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

IL12A ALDH1A3
IL12RB1 GDF3
IRF5 OTX2
MMEL1 PRSS56
POU2AF1 RAX
SPIB SOX2
TNFSF15 VSX2
TNPO3


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
Isolated anophthalmia - microphthalmia
ALDH1A3 GDF3 OTX2 PRSS56 RAX SOX2
VSX2



Primary biliary cirrhosis
Isolated anophthalmia - microphthalmia

Synonym(s):
- Hanot syndrome

Synonym(s):
- Clinical anophthalmia
- Isolated pure microphthalmia
- Primitive anophthalmia

Classification (Orphanet):
- Rare hepatic disease
Classification (Orphanet):
(no data available)

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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.