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PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Lissencephaly due to LIS1 mutation

ISG15 PAFAH1B1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ISG15
(0.63)
PAFAH1B1



Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15
Lissencephaly due to LIS1 mutation
PAFAH1B1



Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Lissencephaly due to LIS1 mutation

Synonym(s):
- MSMD due to complete ISG15 deficiency

Synonym(s):
- PAFAH1B1-associated lissencephaly

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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.