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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
Hepatomegaly megalencephalic leukoencephalopathy with subcortical cysts 1
1 gene
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1 of 1 corroborated by 2+ sources
MLC1(2)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. —
methylmalonic acidemia with homocystinuria, type cblJ Ocular sarcoidosis
1 gene
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1 of 1 corroborated by 2+ sources
ABCD4(2)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. —
Bailey-Bloch congenital myopathy Hepatomegaly
1 gene
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1 of 1 corroborated by 2+ sources
STAC3(2)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. —
BBS5-related ciliopathy Ocular sarcoidosis
1 gene
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1 of 1 corroborated by 2+ sources
BBS5(2)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. —
COG6-congenital disorder of glycosylation Ocular sarcoidosis
1 gene
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1 of 1 corroborated by 2+ sources
COG6(2)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. —
Ocular sarcoidosis scalp-ear-nipple syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KCTD1(2)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. Cluster 1 →
Ocular sarcoidosis severe combined immunodeficiency due to CORO1A deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CORO1A(2)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. —
Hepatomegaly spinocerebellar ataxia, autosomal recessive 25
1 gene
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1 of 1 corroborated by 2+ sources
ATG5(2)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. —
Hepatomegaly spinocerebellar ataxia, autosomal recessive 31
1 gene
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1 of 1 corroborated by 2+ sources
ATG7(2)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. —
Anovulation Hepatomegaly
1 gene
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1 of 1 corroborated by 2+ sources
NR5A2(2)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. —
Hepatomegaly Native american myopathy
1 gene
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1 of 1 corroborated by 2+ sources
STAC3(3)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. —
Joubert syndrome nemaline myopathy 10
1 gene
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1 of 1 corroborated by 2+ sources
LMOD3(2)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. —
nephronophthisis 2 Ocular sarcoidosis
1 gene
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1 of 1 corroborated by 2+ sources
INVS(2)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. —
Joubert syndrome nephronophthisis 4
1 gene
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1 of 1 corroborated by 2+ sources
NPHP4(2)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. Cluster 8 →
H syndrome Hepatomegaly
1 gene
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1 of 1 corroborated by 2+ sources
SLC29A3(2)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. —
Congenital cerebral hernia Joubert syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIBF1(5)
0.017 1.000 3.77e-3 4.81e-3 ✓ sig. Cluster 8 →
Birk-aharoni syndrome Neurodevelopmental disorder
2 genes
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1 of 2 corroborated by 2+ sources
PSMC1(5), NRDE2(1)
0.002 1.000 3.71e-3 4.74e-3 ✓ sig. —
Buratti-harel syndrome Neurodevelopmental disorder
2 genes
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1 of 2 corroborated by 2+ sources
LONP2(1), SIAH1(5)
0.002 1.000 3.71e-3 4.74e-3 ✓ sig. Cluster 6 →
Blepharoptosis Marinesco-sjogren syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SIL1(6)
0.045 0.333 3.70e-3 4.74e-3 ✓ sig. —
neurometabolic disorder due to serine deficiency Neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
PHGDH(2)
0.045 0.333 3.70e-3 4.74e-3 ✓ sig. —
nephrotic syndrome, type 20 Pancreatitis
1 gene
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1 of 1 corroborated by 2+ sources
TBC1D8B(2)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
Movement disorder Neurodegeneration peripheral neuropathy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CLCN6(2)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
Movement disorder neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
CLCN6(2)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —
Neutropenia Neutrophilic leukemia
1 gene
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1 of 1 corroborated by 2+ sources
CSF3R(2)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. Cluster 209 →
Bilateral vestibulopathy Osteosarcoma
1 gene
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1 of 1 corroborated by 2+ sources
RFC1(2)
0.017 1.000 3.70e-3 4.74e-3 ✓ sig. —

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