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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
Brain disease Cystic leukoencephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
RNASET2(5)
0.023 0.500 5.45e-3 6.63e-3 ✓ sig. —
Brain disease Whim syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CXCR2(5)
0.023 0.500 5.45e-3 6.63e-3 ✓ sig. —
Hypospadias X-linked myotubular myopathy
1 gene
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1 of 1 corroborated by 2+ sources
MAMLD1(6)
0.023 0.500 5.45e-3 6.63e-3 ✓ sig. —
Developmental delay with short stature and dysmorphic facial features Ventricular septal defect
1 gene
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1 of 1 corroborated by 2+ sources
DPH2(3)
0.023 0.500 5.45e-3 6.63e-3 ✓ sig. —
Anemia epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ITGA3(2)
0.012 1.000 5.46e-3 6.63e-3 ✓ sig. —
Anemia Malabsorption syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC46A1(2)
0.012 1.000 5.46e-3 6.63e-3 ✓ sig. —
Anemia Serrated polyposis
1 gene
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1 of 1 corroborated by 2+ sources
RNF43(2)
0.012 1.000 5.46e-3 6.63e-3 ✓ sig. —
Anemia sessile serrated polyposis cancer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RNF43(2)
0.012 1.000 5.46e-3 6.63e-3 ✓ sig. —
Anemia spinocerebellar ataxia, autosomal recessive 31
1 gene
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1 of 1 corroborated by 2+ sources
ATG7(3)
0.012 1.000 5.46e-3 6.63e-3 ✓ sig. —
Cerebrovascular disorder platelet-type bleeding disorder 8
1 gene
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1 of 1 corroborated by 2+ sources
P2RY12(2)
0.012 1.000 5.46e-3 6.63e-3 ✓ sig. —
Cardiomegaly PLD1-related congenital heart disease
1 gene
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1 of 1 corroborated by 2+ sources
PLD1(2)
0.012 1.000 5.46e-3 6.63e-3 ✓ sig. —
Cardiomegaly polyglucosan body myopathy 1 with or without immunodeficiency
1 gene
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1 of 1 corroborated by 2+ sources
RBCK1(2)
0.012 1.000 5.46e-3 6.63e-3 ✓ sig. —
Cerebrovascular disorder PRPF8-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
PRPF8(2)
0.012 1.000 5.46e-3 6.63e-3 ✓ sig. —
Cardiomegaly thrombocytopenia 6
1 gene
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1 of 1 corroborated by 2+ sources
SRC(2)
0.012 1.000 5.46e-3 6.63e-3 ✓ sig. —
Anemia Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
1 gene
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ITGA3(1)
0.012 1.000 5.46e-3 6.63e-3 ✓ sig. —
Anemia Congenital phimosis
1 gene
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ITGA3(1)
0.012 1.000 5.46e-3 6.63e-3 ✓ sig. —
Cardiomegaly immunodeficiency 97 with autoinflammation
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CG(2)
0.012 1.000 5.46e-3 6.63e-3 ✓ sig. —
Cardiomegaly Isolated anhidrosis
1 gene
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1 of 1 corroborated by 2+ sources
ITPR2(2)
0.012 1.000 5.46e-3 6.63e-3 ✓ sig. —
Cardiomegaly HAND2 related congenital heart defect
1 gene
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1 of 1 corroborated by 2+ sources
HAND2(2)
0.012 1.000 5.46e-3 6.63e-3 ✓ sig. —
Anemia Hypochromic anemia
1 gene
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SLC11A2(1)
0.012 1.000 5.46e-3 6.63e-3 ✓ sig. —
Anemia Congenital folate absorption defect
1 gene
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1 of 1 corroborated by 2+ sources
SLC46A1(3)
0.012 1.000 5.46e-3 6.63e-3 ✓ sig. —
Coffin-siris syndrome Upper extremity fracture
1 gene
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1 of 1 corroborated by 2+ sources
ARID1A(6)
0.045 0.200 5.51e-3 6.70e-3 ✓ sig. —
Hepatic veno occlusive disease with immunodeficiency Leukemia
1 gene
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1 of 1 corroborated by 2+ sources
SP140(2)
0.022 0.500 5.58e-3 6.78e-3 ✓ sig. —
Nasopharyngeal neoplasms Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
TREM2(7)
0.022 0.500 5.58e-3 6.78e-3 ✓ sig. —
Marfan syndrome Progressive arterial occlusive disease with hypertension
1 gene
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1 of 1 corroborated by 2+ sources
YY1AP1(2)
0.022 0.500 5.58e-3 6.78e-3 ✓ sig. —

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