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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
Autoinflammatory syndrome Cold autoinflammatory syndrome
3 genes
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3 of 3 corroborated by 2+ sources
NLRP3(5), NLRP12(4), NLRC4(3)
0.073 0.500 2.54e-7 1.66e-6 ✓ sig. —
Paroxysmal familial ventricular fibrillation Right ventricular cardiomyopathy
2 genes
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DSP(1), LMNA(1)
0.286 0.667 2.53e-7 1.65e-6 ✓ sig. —
Cyanosis Hemoglobin f disease
2 genes
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2 of 2 corroborated by 2+ sources
HBB(2), HBG2(4)
0.286 0.667 2.53e-7 1.65e-6 ✓ sig. Cluster 19 →
3mc syndrome Oculopalatosekeletal syndrome
2 genes
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2 of 2 corroborated by 2+ sources
COLEC11(3), MASP1(4)
0.286 0.667 2.53e-7 1.65e-6 ✓ sig. Cluster 353 →
Long qt syndrome, digenic Torsades de pointes
2 genes
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2 of 2 corroborated by 2+ sources
KCNH2(2), SCN5A(2)
0.286 0.667 2.53e-7 1.65e-6 ✓ sig. —
Malpuech facial clefting syndrome Oculopalatosekeletal syndrome
2 genes
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1 of 2 corroborated by 2+ sources
COLEC11(1), MASP1(2)
0.286 0.667 2.53e-7 1.65e-6 ✓ sig. Cluster 353 →
Episodic kinesigenic dyskinesia Paroxysmal dyskinesia
2 genes
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2 of 2 corroborated by 2+ sources
PRRT2(6), KCNA1(2)
0.286 0.667 2.53e-7 1.65e-6 ✓ sig. Cluster 58 →
Estrogen resistance Male breast carcinoma
2 genes
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2 of 2 corroborated by 2+ sources
ESR1(6), CCDC170(2)
0.286 0.667 2.53e-7 1.65e-6 ✓ sig. —
familial sleep-related hypermotor epilepsy Frontal lobe epilepsy
2 genes
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2 of 2 corroborated by 2+ sources
CHRNB2(3), CHRNA4(3)
0.286 0.667 2.53e-7 1.65e-6 ✓ sig. Cluster 273 →
Bone osteosarcoma Li-fraumeni syndrome
2 genes
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2 of 2 corroborated by 2+ sources
CHEK2(5), TP53(7)
0.286 0.667 2.53e-7 1.65e-6 ✓ sig. Cluster 3 →
Carnevale syndrome Oculopalatosekeletal syndrome
2 genes
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2 of 2 corroborated by 2+ sources
COLEC11(2), MASP1(2)
0.286 0.667 2.53e-7 1.65e-6 ✓ sig. Cluster 353 →
Caudal regression syndrome Neural tube defects, susceptibility to
2 genes
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2 of 2 corroborated by 2+ sources
FUZ(4), VANGL1(4)
0.286 0.667 2.53e-7 1.65e-6 ✓ sig. Cluster 94 →
Chilblain lupus erythematosus Retinal vasculopathy with cerebral leukodystrophy
2 genes
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1 of 2 corroborated by 2+ sources
TREX1(5), ATRIP(1)
0.286 0.667 2.53e-7 1.65e-6 ✓ sig. Cluster 150 →
Anhedonia Hyperkinesia
4 genes
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4 of 4 corroborated by 2+ sources
DISC1(2), DRD2(2), SLC6A3(2), CRHR1(2)
0.071 0.154 2.53e-7 1.65e-6 ✓ sig. —
Congenital nonspherocytic hemolytic anemia Contact dermatitis
4 genes
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4 of 4 corroborated by 2+ sources
GSS(3), GCLC(3), GSR(3), G6PD(6)
0.048 0.333 2.49e-7 1.64e-6 ✓ sig. —
Exudative vitreoretinopathy Polycystic liver disease
3 genes
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3 of 3 corroborated by 2+ sources
CTNNB1(4), LRP6(2), LRP5(7)
0.100 0.333 2.43e-7 1.59e-6 ✓ sig. —
Congenital impairment of spermatozoa motility primary ciliary dyskinesia
3 genes
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3 of 3 corroborated by 2+ sources
SPEF2(2), CFAP43(2), DNAH1(2)
0.100 0.333 2.43e-7 1.59e-6 ✓ sig. —
Dyslexia Post-traumatic stress disorder
11 genes
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2 of 11 corroborated by 2+ sources
FOXP2(2), MAPT(1), RBFOX1(1), SEMA3F(1), FAM120A(1), SGCD(1), CD276(1), INSYN1(1), SP4(2), ZDHHC21(1), KMT2E(1)
0.036 0.099 2.39e-7 1.57e-6 ✓ sig. —
Arthritis Pemphigus
3 genes
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2 of 3 corroborated by 2+ sources
HLA-DQA1(2), HLA-DQB1(2), CD40(1)
0.094 0.375 2.38e-7 1.56e-6 ✓ sig. Cluster 1 →
Arteriovenous malformations Capillary malformation-arteriovenous malformation
2 genes
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2 of 2 corroborated by 2+ sources
KRAS(2), RASA1(6)
0.222 1.000 2.36e-7 1.55e-6 ✓ sig. Cluster 40 →
Auricle malformation Ovarian agenesis
2 genes
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DIPK1A(1), RPL5(1)
0.222 1.000 2.36e-7 1.55e-6 ✓ sig. Cluster 236 →
Auricle malformation Erythroid hypoplasia
2 genes
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DIPK1A(1), RPL5(1)
0.222 1.000 2.36e-7 1.55e-6 ✓ sig. Cluster 236 →
Benign hypercalcemia Calcium metabolism disorders
2 genes
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1 of 2 corroborated by 2+ sources
AP2S1(2), CASR(1)
0.222 1.000 2.36e-7 1.55e-6 ✓ sig. —
Visual impairment Visual system disorder
2 genes
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EFEMP1(1), PNPT1(1)
0.222 1.000 2.36e-7 1.55e-6 ✓ sig. Cluster 146 →
Retinopathy background Vitreoretinal degeneration
2 genes
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ABCA4(1), LRP5(1)
0.222 1.000 2.36e-7 1.55e-6 ✓ sig. —

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