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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
Alport syndrome Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome
1 gene
Show details
1 of 1 corroborated by 2+ sources
COL4A3(6)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 49 →
Alport syndrome, x-linked Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome
1 gene
Show details
1 of 1 corroborated by 2+ sources
COL4A3(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 49 →
Interleukin 1 receptor antagonist deficiency Multifocal osteomyelitis
1 gene
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IL1RN(1)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 216 →
Iron-refractory iron deficiency anemia Microcytic anemia
1 gene
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1 of 1 corroborated by 2+ sources
TMPRSS6(4)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Jervell and lange-nielsen syndrome Paroxysmal atrial fibrillation
1 gene
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1 of 1 corroborated by 2+ sources
KCNQ1(7)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Jervell and lange-nielsen syndrome Polymorphic ventricular tachycardia
1 gene
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1 of 1 corroborated by 2+ sources
KCNQ1(7)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Arteriovenous hemangioma juvenile polyposis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ENG(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Lateral temporal lobe epilepsy lissencephaly with cerebellar hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
RELN(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Colorectal cancer susceptibility non-severe combined immunodeficiency due to polymerase delta deficiency
1 gene
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1 of 1 corroborated by 2+ sources
POLD1(3)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 410 →
Colorectal cancer susceptibility Xfe progeroid syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POLE(3)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Anaplastic astrocytoma Combined d-2- and l-2-hydroxyglutaric aciduria
1 gene
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1 of 1 corroborated by 2+ sources
IDH2(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Anaplastic oligodendroglioma Combined d-2- and l-2-hydroxyglutaric aciduria
1 gene
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1 of 1 corroborated by 2+ sources
IDH2(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia Neural tube defects, folate-sensitive
1 gene
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1 of 1 corroborated by 2+ sources
MTHFD1(5)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
complex neurodevelopmental disorder with or without congenital anomalies Developmental delay with or without intellectual or behavioral abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
TRRAP(5)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Anisometropia Concussion
1 gene
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1 of 1 corroborated by 2+ sources
PTEN(3)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 291 →
Concussion Lipomatosis
1 gene
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1 of 1 corroborated by 2+ sources
PTEN(3)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 291 →
Congenital keratoglobus Primary congenital glaucoma
1 gene
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LTBP2(1)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Congenital keratoglobus Weill-marchesani syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LTBP2(6)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Congenital mirror movements Horizontal gaze palsy with progressive scoliosis
1 gene
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1 of 1 corroborated by 2+ sources
DCC(3)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Developmental delay with language impairment and movement disorder Dopa-responsive dystonia
1 gene
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1 of 1 corroborated by 2+ sources
NR4A2(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Alport syndrome Diffuse mesangial sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
COL4A4(6)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 49 →
Alport syndrome, x-linked Diffuse mesangial sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
COL4A4(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 49 →
Diffuse palmoplantar keratoderma Keratosis palmoplantaris striata
1 gene
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1 of 1 corroborated by 2+ sources
DSG1(3)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Diffuse panbronchiolitis Extrinsic allergic alveolitis
1 gene
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1 of 1 corroborated by 2+ sources
MUC5B(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Dna repair-deficiency disorders Werner syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WRN(7)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —

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