Cytoscape Web
Click node...

Severe combined immunodeficiency due to DNA-PKcs deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Permanent neonatal diabetes mellitus
1 OMIM reference -
5 associated genes
No signs/symptoms info
Severe combined immunodeficiency due to DNA-PKcs deficiency
Permanent neonatal diabetes mellitus

PRKDC
(UniProt - OMIM)
 ABCC8
(UniProt - OMIM)
GCK
(UniProt - OMIM)
INS
(UniProt - OMIM)
KCNJ11
(UniProt - OMIM)
PDX1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PRKDC
(0.52)
PDX1


Citations in the biomedical literature:


Severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC
Permanent neonatal diabetes mellitus
ABCC8 GCK INS KCNJ11 PDX1



Severe combined immunodeficiency due to DNA-PKcs deficiency
Permanent neonatal diabetes mellitus

Synonym(s):
- SCID due to DNA-PKcs deficiency
Synonym(s):
- PNDM
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Certain conditions originating in the perinatal period -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.