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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
Hereditary breast-ovarian cancer syndrome RAD51D-related cancer predisposition
1 gene
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1 of 1 corroborated by 2+ sources
RAD51D(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 132 →
thrombocytopenia 2 Thrombocytopenia with normal platelets
1 gene
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1 of 1 corroborated by 2+ sources
ANKRD26(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
thrombocytopenia 4 Thrombocytopenia with normal platelets
1 gene
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1 of 1 corroborated by 2+ sources
CYCS(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
thrombocytopenia 5 Thrombocytopenia with normal platelets
1 gene
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1 of 1 corroborated by 2+ sources
ETV6(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
thrombocytopenia 7 Thrombocytopenia with normal platelets
1 gene
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1 of 1 corroborated by 2+ sources
IKZF5(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Tietz syndrome Waardenburg syndrome type 2
1 gene
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1 of 1 corroborated by 2+ sources
MITF(6)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Li-fraumeni syndrome Trisomy
1 gene
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1 of 1 corroborated by 2+ sources
CDKN2A(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Central areolar choroidal dystrophy TTLL5-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
TTLL5(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 45 →
Upper extremity deformity, congenital Weaver syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EZH2(6)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 44 →
Urinary bladder diseases Ventricular outflow obstruction
1 gene
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1 of 1 corroborated by 2+ sources
INS(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 112 →
Adrenocortical carcinoma Urogenital neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
TP53(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 3 →
Choroid plexus carcinoma Urogenital neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
TP53(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 3 →
Nephrotic syndrome, focal segmental type Ventriculomegaly with cystic kidney disease
1 gene
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1 of 1 corroborated by 2+ sources
CRB2(5)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Commissural facial cleft Waardenburg syndrome type 2
1 gene
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1 of 1 corroborated by 2+ sources
MITF(5)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Kleins syndrome Waardenburg syndrome type 2
1 gene
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1 of 1 corroborated by 2+ sources
MITF(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 229 →
Kleins syndrome Waardenburg syndrome type 4B
1 gene
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1 of 1 corroborated by 2+ sources
EDN3(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 229 →
Clapo syndrome Weaver syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 44 →
Cloves syndrome Weaver syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 44 →
Congenital intestinal duplication Weaver syndrome
1 gene
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PIK3CA(1)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 44 →
Hemiplegic migraine X-linked cerebral cerebellar coloboma syndrome
1 gene
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WDR45(1)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 391 →
46,xx sex reversal X-linked congenital generalized hypertrichosis
1 gene
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1 of 1 corroborated by 2+ sources
SOX3(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Aortic rupture X-linked distal spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
ATP7A(6)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Dysfibrinogenemia X-linked hyper-igm syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CD40LG(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Hemiplegic migraine X-linked optic atrophy
1 gene
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WDR45(1)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 391 →
Diaphragmatic malformations X-linked osteoporosis
1 gene
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1 of 1 corroborated by 2+ sources
PLS3(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —

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