHL3; RP1-177P10.1;

NCIt definition : Human CFH wild-type allele is located in the vicinity of 1q32 and is approximately 96 kb in length. This allele, which encodes complement factor H protein, plays a role in the regulation of complement-mediated immunity. Mutation of the gene is associated with basal laminar drusen, complement factor H deficiency, hemolytic uremic syndrome atypical type 1, and age-related macular degeneration type 4.;

GenBank Accession Number : Y00716;

Details

Origin ID

C97210;

UMLS CUI

C3273279;

Automatic exact mappings (from CISMeF team)
- Complement factor h [OMIM gene]
- Complement factor h-related 3 [OMIM gene]
- Familial hyperaldosteronism [ORDO Disease]
- Family history with explicit context (situation) [SNOMED CT concept]
- Four-and-a-half lim domains 1 [OMIM gene]
- Fumarate hydratase [OMIM gene]
- Heart failure [Bloc CIM-11]
- Hemolytic uremic syndrome [ORDO Disease]
- Hemolytic uremic syndrome (disorder) [SNOMED CT concept]
- Hemolytic uremic syndrome, atypical, susceptibility to, 1 [OMIM Phenotype]
- Hemolytic-Uremic syndrome [MeSH concept]
- Hemophagocytic lymphohistiocytosis, familial, 1 [OMIM Phenotype]
- Hydrops fetalis [ORDO Disease]
- Hypercholesterolemia, familial, 1 [OMIM Phenotype]
- Macular degeneration, age-related, 4 [OMIM Phenotype]
- complement factor H [ORDO Gene]
- complement factor H related 3 [ORDO Gene]
- familial hemophagocytic lymphohistiocytosis 1 [DO Concept]
- four and a half LIM domains 1 [ORDO Gene]
- fumarate hydratase [ORDO Gene]
OMIM relation
- Complement factor h [OMIM gene]
See also inter- (CISMeF)
- age related macular degeneration 4 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1q32 [NCIt concept]
gene_is_element_in_pathway
- Alternative Complement Pathway [NCIt concept]
- Complement and Coagulation Cascade [NCIt concept]
gene_plays_role_in_process
- Complement Activation [NCIt concept]

Keyword's position in hierarchy(ies) :

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