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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
Colitis severe combined immunodeficiency due to CARMIL2 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CARMIL2(2)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Jeune thoracic dystrophy short-rib thoracic dysplasia 11 with or without polydactyly
1 gene
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1 of 1 corroborated by 2+ sources
DYNC2I2(2)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. Cluster 22 →
Jeune thoracic dystrophy short-rib thoracic dysplasia 16 with or without polydactyly
1 gene
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1 of 1 corroborated by 2+ sources
IFT52(2)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. Cluster 22 →
Jeune thoracic dystrophy short-rib thoracic dysplasia 17 with or without polydactyly
1 gene
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1 of 1 corroborated by 2+ sources
DYNLT2B(2)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. Cluster 22 →
Jeune thoracic dystrophy short-rib thoracic dysplasia 19 with or without polydactyly
1 gene
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1 of 1 corroborated by 2+ sources
IFT81(2)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. Cluster 22 →
Jeune thoracic dystrophy short-rib thoracic dysplasia 8 with or without polydactyly
1 gene
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1 of 1 corroborated by 2+ sources
DYNC2I1(2)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. Cluster 22 →
Rod-cone dystrophy SNRNP200-related dominant retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Colitis sorsby fundus dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
TIMP3(3)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Osteochondrodysplasias Stickler syndrome, type 4
1 gene
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1 of 1 corroborated by 2+ sources
COL9A1(3)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Jeune thoracic dystrophy nephronophthisis 12
1 gene
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1 of 1 corroborated by 2+ sources
TTC21B(2)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. Cluster 22 →
Bronchitis Neurodevelopmental disorder with dilated cardiomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
CAMK2D(2)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. Cluster 1 →
Hyperkinesia neurodevelopmental disorder with language impairment and behavioral abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
GRIA2(3)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. Cluster 13 →
obsolete Stüve-Wiedemann syndrome Osteochondrodysplasias
1 gene
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1 of 1 corroborated by 2+ sources
LIFR(2)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Jeune thoracic dystrophy orofaciodigital syndrome type 14
1 gene
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1 of 1 corroborated by 2+ sources
C2CD3(2)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
MCM9-related gametogenic failure Testicular azoospermia
1 gene
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1 of 1 corroborated by 2+ sources
MCM9(2)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Hemolytic uremic syndrome membranoproliferative glomerulonephritis
1 gene
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1 of 1 corroborated by 2+ sources
DGKE(5)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
microphthalmia, syndromic 2 Sarcoma
1 gene
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1 of 1 corroborated by 2+ sources
BCOR(2)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Comp-related skeletal dysplasia Osteochondrodysplasias
1 gene
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1 of 1 corroborated by 2+ sources
COMP(3)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Temporal lobe epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
NALCN(4)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Congenital limbs-face contractures-hypotonia-developmental delay syndrome Temporal lobe epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
NALCN(2)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Bladder dysfunction Bronchitis
1 gene
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1 of 1 corroborated by 2+ sources
CHRNA3(3)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Bladder dysfunction Peripheral vascular disease
1 gene
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1 of 1 corroborated by 2+ sources
CHRNA3(3)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Bone dysplasia with increased bone density Osteochondrodysplasias
1 gene
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1 of 1 corroborated by 2+ sources
SOST(2)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Bptf-related intellectual disability facial dysmorphism skeletal anomalies syndrome Sarcoma
1 gene
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1 of 1 corroborated by 2+ sources
BPTF(2)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. —
Developmental delay with or without epilepsy Jeune thoracic dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
SPTAN1(3)
0.029 1.000 2.14e-3 3.04e-3 ✓ sig. Cluster 22 →

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