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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
Bptf-related intellectual disability facial dysmorphism skeletal anomalies syndrome Urinary bladder neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
BPTF(2)
0.007 1.000 9.22e-3 1.05e-2 ✓ sig. —
16p13.2 microdeletion syndrome Urinary bladder neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
USP7(2)
0.007 1.000 9.22e-3 1.05e-2 ✓ sig. —
Adenylosuccinate lyase deficiency Cholecystolithiasis
1 gene
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1 of 1 corroborated by 2+ sources
ADSL(2)
0.007 1.000 9.22e-3 1.05e-2 ✓ sig. Cluster 237 →
Anus neoplasms Urinary bladder neoplasms
1 gene
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IFNB1(1)
0.007 1.000 9.22e-3 1.05e-2 ✓ sig. Cluster 5 →
Cholecystolithiasis Corticosteroid-binding globulin deficiency
1 gene
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1 of 1 corroborated by 2+ sources
0.007 1.000 9.22e-3 1.05e-2 ✓ sig. —
Cholecystolithiasis Papa syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PSTPIP1(2)
0.007 1.000 9.22e-3 1.05e-2 ✓ sig. —
Cholecystolithiasis cone-rod dystrophy 20
1 gene
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1 of 1 corroborated by 2+ sources
POC1B(2)
0.007 1.000 9.22e-3 1.05e-2 ✓ sig. Cluster 237 →
Maleylacetoacetate isomerase deficiency Urinary bladder neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
GSTZ1(5)
0.007 1.000 9.22e-3 1.05e-2 ✓ sig. —
immunodeficiency 96 Urinary bladder neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
LIG1(2)
0.007 1.000 9.22e-3 1.05e-2 ✓ sig. —
Cholecystolithiasis johanson-blizzard syndrome
1 gene
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1 of 1 corroborated by 2+ sources
UBR1(2)
0.007 1.000 9.22e-3 1.05e-2 ✓ sig. Cluster 237 →
immunodeficiency-centromeric instability-facial anomalies syndrome 3 Multiple myeloma
1 gene
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1 of 1 corroborated by 2+ sources
CDCA7(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Developmental disability Intellectual developmental disorder dysmorphic
1 gene
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1 of 1 corroborated by 2+ sources
POU3F3(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. Cluster 6 →
Developmental disability Intellectual developmental disorder short stature behavioral
1 gene
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1 of 1 corroborated by 2+ sources
IQSEC1(4)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Developmental disability intellectual developmental disorder, autosomal dominant 65
1 gene
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1 of 1 corroborated by 2+ sources
KDM4B(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
joubert syndrome 30 Multiple myeloma
1 gene
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1 of 1 corroborated by 2+ sources
ARMC9(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Developmental disability Helsmoortel-van der aa syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ADNP(3)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. Cluster 6 →
Developmental disability Hyperekplexia epilepsy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ARHGEF9(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Developmental disability X-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia
1 gene
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1 of 1 corroborated by 2+ sources
MAGT1(5)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
basilicata-akhtar syndrome Developmental disability
1 gene
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1 of 1 corroborated by 2+ sources
MSL3(3)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. Cluster 6 →
Developmental delay with hypotonia and behavioral abnormalities Multiple myeloma
1 gene
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1 of 1 corroborated by 2+ sources
SRCAP(5)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Developmental disability Diets-jongmans syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KDM3B(4)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Developmental disability spondyloepimetaphyseal dysplasia, genevieve type
1 gene
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1 of 1 corroborated by 2+ sources
NANS(3)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Developmental disability syndromic X-linked intellectual disability Snyder type
1 gene
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1 of 1 corroborated by 2+ sources
SMS(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
15q11q13 microduplication syndrome Developmental disability
1 gene
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1 of 1 corroborated by 2+ sources
UBE3A(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Developmental disability neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
POLR2A(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —

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