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 18

22 diseases · 48 shared-gene connections
22 Diseases
293 Unique genes
0.188 Avg. similarity score
Epidermal nevus Most-connected disease (12 links)
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Disease Searched: multisystemic smooth muscle dysfunction syndrome 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 ⇵
Epidermal nevus 12 12 9
Schimmelpenning-feuerstein-mims syndrome 11 11 3
Autoimmune lymphoproliferative disorder 8 8 12
Penile neoplasms 7 7 4
Bladder cancer 6 6 33
Splenic neoplasms 6 6 1
Nonmedullary thyroid cancer 5 5 7
Woolly hair nevus 5 5 1
Congenital arteriovenous malformation 4 4 9
Follicular thyroid cancer 4 4 7
Hypophosphatemic rickets 4 4 12
Melanocytic nevus 4 4 203
Neurofibrosarcoma 4 4 1
Seminoma 4 4 54
Splenomegaly 3 3 21
ciliary dyskinesia, primary, 39 3 3 0
Parkinson-dementia syndrome 1 1 1
autoimmune lymphoproliferative syndrome type 2A 1 1 0
bamforth-lazarus syndrome 1 1 0
immunodeficiency 64 1 1 0
lymphoproliferative syndrome 1 1 1 0
multisystemic smooth muscle dysfunction syndrome 1 1 0

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

Gene ⇵ Member diseases ⇵ Linked diseases
HRAS 12 / 22 Bladder cancer, Congenital arteriovenous malformation, Epidermal nevus, Follicular thyroid cancer and 8 more
NRAS 10 / 22 Autoimmune lymphoproliferative disorder, Bladder cancer, Epidermal nevus, Follicular thyroid cancer and 6 more
KRAS 8 / 22 Autoimmune lymphoproliferative disorder, Bladder cancer, Epidermal nevus, Melanocytic nevus and 4 more
FGFR3 4 / 22 Bladder cancer, Epidermal nevus, Melanocytic nevus, Seminoma
LRRC56 4 / 22 Ciliary dyskinesia, primary, 39, Congenital arteriovenous malformation, Epidermal nevus, Hypophosphatemic rickets
NOTCH1 4 / 22 Bladder cancer, Melanocytic nevus, Seminoma, Splenomegaly
PIK3CA 4 / 22 Bladder cancer, Congenital arteriovenous malformation, Epidermal nevus, Penile neoplasms
TP53 4 / 22 Bladder cancer, Melanocytic nevus, Penile neoplasms, Seminoma
FAS 3 / 22 Autoimmune lymphoproliferative disorder, Melanocytic nevus, Splenomegaly
FGFR2 3 / 22 Epidermal nevus, Melanocytic nevus, Seminoma
GNAS 3 / 22 Bladder cancer, Melanocytic nevus, Seminoma
GRIN2A 3 / 22 Bladder cancer, Melanocytic nevus, Seminoma
ITK 3 / 22 Autoimmune lymphoproliferative disorder, Lymphoproliferative syndrome 1, Melanocytic nevus
NF1 3 / 22 Bladder cancer, Melanocytic nevus, Seminoma
ACTA2 2 / 22 Autoimmune lymphoproliferative disorder, Multisystemic smooth muscle dysfunction syndrome
AFDN 2 / 22 Melanocytic nevus, Seminoma
ALK 2 / 22 Bladder cancer, Melanocytic nevus
APC 2 / 22 Bladder cancer, Splenomegaly
ATRX 2 / 22 Bladder cancer, Melanocytic nevus
BCORL1 2 / 22 Melanocytic nevus, Seminoma
BRAF 2 / 22 Bladder cancer, Melanocytic nevus
CASP10 2 / 22 Autoimmune lymphoproliferative disorder, Autoimmune lymphoproliferative syndrome type 2A
CASP8 2 / 22 Autoimmune lymphoproliferative disorder, Melanocytic nevus
CBL 2 / 22 Melanocytic nevus, Seminoma
CDC73 2 / 22 Melanocytic nevus, Seminoma
COL1A1 2 / 22 Melanocytic nevus, Seminoma
CSF1R 2 / 22 Melanocytic nevus, Seminoma
CTNNB1 2 / 22 Bladder cancer, Melanocytic nevus
DICER1 2 / 22 Bladder cancer, Melanocytic nevus
EP300 2 / 22 Melanocytic nevus, Seminoma
ERBB2 2 / 22 Bladder cancer, Melanocytic nevus
ERBB4 2 / 22 Bladder cancer, Melanocytic nevus
ERCC4 2 / 22 Melanocytic nevus, Seminoma
FBXW7 2 / 22 Bladder cancer, Melanocytic nevus
FLT3 2 / 22 Melanocytic nevus, Splenomegaly
FOXE1 2 / 22 Bamforth-lazarus syndrome, Nonmedullary thyroid cancer
KAT6B 2 / 22 Melanocytic nevus, Seminoma
KDM6A 2 / 22 Melanocytic nevus, Seminoma
KDR 2 / 22 Melanocytic nevus, Seminoma
KIT 2 / 22 Melanocytic nevus, Seminoma
KMT2C 2 / 22 Melanocytic nevus, Seminoma
MAPT 2 / 22 Parkinson-dementia syndrome, Splenomegaly
MECOM 2 / 22 Melanocytic nevus, Splenomegaly
MINPP1 2 / 22 Follicular thyroid cancer, Nonmedullary thyroid cancer
NFE2L2 2 / 22 Seminoma, Splenomegaly
PALB2 2 / 22 Melanocytic nevus, Seminoma
PDGFRA 2 / 22 Bladder cancer, Melanocytic nevus
PLCG1 2 / 22 Melanocytic nevus, Seminoma
PPARG 2 / 22 Follicular thyroid cancer, Melanocytic nevus
RASGRP1 2 / 22 Autoimmune lymphoproliferative disorder, Immunodeficiency 64
SRGAP1 2 / 22 Follicular thyroid cancer, Nonmedullary thyroid cancer
STAG2 2 / 22 Bladder cancer, Melanocytic nevus
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 ⇵
Pathways in cancer
CASP8, FAS, FASLG, NRAS, RASGRP1, KRAS, FGF23, FGFR3, HRAS, RB1, GLI2, MAP2K1
 KEGG 23 / 533 7.7× 4.12e-15 1.39e-12 ✓ sig.
Hepatitis C
CASP8, FAS, FASLG, NRAS, KRAS, HRAS, RB1, MAP2K1, PIK3CA, TP53, EIF2AK1, OCLN
 KEGG 12 / 159 13.5× 6.11e-11 9.34e-9 ✓ sig.
MAPK signaling pathway
FAS, FASLG, NRAS, RASGRP1, KRAS, FGF23, FGFR3, HRAS, CACNA1H, MAP2K1, TEK, TP53
 KEGG 15 / 299 9.0× 6.65e-11 1.01e-8 ✓ sig.
Hepatitis B
CASP10, CASP8, FAS, FASLG, NRAS, KRAS, HRAS, RB1, MAP2K1, PIK3CA, TP53, STAT5B
 KEGG 12 / 163 13.2× 8.18e-11 1.22e-8 ✓ sig.
Apoptosis
CASP10, CASP8, FAS, FASLG, NRAS, KRAS, HRAS, MAP2K1, PIK3CA, ATM, TP53
 KEGG 11 / 137 14.4× 2.12e-10 2.88e-8 ✓ sig.
Chronic myeloid leukemia
NRAS, KRAS, HRAS, RB1, MAP2K1, PIK3CA, TP53, MECOM, STAT5B
 KEGG 9 / 77 21.0× 3.59e-10 4.67e-8 ✓ sig.
Thyroid cancer
NRAS, KRAS, HRAS, MAP2K1, TP53, PAX8, PPARG
 KEGG 7 / 37 33.9× 1.10e-9 1.27e-7 ✓ sig.
Signaling by FGFR3 fusions in cancer
NRAS, KRAS, FGFR3, HRAS, PIK3CA
 Reactome 5 / 10 89.6× 1.14e-9 1.31e-7 ✓ sig.
Signaling by FGFR3 point mutants in cancer
NRAS, KRAS, FGF23, FGFR3, HRAS, PIK3CA
 Reactome 6 / 22 48.9× 1.67e-9 1.84e-7 ✓ sig.
Bladder cancer
NRAS, KRAS, FGFR3, HRAS, RB1, MAP2K1, TP53
 KEGG 7 / 41 30.6× 2.36e-9 2.52e-7 ✓ sig.
Human papillomavirus infection
CASP8, FAS, FASLG, NRAS, KRAS, HRAS, RB1, MAP2K1, PIK3CA, ATM, TP53, APC
 KEGG 14 / 333 7.5× 3.14e-9 3.27e-7 ✓ sig.
Activation of RAS in B cells
NRAS, RASGRP1, KRAS, HRAS
 Reactome 4 / 5 143× 4.40e-9 4.45e-7 ✓ sig.
FasL/ CD95L signaling
CASP10, CASP8, FAS, FASLG
 Reactome 4 / 5 143× 4.40e-9 4.45e-7 ✓ sig.
Central carbon metabolism in cancer
NRAS, KRAS, FGFR3, HRAS, MAP2K1, PIK3CA, TP53, FLT3
 KEGG 8 / 71 20.2× 4.92e-9 4.93e-7 ✓ sig.
Ras signaling pathway
FASLG, NRAS, RASGRP1, KRAS, FGF23, FGFR3, HRAS, MAP2K1, PIK3CA, TEK, PLA2G6, FLT3
 KEGG 12 / 237 9.1× 6.07e-9 5.97e-7 ✓ 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 gene expression
ACTA2, KRAS, HRAS, MAP2K1, VDR, ATM, TP53, APP, NFE2L2, NOTCH1, OCLN, PSEN1
 GO:0010628 14 / 504 7.7× 2.38e-9 4.84e-7 ✓ sig.
negative regulation of gene expression
HRAS, RB1, MAP2K1, PIK3CA, TP53, MAPT, APOE, APP, NOTCH1, OCLN, PSEN1, PPARG
 GO:0010629 12 / 339 9.9× 2.57e-9 5.16e-7 ✓ sig.
intracellular phosphate ion homeostasis
FGF23, SLC34A3, ENPP1, SLC34A1
 GO:0030643 4 / 10 112× 3.12e-8 4.57e-6 ✓ sig.
positive regulation of ERK1 and ERK2 cascade
ACTA2, FGF23, FGFR3, HRAS, MAP2K1, TEK, APOE, APP, NOTCH1
 GO:0070374 9 / 201 12.5× 4.02e-8 5.66e-6 ✓ sig.
thyroid gland development
MAP2K1, CGA, PAX8, NKX2-1, FOXE1
 GO:0030878 5 / 30 46.5× 6.77e-8 8.82e-6 ✓ sig.
positive regulation of neuron apoptotic process
CASP10, CASP8, FASLG, ATM, TP53, APP
 GO:0043525 6 / 65 25.7× 1.18e-7 1.42e-5 ✓ sig.
positive regulation of apoptotic process
CASP8, FAS, FASLG, CTLA4, ATM, TP53, APC, APP, NOTCH1, PSEN1
 GO:0043065 10 / 326 8.6× 2.34e-7 2.54e-5 ✓ sig.
Ras protein signal transduction
NRAS, RASGRP1, KRAS, HRAS, RB1, TP53
 GO:0007265 6 / 79 21.2× 3.83e-7 3.83e-5 ✓ sig.
positive regulation of amyloid fibril formation
APOE, APP, PSEN1
 GO:1905908 3 / 5 167× 4.38e-7 4.30e-5 ✓ sig.
positive regulation of DNA-templated transcription
FGF23, GLI2, MAP2K1, TP53, AHR, APOE, MECOM, NFE2L2, NOTCH1, PSEN1, PAX8, PPARG
 GO:0045893 14 / 778 5.0× 5.26e-7 5.00e-5 ✓ sig.
positive regulation of transcription by RNA polymerase II
HRAS, RB1, GLI2, VDR, ATM, MAFF, TP53, AHR, APP, MECOM, NFE2L2, NOTCH1
 GO:0045944 17 / 1,208 3.9× 8.27e-7 7.25e-5 ✓ sig.
thymus development
MAP2K1, ATM, TYR, PSEN1, FOXE1
 GO:0048538 5 / 50 27.9× 9.52e-7 8.11e-5 ✓ sig.
neuron apoptotic process
KRAS, HRAS, RB1, ATM, TP53, PSEN1
 GO:0051402 6 / 98 17.1× 1.37e-6 1.10e-4 ✓ sig.
cellular senescence
PRKCD, HRAS, MAP2K1, ATM, TP53
 GO:0090398 5 / 57 24.5× 1.85e-6 1.40e-4 ✓ sig.
apoptotic process
CASP10, CASP8, FAS, FASLG, PRKCD, FGFR3, RB1, TP53, AHR, APP, MECOM, NOTCH1
 GO:0006915 13 / 747 4.9× 2.07e-6 1.53e-4 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Follicular thyroid cancer Nonmedullary thyroid cancer 0.364 4 5.23e-13 6.47e-12 ✓ sig.
Epidermal nevus Schimmelpenning-feuerstein-mims syndrome 0.375 3 5.75e-11 5.86e-10 ✓ sig.
Bladder cancer Epidermal nevus 0.333 3 2.30e-10 2.21e-9 ✓ sig.
Epidermal nevus Penile neoplasms 0.333 3 2.30e-10 2.21e-9 ✓ sig.
Congenital arteriovenous malformation Epidermal nevus 0.214 3 4.83e-9 4.08e-8 ✓ sig.
Penile neoplasms Schimmelpenning-feuerstein-mims syndrome 0.333 2 1.52e-7 1.03e-6 ✓ sig.
Bladder cancer Seminoma 0.333 2 1.52e-7 1.03e-6 ✓ sig.
Bladder cancer Schimmelpenning-feuerstein-mims syndrome 0.333 2 1.52e-7 1.03e-6 ✓ sig.
Bladder cancer Penile neoplasms 0.286 2 3.04e-7 1.95e-6 ✓ sig.
Autoimmune lymphoproliferative disorder Splenomegaly 0.103 3 3.07e-7 1.97e-6 ✓ sig.
Epidermal nevus Seminoma 0.222 2 5.31e-7 3.27e-6 ✓ sig.
Nonmedullary thyroid cancer Schimmelpenning-feuerstein-mims syndrome 0.222 2 5.31e-7 3.27e-6 ✓ sig.
Follicular thyroid cancer Schimmelpenning-feuerstein-mims syndrome 0.222 2 5.31e-7 3.27e-6 ✓ sig.
Autoimmune lymphoproliferative disorder Schimmelpenning-feuerstein-mims syndrome 0.154 2 1.39e-6 7.96e-6 ✓ sig.
Melanocytic nevus Schimmelpenning-feuerstein-mims syndrome 0.154 2 1.39e-6 7.96e-6 ✓ sig.
Congenital arteriovenous malformation Penile neoplasms 0.167 2 1.82e-6 1.02e-5 ✓ sig.
Melanocytic nevus Penile neoplasms 0.143 2 2.78e-6 1.51e-5 ✓ sig.
Epidermal nevus Nonmedullary thyroid cancer 0.154 2 3.72e-6 1.97e-5 ✓ sig.
Epidermal nevus Follicular thyroid cancer 0.154 2 3.72e-6 1.97e-5 ✓ sig.
Schimmelpenning-feuerstein-mims syndrome Splenomegaly 0.091 2 4.80e-6 2.50e-5 ✓ sig.
Autoimmune lymphoproliferative disorder Epidermal nevus 0.118 2 9.72e-6 4.82e-5 ✓ sig.
Epidermal nevus Melanocytic nevus 0.118 2 9.72e-6 4.82e-5 ✓ sig.
Epidermal nevus Hypophosphatemic rickets 0.111 2 1.17e-5 5.71e-5 ✓ sig.
Congenital arteriovenous malformation Hypophosphatemic rickets 0.100 2 2.00e-5 9.48e-5 ✓ sig.
Autoimmune lymphoproliferative disorder Melanocytic nevus 0.095 2 2.54e-5 1.19e-4 ✓ sig.
Splenic neoplasms Woolly hair nevus 0.500 1 6.49e-5 2.33e-4 ✓ sig.
Seminoma Splenic neoplasms 0.250 1 1.95e-4 5.35e-4 ✓ sig.
Schimmelpenning-feuerstein-mims syndrome Splenic neoplasms 0.250 1 1.95e-4 5.35e-4 ✓ sig.
Neurofibrosarcoma Schimmelpenning-feuerstein-mims syndrome 0.250 1 1.95e-4 5.35e-4 ✓ sig.
Seminoma Woolly hair nevus 0.250 1 1.95e-4 5.35e-4 ✓ sig.
Schimmelpenning-feuerstein-mims syndrome Woolly hair nevus 0.250 1 1.95e-4 5.35e-4 ✓ sig.
Bladder cancer Splenic neoplasms 0.200 1 2.60e-4 6.51e-4 ✓ sig.
Penile neoplasms Splenic neoplasms 0.200 1 2.60e-4 6.51e-4 ✓ sig.
Bladder cancer Woolly hair nevus 0.200 1 2.60e-4 6.51e-4 ✓ sig.
Penile neoplasms Woolly hair nevus 0.200 1 2.60e-4 6.51e-4 ✓ sig.
Neurofibrosarcoma Nonmedullary thyroid cancer 0.125 1 4.55e-4 9.73e-4 ✓ sig.
Epidermal nevus Neurofibrosarcoma 0.125 1 4.55e-4 9.73e-4 ✓ sig.
Follicular thyroid cancer Neurofibrosarcoma 0.125 1 4.55e-4 9.73e-4 ✓ sig.
ciliary dyskinesia, primary, 39 Epidermal nevus 0.125 1 4.55e-4 9.73e-4 ✓ sig.
bamforth-lazarus syndrome Nonmedullary thyroid cancer 0.125 1 4.55e-4 9.73e-4 ✓ sig.
ciliary dyskinesia, primary, 39 Congenital arteriovenous malformation 0.100 1 5.84e-4 1.16e-3 ✓ sig.
Autoimmune lymphoproliferative disorder multisystemic smooth muscle dysfunction syndrome 0.083 1 7.14e-4 1.34e-3 ✓ sig.
Autoimmune lymphoproliferative disorder lymphoproliferative syndrome 1 0.083 1 7.14e-4 1.34e-3 ✓ sig.
Autoimmune lymphoproliferative disorder immunodeficiency 64 0.083 1 7.14e-4 1.34e-3 ✓ sig.
Autoimmune lymphoproliferative disorder autoimmune lymphoproliferative syndrome type 2A 0.083 1 7.14e-4 1.34e-3 ✓ sig.
Hypophosphatemic rickets Splenic neoplasms 0.077 1 7.79e-4 1.41e-3 ✓ sig.
ciliary dyskinesia, primary, 39 Hypophosphatemic rickets 0.077 1 7.79e-4 1.41e-3 ✓ sig.
Parkinson-dementia syndrome Splenomegaly 0.048 1 1.30e-3 2.06e-3 ✓ sig.