Protein o-mannosyltransferase 1

Preferred Label : Protein o-mannosyltransferase 1;

Symbol : POMT1;

CISMeF acronym : POMT1;

Type : Gene;

Alternative titles and symbols : Rotated abdomen, drosophila, homolog of; RT;

Ensembl ID : ENSG00000130714;

Prefixed ID : *607423;

Détails

Origin ID

607423;

UMLS CUI

C1418752;

Automatic exact mappings (from CISMeF team)
- AML Radiation Therapy Table [NCIt concept]
- Atypical Teratoid/Rhabdoid Tumor [NCIt concept]
- EWS Radiation Therapy Table [NCIt concept]
- GDC Relationship Type Terminology [NCIt concept]
- Limb-girdle muscular dystrophy 2K, protein-O-mannosyltransferase 1 transferase [ICD-11 More detail]
- POMT1 gene [LOINC component]
- RNA-directed DNA polymerase activity [GO term]
- Radiation Therapy [NCIt concept]
- Refractory Thrombocytopenia [NCIt concept]
- Right Thigh [NCIt concept]
- atypical teratoid rhabdoid tumor [DO Concept]
- protein O-mannosyltransferase 1 [ORDO Gene]
- protein O-mannosyltransferase 1 [HGNC gene]
HGNC gene
- protein O-mannosyltransferase 1 [HGNC gene]
NCIt concept(s)
- POMT1 Gene [NCIt concept]
- POMT1 wt Allele [NCIt concept]
- Protein O-Mannosyl-Transferase 1 [NCIt concept]
ORDO concept(s)
- protein O-mannosyltransferase 1 [ORDO Gene]
Phenotypes related
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 [OMIM Phenotype]
- Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 1 [OMIM Phenotype]
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- POMT1 Gene [NCIt concept]
- POMT1 gene [LOINC component]
- protein O-mannosyltransferase 1 [HGNC gene]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients