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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
Capillary-lymphatic-venous malformation Klippel-trenaunay syndrome
2 genes
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2 of 2 corroborated by 2+ sources
PIK3CA(2), AGGF1(2)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. —
Congenital exomphalos Congenital omphalocele
2 genes
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CHRNA7(1), PCSK5(1)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 94 →
Congenital malformation syndromes predominantly involving limbs Klippel-trenaunay syndrome
2 genes
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DLX5(1), SMOC1(1)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. —
17 alpha-hydroxyprogesterone aldolase deficiency 46,xy disorder of sex developmen
2 genes
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2 of 2 corroborated by 2+ sources
AKR1C2(2), AKR1C4(2)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 344 →
Acral peeling skin syndrome Peeling skin syndrome
2 genes
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2 of 2 corroborated by 2+ sources
CSTA(4), TGM5(4)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. —
Acromesomelic dysplasia Congenital scoliosis
2 genes
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1 of 2 corroborated by 2+ sources
FBN1(2), LTBP3(1)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 52 →
Apoceruloplasmin deficiency Iron overload
2 genes
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2 of 2 corroborated by 2+ sources
CP(2), SLC40A1(2)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 231 →
Apolipoprotein a-i deficiency Hypoalphalipoproteinemia
2 genes
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2 of 2 corroborated by 2+ sources
APOA1(5), ABCA1(7)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. —
Hallermanns syndrome Hallervorden spatz syndrome
2 genes
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2 of 2 corroborated by 2+ sources
GJA1(2), CHD6(2)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 92 →
Hyper-igm immunodeficiency syndrome Hyper-immunoglobulin syndrome
2 genes
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2 of 2 corroborated by 2+ sources
AICDA(6), CD40(6)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 131 →
Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema Hyper-igm immunodeficiency syndrome
2 genes
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1 of 2 corroborated by 2+ sources
G6PD(1), IKBKG(2)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. —
Autoinflammatory disease, systemic, x-linked Hyper-igm immunodeficiency syndrome
2 genes
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1 of 2 corroborated by 2+ sources
G6PD(1), IKBKG(3)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. —
Bloch sulzberger syndrome Hyper-igm immunodeficiency syndrome
2 genes
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G6PD(1), IKBKG(1)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. —
Blue rubber bleb nevus syndrome Congenital venous anomaly
2 genes
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1 of 2 corroborated by 2+ sources
GLMN(1), TEK(2)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 261 →
Branchiooculofacial syndrome Branchiootorenal syndrome
2 genes
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2 of 2 corroborated by 2+ sources
TFAP2A(5), EYA1(5)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 145 →
Branchiootic syndrome Branchiootorenal syndrome
2 genes
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2 of 2 corroborated by 2+ sources
EYA1(6), SIX1(8)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 145 →
Branchiootorenal syndrome Otofaciocervical syndrome
2 genes
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2 of 2 corroborated by 2+ sources
EYA1(6), PAX1(7)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 145 →
Candle syndrome Proteasome associated autoinflammatory syndrome
2 genes
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2 of 2 corroborated by 2+ sources
PSMB8(6), PSMB4(4)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. —
Cataract-intellectual disability-hypogonadism syndrome Cryptophthalmos syndrome
2 genes
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2 of 2 corroborated by 2+ sources
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 48 →
Cataract-intellectual disability-hypogonadism syndrome Cyclocephaly
2 genes
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2 of 2 corroborated by 2+ sources
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 48 →
Pancreatic trypsinogen deficiency Vitamin d dependent rickets
2 genes
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PRSS1(1), TRB(1)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. Cluster 396 →
Astigmatism Dyschromatopsia
2 genes
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PHF3(1), EYS(1)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. —
Benign epithelial tumor of salivary glands Russell-silver syndrome
2 genes
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2 of 2 corroborated by 2+ sources
HMGA2(2), PLAG1(2)
0.250 1.000 1.77e-7 1.18e-6 ✓ sig. —
Medulloblastoma Ovarian neoplasms
7 genes
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2 of 7 corroborated by 2+ sources
STAT3(1), CTNNB1(3), ERBB2(1), MYC(1), BRCA2(3), CCNE1(1), SKP2(1)
0.040 0.143 1.75e-7 1.18e-6 ✓ sig. —
Granulomatosis with polyangiitis Myopathic ophthalmopathy
3 genes
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2 of 3 corroborated by 2+ sources
IL10(1), CTLA4(2), PTPN22(2)
0.120 0.231 1.70e-7 1.15e-6 ✓ sig. Cluster 147 →

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