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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
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. —
Desanto-shinawi syndrome Multiple myeloma
1 gene
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1 of 1 corroborated by 2+ sources
WAC(6)
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. —
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 →
Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia Cholecystolithiasis
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 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 →
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. —
hao-fountain 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. —
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. —
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. —
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 →
Cholecystolithiasis TRAF3 haploinsufficiency
1 gene
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1 of 1 corroborated by 2+ sources
TRAF3(2)
0.007 1.000 9.22e-3 1.05e-2 ✓ sig. —
Urinary bladder neoplasms X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HMGB3(4)
0.007 1.000 9.22e-3 1.05e-2 ✓ sig. —
Motor neuron disease X-linked lymphoproliferative syndrome
1 gene
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1 of 1 corroborated by 2+ sources
XIAP(5)
0.014 0.500 9.20e-3 1.05e-2 ✓ sig. —
Cerebral amyloid angiopathy Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.014 0.500 9.20e-3 1.05e-2 ✓ sig. —
Chylomicron retention disease Ciliopathy
1 gene
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1 of 1 corroborated by 2+ sources
DCDC2(3)
0.014 0.500 9.20e-3 1.05e-2 ✓ sig. —
Focal facial dermal dysplasia Sjogren syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TWIST2(6)
0.014 0.500 9.20e-3 1.05e-2 ✓ sig. —
Gastroschisis Hyperlipidemia
1 gene
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ADD1(1)
0.007 1.000 9.16e-3 1.05e-2 ✓ sig. —
Hyperlipidemia hyperlysinemia
1 gene
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1 of 1 corroborated by 2+ sources
AASS(7)
0.007 1.000 9.16e-3 1.05e-2 ✓ sig. —
hypomyelinating leukodystrophy 3 Nonsyndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
AIMP1(4)
0.007 1.000 9.16e-3 1.05e-2 ✓ sig. —
Nonsyndromic intellectual disability Progressive myoclonic epilepsy with renal failure
1 gene
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1 of 1 corroborated by 2+ sources
SEMA6B(5)
0.007 1.000 9.16e-3 1.05e-2 ✓ sig. —

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