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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
De sanctis-cacchione syndrome Uv-sensitive syndrome
2 genes
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1 of 2 corroborated by 2+ sources
ERCC6(6), PGBD3(1)
0.333 1.000 8.44e-8 5.94e-7 ✓ sig. —
Commissural facial cleft Tessier facial cleft
2 genes
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2 of 2 corroborated by 2+ sources
SPECC1L(3), PTCH2(2)
0.333 1.000 8.44e-8 5.94e-7 ✓ sig. Cluster 203 →
Congenital chronic diarrhea with protein-losing enteropathy Congenital diarrhea
2 genes
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2 of 2 corroborated by 2+ sources
PLVAP(3), DGAT1(4)
0.333 1.000 8.44e-8 5.94e-7 ✓ sig. Cluster 172 →
Central areolar choroidal dystrophy Choroidal dystrophy
2 genes
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2 of 2 corroborated by 2+ sources
PRPH2(6), GUCY2D(4)
0.333 1.000 8.44e-8 5.94e-7 ✓ sig. Cluster 45 →
Central areolar choroidal dystrophy Choroidal sclerosis
2 genes
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2 of 2 corroborated by 2+ sources
PRPH2(3), GUCY2D(3)
0.333 1.000 8.44e-8 5.94e-7 ✓ sig. Cluster 45 →
Childhood-onset glut1 deficiency syndrome 2 Paroxysmal dyskinesia
2 genes
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2 of 2 corroborated by 2+ sources
SLC2A1(3), PRRT2(2)
0.333 1.000 8.44e-8 5.94e-7 ✓ sig. Cluster 58 →
Christ-siemens-touraine syndrome X-linked hypohidrotic ectodermal dysplasia
2 genes
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2 of 2 corroborated by 2+ sources
EDA(2), EDA2R(2)
0.333 1.000 8.44e-8 5.94e-7 ✓ sig. Cluster 117 →
Dystonia Dystonia, dopa-responsive, with or without hyperphenylalaninemia
3 genes
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3 of 3 corroborated by 2+ sources
GCH1(4), TSPOAP1(3), SPR(3)
0.065 0.750 8.69e-8 6.11e-7 ✓ sig. —
Polymyositis Uveomeningoencephalitic syndrome
3 genes
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2 of 3 corroborated by 2+ sources
HLA-DQB1(2), PTPN22(2), STAT4(1)
0.111 0.429 8.83e-8 6.21e-7 ✓ sig. —
Differentiated thyroid carcinoma Papillary thyroid cancer
4 genes
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4 of 4 corroborated by 2+ sources
BRAF(2), RET(2), CCDC6(2), NKX2-1(2)
0.067 0.286 8.85e-8 6.22e-7 ✓ sig. —
Diabetic cardiomyopathy Hypertrophy
4 genes
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4 of 4 corroborated by 2+ sources
AGT(2), IGF2R(2), LEPR(2), AGTR2(2)
0.067 0.286 8.85e-8 6.22e-7 ✓ sig. —
Aortic disease Turner syndrome
3 genes
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3 of 3 corroborated by 2+ sources
CAT(2), SOD2(2), SOD1(2)
0.120 0.375 8.89e-8 6.24e-7 ✓ sig. Cluster 285 →
Diabetic retinopathy Preeclampsia
10 genes
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8 of 10 corroborated by 2+ sources
ACE(2), AGT(2), PTPRN2(1), SERPINE1(2), NOS3(2), MTHFR(2), PPARG(2), FTO(1), EDN1(2), FLT1(4)
0.040 0.102 8.93e-8 6.27e-7 ✓ sig. —
Colobomatous microphthalmia Septo-optic dysplasia
3 genes
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3 of 3 corroborated by 2+ sources
SHH(2), SOX2(3), OTX2(2)
0.130 0.300 8.94e-8 6.27e-7 ✓ sig. —
Delirium Dyskinesia, drug-induced
3 genes
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3 of 3 corroborated by 2+ sources
DRD2(2), DRD3(2), TH(2)
0.130 0.300 8.94e-8 6.27e-7 ✓ sig. —
Ehlers-danlos syndrome Myopia
7 genes
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5 of 7 corroborated by 2+ sources
FBN1(2), FBN2(1), FLNA(2), MYH11(1), ZNF469(2), AEBP1(6), SLC39A13(5)
0.041 0.159 8.99e-8 6.31e-7 ✓ sig. Cluster 12 →
Diabetic angiopathies Transient ischemic attack
4 genes
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1 of 4 corroborated by 2+ sources
SERPINF1(2), EPO(1), SOD2(1), IL1RN(1)
0.082 0.167 9.06e-8 6.36e-7 ✓ sig. —
Diabetic peripheral angiopathy Transient ischemic attack
4 genes
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SERPINF1(1), EPO(1), SOD2(1), IL1RN(1)
0.082 0.167 9.06e-8 6.36e-7 ✓ sig. —
Azoospermia Male infertility
6 genes
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3 of 6 corroborated by 2+ sources
BCL2(2), TDRD9(1), CFTR(2), HENMT1(1), MOV10L1(1), SYCP3(2)
0.043 0.188 9.53e-8 6.68e-7 ✓ sig. Cluster 31 →
Cystic fibrosis Vasculitis
5 genes
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2 of 5 corroborated by 2+ sources
SERPINA1(3), MPO(1), NOS3(1), SERPINA3(1), PLG(2)
0.057 0.172 9.90e-8 6.94e-7 ✓ sig. —
Frontotemporal dementia Frontotemporal dementia with or without amyotrophic lateral sclerosis
4 genes
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4 of 4 corroborated by 2+ sources
GRN(4), C9orf72(6), CCNF(5), CHMP2B(6)
0.058 0.333 1.01e-7 7.06e-7 ✓ sig. Cluster 102 →
Gastrointestinal stromal tumor Syntelencephaly
4 genes
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4 of 4 corroborated by 2+ sources
CDON(3), GLI2(3), PTCH1(3), DISP1(3)
0.068 0.267 1.01e-7 7.11e-7 ✓ sig. Cluster 96 →
Diffuse cutaneous systemic sclerosis Uveomeningoencephalitic syndrome
3 genes
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1 of 3 corroborated by 2+ sources
HLA-DQA1(1), HLA-DRB1(2), STAT4(1)
0.107 0.429 1.01e-7 7.11e-7 ✓ sig. —
Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay Lissencephaly
5 genes
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2 of 5 corroborated by 2+ sources
MACF1(5), CASK(1), SEPSECS(1), KIAA0586(1), TUBA1A(5)
0.061 0.139 1.03e-7 7.19e-7 ✓ sig. Cluster 110 →
Lymphocytic b-cell leukemia Lymphoma
5 genes
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1 of 5 corroborated by 2+ sources
BCL2(1), MTHFR(1), PTGS2(1), IRF4(2), TNFSF8(1)
0.060 0.147 1.03e-7 7.19e-7 ✓ sig. —

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