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Spinocerebellar ataxia with epilepsy
1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
Autosomal dominant progressive external ophthalmoplegia
5 OMIM references -
5 associated genes
No signs/symptoms info
Spinocerebellar ataxia with epilepsy
Autosomal dominant progressive external ophthalmoplegia

POLG
(UniProt - OMIM)
 C10ORF2
(UniProt - OMIM)
POLG
(UniProt - OMIM)
POLG2
(UniProt - OMIM)
RRM2B
(UniProt - OMIM)
SLC25A4
(UniProt - OMIM)

COMMON
GENES 		POLG
INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
POLG
(0.97)
POLG2


Citations in the biomedical literature:


Spinocerebellar ataxia with epilepsy
POLG
Autosomal dominant progressive external ophthalmoplegia
C10ORF2 POLG2 RRM2B SLC25A4



Spinocerebellar ataxia with epilepsy
Autosomal dominant progressive external ophthalmoplegia

Synonym(s):
- MSCAE
- Mitochondrial spinocerebellar ataxia with epilepsy
- SCAE
Synonym(s):
- adPEO
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
Class of prevalence: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
5 OMIM references -
No MeSH references
No signs/symptoms info available.