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Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
Translocation renal cell carcinoma
1 OMIM reference -
7 associated genes
No signs/symptoms info
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Translocation renal cell carcinoma

WWOX
(UniProt - OMIM)
 ASPSCR1
(UniProt - OMIM)
CLTC
(UniProt - OMIM)
NONO
(UniProt - OMIM)
PRCC
(UniProt - OMIM)
SFPQ
(UniProt - OMIM)
TFE3
(UniProt - OMIM)
TFEB
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
WWOX
WWOX
(0.78)
(0.63)
SFPQ
NONO


Citations in the biomedical literature:


Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
WWOX
Translocation renal cell carcinoma
ASPSCR1 CLTC NONO PRCC SFPQ TFE3
TFEB



Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Translocation renal cell carcinoma

Synonym(s):
- Autosomal recessive spinocerebellar ataxia-12
- SCAR12
Synonym(s):
- Carcinoma associated with MITF/TFE translocation
- Translocation carcinoma
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare oncologic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.