ATPase H transporting V1 subunit B1

Preferred Label : ATPase H transporting V1 subunit B1;

Approved symbol HGNC : ATP6V1B1;

Name synonyms HGNC : Renal tubular acidosis with deafness; V-ATPase subunit B1;

Alias symbols HGNC : Vma2; VATB; RTA1B;

Chromosome HGNC : 2p13.3;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000116039;

Details

Origin ID

HGNC:853;

UMLS CUI

C1412673;

Automatic exact mappings (from CISMeF team)
- ATPase H+ transporting V1 subunit B1 [ORDO Gene]
- Atpase, h+ transporting, lysosomal, 56/58-kd, v1 subunit b, isoform 1 [OMIM gene]
- Renal tubular acidosis - deafness [ICD-11 More detail]
- Renal tubular acidosis with progressive nerve deafness (disorder) [SNOMED CT concept]
OMIM gene
- Atpase, h+ transporting, lysosomal, 56/58-kd, v1 subunit b, isoform 1 [OMIM gene]
Orphanet gene
- ATPase H+ transporting V1 subunit B1 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Atpase, h+ transporting, lysosomal, 56/58-kd, v1 subunit b, isoform 1 [OMIM gene]

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