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Cluster 58

15 diseases · 36 shared-gene connections

15 Diseases

22 Unique genes

0.268 Avg. similarity score

Paroxysmal dystonic choreoathetosis Most-connected disease (10 links)

Significant edges only (q < 0.05) Spacing Colour by

Disease Searched: infantile convulsions and choreoathetosis Pinned (dragged)

Node size = connections within this cluster · edge thickness = similarity strength · hover an edge for its details · click a node to select it and show its pairs below (double-click or Ctrl/⌘-click opens the disease page) · drag a node to pin it in place · scroll/pinch to zoom.

infantile convulsions and choreoathetosis Paroxysmal dystonic choreoathetosis Episodic kinesigenic dyskinesia Paroxysmal dyskinesia Paroxysmal nonkinesigenic dyskinesia Familial infantile convulsions with paroxysmal choreoathetosis

Member diseases (most connected first ‐ the cluster's core)

Disease ⇵	Connections in cluster ⇵	Significant partners ⇵	Curated genes ⇵
Paroxysmal dystonic choreoathetosis	10	10	4
Episodic kinesigenic dyskinesia	7	7	3
Paroxysmal dyskinesia	7	7	5
Paroxysmal nonkinesigenic dyskinesia	7	7	4
Familial infantile convulsions with paroxysmal choreoathetosis	6	6	1
Childhood-onset glut1 deficiency syndrome 2	5	5	2
Paroxysmal dystonia	5	5	1
infantile convulsions and choreoathetosis	5	5	1
East syndrome	4	4	1
Hereditary continuous muscle fiber activity	4	4	1
Seizures, tonic-clonic, photosensitive	4	4	2
Cerebellar atrophy with seizures and variable developmental delay	3	3	5
Littles disease	2	2	5
generalized epilepsy-paroxysmal dyskinesia syndrome	2	2	1
complex neurodevelopmental disorder with motor features	1	1	6

Top shared genes (genes linked to 2+ member diseases)

Gene ⇵	Member diseases ⇵	Linked diseases
PRRT2	8 / 15	Childhood-onset glut1 deficiency syndrome 2, Episodic kinesigenic dyskinesia, Familial infantile convulsions with paroxysmal choreoathetosis, infantile convulsions and choreoathetosis and 4 more
KCNA1	5 / 15	Episodic kinesigenic dyskinesia, Hereditary continuous muscle fiber activity, Paroxysmal dyskinesia, Paroxysmal dystonic choreoathetosis and 1 more
KCNJ10	5 / 15	East syndrome, Littles disease, Paroxysmal dyskinesia, Paroxysmal dystonic choreoathetosis and 1 more
KCNMA1	3 / 15	Cerebellar atrophy with seizures and variable developmental delay, generalized epilepsy-paroxysmal dyskinesia syndrome, Paroxysmal nonkinesigenic dyskinesia
SLC2A1	3 / 15	Childhood-onset glut1 deficiency syndrome 2, Paroxysmal dyskinesia, Paroxysmal dystonic choreoathetosis
EMC1	2 / 15	Cerebellar atrophy with seizures and variable developmental delay, complex neurodevelopmental disorder with motor features

What do these columns mean?

Connections in cluster: How many other members this disease has a shared-gene link to (the node size in the network above). The most-connected diseases are the cluster's core.
Significant partners: How many of those links are statistically significant (FDR q < 0.05).
Curated genes: Distinct curated genes linked to that disease in GeDiPNet.
Member diseases (Top shared genes): How many of this cluster's diseases are linked to the gene, out of the cluster's total. Genes shared by many members are the most direct explanation of why they group together.
Overlap genes (x / y): x = genes shared between this cluster and the pathway/GO term; y = that pathway/GO term's total gene count. A higher x relative to y (and to the cluster's own size) means a tighter biological match.
Cluster gene count: Total distinct genes across every disease in this cluster -- the "n" used in the significance test below.
Fold enrichment: Observed overlap divided by the overlap expected by chance, given the cluster's gene count, the pathway/term's size and the gene universe tested. 5× means five times more shared genes than random. Tells strong hits apart when q-values are all vanishingly small.
P-value / FDR q-value: Is this pathway/GO term's overlap with the cluster more than chance? Upper-tail hypergeometric test, Benjamini-Hochberg corrected across every tested pathway/term (prefer the q-value -- it accounts for testing many at once).
Shared genes (Pairs within this cluster): Number of curated genes the two diseases in that row have in common.
Similarity score (Pairs within this cluster): Jaccard-based gene overlap between the two specific diseases in that row -- same metric as the main Shared-Gene Disease Pairs page.

Enriched Pathways (why this cluster is grouped, biologically)

Pathway ⇵	Source ⇵	Overlap genes ⇵	Fold enrichment ⇵	P-value ⇵	FDR q-value ⇵
Presynaptic depolarization and calcium channel opening CACNA2D2, CACNA1B	Reactome	2 / 12	91.0×	2.09e-4	4.15e-3 ✓ sig.
Regulation of insulin secretion CACNA2D2, SLC2A1	Reactome	2 / 16	68.2×	3.78e-4	6.65e-3 ✓ sig.
Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1) SLC2A1	Reactome	1 / 1	546×	1.83e-3	2.22e-2 ✓ sig.
Enzymatic degradation of Dopamine by monoamine oxidase COMT	Reactome	1 / 2	273×	3.66e-3	3.64e-2 ✓ sig.
Enzymatic degradation of dopamine by COMT COMT	Reactome	1 / 3	182×	5.49e-3	4.82e-2 ✓ sig.
Selenocysteine synthesis SEPSECS	Reactome	1 / 3	182×	5.49e-3	4.82e-2 ✓ sig.
Lactose synthesis SLC2A1	Reactome	1 / 3	182×	5.49e-3	4.82e-2 ✓ sig.
Potassium transport channels KCNJ10	Reactome	1 / 3	182×	5.49e-3	4.82e-2 ✓ sig.
Synaptic vesicle cycle STXBP1, CACNA1B	KEGG	2 / 79	13.8×	9.06e-3	6.68e-2
Insulin secretion KCNMA1, SLC2A1	KEGG	2 / 86	12.7×	1.07e-2	7.39e-2
Vitamin C (ascorbate) metabolism SLC2A1	Reactome	1 / 8	68.2×	1.46e-2	8.89e-2
Pancreatic secretion KCNMA1, RAB11A	KEGG	2 / 102	10.7×	1.48e-2	8.98e-2
Ca2+ activated K+ channels KCNMA1	Reactome	1 / 9	60.7×	1.64e-2	9.53e-2
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 IFIH1	Reactome	1 / 12	45.5×	2.18e-2	1.12e-1
GABA synthesis, release, reuptake and degradation STXBP1	Reactome	1 / 13	42.0×	2.36e-2	1.18e-1

Enriched GO Terms (Biological Process, a second line of biological evidence)

GO term ⇵	GO ID ⇵	Overlap genes ⇵	Fold enrichment ⇵	P-value ⇵	FDR q-value ⇵
synaptic vesicle maturation ZDHHC15, STXBP1	GO:0016188	2 / 9	189×	4.74e-5	1.79e-3 ✓ sig.
monoatomic ion transmembrane transport CACNA2D2, KCNMA1, KCNA1, KCNJ10, CACNA1B	GO:0034220	5 / 404	10.5×	8.96e-5	2.89e-3 ✓ sig.
regulation of membrane potential KCNMA1, KCNA1, KCNJ10	GO:0042391	3 / 85	30.0×	1.31e-4	3.83e-3 ✓ sig.
neuromuscular process controlling posture PRRT2, PNKD	GO:0050884	2 / 15	113×	1.38e-4	3.96e-3 ✓ sig.
regulation of long-term neuronal synaptic plasticity KCNJ10, RAB11A	GO:0048169	2 / 18	94.4×	2.00e-4	5.22e-3 ✓ sig.
startle response KCNA1, COMT	GO:0001964	2 / 18	94.4×	2.00e-4	5.22e-3 ✓ sig.
transmembrane transport CYB561D2, KCNMA1, SLC2A1, KCNA1, CACNA1B	GO:0055085	5 / 557	7.6×	3.99e-4	8.48e-3 ✓ sig.
vesicle docking involved in exocytosis STXBP1, RAB11A	GO:0006904	2 / 29	58.6×	5.27e-4	1.03e-2 ✓ sig.
potassium ion transmembrane transport KCNMA1, KCNA1, KCNJ10	GO:0071805	3 / 150	17.0×	6.98e-4	1.24e-2 ✓ sig.
potassium ion transport KCNMA1, KCNA1, KCNJ10	GO:0006813	3 / 152	16.8×	7.25e-4	1.27e-2 ✓ sig.
monoatomic ion transport CACNA2D2, KCNMA1, KCNA1, KCNJ10, CACNA1B	GO:0006811	5 / 667	6.4×	9.07e-4	1.47e-2 ✓ sig.
response to hypoxia KCNMA1, SLC2A1, COMT	GO:0001666	3 / 176	14.5×	1.11e-3	1.67e-2 ✓ sig.
catecholamine catabolic process COMT	GO:0042424	1 / 1	849×	1.18e-3	1.72e-2 ✓ sig.
norepinephrine secretion COMT	GO:0048243	1 / 1	849×	1.18e-3	1.72e-2 ✓ sig.
response to dopamine COMT	GO:1903350	1 / 1	849×	1.18e-3	1.72e-2 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵	Disease B ⇵	Similarity score ⇵	Shared genes ⇵	P-value ⇵	FDR q-value ⇵
Paroxysmal dyskinesia	Paroxysmal dystonic choreoathetosis	0.667	4	2.14e-15	3.12e-14 ✓ sig.
Childhood-onset glut1 deficiency syndrome 2	Paroxysmal dystonic choreoathetosis	0.400	2	5.06e-8	3.71e-7 ✓ sig.
Childhood-onset glut1 deficiency syndrome 2	Paroxysmal dyskinesia	0.333	2	8.44e-8	5.94e-7 ✓ sig.
Episodic kinesigenic dyskinesia	Paroxysmal dystonic choreoathetosis	0.333	2	1.52e-7	1.03e-6 ✓ sig.
Episodic kinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	0.333	2	1.52e-7	1.03e-6 ✓ sig.
Episodic kinesigenic dyskinesia	Paroxysmal dyskinesia	0.286	2	2.53e-7	1.65e-6 ✓ sig.
Paroxysmal dystonic choreoathetosis	Paroxysmal nonkinesigenic dyskinesia	0.286	2	3.04e-7	1.95e-6 ✓ sig.
Paroxysmal dyskinesia	Paroxysmal nonkinesigenic dyskinesia	0.250	2	5.06e-7	3.14e-6 ✓ sig.
infantile convulsions and choreoathetosis	Paroxysmal dystonia	0.500	1	6.49e-5	2.33e-4 ✓ sig.
Familial infantile convulsions with paroxysmal choreoathetosis	infantile convulsions and choreoathetosis	0.500	1	6.49e-5	2.33e-4 ✓ sig.
Familial infantile convulsions with paroxysmal choreoathetosis	Paroxysmal dystonia	0.500	1	6.49e-5	2.33e-4 ✓ sig.
Childhood-onset glut1 deficiency syndrome 2	Familial infantile convulsions with paroxysmal choreoathetosis	0.333	1	1.30e-4	3.93e-4 ✓ sig.
Childhood-onset glut1 deficiency syndrome 2	Paroxysmal dystonia	0.333	1	1.30e-4	3.93e-4 ✓ sig.
Childhood-onset glut1 deficiency syndrome 2	infantile convulsions and choreoathetosis	0.333	1	1.30e-4	3.93e-4 ✓ sig.
East syndrome	Seizures, tonic-clonic, photosensitive	0.333	1	1.30e-4	3.93e-4 ✓ sig.
Episodic kinesigenic dyskinesia	Familial infantile convulsions with paroxysmal choreoathetosis	0.250	1	1.95e-4	5.35e-4 ✓ sig.
Episodic kinesigenic dyskinesia	Paroxysmal dystonia	0.250	1	1.95e-4	5.35e-4 ✓ sig.
Episodic kinesigenic dyskinesia	Hereditary continuous muscle fiber activity	0.250	1	1.95e-4	5.35e-4 ✓ sig.
Episodic kinesigenic dyskinesia	infantile convulsions and choreoathetosis	0.250	1	1.95e-4	5.35e-4 ✓ sig.
Familial infantile convulsions with paroxysmal choreoathetosis	Paroxysmal dystonic choreoathetosis	0.200	1	2.60e-4	6.51e-4 ✓ sig.
generalized epilepsy-paroxysmal dyskinesia syndrome	Paroxysmal nonkinesigenic dyskinesia	0.200	1	2.60e-4	6.51e-4 ✓ sig.
Hereditary continuous muscle fiber activity	Paroxysmal dystonic choreoathetosis	0.200	1	2.60e-4	6.51e-4 ✓ sig.
Hereditary continuous muscle fiber activity	Paroxysmal nonkinesigenic dyskinesia	0.200	1	2.60e-4	6.51e-4 ✓ sig.
Paroxysmal dystonia	Paroxysmal dystonic choreoathetosis	0.200	1	2.60e-4	6.51e-4 ✓ sig.
East syndrome	Paroxysmal dystonic choreoathetosis	0.200	1	2.60e-4	6.51e-4 ✓ sig.
infantile convulsions and choreoathetosis	Paroxysmal dystonic choreoathetosis	0.200	1	2.60e-4	6.51e-4 ✓ sig.
Familial infantile convulsions with paroxysmal choreoathetosis	Paroxysmal nonkinesigenic dyskinesia	0.200	1	2.60e-4	6.51e-4 ✓ sig.
Cerebellar atrophy with seizures and variable developmental delay	generalized epilepsy-paroxysmal dyskinesia syndrome	0.167	1	3.25e-4	7.71e-4 ✓ sig.
East syndrome	Littles disease	0.167	1	3.25e-4	7.71e-4 ✓ sig.
East syndrome	Paroxysmal dyskinesia	0.167	1	3.25e-4	7.71e-4 ✓ sig.
Hereditary continuous muscle fiber activity	Paroxysmal dyskinesia	0.167	1	3.25e-4	7.71e-4 ✓ sig.
Paroxysmal dystonic choreoathetosis	Seizures, tonic-clonic, photosensitive	0.167	1	5.19e-4	1.06e-3 ✓ sig.
Paroxysmal dyskinesia	Seizures, tonic-clonic, photosensitive	0.143	1	6.49e-4	1.24e-3 ✓ sig.
Littles disease	Seizures, tonic-clonic, photosensitive	0.143	1	6.49e-4	1.24e-3 ✓ sig.
Cerebellar atrophy with seizures and variable developmental delay	Paroxysmal nonkinesigenic dyskinesia	0.111	1	1.30e-3	2.06e-3 ✓ sig.
Cerebellar atrophy with seizures and variable developmental delay	complex neurodevelopmental disorder with motor features	0.091	1	1.95e-3	2.83e-3 ✓ sig.

Disease Clusters?