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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
microcephaly with lissencephaly and/or hydranencephaly Visceral neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
NDE1(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 220 →
Microhydranencephaly Visceral neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
NDE1(3)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 220 →
Hydrophthalmos Microspherophakia
1 gene
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1 of 1 corroborated by 2+ sources
LTBP2(5)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Aortic arch syndrome Middle ear cholesteatoma
1 gene
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IL2(1)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
mitochondrial trifunctional protein deficiency Rickets
1 gene
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1 of 1 corroborated by 2+ sources
HADHB(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Monomelic amyotrophy Neuralgic amyotrophy
1 gene
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1 of 1 corroborated by 2+ sources
SEPTIN9(4)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
MORM syndrome Penile disease
1 gene
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1 of 1 corroborated by 2+ sources
INPP5E(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Mucoepidermoid carcinoma Tumor predisposition syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BAP1(3)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 389 →
Cold paroxysmal hemoglobinuria multiple congenital anomalies-hypotonia-seizures syndrome 3
1 gene
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1 of 1 corroborated by 2+ sources
PIGT(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Hemoglobinuria paroxysmal multiple congenital anomalies-hypotonia-seizures syndrome 3
1 gene
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1 of 1 corroborated by 2+ sources
PIGT(3)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
multiple congenital anomalies-hypotonia-seizures syndrome 3 Paroxysmal nocturnal hemoglobinuria
1 gene
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1 of 1 corroborated by 2+ sources
PIGT(4)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
multiple endocrine neoplasia type 4 Pituitary neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
CDKN1B(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 82 →
Diabetes microvascular complications renal tubular dysgenesis - ACE
1 gene
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1 of 1 corroborated by 2+ sources
ACE(3)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Congenital hyperinsulinism Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
KCNJ11(4)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Congenital hyperinsulinism Diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
ABCC8(4)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Dicer1 syndrome Embryonal nuclear cataract
1 gene
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1 of 1 corroborated by 2+ sources
DICER1(4)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Digitotalar dysmorphism TPM2-related myopathy
1 gene
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1 of 1 corroborated by 2+ sources
TPM2(3)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 202 →
Ductus arteriosus, patent TFAP2B-related congenital heart disease spectrum disorder
1 gene
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1 of 1 corroborated by 2+ sources
TFAP2B(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Collagen vi-related myopathy dystonia 27
1 gene
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1 of 1 corroborated by 2+ sources
COL6A3(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Cardiac valvular dysplasia ehlers-danlos syndrome, cardiac valvular type
1 gene
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1 of 1 corroborated by 2+ sources
COL1A2(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Clubfoot ehlers-danlos syndrome, musculocontractural type 1
1 gene
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1 of 1 corroborated by 2+ sources
CHST14(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 24 →
Eiken skeletal dysplasia Rickets
1 gene
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1 of 1 corroborated by 2+ sources
PTH1R(6)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
17q11.2 microduplication syndrome Embryonal nuclear cataract
1 gene
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NF1(1)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 77 →
Cervical lymphadenopathy Embryonal nuclear cataract
1 gene
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1 of 1 corroborated by 2+ sources
NF1(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 77 →
Embryonal nuclear cataract Watson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NF1(3)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 77 →

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