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5 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
9 OMIM references -
8 associated genes
No signs/symptoms info
Primary biliary cirrhosis
Colobomatous microphthalmia

IL12A ABCB6
IL12RB1 GDF3
IRF5 GDF6
MMEL1 SHH
POU2AF1 SOX2
SPIB STRA6
TNFSF15 TENM3
TNPO3 VSX2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TNPO3
(0.63)
SOX2



Citations in the biomedical literature:


Primary biliary cirrhosis
IL12A IL12RB1 IRF5 MMEL1 POU2AF1 SPIB
TNFSF15 TNPO3
Colobomatous microphthalmia
ABCB6 GDF3 GDF6 SHH SOX2 STRA6
TENM3 VSX2



Primary biliary cirrhosis
Colobomatous microphthalmia

Synonym(s):
- Hanot syndrome

Synonym(s):
- MAC
- Microphthalmia - anophthalmia - coloboma
- Microphthalmia with colobomatous cyst

Classification (Orphanet):
- Rare hepatic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic 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:
(no data available)

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

No signs/symptoms info available.