Vacuolar protein sorting 13 homolog a - CISMeF

" /> Vacuolar protein sorting 13 homolog a - CISMeF

CISMeF

chu

Vacuolar protein sorting 13 homolog aOMIM gene

Preferred Label : Vacuolar protein sorting 13 homolog a;

Symbol : VPS13A;

CISMeF acronym : VPS13A;

Type : Gene;

Alternative titles and symbols : Vacuolar protein sorting 13, yeast, homolog of, a; Chac gene; CHAC; CHOREIN; KIAA0986;

Ensembl ID : ENSG00000197969;

Prefixed ID : *605978;

Details

Origin ID

605978;

UMLS CUI

C1413372;

Automatic exact mappings (from CISMeF team)
- Choreoacanthocytosis [ORDO Disease]
- Curly hair-acral keratoderma-caries syndrome [ORDO Disease]
- vacuolar protein sorting 13 homolog A [ORDO Gene]
- vacuolar protein sorting 13 homolog A [HGNC gene]
HGNC gene
- vacuolar protein sorting 13 homolog A [HGNC gene]
ORDO concept(s)
- vacuolar protein sorting 13 homolog A [ORDO Gene]
Phenotypes related
- Choreoacanthocytosis [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- vacuolar protein sorting 13 homolog A [HGNC gene]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients

Nous contacter.
28/05/2025

© Rouen University Hospital. Any partial or total use of this material must mention the source.

" /> Vacuolar protein sorting 13 homolog a - CISMeF

CISMeF

chu

Vacuolar protein sorting 13 homolog aOMIM gene

Preferred Label : Vacuolar protein sorting 13 homolog a;

Symbol : VPS13A;

CISMeF acronym : VPS13A;

Type : Gene;

Alternative titles and symbols : Vacuolar protein sorting 13, yeast, homolog of, a; Chac gene; CHAC; CHOREIN; KIAA0986;

Ensembl ID : ENSG00000197969;

Prefixed ID : *605978;

Details

Origin ID

605978;

UMLS CUI

C1413372;

Automatic exact mappings (from CISMeF team)
- Choreoacanthocytosis [ORDO Disease]
- Curly hair-acral keratoderma-caries syndrome [ORDO Disease]
- vacuolar protein sorting 13 homolog A [ORDO Gene]
- vacuolar protein sorting 13 homolog A [HGNC gene]
HGNC gene
- vacuolar protein sorting 13 homolog A [HGNC gene]
ORDO concept(s)
- vacuolar protein sorting 13 homolog A [ORDO Gene]
Phenotypes related
- Choreoacanthocytosis [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- vacuolar protein sorting 13 homolog A [HGNC gene]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients

Nous contacter.
28/05/2025

© Rouen University Hospital. Any partial or total use of this material must mention the source.