Fukutin - CISMeF

Preferred Label : Fukutin;

Symbol : FKTN;

CISMeF acronym : FKTN;

Type : Gene;

Alternative titles and symbols : Fcmd gene; FCMD;

Ensembl ID : ENSG00000106692;

Prefixed ID : *607440;

Details

Origin ID

607440;

UMLS CUI

C1414558;

Automatic exact mappings (from CISMeF team)
- Congenital muscular dystrophy, Fukuyama type [ORDO Disease]
- FKTN gene [LOINC component]
- fukutin [ORDO Gene]
- fukutin [HGNC gene]
HGNC gene
- fukutin [HGNC gene]
NCIt concept(s)
- FKTN Gene [NCIt concept]
- FKTN wt Allele [NCIt concept]
- Ribitol-5-Phosphate Transferase FKTN [NCIt concept]
ORDO concept(s)
- fukutin [ORDO Gene]
Phenotypes related
- Cardiomyopathy, dilated, 1x [OMIM Phenotype]
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 [OMIM Phenotype]
- Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type b, 4 [OMIM Phenotype]
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- FKTN Gene [NCIt concept]
- FKTN gene [LOINC component]
- fukutin [HGNC gene]

Keyword's position in hierarchy(ies) :

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