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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
karyomegalic interstitial nephritis Lynch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FAN1(3)
0.020 1.000 3.18e-3 4.17e-3 ✓ sig. —
Knobloch syndrome Megaloblastic anemia
1 gene
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1 of 1 corroborated by 2+ sources
SLC19A1(4)
0.063 0.250 3.11e-3 4.10e-3 ✓ sig. —
Knobloch syndrome Transposition of the great arteries
1 gene
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SLC19A1(1)
0.067 0.250 2.85e-3 3.81e-3 ✓ sig. Cluster 113 →
Severe congenital neutropenia Wiskott-aldrich syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WAS(7)
0.042 0.500 2.86e-3 3.81e-3 ✓ sig. —
Barth syndrome Left ventricular noncompaction cardiomyopathy
1 gene
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1 of 1 corroborated by 2+ sources
0.026 1.000 2.47e-3 3.37e-3 ✓ sig. Cluster 4 →
marshall-smith syndrome Strabismus
1 gene
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1 of 1 corroborated by 2+ sources
NFIX(2)
0.029 1.000 2.21e-3 3.11e-3 ✓ sig. —
Chromodomain helicase dna binding protein 8 overgrowth syndrome Gastrointestinal disease
1 gene
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1 of 1 corroborated by 2+ sources
CHD8(2)
0.030 1.000 2.08e-3 2.97e-3 ✓ sig. —
Chudley-mccullough syndrome Spherocytosis
1 gene
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1 of 1 corroborated by 2+ sources
SPTB(3)
0.077 0.333 1.95e-3 2.83e-3 ✓ sig. —
Hypomyelinating leukodystrophy Wiedemann-rautenstrauch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POLR3A(4)
0.032 1.000 1.95e-3 2.83e-3 ✓ sig. —
Chromodomain helicase dna binding protein 8 overgrowth syndrome Congenital myasthenic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CHD8(2)
0.033 1.000 1.88e-3 2.76e-3 ✓ sig. —
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Small cell carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
MTOR(2)
0.083 0.333 1.75e-3 2.61e-3 ✓ sig. —
Acro-dermo-ungual-lacrimal-tooth syndrome Bladder exstrophy and epispadias complex
1 gene
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1 of 1 corroborated by 2+ sources
TP63(2)
0.036 1.000 1.75e-3 2.61e-3 ✓ sig. Cluster 27 →
Leukodystrophy Wiedemann-rautenstrauch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POLR3A(3)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Leiomyosarcoma Pseudo-torch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
USP18(6)
0.100 0.333 1.36e-3 2.15e-3 ✓ sig. Cluster 213 →
Brown tendon sheath syndrome Torsion dystonia
1 gene
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1 of 1 corroborated by 2+ sources
TUBB4A(3)
0.100 0.333 1.36e-3 2.15e-3 ✓ sig. —
Focal cortical dysplasia overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
1 gene
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1 of 1 corroborated by 2+ sources
MTOR(4)
0.100 0.333 1.36e-3 2.15e-3 ✓ sig. —
Chudley-mccullough syndrome Hereditary elliptocytosis
1 gene
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1 of 1 corroborated by 2+ sources
SPTB(4)
0.100 0.333 1.36e-3 2.15e-3 ✓ sig. Cluster 400 →
Hepatic veno occlusive disease Pseudo-torch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
OCLN(6)
0.100 0.333 1.36e-3 2.15e-3 ✓ sig. —
Acro-dermo-ungual-lacrimal-tooth syndrome Bladder exstrophy
1 gene
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1 of 1 corroborated by 2+ sources
TP63(2)
0.045 1.000 1.36e-3 2.15e-3 ✓ sig. Cluster 27 →
Aprosencephaly Coach syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. —
Coach syndrome Encephalocele
1 gene
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1 of 1 corroborated by 2+ sources
CC2D2A(3)
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. —
Dyslipidemias H syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC29A3(4)
0.053 1.000 1.17e-3 1.90e-3 ✓ sig. —
Discordant ventriculoarterial connection Knobloch syndrome
1 gene
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SLC19A1(1)
0.125 0.250 1.04e-3 1.74e-3 ✓ sig. Cluster 113 →
Clear cell papillary renal cell carcinoma Waardenburg-shah syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MITF(2)
0.125 0.250 1.04e-3 1.74e-3 ✓ sig. —
Bonnevie-ullrich syndrome Congenital isolated growth hormone deficiency
1 gene
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GH1(1)
0.111 0.500 9.09e-4 1.58e-3 ✓ sig. —

Showing 25 of 202 matching pairs, sorted by significance (descending). Click a column header to sort.