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Benign paroxysmal torticollis of infancy
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Juvenile myoclonic epilepsy
9 OMIM references -
7 associated genes
No signs/symptoms info
Benign paroxysmal torticollis of infancy
Juvenile myoclonic epilepsy

CACNA1A
(UniProt - OMIM)
 CACNB4
(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)
CACNA1A
(0.85)
CACNB4


Citations in the biomedical literature:


Benign paroxysmal torticollis of infancy
CACNA1A
Juvenile myoclonic epilepsy
CACNB4 CLCN2 EFHC1 GABRA1 GABRD JRK
KCNQ3



Benign paroxysmal torticollis of infancy
Juvenile myoclonic epilepsy

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
9 OMIM references -
1 MeSH reference: D020190
No signs/symptoms info available.