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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
Congenital microcephaly microcephalic primordial dwarfism due to RTTN deficiency
1 gene
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1 of 1 corroborated by 2+ sources
RTTN(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Congenital microcephaly microcephaly 2, primary, autosomal recessive, with or without cortical malformations
1 gene
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1 of 1 corroborated by 2+ sources
WDR62(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Congenital microcephaly microcephaly with intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
MCPH1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Congenital microcephaly microcephaly with or without short stature
1 gene
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1 of 1 corroborated by 2+ sources
CEP152(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. Cluster 101 →
Congenital microcephaly microcephaly, seizures, and developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
PNKP(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Biliary atresia RP1-related dominant retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RP1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Biliary atresia RP1-related recessive retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RP1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Congenital microcephaly schimke immuno-osseous dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Auditory neuropathy Sensorineural hearing loss thrombocytopenia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DIAPH1(3)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Pharyngeal disorder severe combined immunodeficiency due to CARMIL2 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CARMIL2(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Pituitary stalk interruption syndrome SOX11-related complex neurodevelopmental disorder with or without congenital anomalies
1 gene
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1 of 1 corroborated by 2+ sources
SOX11(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Pharyngeal disorder t-cell immunodeficiency, congenital alopecia, and nail dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
FOXN1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism Pontocerebellar hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
PRDM13(4)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Cerebellar-facial-dental syndrome Congenital microcephaly
1 gene
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1 of 1 corroborated by 2+ sources
BRF1(5)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. Cluster 101 →
Charcot-Marie-Tooth disease axonal type 2F Distal spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
HSPB1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Charcot-Marie-Tooth disease axonal type 2F Hyperplasia
1 gene
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1 of 1 corroborated by 2+ sources
HSPB1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Charcot-Marie-Tooth disease axonal type 2Z Distal spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
MORC2(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Charcot-Marie-Tooth disease type 2D Distal spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
GARS1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. Cluster 15 →
Charcot-Marie-Tooth disease type 2T Membranous glomerulonephritis
1 gene
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1 of 1 corroborated by 2+ sources
MME(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Charcot-Marie-Tooth disease type 4 Distal spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
PRX(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Charcot-Marie-Tooth disease type 4C Distal spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
SH3TC2(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Neuronal ceroid lipofuscinosis
1 gene
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1 of 1 corroborated by 2+ sources
TPP1(8)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
ciliary dyskinesia, primary, 41 Pharyngeal disorder
1 gene
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1 of 1 corroborated by 2+ sources
GAS2L2(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. Cluster 137 →
Cleft palate psychomotor retardation distinctive facial features Hyperplasia
1 gene
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1 of 1 corroborated by 2+ sources
KDM1A(3)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Coasy protein-associated neurodegeneration Pontocerebellar hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
COASY(5)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —

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