ABCD1 Gene - CISMeF

Preferred Label : ABCD1 Gene;

NCIt synonyms : ATP Binding Cassette Subfamily D Member 1 Gene; ABCD1;

CISMeF acronym : ABCD1;

NCIt definition : This gene plays a role in the import of fatty acids and acyl-coenzyme A (acylCoA)-conjugated fatty acids into the peroxisome.;

Details

Origin ID

C142193;

UMLS CUI

C1412084;

Automatic exact mappings (from CISMeF team)
- ABCD1 gene [LOINC component]
- ATP binding cassette subfamily D member 1 [ORDO Gene]
- Atp-binding cassette, subfamily D, member 1 [OMIM gene]
HGNC gene
- ATP binding cassette subfamily D member 1 [HGNC gene]
OMIM relation
- Atp-binding cassette, subfamily D, member 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- ABCD1 gene [LOINC component]
- ATP binding cassette subfamily D member 1 [HGNC gene]
- Atp-binding cassette, subfamily D, member 1 [OMIM gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- ATP-Binding Cassette Sub-Family D Member 1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- ABCD1 Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Adrenoleukodystrophy [NCIt concept]
gene_mapped_to_disease
- Adrenoleukodystrophy [NCIt concept]
- Cerebral Adrenoleukodystrophy [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Fatty Acid Metabolism [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Lipid Transport [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients