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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Rubinstein-Taybi syndrome due to CREBBP mutations
Machado-Joseph disease type 3

CREBBP ATXN3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.78)
ATXN3



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP
Machado-Joseph disease type 3
ATXN3



Rubinstein-Taybi syndrome due to CREBBP mutations
Machado-Joseph disease type 3

Synonym(s):
(no synonyms)

Synonym(s):
- SCA3, Machado type

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.