Phosphoribosylpyrophosphate synthetase I

Preferred Label : Phosphoribosylpyrophosphate synthetase I;

Symbol : PRPS1;

CISMeF acronym : PRPS1;

Type : Gene;

Ensembl ID : ENSG00000147224;

Prefixed ID : *311850;

Details

Origin ID

311850;

UMLS CUI

C1418954;

Automatic exact mappings (from CISMeF team)
- phosphoribosyl pyrophosphate synthetase 1 [HGNC gene]
- phosphoribosyl pyrophosphate synthetase 1 [ORDO Gene]
HGNC gene
- phosphoribosyl pyrophosphate synthetase 1 [HGNC gene]
ORDO concept(s)
- phosphoribosyl pyrophosphate synthetase 1 [ORDO Gene]
Phenotypes related
- Arts syndrome [OMIM Phenotype]
- Charcot-marie-tooth disease, X-linked recessive, 5 [OMIM Phenotype]
- Deafness, X-linked 1 [OMIM Phenotype]
- Phosphoribosylpyrophosphate synthetase superactivity [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- phosphoribosyl pyrophosphate synthetase 1 [HGNC gene]

Keyword's position in hierarchy(ies) :

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