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4 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Dowling-Degos disease
Spinocerebellar ataxia type 12

KRT5 PPP2R2B
POFUT1
POGLUT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT5
(0.68)
PPP2R2B



Citations in the biomedical literature:


Dowling-Degos disease
KRT5 POFUT1 POGLUT1
Spinocerebellar ataxia type 12
PPP2R2B



Dowling-Degos disease
Spinocerebellar ataxia type 12

Synonym(s):
- Reticular pigment anomaly of flexures

Synonym(s):
- SCA12

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.