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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
Perisylvian syndrome Polymicrogyria
6 genes
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5 of 6 corroborated by 2+ sources
CCND2(2), PI4KA(2), ADGRG1(3), SRPX2(2), TUBB2B(2), SCN3A(1)
0.200 0.600 2.00e-15 2.96e-14 ✓ sig. —
Bilateral perisylvian polymicrogyria Perisylvian syndrome
3 genes
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3 of 3 corroborated by 2+ sources
PI4KA(2), ADGRG1(2), SRPX2(2)
0.273 1.000 1.97e-10 1.92e-9 ✓ sig. —
Cortical development malformation Polymicrogyria
5 genes
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4 of 5 corroborated by 2+ sources
DHX37(1), DYNC1H1(2), AKT3(2), WDR62(2), TUBB2B(3)
0.104 0.200 5.81e-10 5.40e-9 ✓ sig. —
Bilateral perisylvian polymicrogyria Polymicrogyria
3 genes
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3 of 3 corroborated by 2+ sources
PI4KA(3), ADGRG1(4), SRPX2(2)
0.115 1.000 3.78e-9 3.23e-8 ✓ sig. —
Cortical dysplasia with other brain malformations Polymicrogyria
3 genes
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3 of 3 corroborated by 2+ sources
DYNC1H1(3), ADGRG1(4), TUBB2B(4)
0.075 0.176 2.53e-6 1.39e-5 ✓ sig. —
amyotrophic lateral sclerosis type 11 Bilateral parasagittal parieto-occipital polymicrogyria
1 gene
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1 of 1 corroborated by 2+ sources
FIG4(5)
0.500 1.000 6.49e-5 2.32e-4 ✓ sig. Cluster 310 →
fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies hemiplegic migraine-developmental and epileptic encephalopathy spectrum
1 gene
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ATP1A2(1)
0.500 1.000 6.49e-5 2.32e-4 ✓ sig. —
Penile hypospadia Polymicrogyria
2 genes
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1 of 2 corroborated by 2+ sources
FIG4(3), PEX1(1)
0.063 0.250 7.04e-5 2.51e-4 ✓ sig. —
Ck syndrome Perisylvian polymicrogyria
1 gene
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1 of 1 corroborated by 2+ sources
NSDHL(7)
0.333 1.000 1.30e-4 3.91e-4 ✓ sig. Cluster 390 →
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects Perisylvian polymicrogyria
1 gene
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1 of 1 corroborated by 2+ sources
NSDHL(3)
0.333 1.000 1.30e-4 3.91e-4 ✓ sig. Cluster 390 →
Bilateral generalized polymicrogyria microcephalic primordial dwarfism due to RTTN deficiency
1 gene
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1 of 1 corroborated by 2+ sources
RTTN(3)
0.333 1.000 1.30e-4 3.91e-4 ✓ sig. —
Alternating hemiplegia of childhood fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
1 gene
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1 of 1 corroborated by 2+ sources
ATP1A2(3)
0.333 1.000 1.30e-4 3.91e-4 ✓ sig. —
Bilateral parasagittal parieto-occipital polymicrogyria Yunis-varon syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FIG4(7)
0.333 1.000 1.30e-4 3.91e-4 ✓ sig. Cluster 310 →
Bilateral frontoparietal polymicrogyria Bilateral perisylvian polymicrogyria
1 gene
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1 of 1 corroborated by 2+ sources
ADGRG1(4)
0.250 1.000 1.95e-4 5.32e-4 ✓ sig. Cluster 263 →
Dysphasia fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
1 gene
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1 of 1 corroborated by 2+ sources
ATP1A2(2)
0.200 1.000 2.60e-4 6.48e-4 ✓ sig. —
Bilateral parasagittal parieto-occipital polymicrogyria Micropenis
1 gene
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1 of 1 corroborated by 2+ sources
FIG4(4)
0.200 1.000 2.60e-4 6.48e-4 ✓ sig. Cluster 310 →
Benign neonatal epilepsy fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
1 gene
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1 of 1 corroborated by 2+ sources
ATP1A2(2)
0.200 1.000 2.60e-4 6.48e-4 ✓ sig. —
fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies Hemiplegic migraine
1 gene
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1 of 1 corroborated by 2+ sources
ATP1A2(3)
0.167 1.000 3.25e-4 7.68e-4 ✓ sig. —
Bilateral perisylvian polymicrogyria Combined immunodeficiency-multiple intestinal atresia
1 gene
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PI4KA(1)
0.200 0.500 3.90e-4 8.64e-4 ✓ sig. Cluster 263 →
Bilateral parasagittal parieto-occipital polymicrogyria Penile hypospadia
1 gene
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1 of 1 corroborated by 2+ sources
FIG4(4)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Bilateral perisylvian polymicrogyria Heparin cofactor 2 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
PI4KA(2)
0.167 0.333 5.84e-4 1.15e-3 ✓ sig. Cluster 263 →
Bilateral perisylvian polymicrogyria Combined immunodeficiency, enteropathy spectrum
1 gene
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1 of 1 corroborated by 2+ sources
PI4KA(2)
0.167 0.333 5.84e-4 1.15e-3 ✓ sig. Cluster 263 →
Bilateral perisylvian polymicrogyria Gastrointestinal defects and immunodeficiency syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PI4KA(4)
0.167 0.333 5.84e-4 1.15e-3 ✓ sig. Cluster 263 →
Arachnodactyly Perisylvian polymicrogyria
1 gene
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NSDHL(1)
0.143 0.500 6.49e-4 1.24e-3 ✓ sig. Cluster 390 →
Bilateral frontoparietal polymicrogyria Perisylvian syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ADGRG1(5)
0.091 1.000 6.49e-4 1.24e-3 ✓ sig. —

Showing 25 of 54 matching pairs, sorted by significance (ascending). Click a column header to sort.