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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
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 →
Cenani-lenz syndrome Sclerosteosis
1 gene
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1 of 1 corroborated by 2+ sources
LRP4(8)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Cerebellar malformation Senior-boichis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TMEM67(3)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 306 →
Cervical dysplasia Mitral valve disease
1 gene
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MTHFR(1)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Aphasia Cholesterol embolism
1 gene
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1 of 1 corroborated by 2+ sources
PLAT(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Cholesterol embolism Postictal aphasia
1 gene
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PLAT(1)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Chylomicron retention disease Senior-boichis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DCDC2(3)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 306 →
Coagulation factor deficiency syndrome Congenital factor xiii deficiency
1 gene
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1 of 1 corroborated by 2+ sources
F13B(3)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Coagulation factor deficiency syndrome Factor xiii deficiency
1 gene
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1 of 1 corroborated by 2+ sources
F13B(6)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Hallermanns syndrome Schwartz-lelek syndrome
1 gene
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GJA1(1)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Hallopeau siemens disease Nail dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
COL7A1(2)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 160 →
Hepatic adenoma Insulin resistant diabetes mellitus
1 gene
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1 of 1 corroborated by 2+ sources
HNF1A(4)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. —
Choroidal dystrophy Retinitis pigmentosa, digenic
1 gene
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1 of 1 corroborated by 2+ sources
PRPH2(5)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 45 →
Choroidal sclerosis Retinitis pigmentosa, digenic
1 gene
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PRPH2(1)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 45 →
Rhabdoid tumor Rhabdoid tumor predisposition syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SMARCB1(7)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 120 →
Rhabdoid tumor predisposition syndrome Thoracic neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
SMARCA4(6)
0.250 0.500 2.60e-4 6.51e-4 ✓ sig. Cluster 120 →

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