OCA2 Gene - CISMeF

Preferred Label : OCA2 Gene;

NCIt synonyms : OCA2 Melanosomal Transmembrane Protein Gene;

NCIt related terms : OCA2;

CISMeF acronym : OCA2;

NCIt definition : This gene plays a role in transport and melanin synthesis.;

Details

Origin ID

C131349;

UMLS CUI

C1417925;

Automatic exact mappings (from CISMeF team)
- Albinism, oculocutaneous, type II [OMIM Phenotype]
- OCA2 gene [LOINC component]
- OCA2 melanosomal transmembrane protein [ORDO Gene]
- Oca2 melanosomal transmembrane protein [OMIM gene]
- Oculocutaneous albinism type 2 [ORDO Disease]
- Oculocutaneous albinism type 2 [ICD-11 More detail]
- Tyrosinase-positive oculocutaneous albinism (disorder) [SNOMED CT concept]
- oculocutaneous albinism type 2 [MeSH Supplementary Concept]
- oculocutaneous albinism type II [DO Concept]
HGNC gene
- OCA2 melanosomal transmembrane protein [HGNC gene]
OMIM relation
- Oca2 melanosomal transmembrane protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- OCA2 gene [LOINC component]
- OCA2 melanosomal transmembrane protein [HGNC gene]
- Oca2 melanosomal transmembrane protein [OMIM gene]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
gene_encodes_gene_product
- P Protein [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Melanogenesis [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]
genetic_biomarker_related_to
- Oculocutaneous Albinism [NCIt concept]

Keyword's position in hierarchy(ies) :

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