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Primary biliary cirrhosis
5 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Primary biliary cirrhosis
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

IL12A
(UniProt - OMIM)
 EP300
(UniProt - OMIM)
IL12RB1
(UniProt - OMIM)
IRF5
(UniProt - OMIM)
MMEL1
(UniProt)
POU2AF1
(UniProt - OMIM)
SPIB
(UniProt - OMIM)
TNFSF15
(UniProt - OMIM)
TNPO3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
IRF5
(0.68)
EP300


Citations in the biomedical literature:


Primary biliary cirrhosis
IL12A IL12RB1 IRF5 MMEL1 POU2AF1 SPIB
TNFSF15 TNPO3
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300



Primary biliary cirrhosis
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

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.