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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
3 associated genes
No signs/symptoms info
Spinocerebellar ataxia type 12
Male infertility with normal virilization due to meiosis defect

PPP2R2B CFTR
SOHLH1
SYCP3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PPP2R2B
(0.63)
CFTR



Citations in the biomedical literature:


Spinocerebellar ataxia type 12
PPP2R2B
Male infertility with normal virilization due to meiosis defect
CFTR SOHLH1 SYCP3



Spinocerebellar ataxia type 12
Male infertility with normal virilization due to meiosis defect

Synonym(s):
- SCA12

Synonym(s):
- Azoospermia due to maturation arrest
- Azoospermia due to meiosis defect
- Male infertility with normal virilization due to maturation arrest

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

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: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.