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Childhood absence epilepsy
4 OMIM references -
6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Chuvash erythrocytosis
1 OMIM reference -
1 associated gene
No signs/symptoms info
Childhood absence epilepsy
Chuvash erythrocytosis

CACNA1H
(UniProt - OMIM)
 VHL
(UniProt - OMIM)
GABRA1
(UniProt - OMIM)
GABRB3
(UniProt - OMIM)
GABRG2
(UniProt - OMIM)
JRK
(UniProt - OMIM)
SLC2A1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SLC2A1
(0.68)
VHL


Citations in the biomedical literature:


Childhood absence epilepsy
CACNA1H GABRA1 GABRB3 GABRG2 JRK SLC2A1

Chuvash erythrocytosis
VHL



Childhood absence epilepsy
Chuvash erythrocytosis

Synonym(s):
- Pyknolepsy
Synonym(s):
- Chuvash polycythemia
- Von Hippel-Lindau-dependent polycythemia
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.