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Cluster 17

21 diseases · 61 shared-gene connections
21 Diseases
71 Unique genes
0.116 Avg. similarity score
Short-rib thoracic dysplasia Most-connected disease (17 links)
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Disease Searched: NIK deficiency 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)

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

Gene ⇵ Member diseases ⇵ Linked diseases
NEK1 7 / 21 amyotrophic lateral sclerosis, susceptibility to, 24, Jeune syndrome, Jeune thoracic dystrophy, Majewski syndrome and 3 more
WDR35 7 / 21 Craniodiaphyseal dysplasia, Jeune syndrome, Jeune thoracic dystrophy, Majewski syndrome and 3 more
DYNC2H1 6 / 21 Jeune syndrome, Jeune thoracic dystrophy, Majewski syndrome, Saldino-noonan syndrome and 2 more
DYNC2I1 6 / 21 Jeune syndrome, Jeune thoracic dystrophy, Saldino-noonan syndrome, Short rib dysplasia-polydactyly syndrome and 2 more
DYNC2I2 6 / 21 Jeune syndrome, Jeune thoracic dystrophy, Saldino-noonan syndrome, Short rib dysplasia-polydactyly syndrome and 2 more
DYNLT2B 6 / 21 Jeune syndrome, Jeune thoracic dystrophy, Saldino-noonan syndrome, Short rib dysplasia-polydactyly syndrome and 2 more
IFT52 6 / 21 Craniodiaphyseal dysplasia, Jeune syndrome, Jeune thoracic dystrophy, Short rib dysplasia-polydactyly syndrome and 2 more
TTC21B 6 / 21 Jeune syndrome, Jeune thoracic dystrophy, Majewski syndrome, nephronophthisis 12 and 2 more
DYNC2LI1 5 / 21 Jeune syndrome, Jeune thoracic dystrophy, Majewski syndrome, Short rib dysplasia-polydactyly syndrome and 1 more
IFT140 5 / 21 Craniodiaphyseal dysplasia, Jeune syndrome, Jeune thoracic dystrophy, Short rib dysplasia-polydactyly syndrome and 1 more
IFT172 5 / 21 Jeune syndrome, Jeune thoracic dystrophy, Majewski syndrome, Short rib dysplasia-polydactyly syndrome and 1 more
IFT80 5 / 21 Jeune syndrome, Jeune thoracic dystrophy, Majewski syndrome, Short rib dysplasia-polydactyly syndrome and 1 more
INTU 5 / 21 INTU-related skeletal ciliopathy, Jeune syndrome, Jeune thoracic dystrophy, Short rib dysplasia-polydactyly syndrome and 1 more
WDR19 5 / 21 Craniodiaphyseal dysplasia, Jeune syndrome, Jeune thoracic dystrophy, Short rib dysplasia-polydactyly syndrome and 1 more
CEP120 4 / 21 Jeune syndrome, Jeune thoracic dystrophy, Short rib dysplasia-polydactyly syndrome, Short-rib thoracic dysplasia
IFT43 4 / 21 Craniodiaphyseal dysplasia, Jeune thoracic dystrophy, Short rib dysplasia-polydactyly syndrome, Short-rib thoracic dysplasia
IFT81 4 / 21 Jeune thoracic dystrophy, Short rib dysplasia-polydactyly syndrome, Short-rib thoracic dysplasia, short-rib thoracic dysplasia 19 with or without polydactyly
KIAA0586 4 / 21 Jeune syndrome, Jeune thoracic dystrophy, Short rib dysplasia-polydactyly syndrome, Short-rib thoracic dysplasia
KIAA0753 4 / 21 Jeune syndrome, Jeune thoracic dystrophy, Short rib dysplasia-polydactyly syndrome, Short-rib thoracic dysplasia
EVC2 3 / 21 Jeune thoracic dystrophy, Majewski syndrome, Short rib dysplasia-polydactyly syndrome
SPTAN1 3 / 21 Developmental delay with or without epilepsy, Jeune thoracic dystrophy, Short-rib thoracic dysplasia
TRAF3IP1 3 / 21 Jeune thoracic dystrophy, Majewski syndrome, Short rib dysplasia-polydactyly syndrome
BBS10 2 / 21 BBS10-related ciliopathy, Saldino-noonan syndrome
CILK1 2 / 21 Craniodiaphyseal dysplasia, Short rib dysplasia-polydactyly syndrome
FGF4 2 / 21 Short-rib thoracic dysplasia, Thoracic malformation
FLVCR1 2 / 21 Jeune thoracic dystrophy, Short rib dysplasia-polydactyly syndrome
FUZ 2 / 21 Jeune thoracic dystrophy, Majewski syndrome
GRK2 2 / 21 Jeune syndrome, Jeune thoracic dystrophy
IFT122 2 / 21 Craniodiaphyseal dysplasia, Short rib dysplasia-polydactyly syndrome
IFT74 2 / 21 Jeune thoracic dystrophy, Majewski syndrome
MAP3K14 2 / 21 Jeune syndrome, NIK deficiency
PSEN2 2 / 21 dilated cardiomyopathy 1V, Jeune 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 ⇵
Endometrial cancer KEGG 36 / 59 2.0× 1.50e-6 6.93e-5 ✓ sig.
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Reactome 19 / 26 2.4× 1.10e-5 3.69e-4 ✓ sig.
Homologous recombination KEGG 26 / 41 2.1× 1.61e-5 5.08e-4 ✓ sig.
Homologous DNA Pairing and Strand Exchange Reactome 18 / 25 2.3× 2.64e-5 7.66e-4 ✓ sig.
EGFR tyrosine kinase inhibitor resistance KEGG 42 / 80 1.7× 4.09e-5 1.10e-3 ✓ sig.
Prostate cancer KEGG 49 / 98 1.6× 5.20e-5 1.34e-3 ✓ sig.
MET activates PTK2 signaling Reactome 20 / 30 2.2× 5.47e-5 1.39e-3 ✓ sig.
Bladder cancer KEGG 25 / 41 2.0× 6.13e-5 1.52e-3 ✓ sig.
p53-Dependent G1 DNA Damage Response Reactome 7 / 7 3.2× 2.61e-4 4.87e-3 ✓ sig.
Melanoma KEGG 37 / 73 1.6× 2.94e-4 5.35e-3 ✓ sig.
Non-small cell lung cancer KEGG 37 / 73 1.6× 2.94e-4 5.35e-3 ✓ sig.
Colorectal cancer KEGG 42 / 87 1.6× 4.56e-4 7.59e-3 ✓ sig.
RUNX3 regulates p14-ARF Reactome 8 / 9 2.9× 5.26e-4 8.45e-3 ✓ sig.
Gastric cancer KEGG 65 / 150 1.4× 7.47e-4 1.11e-2 ✓ sig.
Pancreatic cancer KEGG 37 / 77 1.6× 1.08e-3 1.48e-2 ✓ 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 ⇵
positive regulation of transcription by RNA polymerase II GO:0045944 378 / 1,208 1.6× 5.92e-23 1.43e-19 ✓ sig.
positive regulation of DNA-templated transcription GO:0045893 239 / 778 1.6× 8.44e-14 4.62e-11 ✓ sig.
negative regulation of transcription by RNA polymerase II GO:0000122 277 / 1,002 1.4× 4.37e-10 1.04e-7 ✓ sig.
negative regulation of DNA-templated transcription GO:0045892 188 / 631 1.5× 6.73e-10 1.52e-7 ✓ sig.
stem cell proliferation GO:0072089 31 / 54 2.9× 1.19e-9 2.55e-7 ✓ sig.
odontogenesis of dentin-containing tooth GO:0042475 30 / 56 2.7× 1.99e-8 3.07e-6 ✓ sig.
axon guidance GO:0007411 70 / 192 1.8× 5.04e-8 6.85e-6 ✓ sig.
positive regulation of miRNA transcription GO:1902895 29 / 56 2.6× 9.18e-8 1.14e-5 ✓ sig.
DNA damage response GO:0006974 166 / 577 1.5× 9.43e-8 1.16e-5 ✓ sig.
embryonic organ development GO:0048568 24 / 42 2.9× 1.01e-7 1.23e-5 ✓ sig.
heart development GO:0007507 90 / 273 1.7× 1.66e-7 1.88e-5 ✓ sig.
regulation of gene expression GO:0010468 122 / 402 1.5× 2.28e-7 2.47e-5 ✓ sig.
cell-cell adhesion GO:0098609 75 / 218 1.7× 2.64e-7 2.77e-5 ✓ sig.
inner ear morphogenesis GO:0042472 31 / 65 2.4× 3.71e-7 3.68e-5 ✓ sig.
regulation of transcription by RNA polymerase II GO:0006357 394 / 1,602 1.2× 4.85e-7 4.62e-5 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Jeune thoracic dystrophy Short rib dysplasia-polydactyly syndrome 0.611 22 4.57e-61 2.83e-59 ✓ sig.
Short rib dysplasia-polydactyly syndrome Short-rib thoracic dysplasia 0.655 19 1.27e-54 7.12e-53 ✓ sig.
Jeune thoracic dystrophy Short-rib thoracic dysplasia 0.541 20 4.44e-54 2.47e-52 ✓ sig.
Jeune syndrome Short-rib thoracic dysplasia 0.347 17 5.94e-41 2.55e-39 ✓ sig.
Jeune syndrome Short rib dysplasia-polydactyly syndrome 0.340 17 2.03e-40 8.61e-39 ✓ sig.
Jeune syndrome Jeune thoracic dystrophy 0.310 18 9.80e-40 4.06e-38 ✓ sig.
Jeune thoracic dystrophy Majewski syndrome 0.314 11 8.05e-30 2.44e-28 ✓ sig.
Majewski syndrome Short rib dysplasia-polydactyly syndrome 0.321 9 2.14e-24 5.03e-23 ✓ sig.
Craniodiaphyseal dysplasia Short rib dysplasia-polydactyly syndrome 0.250 7 1.02e-18 1.81e-17 ✓ sig.
Majewski syndrome Short-rib thoracic dysplasia 0.241 7 4.75e-18 8.20e-17 ✓ sig.
Jeune syndrome Majewski syndrome 0.146 7 5.20e-16 7.90e-15 ✓ sig.
Craniodiaphyseal dysplasia Short-rib thoracic dysplasia 0.172 5 1.17e-12 1.41e-11 ✓ sig.
Saldino-noonan syndrome Short-rib thoracic dysplasia 0.172 5 1.17e-12 1.41e-11 ✓ sig.
Saldino-noonan syndrome Short rib dysplasia-polydactyly syndrome 0.167 5 1.48e-12 1.76e-11 ✓ sig.
Jeune thoracic dystrophy Saldino-noonan syndrome 0.128 5 8.23e-12 9.10e-11 ✓ sig.
Craniodiaphyseal dysplasia Jeune thoracic dystrophy 0.128 5 8.23e-12 9.10e-11 ✓ sig.
Jeune syndrome Saldino-noonan syndrome 0.104 5 2.94e-11 3.09e-10 ✓ sig.
Majewski syndrome Saldino-noonan syndrome 0.095 2 2.50e-5 1.17e-4 ✓ sig.
Saldino-noonan syndrome short-rib thoracic dysplasia 11 with or without polydactyly 0.091 1 6.49e-4 1.24e-3 ✓ sig.
Craniodiaphyseal dysplasia short-rib thoracic dysplasia 16 with or without polydactyly 0.091 1 6.49e-4 1.24e-3 ✓ sig.
Saldino-noonan syndrome short-rib thoracic dysplasia 17 with or without polydactyly 0.091 1 6.49e-4 1.24e-3 ✓ sig.
Craniodiaphyseal dysplasia short-rib thoracic dysplasia 7 with or without polydactyly 0.091 1 6.49e-4 1.24e-3 ✓ sig.
BBS10-related ciliopathy Saldino-noonan syndrome 0.091 1 6.49e-4 1.24e-3 ✓ sig.
Saldino-noonan syndrome short-rib thoracic dysplasia 8 with or without polydactyly 0.091 1 6.49e-4 1.24e-3 ✓ sig.
amyotrophic lateral sclerosis, susceptibility to, 24 Saldino-noonan syndrome 0.091 1 6.49e-4 1.24e-3 ✓ sig.
amyotrophic lateral sclerosis, susceptibility to, 24 Majewski syndrome 0.077 1 7.79e-4 1.40e-3 ✓ sig.
Majewski syndrome short-rib thoracic dysplasia 7 with or without polydactyly 0.077 1 7.79e-4 1.40e-3 ✓ sig.
Majewski syndrome nephronophthisis 12 0.077 1 7.79e-4 1.40e-3 ✓ sig.
Short-rib thoracic dysplasia Thoracic malformation 0.042 1 1.49e-3 2.31e-3 ✓ sig.
Short-rib thoracic dysplasia short-rib thoracic dysplasia 19 with or without polydactyly 0.042 1 1.49e-3 2.31e-3 ✓ sig.
nephronophthisis 12 Short-rib thoracic dysplasia 0.042 1 1.49e-3 2.31e-3 ✓ sig.
Developmental delay with or without epilepsy Short-rib thoracic dysplasia 0.042 1 1.49e-3 2.31e-3 ✓ sig.
INTU-related skeletal ciliopathy Short-rib thoracic dysplasia 0.042 1 1.49e-3 2.31e-3 ✓ sig.
Short-rib thoracic dysplasia short-rib thoracic dysplasia 11 with or without polydactyly 0.042 1 1.49e-3 2.31e-3 ✓ sig.
Short-rib thoracic dysplasia short-rib thoracic dysplasia 17 with or without polydactyly 0.042 1 1.49e-3 2.31e-3 ✓ sig.
Short-rib thoracic dysplasia short-rib thoracic dysplasia 8 with or without polydactyly 0.042 1 1.49e-3 2.31e-3 ✓ sig.
amyotrophic lateral sclerosis, susceptibility to, 24 Short-rib thoracic dysplasia 0.042 1 1.49e-3 2.31e-3 ✓ sig.
Short-rib thoracic dysplasia short-rib thoracic dysplasia 16 with or without polydactyly 0.042 1 1.49e-3 2.31e-3 ✓ sig.
Short-rib thoracic dysplasia short-rib thoracic dysplasia 7 with or without polydactyly 0.042 1 1.49e-3 2.31e-3 ✓ sig.
Short rib dysplasia-polydactyly syndrome short-rib thoracic dysplasia 19 with or without polydactyly 0.040 1 1.56e-3 2.38e-3 ✓ sig.
Short rib dysplasia-polydactyly syndrome short-rib thoracic dysplasia 17 with or without polydactyly 0.040 1 1.56e-3 2.38e-3 ✓ sig.
nephronophthisis 12 Short rib dysplasia-polydactyly syndrome 0.040 1 1.56e-3 2.38e-3 ✓ sig.
amyotrophic lateral sclerosis, susceptibility to, 24 Short rib dysplasia-polydactyly syndrome 0.040 1 1.56e-3 2.38e-3 ✓ sig.
Short rib dysplasia-polydactyly syndrome short-rib thoracic dysplasia 16 with or without polydactyly 0.040 1 1.56e-3 2.38e-3 ✓ sig.
Short rib dysplasia-polydactyly syndrome short-rib thoracic dysplasia 7 with or without polydactyly 0.040 1 1.56e-3 2.38e-3 ✓ sig.
Short rib dysplasia-polydactyly syndrome short-rib thoracic dysplasia 11 with or without polydactyly 0.040 1 1.56e-3 2.38e-3 ✓ sig.
INTU-related skeletal ciliopathy Short rib dysplasia-polydactyly syndrome 0.040 1 1.56e-3 2.38e-3 ✓ sig.
Short rib dysplasia-polydactyly syndrome short-rib thoracic dysplasia 8 with or without polydactyly 0.040 1 1.56e-3 2.38e-3 ✓ sig.
Jeune thoracic dystrophy short-rib thoracic dysplasia 19 with or without polydactyly 0.029 1 2.14e-3 3.04e-3 ✓ sig.
Jeune thoracic dystrophy short-rib thoracic dysplasia 8 with or without polydactyly 0.029 1 2.14e-3 3.04e-3 ✓ sig.
Developmental delay with or without epilepsy Jeune thoracic dystrophy 0.029 1 2.14e-3 3.04e-3 ✓ sig.
Jeune thoracic dystrophy short-rib thoracic dysplasia 17 with or without polydactyly 0.029 1 2.14e-3 3.04e-3 ✓ sig.
Jeune thoracic dystrophy short-rib thoracic dysplasia 16 with or without polydactyly 0.029 1 2.14e-3 3.04e-3 ✓ sig.
Jeune thoracic dystrophy short-rib thoracic dysplasia 11 with or without polydactyly 0.029 1 2.14e-3 3.04e-3 ✓ sig.
INTU-related skeletal ciliopathy Jeune thoracic dystrophy 0.029 1 2.14e-3 3.04e-3 ✓ sig.
Jeune thoracic dystrophy nephronophthisis 12 0.029 1 2.14e-3 3.04e-3 ✓ sig.
Jeune syndrome short-rib thoracic dysplasia 17 with or without polydactyly 0.023 1 2.73e-3 3.66e-3 ✓ sig.
Jeune syndrome short-rib thoracic dysplasia 16 with or without polydactyly 0.023 1 2.73e-3 3.66e-3 ✓ sig.
dilated cardiomyopathy 1V Jeune syndrome 0.023 1 2.73e-3 3.66e-3 ✓ sig.
Jeune syndrome short-rib thoracic dysplasia 11 with or without polydactyly 0.023 1 2.73e-3 3.66e-3 ✓ sig.
Jeune syndrome NIK deficiency 0.023 1 2.73e-3 3.66e-3 ✓ sig.