Polyribonucleotide nucleotidyltransferase 1

Preferred Label : Polyribonucleotide nucleotidyltransferase 1;

Symbol : PNPT1;

CISMeF acronym : PNPT1;

Type : Gene;

Alternative titles and symbols : OLD35; PNPase;

Ensembl ID : ENSG00000138035;

Prefixed ID : *610316;

Details

Origin ID

610316;

UMLS CUI

C1427960;

Automatic exact mappings (from CISMeF team)
- PNPT1 Gene [NCIt concept]
- PNPT1 wt Allele [NCIt concept]
- Polyribonucleotide Nucleotidyltransferase 1, Mitochondrial [NCIt concept]
- polyribonucleotide nucleotidyltransferase 1 [ORDO Gene]
- polyribonucleotide nucleotidyltransferase 1 [HGNC gene]
HGNC gene
- polyribonucleotide nucleotidyltransferase 1 [HGNC gene]
NCIt concept(s)
- PNPT1 Gene [NCIt concept]
- PNPT1 wt Allele [NCIt concept]
- Polyribonucleotide Nucleotidyltransferase 1, Mitochondrial [NCIt concept]
ORDO concept(s)
- polyribonucleotide nucleotidyltransferase 1 [ORDO Gene]
Phenotypes related
- Combined oxidative phosphorylation deficiency 13 [OMIM Phenotype]
- Deafness, autosomal recessive 70, with or without adult-onset neurodegeneration [OMIM Phenotype]
- Spinocerebellar ataxia 25 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PNPT1 Gene [NCIt concept]
- polyribonucleotide nucleotidyltransferase 1 [HGNC gene]

Keyword's position in hierarchy(ies) :

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