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5 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
11 OMIM references -
12 associated genes
No signs/symptoms info
Primary biliary cirrhosis
Autosomal recessive primary microcephaly

IL12A ASPM
IL12RB1 CASC5
IRF5 CDK5RAP2
MMEL1 CDK6
POU2AF1 CENPJ
SPIB CEP135
TNFSF15 CEP152
TNPO3 CEP63
MCPH1
PHC1
STIL
WDR62


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IRF5
(0.72)
CEP152



Citations in the biomedical literature:


Primary biliary cirrhosis
IL12A IL12RB1 IRF5 MMEL1 POU2AF1 SPIB
TNFSF15 TNPO3
Autosomal recessive primary microcephaly
ASPM CASC5 CDK5RAP2 CDK6 CENPJ CEP135
CEP152 CEP63 MCPH1 PHC1 STIL WDR62



Primary biliary cirrhosis
Autosomal recessive primary microcephaly

Synonym(s):
- Hanot syndrome

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

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

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

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
5 OMIM references -
No MeSH references
External references:
11 OMIM references -
No MeSH references

No signs/symptoms info available.