Disease Clusters?

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

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Cluster 51

16 diseases · 52 shared-gene connections
16 Diseases
223 Unique genes
0.138 Avg. similarity score
Nuclear cataract Most-connected disease (13 links)
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Disease Pinned (dragged)
Node size = connections within this cluster · edge thickness = similarity strength · hover an edge for its details · click a node to select it and show its pairs below (double-click or Ctrl/⌘-click opens the disease page) · drag a node to pin it in place · scroll/pinch to zoom.

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

Disease ⇵ Connections in cluster ⇵ Significant partners ⇵ Curated genes ⇵
Nuclear cataract 13 13 18
Congenital cataract 12 12 60
Lamellar cataract 10 10 11
Congenital total cataract 9 9 16
Cataract 8 8 201
Cataract-microcornea syndrome 7 7 9
Posterior subcapsular cataract 7 7 11
Sutural cataract 7 7 6
Posterior polar cataract 6 6 8
Anterior polar cataract 4 4 4
Congenital cataract facial dysmorphism neuropathy syndrome 4 4 2
Congenital lamellar cataract 4 4 2
Coralliform cataract 4 4 1
nance-horan syndrome 4 4 1
Non-syndromic cataract 3 3 3
Congenital cataract severe neonatal hepatopathy developmental delay syndrome 2 2 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
MIP 8 / 16 Cataract, Congenital cataract, Congenital total cataract, Lamellar cataract and 4 more
CRYAA 7 / 16 Anterior polar cataract, Cataract, Cataract-microcornea syndrome, Congenital cataract and 3 more
CRYBA1 7 / 16 Cataract, Congenital cataract, Lamellar cataract, Nuclear cataract and 3 more
CRYBB2 7 / 16 Cataract, Cataract-microcornea syndrome, Congenital cataract, Congenital total cataract and 3 more
EPHA2 7 / 16 Cataract, Congenital cataract, Congenital total cataract, Non-syndromic cataract and 3 more
CRYAB 6 / 16 Cataract, Congenital cataract, Lamellar cataract, Nuclear cataract and 2 more
CRYGD 6 / 16 Cataract, Cataract-microcornea syndrome, Congenital cataract, Coralliform cataract and 2 more
GJA3 6 / 16 Cataract, Congenital cataract, Congenital cataract facial dysmorphism neuropathy syndrome, Nuclear cataract and 2 more
GJA8 6 / 16 Cataract, Cataract-microcornea syndrome, Congenital cataract, Congenital total cataract and 2 more
BFSP2 5 / 16 Cataract, Congenital cataract, Lamellar cataract, Non-syndromic cataract and 1 more
CRYBB3 5 / 16 Anterior polar cataract, Cataract, Congenital cataract, Non-syndromic cataract and 1 more
CRYGB 5 / 16 Anterior polar cataract, Cataract, Congenital cataract, Congenital total cataract and 1 more
CRYGC 5 / 16 Cataract, Cataract-microcornea syndrome, Congenital cataract, Lamellar cataract and 1 more
HSF4 5 / 16 Cataract, Congenital cataract, Congenital lamellar cataract, Congenital total cataract and 1 more
NHS 5 / 16 Cataract, Cataract-microcornea syndrome, Congenital cataract, nance-horan syndrome and 1 more
CHMP4B 4 / 16 Cataract, Congenital cataract, Posterior polar cataract, Posterior subcapsular cataract
CRYBA2 4 / 16 Anterior polar cataract, Cataract, Congenital cataract, Nuclear cataract
CRYBA4 4 / 16 Cataract, Cataract-microcornea syndrome, Congenital cataract, Lamellar cataract
CRYBB1 4 / 16 Cataract, Cataract-microcornea syndrome, Congenital cataract, Nuclear cataract
CRYGS 4 / 16 Cataract, Congenital cataract, Lamellar cataract, Sutural cataract
FYCO1 4 / 16 Cataract, Congenital cataract, Congenital total cataract, Nuclear cataract
LEMD2 4 / 16 Cataract, Congenital cataract, Congenital total cataract, Posterior subcapsular cataract
PITX3 4 / 16 Cataract, Congenital cataract, Posterior polar cataract, Posterior subcapsular cataract
UNC45B 4 / 16 Cataract, Congenital cataract, Nuclear cataract, Posterior subcapsular cataract
AGK 3 / 16 Cataract, Congenital cataract, Congenital total cataract
BFSP1 3 / 16 Cataract, Congenital cataract, Nuclear cataract
CYP51A1 3 / 16 Cataract, Congenital cataract, Congenital cataract severe neonatal hepatopathy developmental delay syndrome
GCNT2 3 / 16 Cataract, Congenital cataract, Congenital total cataract
LIM2 3 / 16 Cataract, Congenital cataract, Congenital total cataract
LSS 3 / 16 Cataract, Congenital cataract, Congenital total cataract
MAF 3 / 16 Cataract, Cataract-microcornea syndrome, Congenital cataract
PANK4 3 / 16 Cataract, Posterior polar cataract, Posterior subcapsular cataract
PGRMC1 3 / 16 Cataract, Congenital cataract, Congenital total cataract
SIPA1L3 3 / 16 Cataract, Congenital cataract, Congenital total cataract
WFS1 3 / 16 Cataract, Congenital cataract, Nuclear cataract
DNMBP 2 / 16 Cataract, Congenital total cataract
FOXE3 2 / 16 Cataract, Congenital cataract
IARS2 2 / 16 Cataract, Congenital cataract
PAX6 2 / 16 Cataract, Congenital cataract
SLC16A12 2 / 16 Cataract, Congenital cataract
TDRD7 2 / 16 Cataract, Congenital cataract
VIM 2 / 16 Cataract, Congenital cataract
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 ⇵
EPHA-mediated growth cone collapse
EFNA3, EFNA5, EPHA2, EPHA4
 Reactome 4 / 20 10.8× 4.44e-4 7.26e-3 ✓ sig.
EPH-Ephrin signaling
EFNA3, EFNA5, EPHA2, EPHA4
 Reactome 4 / 22 9.8× 6.51e-4 9.79e-3 ✓ sig.
Collagen chain trimerization
COL18A1, COL2A1, COL5A1, COL12A1, COL4A1
 Reactome 5 / 44 6.1× 1.27e-3 1.62e-2 ✓ sig.
Extracellular matrix organization
COL2A1, COL5A1, COL4A1
 Reactome 3 / 15 10.8× 2.44e-3 2.64e-2 ✓ sig.
Assembly of collagen fibrils and other multimeric structures
COL18A1, COL2A1, COL5A1, COL12A1, COL4A1
 Reactome 5 / 51 5.3× 2.47e-3 2.68e-2 ✓ sig.
Collagen degradation
COL18A1, COL2A1, COL5A1, COL12A1, COL4A1
 Reactome 5 / 52 5.2× 2.70e-3 2.85e-2 ✓ sig.
Protein digestion and absorption
ATP1B1, COL18A1, COL2A1, COL5A1, SLC7A8, COL12A1, COL4A1
 KEGG 7 / 103 3.7× 3.04e-3 3.10e-2 ✓ sig.
Melanin biosynthesis
OCA2, TYR
 Reactome 2 / 5 21.5× 3.31e-3 3.30e-2 ✓ sig.
Protein processing in endoplasmic reticulum
CRYAA, CRYAB, HSPA1A, HSPA1L, KRTCAP2, NPLOC4, SIL1, WFS1, ERO1B
 KEGG 9 / 171 2.8× 4.63e-3 4.17e-2 ✓ sig.
HSF1-dependent transactivation
CRYAB, HSPA1A, HSPA1L
 Reactome 3 / 19 8.5× 4.91e-3 4.34e-2 ✓ sig.
Cholesterol biosynthesis
CYP51A1, MVK, LSS
 Reactome 3 / 21 7.7× 6.56e-3 5.24e-2
NCAM1 interactions
COL2A1, COL5A1, COL4A1
 Reactome 3 / 21 7.7× 6.56e-3 5.24e-2
Signaling by Retinoic Acid
CPT1A, PPARD, RARB
 Reactome 3 / 21 7.7× 6.56e-3 5.24e-2
FGFR3b ligand binding and activation
FGF18, FGFR3
 Reactome 2 / 7 15.4× 6.78e-3 5.35e-2
Activation of gene expression by SREBF (SREBP)
CYP51A1, MVK, SCD, LSS
 Reactome 4 / 42 5.1× 7.46e-3 5.69e-2

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

GO term ⇵ GO ID ⇵ Overlap genes ⇵ Fold enrichment ⇵ P-value ⇵ FDR q-value ⇵
lens development in camera-type eye
CRYAA, CRYAB, CRYBB1, CRYBB3, CRYGC, CRYGD, CRYGS, FOXE3, GJA8, LIM2, MIP, PAX6
 GO:0002088 22 / 48 38.4× 3.55e-30 1.91e-26 ✓ sig.
visual perception
BFSP2, COL18A1, COL2A1, CRYAA, CRYBB1, CRYBB3, CRYGC, CRYGD, CRYGS, MIP, PAX6, RHO
 GO:0007601 22 / 215 8.6× 1.38e-14 8.73e-12 ✓ sig.
camera-type eye development
BMP4, CRYAA, CRYAB, FOXE3, GJA8, JAG1, LIM2, MITF, PAX6, PITX2, CRYBA4, CRYBB2
 GO:0043010 14 / 74 15.9× 1.91e-13 1.01e-10 ✓ sig.
lens fiber cell differentiation
CRYGD, HSF4, PITX3, TDRD7, MAF
 GO:0070306 5 / 15 27.9× 6.30e-7 5.69e-5 ✓ sig.
eye development
CPAMD8, FOXE3, PAX6, CRYGB, SIPA1L3, CRYGA, SIX6
 GO:0001654 7 / 49 12.0× 1.76e-6 1.30e-4 ✓ sig.
lens fiber cell development
BFSP2, VIM, BFSP1, CRYGB
 GO:0070307 4 / 9 37.2× 2.37e-6 1.65e-4 ✓ sig.
lens morphogenesis in camera-type eye
CRYAA, PITX3, TDRD7, NECTIN3
 GO:0002089 4 / 15 22.3× 2.43e-5 1.04e-3 ✓ sig.
gap junction-mediated intercellular transport
GJA8, MIP, GJA3
 GO:1990349 3 / 6 41.9× 3.27e-5 1.30e-3 ✓ sig.
axon ensheathment
PPARD, QKI, PRX
 GO:0008366 3 / 7 35.9× 5.66e-5 1.97e-3 ✓ sig.
maintenance of lens transparency
MIP, GCNT2, CHMP4B
 GO:0036438 3 / 8 31.4× 8.98e-5 2.79e-3 ✓ sig.
lens fiber cell morphogenesis
CRYAA, EPHA2, CRYGB
 GO:0070309 3 / 8 31.4× 8.98e-5 2.79e-3 ✓ sig.
iris morphogenesis
FOXE3, PAX6, PITX2
 GO:0061072 3 / 9 27.9× 1.34e-4 3.76e-3 ✓ sig.
embryonic eye morphogenesis
MFAP5, RARB, FBN1
 GO:0048048 3 / 11 22.9× 2.58e-4 6.04e-3 ✓ sig.
protein refolding
CRYAA, CRYAB, HSPA1A, HSPA1L
 GO:0042026 4 / 27 12.4× 2.79e-4 6.38e-3 ✓ sig.
cell population proliferation
BMP4, CDKN2C, CNTNAP2, FGF18, FGFR3, HMGA2, OCA2, PAX6, PPARD, RARB, TYR
 GO:0008283 11 / 263 3.5× 3.34e-4 7.22e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Cataract Congenital cataract 0.180 40 2.38e-62 1.60e-60 ✓ sig.
Congenital cataract Nuclear cataract 0.295 18 2.53e-45 1.27e-43 ✓ sig.
Congenital cataract Congenital total cataract 0.242 15 1.72e-36 6.99e-35 ✓ sig.
Cataract Nuclear cataract 0.089 18 5.58e-35 2.13e-33 ✓ sig.
Cataract Congenital total cataract 0.079 16 3.88e-31 1.30e-29 ✓ sig.
Congenital cataract Lamellar cataract 0.180 11 1.19e-27 3.52e-26 ✓ sig.
Posterior polar cataract Posterior subcapsular cataract 0.667 8 2.11e-27 6.13e-26 ✓ sig.
Congenital cataract Posterior subcapsular cataract 0.161 10 4.02e-24 9.90e-23 ✓ sig.
Cataract-microcornea syndrome Congenital cataract 0.148 9 1.11e-22 2.49e-21 ✓ sig.
Cataract Lamellar cataract 0.054 11 1.42e-21 3.07e-20 ✓ sig.
Cataract Posterior subcapsular cataract 0.054 11 1.42e-21 3.07e-20 ✓ sig.
Cataract-microcornea syndrome Nuclear cataract 0.333 7 2.81e-20 5.75e-19 ✓ sig.
Nuclear cataract Posterior subcapsular cataract 0.304 7 2.58e-19 4.98e-18 ✓ sig.
Congenital cataract Posterior polar cataract 0.113 7 7.57e-17 1.29e-15 ✓ sig.
Lamellar cataract Nuclear cataract 0.250 6 4.62e-16 7.45e-15 ✓ sig.
Congenital total cataract Nuclear cataract 0.207 6 7.98e-15 1.19e-13 ✓ sig.
Nuclear cataract Posterior polar cataract 0.227 5 6.64e-14 9.22e-13 ✓ sig.
Lamellar cataract Sutural cataract 0.286 4 2.11e-12 2.58e-11 ✓ sig.
Cataract-microcornea syndrome Lamellar cataract 0.235 4 1.77e-11 2.02e-10 ✓ sig.
Nuclear cataract Sutural cataract 0.190 4 1.96e-11 2.21e-10 ✓ sig.
Congenital total cataract Lamellar cataract 0.167 4 2.55e-10 2.59e-9 ✓ sig.
Congenital total cataract Posterior subcapsular cataract 0.167 4 2.55e-10 2.59e-9 ✓ sig.
Anterior polar cataract Nuclear cataract 0.150 3 5.36e-9 4.77e-8 ✓ sig.
Posterior subcapsular cataract Sutural cataract 0.200 3 5.42e-9 4.81e-8 ✓ sig.
Lamellar cataract Posterior polar cataract 0.176 3 1.52e-8 1.26e-7 ✓ sig.
Congenital total cataract Sutural cataract 0.150 3 1.84e-8 1.52e-7 ✓ sig.
Cataract-microcornea syndrome Congenital total cataract 0.130 3 7.70e-8 5.80e-7 ✓ sig.
Anterior polar cataract Lamellar cataract 0.143 2 2.78e-6 1.59e-5 ✓ sig.
Posterior polar cataract Sutural cataract 0.154 2 3.54e-6 1.99e-5 ✓ sig.
Non-syndromic cataract Nuclear cataract 0.100 2 3.87e-6 2.16e-5 ✓ sig.
Cataract-microcornea syndrome Sutural cataract 0.143 2 4.55e-6 2.52e-5 ✓ sig.
Anterior polar cataract Congenital total cataract 0.105 2 6.07e-6 3.27e-5 ✓ sig.
Cataract-microcornea syndrome Coralliform cataract 0.100 1 5.84e-4 1.14e-3 ✓ sig.
Cataract-microcornea syndrome nance-horan syndrome 0.100 1 5.84e-4 1.14e-3 ✓ sig.
Coralliform cataract Lamellar cataract 0.083 1 7.14e-4 1.31e-3 ✓ sig.
Anterior polar cataract Non-syndromic cataract 0.143 1 7.79e-4 1.39e-3 ✓ sig.
Congenital cataract facial dysmorphism neuropathy syndrome Posterior polar cataract 0.100 1 1.04e-3 1.72e-3 ✓ sig.
Non-syndromic cataract Sutural cataract 0.111 1 1.17e-3 1.88e-3 ✓ sig.
nance-horan syndrome Nuclear cataract 0.053 1 1.17e-3 1.88e-3 ✓ sig.
Coralliform cataract Nuclear cataract 0.053 1 1.17e-3 1.88e-3 ✓ sig.
Congenital cataract facial dysmorphism neuropathy syndrome Posterior subcapsular cataract 0.077 1 1.43e-3 2.21e-3 ✓ sig.
Congenital lamellar cataract Lamellar cataract 0.077 1 1.43e-3 2.21e-3 ✓ sig.
Congenital lamellar cataract Congenital total cataract 0.056 1 2.08e-3 2.95e-3 ✓ sig.
Congenital cataract facial dysmorphism neuropathy syndrome Nuclear cataract 0.050 1 2.34e-3 3.23e-3 ✓ sig.
Congenital cataract nance-horan syndrome 0.016 1 3.90e-3 4.94e-3 ✓ sig.
Congenital cataract Congenital cataract severe neonatal hepatopathy developmental delay syndrome 0.016 1 3.90e-3 4.94e-3 ✓ sig.
Congenital cataract Coralliform cataract 0.016 1 3.90e-3 4.94e-3 ✓ sig.
Congenital cataract Congenital cataract facial dysmorphism neuropathy syndrome 0.016 1 7.78e-3 9.07e-3 ✓ sig.
Congenital cataract Congenital lamellar cataract 0.016 1 7.78e-3 9.07e-3 ✓ sig.
Cataract nance-horan syndrome 0.005 1 1.31e-2 1.46e-2 ✓ sig.
Cataract Congenital cataract severe neonatal hepatopathy developmental delay syndrome 0.005 1 1.31e-2 1.46e-2 ✓ sig.
Cataract Congenital lamellar cataract 0.005 1 2.59e-2 2.77e-2 ✓ sig.