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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
Growth hormone deficiency Pituitary stalk interruption syndrome
5 genes
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PROKR2(1), CHD7(1), WDR11(1), NSMF(1), KISS1R(1)
0.082 0.161 6.30e-9 5.27e-8 ✓ sig. Cluster 54 →
Obstructive sleep apnea syndrome Sleep apnea
7 genes
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1 of 7 corroborated by 2+ sources
SLC39A8(1), NRG1(2), FTO(1), METTL15(1), DLEU7(1), MSRB3(1), ETV5(1)
0.056 0.143 6.15e-9 5.15e-8 ✓ sig. —
Brachydactyly Chondrodysplasia
4 genes
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3 of 4 corroborated by 2+ sources
BMPR1B(7), GDF5(7), CHST11(1), PTH1R(5)
0.114 0.235 6.01e-9 5.04e-8 ✓ sig. —
Arterial tortuosity syndrome Congenital contractural arachnodactyly
3 genes
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3 of 3 corroborated by 2+ sources
SLC2A10(6), EFEMP2(2), EMILIN1(6)
0.100 1.000 6.01e-9 5.03e-8 ✓ sig. —
Mitochondrial dna depletion syndrome Mitochondrial hepatopathy
3 genes
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2 of 3 corroborated by 2+ sources
POLG(5), TWNK(5), POLGARF(1)
0.100 1.000 6.01e-9 5.03e-8 ✓ sig. Cluster 97 →
Cerebral hemorrhage Hematoma
3 genes
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S100B(1), PLAT(1), F7(1)
0.100 1.000 6.01e-9 5.03e-8 ✓ sig. —
Arrhythmogenic right ventricular dysplasia Paroxysmal familial ventricular fibrillation
3 genes
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1 of 3 corroborated by 2+ sources
DSP(1), RYR2(1), SCN5A(2)
0.176 0.600 5.98e-9 5.01e-8 ✓ sig. Cluster 4 →
Nausea Neutropenia
4 genes
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3 of 4 corroborated by 2+ sources
TNF(2), IFNA2(1), TNFRSF10A(2), ABCB1(2)
0.066 0.571 5.86e-9 4.91e-8 ✓ sig. —
Corneal disease Eye disease
5 genes
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COL5A1(1), TCF4(1), RXRA(1), COL24A1(1), LAMB1(1)
0.049 0.417 5.83e-9 4.89e-8 ✓ sig. —
Collagen vi-related myopathy Hematuria
3 genes
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3 of 3 corroborated by 2+ sources
COL4A5(2), COL4A3(4), COL4A4(5)
0.200 0.500 5.42e-9 4.55e-8 ✓ sig. Cluster 49 →
Posterior subcapsular cataract Sutural cataract
3 genes
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3 of 3 corroborated by 2+ sources
CRYBB2(2), MIP(3), CRYBA1(3)
0.200 0.500 5.42e-9 4.55e-8 ✓ sig. Cluster 43 →
Estrogen-receptor negative breast cancer Ovarian epithelial cancer
15 genes
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HNF1B(1), TERT(1), BNC2(1), HLA-DRB5(1), JAZF1(1), LSAMP(1), MECOM(1), NSF(1), ZFHX3(1), MLLT10(1), NEK10(1), SEMA4D(1) +3 more
0.038 0.130 5.42e-9 4.55e-8 ✓ sig. Cluster 20 →
Autoimmune polyendocrine syndrome Chorea
3 genes
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0.150 0.750 5.36e-9 4.51e-8 ✓ sig. Cluster 1 →
Chorea Oropharyngeal neoplasms
3 genes
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3 of 3 corroborated by 2+ sources
0.150 0.750 5.36e-9 4.51e-8 ✓ sig. Cluster 1 →
Hemangiosarcoma Penile neoplasms
3 genes
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TP53(1), KRAS(1), HRAS(1)
0.150 0.750 5.36e-9 4.51e-8 ✓ sig. —
Cecal neoplasms Hemangiosarcoma
3 genes
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CTNNB1(1), KRAS(1), CCND1(1)
0.150 0.750 5.36e-9 4.51e-8 ✓ sig. —
Autoimmune polyendocrine syndrome Henoch schoenlein purpura
3 genes
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3 of 3 corroborated by 2+ sources
0.150 0.750 5.36e-9 4.51e-8 ✓ sig. Cluster 1 →
Anterior polar cataract Nuclear cataract
3 genes
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3 of 3 corroborated by 2+ sources
CRYAA(2), CRYBB3(2), CRYBA2(2)
0.150 0.750 5.36e-9 4.51e-8 ✓ sig. Cluster 43 →
Constitutional mismatch repair deficiency Rhabdomyosarcoma
4 genes
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4 of 4 corroborated by 2+ sources
MSH2(7), MSH6(7), PMS2(7), MLH1(6)
0.108 0.308 5.30e-9 4.47e-8 ✓ sig. Cluster 166 →
Dyslipidemias Hepatomegaly
5 genes
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5 of 5 corroborated by 2+ sources
LDLR(2), PPARA(2), NR5A2(2), SLC29A3(4), LEPR(2)
0.069 0.278 5.25e-9 4.42e-8 ✓ sig. —
Connective tissue disease Myopia
11 genes
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3 of 11 corroborated by 2+ sources
COL2A1(2), FBN1(1), COL11A1(1), FBN2(1), FLNA(1), EFEMP1(1), MYH11(1), NDE1(1), ZNF469(1), COL9A1(2), SLC39A13(2)
0.046 0.094 5.24e-9 4.42e-8 ✓ sig. Cluster 12 →
Hyperammonemia Urea cycle disorder
3 genes
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3 of 3 corroborated by 2+ sources
CPS1(3), NAGS(6), OTC(3)
0.214 0.375 5.15e-9 4.34e-8 ✓ sig. —
Congenital myasthenic syndrome Fetal akinesia deformation sequence
4 genes
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4 of 4 corroborated by 2+ sources
RAPSN(6), MUSK(5), SLC18A3(4), DOK7(8)
0.105 0.333 4.97e-9 4.19e-8 ✓ sig. Cluster 34 →
Cowden disease hereditary pheochromocytoma-paraganglioma
3 genes
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3 of 3 corroborated by 2+ sources
SDHB(3), SDHD(3), SDHC(3)
0.214 0.429 4.83e-9 4.08e-8 ✓ sig. Cluster 81 →
Cardiac conduction disease Hereditary bundle branch system defect
3 genes
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TRPM4(1), SCN5A(1), SCN1B(1)
0.214 0.429 4.83e-9 4.08e-8 ✓ sig. Cluster 4 →

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