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5 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
Primary biliary cirrhosis
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

IL12A IL12B
IL12RB1
IRF5
MMEL1
POU2AF1
SPIB
TNFSF15
TNPO3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IL12A
IL12RB1
(0.9)
(0.69)
IL12B
IL12B



Citations in the biomedical literature:


Primary biliary cirrhosis
IL12A IL12RB1 IRF5 MMEL1 POU2AF1 SPIB
TNFSF15 TNPO3
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
IL12B



Primary biliary cirrhosis
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency

Synonym(s):
- Hanot syndrome

Synonym(s):
- MSMD due to complete IL12B deficiency
- MSMD due to complete interleukin 12B deficiency
- Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
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.