Disease Clusters?

Groups of diseases that share a large number of curated genes with each other, computed via label propagation over the shared-gene similarity graph. See also Shared-Gene Disease Pairs for pairwise comparisons.

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Cluster 85

13 diseases · 34 shared-gene connections
13 Diseases
17 Unique genes
0.284 Avg. similarity score
Paroxysmal dystonic choreoathetosis Most-connected disease (9 links)
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Disease 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.

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

Disease ⇵ Connections in cluster ⇵ Significant partners ⇵ Curated genes ⇵
Paroxysmal dystonic choreoathetosis 9 9 4
Episodic kinesigenic dyskinesia 8 8 3
Paroxysmal nonkinesigenic dyskinesia 8 8 4
Familial infantile convulsions with paroxysmal choreoathetosis 6 6 1
Paroxysmal dyskinesia 6 6 5
Childhood-onset glut1 deficiency syndrome 2 5 5 2
Hereditary continuous muscle fiber activity 5 5 1
Paroxysmal dystonia 5 5 1
episodic ataxia type 1 5 5 1
infantile convulsions and choreoathetosis 5 5 1
Cerebellar atrophy with seizures and variable developmental delay 3 3 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 / 13 Childhood-onset glut1 deficiency syndrome 2, Episodic kinesigenic dyskinesia, Familial infantile convulsions with paroxysmal choreoathetosis, infantile convulsions and choreoathetosis and 4 more
KCNA1 6 / 13 episodic ataxia type 1, Episodic kinesigenic dyskinesia, Hereditary continuous muscle fiber activity, Paroxysmal dyskinesia and 2 more
KCNMA1 3 / 13 Cerebellar atrophy with seizures and variable developmental delay, generalized epilepsy-paroxysmal dyskinesia syndrome, Paroxysmal nonkinesigenic dyskinesia
SLC2A1 3 / 13 Childhood-onset glut1 deficiency syndrome 2, Paroxysmal dyskinesia, Paroxysmal dystonic choreoathetosis
EMC1 2 / 13 Cerebellar atrophy with seizures and variable developmental delay, complex neurodevelopmental disorder with motor features
KCNJ10 2 / 13 Paroxysmal dyskinesia, Paroxysmal dystonic choreoathetosis
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 / 12 118× 1.23e-4 2.66e-3 ✓ sig.
Regulation of insulin secretion
CACNA2D2, SLC2A1
 Reactome 2 / 16 88.3× 2.24e-4 4.28e-3 ✓ sig.
Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)
SLC2A1
 Reactome 1 / 1 706× 1.42e-3 1.76e-2 ✓ sig.
Enzymatic degradation of Dopamine by monoamine oxidase
COMT
 Reactome 1 / 2 353× 2.83e-3 2.95e-2 ✓ sig.
Enzymatic degradation of dopamine by COMT
COMT
 Reactome 1 / 3 235× 4.24e-3 3.93e-2 ✓ sig.
Lactose synthesis
SLC2A1
 Reactome 1 / 3 235× 4.24e-3 3.93e-2 ✓ sig.
Potassium transport channels
KCNJ10
 Reactome 1 / 3 235× 4.24e-3 3.93e-2 ✓ sig.
Insulin secretion
KCNMA1, SLC2A1
 KEGG 2 / 86 16.4× 6.43e-3 5.17e-2
Pancreatic secretion
KCNMA1, RAB11A
 KEGG 2 / 102 13.9× 8.94e-3 6.42e-2
Vitamin C (ascorbate) metabolism
SLC2A1
 Reactome 1 / 8 88.3× 1.13e-2 7.36e-2
Ca2+ activated K+ channels
KCNMA1
 Reactome 1 / 9 78.5× 1.27e-2 7.87e-2
Dopaminergic synapse
COMT, CACNA1B
 KEGG 2 / 132 10.7× 1.46e-2 8.58e-2
Methylation
COMT
 Reactome 1 / 14 50.5× 1.96e-2 1.02e-1
VxPx cargo-targeting to cilium
RAB11A
 Reactome 1 / 21 33.6× 2.93e-2 1.27e-1
Cellular hexose transport
SLC2A1
 Reactome 1 / 21 33.6× 2.93e-2 1.27e-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 ⇵
monoatomic ion transmembrane transport
CACNA2D2, KCNMA1, KCNA1, KCNJ10, CACNA1B
 GO:0034220 5 / 404 13.6× 2.30e-5 9.99e-4 ✓ sig.
regulation of membrane potential
KCNMA1, KCNA1, KCNJ10
 GO:0042391 3 / 85 38.8× 5.90e-5 2.03e-3 ✓ sig.
neuromuscular process controlling posture
PRRT2, PNKD
 GO:0050884 2 / 15 147× 8.12e-5 2.59e-3 ✓ sig.
transmembrane transport
CYB561D2, KCNMA1, SLC2A1, KCNA1, CACNA1B
 GO:0055085 5 / 557 9.9× 1.06e-4 3.16e-3 ✓ sig.
regulation of long-term neuronal synaptic plasticity
KCNJ10, RAB11A
 GO:0048169 2 / 18 122× 1.18e-4 3.43e-3 ✓ sig.
startle response
KCNA1, COMT
 GO:0001964 2 / 18 122× 1.18e-4 3.43e-3 ✓ sig.
monoatomic ion transport
CACNA2D2, KCNMA1, KCNA1, KCNJ10, CACNA1B
 GO:0006811 5 / 667 8.2× 2.47e-4 5.88e-3 ✓ sig.
potassium ion transmembrane transport
KCNMA1, KCNA1, KCNJ10
 GO:0071805 3 / 150 22.0× 3.17e-4 7.00e-3 ✓ sig.
potassium ion transport
KCNMA1, KCNA1, KCNJ10
 GO:0006813 3 / 152 21.7× 3.30e-4 7.17e-3 ✓ sig.
response to hypoxia
KCNMA1, SLC2A1, COMT
 GO:0001666 3 / 176 18.7× 5.07e-4 9.66e-3 ✓ sig.
catecholamine catabolic process
COMT
 GO:0042424 1 / 1 1,099× 9.10e-4 1.42e-2 ✓ sig.
norepinephrine secretion
COMT
 GO:0048243 1 / 1 1,099× 9.10e-4 1.42e-2 ✓ sig.
response to dopamine
COMT
 GO:1903350 1 / 1 1,099× 9.10e-4 1.42e-2 ✓ sig.
synaptic vesicle endosomal processing
RAB11A
 GO:0099532 1 / 1 1,099× 9.10e-4 1.42e-2 ✓ sig.
negative regulation of short-term synaptic potentiation
PRRT2
 GO:1905513 1 / 1 1,099× 9.10e-4 1.42e-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 3.30e-14 ✓ sig.
Childhood-onset glut1 deficiency syndrome 2 Paroxysmal dystonic choreoathetosis 0.400 2 5.06e-8 3.92e-7 ✓ sig.
Childhood-onset glut1 deficiency syndrome 2 Paroxysmal dyskinesia 0.333 2 8.44e-8 6.27e-7 ✓ sig.
Episodic kinesigenic dyskinesia Paroxysmal nonkinesigenic dyskinesia 0.333 2 1.52e-7 1.09e-6 ✓ sig.
Episodic kinesigenic dyskinesia Paroxysmal dystonic choreoathetosis 0.333 2 1.52e-7 1.09e-6 ✓ sig.
Episodic kinesigenic dyskinesia Paroxysmal dyskinesia 0.286 2 2.53e-7 1.75e-6 ✓ sig.
Paroxysmal dystonic choreoathetosis Paroxysmal nonkinesigenic dyskinesia 0.286 2 3.04e-7 2.06e-6 ✓ sig.
Paroxysmal dyskinesia Paroxysmal nonkinesigenic dyskinesia 0.250 2 5.06e-7 3.32e-6 ✓ sig.
episodic ataxia type 1 Hereditary continuous muscle fiber activity 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Familial infantile convulsions with paroxysmal choreoathetosis Paroxysmal dystonia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Familial infantile convulsions with paroxysmal choreoathetosis infantile convulsions and choreoathetosis 0.500 1 6.49e-5 2.34e-4 ✓ sig.
infantile convulsions and choreoathetosis Paroxysmal dystonia 0.500 1 6.49e-5 2.34e-4 ✓ sig.
Childhood-onset glut1 deficiency syndrome 2 Paroxysmal dystonia 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Childhood-onset glut1 deficiency syndrome 2 Familial infantile convulsions with paroxysmal choreoathetosis 0.333 1 1.30e-4 3.90e-4 ✓ sig.
Childhood-onset glut1 deficiency syndrome 2 infantile convulsions and choreoathetosis 0.333 1 1.30e-4 3.90e-4 ✓ sig.
episodic ataxia type 1 Episodic kinesigenic dyskinesia 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Episodic kinesigenic dyskinesia Familial infantile convulsions with paroxysmal choreoathetosis 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Episodic kinesigenic dyskinesia Paroxysmal dystonia 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Episodic kinesigenic dyskinesia infantile convulsions and choreoathetosis 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Episodic kinesigenic dyskinesia Hereditary continuous muscle fiber activity 0.250 1 1.95e-4 5.28e-4 ✓ sig.
Paroxysmal dystonia Paroxysmal dystonic choreoathetosis 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Familial infantile convulsions with paroxysmal choreoathetosis Paroxysmal nonkinesigenic dyskinesia 0.200 1 2.60e-4 6.40e-4 ✓ sig.
infantile convulsions and choreoathetosis Paroxysmal dystonic choreoathetosis 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Hereditary continuous muscle fiber activity Paroxysmal nonkinesigenic dyskinesia 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Hereditary continuous muscle fiber activity Paroxysmal dystonic choreoathetosis 0.200 1 2.60e-4 6.40e-4 ✓ sig.
generalized epilepsy-paroxysmal dyskinesia syndrome Paroxysmal nonkinesigenic dyskinesia 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Familial infantile convulsions with paroxysmal choreoathetosis Paroxysmal dystonic choreoathetosis 0.200 1 2.60e-4 6.40e-4 ✓ sig.
episodic ataxia type 1 Paroxysmal nonkinesigenic dyskinesia 0.200 1 2.60e-4 6.40e-4 ✓ sig.
episodic ataxia type 1 Paroxysmal dystonic choreoathetosis 0.200 1 2.60e-4 6.40e-4 ✓ sig.
Hereditary continuous muscle fiber activity Paroxysmal dyskinesia 0.167 1 3.25e-4 7.58e-4 ✓ sig.
episodic ataxia type 1 Paroxysmal dyskinesia 0.167 1 3.25e-4 7.58e-4 ✓ sig.
Cerebellar atrophy with seizures and variable developmental delay generalized epilepsy-paroxysmal dyskinesia syndrome 0.167 1 3.25e-4 7.58e-4 ✓ sig.
Cerebellar atrophy with seizures and variable developmental delay Paroxysmal nonkinesigenic dyskinesia 0.111 1 1.30e-3 2.04e-3 ✓ sig.
Cerebellar atrophy with seizures and variable developmental delay complex neurodevelopmental disorder with motor features 0.091 1 1.95e-3 2.81e-3 ✓ sig.