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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
3 associated genes
No signs/symptoms info
Moderate multiminicore disease with hand involvement
Hypokalemic periodic paralysis

RYR1 CACNA1S
KCNE3
SCN4A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RYR1
(0.62)
CACNA1S



Citations in the biomedical literature:


Moderate multiminicore disease with hand involvement
RYR1
Hypokalemic periodic paralysis
CACNA1S KCNE3 SCN4A



Moderate multiminicore disease with hand involvement
Hypokalemic periodic paralysis

Synonym(s):
(no synonyms)

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:
(no data available)
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:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D020514

No signs/symptoms info available.