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Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hypokalemic periodic paralysis
2 OMIM references -
3 associated genes
No signs/symptoms info
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Hypokalemic periodic paralysis

KIF5A
(UniProt - OMIM)
 CACNA1S
(UniProt - OMIM)
KCNE3
(UniProt - OMIM)
SCN4A
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
KIF5A
(0.63)
KCNE3


Citations in the biomedical literature:


Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
KIF5A
Hypokalemic periodic paralysis
CACNA1S KCNE3 SCN4A



Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Hypokalemic periodic paralysis

Synonym(s):
- CMT due to KIF5A mutation
Synonym(s):
- Westphall disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D020514
No signs/symptoms info available.