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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
17p11.2 microduplication syndrome Potocki-lupski syndrome
2 genes
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2 of 2 corroborated by 2+ sources
FLCN(4), RAI1(5)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 347 →
Amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia
2 genes
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2 of 2 corroborated by 2+ sources
MPL(7), THPO(6)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 53 →
Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema Autoinflammatory disease, systemic, x-linked
2 genes
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1 of 2 corroborated by 2+ sources
G6PD(1), IKBKG(4)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 87 →
Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema Bloch sulzberger syndrome
2 genes
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1 of 2 corroborated by 2+ sources
G6PD(1), IKBKG(2)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 87 →
Aniridia-cerebellar ataxia-intellectual disability syndrome Gillespie syndrome
2 genes
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2 of 2 corroborated by 2+ sources
ITPR1(6), PAX6(3)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 74 →
Annular epidermolytic ichthyosis Epidermolytic ichthyosis
2 genes
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2 of 2 corroborated by 2+ sources
KRT1(6), KRT10(6)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 230 →
Annular epidermolytic ichthyosis Congenital reticular ichthyosiform erythroderma
2 genes
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2 of 2 corroborated by 2+ sources
KRT1(3), KRT10(5)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 230 →
Anosmia Congenital anosmia
2 genes
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2 of 2 corroborated by 2+ sources
CNGA2(2), TENM1(2)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. —
Aphasia Postictal aphasia
2 genes
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2 of 2 corroborated by 2+ sources
PLAT(2), L1CAM(2)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 258 →
Aphasia Commisural aphasia
2 genes
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2 of 2 corroborated by 2+ sources
PLAT(2), L1CAM(2)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 258 →
Aphasia Dejerine-lichtheim phenomenon
2 genes
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2 of 2 corroborated by 2+ sources
PLAT(2), L1CAM(2)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 258 →
Aphasia Syntactic aphasia
2 genes
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2 of 2 corroborated by 2+ sources
PLAT(2), L1CAM(2)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 258 →
Rheumatic disease of mitral valve Rheumatic mitral regurgitation
2 genes
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ACE(1), MTHFR(1)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 195 →
Boichis syndrome Senior-boichis syndrome
2 genes
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2 of 2 corroborated by 2+ sources
TMEM67(3), DCDC2(3)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 306 →
Malignant peripheral nerve sheath tumor Malignant triton tumor
2 genes
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SH3PXD2A(1), HTRA1(1)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 403 →
Microcephaly, epilepsy, and diabetes syndrome Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
2 genes
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2 of 2 corroborated by 2+ sources
IER3IP1(7), YIPF5(4)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. —
Mitral valve disease Rheumatic disease of mitral valve
2 genes
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ACE(1), MTHFR(1)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 195 →
Mitral valve disease Rheumatic mitral regurgitation
2 genes
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ACE(1), MTHFR(1)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 195 →
Autoinflammatory disease, systemic, x-linked Bloch sulzberger syndrome
2 genes
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1 of 2 corroborated by 2+ sources
G6PD(1), IKBKG(3)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 87 →
Axenfeld anomaly Iridogoniodysgenesis
2 genes
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2 of 2 corroborated by 2+ sources
FOXC1(3), PITX2(3)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 253 →
Polycystic kidney disease with tuberous sclerosis Polycystic kidneys, severe infantile with tuberous sclerosis
2 genes
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2 of 2 corroborated by 2+ sources
PKD1(2), TSC2(2)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 70 →
Postictal aphasia Syntactic aphasia
2 genes
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PLAT(1), L1CAM(1)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 258 →
Posttraumatic porencephalic cyst of brain Vascular leukoencephalopathy
2 genes
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2 of 2 corroborated by 2+ sources
COL4A2(2), COL4A1(2)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 198 →
Keratosis follicularis spinulosa decalvans, x-linked Olmsted syndrome, x-linked
2 genes
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1 of 2 corroborated by 2+ sources
MBTPS2(6), YY2(1)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 332 →
Hemolytic disease of fetus and newborn Rh isoimmunization
2 genes
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1 of 2 corroborated by 2+ sources
RHD(2), RSRP1(1)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 302 →

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