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Cluster 240

7 diseases · 9 shared-gene connections
7 Diseases
542 Unique genes
0.039 Avg. similarity score
Corneal astigmatism Most-connected disease (5 links)
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Disease Searched: neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 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 ‐ top 100 shown, download for all)

Gene ⇵ Member diseases ⇵ Linked diseases
ADAMTS8 3 / 7 Corneal astigmatism, Glaucoma, Open angle glaucoma
ANGPT1 3 / 7 Corneal astigmatism, Glaucoma, Open angle glaucoma
BICC1 3 / 7 Corneal astigmatism, Glaucoma, Open angle glaucoma
BNC2 3 / 7 Corneal astigmatism, Glaucoma, Open angle glaucoma
FMNL2 3 / 7 Corneal astigmatism, Glaucoma, Open angle glaucoma
HERC2 3 / 7 Corneal astigmatism, Glaucoma, Open angle glaucoma
LMO7 3 / 7 Corneal astigmatism, Glaucoma, Open angle glaucoma
MADD 3 / 7 Corneal astigmatism, Deeah syndrome, Open angle glaucoma
TNR 3 / 7 Corneal astigmatism, neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, Open angle glaucoma
VAV2 3 / 7 Corneal astigmatism, Glaucoma, Open angle glaucoma
ABCA1 2 / 7 Glaucoma, Open angle glaucoma
ABO 2 / 7 Glaucoma, Open angle glaucoma
ACOXL 2 / 7 Glaucoma, Open angle glaucoma
ADGRB2 2 / 7 Glaucoma, Open angle glaucoma
ADRB2 2 / 7 Glaucoma, Open angle glaucoma
AFAP1 2 / 7 Glaucoma, Open angle glaucoma
ALDH9A1 2 / 7 Glaucoma, Open angle glaucoma
ANKH 2 / 7 Glaucoma, Open angle glaucoma
ANTXR1 2 / 7 Glaucoma, Open angle glaucoma
APOE 2 / 7 Glaucoma, Open angle glaucoma
AREL1 2 / 7 Glaucoma, Open angle glaucoma
ARHGEF12 2 / 7 Glaucoma, Open angle glaucoma
ARHGEF3 2 / 7 Glaucoma, Open angle glaucoma
ASB10 2 / 7 Glaucoma, obsolete glaucoma 1, open angle, F
ASB7 2 / 7 Glaucoma, Open angle glaucoma
ATXN2 2 / 7 Glaucoma, Open angle glaucoma
BCAS3 2 / 7 Glaucoma, Open angle glaucoma
BMPER 2 / 7 Corneal astigmatism, Diaphanospondylodysostosis
C14ORF39 2 / 7 Glaucoma, Open angle glaucoma
CADM2 2 / 7 Glaucoma, Open angle glaucoma
CALN1 2 / 7 Corneal astigmatism, Open angle glaucoma
CAV1 2 / 7 Glaucoma, Open angle glaucoma
CAV2 2 / 7 Glaucoma, Open angle glaucoma
CDH11 2 / 7 Glaucoma, Open angle glaucoma
CDKN2B 2 / 7 Glaucoma, Open angle glaucoma
CHEK2 2 / 7 Glaucoma, Open angle glaucoma
CLIC5 2 / 7 Glaucoma, Open angle glaucoma
CNBD1 2 / 7 Glaucoma, Open angle glaucoma
COL11A1 2 / 7 Glaucoma, Open angle glaucoma
COL16A1 2 / 7 Glaucoma, Open angle glaucoma
COL24A1 2 / 7 Glaucoma, Open angle glaucoma
COL8A1 2 / 7 Glaucoma, Open angle glaucoma
CSNK2A2IP 2 / 7 Glaucoma, Open angle glaucoma
CTTNBP2 2 / 7 Glaucoma, Open angle glaucoma
CYP1B1 2 / 7 Glaucoma, Open angle glaucoma
DGKG 2 / 7 Glaucoma, Open angle glaucoma
DUSP1 2 / 7 Glaucoma, Open angle glaucoma
EFEMP1 2 / 7 Glaucoma, Open angle glaucoma
ETS1 2 / 7 Glaucoma, Open angle glaucoma
EXOC2 2 / 7 Glaucoma, Open angle glaucoma
EYA2 2 / 7 Glaucoma, Open angle glaucoma
FBXO32 2 / 7 Glaucoma, Open angle glaucoma
FERMT2 2 / 7 Glaucoma, Open angle glaucoma
FLI1 2 / 7 Corneal astigmatism, Open angle glaucoma
FLNB 2 / 7 Glaucoma, Open angle glaucoma
FNDC3B 2 / 7 Glaucoma, Open angle glaucoma
GAS7 2 / 7 Glaucoma, Open angle glaucoma
GLIS3 2 / 7 Glaucoma, Open angle glaucoma
GMDS 2 / 7 Glaucoma, Open angle glaucoma
GNB1L 2 / 7 Glaucoma, Open angle glaucoma
GPM6B 2 / 7 Glaucoma, Open angle glaucoma
H1-0 2 / 7 Glaucoma, Open angle glaucoma
HNRNPA1L3 2 / 7 Glaucoma, Open angle glaucoma
HSPA12A 2 / 7 Glaucoma, Open angle glaucoma
KALRN 2 / 7 Glaucoma, Open angle glaucoma
KIAA1549L 2 / 7 Glaucoma, Open angle glaucoma
LMX1B 2 / 7 Glaucoma, Open angle glaucoma
LOXL1 2 / 7 Glaucoma, Open angle glaucoma
LPP 2 / 7 Glaucoma, Open angle glaucoma
LSM8 2 / 7 Glaucoma, Open angle glaucoma
LTBP1 2 / 7 Glaucoma, Open angle glaucoma
LTBP2 2 / 7 Glaucoma, Open angle glaucoma
LTBP3 2 / 7 Glaucoma, Open angle glaucoma
ME3 2 / 7 Glaucoma, Open angle glaucoma
MECOM 2 / 7 Glaucoma, Open angle glaucoma
MTUS1 2 / 7 Glaucoma, Open angle glaucoma
MYO16 2 / 7 Glaucoma, Open angle glaucoma
MYOC 2 / 7 Glaucoma, Open angle glaucoma
MYOCOS 2 / 7 Glaucoma, Open angle glaucoma
NPEPPS 2 / 7 Glaucoma, Open angle glaucoma
OPTN 2 / 7 Glaucoma, Open angle glaucoma
OTUD7B 2 / 7 Glaucoma, Open angle glaucoma
PDE7B 2 / 7 Glaucoma, Open angle glaucoma
PDZD2 2 / 7 Glaucoma, Open angle glaucoma
PKHD1 2 / 7 Glaucoma, Open angle glaucoma
PLCE1 2 / 7 Glaucoma, Open angle glaucoma
PLEKHA7 2 / 7 Glaucoma, Open angle glaucoma
PNPT1 2 / 7 Glaucoma, Open angle glaucoma
PON1 2 / 7 Glaucoma, Open angle glaucoma
POU6F2 2 / 7 Glaucoma, Open angle glaucoma
PRDM16 2 / 7 Glaucoma, Open angle glaucoma
PRICKLE2 2 / 7 Glaucoma, Open angle glaucoma
PRKAG2 2 / 7 Glaucoma, Open angle glaucoma
PRSS23 2 / 7 Glaucoma, Open angle glaucoma
PTBP1 2 / 7 Glaucoma, Open angle glaucoma
RAMP2 2 / 7 Glaucoma, Open angle glaucoma
RAPSN 2 / 7 Glaucoma, Open angle glaucoma
RARB 2 / 7 Glaucoma, Open angle glaucoma
RFLNA 2 / 7 Glaucoma, Open angle glaucoma
RFX4 2 / 7 Glaucoma, Open angle glaucoma
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 ⇵
Defective B3GALTL causes Peters-plus syndrome (PpS) Reactome 10 / 37 6.0× 3.73e-6 1.61e-4 ✓ sig.
O-glycosylation of TSR domain-containing proteins Reactome 10 / 38 5.8× 4.86e-6 1.98e-4 ✓ sig.
Proteoglycans in cancer KEGG 23 / 204 2.5× 4.77e-5 1.29e-3 ✓ sig.
Pre-NOTCH Transcription and Translation Reactome 8 / 31 5.7× 5.13e-5 1.37e-3 ✓ sig.
Pathways in cancer KEGG 44 / 533 1.8× 7.49e-5 1.84e-3 ✓ sig.
Collagen chain trimerization Reactome 9 / 44 4.5× 1.25e-4 2.77e-3 ✓ sig.
Focal adhesion KEGG 21 / 203 2.3× 3.37e-4 6.06e-3 ✓ sig.
Assembly of collagen fibrils and other multimeric structures Reactome 9 / 51 3.9× 4.05e-4 7.02e-3 ✓ sig.
Gastric cancer KEGG 17 / 150 2.5× 4.26e-4 7.32e-3 ✓ sig.
Prostate cancer KEGG 13 / 98 2.9× 4.43e-4 7.55e-3 ✓ sig.
Molecules associated with elastic fibres Reactome 7 / 38 4.1× 1.37e-3 1.78e-2 ✓ sig.
Effects of PIP2 hydrolysis Reactome 5 / 20 5.5× 1.62e-3 2.03e-2 ✓ sig.
Hepatocellular carcinoma KEGG 17 / 170 2.2× 1.75e-3 2.15e-2 ✓ sig.
PI3K-Akt signaling pathway KEGG 29 / 361 1.8× 1.89e-3 2.27e-2 ✓ sig.
Basal cell carcinoma KEGG 9 / 63 3.2× 1.95e-3 2.33e-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 75 / 1,208 2.1× 3.00e-10 7.75e-8 ✓ sig.
angiogenesis GO:0001525 28 / 284 3.4× 1.81e-8 2.87e-6 ✓ sig.
skeletal system development GO:0001501 18 / 151 4.1× 4.05e-7 4.01e-5 ✓ sig.
positive regulation of multicellular organismal process GO:0051240 9 / 35 8.9× 4.90e-7 4.71e-5 ✓ sig.
negative regulation of fat cell differentiation GO:0045599 11 / 57 6.7× 6.08e-7 5.63e-5 ✓ sig.
Tie signaling pathway GO:0048014 4 / 4 34.5× 7.00e-7 6.33e-5 ✓ sig.
positive regulation of DNA-templated transcription GO:0045893 48 / 778 2.1× 7.37e-7 6.60e-5 ✓ sig.
negative regulation of cell population proliferation GO:0008285 33 / 444 2.6× 8.40e-7 7.35e-5 ✓ sig.
cell adhesion GO:0007155 43 / 665 2.2× 8.41e-7 7.36e-5 ✓ sig.
extracellular matrix organization GO:0030198 17 / 145 4.0× 1.07e-6 8.97e-5 ✓ sig.
positive regulation of ERK1 and ERK2 cascade GO:0070374 20 / 201 3.4× 1.72e-6 1.32e-4 ✓ sig.
positive regulation of gene expression GO:0010628 35 / 504 2.4× 1.87e-6 1.41e-4 ✓ sig.
negative regulation of chondrocyte differentiation GO:0032331 7 / 23 10.5× 2.72e-6 1.90e-4 ✓ sig.
regulation of cell differentiation GO:0045595 10 / 54 6.4× 2.94e-6 2.02e-4 ✓ sig.
kidney development GO:0001822 16 / 146 3.8× 5.40e-6 3.30e-4 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Glaucoma Open angle glaucoma 0.243 118 1.41e-132 2.24e-130 ✓ sig.
Corneal astigmatism Open angle glaucoma 0.033 14 1.13e-9 1.01e-8 ✓ sig.
Corneal astigmatism Glaucoma 0.027 8 1.18e-5 5.76e-5 ✓ sig.
Corneal astigmatism Deeah syndrome 0.014 1 4.61e-3 5.73e-3 ✓ sig.
Corneal astigmatism Diaphanospondylodysostosis 0.014 1 4.61e-3 5.73e-3 ✓ sig.
Corneal astigmatism neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 0.014 1 4.61e-3 5.73e-3 ✓ sig.
Glaucoma obsolete glaucoma 1, open angle, F 0.004 1 1.52e-2 1.68e-2 ✓ sig.
Deeah syndrome Open angle glaucoma 0.003 1 2.40e-2 2.58e-2 ✓ sig.
neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus Open angle glaucoma 0.003 1 2.40e-2 2.58e-2 ✓ sig.