Disease table of DYSTONIA OMIM ID: PS128100

Gene-disease associations table

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Gene	Associated with DYSTONIA in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
ANO3	ClinVar, OMIM, HUMSAVAR	HGNC link	11p14.2	1	PS128100
ATP1A3	ClinVar, OMIM, HUMSAVAR	HGNC link	19q13.2	3	601338, PS104290, PS128100
CACNA1B	ClinVar, OMIM, HUMSAVAR	HGNC link	9q34.3	1	PS128100
COL6A3	ClinVar, OMIM, HUMSAVAR	HGNC link	2q37.3	3	PS158810, PS128100, PS254090
DRD2	ClinVar	HGNC link	11q23.2	1	PS128100
GCH1	ClinVar, OMIM, HUMSAVAR	HGNC link	14q22.2	2	PS128100, 233910
GNAL	ClinVar, OMIM, HUMSAVAR	HGNC link	18p11.21	1	PS128100
HPCA	ClinVar, OMIM, HUMSAVAR	HGNC link	1p35.1	1	PS128100
KCTD17	ClinVar, OMIM, HUMSAVAR	HGNC link	22q12.3	1	PS128100
PNKD	ClinVar, OMIM, HUMSAVAR	HGNC link	2q35	1	PS128100

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Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

By band

Shared band	Number of genes associated with the disease	Genes associated with the disease
9q34	2	CACNA1B, TOR1A

By region

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Shared region	Number of genes associated with the disease	Genes associated with the disease
1p3	2	HPCA, SLC2A1
2q3	3	PNKD, PRKRA, COL6A3
9q3	2	CACNA1B, TOR1A

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By arm

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Shared arm	Number of genes associated with the disease	Genes associated with the disease
1p	2	HPCA, SLC2A1
2q	3	PNKD, PRKRA, COL6A3
9q	2	CACNA1B, TOR1A

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By chromosome

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Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
1	2	HPCA, SLC2A1
2	3	PNKD, PRKRA, COL6A3
9	2	CACNA1B, TOR1A
11	2	DRD2, ANO3
19	2	ATP1A3, TUBB4A

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Transcription Factors (TF) annotation from TRRUST

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TF	associated to this disease	# regulated genes	Regulated genes	# regulated genes associated with this disease	Regulated genes associated with this disease
TAF1	YES	4	SRC, LRIG2, CDKN1A, TBP	0

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regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
DRD2	YES	2	NFKB1, RELA	0
SLC2A1	YES	4	ATM, HDAC5, HIF1A, TP53	0

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Interactions from BIOGRID - physical

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Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
THAP1	TAF1	No	1	CSNK2A1
THAP1	GCH1	No	1	CSNK2A1
THAP1	DRD2	No	1	PAWR
THAP1	TOR1A	No	1	KRTAP10-7
THAP1	PNKD	No	1	APP
THAP1	PRKRA	No	2	C1ORF35, RALYL
KCTD17	TAF1	No	2	TINF2, TP53
KCTD17	HPCA	No	1	TP53
KCTD17	TUBB4A	No	2	TINF2, CUL3
KCTD17	ANO3	No	1	RAPGEF2

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

Interactions from BIOGRID - genetic

Interactions from STRING

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Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
THAP1	DRD2	No	-	1	CCL21
TAF1	CACNA1B	No	-	1	UBC
TAF1	SLC2A1	No	-	3	MAX, UBC, EP300
TAF1	TUBB4A	No	-	1	UBC
TAF1	GNAL	No	-	1	UBC
TAF1	ATP1A3	No	-	1	UBC
CACNA1B	DRD2	No	-	17	GNGT2, GNG2, GNB5, GNAO1, GNG10, GNG13, GNB2, GNG4, GNAI3, GNG11, GNG5, GNGT1, GNB4, GNG3, GNG12, GNG7, GNG8
CACNA1B	SLC2A1	No	-	1	UBC
CACNA1B	TUBB4A	No	-	1	UBC
CACNA1B	GNAL	No	-	4	GNAI3, UBC, GNGT1, GNG2

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

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
Bile secretion	hsa04976	6.56	2	ATP1A3, SLC2A1
Gap junction	hsa04540	6.24	2	TUBB4A, DRD2
Protein digestion and absorption	hsa04974	6.2	2	COL6A3, ATP1A3
Insulin secretion	hsa04911	6.18	2	ATP1A3, SLC2A1
Thyroid hormone signaling pathway	hsa04919	5.82	2	ATP1A3, SLC2A1
Dopaminergic synapse	hsa04728	5.69	3	CACNA1B, DRD2, GNAL
Parkinson's disease	hsa05012	5.59	2	DRD2, GNAL
Calcium signaling pathway	hsa04020	5.22	2	CACNA1B, GNAL
cAMP signaling pathway	hsa04024	5.05	2	ATP1A3, DRD2

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NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Dopaminergic synapse (hsa04728)	-	5.69	0.044	CACNA1B, DRD2, GNAL

REACTOME pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

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REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Ion channel transport	R-HSA-983712	5.34	2	ATP1A3, ANO3
Transmission across Chemical Synapses	R-HSA-112315	5.28	2	CACNA1B, GNAL
Neuronal System	R-HSA-112316	4.82	2	CACNA1B, GNAL
Axon guidance	R-HSA-422475	3.93	2	TUBB4A, COL6A3
Transmembrane transport of small molecules	R-HSA-382551	3.79	3	ATP1A3, SLC2A1, ANO3
Developmental Biology	R-HSA-1266738	3.48	2	TUBB4A, COL6A3
GPCR downstream signaling	R-HSA-388396	3.07	2	DRD2, GNAL
Gene Expression	R-HSA-74160	2.72	2	PRKRA, TAF1
Signaling by GPCR	R-HSA-372790	2.68	2	DRD2, GNAL
Metabolism	R-HSA-1430728	2.34	2	SLC2A1, GCH1

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GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

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GO	IC	Number of genes with the same GO	Genes
GTPase activity (GO:0003924)	4.31	2	TUBB4A, GNAL
gated channel activity (GO:0022836)	3.96	2	CACNA1B, ANO3
GTP binding (GO:0005525)	3.78	3	TUBB4A, GCH1, GNAL
guanyl nucleotide binding (GO:0019001)	3.73	3	TUBB4A, GCH1, GNAL
guanyl ribonucleotide binding (GO:0032561)	3.73	3	TUBB4A, GCH1, GNAL
metal ion transmembrane transporter activity (GO:0046873)	3.71	2	CACNA1B, ATP1A3
ion channel activity (GO:0005216)	3.71	2	CACNA1B, ANO3
substrate-specific channel activity (GO:0022838)	3.67	2	CACNA1B, ANO3
ATPase activity (GO:0016887)	3.65	2	ATP1A3, TOR1A
passive transmembrane transporter activity (GO:0022803)	3.6	2	CACNA1B, ANO3

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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
regulation of dopamine uptake involved in synaptic transmission (GO:0051584)	7.65	2	TOR1A, DRD2
regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)	7.65	2	TOR1A, DRD2
neuromuscular process controlling posture (GO:0050884)	7.24	3	PRRT2, GCH1, PNKD
regulation of neurotransmitter uptake (GO:0051580)	7.02	2	DRD2, TOR1A
regulation of synaptic transmission, dopaminergic (GO:0032225)	6.9	3	DRD2, PNKD, TOR1A
response to pain (GO:0048265)	6.78	2	CACNA1B, GCH1
dopamine metabolic process (GO:0042417)	6.51	2	DRD2, GCH1
negative regulation of cyclase activity (GO:0031280)	6.51	2	HPCA, DRD2
negative regulation of lyase activity (GO:0051350)	6.43	2	HPCA, DRD2
dopamine receptor signaling pathway (GO:0007212)	6.26	2	DRD2, GNAL

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)	-	7.65	0.03	DRD2, TOR1A
regulation of dopamine uptake involved in synaptic transmission (GO:0051584)	-	7.65	0.03	DRD2, TOR1A
neuromuscular process controlling posture (GO:0050884)	-	7.24	0.005	PRRT2, PNKD, GCH1
regulation of synaptic transmission, dopaminergic (GO:0032225)	-	6.9	0.0	TOR1A, PNKD, DRD2
neurological system process (GO:0050877)	-	2.64	0.048	ATP1A3, GNAL, GCH1, PRRT2, DRD2, SLC2A1, TAF1, SGCE, TUBB4A, PNKD

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

Shared terms

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GO	IC	Number of genes with the same GO	Genes
dendritic spine head (GO:0044327)	7.61	2	ATP1A3, HPCA
dendrite membrane (GO:0032590)	7.09	2	HPCA, SGCE
neuron projection membrane (GO:0032589)	6.19	2	HPCA, SGCE
sarcolemma (GO:0042383)	5.2	3	ATP1A3, COL6A3, SGCE
perikaryon (GO:0043204)	5.13	2	HPCA, DRD2
leading edge membrane (GO:0031256)	4.9	2	HPCA, SGCE
myelin sheath (GO:0043209)	4.76	2	TUBB4A, ATP1A3
endoplasmic reticulum lumen (GO:0005788)	4.5	2	COL6A3, TOR1A
axon part (GO:0033267)	4.4	2	TUBB4A, DRD2
secretory granule (GO:0030141)	4.34	2	TOR1A, DRD2

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
myelin sheath (GO:0043209)	-	4.76	0.014	TUBB4A, ATP1A3
cell projection part (GO:0044463)	-	2.97	0.033	TOR1A, ATP1A3, SGCE, DRD2, TUBB4A
cell junction (GO:0030054)	-	2.75	0.027	CACNA1B, TOR1A, GCH1, PRRT2, ATP1A3, DRD2, SLC2A1, TAF1, SGCE, TUBB4A
neuron part (GO:0097458)	-	2.64	0.01	ATP1A3, TOR1A, CACNA1B, DRD2, SGCE, TUBB4A

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