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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
Early-onset hypertension with severe exacerbation in pregnancy pseudohyperaldosteronism type 2
1 gene
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1 of 1 corroborated by 2+ sources
NR3C2(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Early-onset immune dysregulation due to dock11 complete deficiency Early-onset immune dysregulation with autoimmunity due to dock11 partial deficiency
1 gene
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1 of 1 corroborated by 2+ sources
DOCK11(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Early-onset myopathy with fatal cardiomyopathy Progressive contractures limb-girdle weakness muscle dystrophy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TTN(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 221 →
Early-onset myopathy with fatal cardiomyopathy myopathy, myofibrillar, 9, with early respiratory failure
1 gene
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1 of 1 corroborated by 2+ sources
TTN(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 221 →
Early-onset myopathy with fatal cardiomyopathy tibial muscular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
TTN(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 221 →
Early-onset myopathy with fatal cardiomyopathy TTN-related myopathy, dominant-negative TTNsv
1 gene
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1 of 1 corroborated by 2+ sources
TTN(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 221 →
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome MEGF10-related myopathy
1 gene
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1 of 1 corroborated by 2+ sources
MEGF10(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Early-onset parkinsonism-intellectual disability syndrome Parkinsonism with cognitive impairment
1 gene
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1 of 1 corroborated by 2+ sources
RAB39B(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Early-onset parkinsonism-intellectual disability syndrome Waisman syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RAB39B(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Sanjad-sakati syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TBCE(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 108 →
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome encephalopathy, progressive, with amyotrophy and optic atrophy
1 gene
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1 of 1 corroborated by 2+ sources
TBCE(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 108 →
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome Intellectual developmental disorder dysmorphic seizures
1 gene
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1 of 1 corroborated by 2+ sources
OTUD6B(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Early-onset severe hermansky-pudlak syndrome with hearing loss due to ap3d1 deficiency Ocular albinism with sensorineural deafness
1 gene
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AP3D1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 414 →
Early-onset severe hermansky-pudlak syndrome with hearing loss due to ap3d1 deficiency hermansky-pudlak syndrome 10
1 gene
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1 of 1 corroborated by 2+ sources
AP3D1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 414 →
East texas bleeding disorder thrombophilia due to activated protein c resistance
1 gene
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1 of 1 corroborated by 2+ sources
F5(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 37 →
ectodermal dysplasia WNT10A related Schopf-schulz-passarge syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WNT10A(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition Hemoglobin high altitude adaptation
1 gene
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1 of 1 corroborated by 2+ sources
EGLN1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
ehlers-danlos syndrome, vascular type Vascular ehlers-danlos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COL3A1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 334 →
Encephaloclastic proliferative vasculopathy Fowler syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLVCR2(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
encephalopathy, progressive, with amyotrophy and optic atrophy Sanjad-sakati syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TBCE(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 108 →
enhanced s-cone syndrome Goldmann-favre syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NR2E3(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Epidermolysa bullosa simplex and limb girdle muscular dystrophy PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder
1 gene
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1 of 1 corroborated by 2+ sources
PLEC(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Arhinia-choanal atresia-microphthalmia syndrome Bosma arhinia microphthalmia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SMCHD1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 313 →
arrhythmogenic cardiomyopathy with wooly hair and keratoderma Carvajal syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DSP(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 201 →
arrhythmogenic cardiomyopathy with wooly hair and keratoderma Erythrokeratodermia-cardiomyopathy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DSP(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 201 →

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