GCH1 Gene - CISMeF

Preferred Label : GCH1 Gene;

NCIt synonyms : GTP Cyclohydrolase 1 Gene; GCH1;

NCIt definition : This gene is involved in the first step of the conversion of guanosine triphosphate to tetrahydrobiopterin (BH4).;

Details

Origin ID

C201640;

UMLS CUI

C1415012;

HGNC gene
- GTP cyclohydrolase 1 [HGNC gene]
OMIM relation
- Gtp cyclohydrolase I [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- GCH1 gene [LOINC component]
- GTP cyclohydrolase 1 [HGNC gene]
- Gtp cyclohydrolase I [OMIM gene]
gene_encodes_gene_product
- GTP Cyclohydrolase 1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- Dopa-Responsive Dystonia [NCIt concept]
- GTP Cyclohydrolase I Deficiency [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Cellular Stress Response [NCIt concept]
- Folic Acid Metabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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