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Spinocerebellar ataxia type 12
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Pulverulent cataract
7 OMIM references -
7 associated genes
No signs/symptoms info
Spinocerebellar ataxia type 12
Pulverulent cataract

PPP2R2B
(UniProt - OMIM)
 CRYBB1
(UniProt - OMIM)
CRYGC
(UniProt - OMIM)
GJA3
(UniProt - OMIM)
GJA8
(UniProt - OMIM)
LIM2
(UniProt - OMIM)
MAF
(UniProt - OMIM)
VIM
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PPP2R2B
(0.56)
VIM


Citations in the biomedical literature:


Spinocerebellar ataxia type 12
PPP2R2B
Pulverulent cataract
CRYBB1 CRYGC GJA3 GJA8 LIM2 MAF
VIM



Spinocerebellar ataxia type 12
Pulverulent cataract

Synonym(s):
- SCA12
Synonym(s):
- Dusty cataract
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
7 OMIM references -
No MeSH references
No signs/symptoms info available.