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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
Aortic rupture Intracranial aneurysm
2 genes
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2 of 2 corroborated by 2+ sources
MMP9(2), MMP2(2)
0.105 0.400 8.84e-6 4.39e-5 ✓ sig. —
Cerebral palsy Cerebral small vessel disease
2 genes
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1 of 2 corroborated by 2+ sources
COL4A2(2), COL4A1(1)
0.043 1.000 8.73e-6 4.34e-5 ✓ sig. Cluster 198 →
Cerebral palsy Vascular leukoencephalopathy
2 genes
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2 of 2 corroborated by 2+ sources
COL4A2(2), COL4A1(2)
0.043 1.000 8.73e-6 4.34e-5 ✓ sig. Cluster 198 →
Cerebral palsy Congenital porencephaly
2 genes
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COL4A2(1), COL4A1(1)
0.043 1.000 8.73e-6 4.34e-5 ✓ sig. Cluster 198 →
Cerebral palsy Posttraumatic porencephalic cyst of brain
2 genes
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COL4A2(1), COL4A1(1)
0.043 1.000 8.73e-6 4.34e-5 ✓ sig. Cluster 198 →
Aortic disease Ureteral calculi
2 genes
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2 of 2 corroborated by 2+ sources
CAT(2), SOD1(2)
0.091 0.500 8.64e-6 4.30e-5 ✓ sig. Cluster 285 →
Discordant ventriculoarterial connection Down syndrome
2 genes
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2 of 2 corroborated by 2+ sources
MTHFR(2), SLC19A1(2)
0.091 0.500 8.64e-6 4.30e-5 ✓ sig. Cluster 113 →
Down syndrome Neural tube defects, folate-sensitive
2 genes
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2 of 2 corroborated by 2+ sources
MTHFR(3), MTHFD1(2)
0.091 0.500 8.64e-6 4.30e-5 ✓ sig. —
Dravet syndrome Epilepsy of infancy with migrating focal seizures
2 genes
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2 of 2 corroborated by 2+ sources
SCN1A(4), SCN2A(2)
0.125 0.250 8.49e-6 4.23e-5 ✓ sig. —
Charge syndrome Rubinstein-taybi syndrome
2 genes
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1 of 2 corroborated by 2+ sources
KMT2D(1), EP300(6)
0.125 0.250 8.49e-6 4.23e-5 ✓ sig. —
Imperforate anus Penile hypospadia
2 genes
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GABRG3(1), TBXAS1(1)
0.125 0.250 8.49e-6 4.23e-5 ✓ sig. Cluster 103 →
Kabuki syndrome Rubinstein-taybi syndrome
2 genes
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1 of 2 corroborated by 2+ sources
KMT2D(8), KMT2A(1)
0.125 0.250 8.49e-6 4.23e-5 ✓ sig. —
Exudative vitreoretinopathy Osteosclerosis
2 genes
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2 of 2 corroborated by 2+ sources
CTNNB1(4), LRP5(6)
0.125 0.250 8.49e-6 4.23e-5 ✓ sig. —
Exudative vitreoretinopathy Vitreoretinal degeneration
2 genes
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2 of 2 corroborated by 2+ sources
LRP5(5), TSPAN12(5)
0.125 0.250 8.49e-6 4.23e-5 ✓ sig. —
Benign pemphigus Ruptured abdominal aortic aneurysm
2 genes
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ELN(1), EFEMP2(1)
0.125 0.250 8.49e-6 4.23e-5 ✓ sig. —
Hoyeraal hreidarsson syndrome Thyroid carcinoma
2 genes
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2 of 2 corroborated by 2+ sources
POT1(2), TINF2(3)
0.125 0.250 8.49e-6 4.23e-5 ✓ sig. —
Darier disease Ruptured abdominal aortic aneurysm
2 genes
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ELN(1), EFEMP2(1)
0.125 0.250 8.49e-6 4.23e-5 ✓ sig. —
Diabetes mellitus Polycystic ovary syndrome
16 genes
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8 of 16 corroborated by 2+ sources
HMGA2(1), INS(2), GIPR(2), BCL2(3), INSR(2), PPARG(3), THADA(1), FTO(1), TFRC(3), CYP1A1(1), CDK12(1), NEUROD2(1) +4 more
0.032 0.070 8.40e-6 4.19e-5 ✓ sig. —
Dilatation of pulmonary artery Pulmonary arterial hypertension
2 genes
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2 of 2 corroborated by 2+ sources
FBN1(2), BMPR2(5)
0.043 1.000 8.35e-6 4.17e-5 ✓ sig. —
Ovarian agenesis Pulmonary arterial hypertension
2 genes
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DIPK1A(1), RPL5(1)
0.043 1.000 8.35e-6 4.17e-5 ✓ sig. —
Curling ulcer Papilloma
2 genes
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2 of 2 corroborated by 2+ sources
PTGS2(2), TGFB1(2)
0.118 0.333 8.34e-6 4.16e-5 ✓ sig. —
Intestinal polyps Papilloma
2 genes
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PTGS2(1), CCND1(1)
0.118 0.333 8.34e-6 4.16e-5 ✓ sig. —
Hemolysis Paralysis
2 genes
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SOD1(1), ATP7A(1)
0.118 0.333 8.34e-6 4.16e-5 ✓ sig. —
Diabetes complications Diabetes microvascular complications
2 genes
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2 of 2 corroborated by 2+ sources
VEGFA(3), PON1(3)
0.118 0.333 8.34e-6 4.16e-5 ✓ sig. —
Contracture of multiple joints Fetal akinesia deformation sequence
2 genes
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2 of 2 corroborated by 2+ sources
MAGEL2(2), GLDN(2)
0.118 0.333 8.34e-6 4.16e-5 ✓ sig. —

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