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Cluster 6

36 diseases · 78 shared-gene connections
36 Diseases
1,741 Unique genes
0.040 Avg. similarity score
Neurodevelopmental disorder Most-connected disease (18 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.
Neurodevelopmental disorder Intellectual developmental disorder Non-specific syndromic intellectual disability Global developmental delay complex neurodevelopmental disorder Developmental disability

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

Disease ⇵ Connections in cluster ⇵ Significant partners ⇵ Curated genes ⇵
Neurodevelopmental disorder 18 6 938
Intellectual developmental disorder 17 8 809
Non-specific syndromic intellectual disability 16 16 368
Global developmental delay 15 15 370
complex neurodevelopmental disorder 10 10 118
Developmental disability 8 8 143
Developmental and epileptic encephalopathy 6 6 220
Intellectual disability 5 5 76
Congenital neurologic anomalies 4 4 115
Nonsyndromic intellectual disability 4 4 141
Intellectual developmental disorder dysmorphic 4 3 1
neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 4 3 1
Clark-baraitser syndrome 4 2 1
1q44 microdeletion syndrome 3 3 1
Usmani-riazuddin syndrome 3 2 1
basilicata-akhtar syndrome 3 2 1
glutamate pyruvate transaminase 2 deficiency 3 1 1
neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia 3 1 1
Buratti-harel syndrome 2 2 2
Brainstem dysplasia 2 1 1
Dworschak-punetha neurodevelopmental syndrome 2 1 1
Intellectual developmental disorder dysmorphic ocular 2 1 1
Intellectual developmental disorder peripheral neuropathy 2 1 1
hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2 1 1
neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 2 1 1
aspartylglucosaminuria 2 0 1
Al kaissi syndrome 1 1 1
Al-raqad syndrome 1 1 1
Growth retardation, impaired intellectual development, hypotonia, and hepatopathy 1 1 1
Intellectual developmental disorder behavioral short stature 1 1 1
Otofacial neurodevelopmental syndrome 1 1 1
developmental and epileptic encephalopathy, 55 1 1 1
fucosidosis 1 1 1
NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability 1 0 1
kaya-barakat-masson syndrome 1 0 1
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 1 0 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
GRIN2B 9 / 36 complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Developmental disability, Global developmental delay and 5 more
SCN8A 9 / 36 complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Developmental disability, Global developmental delay and 5 more
EEF1A2 8 / 36 complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Developmental disability, Global developmental delay and 4 more
KCNQ2 8 / 36 complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Developmental disability, Global developmental delay and 4 more
SYNGAP1 8 / 36 complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Developmental disability, Global developmental delay and 4 more
MBD5 7 / 36 complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder and 3 more
PURA 7 / 36 complex neurodevelopmental disorder, Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Global developmental delay and 3 more
SCN2A 7 / 36 complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Developmental disability, Global developmental delay and 3 more
ST3GAL3 7 / 36 complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Intellectual developmental disorder, Intellectual disability and 3 more
STXBP1 7 / 36 Developmental and epileptic encephalopathy, Developmental disability, Global developmental delay, Intellectual developmental disorder and 3 more
CAMK2B 6 / 36 Congenital neurologic anomalies, Developmental disability, Global developmental delay, Intellectual developmental disorder and 2 more
CASK 6 / 36 Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Developmental disability, Global developmental delay and 2 more
CTNNB1 6 / 36 Congenital neurologic anomalies, Developmental disability, Global developmental delay, Intellectual developmental disorder and 2 more
CYFIP2 6 / 36 complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder and 2 more
DYRK1A 6 / 36 complex neurodevelopmental disorder, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 2 more
FOXG1 6 / 36 Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder and 2 more
GRIN1 6 / 36 complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Intellectual developmental disorder, Neurodevelopmental disorder and 2 more
GRIN2A 6 / 36 complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder and 2 more
HNRNPU 6 / 36 1q44 microdeletion syndrome, complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Intellectual developmental disorder and 2 more
KCNQ3 6 / 36 complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Intellectual developmental disorder, Intellectual disability and 2 more
MECP2 6 / 36 Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Developmental disability, Global developmental delay and 2 more
NALCN 6 / 36 Congenital neurologic anomalies, Developmental disability, Global developmental delay, Intellectual developmental disorder and 2 more
NBEA 6 / 36 complex neurodevelopmental disorder, Developmental disability, Intellectual developmental disorder, Neurodevelopmental disorder and 2 more
NRXN1 6 / 36 complex neurodevelopmental disorder, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 2 more
POU3F3 6 / 36 complex neurodevelopmental disorder, Developmental disability, Intellectual developmental disorder, Intellectual developmental disorder dysmorphic and 2 more
PTEN 6 / 36 Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Developmental disability, Global developmental delay and 2 more
SETBP1 6 / 36 complex neurodevelopmental disorder, Congenital neurologic anomalies, Developmental disability, Intellectual developmental disorder and 2 more
TCF4 6 / 36 Developmental disability, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 2 more
ZNF292 6 / 36 complex neurodevelopmental disorder, Intellectual developmental disorder, Intellectual disability, Neurodevelopmental disorder and 2 more
ADGRL1 5 / 36 complex neurodevelopmental disorder, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
AGO1 5 / 36 complex neurodevelopmental disorder, Intellectual developmental disorder, Intellectual disability, Neurodevelopmental disorder and 1 more
ANKRD11 5 / 36 Congenital neurologic anomalies, Developmental disability, Global developmental delay, Intellectual developmental disorder and 1 more
ARF3 5 / 36 Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder, Non-specific syndromic intellectual disability and 1 more
ATP6V0A1 5 / 36 Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
ATRX 5 / 36 Congenital neurologic anomalies, Developmental disability, Global developmental delay, Intellectual developmental disorder and 1 more
BRSK2 5 / 36 complex neurodevelopmental disorder, Intellectual developmental disorder, Neurodevelopmental disorder, Non-specific syndromic intellectual disability and 1 more
CACNA1A 5 / 36 Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder and 1 more
CACNG2 5 / 36 complex neurodevelopmental disorder, Intellectual developmental disorder, Neurodevelopmental disorder, Non-specific syndromic intellectual disability and 1 more
CAMK2A 5 / 36 complex neurodevelopmental disorder, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
CAMK2G 5 / 36 Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 1 more
CC2D1A 5 / 36 complex neurodevelopmental disorder, Intellectual developmental disorder, Neurodevelopmental disorder, Non-specific syndromic intellectual disability and 1 more
CDKL5 5 / 36 Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder and 1 more
CHAMP1 5 / 36 complex neurodevelopmental disorder, Intellectual developmental disorder, Neurodevelopmental disorder, Non-specific syndromic intellectual disability and 1 more
CHD2 5 / 36 complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
CHD8 5 / 36 complex neurodevelopmental disorder, Developmental disability, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
CIC 5 / 36 complex neurodevelopmental disorder, Intellectual developmental disorder, Neurodevelopmental disorder, Non-specific syndromic intellectual disability and 1 more
CLTC 5 / 36 Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
CNTNAP2 5 / 36 complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
DEAF1 5 / 36 Developmental disability, Intellectual developmental disorder, Neurodevelopmental disorder, Non-specific syndromic intellectual disability and 1 more
DOCK8 5 / 36 Developmental disability, Intellectual developmental disorder, Neurodevelopmental disorder, Non-specific syndromic intellectual disability and 1 more
DYNC1H1 5 / 36 Congenital neurologic anomalies, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
EPB41L1 5 / 36 complex neurodevelopmental disorder, Intellectual developmental disorder, Neurodevelopmental disorder, Non-specific syndromic intellectual disability and 1 more
FLNA 5 / 36 Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 1 more
GABBR2 5 / 36 complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
GABRB2 5 / 36 complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
GRIA1 5 / 36 complex neurodevelopmental disorder, Intellectual developmental disorder, Neurodevelopmental disorder, Non-specific syndromic intellectual disability and 1 more
GRIA3 5 / 36 Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 1 more
GRIK2 5 / 36 complex neurodevelopmental disorder, Intellectual developmental disorder, Neurodevelopmental disorder, Non-specific syndromic intellectual disability and 1 more
GRM7 5 / 36 Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
HECW2 5 / 36 complex neurodevelopmental disorder, Congenital neurologic anomalies, Developmental disability, Neurodevelopmental disorder and 1 more
IQSEC2 5 / 36 Developmental and epileptic encephalopathy, Intellectual developmental disorder, Intellectual disability, Neurodevelopmental disorder and 1 more
JARID2 5 / 36 Intellectual developmental disorder, Intellectual disability, Neurodevelopmental disorder, Non-specific syndromic intellectual disability and 1 more
KCNA2 5 / 36 Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
KCNB1 5 / 36 complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
KDM5B 5 / 36 Developmental disability, Intellectual developmental disorder, intellectual disability, Neurodevelopmental disorder and 1 more
KIRREL3 5 / 36 Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder, Non-specific syndromic intellectual disability and 1 more
KMT2E 5 / 36 complex neurodevelopmental disorder, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
KMT5B 5 / 36 complex neurodevelopmental disorder, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
LINS1 5 / 36 complex neurodevelopmental disorder, Intellectual developmental disorder, Neurodevelopmental disorder, Non-specific syndromic intellectual disability and 1 more
MAPK8IP3 5 / 36 Developmental disability, Global developmental delay, Neurodevelopmental disorder, neurodevelopmental disorder with or without variable brain abnormalities; NEDBA and 1 more
MBOAT7 5 / 36 complex neurodevelopmental disorder, Intellectual developmental disorder, Neurodevelopmental disorder, Non-specific syndromic intellectual disability and 1 more
MED12L 5 / 36 Developmental disability, Intellectual developmental disorder, Neurodevelopmental disorder, Non-specific syndromic intellectual disability and 1 more
MEF2C 5 / 36 complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
NAA15 5 / 36 Developmental disability, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
NCKAP1 5 / 36 complex neurodevelopmental disorder, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
NOVA2 5 / 36 complex neurodevelopmental disorder, Intellectual developmental disorder, Intellectual disability, Neurodevelopmental disorder and 1 more
PIGA 5 / 36 complex neurodevelopmental disorder, Developmental and epileptic encephalopathy, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
PNKP 5 / 36 Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Developmental disability, Global developmental delay and 1 more
PPP2R5C 5 / 36 complex neurodevelopmental disorder, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
PPP2R5D 5 / 36 complex neurodevelopmental disorder, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
SCN1A 5 / 36 Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 1 more
SETD5 5 / 36 Developmental disability, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
SHANK2 5 / 36 complex neurodevelopmental disorder, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
SLC6A1 5 / 36 Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
SMARCA5 5 / 36 complex neurodevelopmental disorder, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
SMC1A 5 / 36 Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder and 1 more
SNAP25 5 / 36 Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder, Intellectual disability and 1 more
STAG1 5 / 36 complex neurodevelopmental disorder, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
TAOK1 5 / 36 Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder, Non-specific syndromic intellectual disability and 1 more
TBC1D24 5 / 36 Congenital neurologic anomalies, Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder and 1 more
TNRC6B 5 / 36 complex neurodevelopmental disorder, Developmental disability, Global developmental delay, Neurodevelopmental disorder and 1 more
TRIP12 5 / 36 Clark-baraitser syndrome, complex neurodevelopmental disorder, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
TRPM3 5 / 36 Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder and 1 more
TUSC3 5 / 36 Congenital neurologic anomalies, Intellectual developmental disorder, intellectual disability, Neurodevelopmental disorder and 1 more
UBE3A 5 / 36 Developmental and epileptic encephalopathy, Developmental disability, Global developmental delay, Intellectual developmental disorder and 1 more
ACTL6B 4 / 36 Developmental and epileptic encephalopathy, Global developmental delay, Intellectual developmental disorder, Non-specific syndromic intellectual disability
ADNP 4 / 36 Developmental disability, Global developmental delay, Intellectual developmental disorder, Neurodevelopmental disorder
ANK2 4 / 36 complex neurodevelopmental disorder, Intellectual developmental disorder, Neurodevelopmental disorder, Non-specific syndromic intellectual disability
ANK3 4 / 36 Congenital neurologic anomalies, Intellectual developmental disorder, intellectual disability, Non-specific syndromic intellectual disability
AP1G1 4 / 36 complex neurodevelopmental disorder, Neurodevelopmental disorder, Non-specific syndromic intellectual disability, Usmani-riazuddin syndrome
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 24 / 41 4.0× 7.96e-11 1.18e-8 ✓ sig.
Unblocking of NMDA receptors, glutamate binding and activation Reactome 16 / 22 5.0× 1.12e-9 1.24e-7 ✓ sig.
Glutamatergic synapse KEGG 43 / 116 2.6× 1.29e-9 1.39e-7 ✓ sig.
GABAergic synapse KEGG 35 / 89 2.7× 7.35e-9 6.70e-7 ✓ sig.
Dopaminergic synapse KEGG 44 / 132 2.3× 3.53e-8 2.63e-6 ✓ sig.
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known Reactome 20 / 38 3.6× 3.67e-8 2.72e-6 ✓ sig.
Long-term potentiation KEGG 27 / 67 2.8× 2.10e-7 1.25e-5 ✓ sig.
Thyroid hormone signaling pathway KEGG 40 / 122 2.3× 2.41e-7 1.41e-5 ✓ sig.
Serotonin Neurotransmitter Release Cycle Reactome 12 / 18 4.6× 6.58e-7 3.39e-5 ✓ sig.
Interaction between L1 and Ankyrins Reactome 10 / 13 5.3× 7.52e-7 3.81e-5 ✓ sig.
Long-term depression KEGG 24 / 60 2.8× 1.16e-6 5.55e-5 ✓ sig.
Amphetamine addiction KEGG 26 / 69 2.6× 1.63e-6 7.40e-5 ✓ sig.
Circadian entrainment KEGG 32 / 97 2.3× 3.25e-6 1.33e-4 ✓ sig.
Dopamine Neurotransmitter Release Cycle Reactome 13 / 23 3.9× 3.29e-6 1.34e-4 ✓ sig.
Phase 0 - rapid depolarisation Reactome 19 / 44 3.0× 3.90e-6 1.55e-4 ✓ 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 177 / 631 3.0× 3.61e-43 5.05e-39 ✓ sig.
chromatin organization GO:0006325 124 / 449 3.0× 1.25e-29 6.33e-26 ✓ sig.
chromatin remodeling GO:0006338 96 / 320 3.2× 4.16e-26 1.47e-22 ✓ sig.
brain development GO:0007420 73 / 244 3.2× 4.61e-20 7.63e-17 ✓ sig.
positive regulation of DNA-templated transcription GO:0045893 147 / 778 2.0× 2.84e-17 3.04e-14 ✓ sig.
monoatomic ion transmembrane transport GO:0034220 94 / 404 2.5× 3.35e-17 3.54e-14 ✓ sig.
synapse organization GO:0050808 33 / 72 4.9× 6.74e-16 5.46e-13 ✓ sig.
chemical synaptic transmission GO:0007268 64 / 236 2.9× 1.93e-15 1.44e-12 ✓ sig.
monoatomic ion transport GO:0006811 126 / 667 2.0× 6.19e-15 4.15e-12 ✓ sig.
axon guidance GO:0007411 55 / 192 3.1× 1.49e-14 9.36e-12 ✓ sig.
cerebral cortex development GO:0021987 34 / 88 4.1× 1.20e-13 6.53e-11 ✓ sig.
neuron migration GO:0001764 42 / 132 3.4× 3.97e-13 1.96e-10 ✓ sig.
cognition GO:0050890 27 / 64 4.5× 3.39e-12 1.38e-9 ✓ sig.
tRNA aminoacylation for protein translation GO:0006418 20 / 36 6.0× 3.70e-12 1.49e-9 ✓ sig.
positive regulation of transcription by RNA polymerase II GO:0045944 182 / 1,208 1.6× 2.22e-11 7.47e-9 ✓ 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 0.342 333 < 1e-300 < 1e-300 ✓ sig.
Intellectual developmental disorder Neurodevelopmental disorder 0.254 354 2.71e-231 1.62e-228 ✓ sig.
complex neurodevelopmental disorder Non-specific syndromic intellectual disability 0.275 105 2.96e-161 6.46e-159 ✓ sig.
Global developmental delay Intellectual developmental disorder 0.193 191 1.60e-148 3.03e-146 ✓ sig.
complex neurodevelopmental disorder Neurodevelopmental disorder 0.120 113 8.38e-133 1.42e-130 ✓ sig.
Intellectual developmental disorder Non-specific syndromic intellectual disability 0.150 154 5.10e-101 6.14e-99 ✓ sig.
Global developmental delay Neurodevelopmental disorder 0.138 159 3.59e-96 3.92e-94 ✓ sig.
Intellectual developmental disorder Nonsyndromic intellectual disability 0.105 90 3.83e-80 3.20e-78 ✓ sig.
complex neurodevelopmental disorder Intellectual developmental disorder 0.093 79 7.71e-73 6.03e-71 ✓ sig.
Developmental disability Neurodevelopmental disorder 0.082 82 3.58e-62 2.40e-60 ✓ sig.
Intellectual developmental disorder Intellectual disability 0.069 57 2.57e-57 1.58e-55 ✓ sig.
Congenital neurologic anomalies Intellectual developmental disorder 0.078 67 8.02e-56 4.86e-54 ✓ sig.
Developmental disability Intellectual developmental disorder 0.081 71 1.57e-52 9.02e-51 ✓ sig.
Developmental and epileptic encephalopathy Global developmental delay 0.099 53 3.77e-38 1.58e-36 ✓ sig.
Congenital neurologic anomalies Global developmental delay 0.087 39 1.40e-34 5.27e-33 ✓ sig.
Developmental disability Global developmental delay 0.089 42 3.17e-34 1.18e-32 ✓ sig.
Global developmental delay Non-specific syndromic intellectual disability 0.090 61 6.75e-34 2.49e-32 ✓ sig.
complex neurodevelopmental disorder Nonsyndromic intellectual disability 0.111 26 4.25e-29 1.33e-27 ✓ sig.
complex neurodevelopmental disorder Developmental and epileptic encephalopathy 0.094 29 5.07e-28 1.52e-26 ✓ sig.
Global developmental delay Intellectual disability 0.067 28 2.89e-26 7.93e-25 ✓ sig.
Developmental and epileptic encephalopathy Non-specific syndromic intellectual disability 0.075 41 4.76e-25 1.23e-23 ✓ sig.
Developmental and epileptic encephalopathy Developmental disability 0.067 23 5.71e-18 1.04e-16 ✓ sig.
Intellectual disability Nonsyndromic intellectual disability 0.079 16 6.95e-18 1.25e-16 ✓ sig.
complex neurodevelopmental disorder Developmental disability 0.074 18 3.16e-17 5.51e-16 ✓ sig.
Congenital neurologic anomalies Intellectual disability 0.061 11 9.44e-12 1.10e-10 ✓ sig.
Buratti-harel syndrome Neurodevelopmental disorder 0.002 2 3.71e-3 4.74e-3 ✓ sig.
glutamate pyruvate transaminase 2 deficiency Intellectual disability 0.013 1 4.94e-3 6.05e-3 ✓ sig.
Congenital neurologic anomalies fucosidosis 0.009 1 7.47e-3 8.76e-3 ✓ sig.
1q44 microdeletion syndrome complex neurodevelopmental disorder 0.008 1 7.66e-3 8.96e-3 ✓ sig.
complex neurodevelopmental disorder Intellectual developmental disorder dysmorphic 0.008 1 7.66e-3 8.96e-3 ✓ sig.
Clark-baraitser syndrome complex neurodevelopmental disorder 0.008 1 7.66e-3 8.96e-3 ✓ sig.
complex neurodevelopmental disorder Usmani-riazuddin syndrome 0.008 1 7.66e-3 8.96e-3 ✓ sig.
Al-raqad syndrome Nonsyndromic intellectual disability 0.007 1 9.16e-3 1.05e-2 ✓ sig.
Developmental disability neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0.007 1 9.29e-3 1.06e-2 ✓ sig.
Developmental disability Intellectual developmental disorder dysmorphic 0.007 1 9.29e-3 1.06e-2 ✓ sig.
basilicata-akhtar syndrome Developmental disability 0.007 1 9.29e-3 1.06e-2 ✓ sig.
1q44 microdeletion syndrome Developmental and epileptic encephalopathy 0.005 1 1.43e-2 1.59e-2 ✓ sig.
Developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 55 0.005 1 1.43e-2 1.59e-2 ✓ sig.
Dworschak-punetha neurodevelopmental syndrome Non-specific syndromic intellectual disability 0.003 1 2.39e-2 2.57e-2 ✓ sig.
Non-specific syndromic intellectual disability Usmani-riazuddin syndrome 0.003 1 2.39e-2 2.57e-2 ✓ sig.
1q44 microdeletion syndrome Non-specific syndromic intellectual disability 0.003 1 2.39e-2 2.57e-2 ✓ sig.
neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia Non-specific syndromic intellectual disability 0.003 1 2.39e-2 2.57e-2 ✓ sig.
neurodevelopmental disorder with or without variable brain abnormalities; NEDBA Non-specific syndromic intellectual disability 0.003 1 2.39e-2 2.57e-2 ✓ sig.
Clark-baraitser syndrome Non-specific syndromic intellectual disability 0.003 1 2.39e-2 2.57e-2 ✓ sig.
Intellectual developmental disorder behavioral short stature Non-specific syndromic intellectual disability 0.003 1 2.39e-2 2.57e-2 ✓ sig.
neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy Non-specific syndromic intellectual disability 0.003 1 2.39e-2 2.57e-2 ✓ sig.
Intellectual developmental disorder dysmorphic Non-specific syndromic intellectual disability 0.003 1 2.39e-2 2.57e-2 ✓ sig.
Intellectual developmental disorder peripheral neuropathy Non-specific syndromic intellectual disability 0.003 1 2.39e-2 2.57e-2 ✓ sig.
Brainstem dysplasia Global developmental delay 0.003 1 2.40e-2 2.58e-2 ✓ sig.
Global developmental delay Otofacial neurodevelopmental syndrome 0.003 1 2.40e-2 2.58e-2 ✓ sig.
Al kaissi syndrome Global developmental delay 0.003 1 2.40e-2 2.58e-2 ✓ sig.
Global developmental delay neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0.003 1 2.40e-2 2.58e-2 ✓ sig.
basilicata-akhtar syndrome Global developmental delay 0.003 1 2.40e-2 2.58e-2 ✓ sig.
Global developmental delay Intellectual developmental disorder dysmorphic ocular 0.003 1 2.40e-2 2.58e-2 ✓ sig.
Global developmental delay Growth retardation, impaired intellectual development, hypotonia, and hepatopathy 0.003 1 2.40e-2 2.58e-2 ✓ sig.
Global developmental delay hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0.003 1 2.40e-2 2.58e-2 ✓ sig.
Buratti-harel syndrome Non-specific syndromic intellectual disability 0.003 1 4.72e-2 4.91e-2 ✓ sig.
Intellectual developmental disorder Intellectual developmental disorder dysmorphic ocular 0.001 1 5.25e-2 5.42e-2
Intellectual developmental disorder Intellectual developmental disorder dysmorphic 0.001 1 5.25e-2 5.42e-2
Intellectual developmental disorder Intellectual developmental disorder peripheral neuropathy 0.001 1 5.25e-2 5.42e-2
basilicata-akhtar syndrome Intellectual developmental disorder 0.001 1 5.25e-2 5.42e-2
glutamate pyruvate transaminase 2 deficiency Intellectual developmental disorder 0.001 1 5.25e-2 5.42e-2
Intellectual developmental disorder neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia 0.001 1 5.25e-2 5.42e-2
aspartylglucosaminuria Intellectual developmental disorder 0.001 1 5.25e-2 5.42e-2
Clark-baraitser syndrome Intellectual developmental disorder 0.001 1 5.25e-2 5.42e-2
hypotonia, infantile, with psychomotor retardation and characteristic facies 2 Intellectual developmental disorder 0.001 1 5.25e-2 5.42e-2
Neurodevelopmental disorder Usmani-riazuddin syndrome 0.001 1 6.09e-2 6.25e-2
glutamate pyruvate transaminase 2 deficiency Neurodevelopmental disorder 0.001 1 6.09e-2 6.25e-2
Neurodevelopmental disorder neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia 0.001 1 6.09e-2 6.25e-2
Neurodevelopmental disorder neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0.001 1 6.09e-2 6.25e-2
Clark-baraitser syndrome Neurodevelopmental disorder 0.001 1 6.09e-2 6.25e-2
Neurodevelopmental disorder neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 0.001 1 6.09e-2 6.25e-2
Neurodevelopmental disorder neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 0.001 1 6.09e-2 6.25e-2
aspartylglucosaminuria Neurodevelopmental disorder 0.001 1 6.09e-2 6.25e-2
NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability Neurodevelopmental disorder 0.001 1 6.09e-2 6.25e-2
kaya-barakat-masson syndrome Neurodevelopmental disorder 0.001 1 6.09e-2 6.25e-2
Brainstem dysplasia Neurodevelopmental disorder 0.001 1 6.09e-2 6.25e-2
Dworschak-punetha neurodevelopmental syndrome Neurodevelopmental disorder 0.001 1 6.09e-2 6.25e-2