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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
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 →
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 →
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 →
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 →
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. —
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. —
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 →
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. —
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. —
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 →
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. —
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. —
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 →
Nephrosclerosis Urethral obstruction
4 genes
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4 of 4 corroborated by 2+ sources
TGFB1(2), ACTA2(2), COL3A1(2), HIPK2(2)
0.108 0.286 6.32e-9 5.28e-8 ✓ sig. —
Hyperparathyroidism Parathyroid disease
3 genes
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TMEM14B(1), C1orf185(1), MAFB(1)
0.143 0.750 6.37e-9 5.32e-8 ✓ sig. —
Intellectual disability West syndrome
6 genes
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GRIN2B(1), SCN8A(1), ST3GAL3(1), SCN1A(1), STXBP1(1), TSC2(1)
0.059 0.200 6.39e-9 5.34e-8 ✓ sig. —
B-lymphoblastic leukemia/lymphoma Lymphoblastic leukemia
5 genes
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5 of 5 corroborated by 2+ sources
IKZF1(2), PIP4K2A(2), PAX5(4), FLT3(2), BCR(2)
0.069 0.263 6.49e-9 5.42e-8 ✓ sig. Cluster 3 →
Developmental delay Leber hereditary optic neuropathy
5 genes
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5 of 5 corroborated by 2+ sources
ND2(2), COX3(2), ND5(2), ND4(2), CYTB(2)
0.081 0.179 6.57e-9 5.48e-8 ✓ sig. Cluster 32 →
Bone resorption Osteolysis
3 genes
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PTHLH(1), TNFRSF11B(1), TNFSF11(1)
0.200 0.429 6.89e-9 5.75e-8 ✓ sig. Cluster 262 →
Absence epilepsy Childhood absence epilepsy
3 genes
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3 of 3 corroborated by 2+ sources
CACNA1H(5), GABRB3(5), JRK(2)
0.200 0.429 6.89e-9 5.75e-8 ✓ sig. Cluster 47 →
Status epilepticus Temporal lobe epilepsy
6 genes
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6 of 6 corroborated by 2+ sources
VEGFA(2), CNR1(2), GRM1(2), GRM5(2), SLC12A5(2), AQP4(2)
0.061 0.182 7.13e-9 5.95e-8 ✓ sig. —
Congenital cystic eyeball Nanophthalmos
3 genes
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3 of 3 corroborated by 2+ sources
PRSS56(2), RAX(2), ALDH1A3(2)
0.188 0.500 7.22e-9 6.01e-8 ✓ sig. Cluster 56 →
Cardiofaciocutaneous syndrome Congenital malformation syndromes associated with short stature
3 genes
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2 of 3 corroborated by 2+ sources
BRAF(7), PTPN11(3), RIT1(1)
0.188 0.500 7.22e-9 6.01e-8 ✓ sig. Cluster 42 →
Intestinal obstruction Visceral neuropathy
3 genes
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3 of 3 corroborated by 2+ sources
ERBB3(4), ACTG2(2), TYMP(2)
0.188 0.500 7.22e-9 6.01e-8 ✓ sig. —
Diabetic nephropathy type 1 Latent autoimmune diabetes in adults
3 genes
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HLA-DQA1(1), HLA-DQB1(1), PTPN22(1)
0.188 0.500 7.22e-9 6.01e-8 ✓ sig. Cluster 1 →

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