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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
8 OMIM references -
9 associated genes
No signs/symptoms info
Spinocerebellar ataxia type 29
Familial thoracic aortic aneurysm and aortic dissection

ITPR1 ACTA2
FBN1
MYH11
MYLK
PRKG1
SMAD3
TGFB2
TGFBR1
TGFBR2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ITPR1
(0.65)
PRKG1



Citations in the biomedical literature:


Spinocerebellar ataxia type 29
ITPR1
Familial thoracic aortic aneurysm and aortic dissection
ACTA2 FBN1 MYH11 MYLK PRKG1 SMAD3
TGFB2 TGFBR1 TGFBR2



Spinocerebellar ataxia type 29
Familial thoracic aortic aneurysm and aortic dissection

Synonym(s):
- Congenital nonprogressive spinocerebellar ataxia
- SCA29

Synonym(s):
- Familial TAAD

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the circulatory system -

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

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

No signs/symptoms info available.