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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
Prader-willi syndrome Skin hair eye pigmentation variation
2 genes
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2 of 2 corroborated by 2+ sources
HERC2(4), OCA2(3)
0.143 0.286 4.95e-6 2.57e-5 ✓ sig. Cluster 298 →
Klippel-feil syndrome Spondylocostal dysostosis
2 genes
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1 of 2 corroborated by 2+ sources
0.143 0.286 4.95e-6 2.57e-5 ✓ sig. —
Klippel-trenaunay syndrome Rubinstein-taybi syndrome
2 genes
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DLX5(1), SMOC1(1)
0.143 0.286 4.95e-6 2.57e-5 ✓ sig. —
Capillary malformation-arteriovenous malformation Congenital venous anomaly
2 genes
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1 of 2 corroborated by 2+ sources
EPHB4(5), KRAS(1)
0.143 0.286 4.95e-6 2.57e-5 ✓ sig. —
Cryptogenic west syndrome Focal cortical dysplasia
2 genes
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2 of 2 corroborated by 2+ sources
TSC2(3), TSC1(3)
0.143 0.286 4.95e-6 2.57e-5 ✓ sig. —
Hepatic veno occlusive disease Mucositis
2 genes
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2 of 2 corroborated by 2+ sources
MTHFR(2), CSF3(2)
0.143 0.286 4.95e-6 2.57e-5 ✓ sig. Cluster 196 →
Capillary malformation-arteriovenous malformation Hereditary hemorrhagic telangiectasia
2 genes
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1 of 2 corroborated by 2+ sources
RASA1(6), CCNH(1)
0.143 0.286 4.95e-6 2.57e-5 ✓ sig. Cluster 40 →
Ruptured abdominal aortic aneurysm Varicose veins
2 genes
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ELN(1), MMP9(1)
0.143 0.286 4.95e-6 2.57e-5 ✓ sig. Cluster 66 →
Ruptured aortic aneurysm Varicose veins
2 genes
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ELN(1), MMP9(1)
0.143 0.286 4.95e-6 2.57e-5 ✓ sig. Cluster 66 →
Ruptured thoracic aortic aneurysm Varicose veins
2 genes
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ELN(1), MMP9(1)
0.143 0.286 4.95e-6 2.57e-5 ✓ sig. Cluster 66 →
Thoracoabdominal aortic aneurysm Varicose veins
2 genes
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ELN(1), MMP9(1)
0.143 0.286 4.95e-6 2.57e-5 ✓ sig. Cluster 66 →
Coffin-siris syndrome Pituitary stalk interruption syndrome
3 genes
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3 of 3 corroborated by 2+ sources
ARID1B(7), SMARCA2(2), SOX11(4)
0.065 0.176 4.93e-6 2.56e-5 ✓ sig. —
Gliosarcoma Transitional cell carcinoma
3 genes
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3 of 3 corroborated by 2+ sources
FGFR3(2), TP53(2), TACC3(2)
0.064 0.188 4.93e-6 2.56e-5 ✓ sig. —
Hyperkinesia Seasonal affective disorder
3 genes
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3 of 3 corroborated by 2+ sources
NPY(2), HTR2A(2), HTR2C(2)
0.064 0.188 4.93e-6 2.56e-5 ✓ sig. —
Generalized epilepsy with febrile seizures plus Temporal lobe epilepsy
3 genes
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2 of 3 corroborated by 2+ sources
ANO4(1), CPA6(4), RELN(2)
0.064 0.188 4.93e-6 2.56e-5 ✓ sig. —
Amyloid neuropathy Splenomegaly
2 genes
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2 of 2 corroborated by 2+ sources
APP(2), PSEN1(2)
0.091 0.667 4.80e-6 2.50e-5 ✓ sig. —
Schimmelpenning-feuerstein-mims syndrome Splenomegaly
2 genes
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2 of 2 corroborated by 2+ sources
KRAS(2), NRAS(2)
0.091 0.667 4.80e-6 2.50e-5 ✓ sig. Cluster 18 →
Hoarding disorder Pericardium disorder
2 genes
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LRRC3B(1), NEK10(1)
0.091 0.667 4.80e-6 2.50e-5 ✓ sig. Cluster 278 →
Dandy-walker syndrome Hydrolethalus syndrome
2 genes
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1 of 2 corroborated by 2+ sources
HYLS1(7), PUS3(1)
0.091 0.667 4.80e-6 2.50e-5 ✓ sig. —
Dandy-walker syndrome Hydrocephalus
3 genes
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PDGFRB(1), BLTP1(1), DPH1(1)
0.068 0.150 4.78e-6 2.49e-5 ✓ sig. —
Retinopathy of prematurity Urethral obstruction
3 genes
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3 of 3 corroborated by 2+ sources
AGT(2), SERPINE1(2), NOS3(2)
0.068 0.150 4.78e-6 2.49e-5 ✓ sig. —
Bell's palsy Nervous system disease
5 genes
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1 of 5 corroborated by 2+ sources
CDC5L(1), FARP1(1), GRIK2(1), SUPT3H(1), SLC2A1(3)
0.042 0.089 4.64e-6 2.42e-5 ✓ sig. Cluster 243 →
Arthrogryposis Sheldon-hall syndrome
2 genes
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2 of 2 corroborated by 2+ sources
MYH3(2), TPM2(3)
0.133 0.400 4.63e-6 2.42e-5 ✓ sig. Cluster 202 →
Bernard-soulier syndrome Macrothrombocytopenia
2 genes
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2 of 2 corroborated by 2+ sources
GP1BB(7), GP1BA(8)
0.133 0.400 4.63e-6 2.42e-5 ✓ sig. —
Trichothiodystrophy Xeroderma pigmentosum-cockayne syndrome
2 genes
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2 of 2 corroborated by 2+ sources
ERCC2(5), ERCC3(7)
0.133 0.400 4.63e-6 2.42e-5 ✓ sig. Cluster 86 →

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