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Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Myelofibrosis with myeloid metaplasia
1 OMIM reference -
4 associated genes
No signs/symptoms info
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Myelofibrosis with myeloid metaplasia

IFNGR1
(UniProt - OMIM)
 CALR
(UniProt - OMIM)
JAK2
(UniProt - OMIM)
MPL
(UniProt - OMIM)
TET2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
IFNGR1
(0.86)
JAK2


Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
IFNGR1
Myelofibrosis with myeloid metaplasia
CALR JAK2 MPL TET2



Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Myelofibrosis with myeloid metaplasia

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):
- Agnogenic myeloid metaplasia
- Idiopathic myelofibrosis
- Myelosclerosis with myeloid metaplasia
- Primary myelofibrosis
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: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
No OMIM references
1 MeSH reference: C535530
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.