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What do these columns mean?
Shared genes
Curated genes linked to both diseases (disease_gdp). The line below it shows how many of those are "corroborated" -- backed by 2+ independent database sources combined across both diseases, not resting on a single source's say-so.
Similarity score
Jaccard-based: shared genes ÷ the union of both diseases' entire gene sets, with a small boost from users who bookmarked both diseases. Treats both diseases symmetrically.
Overlap coefficient
Shared genes ÷ the smaller disease's own total gene count. Complements the similarity score above for asymmetric pairs -- e.g. a rare disease almost entirely "contained" in a common disease's much larger gene set scores low on Jaccard but high here.
P-value / FDR q-value
Is this gene overlap more than chance? An upper-tail hypergeometric test, Benjamini-Hochberg corrected across every tested pair (the q-value is the one that accounts for testing thousands of pairs at once -- prefer it over the raw p-value).
Shared cluster
Links to a multi-disease cluster (see Disease Clusters) if both diseases of this pair were independently grouped together by that separate analysis.
ⓘ Shows only pairs whose gene overlap is too large to be down to chance (FDR q-value below 0.05). These are the rows marked ✓ sig. in the table. ⓘ Shows only pairs where both diseases also belong to the same group on the Disease Clusters page. Two separate analyses agree they're related, so the link is stronger. These are the rows with a link in the Shared cluster column.
0 selected Clear
Disease A ⇵Disease B ⇵Shared genes ⇵Similarity score ⇵Overlap coefficient ⇵P-value ⇵FDR q-value ▲ Shared cluster
Congenital hypothyroidism Congenital hypothyroidism without goiter
6 genes
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4 of 6 corroborated by 2+ sources
TSHR(3), NKX2-5(2), THRA(1), PAX8(2), TSHB(1), IGSF1(2)
0.400 1.000 1.62e-19 3.00e-18 ✓ sig. Cluster 88 →
Cytochrome c oxidase deficiency Leigh syndrome
11 genes
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11 of 11 corroborated by 2+ sources
LRPPRC(5), SCO2(5), SCO1(4), COX15(5), SURF1(6), PET100(2), COX10(5), TACO1(4), COX4I1(2), COX8A(2), PET117(2)
0.094 0.550 1.72e-19 3.17e-18 ✓ sig. Cluster 50 →
Carcinoma Stomach neoplasms
29 genes
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SOX9(1), TP53(1), BCL2L1(1), EGFR(1), RHOA(1), ENO1(1), GSTP1(1), SOD2(1), STAT3(1), FHIT(1), PTGS2(1), DNMT3B(1) +17 more
0.065 0.176 1.78e-19 3.28e-18 ✓ sig. Cluster 5 →
Carcinoma Lung neoplasms
27 genes
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SOX9(1), ACTB(1), PTEN(1), TP53(1), TP63(1), BCL2L1(1), EGFR(1), ESR1(1), GSTP1(1), GSTT1(1), STAT3(1), TLR4(1) +15 more
0.069 0.164 1.79e-19 3.29e-18 ✓ sig. Cluster 5 →
Pancreatic neoplasms Thyroid neoplasms
14 genes
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1 of 14 corroborated by 2+ sources
HNF1B(1), TERT(1), TP53(1), MSH6(2), PPARG(1), TNF(1), PTGS2(1), HIF1A(1), CTNNB1(1), KLF5(1), IFNA2(1), KRAS(1) +2 more
0.093 0.304 1.88e-19 3.46e-18 ✓ sig. Cluster 5 →
X-linked intellectual disability X-linked syndromic intellectual disability
8 genes
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8 of 8 corroborated by 2+ sources
CASK(4), ZC4H2(2), RPL10(4), BRWD3(2), LAS1L(2), NONO(2), DDX3X(4), USP9X(4)
0.107 1.000 1.93e-19 3.55e-18 ✓ sig. —
Congenital heart disease Ventricular septal defect
15 genes
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11 of 15 corroborated by 2+ sources
TBX1(1), GATA4(3), NKX2-6(3), TBX5(1), BMP7(1), NFATC1(2), GATA5(4), TBX20(3), NKX2-5(3), COL1A2(2), ISL1(3), CITED2(6) +3 more
0.075 0.357 2.15e-19 3.95e-18 ✓ sig. —
Congenital nonbullous ichthyosiform erythroderma Ichthyosis
7 genes
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6 of 7 corroborated by 2+ sources
TGM1(2), ABCA12(2), ALOX12B(2), ALOXE3(2), PNPLA1(2), CERS3(2), UGCG(1)
0.318 0.583 2.22e-19 4.08e-18 ✓ sig. Cluster 233 →
Hypertensive heart disease Hypertensive nephropathy
7 genes
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PRKAG2(1), SCARB1(1), TCF7L2(1), APOL1(1), FTO(1), PDILT(1), DCDC1(1)
0.292 0.700 2.28e-19 4.19e-18 ✓ sig. —
Hyperinsulinemic hypoglycemia Hyperinsulinism
8 genes
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7 of 8 corroborated by 2+ sources
HADH(6), INSR(6), ABCC8(7), SLC16A1(3), KCNJ11(6), GCK(5), GLUD1(3), SHLD2(1)
0.174 0.727 2.47e-19 4.54e-18 ✓ sig. Cluster 36 →
Bradycardia Catalepsy
8 genes
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8 of 8 corroborated by 2+ sources
AGT(2), TRH(2), GCG(2), PRL(2), POMC(2), DRD2(2), ADORA1(2), NTS(2)
0.229 0.500 2.55e-19 4.67e-18 ✓ sig. Cluster 13 →
Muscular dystrophy Walker-warburg syndrome
9 genes
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9 of 9 corroborated by 2+ sources
DAG1(3), GMPPB(2), LARGE1(3), CRPPA(3), POMT1(3), POMT2(3), POMGNT1(3), FKRP(3), FKTN(3)
0.153 0.563 2.56e-19 4.68e-18 ✓ sig. Cluster 14 →
Nuclear cataract Posterior subcapsular cataract
7 genes
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7 of 7 corroborated by 2+ sources
CRYBB2(2), EPHA2(3), CRYAB(3), UNC45B(3), MIP(3), CRYBA1(3), GJA3(3)
0.304 0.636 2.58e-19 4.71e-18 ✓ sig. Cluster 43 →
Attention deficit hyperactivity disorder Central nervous system cancer
114 genes
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6 of 114 corroborated by 2+ sources
TEAD1(1), AKAP6(1), ANK3(1), ANO4(1), C6orf118(1), CACNA2D3(1), CDKAL1(1), CSMD1(1), CTNNA3(1), CUX1(1), DCC(1), DGKI(1) +102 more
0.069 0.174 2.65e-19 4.83e-18 ✓ sig. —
Blood coagulation disorder Thrombophilia
9 genes
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5 of 9 corroborated by 2+ sources
F2(6), MTHFR(3), ABO(1), SLC19A2(1), F5(6), PROC(6), ATP1B1(1), FGG(3), NME7(1)
0.188 0.375 2.69e-19 4.90e-18 ✓ sig. Cluster 55 →
Hereditary steroid-resistant nephrotic syndrome Steroid-resistant nephrotic syndrome
8 genes
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8 of 8 corroborated by 2+ sources
WT1(2), COL4A3(2), PAX2(2), APOL1(2), CRB2(2), NPHS2(2), AVIL(2), NPHS1(2)
0.200 0.615 2.96e-19 5.41e-18 ✓ sig. —
Microphthalmia Nanophthalmos
8 genes
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7 of 8 corroborated by 2+ sources
PRSS56(4), SOX2(4), SIX6(4), OTX2(4), RAX(4), ALDH1A3(4), MFRP(6), C1QTNF5(1)
0.186 0.667 3.07e-19 5.60e-18 ✓ sig. Cluster 56 →
Periventricular heterotopia, x-linked Periventricular nodular heterotopia
6 genes
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6 of 6 corroborated by 2+ sources
ARFGEF2(3), FLNA(7), MAP1B(6), NEDD4L(6), ARF1(6), ERMARD(8)
0.429 0.857 3.50e-19 6.37e-18 ✓ sig. —
Clonal hematopoiesis Myeloproliferative disorder
12 genes
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2 of 12 corroborated by 2+ sources
CHEK2(1), RUNX1(1), TERT(2), PARP1(1), HBS1L(1), JAK2(2), CYRIA(1), ATM(1), STN1(1), DLK1(1), TCL1A(1), TUNAR(1)
0.122 0.226 3.62e-19 6.58e-18 ✓ sig. Cluster 53 →
Omenn syndrome Severe combined immunodeficiency
8 genes
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7 of 8 corroborated by 2+ sources
LIG4(3), IL7R(4), ADA(7), RAG1(6), IL2RG(4), IFTAP(1), RAG2(6), DCLRE1C(7)
0.148 0.800 3.64e-19 6.62e-18 ✓ sig. —
Bone fragility with contractures, arterial rupture, and deafness Larsen syndrome
9 genes
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3 of 9 corroborated by 2+ sources
GORAB(1), XYLT1(1), P4HA1(1), CHST3(3), XYLT2(1), B3GALT6(1), B3GAT3(5), B4GALT7(1), PLOD3(3)
0.155 0.529 3.66e-19 6.65e-18 ✓ sig. Cluster 68 →
Larsen syndrome Osteoporosis-pseudoglioma syndrome
9 genes
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2 of 9 corroborated by 2+ sources
GORAB(1), XYLT1(1), P4HA1(1), CHST3(3), XYLT2(1), B3GALT6(1), B3GAT3(5), B4GALT7(1), PLOD3(1)
0.155 0.529 3.66e-19 6.65e-18 ✓ sig. Cluster 68 →
Cholecystolithiasis Crigler-najjar syndrome
9 genes
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9 of 9 corroborated by 2+ sources
UGT1A10(2), UGT1A8(2), UGT1A9(2), UGT1A1(7), UGT1A6(2), UGT1A3(2), UGT1A4(2), UGT1A5(2), UGT1A7(2)
0.063 1.000 3.73e-19 6.77e-18 ✓ sig. —
Estrogen-receptor negative breast cancer Triple negative breast cancer
16 genes
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TERT(1), TP53(1), CCDC91(1), MDM4(1), CDCA7(1), PTHLH(1), FGFR2(1), TNFSF10(1), MLLT10(1), C11orf65(1), ABHD8(1), CCDC170(1) +4 more
0.051 0.471 3.75e-19 6.78e-18 ✓ sig. Cluster 20 →
Combined pituitary hormone deficiency Pituitary hormone deficiency
6 genes
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6 of 6 corroborated by 2+ sources
HESX1(3), OTX2(5), LHX3(2), LHX4(5), POU1F1(6), PROP1(7)
0.462 0.667 3.81e-19 6.90e-18 ✓ sig. Cluster 218 →

Showing 25 of 20813 pairs, sorted by significance (ascending). Click a column header to sort.