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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
Creatine deficiency X-linked creatine transporter deficiency
1 gene
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1 of 1 corroborated by 2+ sources
SLC6A8(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 358 →
Cri-du-chat syndrome dyskeratosis congenita, autosomal dominant 2
1 gene
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1 of 1 corroborated by 2+ sources
TERT(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 294 →
Cronkhite-canada syndrome Pilosebaceous disorder
1 gene
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1 of 1 corroborated by 2+ sources
GLI3(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 142 →
Crouzon syndrome Cutis gyrata syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FGFR2(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 85 →
Cryohydrocytosis GLUT1 deficiency syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC2A1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 124 →
Cryohydrocytosis Epilepsy with myoclonic absence
1 gene
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1 of 1 corroborated by 2+ sources
SLC2A1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 124 →
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy Osteopathia striata with cranial sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
CTNNB1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 104 →
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy Vascular calcification
1 gene
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1 of 1 corroborated by 2+ sources
CTNNB1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 104 →
Cutaneous porphyria Thrombocytopenia with dyserythropoietic anemia
1 gene
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1 of 1 corroborated by 2+ sources
GATA1(7)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 125 →
Cutaneous porphyria Dyserythropoietic anemia with abnormal platelets and neutropenia
1 gene
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1 of 1 corroborated by 2+ sources
GATA1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 125 →
Cutaneous porphyria GATA1-Related X-Linked Cytopenia
1 gene
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1 of 1 corroborated by 2+ sources
GATA1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 125 →
Cyclic hematopoiesis Cyclic neutropenia
1 gene
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1 of 1 corroborated by 2+ sources
ELANE(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cystathionine beta-synthase deficiency Periportal fibrosis
1 gene
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PKHD1(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 157 →
Cystathionine beta-synthase deficiency Homocystinuria
1 gene
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1 of 1 corroborated by 2+ sources
CBS(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 157 →
Cystinosis Ocular cystinosis
1 gene
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1 of 1 corroborated by 2+ sources
CTNS(7)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cytochrome-b5 reductase deficiency Dihydrolipoamide dehydrogenase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CYB5R3(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Dacryocystitis Recurrent multifocal osteomyelitis
1 gene
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1 of 1 corroborated by 2+ sources
IL1RN(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 216 →
Dacryocystitis Interleukin 1 receptor antagonist deficiency
1 gene
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IL1RN(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 216 →
Deafness enamel hypoplasia nail defects Spinocerebellar ataxia blindness deafness syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PEX6(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 219 →
Deafness enamel hypoplasia nail defects peroxisome biogenesis disorder due to PEX1 defect
1 gene
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1 of 1 corroborated by 2+ sources
PEX1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 219 →
Deafness with congenital onychodystrophy Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TBC1D24(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 90 →
Deafness with congenital onychodystrophy Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
1 gene
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1 of 1 corroborated by 2+ sources
TBC1D24(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 90 →
Deafness with congenital onychodystrophy Deafness-onychodystrophy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 90 →
Deafness-enamel hypoplasia-nail defects syndrome Spinocerebellar ataxia blindness deafness syndrome
1 gene
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PEX6(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 219 →
Deafness-enamel hypoplasia-nail defects syndrome peroxisome biogenesis disorder due to PEX1 defect
1 gene
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1 of 1 corroborated by 2+ sources
PEX1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 219 →

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