Oca2 melanosomal transmembrane protein

Preferred Label : Oca2 melanosomal transmembrane protein;

Symbol : OCA2;

CISMeF acronym : OCA2;

Type : Gene;

Alternative titles and symbols : Oca2 gene; Pink-eyed dilution; P gene; PED;

Ensembl ID : ENSG00000104044;

Prefixed ID : *611409;

Details

Origin ID

611409;

UMLS CUI

C1417925;

Automatic exact mappings (from CISMeF team)
- Astrocytic Phosphoprotein PEA-15 [NCIt concept]
- OCA2 Gene [NCIt concept]
- OCA2 gene [LOINC component]
- OCA2 melanosomal transmembrane protein [ORDO Gene]
- OCA2 melanosomal transmembrane protein [HGNC gene]
- OCA2 wt Allele [NCIt concept]
- Oculocutaneous albinism type 2 [ORDO Disease]
- Oculocutaneous albinism type 2 [ICD-11 More detail]
- PEA15 wt Allele [NCIt concept]
- PED [EDAM format]
- Paroxysmal exertion-induced dyskinesia [ORDO Disease]
- 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]
NCIt concept(s)
- OCA2 Gene [NCIt concept]
- OCA2 wt Allele [NCIt concept]
- P Protein [NCIt concept]
ORDO concept(s)
- OCA2 melanosomal transmembrane protein [ORDO Gene]
Phenotypes related
- Albinism, oculocutaneous, type II [OMIM Phenotype]
- Skin/hair/eye pigmentation, variation in, 1 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- OCA2 Gene [NCIt concept]
- OCA2 gene [LOINC component]
- OCA2 melanosomal transmembrane protein [HGNC gene]

Keyword's position in hierarchy(ies) :

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