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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
Thyroid neoplasms Transitional cell carcinoma
6 genes
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TP53(1), TNF(1), PTGS2(1), IFNA2(1), HRAS(1), CCND1(1)
0.081 0.182 5.28e-10 4.91e-9 ✓ sig. Cluster 5 →
hearing loss, autosomal recessive Isolated sensorineural deafness
5 genes
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5 of 5 corroborated by 2+ sources
TRIOBP(2), PTPRQ(2), PPIP5K2(2), TMEM132E(2), WBP2(2)
0.041 0.714 5.26e-10 4.89e-9 ✓ sig. —
Complex cortical dysplasia with other brain malformations Cortical development malformation
4 genes
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4 of 4 corroborated by 2+ sources
TUBG1(3), KIF5C(4), TUBB2B(4), KIF2A(3)
0.125 0.500 5.22e-10 4.86e-9 ✓ sig. Cluster 176 →
Essential thrombocythemia Myeloproliferative disorder
5 genes
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5 of 5 corroborated by 2+ sources
SH2B3(3), TP53(3), MPL(3), JAK2(4), CALR(3)
0.081 0.385 5.02e-10 4.67e-9 ✓ sig. Cluster 53 →
Dysarthria Spastic ataxia
6 genes
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CACNA1A(1), PNPLA6(1), HARS1(1), DNMT1(1), SEPSECS(1), SPG7(1)
0.069 0.273 5.00e-10 4.65e-9 ✓ sig. —
Congenital myasthenic syndrome Pena-shokeir syndrome
6 genes
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6 of 6 corroborated by 2+ sources
SCN4A(3), RAPSN(3), CHRND(3), MUSK(4), SLC18A3(3), DOK7(5)
0.079 0.207 4.93e-10 4.59e-9 ✓ sig. —
Polycystic liver disease Tubulointerstitial kidney disease
4 genes
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2 of 4 corroborated by 2+ sources
HNF1B(1), SEC61A1(3), SEC63(6), RUVBL1(1)
0.138 0.444 4.74e-10 4.42e-9 ✓ sig. Cluster 23 →
Urethral obstruction Ventricular remodeling
5 genes
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AGT(1), SMAD3(1), TGFB1(1), NPPB(1), NPPA(1)
0.106 0.200 4.74e-10 4.42e-9 ✓ sig. —
Constitutional mismatch repair deficiency Turcot syndrome
3 genes
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3 of 3 corroborated by 2+ sources
APC(3), PMS2(7), MLH1(7)
0.214 1.000 4.70e-10 4.39e-9 ✓ sig. Cluster 166 →
Atypical hemolytic uremic syndrome Macular and posterior pole degeneration
3 genes
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3 of 3 corroborated by 2+ sources
CFI(2), CD46(3), CFH(3)
0.214 1.000 4.70e-10 4.39e-9 ✓ sig. —
Erythrocytosis Polycythemia, primary familial and congenital
3 genes
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3 of 3 corroborated by 2+ sources
SH2B3(3), EPOR(3), JAK2(3)
0.214 1.000 4.70e-10 4.39e-9 ✓ sig. —
Erythrocytosis Familial polycythemia
3 genes
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3 of 3 corroborated by 2+ sources
SH2B3(3), EPOR(5), JAK2(3)
0.214 1.000 4.70e-10 4.39e-9 ✓ sig. —
Erythrocytosis Hemoglobin m disease
3 genes
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3 of 3 corroborated by 2+ sources
HBA1(6), HBA2(6), HBB(7)
0.214 1.000 4.70e-10 4.39e-9 ✓ sig. —
Hyperhomocysteinemia Malnutrition
3 genes
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3 of 3 corroborated by 2+ sources
MTHFR(2), CBS(2), MTR(2)
0.214 1.000 4.70e-10 4.39e-9 ✓ sig. Cluster 121 →
Digenic alport syndrome Steroid-resistant nephrotic syndrome
3 genes
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3 of 3 corroborated by 2+ sources
COL4A5(2), COL4A3(2), COL4A4(2)
0.214 1.000 4.70e-10 4.39e-9 ✓ sig. Cluster 49 →
Bronchopulmonary dysplasia Lung disease
8 genes
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3 of 8 corroborated by 2+ sources
GSTP1(1), GSTT1(1), IL1B(2), TNF(2), GSTM1(1), SFTPD(1), SFTPA1(1), SFTPB(2)
0.058 0.178 4.56e-10 4.27e-9 ✓ sig. Cluster 119 →
Barrett esophagus Digestive system disease
9 genes
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2 of 9 corroborated by 2+ sources
ALDH1A2(1), BCL3(1), CRTC1(1), FOXP1(2), KHDRBS2(1), DPP6(1), GAST(2), BARX1(1), GOLIM4(1)
0.057 0.125 4.49e-10 4.20e-9 ✓ sig. —
Amino acid metabolism disorder Urea cycle disorder
4 genes
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4 of 4 corroborated by 2+ sources
ASL(2), ARG1(3), NAGS(2), SLC25A15(2)
0.129 0.500 4.45e-10 4.17e-9 ✓ sig. —
Dental enamel hypoplasia Tooth agenesis
5 genes
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MSX2(1), ROBO1(1), CHCHD5(1), SMAD2(1), PAPOLG(1)
0.094 0.313 4.44e-10 4.17e-9 ✓ sig. —
Hyperthyroidism Multinodular goiter
6 genes
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NFIA(1), TG(1), FAM227B(1), PRDM11(1), FGF7(1), MICOS10(1)
0.079 0.214 4.41e-10 4.14e-9 ✓ sig. —
Urinary bladder cancer Urinary bladder neoplasms
10 genes
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10 of 10 corroborated by 2+ sources
FGFR3(3), TERT(2), TACC3(2), KRAS(2), PSCA(2), NAT2(2), RB1(2), HRAS(2), CLPTM1L(2), CCNE1(2)
0.050 0.152 4.39e-10 4.12e-9 ✓ sig. —
Rosacea Sebaceous gland disease
4 genes
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HERC2(1), IRF4(1), MC1R(1), SLC45A2(1)
0.160 0.286 4.26e-10 4.00e-9 ✓ sig. —
Cerebral hemorrhage Venous thrombosis
5 genes
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PLAU(1), PLAT(1), SERPINC1(1), KDR(1), F7(1)
0.106 0.227 4.24e-10 3.99e-9 ✓ sig. Cluster 55 →
Aplastic anemia Oral submucous fibrosis
5 genes
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3 of 5 corroborated by 2+ sources
GSTT1(1), TNF(2), GSTM1(1), TGFB1(2), IFNG(4)
0.104 0.250 4.24e-10 3.98e-9 ✓ sig. —
Neural tube defect Neural tube defects, susceptibility to
4 genes
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4 of 4 corroborated by 2+ sources
VANGL2(5), TBXT(3), FUZ(4), VANGL1(4)
0.080 0.800 4.15e-10 3.90e-9 ✓ sig. —

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