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Primary biliary cirrhosis
5 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Combined oxidative phosphorylation defect type 17
1 OMIM reference -
1 associated gene
No signs/symptoms info
Primary biliary cirrhosis
Combined oxidative phosphorylation defect type 17

IL12A
(UniProt - OMIM)
 ELAC2
(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)
TNPO3
(0.63)
ELAC2


Citations in the biomedical literature:


Primary biliary cirrhosis
IL12A IL12RB1 IRF5 MMEL1 POU2AF1 SPIB
TNFSF15 TNPO3
Combined oxidative phosphorylation defect type 17
ELAC2



Primary biliary cirrhosis
Combined oxidative phosphorylation defect type 17

Synonym(s):
- Hanot syndrome
Synonym(s):
- COXPD17
Classification (Orphanet):
- Rare hepatic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.