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Juvenile myoclonic epilepsy
9 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Pilomatrixoma
1 OMIM reference -
1 associated gene
No signs/symptoms info
Juvenile myoclonic epilepsy
Pilomatrixoma

CACNB4
(UniProt - OMIM)
 CTNNB1
(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)
JRK
(0.75)
CTNNB1


Citations in the biomedical literature:


Juvenile myoclonic epilepsy
CACNB4 CLCN2 EFHC1 GABRA1 GABRD JRK
KCNQ3
Pilomatrixoma
CTNNB1



Juvenile myoclonic epilepsy
Pilomatrixoma

Synonym(s):
(no synonyms)

Synonym(s):
- Epithelioma calcificans of Malherbe
- Pilomatricoma
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
9 OMIM references -
1 MeSH reference: D020190
External references:
1 OMIM reference -
1 MeSH reference: D018296
No signs/symptoms info available.