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Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Pulverulent cataract
7 OMIM references -
7 associated genes
No signs/symptoms info
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Pulverulent cataract

ISG15
(UniProt - OMIM)
 CRYBB1
(UniProt - OMIM)
CRYGC
(UniProt - OMIM)
GJA3
(UniProt - OMIM)
GJA8
(UniProt - OMIM)
LIM2
(UniProt - OMIM)
MAF
(UniProt - OMIM)
VIM
(UniProt - OMIM)

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


Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15
Pulverulent cataract
CRYBB1 CRYGC GJA3 GJA8 LIM2 MAF
VIM



Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Pulverulent cataract

Synonym(s):
- MSMD due to complete ISG15 deficiency
Synonym(s):
- Dusty cataract
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic 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:
7 OMIM references -
No MeSH references
No signs/symptoms info available.