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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
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. —
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. —
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. —
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. —
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. —
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. —
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 →
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 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. —
Hematologic neoplasms Secondary parkinson disease
2 genes
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2 of 2 corroborated by 2+ sources
PON1(2), ABCB1(2)
0.105 0.400 8.84e-6 4.39e-5 ✓ sig. —
Cortical development malformation overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
2 genes
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2 of 2 corroborated by 2+ sources
AKT3(2), MTOR(2)
0.069 0.667 8.87e-6 4.41e-5 ✓ sig. —
Bell's palsy Large artery stroke
5 genes
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CDC5L(1), FARP1(1), SUPT3H(1), EYA1(1), MGST1(1)
0.038 0.089 9.14e-6 4.54e-5 ✓ sig. —
Clear cell renal cell carcinoma Lipoma
3 genes
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TERT(1), STN1(1), ACTRT3(1)
0.046 0.250 9.27e-6 4.60e-5 ✓ sig. —
Sickle cell anemia Systemic mastocytosis
3 genes
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2 of 3 corroborated by 2+ sources
HBE1(2), HBG2(2), OR51B5(1)
0.061 0.130 9.31e-6 4.62e-5 ✓ sig. Cluster 235 →
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia Neural tube defect
2 genes
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1 of 2 corroborated by 2+ sources
ZBTB25(1), MTHFD1(5)
0.041 1.000 9.52e-6 4.72e-5 ✓ sig. —
Congenital lactic acidosis Cytochrome c oxidase deficiency
2 genes
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2 of 2 corroborated by 2+ sources
LRPPRC(4), PET100(2)
0.087 0.500 9.60e-6 4.76e-5 ✓ sig. —
Central precocious puberty Vogt-koyanagi-harada disease
2 genes
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C1orf141(1), IL23R(1)
0.118 0.286 9.72e-6 4.82e-5 ✓ sig. —
Autoimmune lymphoproliferative disorder Epidermal nevus
2 genes
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2 of 2 corroborated by 2+ sources
KRAS(2), NRAS(3)
0.118 0.286 9.72e-6 4.82e-5 ✓ sig. Cluster 18 →
Focal cortical dysplasia Infantile spasms
2 genes
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2 of 2 corroborated by 2+ sources
TSC2(3), TSC1(3)
0.118 0.286 9.72e-6 4.82e-5 ✓ sig. —
Epidermal nevus Melanocytic nevus
2 genes
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2 of 2 corroborated by 2+ sources
NRAS(4), HRAS(4)
0.118 0.286 9.72e-6 4.82e-5 ✓ sig. Cluster 18 →
Testicular hydrocele Thyroid dyshormonogenesis
2 genes
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2 of 2 corroborated by 2+ sources
TG(5), SLA(2)
0.118 0.286 9.72e-6 4.82e-5 ✓ sig. —

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