FAH Gene - CISMeF

Preferred Label : FAH Gene;

NCIt synonyms : FAH; Fumarylacetoacetate Hydrolase Gene;

NCIt definition : This gene is involved in the catabolism of tyrosine.;

Details

Origin ID

C177195;

UMLS CUI

C1414525;

Automatic exact mappings (from CISMeF team)
- FA complementation group A [ORDO Gene]
- FAH gene [LOINC component]
- Fumarylacetoacetate hydrolase [OMIM gene]
HGNC gene
- fumarylacetoacetate hydrolase [HGNC gene]
OMIM relation
- Fumarylacetoacetate hydrolase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- FAH gene [LOINC component]
- Fumarylacetoacetate hydrolase [OMIM gene]
- fumarylacetoacetate hydrolase [HGNC gene]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
gene_encodes_gene_product
- Fumarylacetoacetase [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Tyrosinemia Type I [NCIt concept]
gene_plays_role_in_process
- Catabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]
genetic_biomarker_related_to
- Tyrosinemia [NCIt concept]
- Tyrosinemia Type I [NCIt concept]

Keyword's position in hierarchy(ies) :

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