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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
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts Eating disorder
1 gene
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1 of 1 corroborated by 2+ sources
ATP8A2(3)
0.014 0.500 9.33e-3 1.06e-2 ✓ sig. —
Eating disorder Hyperprolinemia
1 gene
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1 of 1 corroborated by 2+ sources
ALDH4A1(7)
0.014 0.500 9.33e-3 1.06e-2 ✓ sig. —
Cystine urolithiasis Polycystic kidney disease
1 gene
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SLC7A9(1)
0.020 0.333 9.32e-3 1.06e-2 ✓ sig. —
Developmental delay with impaired growth and dysmorphic facies Distal hereditary motor neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
MORC2(4)
0.025 0.250 9.32e-3 1.06e-2 ✓ sig. —
Periprosthetic osteolysis Specific learning disability
1 gene
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1 of 1 corroborated by 2+ sources
OTUD7A(2)
0.042 0.083 9.32e-3 1.06e-2 ✓ sig. —
Developmental disability Proximal renal tubular acidosis
1 gene
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1 of 1 corroborated by 2+ sources
SLC4A4(5)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Developmental disability PRPF8-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
PRPF8(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Developmental disability Helsmoortel-van der aa syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ADNP(3)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. Cluster 6 →
Developmental disability Hyperekplexia epilepsy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ARHGEF9(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Developmental disability neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
POLR2A(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Developmental disability neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
NARS1(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Developmental disability neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
NARS1(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Developmental disability neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
1 gene
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1 of 1 corroborated by 2+ sources
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. Cluster 6 →
basilicata-akhtar syndrome Developmental disability
1 gene
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1 of 1 corroborated by 2+ sources
MSL3(3)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. Cluster 6 →
immunodeficiency-centromeric instability-facial anomalies syndrome 3 Multiple myeloma
1 gene
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1 of 1 corroborated by 2+ sources
CDCA7(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Developmental disability Intellectual developmental disorder dysmorphic
1 gene
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1 of 1 corroborated by 2+ sources
POU3F3(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. Cluster 6 →
Developmental disability Intellectual developmental disorder short stature behavioral
1 gene
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1 of 1 corroborated by 2+ sources
IQSEC1(4)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Developmental disability intellectual developmental disorder, autosomal dominant 65
1 gene
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1 of 1 corroborated by 2+ sources
KDM4B(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
joubert syndrome 30 Multiple myeloma
1 gene
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1 of 1 corroborated by 2+ sources
ARMC9(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Developmental delay with hypotonia and behavioral abnormalities Multiple myeloma
1 gene
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1 of 1 corroborated by 2+ sources
SRCAP(5)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Developmental disability Diets-jongmans syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KDM3B(4)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Developmental disability spondyloepimetaphyseal dysplasia, genevieve type
1 gene
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1 of 1 corroborated by 2+ sources
NANS(3)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
Developmental disability syndromic X-linked intellectual disability Snyder type
1 gene
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1 of 1 corroborated by 2+ sources
SMS(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
floating-harbor syndrome Multiple myeloma
1 gene
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1 of 1 corroborated by 2+ sources
SRCAP(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —
fraser syndrome 3 Multiple myeloma
1 gene
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1 of 1 corroborated by 2+ sources
GRIP1(2)
0.007 1.000 9.29e-3 1.06e-2 ✓ sig. —

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