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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
intellectual disability, X-linked 107 Partington syndrome
1 gene
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1 of 1 corroborated by 2+ sources
STEEP1(2)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. Cluster 320 →
Intestinal disease normophosphatemic familial tumoral calcinosis
1 gene
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1 of 1 corroborated by 2+ sources
SAMD9(2)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Congenital hypothyroidism Iodide peroxidase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
TPO(3)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. Cluster 88 →
Angle closure glaucoma isolated microphthalmia 6
1 gene
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1 of 1 corroborated by 2+ sources
PRSS56(2)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Bicuspid aortic valve keutel syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MGP(3)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
kufor-rakeb syndrome Neurodegeneration with brain iron accumulation
1 gene
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1 of 1 corroborated by 2+ sources
ATP13A2(2)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. Cluster 92 →
Blindness Lactic acidosis
1 gene
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PMPCA(1)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Blindness LCA5-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
LCA5(2)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. Cluster 241 →
pancreatic agenesis 1 Permanent neonatal diabetes mellitus
1 gene
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1 of 1 corroborated by 2+ sources
PDX1(5)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Pancreatic beta-cell agenesis with neonatal diabetes mellitus Permanent neonatal diabetes mellitus
1 gene
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1 of 1 corroborated by 2+ sources
PTF1A(5)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Pancytopenia pancytopenia due to IKZF1 mutations
1 gene
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1 of 1 corroborated by 2+ sources
IKZF1(4)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
pancytopenia due to IKZF1 mutations Rosacea
1 gene
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1 of 1 corroborated by 2+ sources
IKZF1(2)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Neurodegeneration with brain iron accumulation Pantothenate kinase-associated neurodegeneration
1 gene
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1 of 1 corroborated by 2+ sources
PANK2(5)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. Cluster 92 →
Hairy cell leukemia Papillary thyroid cancer
1 gene
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1 of 1 corroborated by 2+ sources
BRAF(2)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Congenital digestive system anomaly Papillary thyroid cancer
1 gene
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1 of 1 corroborated by 2+ sources
RET(2)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. Cluster 152 →
Medullary thyroid cancer Papillary thyroid cancer
1 gene
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RET(1)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. Cluster 152 →
multiple endocrine neoplasia type 2B Papillary thyroid cancer
1 gene
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1 of 1 corroborated by 2+ sources
RET(2)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. Cluster 152 →
Bicuspid aortic valve Periodic paralysis with later-onset distal motor neuropathy
1 gene
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ATP8(1)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Cleft palate and bilateral cleft lip Periodic paralysis with later-onset distal motor neuropathy
1 gene
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ATP8(1)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. Cluster 32 →
Congenital pectus carinatum Perrault syndrome
1 gene
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FBN1(1)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Coronary artery dissection Perrault syndrome
1 gene
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FBN1(1)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Perrault syndrome perrault syndrome 3
1 gene
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1 of 1 corroborated by 2+ sources
CLPP(7)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Perrault syndrome perrault syndrome 2
1 gene
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1 of 1 corroborated by 2+ sources
HARS2(6)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. Cluster 336 →
Congenital epicanthus pitt-hopkins syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TCF4(2)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —
Neurodegeneration with brain iron accumulation PLA2G6-associated neurodegeneration
1 gene
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1 of 1 corroborated by 2+ sources
PLA2G6(6)
0.067 1.000 9.09e-4 1.58e-3 ✓ sig. —

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