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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
Craniopharyngioma Osteopathia striata with cranial sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
CTNNB1(3)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 104 →
Osteopathia striata with cranial sclerosis Vascular calcification
1 gene
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1 of 1 corroborated by 2+ sources
CTNNB1(3)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 104 →
Camurati-engelmann syndrome Osteopetrosis and infantile neuroaxonal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
LRP5(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 98 →
Branchiootic syndrome Otofaciocervical syndrome
1 gene
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1 of 1 corroborated by 2+ sources
EYA1(6)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 145 →
Lethal acantholytic epidermolysis bullosa Ventricular arrhythmia
1 gene
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1 of 1 corroborated by 2+ sources
DSP(3)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 201 →
macrothrombocytopenia, isolated Parkinson-dementia complex of guam
1 gene
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1 of 1 corroborated by 2+ sources
TRPM7(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 255 →
Congenital scoliosis Crst syndrome
1 gene
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FBN1(1)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 52 →
Corpus callosum agenesis Urethral syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Cortical occipital malformations Developmental delay with language impairment and movement disorder
1 gene
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1 of 1 corroborated by 2+ sources
TBR1(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 275 →
Cortical occipital malformations Intellectual developmental disorder autism speech
1 gene
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1 of 1 corroborated by 2+ sources
TBR1(3)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 275 →
Craniofaciosynostosis Encephalocraniocutaneous lipomatosis
1 gene
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1 of 1 corroborated by 2+ sources
FGFR1(6)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 185 →
Ameloblastoma Craniopharyngioma
1 gene
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1 of 1 corroborated by 2+ sources
BRAF(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Cri-du-chat syndrome Tongue cancer
1 gene
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1 of 1 corroborated by 2+ sources
TERT(3)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Crst syndrome Dilatation of pulmonary artery
1 gene
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FBN1(1)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 52 →
Childhood-onset glut1 deficiency syndrome 2 Cryohydrocytosis
1 gene
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1 of 1 corroborated by 2+ sources
SLC2A1(4)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Currarino syndrome Sacral defect
1 gene
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1 of 1 corroborated by 2+ sources
PCSK5(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 94 →
Deafness, digenic Senter syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GJB2(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Deafness, digenic Vohwinkel syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GJB2(4)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 322 →
Deletion 5q35 syndrome Splenic hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
NKX2-5(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 161 →
Combined osteogenesis imperfecta and ehlers-danlos syndrome Dermatofibrosarcoma protuberans
1 gene
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1 of 1 corroborated by 2+ sources
COL1A1(5)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 138 →
Arteriovenous malformations Encephalocraniocutaneous lipomatosis
1 gene
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1 of 1 corroborated by 2+ sources
KRAS(3)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Arteriovenous malformations Toriello-carey syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KRAS(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 40 →
Arteriovenous malformations Port-wine stain
1 gene
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1 of 1 corroborated by 2+ sources
RASA1(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 40 →
Arthralgia Mevalonate kinase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
MVK(3)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 316 →
Atrioventricular excitation abnormality Keppen-lubinsky syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MYH6(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 318 →

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