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Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Combined oxidative phosphorylation defect type 14
1 OMIM reference -
1 associated gene
No signs/symptoms info
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Combined oxidative phosphorylation defect type 14

ISG15
(UniProt - OMIM)
 FARS2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ISG15
(0.63)
FARS2


Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15
Combined oxidative phosphorylation defect type 14
FARS2



Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Combined oxidative phosphorylation defect type 14

Synonym(s):
- MSMD due to complete ISG15 deficiency
Synonym(s):
- COXPD14
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.