Fukutin-related protein

Preferred Label : Fukutin-related protein;

Symbol : FKRP;

CISMeF acronym : FKRP;

Type : Gene;

Ensembl ID : ENSG00000181027;

Prefixed ID : *606596;

Details

Origin ID

606596;

UMLS CUI

C1425226;

Automatic exact mappings (from CISMeF team)
- FKRP gene [LOINC component]
- Limb-girdle muscular dystrophy 2I, fukutin related protein gene mutation [ICD-11 More detail]
- fukutin related protein [HGNC gene]
- fukutin related protein [ORDO Gene]
HGNC gene
- fukutin related protein [HGNC gene]
NCIt concept(s)
- FKRP Gene [NCIt concept]
- FKRP wt Allele [NCIt concept]
- Ribitol 5-Phosphate Transferase FKRP [NCIt concept]
ORDO concept(s)
- fukutin related protein [ORDO Gene]
Phenotypes related
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 5 [OMIM Phenotype]
- Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type b, 5 [OMIM Phenotype]
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- FKRP gene [LOINC component]
- fukutin related protein [HGNC gene]

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