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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Spinocerebellar ataxia with axonal neuropathy type 2
Transthyretin-related familial amyloid cardiomyopathy

PIK3R5 TTR
SETX


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PIK3R5
(0.63)
TTR



Citations in the biomedical literature:


Spinocerebellar ataxia with axonal neuropathy type 2
PIK3R5 SETX
Transthyretin-related familial amyloid cardiomyopathy
TTR



Spinocerebellar ataxia with axonal neuropathy type 2
Transthyretin-related familial amyloid cardiomyopathy

Synonym(s):
- AOA2
- Ataxia - oculomotor apraxia type 2
- SCAN 2
- SCAR1

Synonym(s):
- ATTR cardiomyopathy
- TTR-related amyloid cardiomyopathy
- TTR-related cardiac amyloidosis
- Transthyretin amyloid cardiopathy

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.