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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
Embryonal nuclear cataract Vertebral anomalies with endocrine and t-cell dysfunction
1 gene
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1 of 1 corroborated by 2+ sources
DICER1(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Vascular remodeling Whim syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CXCR2(5)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 136 →
Osteogenic sarcoma Woolly hair
1 gene
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1 of 1 corroborated by 2+ sources
RB1(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Cockayne syndrome Xfe progeroid syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ERCC4(6)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Exanthema Mevalonate kinase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
MVK(3)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Cerebellar ataxia, intellectual disability, and dysequilibrium Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts
1 gene
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1 of 1 corroborated by 2+ sources
ATP8A2(3)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 317 →
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts Dysequilibrium syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ATP8A2(4)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 317 →
Cerebellar ataxia, neuropathy, and vestibular areflexia Hereditary sensory and motor neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
RFC1(4)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 190 →
Cerebellar dysfunction with variable cognitive and behavioral abnormalities Cervical dysplasia
1 gene
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POU4F1(1)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 204 →
Cerebellar dysfunction with variable cognitive and behavioral abnormalities Uterine disease
1 gene
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1 of 1 corroborated by 2+ sources
POU4F1(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 204 →
Chromosome 1q21.1 deletion syndrome Sutural cataract
1 gene
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1 of 1 corroborated by 2+ sources
GJA8(5)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Chronic progressive external ophthalmoplegia Visceral neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
RRM2B(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Idiopathic diabetes Neonatal diabetes mellitus with congenital hypothyroidism
1 gene
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1 of 1 corroborated by 2+ sources
IL2RA(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
17q12 microdeletion syndrome Ovarian mucinous adenocarcinoma
1 gene
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1 of 1 corroborated by 2+ sources
HNF1B(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 23 →
Cervical disc degenerative disorder Diaphyseal bone disorder
1 gene
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1 of 1 corroborated by 2+ sources
TGFB1(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Collagen vi-related myopathy Diffuse mesangial sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
COL4A4(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 49 →
Dihydrolipoamide dehydrogenase deficiency Methemoglobinemia
1 gene
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1 of 1 corroborated by 2+ sources
CYB5R3(5)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Fanconi syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC34A1(3)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 99 →
Duane-radial ray syndrome Laryngeal disease
1 gene
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1 of 1 corroborated by 2+ sources
IPO8(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Ductus arteriosus, patent Hypercapnia
1 gene
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NPPA(1)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Dyschromatopsia Retinitis punctata albescens
1 gene
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EYS(1)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Dyssegmental dysplasia Stuve-wiedemann syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HSPG2(4)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Embryonal carcinoma Hypereosinophilic syndrome
1 gene
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TNFSF8(1)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
17 alpha-hydroxyprogesterone aldolase deficiency Disorders of sex development
1 gene
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1 of 1 corroborated by 2+ sources
AKR1C2(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 344 →
17p13.3 microduplication syndrome Clear cell sarcoma of kidney
1 gene
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1 of 1 corroborated by 2+ sources
YWHAE(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 223 →

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