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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
neurodevelopmental disorder with hypotonia, epilepsy, and absent speech neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
1 gene
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UNC13A(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
neurodevelopmental disorder with microcephaly and dysmorphic facies neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
1 gene
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SPOP(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
1 gene
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NARS1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
NOG-related symphalangism spectrum disorder Proximal symphalangism
1 gene
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1 of 1 corroborated by 2+ sources
NOG(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
obsolete hereditary ATTR amyloidosis Senile systemic amyloidosis
1 gene
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1 of 1 corroborated by 2+ sources
TTR(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 182 →
obsolete hereditary ATTR amyloidosis Transthyretin amyloid cardiomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
TTR(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 182 →
obsolete hereditary ATTR amyloidosis Wild-type transthyretin-related amyloidosis
1 gene
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1 of 1 corroborated by 2+ sources
TTR(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 182 →
obsolete lethal restrictive dermopathy Tight skin contracture syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 65 →
Cooleys anemia obsolete sickle cell disease and related diseases
1 gene
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1 of 1 corroborated by 2+ sources
HBB(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →
Dominant beta-thalassemia obsolete sickle cell disease and related diseases
1 gene
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1 of 1 corroborated by 2+ sources
HBB(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →
Hemoglobin c disease obsolete sickle cell disease and related diseases
1 gene
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1 of 1 corroborated by 2+ sources
HBB(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →
Hemoglobin c beta thalassemia obsolete sickle cell disease and related diseases
1 gene
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1 of 1 corroborated by 2+ sources
HBB(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →
Hemoglobin d disease obsolete sickle cell disease and related diseases
1 gene
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1 of 1 corroborated by 2+ sources
HBB(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 19 →
occult macular dystrophy Ulnar-fibular ray defect and brachydactyly
1 gene
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1 of 1 corroborated by 2+ sources
RP1L1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
oculocutaneous albinism type 1 Temperature-sensitive oculocutaneous albinism
1 gene
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1 of 1 corroborated by 2+ sources
TYR(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Oropharyngeal dysphagia X-linked non progressive cerebellar ataxia
1 gene
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1 of 1 corroborated by 2+ sources
ATP2B3(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Osteofibrous dysplasia papillary renal cell carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
MET(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Other specified diabetes mellitus with unspecified complications Wolfram-like syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WFS1(7)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Otopalatodigital spectrum disorder Terminal osseous dysplasia with pigmentary defects
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 62 →
Otopalatodigital spectrum disorder X-linked ehlers-danlos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 62 →
Otopalatodigital spectrum disorder X-linked keloid scarring syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 62 →
11p partial monosomy syndrome Denys drash syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WT1(7)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 35 →
11p partial monosomy syndrome Drash syndrome
1 gene
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WT1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 35 →
11p partial monosomy syndrome wilms tumor 1
1 gene
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1 of 1 corroborated by 2+ sources
WT1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 35 →
12p12.1 microdeletion syndrome lamb-shaffer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SOX5(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —

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