Spectrin repeat-containing nuclear envelope protein 1

Preferred Label : Spectrin repeat-containing nuclear envelope protein 1;

Symbol : SYNE1;

CISMeF acronym : SYNE1;

Type : Gene;

Alternative titles and symbols : Synaptic nuclear envelope protein 1; Nuclear envelope spectrin repeat protein 1; Nesprin 1; KIAA0796; KIAA1756; KIAA1262;

Included titles and symbols : Cpg2 isoform; Cpg2b isoform; CPG2; CPG2B;

Ensembl ID : ENSG00000131018;

Prefixed ID : *608441;

Details

Origin ID

608441;

UMLS CUI

C1424736;

Automatic exact mappings (from CISMeF team)
- Glucarpidase [NCIt concept]
- Nesprin-1 [NCIt concept]
- SYNE1 Gene [NCIt concept]
- SYNE1 wt Allele [NCIt concept]
- spectrin repeat containing nuclear envelope protein 1 [ORDO Gene]
- spectrin repeat containing nuclear envelope protein 1 [HGNC gene]
HGNC gene
- spectrin repeat containing nuclear envelope protein 1 [HGNC gene]
NCIt concept(s)
- Nesprin-1 [NCIt concept]
- SYNE1 Gene [NCIt concept]
- SYNE1 wt Allele [NCIt concept]
ORDO concept(s)
- spectrin repeat containing nuclear envelope protein 1 [ORDO Gene]
Phenotypes related
- Arthrogryposis multiplex congenita 3, myogenic type [OMIM Phenotype]
- Emery-dreifuss muscular dystrophy 4, autosomal dominant [OMIM Phenotype]
- Spinocerebellar ataxia, autosomal recessive 8 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- SYNE1 Gene [NCIt concept]
- spectrin repeat containing nuclear envelope protein 1 [HGNC gene]

Keyword's position in hierarchy(ies) :

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