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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
Frontotemporal dementia with or without amyotrophic lateral sclerosis inherited neurodegenerative disorder
1 gene
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1 of 1 corroborated by 2+ sources
KIF5A(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Hereditary corneal dystrophy inherited prekallikrein deficiency
1 gene
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1 of 1 corroborated by 2+ sources
KLKB1(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Atrioventricular septal defect Intellectual developmental disorder language autism
1 gene
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1 of 1 corroborated by 2+ sources
FOXP1(3)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Congenital nonspherocytic hemolytic anemia Intellectual developmental disorder microcephaly cerebellar
1 gene
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1 of 1 corroborated by 2+ sources
CASK(4)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Intellectual developmental disorder dysmorphic ocular microcephaly peripheral Intestinal neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
CTNNB1(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 104 →
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy Intestinal neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
CTNNB1(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 104 →
Brain tumor-polyposis syndrome Intestinal neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
APC(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
hemochromatosis type 1 Intestinal obstruction
1 gene
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1 of 1 corroborated by 2+ sources
HFE(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Congenital idiopathic intestinal pseudoobstruction Intestinal obstruction
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(5)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
isolated microphthalmia 6 Nanophthalmos
1 gene
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1 of 1 corroborated by 2+ sources
PRSS56(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 56 →
Ductal carcinoma of breast juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SMAD4(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Hydronephrosis Kidney atrophy
1 gene
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0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 24 →
Megaloblastic anemia Thiamine-responsive megaloblastic anemia
1 gene
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1 of 1 corroborated by 2+ sources
SLC19A2(6)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Lipoma Thiamine-responsive megaloblastic anemia
1 gene
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1 of 1 corroborated by 2+ sources
SLC19A2(7)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 37 →
Thyrotoxic periodic paralysis X-linked epilepsy with or without intellectual disability and dysmorphic features
1 gene
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1 of 1 corroborated by 2+ sources
GABRA3(5)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 1 →
Cachexia TNF receptor 1-associated periodic fever syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Tonic-clonic epilepsy Trismus
1 gene
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1 of 1 corroborated by 2+ sources
BCHE(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Congenital structural myopathy TPM3-related myopathy
1 gene
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1 of 1 corroborated by 2+ sources
TPM3(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Paralysis Trismus
1 gene
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1 of 1 corroborated by 2+ sources
BCHE(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 378 →
Congenital stationary night blindness TRPM1-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
TRPM1(3)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 151 →
Congenital nonspherocytic hemolytic anemia Uridine monophosphate hydrolase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
NT5C3A(3)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 87 →
dyskeratosis congenita, autosomal dominant 2 Urinary system neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
TERT(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Lipoma Uterine benign neoplasm
1 gene
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BET1L(1)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 37 →
Congenital aneurysm of ascending aorta Vascular ehlers-danlos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COL3A1(2)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. —
Megaloblastic anemia Vitamin b12-unresponsive methylmalonic acidemia
1 gene
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1 of 1 corroborated by 2+ sources
FUT2(3)
0.077 1.000 7.79e-4 1.41e-3 ✓ sig. Cluster 106 →

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