Disease table of EPISODIC ATAXIA OMIM ID: PS160120

Gene-disease associations table

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Gene	Associated with EPISODIC ATAXIA in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
CACNA1A	ClinVar, OMIM, HUMSAVAR	HGNC link	19p13.13	3	PS160120, 141500, PS164400
CACNB4	ClinVar, OMIM, HUMSAVAR	HGNC link	2q23.3	2	607682, PS160120
KCNA1	ClinVar, OMIM, HUMSAVAR	HGNC link	12p13.32	1	PS160120
SLC1A3	ClinVar, OMIM, HUMSAVAR	HGNC link	5p13.2	1	PS160120

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Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

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regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
SLC1A3	YES	2	SP3, USF1	0

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Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
CACNA1A	CACNB4	Yes	0
CACNA1A	SLC1A3	No	1	TCTN3

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic

Interactions from STRING

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

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KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Glutamatergic synapse	hsa04724	5.84	2	CACNA1A, SLC1A3
MAPK signaling pathway	hsa04010	4.63	2	CACNA1A, CACNB4

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NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Glutamatergic synapse (hsa04724)	-	5.84	0.029	CACNA1A, SLC1A3

REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

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REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels	R-HSA-112308	9.28	2	CACNA1A, CACNB4
Transmission across Chemical Synapses	R-HSA-112315	5.28	3	CACNA1A, SLC1A3, CACNB4
Neuronal System	R-HSA-112316	4.82	4	CACNA1A, CACNB4, KCNA1, SLC1A3

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels (R-HSA-112308)	-	9.28	0.0	CACNA1A, CACNB4
Transmission across Chemical Synapses (R-HSA-112315)	-	5.28	0.007	CACNA1A, SLC1A3, CACNB4
Neuronal System (R-HSA-112316)	-	4.82	0.0	CACNA1A, SLC1A3, KCNA1, CACNB4

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GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
high voltage-gated calcium channel activity (GO:0008331)	7.34	2	CACNA1A, CACNB4
voltage-gated calcium channel activity (GO:0005245)	6.0	2	CACNA1A, CACNB4
calcium channel activity (GO:0005262)	5.03	2	CACNA1A, CACNB4
calcium ion transmembrane transporter activity (GO:0015085)	4.89	2	CACNA1A, CACNB4
voltage-gated cation channel activity (GO:0022843)	4.83	3	CACNA1A, CACNB4, KCNA1
divalent inorganic cation transmembrane transporter activity (GO:0072509)	4.62	2	CACNA1A, CACNB4
voltage-gated channel activity (GO:0022832)	4.49	3	CACNA1A, CACNB4, KCNA1
voltage-gated ion channel activity (GO:0005244)	4.49	3	CACNA1A, CACNB4, KCNA1
cation channel activity (GO:0005261)	4.04	3	CACNA1A, CACNB4, KCNA1
gated channel activity (GO:0022836)	3.96	3	CACNA1A, CACNB4, KCNA1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
voltage-gated calcium channel activity (GO:0005245)	-	6.0	0.006	CACNA1A, CACNB4
calcium channel activity (GO:0005262)	-	5.03	0.014	CACNA1A, CACNB4
calcium ion transmembrane transporter activity (GO:0015085)	-	4.89	0.02	CACNA1A, CACNB4
voltage-gated cation channel activity (GO:0022843)	-	4.83	0.002	CACNA1A, CACNB4, KCNA1
divalent inorganic cation transmembrane transporter activity (GO:0072509)	-	4.62	0.03	CACNA1A, CACNB4
voltage-gated ion channel activity (GO:0005244)	-	4.49	0.003	CACNA1A, CACNB4, KCNA1
voltage-gated channel activity (GO:0022832)	-	4.49	0.003	CACNA1A, CACNB4, KCNA1
cation channel activity (GO:0005261)	-	4.04	0.001	CACNA1A, CACNB4, KCNA1
gated channel activity (GO:0022836)	-	3.96	0.019	CACNA1A, CACNB4, KCNA1
metal ion transmembrane transporter activity (GO:0046873)	-	3.71	0.0	CACNA1A, CACNB4, KCNA1, SLC1A3

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GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
gamma-aminobutyric acid secretion (GO:0014051)	8.12	2	CACNA1A, CACNB4
gamma-aminobutyric acid transport (GO:0015812)	7.43	2	CACNA1A, CACNB4
synaptic transmission, glutamatergic (GO:0035249)	6.64	2	CACNA1A, CACNB4
gamma-aminobutyric acid signaling pathway (GO:0007214)	6.59	2	CACNA1A, CACNB4
acid secretion (GO:0046717)	6.51	2	CACNA1A, CACNB4
adult walking behavior (GO:0007628)	6.23	2	CACNA1A, CACNB4
walking behavior (GO:0090659)	6.23	2	CACNA1A, CACNB4
neuromuscular process controlling balance (GO:0050885)	5.88	2	CACNA1A, SLC1A3
neuron-neuron synaptic transmission (GO:0007270)	5.74	2	CACNA1A, CACNB4
membrane depolarization (GO:0051899)	5.62	2	CACNA1A, CACNB4

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
gamma-aminobutyric acid secretion (GO:0014051)	-	8.12	0.0	CACNA1A, CACNB4
gamma-aminobutyric acid transport (GO:0015812)	-	7.43	0.002	CACNA1A, CACNB4
synaptic transmission, glutamatergic (GO:0035249)	-	6.64	0.03	CACNA1A, CACNB4
gamma-aminobutyric acid signaling pathway (GO:0007214)	-	6.59	0.004	CACNA1A, CACNB4
acid secretion (GO:0046717)	-	6.51	0.014	CACNA1A, CACNB4
adult walking behavior (GO:0007628)	-	6.23	0.009	CACNA1A, CACNB4
neuromuscular process controlling balance (GO:0050885)	-	5.88	0.013	CACNA1A, SLC1A3
neuron-neuron synaptic transmission (GO:0007270)	-	5.74	0.022	CACNA1A, CACNB4
adult locomotory behavior (GO:0008344)	-	5.3	0.049	CACNA1A, CACNB4
amino acid transport (GO:0006865)	-	5.29	0.0	CACNA1A, CACNB4, SLC1A3

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GO - cellular component annotation: shared terms / NET-GE enrichment

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GO	IC	Number of genes with the same GO	Genes
voltage-gated calcium channel complex (GO:0005891)	6.11	2	CACNA1A, CACNB4
calcium channel complex (GO:0034704)	5.72	2	CACNA1A, CACNB4
cation channel complex (GO:0034703)	4.69	3	CACNA1A, CACNB4, KCNA1
ion channel complex (GO:0034702)	4.18	3	CACNA1A, CACNB4, KCNA1
transmembrane transporter complex (GO:1902495)	4.06	3	CACNA1A, CACNB4, KCNA1
transporter complex (GO:1990351)	4.04	3	CACNA1A, CACNB4, KCNA1
dendrite (GO:0030425)	3.92	2	CACNA1A, KCNA1
neuronal cell body (GO:0043025)	3.9	3	CACNA1A, SLC1A3, KCNA1
cell body (GO:0044297)	3.74	3	CACNA1A, SLC1A3, KCNA1
synapse (GO:0045202)	3.58	3	SLC1A3, KCNA1, CACNB4

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
voltage-gated calcium channel complex (GO:0005891)	-	6.11	0.002	CACNA1A, CACNB4
calcium channel complex (GO:0034704)	-	5.72	0.002	CACNA1A, CACNB4
cation channel complex (GO:0034703)	-	4.69	0.001	CACNA1A, CACNB4, KCNA1
ion channel complex (GO:0034702)	-	4.18	0.005	CACNA1A, CACNB4, KCNA1
transmembrane transporter complex (GO:1902495)	-	4.06	0.001	CACNA1A, CACNB4, KCNA1
transporter complex (GO:1990351)	-	4.04	0.008	CACNA1A, CACNB4, KCNA1
dendrite (GO:0030425)	-	3.92	0.049	CACNA1A, SLC1A3, KCNA1
neuronal cell body (GO:0043025)	-	3.9	0.028	CACNA1A, SLC1A3, KCNA1
cell body (GO:0044297)	-	3.74	0.042	CACNA1A, SLC1A3, KCNA1
neuron part (GO:0097458)	-	2.64	0.02	CACNA1A, SLC1A3, KCNA1

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