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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.
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Disease A ⇵Disease B ⇵Shared genes ⇵Similarity score ⇵Overlap coefficient ⇵P-value ⇵FDR q-value ▲ Shared cluster
Congenital insensitivity to pain Erythromelalgia
3 genes
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1 of 3 corroborated by 2+ sources
SCN10A(1), SCN11A(1), SCN9A(5)
0.429 1.000 3.29e-11 3.41e-10 ✓ sig. Cluster 164 →
Hemoglobin m disease Methemoglobinemia
3 genes
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3 of 3 corroborated by 2+ sources
HBA1(7), HBA2(3), HBB(7)
0.429 1.000 3.29e-11 3.41e-10 ✓ sig. Cluster 72 →
Cerebellar ataxia, impaired intellectual development, and dysequilibrium Cerebellar ataxia, intellectual disability, and dysequilibrium
3 genes
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3 of 3 corroborated by 2+ sources
WDR81(4), VLDLR(4), ATP8A2(3)
0.429 1.000 3.29e-11 3.41e-10 ✓ sig. Cluster 317 →
Cerebellar ataxia, impaired intellectual development, and dysequilibrium Dysequilibrium syndrome
3 genes
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3 of 3 corroborated by 2+ sources
WDR81(3), VLDLR(4), ATP8A2(4)
0.429 1.000 3.29e-11 3.41e-10 ✓ sig. Cluster 317 →
Congenital ocular coloboma Microphthalmia
6 genes
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6 of 6 corroborated by 2+ sources
RARB(7), PAX6(2), RAX(3), RBP4(5), MAB21L2(3), FZD5(4)
0.102 0.231 3.32e-11 3.44e-10 ✓ sig. —
Panhypopituitarism Septo-optic dysplasia
5 genes
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5 of 5 corroborated by 2+ sources
SOX3(6), HESX1(5), PROKR2(3), OTX2(2), FGFR1(3)
0.102 0.500 3.33e-11 3.46e-10 ✓ sig. —
Aortic valve disease Heart valve disease
8 genes
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3 of 8 corroborated by 2+ sources
NOTCH1(4), FADS1(1), FADS2(1), MECOM(1), LPA(1), COL1A1(2), TIMP1(2), CEP85L(1)
0.070 0.195 3.42e-11 3.54e-10 ✓ sig. —
Bladder calculus Kidney and ureter calculus
4 genes
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4 of 4 corroborated by 2+ sources
CASR(2), RGS14(2), SLC34A1(2), CYP24A1(2)
0.100 1.000 3.51e-11 3.64e-10 ✓ sig. —
Atrial septal defect Atrioventricular septal defect
5 genes
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2 of 5 corroborated by 2+ sources
GATA4(6), FOXP1(1), TBX5(1), CHD7(1), GATA6(7)
0.116 0.417 3.53e-11 3.65e-10 ✓ sig. —
Gastroesophageal reflux disease Irritable bowel syndrome
18 genes
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CELF4(1), CNTNAP2(1), DCC(1), ERBB4(1), FOXP2(1), H3C12(1), HLA-C(1), MECOM(1), SHISA6(1), SORCS3(1), TCF4(1), SMG6(1) +6 more
0.045 0.134 3.57e-11 3.70e-10 ✓ sig. Cluster 2 →
Genetic predisposition to disease Pulmonary fibrosis
9 genes
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9 of 9 corroborated by 2+ sources
CAT(2), TERT(3), ACE(2), IL1B(2), SOD1(2), EGF(2), OGG1(2), MT2A(2), TGFA(2)
0.061 0.188 3.59e-11 3.72e-10 ✓ sig. —
Epidermolysis bullosa Other epidermolysis bullosa
4 genes
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3 of 4 corroborated by 2+ sources
PLEC(8), LAMB3(1), ITGB4(5), ITGA6(2)
0.167 0.667 3.83e-11 3.96e-10 ✓ sig. —
Intrahepatic cholestasis Progressive intrahepatic cholestasis
4 genes
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4 of 4 corroborated by 2+ sources
ATP8B1(4), TJP2(2), ABCB11(3), ABCB4(5)
0.211 0.444 3.84e-11 3.96e-10 ✓ sig. Cluster 319 →
Maturity-onset diabetes of the young Transient neonatal diabetes mellitus
4 genes
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4 of 4 corroborated by 2+ sources
INS(3), ABCC8(6), KCNJ11(5), GCK(3)
0.211 0.444 3.84e-11 3.96e-10 ✓ sig. Cluster 36 →
Neuropathy, ataxia, and retinitis pigmentosa Optic neuropathy
4 genes
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1 of 4 corroborated by 2+ sources
ND1(1), ATP6(2), ATP8(1), ND4(1)
0.211 0.444 3.84e-11 3.96e-10 ✓ sig. Cluster 32 →
Hypercalcemia Hypercalciuria
4 genes
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4 of 4 corroborated by 2+ sources
PTH(2), KL(2), SLC34A1(2), CYP24A1(2)
0.211 0.444 3.84e-11 3.96e-10 ✓ sig. Cluster 262 →
Bullous pemphigoid Henoch schoenlein purpura
5 genes
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3 of 5 corroborated by 2+ sources
0.135 0.278 3.95e-11 4.07e-10 ✓ sig. Cluster 1 →
Bronchiectasis Cystic fibrosis
6 genes
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6 of 6 corroborated by 2+ sources
SERPINA1(3), TNF(2), SCNN1A(6), CFTR(7), SCNN1B(6), SCNN1G(5)
0.081 0.353 3.97e-11 4.10e-10 ✓ sig. —
Asbestosis Cystic fibrosis
6 genes
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4 of 6 corroborated by 2+ sources
SERPINA1(3), GSTT1(2), IL1B(2), TNF(2), EPHX1(1), GSTM1(1)
0.081 0.353 3.97e-11 4.10e-10 ✓ sig. —
Pancreatic neoplasms Renal cell carcinoma
13 genes
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HNF1B(1), PTEN(1), TP53(1), INPP4B(1), SOD2(1), PTGS2(1), BSG(1), IFNA2(1), ALOX5(1), TNFSF10(1), ALOX12B(1), TGM2(1) +1 more
0.053 0.111 4.16e-11 4.29e-10 ✓ sig. Cluster 5 →
Febrile convulsion Rolandic epilepsy
6 genes
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2 of 6 corroborated by 2+ sources
CPA6(5), GABRG2(5), SCN1A(1), SCN1B(1), SCN2A(1), SCN9A(1)
0.094 0.273 4.18e-11 4.30e-10 ✓ sig. Cluster 47 →
Hashimoto disease Myasthenia gravis
6 genes
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4 of 6 corroborated by 2+ sources
FAM76B(1), HLA-DQA1(2), HLA-DRB1(2), ATXN2(1), CTLA4(3), PTPN22(2)
0.100 0.222 4.26e-11 4.38e-10 ✓ sig. —
Hypertrophy Pulmonary fibrosis
9 genes
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9 of 9 corroborated by 2+ sources
ACE(2), AGT(2), CSF3(2), COL3A1(2), FN1(2), EDN1(2), CMA1(2), MTOR(2), TGFA(2)
0.061 0.184 4.38e-11 4.50e-10 ✓ sig. —
Eye disease Hyperopia
10 genes
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RBFOX1(1), SHISA6(1), KCNQ5(1), PRSS56(1), C14orf39(1), RASGEF1B(1), LAMA2(1), GJD2(1), RDH5(1), RGR(1)
0.061 0.127 4.49e-11 4.61e-10 ✓ sig. —
Sebaceous gland disease Seborrheic keratosis
5 genes
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RALY(1), IRF4(1), TYR(1), DEF8(1), SLC45A2(1)
0.122 0.357 4.66e-11 4.79e-10 ✓ sig. —

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