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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
2 associated genes
No signs/symptoms info
Spinocerebellar ataxia type 12
Annular epidermolytic ichthyosis

PPP2R2B KRT1
KRT10


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PPP2R2B
PPP2R2B
(0.68)
(0.68)
KRT1
KRT10



Citations in the biomedical literature:


Spinocerebellar ataxia type 12
PPP2R2B
Annular epidermolytic ichthyosis
KRT1 KRT10



Spinocerebellar ataxia type 12
Annular epidermolytic ichthyosis

Synonym(s):
- SCA12

Synonym(s):
- AEI

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin 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:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.