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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Xeroderma pigmentosum complementation group D
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

ERCC2 ISG15


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ERCC2
(0.63)
ISG15



Citations in the biomedical literature:


Xeroderma pigmentosum complementation group D
ERCC2
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15



Xeroderma pigmentosum complementation group D
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Synonym(s):
- XPD

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

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare otorhinolaryngologic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.