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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
Congenital hyperinsulinism Hyperinsulinemic hypoglycemia
5 genes
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5 of 5 corroborated by 2+ sources
HADH(5), ABCC8(4), KCNJ11(5), GCK(3), GLUD1(3)
0.385 0.833 3.84e-16 5.92e-15 ✓ sig. Cluster 36 →
Congenital aneurysm of ascending aorta Loeys-dietz syndrome
6 genes
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2 of 6 corroborated by 2+ sources
FBN1(1), SMAD3(4), COL3A1(1), MYH11(1), TGFBR2(7), MYLK(1)
0.261 0.500 3.99e-16 6.14e-15 ✓ sig. Cluster 12 →
Coloboma Congenital iris coloboma
5 genes
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3 of 5 corroborated by 2+ sources
PAX6(4), ACTG1(2), FZD5(1), ABCB6(1), SALL2(2)
0.313 1.000 4.17e-16 6.40e-15 ✓ sig. Cluster 272 →
Hereditary breast and ovarian cancer syndrome Hereditary breast-ovarian cancer syndrome
5 genes
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5 of 5 corroborated by 2+ sources
PALB2(2), BRCA2(5), BRCA1(5), RAD51C(5), RAD51D(5)
0.313 1.000 4.17e-16 6.40e-15 ✓ sig. Cluster 132 →
Arima syndrome Meckel-gruber syndrome
6 genes
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5 of 6 corroborated by 2+ sources
CC2D2A(5), CEP290(5), TMEM138(1), TMEM216(6), TMEM231(5), TMEM237(2)
0.171 0.857 4.19e-16 6.42e-15 ✓ sig. Cluster 8 →
Congenital cardiovascular anomaly Peripheral vascular disease
6 genes
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CARD11(1), GNA12(1), ANK2(1), FANCC(1), SERTM1(1), DOK7(1)
0.171 0.857 4.19e-16 6.42e-15 ✓ sig. —
complex hereditary spastic paraplegia Hereditary spastic paraplegia
7 genes
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7 of 7 corroborated by 2+ sources
NT5C2(2), B4GALNT1(2), GBA2(2), DSTYK(2), VPS37A(2), ENTPD1(2), MAG(2)
0.069 1.000 4.23e-16 6.49e-15 ✓ sig. Cluster 244 →
Combined d-2- and l-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria
4 genes
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3 of 4 corroborated by 2+ sources
D2HGDH(5), IDH2(5), L2HGDH(1), SLC25A1(5)
0.800 1.000 4.27e-16 6.52e-15 ✓ sig. —
Congenital malformation syndromes predominantly affecting facial appearance Warburg micro syndrome
4 genes
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4 of 4 corroborated by 2+ sources
RAB18(6), RAB3GAP1(5), RAB3GAP2(5), TBC1D20(5)
0.800 1.000 4.27e-16 6.52e-15 ✓ sig. Cluster 48 →
Congenital mirror movements Mirror movements
4 genes
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4 of 4 corroborated by 2+ sources
DCC(7), RAD51(6), NTN1(5), DNAL4(6)
0.800 1.000 4.27e-16 6.52e-15 ✓ sig. —
Ap-4 deficiency syndrome Ap4-related intellectual disability and spastic paraplegia
4 genes
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4 of 4 corroborated by 2+ sources
AP4M1(2), AP4B1(2), AP4E1(2), AP4S1(2)
0.800 1.000 4.27e-16 6.52e-15 ✓ sig. —
De toni-debre-fanconi syndrome Fanconi renotubular syndrome
4 genes
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4 of 4 corroborated by 2+ sources
GATM(5), EHHADH(5), NDUFAF6(4), SLC34A1(5)
0.800 1.000 4.27e-16 6.52e-15 ✓ sig. Cluster 99 →
Nephrogenic diabetes insipidus Neurogenic diabetes insipidus
4 genes
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4 of 4 corroborated by 2+ sources
AVP(5), PRKCA(2), AQP2(5), AVPR2(6)
0.800 1.000 4.27e-16 6.52e-15 ✓ sig. —
mismatch repair cancer syndrome 1 Muir-torre syndrome
4 genes
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4 of 4 corroborated by 2+ sources
MSH2(5), MSH6(2), PMS2(2), MLH1(5)
0.800 1.000 4.27e-16 6.52e-15 ✓ sig. Cluster 166 →
Paraganglioma Pheochromocytoma/paraganglioma syndrome
5 genes
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5 of 5 corroborated by 2+ sources
SDHB(5), SDHD(5), SDHA(5), SDHC(4), SDHAF2(4)
0.417 0.625 4.35e-16 6.63e-15 ✓ sig. Cluster 81 →
Nasal disorder Upper respiratory tract disorder
7 genes
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NEK6(1), SMAD3(1), IL18R1(1), IL7R(1), IL1RL1(1), RANBP6(1), FBXO33(1)
0.189 0.350 4.62e-16 7.04e-15 ✓ sig. Cluster 137 →
Lamellar cataract Nuclear cataract
6 genes
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6 of 6 corroborated by 2+ sources
CRYAA(2), CRYGC(2), CRYAB(2), CRYGD(2), MIP(2), CRYBA1(2)
0.250 0.545 4.62e-16 7.04e-15 ✓ sig. Cluster 43 →
Hyperlipidemia Hypertriglyceridemia
11 genes
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9 of 11 corroborated by 2+ sources
APOB(3), LPL(6), PPARA(2), ZPR1(2), GCKR(3), CETP(2), PLTP(3), TDRD15(1), ANGPTL4(3), APOA5(4), HAVCR1(1)
0.069 0.393 4.80e-16 7.31e-15 ✓ sig. Cluster 254 →
Androgenetic alopecia Obstructive pulmonary disease
53 genes
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KANSL1(1), CASZ1(1), RERE(1), RREB1(1), HDAC4(1), FGFR3(1), AFF3(1), CCDC91(1), FADS2(1), GLIS3(1), HDAC9(1), L3MBTL3(1) +41 more
0.058 0.130 4.92e-16 7.47e-15 ✓ sig. —
Peripheral arterial disease Vascular disease
14 genes
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1 of 14 corroborated by 2+ sources
HDAC9(1), NFAT5(1), TCF7L2(1), MTHFR(2), ATXN2(1), CHRNA3(1), TWIST1(1), ABO(1), CELSR2(1), LPA(1), F5(1), FRMD4A(1) +2 more
0.065 0.269 5.06e-16 7.69e-15 ✓ sig. Cluster 307 →
Jeune syndrome Majewski syndrome
7 genes
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5 of 7 corroborated by 2+ sources
NEK1(1), IFT80(5), DYNC2H1(5), DYNC2LI1(3), IFT172(3), TTC21B(6), WDR35(1)
0.146 0.583 5.20e-16 7.90e-15 ✓ sig. Cluster 22 →
Necrosis Ventricular dysfunction
10 genes
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AGT(1), DMD(1), FAS(1), NFE2L2(1), SOD2(1), TNF(1), IL6(1), CAST(1), TNNT2(1), METTL14(1)
0.109 0.217 5.26e-16 7.98e-15 ✓ sig. —
Cor pulmonale Thrombophilia
7 genes
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4 of 7 corroborated by 2+ sources
FGA(4), F2(6), ABO(1), SLC19A2(1), F5(6), FGG(3), F11(1)
0.171 0.467 5.27e-16 7.98e-15 ✓ sig. —
Brain injuries Rhinitis
12 genes
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12 of 12 corroborated by 2+ sources
BDNF(2), IL10(2), IL1B(2), IL2(2), TLR4(2), TNF(2), PTGS2(2), ALB(2), IL1RN(2), CD14(2), TLR2(2), OCLN(2)
0.090 0.185 5.29e-16 8.01e-15 ✓ sig. —
Distal arthrogryposis Sheldon-hall syndrome
5 genes
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5 of 5 corroborated by 2+ sources
MYH3(5), TPM2(6), NALCN(2), TNNI2(5), TNNT3(5)
0.294 1.000 6.06e-16 9.17e-15 ✓ sig. Cluster 202 →

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