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Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Juvenile myelomonocytic leukemia
1 OMIM reference -
5 associated genes
No signs/symptoms info
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Juvenile myelomonocytic leukemia

IFNGR1
(UniProt - OMIM)
 CBL
(UniProt - OMIM)
KRAS
(UniProt - OMIM)
NF1
(UniProt - OMIM)
NRAS
(UniProt - OMIM)
PTPN11
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
IFNGR1
(0.52)
PTPN11


Citations in the biomedical literature:


Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
IFNGR1
Juvenile myelomonocytic leukemia
CBL KRAS NF1 NRAS PTPN11



Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Juvenile myelomonocytic leukemia

Synonym(s):
- Autosomal dominant MSMD due to partial IFNgammaR1 deficiency
- Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
- Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
Synonym(s):
- Juvenile chronic myelomonocytic leukemia
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D054429
No signs/symptoms info available.