Swi/snf-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, dead/h box-containing, 1

Preferred Label : Swi/snf-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, dead/h box-containing, 1;

Symbol : SMARCAD1;

CISMeF acronym : SMARCAD1;

Type : Gene;

Alternative titles and symbols : Enhancer trap locus 1, mouse, homolog of; Human helicase 1; KIAA1122; ETL1; HEL1;

Ensembl ID : ENSG00000163104;

Prefixed ID : *612761;

Details

Origin ID

612761;

UMLS CUI

C1425496;

Automatic exact mappings (from CISMeF team)
- Autosomal Dominant Lateral Temporal Lobe Epilepsy [NCIt concept]
- LGI1 wt Allele [NCIt concept]
- SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 [ORDO Gene]
- SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 [HGNC gene]
- familial temporal lobe epilepsy 1 [DO Concept]
- leucine rich glioma inactivated 1 [ORDO Gene]
HGNC gene
- SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 [HGNC gene]
ORDO concept(s)
- SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 [ORDO Gene]
Phenotypes related
- Adermatoglyphia [OMIM Phenotype]
- Basan syndrome [OMIM Phenotype]
- Huriez syndrome [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 [HGNC gene]

Keyword's position in hierarchy(ies) :

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