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Juvenile myoclonic epilepsy
9 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hyperinsulinism due to INSR deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Juvenile myoclonic epilepsy
Hyperinsulinism due to INSR deficiency

CACNB4
(UniProt - OMIM)
 INSR
(UniProt - OMIM)
CLCN2
(UniProt - OMIM)
EFHC1
(UniProt - OMIM)
GABRA1
(UniProt - OMIM)
GABRD
(UniProt - OMIM)
JRK
(UniProt - OMIM)
KCNQ3
(UniProt - OMIM)

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


Citations in the biomedical literature:


Juvenile myoclonic epilepsy
CACNB4 CLCN2 EFHC1 GABRA1 GABRD JRK
KCNQ3
Hyperinsulinism due to INSR deficiency
INSR



Juvenile myoclonic epilepsy
Hyperinsulinism due to INSR deficiency

Synonym(s):
(no synonyms)

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: adolescence / young
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:
9 OMIM references -
1 MeSH reference: D020190
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.