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11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal recessive primary microcephaly
Spinocerebellar ataxia type 17

ASPM TBP
CASC5
CDK5RAP2
CDK6
CENPJ
CEP135
CEP152
CEP63
MCPH1
PHC1
STIL
WDR62


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WDR62
(0.73)
TBP



Citations in the biomedical literature:


Autosomal recessive primary microcephaly
ASPM CASC5 CDK5RAP2 CDK6 CENPJ CEP135
CEP152 CEP63 MCPH1 PHC1 STIL WDR62

Spinocerebellar ataxia type 17
TBP



Autosomal recessive primary microcephaly
Spinocerebellar ataxia type 17

Synonym(s):
- MCPH
- Microcephalia vera
- Microcephaly vera
- True microcephaly

Synonym(s):
- HDL4
- Huntington disease-like 4
- SCA17

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.