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Primary biliary cirrhosis
5 OMIM references -
8 associated genes
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
1 associated gene
No signs/symptoms info
Primary biliary cirrhosis
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

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

COMMON
GENES 		IL12RB1
INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
IL12A
(0.75)
IL12RB1


Citations in the biomedical literature:


Primary biliary cirrhosis
IL12A IL12RB1 IRF5 MMEL1 POU2AF1 SPIB
TNFSF15 TNPO3
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency



Primary biliary cirrhosis
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

Synonym(s):
- Hanot syndrome
Synonym(s):
- MSMD due to complete IL12RB1 deficiency
- MSMD due to complete interleukin 12 receptor beta 1 deficiency
- Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
Classification (Orphanet):
- Rare hepatic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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: unknown
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal recessive
External references:
5 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.