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familial sleep-related hypermotor epilepsy
familial sleep-related hypermotor epilepsy
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
familial sleep-related hypermotor epilepsy
CHRNA2
Unknown
—
ClinGen
Neuroactive ligand-receptor interaction
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
Highly calcium permeable nicotinic acetylcholine receptors
CHRNA4
Unknown
—
ClinGen
Neuroactive ligand-receptor interaction
Cholinergic synapse
Nicotine addiction
Chemical carcinogenesis - receptor activation
Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
Highly calcium permeable nicotinic acetylcholine receptors
+4 more
CHRNB2
Unknown
—
ClinGen
Neuroactive ligand-receptor interaction
Cholinergic synapse
Nicotine addiction
Chemical carcinogenesis - receptor activation
Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
Highly calcium permeable nicotinic acetylcholine receptors
+4 more
All
3
Causal
0
Unknown
3
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
3
Related Diseases
Diseases that share the most curated genes with familial sleep-related hypermotor epilepsy.
5
View disease cluster →
Nocturnal frontal lobe epilepsy
3 shared genes
CHRNA2, CHRNB2, CHRNA4
Related via 3 shared genes including CHRNA2, CHRNB2, CHRNA4.
Frontal lobe epilepsy
2 shared genes
CHRNB2, CHRNA4
Related via 2 shared genes including CHRNB2, CHRNA4.
Bronchus cancer
1 shared gene
CHRNA4
Related via 1 shared gene including CHRNA4.
Respiratory system cancer
1 shared gene
CHRNA4
Related via 1 shared gene including CHRNA4.
Benign infantile epilepsy
1 shared gene
CHRNA2
Related via 1 shared gene including CHRNA2.
1
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