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

IL12RB1
(UniProt - OMIM)
 IL12A
(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)
IL12RB1
(0.75)
IL12A


Citations in the biomedical literature:


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



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

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
Synonym(s):
- Hanot syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare hepatic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the digestive system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
External references:
No OMIM references
No MeSH references
External references:
5 OMIM references -
No MeSH references
No signs/symptoms info available.