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8 OMIM references -
6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Generalized epilepsy with febrile seizures-plus context
Hyperinsulinism due to INSR deficiency

GABRD INSR
GABRG2
SCN1A
SCN1B
SCN2A
SCN9A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GABRD
(0.63)
INSR



Citations in the biomedical literature:


Generalized epilepsy with febrile seizures-plus context
GABRD GABRG2 SCN1A SCN1B SCN2A SCN9A

Hyperinsulinism due to INSR deficiency
INSR



Generalized epilepsy with febrile seizures-plus context
Hyperinsulinism due to INSR deficiency

Synonym(s):
- GEFS+

Synonym(s):
- Hyperinsulinemic hypoglycemia due to INSR deficiency
- Hyperinsulinemic hypoglycemia due to insulin receptor deficiency

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.