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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
Masa syndrome X-linked hydrocephalus syndrome
1 gene
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1 of 1 corroborated by 2+ sources
L1CAM(6)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 274 →
X-linked complicated corpus callosum dysgenesis X-linked hydrocephalus syndrome
1 gene
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1 of 1 corroborated by 2+ sources
L1CAM(4)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 274 →
X-linked complicated spastic paraplegia X-linked hydrocephalus syndrome
1 gene
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1 of 1 corroborated by 2+ sources
L1CAM(4)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 274 →
X-linked hydrocephalus syndrome X-linked hydrocephalus with stenosis of the aqueduct of sylvius
1 gene
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1 of 1 corroborated by 2+ sources
L1CAM(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 274 →
Deafness, nonsyndromic sensorineural, mitochondrial Xq21 microdeletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POU3F4(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 251 →
Hearing loss with stapes fixation Xq21 microdeletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POU3F4(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
long chain 3-hydroxyacyl-coa dehydrogenase deficiency Trifunctional protein deficiency
1 gene
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1 of 1 corroborated by 2+ sources
HADHA(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
LZTR1-related schwannomatosis Schwannomatosis
1 gene
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1 of 1 corroborated by 2+ sources
LZTR1(5)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Macronodular adrenal hyperplasia Primary bilateral macronodular adrenal hyperplasia
1 gene
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1 of 1 corroborated by 2+ sources
ARMC5(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 409 →
Malignant hypertension Steroid 17-alpha-monooxygenase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CYP17A1(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Malignant hypertension renal tubular dysgenesis of genetic origin
1 gene
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1 of 1 corroborated by 2+ sources
REN(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 95 →
Malnutrition Microvascular angina
1 gene
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1 of 1 corroborated by 2+ sources
MTHFR(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
homocystinuria due to methylene tetrahydrofolate reductase deficiency Malnutrition
1 gene
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1 of 1 corroborated by 2+ sources
MTHFR(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
Malnutrition methylcobalamin deficiency type cblG
1 gene
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1 of 1 corroborated by 2+ sources
MTR(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 121 →
Mandibuloacral dysostosis Severe lipodystrophic laminopathy
1 gene
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1 of 1 corroborated by 2+ sources
LMNA(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 65 →
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Mandibuloacral dysostosis
1 gene
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1 of 1 corroborated by 2+ sources
LMNA(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 65 →
Lipoatrophic diabetes mellitus Mandibuloacral dysostosis
1 gene
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LMNA(1)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 65 →
maternal riboflavin deficiency Riboflavin transporter deficiency
1 gene
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1 of 1 corroborated by 2+ sources
SLC52A1(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —
melanoma, cutaneous malignant, susceptibility to, 3 Well-differentiated liposarcoma
1 gene
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1 of 1 corroborated by 2+ sources
CDK4(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 342 →
methionine adenosyltransferase deficiency S-adenosylhomocysteine hydrolase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
MAT1A(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 83 →
microcephaly with lissencephaly and/or hydranencephaly Microlissencephaly
1 gene
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1 of 1 corroborated by 2+ sources
NDE1(3)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 220 →
Microhydranencephaly Microlissencephaly
1 gene
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1 of 1 corroborated by 2+ sources
NDE1(4)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 220 →
Mitochondrial hepatopathy Schilder disease
1 gene
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1 of 1 corroborated by 2+ sources
POLG(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 97 →
Mitochondrial hepatopathy perrault syndrome 5
1 gene
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1 of 1 corroborated by 2+ sources
TWNK(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. Cluster 97 →
mitochondrial trifunctional protein deficiency Trifunctional protein deficiency
1 gene
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1 of 1 corroborated by 2+ sources
HADHB(2)
0.250 1.000 1.95e-4 5.35e-4 ✓ sig. —

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