Amyotrophic lateral sclerosis, susceptibility to, 24

Preferred Label : Amyotrophic lateral sclerosis, susceptibility to, 24;

Symbol : ALS24;

CISMeF acronym : ALS24;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the never in mitosis gene A-related kinase 1 gene (NEK1, 604588.0005);

Prefixed ID : #617892;

Details

Origin ID

617892;

UMLS CUI

C4693523;

Genes related to phenotype
- Nima-related kinase 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Hippocampal atrophy [HPO term]
- Hyperreflexia [HPO term]
- Respiratory insufficiency [HPO term]
- Tetraparesis [HPO term]
ORDO concept(s)
- Amyotrophic lateral sclerosis [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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