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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
Odontochondrodysplasia 2 with hearing loss and diabetes Spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
PLEKHG5(3)
0.026 0.500 4.80e-3 5.92e-3 ✓ sig. —
Autoimmune interstitial lung disease-arthritis syndrome Autoinflammatory syndrome
1 gene
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NLRP12(1)
0.026 0.500 4.80e-3 5.92e-3 ✓ sig. —
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Glycogen storage disease
1 gene
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1 of 1 corroborated by 2+ sources
RBCK1(3)
0.026 0.500 4.80e-3 5.92e-3 ✓ sig. —
ATP6AP2-related disorder X-linked intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
ATP6AP2(2)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. —
Axial spondylometaphyseal dysplasia Cone-rod dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
CFAP410(4)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. —
Cone-rod dystrophy TTLL5-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
TTLL5(6)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. —
Van esch-o’driscoll syndrome X-linked intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
POLA1(5)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. —
Waisman syndrome X-linked intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
RAB39B(5)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. —
Esophageal neoplasms Winchester syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MMP14(5)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. —
X-linked creatine transporter deficiency X-linked intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
SLC6A8(2)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. —
X-linked dystonia-parkinsonism X-linked intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
TAF1(4)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. —
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability X-linked intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
USP9X(5)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. —
X-linked immunodeficiency with magnesium defect, epstein-barr virus infection and neoplasia X-linked intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
MAGT1(5)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. Cluster 115 →
X-linked intellectual disability X-linked intellectual disability-cerebellar hypoplasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
OPHN1(6)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. —
X-linked intellectual disability X-linked intellectual disability, Cabezas type
1 gene
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1 of 1 corroborated by 2+ sources
CUL4B(4)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. —
X-linked intellectual disability X-linked myopathy with excessive autophagy
1 gene
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1 of 1 corroborated by 2+ sources
RPL10(4)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. —
X-linked intellectual disability X-linked parkinsonism-spasticity syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ATP6AP2(3)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. —
X-linked intellectual disability X-linked reticulate pigmentary disorder
1 gene
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1 of 1 corroborated by 2+ sources
POLA1(5)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. —
Cone-rod dystrophy X-linked retinitis pigmentosa
1 gene
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RP2(1)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. —
Esophageal neoplasms Ziegler-huang syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC30A7(2)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. —
Parkinsonism with cognitive impairment X-linked intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
RAB39B(3)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. —
Parkinsonism with spasticity, x-linked X-linked intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
ATP6AP2(4)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. —
Cone-rod dystrophy PCARE-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
PCARE(2)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. Cluster 7 →
Cone-rod dystrophy PDE6C-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
PDE6C(2)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. —
Cone-rod dystrophy RAB28-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RAB28(7)
0.013 1.000 4.81e-3 5.92e-3 ✓ sig. Cluster 7 →

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