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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
Complete unilateral cleft lip Merkel cell carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
MYC(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
microphthalmia, syndromic 12 Microphthalmos
1 gene
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1 of 1 corroborated by 2+ sources
RARB(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
17q11.2 microduplication syndrome Moyamoya angiopathy
1 gene
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1 of 1 corroborated by 2+ sources
NF1(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 77 →
Cervical lymphadenopathy Moyamoya angiopathy
1 gene
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NF1(1)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 77 →
Moyamoya angiopathy Watson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NF1(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 77 →
Complete unilateral cleft lip Salivary gland agenesis
1 gene
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1 of 1 corroborated by 2+ sources
FGF10(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
genetic developmental and epileptic encephalopathy self-limited familial neonatal epilepsy
1 gene
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KCNQ3(1)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SETD2(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth
1 gene
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1 of 1 corroborated by 2+ sources
SETD2(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Smooth surface dental caries Visceral acid sphingomyelinase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
SMPD1(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Smooth surface dental caries Temple-baraitser syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KCNH1(6)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Complex partial epilepsy genetic developmental and epileptic encephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
SCN3A(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Congenital brain dysgenesis due to glutamine synthetase deficiency genetic developmental and epileptic encephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
GLUL(5)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Congenital cerebellar hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
OXR1(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Congenital cerebral hernia Emphysema
1 gene
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1 of 1 corroborated by 2+ sources
PIBF1(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Congenital heart defect, intellectual disability, facial dysmorphism syndrome syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
CDK13(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 224 →
HELIOS deficiency T-cell leukemia-lymphoma
1 gene
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1 of 1 corroborated by 2+ sources
IKZF2(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 147 →
Distal hereditary motor neuropathy Hereditary axonal motor and sensory neuropathy
1 gene
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BICD2(1)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Distal hereditary motor neuropathy hereditary peripheral neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
IGHMBP2(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Emphysema hermansky-pudlak syndrome 10
1 gene
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1 of 1 corroborated by 2+ sources
AP3D1(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay hyperinsulinemic hypoglycemia with polycystic kidney disease
1 gene
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1 of 1 corroborated by 2+ sources
PMM2(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
hypomagnesemia, seizures, and intellectual disability 1 Moyamoya angiopathy
1 gene
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1 of 1 corroborated by 2+ sources
CNNM2(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Ichthyosis vulgaris
1 gene
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1 of 1 corroborated by 2+ sources
FLG(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Naxos disease Ventricular fibrillation
1 gene
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1 of 1 corroborated by 2+ sources
JUP(6)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Brain infarction neuroblastoma, susceptibility to, 3
1 gene
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1 of 1 corroborated by 2+ sources
ALK(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —

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