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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
Cyclic neutropenia Severe congenital neutropenia
2 genes
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1 of 2 corroborated by 2+ sources
CFD(1), ELANE(6)
0.087 1.000 1.95e-6 1.09e-5 ✓ sig. —
Factor xiii deficiency Venous thrombosis
2 genes
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2 of 2 corroborated by 2+ sources
F13A1(6), F13B(6)
0.087 1.000 1.95e-6 1.09e-5 ✓ sig. —
Gm1 gangliosidosis Mucopolysaccharidosis
2 genes
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1 of 2 corroborated by 2+ sources
GLB1(7), TMPPE(1)
0.087 1.000 1.95e-6 1.09e-5 ✓ sig. —
Congenital factor xiii deficiency Venous thrombosis
2 genes
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2 of 2 corroborated by 2+ sources
F13A1(3), F13B(2)
0.087 1.000 1.95e-6 1.09e-5 ✓ sig. —
congenital heart disease with heterotaxy syndrome Heterotaxy syndrome
2 genes
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2 of 2 corroborated by 2+ sources
ZIC3(6), NODAL(5)
0.087 1.000 1.95e-6 1.09e-5 ✓ sig. Cluster 46 →
Testicular carcinoma Testicular neoplasms
3 genes
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3 of 3 corroborated by 2+ sources
DMRT1(2), ATF7IP(2), KITLG(2)
0.046 0.429 1.95e-6 1.09e-5 ✓ sig. —
Testicular germ cell tumor Testicular neoplasms
3 genes
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3 of 3 corroborated by 2+ sources
DMRT1(2), ATF7IP(2), KITLG(2)
0.046 0.429 1.95e-6 1.09e-5 ✓ sig. —
Congenital clubfoot Micrognathism
3 genes
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BLTP1(1), PITX1(1), INPP5E(1)
0.079 0.176 1.95e-6 1.09e-5 ✓ sig. —
Larsen syndrome Skeletal dysplasia
3 genes
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2 of 3 corroborated by 2+ sources
FGFR3(1), CSGALNACT1(5), CHST3(4)
0.079 0.176 1.95e-6 1.09e-5 ✓ sig. Cluster 68 →
Dominantly inherited sensory neuropathy Sensory neuropathy
2 genes
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DNMT1(1), SCN11A(1)
0.133 0.667 1.97e-6 1.10e-5 ✓ sig. —
Bor syndrome Congenital abnormalities
2 genes
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2 of 2 corroborated by 2+ sources
EYA1(3), SIX1(3)
0.133 0.667 1.97e-6 1.10e-5 ✓ sig. Cluster 145 →
Myoclonic epilepsy with ragged red fibers Progressive external ophthalmoplegia
2 genes
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2 of 2 corroborated by 2+ sources
IL1A(2), IL1B(2)
0.133 0.667 1.97e-6 1.10e-5 ✓ sig. Cluster 32 →
Benign mucous membrane pemphigoid with ocular involvement Optic neuritis
2 genes
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0.133 0.667 1.97e-6 1.10e-5 ✓ sig. Cluster 1 →
Bouillaud’s disease Optic neuritis
2 genes
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0.133 0.667 1.97e-6 1.10e-5 ✓ sig. Cluster 1 →
Acute disseminated encephalomyelitis Optic neuritis
2 genes
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0.133 0.667 1.97e-6 1.10e-5 ✓ sig. Cluster 1 →
Benign mucous membrane pemphigoid Optic neuritis
2 genes
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0.133 0.667 1.97e-6 1.10e-5 ✓ sig. Cluster 1 →
Essential thrombocythemia Polycythemia, primary familial and congenital
2 genes
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2 of 2 corroborated by 2+ sources
SH2B3(3), JAK2(3)
0.133 0.667 1.97e-6 1.10e-5 ✓ sig. —
Activated pi3k-delta syndrome Agammaglobulinemia
2 genes
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2 of 2 corroborated by 2+ sources
PIK3CD(2), PIK3R1(5)
0.133 0.667 1.97e-6 1.10e-5 ✓ sig. Cluster 181 →
Mitochondrial hepatopathy Progressive external ophthalmoplegia
2 genes
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2 of 2 corroborated by 2+ sources
POLG(3), TWNK(3)
0.133 0.667 1.97e-6 1.10e-5 ✓ sig. —
Intestinal perforation Raynaud disease
2 genes
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1 of 2 corroborated by 2+ sources
NOS3(3), IFNA2(1)
0.133 0.667 1.97e-6 1.10e-5 ✓ sig. —
Hyperbilirubinemia Rotor syndrome
2 genes
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2 of 2 corroborated by 2+ sources
SLCO1B1(6), SLCO1B3(6)
0.133 0.667 1.97e-6 1.10e-5 ✓ sig. Cluster 260 →
Deafness, aminoglycoside-induced Neuropathy, ataxia, and retinitis pigmentosa
2 genes
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ND1(1), COX1(1)
0.133 0.667 1.97e-6 1.10e-5 ✓ sig. —
Hematoma Intracranial hemorrhage
2 genes
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PLAT(1), F7(1)
0.133 0.667 1.97e-6 1.10e-5 ✓ sig. —
Lipoprotein lipase deficiency Neoplasms
4 genes
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FADS1(1), FADS2(1), MYRF(1), TMEM258(1)
0.054 0.133 1.97e-6 1.10e-5 ✓ sig. —
Chorea Dysarthria
3 genes
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CACNA1A(1), DNMT1(1), ADCY5(1)
0.079 0.167 2.04e-6 1.13e-5 ✓ sig. —

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