Lamin a/C - CISMeF

Preferred Label : Lamin a/C;

Symbol : LMNA;

CISMeF acronym : LMNA;

Type : Gene;

Included titles and symbols : Lamin a; Lamin C; Prelamin a; Progerin; LMNC;

Ensembl ID : ENSG00000160789;

Prefixed ID : *150330;

Détails

Origin ID

150330;

UMLS CUI

C1416877;

Automatic exact mappings (from CISMeF team)
- LMNA Gene [NCIt concept]
- LMNA gene [LOINC component]
- LMNA wt Allele [NCIt concept]
- Lamin [NCIt concept]
- Lamin [LOINC component]
- Lamin A [MeSH concept]
- Lamin A [FMA entity]
- Lamin C [FMA entity]
- Lamin-A/C [NCIt concept]
- Laminar (qualifier value) [SNOMED CT concept]
- Laminate Device [NCIt concept]
- Prelamin-A/C [NCIt concept]
- lamin A/C [ORDO Gene]
- lamin A/C [HGNC gene]
- lamin C [MeSH concept]
- lamin C [MeSH Supplementary Concept]
- lamin type a [MeSH Descriptor]
- lamins [MeSH concept]
- lamins [MeSH Descriptor]
- prelamin A [MeSH concept]
- prelamin A [MeSH Supplementary Concept]
HGNC gene
- lamin A/C [HGNC gene]
NCIt concept(s)
- LMNA Gene [NCIt concept]
- LMNA wt Allele [NCIt concept]
- Lamin-A/C [NCIt concept]
- Prelamin-A/C [NCIt concept]
ORDO concept(s)
- lamin A/C [ORDO Gene]
Phenotypes related
- Cardiomyopathy, dilated, 1a [OMIM Phenotype]
- Cardiomyopathy, dilated, with hypergonadotropic hypogonadism [OMIM Phenotype]
- Charcot-marie-tooth disease, axonal, type 2b1 [OMIM Phenotype]
- Emery-dreifuss muscular dystrophy 2, autosomal dominant [OMIM Phenotype]
- Emery-dreifuss muscular dystrophy 3, autosomal recessive [OMIM Phenotype]
- Heart-hand syndrome, slovenian type [OMIM Phenotype]
- Hutchinson-gilford progeria syndrome [OMIM Phenotype]
- Lipodystrophy, familial partial, type 2 [OMIM Phenotype]
- Mandibuloacral dysplasia with type a lipodystrophy [OMIM Phenotype]
- Muscular dystrophy, congenital, lmna-related [OMIM Phenotype]
- Restrictive dermopathy 2 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- LMNA Gene [NCIt concept]
- LMNA gene [LOINC component]
- lamin A/C [HGNC gene]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients