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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
nephronophthisis 1 Senior-loken syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NPHP1(6)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 8 →
nephronophthisis 2 Senior-loken syndrome
1 gene
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1 of 1 corroborated by 2+ sources
INVS(3)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 8 →
nephronophthisis 4 Senior-loken syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NPHP4(7)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 8 →
nephrotic syndrome, type 21 Steroid-resistant nephrotic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AVIL(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 49 →
Congenital abnormalities neurodegenerative syndrome due to cerebral folate transport deficiency
1 gene
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1 of 1 corroborated by 2+ sources
FOLR1(3)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Lethal congenital contracture syndrome neurodevelopmental disorder with cerebellar atrophy and with or without seizures
1 gene
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1 of 1 corroborated by 2+ sources
BRAT1(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome Raynaud disease
1 gene
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1 of 1 corroborated by 2+ sources
HNRNPK(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Basal ganglia disease neuroferritinopathy
1 gene
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1 of 1 corroborated by 2+ sources
FTL(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
neuropathy, hereditary sensory and autonomic, type 2A Pseudohypoparathyroidism
1 gene
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1 of 1 corroborated by 2+ sources
WNK1(7)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
neuropathy, hereditary sensory and autonomic, type 2A Sensory neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
WNK1(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 169 →
Lymphatic malformation obsolete PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
1 gene
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1 of 1 corroborated by 2+ sources
PIEZO1(5)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. —
Acro-dermo-ungual-lacrimal-tooth syndrome Omphalocele exstrophy imperforate anus
1 gene
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1 of 1 corroborated by 2+ sources
TP63(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 27 →
Ankyloblepharon-ectodermal defects-cleft lip/palate Omphalocele exstrophy imperforate anus
1 gene
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1 of 1 corroborated by 2+ sources
TP63(5)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 27 →
Limb-mammary syndrome Omphalocele exstrophy imperforate anus
1 gene
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1 of 1 corroborated by 2+ sources
TP63(5)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 27 →
Omphalocele exstrophy imperforate anus Rudiger syndrome
1 gene
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TP63(1)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 27 →
Omphalocele exstrophy imperforate anus Sweat gland neoplasm
1 gene
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1 of 1 corroborated by 2+ sources
TP63(2)
0.071 1.000 8.44e-4 1.50e-3 ✓ sig. Cluster 27 →
Atypical femoral fracture Thoracic aortic aneurysm
2 genes
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CNTN4(1), SMAD6(1)
0.037 0.111 8.39e-4 1.50e-3 ✓ sig. Cluster 66 →
Aortic dissection Atypical femoral fracture
2 genes
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2 of 2 corroborated by 2+ sources
IL18R1(2), SLC9A4(2)
0.037 0.111 8.39e-4 1.50e-3 ✓ sig. Cluster 66 →
Congenital disorder of glycosylation Congenital myasthenic syndrome
3 genes
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3 of 3 corroborated by 2+ sources
ALG2(7), ALG14(6), DPAGT1(8)
0.024 0.103 8.34e-4 1.50e-3 ✓ sig. —
Amblyopia Leukodystrophy
2 genes
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GALC(1), SLC9A6(1)
0.040 0.080 8.03e-4 1.45e-3 ✓ sig. —
Giant cell arteritis Proliferative diabetic retinopathy
2 genes
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1 of 2 corroborated by 2+ sources
CCL2(1), HLA-B(3)
0.038 0.111 7.94e-4 1.43e-3 ✓ sig. —
Epidermolytic palmoplantar keratoderma Pachyonychia congenita
1 gene
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1 of 1 corroborated by 2+ sources
KRT16(6)
0.143 0.333 7.79e-4 1.41e-3 ✓ sig. —
Colorectal cancer susceptibility Paraquat lung disease
1 gene
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1 of 1 corroborated by 2+ sources
SMAD7(4)
0.143 0.333 7.79e-4 1.41e-3 ✓ sig. Cluster 410 →
Pregnancy disorder Spinal cord compression
1 gene
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TNF(1)
0.143 0.333 7.79e-4 1.41e-3 ✓ sig. Cluster 300 →
Arteritis Coronary artery vasospasm
1 gene
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1 of 1 corroborated by 2+ sources
PON1(2)
0.143 0.333 7.79e-4 1.41e-3 ✓ sig. —

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