phosphoribosyl pyrophosphate synthetase 1

Preferred Label : phosphoribosyl pyrophosphate synthetase 1;

Approved symbol HGNC : PRPS1;

Name synonyms HGNC : ribose-phosphate diphosphokinase 1; PRS I;

Alias symbols HGNC : CMTX5; DFNX1; PPRibP; PRS-I;

Chromosome HGNC : Xq22.3;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000147224;

Details

Origin ID

HGNC:9462;

UMLS CUI

C1418954;

Automatic exact mappings (from CISMeF team)
- Charcot-marie-tooth disease, X-linked recessive, 5 [OMIM Phenotype]
- Phosphoribosylpyrophosphate synthetase I [OMIM gene]
- phosphoribosyl pyrophosphate synthetase 1 [ORDO Gene]
OMIM gene
- Phosphoribosylpyrophosphate synthetase I [OMIM gene]
Orphanet gene
- phosphoribosyl pyrophosphate synthetase 1 [ORDO Gene]
See also inter- (CISMeF)
- Deafness, X-linked 1 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Phosphoribosylpyrophosphate synthetase I [OMIM gene]

Keyword's position in hierarchy(ies) :

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