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Cluster 3

65 diseases · 164 shared-gene connections
65 Diseases
2,115 Unique genes
0.029 Avg. similarity score
Neurodevelopmental disorder Most-connected disease (44 links)
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Disease Searched: Neurodevelopmental disorder with dysmorphic facies and variable seizures 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.
Neurodevelopmental disorder with dysmorphic facies and variable seizures Neurodevelopmental disorder Non-specific syndromic intellectual disability Intellectual developmental disorder Complex neurodevelopmental disorder Intellectual disability

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

Disease ⇵ Connections in cluster ⇵ Significant partners ⇵ Curated genes ⇵
Neurodevelopmental disorder 44 8 1,006
Non-specific syndromic intellectual disability 33 33 368
Intellectual developmental disorder 22 9 817
Complex neurodevelopmental disorder 18 18 134
Intellectual disability 16 16 413
Global developmental delay 14 14 438
Developmental and epileptic encephalopathy 13 13 231
Developmental disorder 10 10 89
Developmental disability 9 9 143
Seizures 7 7 231
Epilepsy 6 6 273
Mental retardation, autosomal recessive 68 5 4 1
Neurodevelopmental disorder with hypotonia, seizures, and absent language 5 4 1
Usmani-riazuddin syndrome 5 4 1
Neurodevelopmental disorder with absent language and variable seizures 5 3 1
1q44 microdeletion syndrome 4 4 1
Congenital neurologic anomalies 4 4 115
Developmental delay 4 4 78
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 4 4 1
Developmental delay with variable neurological abnormalities 4 3 1
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 4 3 1
Intellectual developmental disorder, autosomal dominant 10 4 2 1
Macrocephaly, neurodevelopmental delay, and seizures 4 2 1
Neurodevelopmental disorder with dysmorphic facies and variable seizures 4 2 1
Epileptic encephalopathy, early infantile, 33 3 3 1
Fucosidosis 3 3 1
Intellectual developmental disorder, autosomal dominant 64 3 3 1
Jaberi-elahi syndrome 3 3 1
Dworschak-punetha neurodevelopmental syndrome 3 2 1
Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities 3 2 1
Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities 3 2 1
Intellectual developmental disorder, autosomal dominant 73 3 1 1
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly 3 1 1
Epileptic encephalopathy, early infantile, 68 2 2 1
Intellectual developmental disorder, autosomal dominant 65 2 2 1
Neurodevelopmental disorder with brain abnormalities 2 2 3
Neurodevelopmental disorder with congenital anomalies 2 2 1
Cardiofacio-neurodevelopmental syndrome 2 1 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2 1 1
Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly 2 1 1
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 2 1 1
Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities 2 1 1
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 2 1 1
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities 2 1 1
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 2 1 1
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment 2 1 1
Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities 2 1 1
Neurodevelopmental disorder with or without brain abnormalities 2 1 1
Neurodevelopmental disorder with speech and motor delay and spasticity 2 1 1
Neurodevelopmental disorder with white matter abnormalities and gait disturbance 2 1 1
Suleiman-el-hattab syndrome 2 1 1
Aspartylglucosaminuria 2 0 1
Li-takada-miyake syndrome 2 0 1
Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities 2 0 1
Macrocephaly/megalencephaly syndrome, autosomal recessive 1 1 1
Neurodevelopmental disorder with eye movement abnormalities and ataxia 1 1 1
Kaya-barakat-masson syndrome 1 0 1
Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities 1 0 1
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 1 0 1
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities 1 0 1
Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities 1 0 1
Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia 1 0 1
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity 1 0 1
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 1 0 1
Neurodevelopmental disorder with speech delay and variable ocular anomalies 1 0 1

Top shared genes (genes linked to 2+ member diseases ‐ top 100 shown, download for all)

Gene ⇵ Member diseases ⇵ Linked diseases
GRIN2B 10 / 65 Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Developmental delay, Developmental disability and 6 more
SCN8A 10 / 65 Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Developmental disability, Epilepsy and 6 more
EEF1A2 9 / 65 Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Developmental disability, Epilepsy and 5 more
KCNQ2 9 / 65 Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Developmental disability, Epilepsy and 5 more
NBEA 9 / 65 Complex neurodevelopmental disorder, Developmental disability, Epilepsy, Global developmental delay and 5 more
PURA 9 / 65 Complex neurodevelopmental disorder, Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Epilepsy and 5 more
SCN2A 9 / 65 Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Developmental disability, Epilepsy and 5 more
AP2M1 8 / 65 Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder and 4 more
CDKL5 8 / 65 Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Developmental delay, Epilepsy and 4 more
DYRK1A 8 / 65 Complex neurodevelopmental disorder, Epilepsy, Global developmental delay, Intellectual developmental disorder and 4 more
FOXG1 8 / 65 Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Epilepsy, Global developmental delay and 4 more
KMT2E 8 / 65 Complex neurodevelopmental disorder, Epilepsy, Global developmental delay, Intellectual developmental disorder and 4 more
MECP2 8 / 65 Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Developmental disability, Epilepsy and 4 more
SLC2A1 8 / 65 Developmental and epileptic encephalopathy, Developmental delay, Developmental disability, Epilepsy and 4 more
SYNGAP1 8 / 65 Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Developmental disability, Epilepsy and 4 more
AGO1 7 / 65 Complex neurodevelopmental disorder, Developmental disorder, Intellectual developmental disorder, Intellectual disability and 3 more
ARFGEF1 7 / 65 Developmental disability, Epilepsy, Global developmental delay, Intellectual developmental disorder and 3 more
ATP1A3 7 / 65 Developmental and epileptic encephalopathy, Developmental delay, Epilepsy, Global developmental delay and 3 more
ATP6V0A1 7 / 65 Developmental and epileptic encephalopathy, Developmental disorder, Global developmental delay, Intellectual developmental disorder and 3 more
FLNA 7 / 65 Developmental and epileptic encephalopathy, Developmental delay, Epilepsy, Global developmental delay and 3 more
GABRB2 7 / 65 Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Epilepsy, Intellectual developmental disorder and 3 more
GRIN2A 7 / 65 Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Epilepsy, Global developmental delay and 3 more
HNRNPU 7 / 65 1q44 microdeletion syndrome, Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Epilepsy and 3 more
KCNQ3 7 / 65 Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Intellectual developmental disorder, Intellectual disability and 3 more
POU3F3 7 / 65 Complex neurodevelopmental disorder, Developmental disability, Global developmental delay, Intellectual developmental disorder and 3 more
PTEN 7 / 65 Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Developmental delay, Developmental disability and 3 more
RALA 7 / 65 Complex neurodevelopmental disorder, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 3 more
RBFOX1 7 / 65 Developmental and epileptic encephalopathy, Developmental disorder, Epilepsy, Global developmental delay and 3 more
SCAMP5 7 / 65 Epilepsy, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 3 more
SCN1A 7 / 65 Developmental and epileptic encephalopathy, Epilepsy, Global developmental delay, Intellectual developmental disorder and 3 more
SNAP25 7 / 65 Developmental and epileptic encephalopathy, Epilepsy, Global developmental delay, Intellectual developmental disorder and 3 more
STXBP1 7 / 65 Developmental and epileptic encephalopathy, Developmental disability, Epilepsy, Global developmental delay and 3 more
TCF7L2 7 / 65 Complex neurodevelopmental disorder, Developmental disorder, Global developmental delay, Intellectual developmental disorder and 3 more
UBE3A 7 / 65 Developmental and epileptic encephalopathy, Developmental delay, Developmental disability, Epilepsy and 3 more
ZMIZ1 7 / 65 Complex neurodevelopmental disorder, Developmental disability, Global developmental delay, Intellectual disability and 3 more
ZNF292 7 / 65 Complex neurodevelopmental disorder, Developmental disorder, Intellectual developmental disorder, Intellectual developmental disorder, autosomal dominant 64 and 3 more
ANKRD11 6 / 65 Congenital neurologic anomalies, Developmental disability, Epilepsy, Global developmental delay and 2 more
AP1G1 6 / 65 Complex neurodevelopmental disorder, Epilepsy, Intellectual disability, Neurodevelopmental disorder and 2 more
ARF3 6 / 65 Global developmental delay, Intellectual developmental disorder, Intellectual disability, Neurodevelopmental disorder and 2 more
ARHGEF9 6 / 65 Developmental and epileptic encephalopathy, Developmental disability, Developmental disorder, Epilepsy and 2 more
BRSK2 6 / 65 Complex neurodevelopmental disorder, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 2 more
CACNA2D1 6 / 65 Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 2 more
CACNA2D2 6 / 65 Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Developmental delay, Epilepsy and 2 more
CAMK2B 6 / 65 Congenital neurologic anomalies, Developmental disability, Global developmental delay, Intellectual developmental disorder and 2 more
CASK 6 / 65 Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Developmental disability, Global developmental delay and 2 more
CHD2 6 / 65 Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Epilepsy, Intellectual developmental disorder and 2 more
CHD5 6 / 65 Epilepsy, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 2 more
CHD8 6 / 65 Complex neurodevelopmental disorder, Developmental delay, Developmental disability, Intellectual developmental disorder and 2 more
CNTNAP2 6 / 65 Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Epilepsy, Intellectual developmental disorder and 2 more
CTNNB1 6 / 65 Congenital neurologic anomalies, Developmental disability, Global developmental delay, Intellectual developmental disorder and 2 more
CYFIP2 6 / 65 Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder and 2 more
GRIA3 6 / 65 Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 2 more
HECW2 6 / 65 Complex neurodevelopmental disorder, Congenital neurologic anomalies, Developmental disability, Neurodevelopmental disorder and 2 more
IQSEC2 6 / 65 Developmental and epileptic encephalopathy, Epilepsy, Intellectual developmental disorder, Intellectual disability and 2 more
KCNA2 6 / 65 Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder and 2 more
KCNB1 6 / 65 Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Epilepsy, Intellectual developmental disorder and 2 more
KDM4B 6 / 65 Developmental disability, Developmental disorder, Intellectual developmental disorder, Intellectual developmental disorder, autosomal dominant 65 and 2 more
MBD5 6 / 65 Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder and 2 more
MEF2C 6 / 65 Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Epilepsy, Intellectual developmental disorder and 2 more
NAA15 6 / 65 Developmental disability, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 2 more
NALCN 6 / 65 Congenital neurologic anomalies, Developmental disability, Global developmental delay, Intellectual developmental disorder and 2 more
NCKAP1 6 / 65 Complex neurodevelopmental disorder, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 2 more
NOVA2 6 / 65 Complex neurodevelopmental disorder, Intellectual developmental disorder, Intellectual disability, Neurodevelopmental disorder and 2 more
NRXN1 6 / 65 Complex neurodevelopmental disorder, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 2 more
PACS2 6 / 65 Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 2 more
PNKP 6 / 65 Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Developmental disability, Global developmental delay and 2 more
PPP2CA 6 / 65 Complex neurodevelopmental disorder, Global developmental delay, Intellectual disability, Neurodevelopmental disorder and 2 more
PPP2R5D 6 / 65 Complex neurodevelopmental disorder, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 2 more
PRRT2 6 / 65 Epilepsy, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 2 more
SETBP1 6 / 65 Complex neurodevelopmental disorder, Congenital neurologic anomalies, Developmental disability, Intellectual developmental disorder and 2 more
SLC6A1 6 / 65 Developmental and epileptic encephalopathy, Epilepsy, Global developmental delay, Intellectual developmental disorder and 2 more
SMARCA5 6 / 65 Complex neurodevelopmental disorder, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 2 more
SMC1A 6 / 65 Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Epilepsy, Global developmental delay and 2 more
ST3GAL3 6 / 65 Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Intellectual developmental disorder, Intellectual disability and 2 more
TCF4 6 / 65 Developmental disability, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 2 more
TNRC6B 6 / 65 Complex neurodevelopmental disorder, Developmental disability, Global developmental delay, Intellectual disability and 2 more
TRIM8 6 / 65 Developmental and epileptic encephalopathy, Epilepsy, Global developmental delay, Intellectual disability and 2 more
TRMT1 6 / 65 Complex neurodevelopmental disorder, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 2 more
TSC2 6 / 65 Congenital neurologic anomalies, Epilepsy, Intellectual developmental disorder, Intellectual disability and 2 more
UFSP2 6 / 65 Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Epilepsy, Intellectual developmental disorder and 2 more
UPF1 6 / 65 Developmental disorder, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 2 more
WASF1 6 / 65 Developmental and epileptic encephalopathy, Intellectual developmental disorder, Intellectual disability, Neurodevelopmental disorder and 2 more
WWOX 6 / 65 Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Developmental delay, Epilepsy and 2 more
ZNF142 6 / 65 Global developmental delay, Intellectual developmental disorder, Intellectual disability, Neurodevelopmental disorder and 2 more
ACTL6A 5 / 65 Developmental delay, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 1 more
ADGRL1 5 / 65 Complex neurodevelopmental disorder, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
ALDH7A1 5 / 65 Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Epilepsy, Intellectual developmental disorder and 1 more
ALG13 5 / 65 Developmental and epileptic encephalopathy, Epilepsy, Intellectual developmental disorder, Intellectual disability and 1 more
ANK2 5 / 65 Complex neurodevelopmental disorder, Epilepsy, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
AP4S1 5 / 65 Developmental delay, Intellectual developmental disorder, Intellectual disability, Neurodevelopmental disorder and 1 more
ARID1B 5 / 65 Developmental disability, Epilepsy, Global developmental delay, Intellectual developmental disorder and 1 more
ATRX 5 / 65 Congenital neurologic anomalies, Developmental disability, Global developmental delay, Intellectual developmental disorder and 1 more
BLOC1S1 5 / 65 Epilepsy, Global developmental delay, Intellectual disability, Neurodevelopmental disorder and 1 more
BRWD3 5 / 65 Developmental delay, Intellectual developmental disorder, Intellectual disability, Neurodevelopmental disorder and 1 more
CACNA1A 5 / 65 Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder and 1 more
CACNA1B 5 / 65 Developmental and epileptic encephalopathy, Global developmental delay, Intellectual disability, Neurodevelopmental disorder and 1 more
CACNA1E 5 / 65 Developmental and epileptic encephalopathy, Global developmental delay, Intellectual disability, Neurodevelopmental disorder and 1 more
CACNG2 5 / 65 Complex neurodevelopmental disorder, Intellectual developmental disorder, Intellectual developmental disorder, autosomal dominant 10, Neurodevelopmental disorder and 1 more
CAMK2A 5 / 65 Complex neurodevelopmental disorder, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 1 more
CAMK2G 5 / 65 Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 1 more
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 ⇵
Nicotine addiction KEGG 26 / 41 3.6× 8.75e-11 1.04e-8 ✓ sig.
Glutamatergic synapse KEGG 50 / 116 2.4× 1.20e-10 1.37e-8 ✓ sig.
Unblocking of NMDA receptors, glutamate binding and activation Reactome 16 / 22 4.1× 2.07e-8 1.41e-6 ✓ sig.
Dopaminergic synapse KEGG 50 / 132 2.2× 2.34e-8 1.57e-6 ✓ sig.
Cholinergic synapse KEGG 45 / 115 2.2× 3.73e-8 2.37e-6 ✓ sig.
GABAergic synapse KEGG 37 / 89 2.4× 9.60e-8 5.40e-6 ✓ sig.
Amphetamine addiction KEGG 31 / 69 2.6× 1.27e-7 6.90e-6 ✓ sig.
Long-term depression KEGG 28 / 60 2.6× 1.92e-7 9.88e-6 ✓ sig.
Serotonin Neurotransmitter Release Cycle Reactome 13 / 18 4.1× 5.37e-7 2.43e-5 ✓ sig.
Long-term potentiation KEGG 29 / 67 2.5× 8.42e-7 3.58e-5 ✓ sig.
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known Reactome 20 / 38 3.0× 9.81e-7 4.10e-5 ✓ sig.
cAMP signaling pathway KEGG 69 / 226 1.7× 1.17e-6 4.79e-5 ✓ sig.
Glutamate Neurotransmitter Release Cycle Reactome 15 / 24 3.5× 1.22e-6 4.95e-5 ✓ sig.
Circadian entrainment KEGG 37 / 97 2.2× 1.25e-6 5.04e-5 ✓ sig.
Glycosylphosphatidylinositol (GPI)-anchor biosynthesis KEGG 17 / 30 3.2× 1.65e-6 6.44e-5 ✓ sig.

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

GO term ⇵ GO ID ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
nervous system development GO:0007399 207 / 631 2.9× 6.99e-49 1.33e-44 ✓ sig.
chemical synaptic transmission GO:0007268 96 / 236 3.6× 2.28e-31 1.47e-27 ✓ sig.
chromatin organization GO:0006325 135 / 449 2.7× 1.06e-27 4.69e-24 ✓ sig.
brain development GO:0007420 89 / 244 3.2× 4.13e-25 1.30e-21 ✓ sig.
chromatin remodeling GO:0006338 104 / 320 2.9× 1.68e-24 4.79e-21 ✓ sig.
monoatomic ion transmembrane transport GO:0034220 112 / 404 2.4× 4.59e-20 7.37e-17 ✓ sig.
synapse organization GO:0050808 40 / 72 4.9× 7.35e-20 1.15e-16 ✓ sig.
monoatomic ion transport GO:0006811 155 / 667 2.1× 5.03e-19 6.96e-16 ✓ sig.
positive regulation of DNA-templated transcription GO:0045893 166 / 778 1.9× 1.68e-16 1.57e-13 ✓ sig.
neuron migration GO:0001764 51 / 132 3.4× 3.61e-16 3.17e-13 ✓ sig.
cerebral cortex development GO:0021987 40 / 88 4.0× 7.53e-16 6.29e-13 ✓ sig.
axon guidance GO:0007411 62 / 192 2.9× 5.46e-15 3.92e-12 ✓ sig.
neuron projection development GO:0031175 55 / 161 3.0× 1.28e-14 8.62e-12 ✓ sig.
positive regulation of excitatory postsynaptic potential GO:2000463 22 / 32 6.1× 2.87e-14 1.82e-11 ✓ sig.
positive regulation of transcription by RNA polymerase II GO:0045944 221 / 1,208 1.6× 9.35e-14 5.40e-11 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Neurodevelopmental disorder Non-specific syndromic intellectual disability 0.326 338 < 1e-300 < 1e-300 ✓ sig.
Intellectual developmental disorder Neurodevelopmental disorder 0.253 368 1.14e-235 8.67e-234 ✓ sig.
Complex neurodevelopmental disorder Non-specific syndromic intellectual disability 0.283 111 2.02e-163 1.21e-161 ✓ sig.
Global developmental delay Intellectual developmental disorder 0.206 214 3.30e-161 1.95e-159 ✓ sig.
Intellectual disability Neurodevelopmental disorder 0.187 224 9.89e-160 5.78e-158 ✓ sig.
Complex neurodevelopmental disorder Neurodevelopmental disorder 0.123 125 3.44e-139 1.83e-137 ✓ sig.
Global developmental delay Neurodevelopmental disorder 0.172 212 1.10e-137 5.82e-136 ✓ sig.
Intellectual developmental disorder Intellectual disability 0.178 186 3.59e-130 1.84e-128 ✓ sig.
Global developmental delay Intellectual disability 0.190 136 1.04e-111 4.82e-110 ✓ sig.
Intellectual developmental disorder Non-specific syndromic intellectual disability 0.150 154 7.08e-101 2.98e-99 ✓ sig.
Intellectual disability Non-specific syndromic intellectual disability 0.140 96 5.73e-69 1.87e-67 ✓ sig.
Complex neurodevelopmental disorder Intellectual developmental disorder 0.092 80 9.73e-68 3.14e-66 ✓ sig.
Global developmental delay Seizures 0.131 77 2.91e-62 8.90e-61 ✓ sig.
Developmental and epileptic encephalopathy Epilepsy 0.148 65 7.37e-61 2.23e-59 ✓ sig.
Developmental disability Neurodevelopmental disorder 0.077 82 6.84e-60 2.05e-58 ✓ sig.
Intellectual disability Seizures 0.126 72 1.57e-57 4.59e-56 ✓ sig.
Congenital neurologic anomalies Intellectual developmental disorder 0.079 68 3.26e-57 9.45e-56 ✓ sig.
Global developmental delay Non-specific syndromic intellectual disability 0.121 87 3.29e-56 9.47e-55 ✓ sig.
Developmental disability Intellectual developmental disorder 0.080 71 1.78e-52 4.90e-51 ✓ sig.
Epilepsy Intellectual developmental disorder 0.094 94 6.65e-52 1.82e-50 ✓ sig.
Epilepsy Seizures 0.115 52 4.68e-43 1.14e-41 ✓ sig.
Developmental and epileptic encephalopathy Global developmental delay 0.097 59 5.47e-40 1.29e-38 ✓ sig.
Developmental disability Global developmental delay 0.088 47 1.49e-37 3.36e-36 ✓ sig.
Intellectual developmental disorder Seizures 0.073 71 1.04e-35 2.28e-34 ✓ sig.
Developmental and epileptic encephalopathy Seizures 0.100 42 8.22e-34 1.75e-32 ✓ sig.
Developmental disorder Neurodevelopmental disorder 0.045 47 1.82e-32 3.78e-31 ✓ sig.
Congenital neurologic anomalies Global developmental delay 0.076 39 6.80e-32 1.39e-30 ✓ sig.
Complex neurodevelopmental disorder Developmental and epileptic encephalopathy 0.099 33 3.45e-31 6.92e-30 ✓ sig.
Developmental disorder Non-specific syndromic intellectual disability 0.065 28 3.43e-24 5.72e-23 ✓ sig.
Developmental delay Epilepsy 0.067 22 6.53e-21 9.86e-20 ✓ sig.
Developmental and epileptic encephalopathy Developmental disability 0.068 24 1.03e-18 1.44e-17 ✓ sig.
Complex neurodevelopmental disorder Developmental disability 0.069 18 2.95e-16 3.77e-15 ✓ sig.
Developmental and epileptic encephalopathy Developmental delay 0.058 17 1.39e-15 1.72e-14 ✓ sig.
Complex neurodevelopmental disorder Developmental disorder 0.052 11 2.76e-10 2.50e-9 ✓ sig.
Developmental disorder Global developmental delay 0.029 15 2.47e-8 1.87e-7 ✓ sig.
Developmental disorder Intellectual disability 0.029 14 9.12e-8 6.39e-7 ✓ sig.
Neurodevelopmental disorder with brain abnormalities Non-specific syndromic intellectual disability 0.008 3 1.33e-5 7.10e-5 ✓ sig.
Neurodevelopmental disorder Neurodevelopmental disorder with brain abnormalities 0.003 3 2.73e-4 5.70e-4 ✓ sig.
Developmental delay Developmental delay with variable neurological abnormalities 0.013 1 5.04e-3 6.03e-3 ✓ sig.
Developmental delay Macrocephaly, neurodevelopmental delay, and seizures 0.013 1 5.04e-3 6.03e-3 ✓ sig.
Developmental disorder Intellectual developmental disorder, autosomal dominant 64 0.011 1 5.75e-3 6.78e-3 ✓ sig.
Developmental disorder Intellectual developmental disorder, autosomal dominant 65 0.011 1 5.75e-3 6.78e-3 ✓ sig.
Developmental disorder Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly 0.011 1 5.75e-3 6.78e-3 ✓ sig.
Developmental disorder Neurodevelopmental disorder with eye movement abnormalities and ataxia 0.011 1 5.75e-3 6.78e-3 ✓ sig.
Developmental disorder Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 0.011 1 5.75e-3 6.78e-3 ✓ sig.
Congenital neurologic anomalies Fucosidosis 0.009 1 7.43e-3 8.57e-3 ✓ sig.
Congenital neurologic anomalies Neurodevelopmental disorder with hypotonia, seizures, and absent language 0.009 1 7.43e-3 8.57e-3 ✓ sig.
1q44 microdeletion syndrome Complex neurodevelopmental disorder 0.007 1 8.65e-3 9.79e-3 ✓ sig.
Complex neurodevelopmental disorder Epileptic encephalopathy, early infantile, 33 0.007 1 8.65e-3 9.79e-3 ✓ sig.
Complex neurodevelopmental disorder Intellectual developmental disorder, autosomal dominant 10 0.007 1 8.65e-3 9.79e-3 ✓ sig.
Complex neurodevelopmental disorder Intellectual developmental disorder, autosomal dominant 64 0.007 1 8.65e-3 9.79e-3 ✓ sig.
Complex neurodevelopmental disorder Macrocephaly, neurodevelopmental delay, and seizures 0.007 1 8.65e-3 9.79e-3 ✓ sig.
Complex neurodevelopmental disorder Mental retardation, autosomal recessive 68 0.007 1 8.65e-3 9.79e-3 ✓ sig.
Complex neurodevelopmental disorder Neurodevelopmental disorder with congenital anomalies 0.007 1 8.65e-3 9.79e-3 ✓ sig.
Complex neurodevelopmental disorder Neurodevelopmental disorder with hypotonia, seizures, and absent language 0.007 1 8.65e-3 9.79e-3 ✓ sig.
Complex neurodevelopmental disorder Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 0.007 1 8.65e-3 9.79e-3 ✓ sig.
Complex neurodevelopmental disorder Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 0.007 1 8.65e-3 9.79e-3 ✓ sig.
Complex neurodevelopmental disorder Neurodevelopmental disorder with white matter abnormalities and gait disturbance 0.007 1 8.65e-3 9.79e-3 ✓ sig.
Complex neurodevelopmental disorder Usmani-riazuddin syndrome 0.007 1 8.65e-3 9.79e-3 ✓ sig.
Developmental disability Epileptic encephalopathy, early infantile, 33 0.007 1 9.23e-3 1.04e-2 ✓ sig.
Developmental disability Epileptic encephalopathy, early infantile, 68 0.007 1 9.23e-3 1.04e-2 ✓ sig.
Developmental disability Intellectual developmental disorder, autosomal dominant 65 0.007 1 9.23e-3 1.04e-2 ✓ sig.
Developmental disability Neurodevelopmental disorder with hypotonia, seizures, and absent language 0.007 1 9.23e-3 1.04e-2 ✓ sig.
Fucosidosis Seizures 0.004 1 1.49e-2 1.63e-2 ✓ sig.
Jaberi-elahi syndrome Seizures 0.004 1 1.49e-2 1.63e-2 ✓ sig.
1q44 microdeletion syndrome Developmental and epileptic encephalopathy 0.004 1 1.49e-2 1.63e-2 ✓ sig.
Developmental and epileptic encephalopathy Dworschak-punetha neurodevelopmental syndrome 0.004 1 1.49e-2 1.63e-2 ✓ sig.
Developmental and epileptic encephalopathy Epileptic encephalopathy, early infantile, 33 0.004 1 1.49e-2 1.63e-2 ✓ sig.
Developmental and epileptic encephalopathy Epileptic encephalopathy, early infantile, 68 0.004 1 1.49e-2 1.63e-2 ✓ sig.
Developmental and epileptic encephalopathy Macrocephaly/megalencephaly syndrome, autosomal recessive 0.004 1 1.49e-2 1.63e-2 ✓ sig.
Developmental and epileptic encephalopathy Neurodevelopmental disorder with absent language and variable seizures 0.004 1 1.49e-2 1.63e-2 ✓ sig.
Developmental and epileptic encephalopathy Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities 0.004 1 1.49e-2 1.63e-2 ✓ sig.
1q44 microdeletion syndrome Epilepsy 0.004 1 1.76e-2 1.90e-2 ✓ sig.
Epilepsy Usmani-riazuddin syndrome 0.004 1 1.76e-2 1.90e-2 ✓ sig.
1q44 microdeletion syndrome Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Cardiofacio-neurodevelopmental syndrome Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Developmental delay with variable neurological abnormalities Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Dworschak-punetha neurodevelopmental syndrome Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Intellectual developmental disorder, autosomal dominant 10 Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Intellectual developmental disorder, autosomal dominant 64 Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Intellectual developmental disorder, autosomal dominant 73 Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Mental retardation, autosomal recessive 68 Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Neurodevelopmental disorder with absent language and variable seizures Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Neurodevelopmental disorder with congenital anomalies Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Neurodevelopmental disorder with dysmorphic facies and variable seizures Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Neurodevelopmental disorder with hypotonia, seizures, and absent language Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Neurodevelopmental disorder with or without brain abnormalities Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Neurodevelopmental disorder with speech and motor delay and spasticity Non-specific syndromic intellectual disability 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Non-specific syndromic intellectual disability Usmani-riazuddin syndrome 0.003 1 2.38e-2 2.53e-2 ✓ sig.
Developmental delay with variable neurological abnormalities Intellectual disability 0.002 1 2.67e-2 2.82e-2 ✓ sig.
Fucosidosis Intellectual disability 0.002 1 2.67e-2 2.82e-2 ✓ sig.
Intellectual disability Jaberi-elahi syndrome 0.002 1 2.67e-2 2.82e-2 ✓ sig.
Intellectual disability Mental retardation, autosomal recessive 68 0.002 1 2.67e-2 2.82e-2 ✓ sig.
Intellectual disability Neurodevelopmental disorder with absent language and variable seizures 0.002 1 2.67e-2 2.82e-2 ✓ sig.
Intellectual disability Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 0.002 1 2.67e-2 2.82e-2 ✓ sig.
Intellectual disability Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities 0.002 1 2.67e-2 2.82e-2 ✓ sig.
Intellectual disability Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 0.002 1 2.67e-2 2.82e-2 ✓ sig.
Intellectual disability Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 0.002 1 2.67e-2 2.82e-2 ✓ sig.
Intellectual disability Usmani-riazuddin syndrome 0.002 1 2.67e-2 2.82e-2 ✓ sig.
Global developmental delay Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0.002 1 2.82e-2 2.96e-2 ✓ sig.
Global developmental delay Jaberi-elahi syndrome 0.002 1 2.82e-2 2.96e-2 ✓ sig.
Global developmental delay Mental retardation, autosomal recessive 68 0.002 1 2.82e-2 2.96e-2 ✓ sig.
Global developmental delay Neurodevelopmental disorder with dysmorphic facies and variable seizures 0.002 1 2.82e-2 2.96e-2 ✓ sig.
Global developmental delay Suleiman-el-hattab syndrome 0.002 1 2.82e-2 2.96e-2 ✓ sig.
Aspartylglucosaminuria Intellectual developmental disorder 0.001 1 5.26e-2 5.42e-2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 Intellectual developmental disorder 0.001 1 5.26e-2 5.42e-2
Intellectual developmental disorder Intellectual developmental disorder, autosomal dominant 10 0.001 1 5.26e-2 5.42e-2
Intellectual developmental disorder Intellectual developmental disorder, autosomal dominant 73 0.001 1 5.26e-2 5.42e-2
Intellectual developmental disorder Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly 0.001 1 5.26e-2 5.42e-2
Intellectual developmental disorder Li-takada-miyake syndrome 0.001 1 5.26e-2 5.42e-2
Intellectual developmental disorder Macrocephaly, neurodevelopmental delay, and seizures 0.001 1 5.26e-2 5.42e-2
Intellectual developmental disorder Mental retardation, autosomal recessive 68 0.001 1 5.26e-2 5.42e-2
Intellectual developmental disorder Neurodevelopmental disorder with absent language and variable seizures 0.001 1 5.26e-2 5.42e-2
Intellectual developmental disorder Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly 0.001 1 5.26e-2 5.42e-2
Intellectual developmental disorder Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities 0.001 1 5.26e-2 5.42e-2
Intellectual developmental disorder Neurodevelopmental disorder with dysmorphic facies and variable seizures 0.001 1 5.26e-2 5.42e-2
Intellectual developmental disorder Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 0.001 1 5.26e-2 5.42e-2
Aspartylglucosaminuria Neurodevelopmental disorder 0.001 1 6.50e-2 6.62e-2
Cardiofacio-neurodevelopmental syndrome Neurodevelopmental disorder 0.001 1 6.50e-2 6.62e-2
Developmental delay with variable neurological abnormalities Neurodevelopmental disorder 0.001 1 6.50e-2 6.62e-2
Dworschak-punetha neurodevelopmental syndrome Neurodevelopmental disorder 0.001 1 6.50e-2 6.62e-2
Intellectual developmental disorder, autosomal dominant 10 Neurodevelopmental disorder 0.001 1 6.50e-2 6.62e-2
Intellectual developmental disorder, autosomal dominant 73 Neurodevelopmental disorder 0.001 1 6.50e-2 6.62e-2
Kaya-barakat-masson syndrome Neurodevelopmental disorder 0.001 1 6.50e-2 6.62e-2
Li-takada-miyake syndrome Neurodevelopmental disorder 0.001 1 6.50e-2 6.62e-2
Macrocephaly, neurodevelopmental delay, and seizures Neurodevelopmental disorder 0.001 1 6.50e-2 6.62e-2
Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities Neurodevelopmental disorder 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with absent language and variable seizures 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with dysmorphic facies and variable seizures 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with hypotonia, seizures, and absent language 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with or without brain abnormalities 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with speech and motor delay and spasticity 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with speech delay and variable ocular anomalies 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Neurodevelopmental disorder with white matter abnormalities and gait disturbance 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Suleiman-el-hattab syndrome 0.001 1 6.50e-2 6.62e-2
Neurodevelopmental disorder Usmani-riazuddin syndrome 0.001 1 6.50e-2 6.62e-2