Protection of telomeres 1

Preferred Label : Protection of telomeres 1;

Symbol : POT1;

CISMeF acronym : POT1;

Type : Gene;

Ensembl ID : ENSG00000128513;

Prefixed ID : *606478;

Details

Origin ID

606478;

UMLS CUI

C1538704;

Automatic exact mappings (from CISMeF team)
- POT1 Gene [NCIt concept]
- protection of telomeres 1 [ORDO Gene]
- protection of telomeres 1 [HGNC gene]
HGNC gene
- protection of telomeres 1 [HGNC gene]
NCIt concept(s)
- POT1 Gene [NCIt concept]
- POT1 wt Allele [NCIt concept]
- Protection of Telomeres Protein 1 [NCIt concept]
ORDO concept(s)
- protection of telomeres 1 [ORDO Gene]
Phenotypes related
- Cerebroretinal microangiopathy with calcifications and cysts 3 [OMIM Phenotype]
- Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 [OMIM Phenotype]
- Tumor predisposition syndrome 3 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- POT1 Gene [NCIt concept]
- protection of telomeres 1 [HGNC gene]

Keyword's position in hierarchy(ies) :

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