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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
8q24.3 microdeletion syndrome syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
PUF60(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 224 →
Acid sphingomyelinase deficiency Smooth surface dental caries
1 gene
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1 of 1 corroborated by 2+ sources
SMPD1(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
acute myeloid leukemia Emphysema
1 gene
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1 of 1 corroborated by 2+ sources
CEBPA(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
AHDC1(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Antecubital pterygium syndrome Smooth surface dental caries
1 gene
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1 of 1 corroborated by 2+ sources
PSD3(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 287 →
Anterior maxillary protrusion-strabismus-intellectual disability syndrome syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
SOBP(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Aplasia of lacrimal and salivary glands Complete unilateral cleft lip
1 gene
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1 of 1 corroborated by 2+ sources
FGF10(5)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Arboleda-tham syndrome syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
KAT6A(3)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
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 →
Cerebellar hypoplasia Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay
1 gene
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VLDLR(1)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Brain infarction Cerebral arterial disease
1 gene
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ADGRE3(1)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Charcot-Marie-Tooth disease axonal type 2F Distal hereditary motor neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
HSPB1(7)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Charcot-Marie-Tooth disease axonal type 2Z Distal hereditary motor neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
MORC2(2)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —
Charcot-Marie-Tooth disease type 2D Distal hereditary motor neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
GARS1(7)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. Cluster 15 →
Chopra-amiel-gordon syndrome Smooth surface dental caries
1 gene
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1 of 1 corroborated by 2+ sources
ANKRD17(5)
0.027 1.000 2.34e-3 3.24e-3 ✓ sig. —

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