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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
Aortic arch syndrome Autoimmune pulmonary alveolar proteinosis
1 gene
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1 of 1 corroborated by 2+ sources
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 1 →
Aortic arch syndrome Heerfordt syndrome
1 gene
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0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 1 →
Aortic arch syndrome Carbamazepine hypersensitivity
1 gene
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1 of 1 corroborated by 2+ sources
HLA-B(2)
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. —
Aortic arch syndrome Thrombophlebitis
1 gene
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HLA-B(1)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Ambiguous genitalia Denys drash syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WT1(6)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 35 →
Ambiguous genitalia Drash syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WT1(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 35 →
Bifid nail Coach syndrome
1 gene
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OFD1(1)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Chromodomain helicase dna binding protein 8 overgrowth syndrome Congenital ptosis
1 gene
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CHD8(1)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 279 →
Coach syndrome Rhyns syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TMEM67(6)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 306 →
Coach syndrome joubert syndrome 1
1 gene
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1 of 1 corroborated by 2+ sources
INPP5E(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Coach syndrome MORM syndrome
1 gene
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1 of 1 corroborated by 2+ sources
INPP5E(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Coach syndrome OFD1-related ciliopathy
1 gene
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1 of 1 corroborated by 2+ sources
OFD1(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Congenital or early infantile cach syndrome leukoencephalopathy with vanishing white matter 3
1 gene
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1 of 1 corroborated by 2+ sources
EIF2B3(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 170 →
Congenital or early infantile cach syndrome leukoencephalopathy with vanishing white matter 1
1 gene
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1 of 1 corroborated by 2+ sources
EIF2B1(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 170 →
Congenital or early infantile cach syndrome leukoencephalopathy with vanishing white matter 2
1 gene
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1 of 1 corroborated by 2+ sources
EIF2B2(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 170 →
Congenital or early infantile cach syndrome leukoencephalopathy with vanishing white matter 4
1 gene
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1 of 1 corroborated by 2+ sources
EIF2B4(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 170 →
Congenital or early infantile cach syndrome leukoencephalopathy with vanishing white matter 5
1 gene
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1 of 1 corroborated by 2+ sources
EIF2B5(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 170 →
Abcd syndrome Waardenburg-shah syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EDNRB(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Acro-dermo-ungual-lacrimal-tooth syndrome Cleft lip and cleft of alveolar process of maxilla
1 gene
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1 of 1 corroborated by 2+ sources
TP63(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 27 →
Bone mineral density quantitative trait locus Worth syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LRP5(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 98 →
Acro-dermo-ungual-lacrimal-tooth syndrome Congenital foot deformity
1 gene
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1 of 1 corroborated by 2+ sources
TP63(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 27 →
Deaf blind hypopigmentation syndrome Waardenburg-shah syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SOX10(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
immunodeficiency 114, folate-responsive Knobloch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC19A1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 113 →
Intestinal aganglionosis Waardenburg-shah syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EDNRB(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —

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