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5 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
No signs/symptoms info
Primary biliary cirrhosis
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

IL12A CREBBP
IL12RB1
IRF5
MMEL1
POU2AF1
SPIB
TNFSF15
TNPO3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IRF5
SPIB
(0.88)
(0.55)
CREBBP
CREBBP



Citations in the biomedical literature:


Primary biliary cirrhosis
IL12A IL12RB1 IRF5 MMEL1 POU2AF1 SPIB
TNFSF15 TNPO3
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP



Primary biliary cirrhosis
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Synonym(s):
- Hanot syndrome

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare hepatic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal 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:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.