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Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Idiopathic aplastic anemia
3 OMIM references -
5 associated genes
No signs/symptoms info
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Idiopathic aplastic anemia

IFNGR1
(UniProt - OMIM)
 IFNG
(UniProt - OMIM)
PRF1
(UniProt - OMIM)
SBDS
(UniProt - OMIM)
TERC
(OMIM)
TERT
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
IFNGR1
(0.9)
IFNG


Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
IFNGR1
Idiopathic aplastic anemia
IFNG PRF1 SBDS TERC TERT



Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Idiopathic aplastic anemia

Synonym(s):
- MSMD due to complete IFNgammaR1 deficiency
- MSMD due to complete interferon gamma receptor 1 deficiency
- Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency
Synonym(s):
- Bone marrow failure
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare hematologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: unknown
External references:
No OMIM references
1 MeSH reference: C535530
External references:
3 OMIM references -
1 MeSH reference: C538494
No signs/symptoms info available.