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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.
0 selected Clear
Disease A ⇵Disease B ⇵Shared genes ⇵Similarity score ⇵Overlap coefficient ⇵P-value ⇵FDR q-value ▼ Shared cluster
Congenital ear anomaly Congenital sensorineural hearing loss
5 genes
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MYO15A(1), USH2A(1), TBCEL-TECTA(1), MITF(1), TECTA(1)
0.143 0.625 1.31e-12 1.57e-11 ✓ sig. —
Junctional epidermolysis bullosa Weber-cockayne syndrome
4 genes
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1 of 4 corroborated by 2+ sources
KRT5(1), ITGB4(6), GALK1(1), KRT14(1)
0.211 1.000 1.31e-12 1.57e-11 ✓ sig. —
Angle closure glaucoma Primary angle closure glaucoma
5 genes
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5 of 5 corroborated by 2+ sources
COL11A1(2), FERMT2(2), GLIS3(2), EPDR1(2), PLEKHA7(2)
0.192 0.357 1.21e-12 1.45e-11 ✓ sig. Cluster 21 →
Crest syndrome Myositis
7 genes
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2 of 7 corroborated by 2+ sources
DGKQ(1), HLA-DRB1(2), ATG5(1), IRF5(2), STAT4(1), TNPO3(1), DNASE1L3(1)
0.092 0.333 1.19e-12 1.43e-11 ✓ sig. Cluster 25 →
Saldino-noonan syndrome Short-rib thoracic dysplasia
5 genes
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5 of 5 corroborated by 2+ sources
NEK1(4), DYNC2H1(2), DYNC2I1(4), DYNC2I2(5), DYNLT2B(4)
0.172 0.500 1.17e-12 1.41e-11 ✓ sig. Cluster 22 →
Craniodiaphyseal dysplasia Short-rib thoracic dysplasia
5 genes
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5 of 5 corroborated by 2+ sources
IFT43(5), IFT140(4), IFT52(6), WDR19(6), WDR35(6)
0.172 0.500 1.17e-12 1.41e-11 ✓ sig. Cluster 22 →
Auditory neuropathy Nonsyndromic hearing loss
9 genes
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7 of 9 corroborated by 2+ sources
OTOF(1), DIAPH3(8), DIAPH1(3), MYO7A(4), TWNK(1), WFS1(3), SLC17A8(3), TBC1D24(3), ATP11A(4)
0.064 0.290 1.17e-12 1.41e-11 ✓ sig. Cluster 26 →
Hashimoto disease Immune system disease
7 genes
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1 of 7 corroborated by 2+ sources
FAM76B(1), HLA-DQA1(1), HLA-DRB1(1), ATXN2(1), CTLA4(3), PTPN22(1), STAT4(1)
0.104 0.259 1.12e-12 1.34e-11 ✓ sig. —
Hereditary hearing loss Usher syndrome
8 genes
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8 of 8 corroborated by 2+ sources
PCDH15(7), CDH23(8), MYO7A(7), COCH(2), ESPN(5), OTOA(2), USH1C(7), WHRN(6)
0.092 0.182 1.11e-12 1.34e-11 ✓ sig. Cluster 26 →
Anxiety disorder Bipolar depression
14 genes
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11 of 14 corroborated by 2+ sources
SERPINA1(2), DISC1(2), HTR1A(1), NTRK2(2), PDE4B(2), THSD7A(2), GAD1(1), SLC6A4(3), CACNA1C(2), NCAM1(2), ADCY2(2), ITIH1(2) +2 more
0.059 0.133 1.11e-12 1.33e-11 ✓ sig. Cluster 2 →
Maturity-onset diabetes of the young Neonatal diabetes mellitus
5 genes
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5 of 5 corroborated by 2+ sources
INS(2), ABCC8(2), KCNJ11(2), GCK(2), PDX1(2)
0.192 0.385 1.10e-12 1.32e-11 ✓ sig. Cluster 36 →
Hereditary bundle branch system defect Ventricular fibrillation
5 genes
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1 of 5 corroborated by 2+ sources
TRPM4(1), DSP(1), NKX2-5(1), SCN5A(3), SCN1B(1)
0.128 0.714 1.09e-12 1.32e-11 ✓ sig. Cluster 4 →
Osteochondrodysplasias Spondyloepiphyseal dysplasia
6 genes
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6 of 6 corroborated by 2+ sources
HSPG2(2), COL2A1(8), TRPV4(3), GLB1(2), CHST3(6), TRAPPC2(6)
0.130 0.333 1.09e-12 1.32e-11 ✓ sig. —
Hereditary corneal dystrophy Polymorphous corneal dystrophy
4 genes
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COL8A2(1), OVOL2(1), VSX1(1), ZEB1(1)
0.286 0.800 1.06e-12 1.27e-11 ✓ sig. Cluster 75 →
Hereditary corneal dystrophy Posterior polymorphous corneal dystrophy
4 genes
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4 of 4 corroborated by 2+ sources
COL8A2(4), OVOL2(4), VSX1(4), ZEB1(4)
0.286 0.800 1.06e-12 1.27e-11 ✓ sig. Cluster 75 →
Capillary malformation-arteriovenous malformation Klippel-trenaunay syndrome
4 genes
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2 of 4 corroborated by 2+ sources
GNAQ(3), RASA1(6), PIK3CA(1), CCNH(1)
0.333 0.571 1.05e-12 1.26e-11 ✓ sig. Cluster 40 →
Global developmental delay syndromic intellectual disability
13 genes
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13 of 13 corroborated by 2+ sources
BPTF(2), AUTS2(2), CDK13(2), CRADD(2), KMT2C(2), RAC1(2), NSD2(2), KAT6A(2), ASXL3(2), CHD4(2), MED13L(2), NAA15(2) +1 more
0.033 0.361 1.01e-12 1.22e-11 ✓ sig. —
Male infertility round headed spermatozoa Spermatogenic failure
6 genes
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5 of 6 corroborated by 2+ sources
SPATA16(4), SEPTIN4(2), DPY19L2(5), ZPBP(3), GGN(3), C2CD6(1)
0.052 0.857 1.00e-12 1.21e-11 ✓ sig. —
Macrothrombocytopenia Platelet-type bleeding disorder
5 genes
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5 of 5 corroborated by 2+ sources
ITGB3(6), ITGA2B(6), TPM4(5), ACTN1(6), GFI1B(6)
0.185 0.455 9.89e-13 1.20e-11 ✓ sig. Cluster 33 →
Allergic contact dermatitis Hypersensitivity
10 genes
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10 of 10 corroborated by 2+ sources
SPP1(2), IL10(2), IL4(2), TNF(2), IFNG(2), CYP1A1(2), CCR2(2), IL18(2), CCR1(2), CCL19(2)
0.075 0.143 9.57e-13 1.16e-11 ✓ sig. Cluster 16 →
Anophthalmia/microphthalmia-esophageal atresia syndrome Anterior segment dysgenesis
6 genes
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4 of 6 corroborated by 2+ sources
PITX3(4), BMP4(2), ELP4(1), PAX6(3), PITX2(4), PTCH1(1)
0.140 0.261 9.49e-13 1.15e-11 ✓ sig. —
Hyperlipoproteinemia Lipoprotein lipase deficiency
7 genes
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7 of 7 corroborated by 2+ sources
APOB(3), APOE(6), LDLR(3), LPL(7), CETP(2), PCSK9(2), APOA5(6)
0.109 0.233 8.94e-13 1.08e-11 ✓ sig. —
Thyroid cancer Toxic nodular goiter
6 genes
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1 of 6 corroborated by 2+ sources
TERT(1), NRG1(1), TG(2), SLK(1), STN1(1), MBIP(1)
0.130 0.353 8.85e-13 1.07e-11 ✓ sig. —
Congenital heart defects Lung disease
11 genes
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7 of 11 corroborated by 2+ sources
IRX1(2), VEGFA(2), GSTP1(1), GSTT1(1), GSTM1(1), HIF1A(2), IRX5(2), MEFV(1), STRA6(2), EDNRA(2), AFF4(2)
0.068 0.157 8.69e-13 1.06e-11 ✓ sig. —
Fanconi anemia Hereditary breast and ovarian cancer syndrome
6 genes
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6 of 6 corroborated by 2+ sources
RAD51(5), PALB2(7), BRCA2(8), BRIP1(7), BRCA1(7), RAD51C(7)
0.122 0.400 8.68e-13 1.05e-11 ✓ sig. Cluster 132 →

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