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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
6 associated genes
No signs/symptoms info
Autosomal dominant nonsyndromic intellectual deficit
Childhood absence epilepsy

CACNG2 CACNA1H
CDH15 GABRA1
CTNNB1 GABRB3
DOCK8 GABRG2
DYNC1H1 JRK
DYRK1A SLC2A1
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.75)
JRK



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Childhood absence epilepsy
CACNA1H GABRA1 GABRB3 GABRG2 JRK SLC2A1



Autosomal dominant nonsyndromic intellectual deficit
Childhood absence epilepsy

Synonym(s):
(no synonyms)

Synonym(s):
- Pyknolepsy

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
13 OMIM references -
No MeSH references
External references:
4 OMIM references -
No MeSH references

No signs/symptoms info available.