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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
No signs/symptoms info
Spinocerebellar ataxia with axonal neuropathy type 2
Congenital analbuminemia

PIK3R5 ALB
SETX


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SETX
(0.72)
ALB



Citations in the biomedical literature:


Spinocerebellar ataxia with axonal neuropathy type 2
PIK3R5 SETX
Congenital analbuminemia
ALB



Spinocerebellar ataxia with axonal neuropathy type 2
Congenital analbuminemia

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified -

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: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.