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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 muscular dystrophy Walker-warburg syndrome
9 genes
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9 of 9 corroborated by 2+ sources
GMPPB(4), LARGE1(3), CRPPA(4), POMT1(4), POMT2(4), POMGNT1(4), FKRP(5), FKTN(3), POMK(3)
0.300 0.563 4.23e-23 9.26e-22 ✓ sig. Cluster 14 →
Leber hereditary optic neuropathy Mitochondrial complex deficiency
14 genes
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10 of 14 corroborated by 2+ sources
ND1(2), ND2(2), NDUFS2(5), ATP6(2), COX3(2), ATP8(1), COX1(1), ND5(2), COX2(1), ND3(1), ND4(2), ND4L(2) +2 more
0.104 0.500 4.52e-23 9.87e-22 ✓ sig. —
Heterotaxy syndrome Tetralogy of fallot
13 genes
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11 of 13 corroborated by 2+ sources
PKD1L1(4), CFC1(5), ZIC3(5), LEFTY2(2), CERS1(1), CRIPTO(2), GDF1(3), CFAP45(5), MMP21(4), CFAP53(4), ACVR2B(5), CFC1B(1) +1 more
0.105 0.591 4.67e-23 1.02e-21 ✓ sig. —
Ischemic heart disease Ischemic stroke
18 genes
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1 of 18 corroborated by 2+ sources
ACE(1), APOE(1), KALRN(1), LIPG(1), F2(1), MTHFR(1), PON1(1), PON2(1), TNF(1), MMP9(2), LTA(1), ALOX5AP(1) +6 more
0.088 0.353 4.83e-23 1.05e-21 ✓ sig. —
Leopard syndrome Noonan syndrome
9 genes
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7 of 9 corroborated by 2+ sources
BRAF(8), RPL6(1), NRAS(7), EPHA2(2), RAF1(7), PTPN11(8), MAP2K1(6), MAP2K2(4), MKRN2(1)
0.225 0.818 5.10e-23 1.11e-21 ✓ sig. Cluster 42 →
Pancreatic neoplasms Urinary bladder neoplasms
22 genes
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TERT(1), TP53(1), EGFR(1), INPP4B(1), SOD2(1), STAT3(1), TNF(1), PTGS2(1), HIF1A(1), KLF5(1), IFNA2(1), KRAS(1) +10 more
0.092 0.188 5.15e-23 1.12e-21 ✓ sig. Cluster 5 →
Nonsyndromic hearing loss Nonsyndromic intellectual disability
22 genes
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22 of 22 corroborated by 2+ sources
OTOF(4), OTOGL(2), PNPT1(3), TMC1(5), TSPEAR(3), MET(3), DCDC2(3), TBC1D24(3), CABP2(3), LOXHD1(3), PTPRQ(4), KARS1(3) +10 more
0.092 0.186 5.34e-23 1.16e-21 ✓ sig. —
Hemoglobinuria paroxysmal Paroxysmal nocturnal hemoglobinuria
6 genes
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2 of 6 corroborated by 2+ sources
HLA-DQA1(1), C3(1), HLA-DQB1(1), C5(1), PIGA(6), PIGT(4)
0.857 1.000 5.41e-23 1.17e-21 ✓ sig. Cluster 1 →
Cerebellar ataxia, intellectual disability, and dysequilibrium Dysequilibrium syndrome
6 genes
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6 of 6 corroborated by 2+ sources
WDR81(4), VLDLR(5), ATP8A2(4), TUBB2B(3), CA8(3), RIPPLY1(2)
0.857 1.000 5.41e-23 1.17e-21 ✓ sig. Cluster 317 →
Cold paroxysmal hemoglobinuria Hemoglobinuria paroxysmal
6 genes
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2 of 6 corroborated by 2+ sources
HLA-DQA1(1), C3(1), HLA-DQB1(1), C5(1), PIGA(2), PIGT(2)
0.857 1.000 5.41e-23 1.17e-21 ✓ sig. Cluster 1 →
Cold paroxysmal hemoglobinuria Paroxysmal nocturnal hemoglobinuria
6 genes
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2 of 6 corroborated by 2+ sources
HLA-DQA1(1), C3(1), HLA-DQB1(1), C5(1), PIGA(5), PIGT(3)
0.857 1.000 5.41e-23 1.17e-21 ✓ sig. Cluster 1 →
Congenital hypothyroidism without goiter Congenital thyroid atrophy
6 genes
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TSHR(1), NKX2-5(1), THRA(1), PAX8(1), TSHB(1), IGSF1(1)
0.857 1.000 5.41e-23 1.17e-21 ✓ sig. Cluster 88 →
Behcet disease Rhinitis
17 genes
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8 of 17 corroborated by 2+ sources
CAT(2), SERPINE1(2), IL10(4), IL1B(2), IL2(1), IL4(2), MBL2(1), TLR4(2), TNF(1), HLA-DQB1(1), IL23R(2), NOD2(1) +5 more
0.110 0.262 5.51e-23 1.19e-21 ✓ sig. Cluster 16 →
Cerebrovascular disorder Heart disease
20 genes
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13 of 20 corroborated by 2+ sources
FGA(2), AGT(2), APOE(2), HDAC9(2), LDLR(1), SMARCA4(1), F2(2), ATXN2(1), ALB(2), TGFB1(2), ABO(2), CELSR2(1) +8 more
0.095 0.238 5.80e-23 1.25e-21 ✓ sig. —
Focal glomerulosclerosis Steroid-resistant nephrotic syndrome
10 genes
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WT1(1), COL4A5(1), COL4A4(1), PAX2(1), APOL1(1), CRB2(1), SMARCAL1(1), AXDND1(1), NPHS2(1), NPHS1(1)
0.164 0.769 5.95e-23 1.28e-21 ✓ sig. —
Iga nephropathy Systemic lupus erythematosus
48 genes
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19 of 48 corroborated by 2+ sources
RREB1(1), NOTCH2(2), AFF3(1), ANKRD55(1), CTNNA3(1), DOCK10(1), ETS1(4), HLA-DQA1(3), HLA-DQB3(1), HLA-DRA(1), HLA-DRB1(4), IKZF1(3) +36 more
0.059 0.236 6.13e-23 1.32e-21 ✓ sig. Cluster 28 →
Ciliopathy Meckel-gruber syndrome
13 genes
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13 of 13 corroborated by 2+ sources
CC2D2A(6), RPGRIP1L(6), TMEM67(7), TMEM138(3), TMEM216(7), TMEM231(6), MKS1(8), B9D1(6), B9D2(7), TCTN3(4), TMEM107(5), TMEM218(2) +1 more
0.141 0.394 7.10e-23 1.53e-21 ✓ sig. Cluster 8 →
Cryptogenic west syndrome West syndrome
8 genes
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CRH(1), POMC(1), STXBP1(1), TSC2(1), TSC1(1), UPB1(1), HSD17B4(1), MC2R(1)
0.258 1.000 7.48e-23 1.61e-21 ✓ sig. Cluster 328 →
Hepatic insufficiency Hepatomegaly
9 genes
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NOS3(1), NFE2L2(1), RELA(1), ALB(1), TGFB1(1), KEAP1(1), NOS2(1), MAPK14(1), CYGB(1)
0.153 1.000 7.96e-23 1.71e-21 ✓ sig. Cluster 153 →
Joubert syndrome Nephronophthisis
13 genes
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11 of 13 corroborated by 2+ sources
NPHP4(7), ZNF423(6), CPLANE1(6), CC2D2A(5), RPGRIP1L(5), NPHP3(6), TMEM67(6), NPHP1(7), CEP290(6), IFT140(1), TTC21B(5), AHI1(8) +1 more
0.151 0.325 8.07e-23 1.73e-21 ✓ sig. Cluster 8 →
Congenital hypothyroidism Thyroid agenesis
7 genes
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4 of 7 corroborated by 2+ sources
TSHR(3), NKX2-5(2), THRA(1), PAX8(2), SLC26A4(1), TSHB(1), IGSF1(2)
0.467 1.000 8.44e-23 1.81e-21 ✓ sig. Cluster 88 →
Bardet-biedl syndrome Senior-loken syndrome
10 genes
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8 of 10 corroborated by 2+ sources
NPHP4(6), NPHP3(3), AKT3(1), NPHP1(6), CEP290(6), WDR19(5), SCLT1(4), SDCCAG8(7), IQCB1(6), RLIG1(1)
0.159 0.769 8.65e-23 1.85e-21 ✓ sig. Cluster 8 →
Gastroesophageal reflux disease Substance abuse
50 genes
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2 of 50 corroborated by 2+ sources
CACNA1D(1), ADGRL2(1), AFF3(1), AKAP6(1), CABP1(1), CACNA1A(1), CAMTA1(1), CAPZA3(1), CCKBR(2), CNTNAP5(1), DCC(1), ERBB3(1) +38 more
0.067 0.179 9.36e-23 2.00e-21 ✓ sig. Cluster 2 →
Ehlers-danlos syndrome Loeys-dietz syndrome
10 genes
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8 of 10 corroborated by 2+ sources
FBN1(2), COL5A1(8), FBN2(1), TGFB2(6), SMAD3(4), COL3A1(7), MYH11(1), TGFBR1(6), TGFBR2(7), COL5A2(8)
0.196 0.625 9.54e-23 2.04e-21 ✓ sig. Cluster 12 →
Polycystic kidney disease Polycystic liver disease
11 genes
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8 of 11 corroborated by 2+ sources
ALG8(6), ALG9(5), LRP6(1), PKD2(8), PKHD1(8), LRP5(5), GANAB(7), SEC63(6), DKK3(1), PRKCSH(6), ONECUT2(1)
0.180 0.478 1.03e-22 2.21e-21 ✓ sig. Cluster 23 →

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