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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 hypoplasia/atrophy, epilepsy, and global developmental delay Ocular anomalies with axonal neuropathy and developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
ATAD3A(2)
0.026 0.500 4.67e-3 5.79e-3 ✓ sig. —
Microphthalmos Oculoauricular syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HMX1(7)
0.026 0.500 4.67e-3 5.79e-3 ✓ sig. —
Oculopharyngeal muscular dystrophy T-cell leukemia-lymphoma
1 gene
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1 of 1 corroborated by 2+ sources
0.026 0.500 4.67e-3 5.79e-3 ✓ sig. —
Distal hereditary motor neuropathy Odontochondrodysplasia 2 with hearing loss and diabetes
1 gene
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1 of 1 corroborated by 2+ sources
PLEKHG5(5)
0.026 0.500 4.67e-3 5.79e-3 ✓ sig. —
Cerebral folate deficiency Ocular hypotension
1 gene
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CIC(1)
0.026 0.500 4.67e-3 5.79e-3 ✓ sig. —
Charcot-Marie-Tooth disease type 2 Distal hereditary motor neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
NEFL(2)
0.026 0.500 4.67e-3 5.79e-3 ✓ sig. Cluster 15 →
Peho syndrome syndromic intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
KIF1A(3)
0.026 0.500 4.67e-3 5.79e-3 ✓ sig. —
Distal hereditary motor neuropathy Primary coenzyme q10 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
COQ7(5)
0.026 0.500 4.67e-3 5.79e-3 ✓ sig. —
Leber congenital amaurosis PDE6A-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
PDE6A(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Leber congenital amaurosis PRPF31-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
PRPF31(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. Cluster 7 →
Leber congenital amaurosis RD3-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RD3(7)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
AIPL1-related retinopathy Leber congenital amaurosis
1 gene
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1 of 1 corroborated by 2+ sources
AIPL1(7)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Alpha-n-acetylgalactosaminidase deficiency Arthrogryposis multiplex congenita
1 gene
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1 of 1 corroborated by 2+ sources
NAGA(4)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Arthrogryposis multiplex congenita Trismus-pseudocamptodactyly syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MYH8(3)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Leber congenital amaurosis TTC8-related ciliopathy
1 gene
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1 of 1 corroborated by 2+ sources
TTC8(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Leber congenital amaurosis TUBB4B-related ciliopathy
1 gene
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1 of 1 corroborated by 2+ sources
TUBB4B(5)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. Cluster 7 →
Barrett esophagus Ulnar-fibular ray defect and brachydactyly
1 gene
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1 of 1 corroborated by 2+ sources
RP1L1(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Arthrogryposis multiplex congenita Vexas syndrome
1 gene
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1 of 1 corroborated by 2+ sources
UBA1(5)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Arthrogryposis multiplex congenita Wieacker syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ZC4H2(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Arthrogryposis multiplex congenita Wieacker-wolff syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ZC4H2(6)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Leber congenital amaurosis X-linked retinitis pigmentosa
1 gene
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RP2(1)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome Leber congenital amaurosis
1 gene
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1 of 1 corroborated by 2+ sources
SLC38A8(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. Cluster 7 →
Goldmann-favre syndrome Leber congenital amaurosis
1 gene
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1 of 1 corroborated by 2+ sources
NR2E3(3)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
GRM6-related retinopathy Leber congenital amaurosis
1 gene
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1 of 1 corroborated by 2+ sources
GRM6(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. —
Leber congenital amaurosis retinitis pigmentosa 65
1 gene
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1 of 1 corroborated by 2+ sources
CDHR1(2)
0.014 1.000 4.68e-3 5.79e-3 ✓ sig. Cluster 7 →

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