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

15 diseases · 28 shared-gene connections
15 Diseases
216 Unique genes
0.062 Avg. similarity score
Hyperlipoproteinemia Most-connected disease (10 links)
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Disease Searched: Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies 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 ⇵
Hyperlipoproteinemia 10 10 40
Hypertriglyceridemia 7 7 28
Lipoprotein lipase deficiency 7 7 30
Hyperlipidemia 6 6 141
Dyslipidemias 5 5 18
Apolipoprotein a5 deficiency 4 4 1
hypercholesterolemia, familial, 1 3 3 1
Apolipoprotein c-ii deficiency 2 2 1
Congenital disorder of deglycosylation 2 2 3
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies 2 2 1
Hypercholesterolemia 2 2 46
congenital disorder of glycosylation, type iit 2 2 1
hypercholesterolemia, familial, 4 2 2 1
Anovulation 1 1 1
Infantile hypertriglyceridemia with hepatosteatosis 1 1 2

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

Gene ⇵ Member diseases ⇵ Linked diseases
LDLR 6 / 15 Dyslipidemias, Hypercholesterolemia, hypercholesterolemia, familial, 1, Hyperlipidemia and 2 more
LPL 6 / 15 Dyslipidemias, Hypercholesterolemia, Hyperlipidemia, Hyperlipoproteinemia and 2 more
APOA5 5 / 15 Apolipoprotein a5 deficiency, Hyperlipidemia, Hyperlipoproteinemia, Hypertriglyceridemia and 1 more
APOB 5 / 15 Hypercholesterolemia, Hyperlipidemia, Hyperlipoproteinemia, Hypertriglyceridemia and 1 more
APOE 4 / 15 Hypercholesterolemia, Hyperlipidemia, Hyperlipoproteinemia, Lipoprotein lipase deficiency
CETP 4 / 15 Hyperlipidemia, Hyperlipoproteinemia, Hypertriglyceridemia, Lipoprotein lipase deficiency
NEIL1 4 / 15 Congenital disorder of deglycosylation, Dyslipidemias, Hyperlipidemia, Hyperlipoproteinemia
PCSK9 4 / 15 Hypercholesterolemia, Hyperlipidemia, Hyperlipoproteinemia, Lipoprotein lipase deficiency
PPARA 4 / 15 Dyslipidemias, Hyperlipidemia, Hyperlipoproteinemia, Hypertriglyceridemia
ZPR1 4 / 15 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, Hyperlipidemia, Hypertriglyceridemia, Lipoprotein lipase deficiency
ABCA1 3 / 15 Hypercholesterolemia, Hyperlipidemia, Hyperlipoproteinemia
ADRB2 3 / 15 Hypercholesterolemia, Hyperlipidemia, Hyperlipoproteinemia
APOC2 3 / 15 Apolipoprotein c-ii deficiency, Hyperlipidemia, Hyperlipoproteinemia
APOC3 3 / 15 Hypercholesterolemia, Hyperlipidemia, Hyperlipoproteinemia
GALNT2 3 / 15 congenital disorder of glycosylation, type iit, Hyperlipidemia, Lipoprotein lipase deficiency
GCKR 3 / 15 Hyperlipidemia, Hypertriglyceridemia, Lipoprotein lipase deficiency
HMGCR 3 / 15 Hypercholesterolemia, Hyperlipidemia, Hyperlipoproteinemia
LDLRAP1 3 / 15 Hypercholesterolemia, hypercholesterolemia, familial, 4, Hyperlipoproteinemia
LEPR 3 / 15 Dyslipidemias, Hyperlipidemia, Hyperlipoproteinemia
LIPC 3 / 15 Hypercholesterolemia, Hyperlipidemia, Hyperlipoproteinemia
PLTP 3 / 15 Dyslipidemias, Hyperlipidemia, Hypertriglyceridemia
TDRD15 3 / 15 Hyperlipidemia, Hypertriglyceridemia, Lipoprotein lipase deficiency
ABCB1 2 / 15 Hyperlipidemia, Hyperlipoproteinemia
ABCG8 2 / 15 Hyperlipidemia, Hyperlipoproteinemia
ADRB3 2 / 15 Hyperlipidemia, Hyperlipoproteinemia
ANGPTL4 2 / 15 Hyperlipidemia, Hypertriglyceridemia
APC 2 / 15 Hyperlipidemia, Hyperlipoproteinemia
APOA2 2 / 15 Hypercholesterolemia, Hyperlipoproteinemia
APOA4 2 / 15 Hypercholesterolemia, Hyperlipoproteinemia
APOC1 2 / 15 Hyperlipidemia, Lipoprotein lipase deficiency
CCL2 2 / 15 Hyperlipidemia, Hyperlipoproteinemia
CELSR2 2 / 15 Hyperlipidemia, Lipoprotein lipase deficiency
CREB3L3 2 / 15 Hypertriglyceridemia, Infantile hypertriglyceridemia with hepatosteatosis
CYP7A1 2 / 15 Hypercholesterolemia, Hyperlipidemia
DOCK7 2 / 15 Hyperlipidemia, Lipoprotein lipase deficiency
EPHX2 2 / 15 Hypercholesterolemia, Hyperlipoproteinemia
FADS1 2 / 15 Hyperlipidemia, Lipoprotein lipase deficiency
FADS2 2 / 15 Hyperlipidemia, Lipoprotein lipase deficiency
GCG 2 / 15 Hyperlipidemia, Hyperlipoproteinemia
GHR 2 / 15 Hypercholesterolemia, Hyperlipoproteinemia
GNB3 2 / 15 Hyperlipidemia, Hyperlipoproteinemia
GPD1 2 / 15 Hypertriglyceridemia, Infantile hypertriglyceridemia with hepatosteatosis
HAVCR1 2 / 15 Hyperlipidemia, Hypertriglyceridemia
HSPA1B 2 / 15 Hyperlipidemia, Hyperlipoproteinemia
IRS1 2 / 15 Hyperlipidemia, Hyperlipoproteinemia
LMX1B 2 / 15 Hyperlipidemia, Hyperlipoproteinemia
LPA 2 / 15 Hypercholesterolemia, Hyperlipidemia
MLXIPL 2 / 15 Hyperlipidemia, Lipoprotein lipase deficiency
NAT2 2 / 15 Hyperlipidemia, Lipoprotein lipase deficiency
NOS3 2 / 15 Hyperlipidemia, Hyperlipoproteinemia
NR5A2 2 / 15 Anovulation, Dyslipidemias
NYAP2 2 / 15 Hyperlipidemia, Lipoprotein lipase deficiency
PDE1C 2 / 15 Hypercholesterolemia, Hyperlipoproteinemia
PON1 2 / 15 Hypercholesterolemia, Hyperlipoproteinemia
PON2 2 / 15 Hypercholesterolemia, Hyperlipoproteinemia
PPARGC1B 2 / 15 Hyperlipidemia, Hyperlipoproteinemia
PPP1R17 2 / 15 Hypercholesterolemia, Hyperlipoproteinemia
PSD3 2 / 15 Hyperlipidemia, Lipoprotein lipase deficiency
SMARCA4 2 / 15 Hyperlipidemia, Lipoprotein lipase deficiency
TOMM40 2 / 15 Dyslipidemias, Hyperlipidemia
VEGFA 2 / 15 Hyperlipidemia, Lipoprotein lipase deficiency
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 ⇵
Cholesterol metabolism
APOC2, LDLR, LPL, PLTP, APOB, LDLRAP1, PCSK9, ABCG8, ANGPTL4, APOC1, APOE, CYP7A1
 KEGG 23 / 51 25.1× 2.82e-27 5.82e-24 ✓ sig.
Chylomicron remodeling
APOC2, LPL, APOA5, APOB, APOE, APOA1, APOA2, APOC3, GPIHBP1
 Reactome 9 / 9 55.6× 1.67e-16 6.63e-14 ✓ sig.
Chylomicron assembly
APOC2, APOB, APOE, APOA1, APOA2, APOC3, MTTP
 Reactome 7 / 9 43.2× 1.93e-11 3.03e-9 ✓ sig.
Chylomicron clearance
LDLR, APOB, LDLRAP1, APOE, LIPC
 Reactome 5 / 5 55.6× 1.80e-9 1.78e-7 ✓ sig.
Fat digestion and absorption
APOB, ABCG8, PLA2G12B, ABCA1, ABCG5, APOA1, APOA4, MTTP, NPC1L1, SCARB1
 KEGG 10 / 43 12.9× 3.28e-9 3.10e-7 ✓ sig.
HDL remodeling
APOC2, PLTP, APOE, CETP, APOA1, APOC3
 Reactome 6 / 10 33.4× 6.25e-9 5.49e-7 ✓ sig.
Lipid and atherosclerosis
LDLR, PPARG, APOB, ABCA1, ICAM1, NCF1, NOX1, SELE, VCAM1, APOA1, APOA4, CCL2
 KEGG 18 / 216 4.6× 6.54e-8 4.38e-6 ✓ sig.
Bile secretion
LDLR, ABCG8, CYP7A1, HMGCR, BAAT, EPHX1, SLC10A1, ABCG5, ABCB1, SCARB1, UGT2B15, UGT2B17
 KEGG 12 / 90 7.4× 6.74e-8 4.50e-6 ✓ sig.
PPAR signaling pathway
LPL, PLTP, PPARA, PPARG, APOA5, ANGPTL4, CYP7A1, FADS2, APOA1, APOA2, APOC3
 KEGG 11 / 76 8.0× 1.02e-7 6.41e-6 ✓ sig.
PPARA activates gene expression
PEX11A, PPARA, PPARG, APOA5, ANGPTL4, CYP7A1, HMGCR, FADS1, ABCA1, SREBF2, APOA1, APOA2
 Reactome 13 / 115 6.3× 1.39e-7 8.45e-6 ✓ sig.
NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
APOC2, PLTP, ABCG8, APOC1, APOE, CETP, ABCA1, ABCG5
 Reactome 8 / 37 12.0× 2.37e-7 1.33e-5 ✓ sig.
Retinoid metabolism and transport
APOC2, LPL, APOB, APOE, APOA1, APOA2, APOC3, GPIHBP1
 Reactome 8 / 41 10.8× 5.51e-7 2.79e-5 ✓ sig.
Assembly of active LPL and LIPC lipase complexes
LPL, ANGPTL4, LIPC, GPIHBP1, LMF1
 Reactome 5 / 11 25.3× 7.60e-7 3.68e-5 ✓ sig.
AGE-RAGE signaling pathway in diabetic complications
VEGFA, COL3A1, EDN1, ICAM1, NOX1, SELE, VCAM1, CCL2, JAK2, NOS3, AKT1
 KEGG 11 / 101 6.1× 1.90e-6 8.08e-5 ✓ sig.
Type I diabetes mellitus
HLA-C, HLA-DQA1, HLA-DRA, HLA-DRB1, HLA-DQB1, FASLG, INS
 KEGG 7 / 44 8.8× 1.20e-5 3.80e-4 ✓ 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 ⇵
cholesterol homeostasis
NR5A2, APOC2, LDLR, LPL, APOA5, APOB, LDLRAP1, PCSK9, ABCG8, APOE, CYP7A1, LIPC
 GO:0042632 28 / 112 21.6× 8.12e-30 4.41e-26 ✓ sig.
triglyceride homeostasis
APOC2, LPL, APOA5, ABCG8, ANGPTL4, APOC1, APOE, GCKR, LIPC, MLXIPL, CETP, PLA2G12B
 GO:0070328 18 / 38 41.0× 1.81e-25 6.59e-22 ✓ sig.
cholesterol metabolic process
LDLR, LEPR, APOA5, APOB, LDLRAP1, PCSK9, APOC1, APOE, CYP7A1, HMGCR, LIPC, CETP
 GO:0008203 22 / 107 17.8× 1.34e-21 2.70e-18 ✓ sig.
lipoprotein metabolic process
LDLR, PPARA, APOA5, APOB, PCSK9, APOC1, APOE, ABCA1, APOA1, APOA2, APOA4, APOC3
 GO:0042157 14 / 26 46.6× 4.25e-21 7.92e-18 ✓ sig.
reverse cholesterol transport
APOC2, APOE, LIPC, CETP, ABCA1, CES1, APOA1, APOA2, APOA4, APOC3, SCARB1
 GO:0043691 11 / 17 56.0× 4.44e-18 5.11e-15 ✓ sig.
cholesterol efflux
APOC2, APOA5, APOB, ABCG8, APOC1, APOE, ABCA1, ABCG5, APOA1, APOA2, APOA4, APOC3
 GO:0033344 13 / 31 36.3× 7.85e-18 8.84e-15 ✓ sig.
high-density lipoprotein particle remodeling
LPL, PLTP, APOC1, APOE, LIPC, CETP, APOA1, APOA2, APOA4, APOC3, SCARB1
 GO:0034375 11 / 21 45.3× 1.21e-16 1.14e-13 ✓ sig.
phospholipid efflux
APOC2, APOA5, APOC1, APOE, ABCA1, APOA1, APOA2, APOA4, APOC3
 GO:0033700 9 / 13 59.9× 2.14e-15 1.56e-12 ✓ sig.
lipid transport
APOC2, LDLR, PLTP, APOA5, APOB, ABCG8, APOC1, APOE, CERT1, LPA, CETP, SLC10A1
 GO:0006869 21 / 189 9.6× 5.66e-15 3.86e-12 ✓ sig.
lipid metabolic process
APOC2, LDLR, LPL, PLTP, PPARA, APOB, LDLRAP1, PCSK9, ALDH1A2, ANGPTL4, APOC1, APOE
 GO:0006629 40 / 840 4.1× 1.72e-14 1.08e-11 ✓ sig.
very-low-density lipoprotein particle remodeling
APOC2, LPL, APOE, LIPC, APOH, CETP, APOA4
 GO:0034372 7 / 8 75.7× 1.98e-13 1.03e-10 ✓ sig.
cholesterol transport
LDLR, APOB, LDLRAP1, LIPC, CETP, ABCA1, APOA1, APOA2, NPC1L1, SCARB1
 GO:0030301 10 / 28 30.9× 3.78e-13 1.85e-10 ✓ sig.
triglyceride metabolic process
LPL, APOA5, PCSK9, APOC1, APOE, CETP, APOA2, APOC3, MTTP, INSIG2, LMF1
 GO:0006641 11 / 39 24.4× 4.81e-13 2.32e-10 ✓ sig.
chylomicron remnant clearance
APOC2, APOC1, APOE, LIPC, APOC3, LMF1
 GO:0034382 6 / 6 86.5× 2.23e-12 9.40e-10 ✓ sig.
high-density lipoprotein particle clearance
APOC2, LDLR, APOE, APOA1, APOA2, SCARB1
 GO:0034384 6 / 7 74.2× 1.54e-11 5.48e-9 ✓ sig.

Pairs within this cluster, by significance

Disease A ⇵ Disease B ⇵ Similarity score ⇵ Shared genes ⇵ P-value ⇵ FDR q-value ⇵
Hyperlipidemia Hyperlipoproteinemia 0.182 28 2.52e-49 1.30e-47 ✓ sig.
Hyperlipidemia Lipoprotein lipase deficiency 0.147 22 1.43e-39 5.92e-38 ✓ sig.
Hypercholesterolemia Hyperlipoproteinemia 0.279 19 1.78e-39 7.31e-38 ✓ sig.
Hyperlipidemia Hypertriglyceridemia 0.069 11 4.80e-16 7.31e-15 ✓ sig.
Hypertriglyceridemia Lipoprotein lipase deficiency 0.135 7 5.77e-14 7.62e-13 ✓ sig.
Hyperlipoproteinemia Lipoprotein lipase deficiency 0.109 7 8.94e-13 1.08e-11 ✓ sig.
Dyslipidemias Hyperlipoproteinemia 0.093 5 7.63e-10 6.98e-9 ✓ sig.
Hyperlipoproteinemia Hypertriglyceridemia 0.078 5 8.59e-9 6.93e-8 ✓ sig.
Hypertriglyceridemia Infantile hypertriglyceridemia with hepatosteatosis 0.069 2 3.19e-6 1.71e-5 ✓ sig.
Dyslipidemias Hypertriglyceridemia 0.068 3 4.31e-6 2.27e-5 ✓ sig.
Anovulation Dyslipidemias 0.053 1 1.17e-3 1.89e-3 ✓ sig.
Dyslipidemias hypercholesterolemia, familial, 1 0.053 1 1.17e-3 1.89e-3 ✓ sig.
Apolipoprotein a5 deficiency Hypertriglyceridemia 0.034 1 1.82e-3 2.68e-3 ✓ sig.
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies Hypertriglyceridemia 0.034 1 1.82e-3 2.68e-3 ✓ sig.
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies Lipoprotein lipase deficiency 0.032 1 1.95e-3 2.83e-3 ✓ sig.
congenital disorder of glycosylation, type iit Lipoprotein lipase deficiency 0.032 1 1.95e-3 2.83e-3 ✓ sig.
hypercholesterolemia, familial, 1 Lipoprotein lipase deficiency 0.032 1 1.95e-3 2.83e-3 ✓ sig.
Apolipoprotein a5 deficiency Lipoprotein lipase deficiency 0.032 1 1.95e-3 2.83e-3 ✓ sig.
hypercholesterolemia, familial, 1 Hyperlipoproteinemia 0.024 1 2.60e-3 3.51e-3 ✓ sig.
hypercholesterolemia, familial, 4 Hyperlipoproteinemia 0.024 1 2.60e-3 3.51e-3 ✓ sig.
Apolipoprotein c-ii deficiency Hyperlipoproteinemia 0.024 1 2.60e-3 3.51e-3 ✓ sig.
Apolipoprotein a5 deficiency Hyperlipoproteinemia 0.024 1 2.60e-3 3.51e-3 ✓ sig.
Hypercholesterolemia hypercholesterolemia, familial, 4 0.021 1 2.99e-3 3.95e-3 ✓ sig.
Congenital disorder of deglycosylation Dyslipidemias 0.048 1 3.50e-3 4.52e-3 ✓ sig.
Congenital disorder of deglycosylation Hyperlipoproteinemia 0.023 1 7.77e-3 9.06e-3 ✓ sig.
congenital disorder of glycosylation, type iit Hyperlipidemia 0.007 1 9.16e-3 1.05e-2 ✓ sig.
Apolipoprotein c-ii deficiency Hyperlipidemia 0.007 1 9.16e-3 1.05e-2 ✓ sig.
Apolipoprotein a5 deficiency Hyperlipidemia 0.007 1 9.16e-3 1.05e-2 ✓ sig.