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Chilblain lupus
2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Severe combined immunodeficiency due to DNA-PKcs deficiency
1 associated gene
No signs/symptoms info
Chilblain lupus
Severe combined immunodeficiency due to DNA-PKcs deficiency

SAMHD1
(UniProt - OMIM)
 PRKDC
(UniProt - OMIM)
TREX1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TREX1
(0.52)
PRKDC


Citations in the biomedical literature:


Chilblain lupus
SAMHD1 TREX1
Severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC



Chilblain lupus
Severe combined immunodeficiency due to DNA-PKcs deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- SCID due to DNA-PKcs deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
2 OMIM references -
1 MeSH reference: C535924
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.