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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
immunodeficiency 15a severe combined immunodeficiency due to IKK2 deficiency
1 gene
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IKBKB(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
immunodeficiency 31b Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
1 gene
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STAT1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
immunodeficiency 37 Mucosa-associated lymphoma
1 gene
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1 of 1 corroborated by 2+ sources
BCL10(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
immunodeficiency 61 X-linked common variable immunodeficiency phenotype due to sh3kbp1 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
SH3KBP1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
1 gene
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RAC2(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia neutrophil immunodeficiency syndrome
1 gene
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RAC2(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia neutrophil immunodeficiency syndrome
1 gene
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RAC2(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
immunodeficiency due to CD25 deficiency Interleukin 2 receptor deficiency
1 gene
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1 of 1 corroborated by 2+ sources
IL2RA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 394 →
IMPG1-related dominant retinopathy IMPG1-related recessive retinopathy
1 gene
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IMPG1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 303 →
infantile convulsions and choreoathetosis Paroxysmal dystonia
1 gene
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1 of 1 corroborated by 2+ sources
PRRT2(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 58 →
inflammatory bowel disease, immunodeficiency, and encephalopathy Peritoneal fibrosis
1 gene
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1 of 1 corroborated by 2+ sources
TGFB1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Insulin-resistant diabetes mellitus with acanthosis nigricans Type a insulin resistance syndrome
1 gene
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1 of 1 corroborated by 2+ sources
INSR(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Intellectual developmental disorder cataracts myopathy primrose syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ZBTB20(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Intellectual developmental disorder dysmorphic cardiac short stature Verheij syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PUF60(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 224 →
Intellectual developmental disorder dysmorphic skeletal Intellectual developmental disorder dysmorphic speech skeletal
1 gene
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1 of 1 corroborated by 2+ sources
CNOT2(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Intellectual developmental disorder dysmorphic skeletal hair Intellectual developmental disorder speech dysmorphic t-cell
1 gene
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1 of 1 corroborated by 2+ sources
BCL11B(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Intellectual developmental disorder expressive speech dysmorphic Schinzel-Giedion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SETBP1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 271 →
Intellectual developmental disorder growth behavioral Intellectual developmental disorder macrocephaly hypotonia behavioral
1 gene
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1 of 1 corroborated by 2+ sources
PPP2R5D(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Intellectual developmental disorder microcephaly ocular SOX11-related complex neurodevelopmental disorder with or without congenital anomalies
1 gene
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1 of 1 corroborated by 2+ sources
SOX11(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Intellectual developmental disorder seizures dysmorphic skeletal multiple congenital anomalies-hypotonia-seizures syndrome 3
1 gene
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1 of 1 corroborated by 2+ sources
PIGT(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Intellectual developmental disorder short stature facial Intellectual developmental disorder short stature facial speech
1 gene
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1 of 1 corroborated by 2+ sources
FBXL3(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Interrupted aortic arch NKX2.5-related congenital, conduction and myopathic heart disease
1 gene
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1 of 1 corroborated by 2+ sources
NKX2-5(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 161 →
Intestinal aganglionosis Waardenburg syndrome type 4A
1 gene
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1 of 1 corroborated by 2+ sources
EDNRB(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
IRF6-related condition Popliteal pterygium syndrome
1 gene
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1 of 1 corroborated by 2+ sources
IRF6(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
joubert syndrome 1 MORM syndrome
1 gene
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INPP5E(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —

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