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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
Acromegaloid facial appearance syndrome hypertrichotic osteochondrodysplasia Cantu type
1 gene
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1 of 1 corroborated by 2+ sources
ABCC9(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 234 →
Acromegaloid facial appearance syndrome dilated cardiomyopathy 1O
1 gene
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1 of 1 corroborated by 2+ sources
ABCC9(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 234 →
ACTB-associated syndromic thrombocytopenia Becker nevus syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ACTB(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 186 →
ACTB-associated syndromic thrombocytopenia Congenital smooth muscle hamartoma
1 gene
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1 of 1 corroborated by 2+ sources
ACTB(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 186 →
ACTB-associated syndromic thrombocytopenia Developmental malformations-deafness-dystonia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ACTB(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 186 →
ACTB-associated syndromic thrombocytopenia Dystonia-deafness syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ACTB(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 186 →
Acys amyloidosis leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy
1 gene
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1 of 1 corroborated by 2+ sources
CST3(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Adrenocortical carcinoma Choroid plexus carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
TP53(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 3 →
Adrenocortical carcinoma Choroid plexus papilloma
1 gene
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1 of 1 corroborated by 2+ sources
TP53(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 3 →
Adult polyglucosan body disease glycogen storage disease due to glycogen branching enzyme deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GBE1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Adult-onset dystonia-parkinsonism Dystonia-parkinsonism-hypermanganesemia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Adult-onset proximal spinal muscular atrophy amyotrophic lateral sclerosis type 8
1 gene
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1 of 1 corroborated by 2+ sources
VAPB(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
AFG3L2-related optic atrophy and/or spastic ataxia spectrum Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AFG3L2(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Agat deficiency Arginine-glycine amidinotransferase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GATM(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 99 →
Agnathia-otocephaly Dysgnathia complex
1 gene
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1 of 1 corroborated by 2+ sources
PRRX1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Agnathia-otocephaly Retrognathia
1 gene
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1 of 1 corroborated by 2+ sources
PRRX1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome Xia-gibbs syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AHDC1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
AKT2-related familial partial lipodystrophy hypoinsulinemic hypoglycemia and body hemihypertrophy
1 gene
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AKT2(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Aland island eye disease CACNA1F-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
CACNA1F(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 84 →
Aldosterone-producing adenoma Breast cyst
1 gene
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1 of 1 corroborated by 2+ sources
CACNA1D(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 361 →
Aldosterone-producing adenoma Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CACNA1D(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 361 →
Aldosterone-producing adenoma sinoatrial node dysfunction and deafness
1 gene
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1 of 1 corroborated by 2+ sources
CACNA1D(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 361 →
Alkuraya-kucinskas syndrome Right aortic arch
1 gene
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1 of 1 corroborated by 2+ sources
BLTP1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Alpha thalassemia x-linked intellectual disability Atr-x syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ATRX(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 122 →
Alpha thalassemia x-linked intellectual disability X-linked alpha-thalassemia-intellectual disability syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ATRX(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 122 →

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