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 29

20 diseases · 64 shared-gene connections
20 Diseases
231 Unique genes
0.119 Avg. similarity score
Congenital cataract Most-connected disease (16 links)
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Disease Searched: Cataract 19, multiple types 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 ⇵
Congenital cataract 16 16 61
Nuclear cataract 12 12 18
Congenital total cataract 11 11 16
Lamellar cataract 10 10 11
Cataract 9 9 211
Posterior subcapsular cataract 9 9 11
Sutural cataract 9 9 6
Cataract-microcornea syndrome 8 8 10
Posterior polar cataract 7 7 8
Cataract 15, multiple types 5 5 1
Cataract 17, multiple types 4 4 1
Cataract 20, multiple types 4 4 1
Cataract 3, multiple types 4 4 1
Cataract, autosomal recessive congenital 2 4 4 1
Coralliform cataract 4 4 1
Cataract 19, multiple types 3 3 1
Cataract 31, multiple types 3 3 1
Progressive myopathy with eccentric cores 3 3 1
Congenital cataract severe neonatal hepatopathy developmental delay syndrome 2 2 1
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 1 1 1

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

Gene ⇵ Member diseases ⇵ Linked diseases
MIP 9 / 20 Cataract, Cataract 15, multiple types, Congenital cataract, Congenital total cataract and 5 more
CRYBB2 8 / 20 Cataract, Cataract 3, multiple types, Cataract-microcornea syndrome, Congenital cataract and 4 more
CRYBA1 7 / 20 Cataract, Congenital cataract, Lamellar cataract, Nuclear cataract and 3 more
CRYAA 6 / 20 Cataract, Cataract-microcornea syndrome, Congenital cataract, Congenital total cataract and 2 more
CRYAB 6 / 20 Cataract, Congenital cataract, Lamellar cataract, Nuclear cataract and 2 more
CRYGD 6 / 20 Cataract, Cataract-microcornea syndrome, Congenital cataract, Coralliform cataract and 2 more
EPHA2 6 / 20 Cataract, Congenital cataract, Congenital total cataract, Nuclear cataract and 2 more
GJA8 6 / 20 Cataract, Cataract-microcornea syndrome, Congenital cataract, Congenital total cataract and 2 more
CHMP4B 5 / 20 Cataract, Cataract 31, multiple types, Congenital cataract, Posterior polar cataract and 1 more
CRYBB1 5 / 20 Cataract, Cataract 17, multiple types, Cataract-microcornea syndrome, Congenital cataract and 1 more
CRYGC 5 / 20 Cataract, Cataract-microcornea syndrome, Congenital cataract, Lamellar cataract and 1 more
CRYGS 5 / 20 Cataract, Cataract 20, multiple types, Congenital cataract, Lamellar cataract and 1 more
FYCO1 5 / 20 Cataract, Cataract, autosomal recessive congenital 2, Congenital cataract, Congenital total cataract and 1 more
GJA3 5 / 20 Cataract, Congenital cataract, Nuclear cataract, Posterior polar cataract and 1 more
UNC45B 5 / 20 Cataract, Congenital cataract, Nuclear cataract, Posterior subcapsular cataract and 1 more
BFSP2 4 / 20 Cataract, Congenital cataract, Lamellar cataract, Sutural cataract
CRYBA4 4 / 20 Cataract, Cataract-microcornea syndrome, Congenital cataract, Lamellar cataract
CRYGB 4 / 20 Cataract, Congenital cataract, Congenital total cataract, Lamellar cataract
HSF4 4 / 20 Cataract, Congenital cataract, Congenital total cataract, Lamellar cataract
LEMD2 4 / 20 Cataract, Congenital cataract, Congenital total cataract, Posterior subcapsular cataract
LIM2 4 / 20 Cataract, Cataract 19, multiple types, Congenital cataract, Congenital total cataract
NHS 4 / 20 Cataract, Cataract-microcornea syndrome, Congenital cataract, Nuclear cataract
PITX3 4 / 20 Cataract, Congenital cataract, Posterior polar cataract, Posterior subcapsular cataract
AGK 3 / 20 Cataract, Congenital cataract, Congenital total cataract
BFSP1 3 / 20 Cataract, Congenital cataract, Nuclear cataract
CRYBA2 3 / 20 Cataract, Congenital cataract, Nuclear cataract
CRYBB3 3 / 20 Cataract, Congenital cataract, Nuclear cataract
CYP51A1 3 / 20 Cataract, Congenital cataract, Congenital cataract severe neonatal hepatopathy developmental delay syndrome
GCNT2 3 / 20 Cataract, Congenital cataract, Congenital total cataract
LSS 3 / 20 Cataract, Congenital cataract, Congenital total cataract
MAF 3 / 20 Cataract, Cataract-microcornea syndrome, Congenital cataract
PANK4 3 / 20 Cataract, Posterior polar cataract, Posterior subcapsular cataract
PGRMC1 3 / 20 Cataract, Congenital cataract, Congenital total cataract
SIPA1L3 3 / 20 Cataract, Congenital cataract, Congenital total cataract
SLC16A12 3 / 20 Cataract, Cataract-microcornea syndrome, Congenital cataract
WFS1 3 / 20 Cataract, Congenital cataract, Nuclear cataract
DNMBP 2 / 20 Cataract, Congenital total cataract
FOXE3 2 / 20 Cataract, Congenital cataract
GEMIN4 2 / 20 Congenital cataract, Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
IARS2 2 / 20 Cataract, Congenital cataract
PAX6 2 / 20 Cataract, Congenital cataract
PSMC3 2 / 20 Cataract, Congenital cataract
TDRD7 2 / 20 Cataract, Congenital cataract
VIM 2 / 20 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 ⇵
Activation of gene expression by SREBF (SREBP)
CYP51A1, MVK, SCD, LSS, SC5D, DHCR7
 Reactome 6 / 42 7.4× 1.39e-4 2.47e-3 ✓ sig.
Steroid biosynthesis
CYP51A1, LSS, SC5D, DHCR7
 KEGG 4 / 20 10.4× 5.07e-4 6.74e-3 ✓ sig.
EPHA-mediated growth cone collapse
EFNA3, EFNA5, EPHA2, EPHA4
 Reactome 4 / 20 10.4× 5.07e-4 6.74e-3 ✓ sig.
EPH-Ephrin signaling
EFNA3, EFNA5, EPHA2, EPHA4
 Reactome 4 / 22 9.5× 7.43e-4 9.05e-3 ✓ sig.
Collagen chain trimerization
COL18A1, COL2A1, COL5A1, COL12A1, COL4A1
 Reactome 5 / 44 5.9× 1.49e-3 1.53e-2 ✓ sig.
Cholesterol biosynthesis via desmosterol
SC5D, DHCR7
 Reactome 2 / 4 26.0× 2.15e-3 2.01e-2 ✓ sig.
Cholesterol biosynthesis via lathosterol
SC5D, DHCR7
 Reactome 2 / 4 26.0× 2.15e-3 2.01e-2 ✓ sig.
Extracellular matrix organization
COL2A1, COL5A1, COL4A1
 Reactome 3 / 15 10.4× 2.69e-3 2.36e-2 ✓ sig.
Assembly of collagen fibrils and other multimeric structures
COL18A1, COL2A1, COL5A1, COL12A1, COL4A1
 Reactome 5 / 51 5.1× 2.88e-3 2.48e-2 ✓ sig.
Collagen degradation
COL18A1, COL2A1, COL5A1, COL12A1, COL4A1
 Reactome 5 / 52 5.0× 3.14e-3 2.63e-2 ✓ sig.
Melanin biosynthesis
OCA2, TYR
 Reactome 2 / 5 20.8× 3.55e-3 2.86e-2 ✓ sig.
Protein digestion and absorption
ATP1B1, COL18A1, COL2A1, COL5A1, SLC7A8, COL12A1, COL4A1
 KEGG 7 / 103 3.5× 3.69e-3 2.95e-2 ✓ sig.
HSF1-dependent transactivation
CRYAB, HSPA1A, HSPA1L
 Reactome 3 / 19 8.2× 5.42e-3 3.85e-2 ✓ sig.
Protein processing in endoplasmic reticulum
CRYAA, CRYAB, HSPA1A, HSPA1L, KRTCAP2, NPLOC4, SIL1, WFS1, ERO1B
 KEGG 9 / 171 2.7× 5.81e-3 4.03e-2 ✓ sig.
Cholesterol biosynthesis
CYP51A1, MVK, LSS
 Reactome 3 / 21 7.4× 7.23e-3 4.64e-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 ⇵
lens development in camera-type eye
CRYAA, CRYAB, CRYBB1, CRYBB3, CRYGC, CRYGD, CRYGS, FOXE3, GJA8, LIM2, MIP, PAX6
 GO:0002088 22 / 48 37.1× 7.91e-30 4.56e-26 ✓ sig.
visual perception
BFSP2, COL18A1, COL2A1, CRYAA, CRYBB1, CRYBB3, CRYGC, CRYGD, CRYGS, MIP, PAX6, RHO
 GO:0007601 22 / 215 8.3× 2.87e-14 1.82e-11 ✓ sig.
camera-type eye development
BMP4, CRYAA, CRYAB, FOXE3, GJA8, JAG1, LIM2, MITF, PAX6, PITX2, CRYBA4, CRYBB2
 GO:0043010 14 / 74 15.3× 3.10e-13 1.62e-10 ✓ sig.
lens fiber cell differentiation
CRYGD, HSF4, PITX3, TDRD7, MAF
 GO:0070306 5 / 15 27.0× 7.50e-7 6.78e-5 ✓ sig.
eye development
CPAMD8, FOXE3, PAX6, CRYGB, SIPA1L3, CRYGA, SIX6
 GO:0001654 7 / 49 11.6× 2.22e-6 1.65e-4 ✓ sig.
lens fiber cell development
BFSP2, VIM, BFSP1, CRYGB
 GO:0070307 4 / 9 36.0× 2.73e-6 1.95e-4 ✓ sig.
lens morphogenesis in camera-type eye
CRYAA, PITX3, TDRD7, NECTIN3
 GO:0002089 4 / 15 21.6× 2.79e-5 1.18e-3 ✓ sig.
gap junction-mediated intercellular transport
GJA8, MIP, GJA3
 GO:1990349 3 / 6 40.4× 3.63e-5 1.45e-3 ✓ sig.
axon ensheathment
PPARD, QKI, PRX
 GO:0008366 3 / 7 34.7× 6.29e-5 2.20e-3 ✓ sig.
maintenance of lens transparency
MIP, GCNT2, CHMP4B
 GO:0036438 3 / 8 30.3× 9.97e-5 3.09e-3 ✓ sig.
lens fiber cell morphogenesis
CRYAA, EPHA2, CRYGB
 GO:0070309 3 / 8 30.3× 9.97e-5 3.09e-3 ✓ sig.
cell population proliferation
BMP4, CDKN2C, CNTNAP2, FGF18, FGFR3, HMGA2, OCA2, PAX6, PPARD, RARB, TYR, CDK9
 GO:0008283 12 / 263 3.7× 1.11e-4 3.34e-3 ✓ sig.
cholesterol biosynthetic process
CYP51A1, MVK, LSS, SC5D, DHCR7
 GO:0006695 5 / 39 10.4× 1.13e-4 3.38e-3 ✓ sig.
iris morphogenesis
FOXE3, PAX6, PITX2
 GO:0061072 3 / 9 27.0× 1.48e-4 4.10e-3 ✓ sig.
embryonic eye morphogenesis
MFAP5, RARB, FBN1
 GO:0048048 3 / 11 22.1× 2.86e-4 6.56e-3 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Cataract Congenital cataract 0.177 41 2.64e-63 8.20e-62 ✓ sig.
Congenital cataract Nuclear cataract 0.290 18 3.23e-45 8.14e-44 ✓ sig.
Congenital cataract Congenital total cataract 0.238 15 2.09e-36 4.66e-35 ✓ sig.
Cataract Nuclear cataract 0.085 18 1.25e-34 2.70e-33 ✓ sig.
Cataract Congenital total cataract 0.075 16 7.92e-31 1.58e-29 ✓ sig.
Congenital cataract Lamellar cataract 0.177 11 1.36e-27 2.53e-26 ✓ sig.
Posterior polar cataract Posterior subcapsular cataract 0.667 8 2.01e-27 3.71e-26 ✓ sig.
Cataract-microcornea syndrome Congenital cataract 0.161 10 4.13e-25 7.10e-24 ✓ sig.
Congenital cataract Posterior subcapsular cataract 0.159 10 4.53e-24 7.52e-23 ✓ sig.
Cataract Lamellar cataract 0.052 11 2.31e-21 3.53e-20 ✓ sig.
Cataract-microcornea syndrome Nuclear cataract 0.318 7 9.00e-20 1.31e-18 ✓ sig.
Nuclear cataract Posterior subcapsular cataract 0.304 7 2.47e-19 3.53e-18 ✓ sig.
Congenital cataract Posterior polar cataract 0.111 7 8.21e-17 1.07e-15 ✓ sig.
Lamellar cataract Nuclear cataract 0.250 6 4.46e-16 5.63e-15 ✓ sig.
Congenital total cataract Nuclear cataract 0.207 6 7.71e-15 9.24e-14 ✓ sig.
Nuclear cataract Posterior polar cataract 0.227 5 6.45e-14 7.39e-13 ✓ sig.
Lamellar cataract Sutural cataract 0.286 4 2.06e-12 2.16e-11 ✓ sig.
Nuclear cataract Sutural cataract 0.190 4 1.91e-11 1.89e-10 ✓ sig.
Cataract-microcornea syndrome Lamellar cataract 0.222 4 2.89e-11 2.82e-10 ✓ sig.
Congenital total cataract Lamellar cataract 0.167 4 2.50e-10 2.26e-9 ✓ sig.
Congenital total cataract Posterior subcapsular cataract 0.167 4 2.50e-10 2.26e-9 ✓ sig.
Posterior subcapsular cataract Sutural cataract 0.200 3 5.32e-9 4.35e-8 ✓ sig.
Lamellar cataract Posterior polar cataract 0.176 3 1.49e-8 1.16e-7 ✓ sig.
Congenital total cataract Sutural cataract 0.150 3 1.81e-8 1.40e-7 ✓ sig.
Cataract-microcornea syndrome Congenital total cataract 0.125 3 1.08e-7 7.54e-7 ✓ sig.
Posterior polar cataract Sutural cataract 0.154 2 3.50e-6 1.99e-5 ✓ sig.
Cataract-microcornea syndrome Sutural cataract 0.133 2 5.62e-6 3.11e-5 ✓ sig.
Cataract 15, multiple types Sutural cataract 0.143 1 3.87e-4 7.33e-4 ✓ sig.
Cataract 3, multiple types Sutural cataract 0.143 1 3.87e-4 7.33e-4 ✓ sig.
Cataract 20, multiple types Sutural cataract 0.143 1 3.87e-4 7.33e-4 ✓ sig.
Cataract 15, multiple types Posterior polar cataract 0.111 1 5.17e-4 9.13e-4 ✓ sig.
Cataract 31, multiple types Posterior polar cataract 0.111 1 5.17e-4 9.13e-4 ✓ sig.
Cataract 3, multiple types Cataract-microcornea syndrome 0.091 1 6.46e-4 1.09e-3 ✓ sig.
Cataract 17, multiple types Cataract-microcornea syndrome 0.091 1 6.46e-4 1.09e-3 ✓ sig.
Cataract-microcornea syndrome Coralliform cataract 0.091 1 6.46e-4 1.09e-3 ✓ sig.
Cataract 20, multiple types Lamellar cataract 0.083 1 7.10e-4 1.17e-3 ✓ sig.
Cataract 15, multiple types Lamellar cataract 0.083 1 7.10e-4 1.17e-3 ✓ sig.
Cataract 3, multiple types Posterior subcapsular cataract 0.083 1 7.10e-4 1.17e-3 ✓ sig.
Cataract 15, multiple types Posterior subcapsular cataract 0.083 1 7.10e-4 1.17e-3 ✓ sig.
Posterior subcapsular cataract Progressive myopathy with eccentric cores 0.083 1 7.10e-4 1.17e-3 ✓ sig.
Coralliform cataract Lamellar cataract 0.083 1 7.10e-4 1.17e-3 ✓ sig.
Cataract 31, multiple types Posterior subcapsular cataract 0.083 1 7.10e-4 1.17e-3 ✓ sig.
Cataract, autosomal recessive congenital 2 Congenital total cataract 0.059 1 1.03e-3 1.57e-3 ✓ sig.
Cataract 15, multiple types Congenital total cataract 0.059 1 1.03e-3 1.57e-3 ✓ sig.
Cataract 3, multiple types Congenital total cataract 0.059 1 1.03e-3 1.57e-3 ✓ sig.
Cataract 19, multiple types Congenital total cataract 0.059 1 1.03e-3 1.57e-3 ✓ sig.
Coralliform cataract Nuclear cataract 0.053 1 1.16e-3 1.73e-3 ✓ sig.
Cataract 17, multiple types Nuclear cataract 0.053 1 1.16e-3 1.73e-3 ✓ sig.
Nuclear cataract Progressive myopathy with eccentric cores 0.053 1 1.16e-3 1.73e-3 ✓ sig.
Cataract, autosomal recessive congenital 2 Nuclear cataract 0.053 1 1.16e-3 1.73e-3 ✓ sig.
Cataract 31, multiple types Congenital cataract 0.016 1 3.94e-3 4.83e-3 ✓ sig.
Cataract 20, multiple types Congenital cataract 0.016 1 3.94e-3 4.83e-3 ✓ sig.
Congenital cataract Coralliform cataract 0.016 1 3.94e-3 4.83e-3 ✓ sig.
Cataract 17, multiple types Congenital cataract 0.016 1 3.94e-3 4.83e-3 ✓ sig.
Congenital cataract Congenital cataract severe neonatal hepatopathy developmental delay syndrome 0.016 1 3.94e-3 4.83e-3 ✓ sig.
Congenital cataract Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 0.016 1 3.94e-3 4.83e-3 ✓ sig.
Cataract 19, multiple types Congenital cataract 0.016 1 3.94e-3 4.83e-3 ✓ sig.
Congenital cataract Progressive myopathy with eccentric cores 0.016 1 3.94e-3 4.83e-3 ✓ sig.
Cataract, autosomal recessive congenital 2 Congenital cataract 0.016 1 3.94e-3 4.83e-3 ✓ sig.
Cataract Cataract 17, multiple types 0.005 1 1.36e-2 1.50e-2 ✓ sig.
Cataract Congenital cataract severe neonatal hepatopathy developmental delay syndrome 0.005 1 1.36e-2 1.50e-2 ✓ sig.
Cataract Cataract 19, multiple types 0.005 1 1.36e-2 1.50e-2 ✓ sig.
Cataract Cataract, autosomal recessive congenital 2 0.005 1 1.36e-2 1.50e-2 ✓ sig.
Cataract Cataract 20, multiple types 0.005 1 1.36e-2 1.50e-2 ✓ sig.