CFHR1 wt Allele

Preferred Label : CFHR1 wt Allele;

NCIt synonyms : CFHR1P; H36-1; H36-2; Factor H-Related Gene 1; Complement Factor H-Related 1 Pseudogene; H Factor (Complement)-Like 2 Gene; H Factor (Complement)-Like 1 Gene; Complement Factor H-Related 1 wt Allele; FHR1; HFL1; HFL2; CFHL1P; CFHL; CFHL1;

NCIt definition : Human CFHR1 wild-type allele is located in the vicinity of 1q32 and is approximately 12 kb in length. This allele, which encodes complement factor H-related protein 1, is involved in the modulation of complement activity. Mutation of the gene is associated with atypical hemolytic-uremic syndrome and age-related macular degeneration.;

GenBank Accession Number : M65292;

Details

Origin ID

C124882;

UMLS CUI

C4084892;

Automatic exact mappings (from CISMeF team)
- Complement factor h [OMIM gene]
- Complement factor h-related 1 [OMIM gene]
- complement factor H related 1 [ORDO Gene]
OMIM relation
- Complement factor h-related 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1q32 [NCIt concept]
gene_is_element_in_pathway
- 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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