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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.
0 selected Clear
Disease A ⇵Disease B ⇵Shared genes ⇵Similarity score ⇵Overlap coefficient ⇵P-value ⇵FDR q-value ▲ Shared cluster
Congenital total cataract Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LEMD2(2)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. —
Rett syndrome X-linked retinoschisis
1 gene
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1 of 1 corroborated by 2+ sources
RS1(4)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. —
Hydrops fetalis Yellow nail syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CELSR1(3)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. —
Walker-warburg syndrome Yellow nail syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CELSR1(2)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. —
Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency Congenital anomaly of limb
1 gene
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1 of 1 corroborated by 2+ sources
CHUK(3)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. —
Congenital alveolar capillary dysplasia Vacterl association
1 gene
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1 of 1 corroborated by 2+ sources
FOXF1(2)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. —
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Distal arthrogryposis
1 gene
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1 of 1 corroborated by 2+ sources
NALCN(5)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. —
Congenital finger flexion contractures Distal arthrogryposis
1 gene
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1 of 1 corroborated by 2+ sources
TNNI2(5)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. Cluster 202 →
congenital heart defects, multiple types, 7 Lymphedema
1 gene
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1 of 1 corroborated by 2+ sources
FLT4(3)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. —
Congenital hypoplasia of clavicle Congenital total cataract
1 gene
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LEMD2(1)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. —
Congenital ichthyosis with hypotrichosis syndrome Ichthyosis
1 gene
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ST14(1)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. Cluster 233 →
Congenital limbs-face contractures-hypotonia-developmental delay syndrome Distal arthrogryposis
1 gene
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1 of 1 corroborated by 2+ sources
NALCN(2)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. —
CDKL5 disorder Rett syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CDKL5(5)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. Cluster 61 →
Cerebrovascular trauma Coronary stenosis
1 gene
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1 of 1 corroborated by 2+ sources
PHACTR1(2)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. —
Charcot-Marie-Tooth disease type 2A1 Pheochromocytoma
1 gene
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1 of 1 corroborated by 2+ sources
KIF1B(4)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. —
Childhood-onset benign chorea with striatal involvement Thyroiditis
1 gene
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1 of 1 corroborated by 2+ sources
PDE10A(3)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. —
Choroidal neovascularization Gliosarcoma
1 gene
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VEGFA(1)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. —
Chromosome 22q11.2 deletion syndrome Loeys-dietz syndrome
1 gene
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ABCA3(1)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. —
ciliary dyskinesia, primary, 39 Congenital fibrosis of extraocular muscles
1 gene
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1 of 1 corroborated by 2+ sources
LRRC56(2)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. —
Coats disease Primary aldosteronism
1 gene
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1 of 1 corroborated by 2+ sources
NDP(2)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. —
Cocoon syndrome Congenital anomaly of limb
1 gene
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1 of 1 corroborated by 2+ sources
CHUK(4)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. —
Codas syndrome Mitochondrial encephalomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
LONP1(7)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. Cluster 50 →
Loeys-dietz syndrome Rienhoff syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TGFB3(6)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. —
Patent ductus arteriosus Right ventricle hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
BMP2(2)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. —
Loeys-dietz syndrome Rupture, spontaneous
1 gene
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1 of 1 corroborated by 2+ sources
COL5A1(2)
0.059 1.000 1.04e-3 1.74e-3 ✓ sig. —

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