Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Spinocerebellar ataxia type 6
Lethal arteriopathy syndrome due to FBLN4 deficiency

CACNA1A EFEMP2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CACNA1A
(0.63)
EFEMP2



Citations in the biomedical literature:


Spinocerebellar ataxia type 6
CACNA1A
Lethal arteriopathy syndrome due to FBLN4 deficiency
EFEMP2



Spinocerebellar ataxia type 6
Lethal arteriopathy syndrome due to FBLN4 deficiency

Synonym(s):
- SCA6

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.