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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 nasopharyngeal atresia Situs ambiguus
6 genes
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DNAH5(1), CCDC39(1), CCDC40(1), DNAAF1(1), DNAAF11(1), CFAP298(1)
0.130 0.286 1.71e-12 1.99e-11 ✓ sig. —
Congenital heart disease Craniofacial abnormalities
17 genes
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17 of 17 corroborated by 2+ sources
FGF8(4), TBX1(2), UFD1(2), NOTCH1(2), FOXP2(3), TGFB2(2), RCAN1(2), PITX2(2), AHR(3), STRA6(2), PTCH1(2), LRP2(2) +5 more
0.054 0.109 1.69e-12 1.96e-11 ✓ sig. Cluster 111 →
Centronuclear myopathy Congenital fiber type disproportion myopathy
5 genes
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4 of 5 corroborated by 2+ sources
ACTA1(3), MAP3K20(3), MTM1(1), RYR1(3), TPM3(3)
0.172 0.455 1.68e-12 1.96e-11 ✓ sig. Cluster 189 →
Nervous system disease Non-neoplastic peripheral nervous system disease
9 genes
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9 of 9 corroborated by 2+ sources
DPYD(2), GFAP(2), NGF(2), PNPLA6(2), CSF3(2), ABCB1(2), CYP2C8(2), CASP9(2), ATF3(2)
0.079 0.167 1.68e-12 1.95e-11 ✓ sig. Cluster 243 →
Necrosis Proteinuria
8 genes
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AGT(1), CTSB(1), FAS(1), POMC(1), SOD1(1), IFNG(1), IL1RN(1), HAVCR1(1)
0.089 0.190 1.67e-12 1.95e-11 ✓ sig. —
Amyloidosis Visceral amyloidosis
4 genes
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4 of 4 corroborated by 2+ sources
APOA1(3), FGA(5), LYZ(4), B2M(5)
0.200 1.000 1.66e-12 1.93e-11 ✓ sig. Cluster 228 →
Congenital pain insensitivity Hereditary sensory and autonomic neuropathy
4 genes
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4 of 4 corroborated by 2+ sources
NGF(5), SCN11A(6), SCN9A(5), PRDM12(4)
0.200 1.000 1.66e-12 1.93e-11 ✓ sig. —
Eosinophilia Respiratory system disease
17 genes
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5 of 17 corroborated by 2+ sources
EMSY(1), FOXO1(1), HLA-DQA1(3), HLA-DRB1(3), JAZF1(1), RORA(1), SHARPIN(3), TIMP2(1), HS3ST4(1), SMAD3(1), JAK2(1), CLEC16A(1) +5 more
0.050 0.152 1.65e-12 1.93e-11 ✓ sig. —
Eichsfeld type congenital muscular dystrophy Rigid spine muscular dystrophy
3 genes
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3 of 3 corroborated by 2+ sources
ACTA1(3), HMGCS1(2), SELENON(4)
0.750 1.000 1.64e-12 1.92e-11 ✓ sig. —
Hearing loss with stapes fixation X-linked hearing loss with perilymphatic gusher
3 genes
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3 of 3 corroborated by 2+ sources
GJB6(3), GJB2(3), POU3F4(4)
0.750 1.000 1.64e-12 1.92e-11 ✓ sig. Cluster 210 →
Hemoglobin barts fetalis syndrome Hemoglobin h disease
3 genes
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2 of 3 corroborated by 2+ sources
HBA1(5), HBA2(5), ATRX(1)
0.750 1.000 1.64e-12 1.92e-11 ✓ sig. Cluster 72 →
Hemoglobin m disease Unstable hemoglobin disease
3 genes
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3 of 3 corroborated by 2+ sources
HBA1(5), HBA2(4), HBB(5)
0.750 1.000 1.64e-12 1.92e-11 ✓ sig. Cluster 72 →
Hepatic methionine adenosyltransferase deficiency S-adenosylhomocysteine hydrolase deficiency
3 genes
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2 of 3 corroborated by 2+ sources
AHCY(2), MAT1A(2), GNMT(1)
0.750 1.000 1.64e-12 1.92e-11 ✓ sig. Cluster 83 →
Hereditary xerocytosis Xerocytosis
3 genes
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3 of 3 corroborated by 2+ sources
PIEZO1(7), SLC4A1(2), KCNN4(6)
0.750 1.000 1.64e-12 1.92e-11 ✓ sig. —
Hypercalcemic tumoral calcinosis Hyperphosphatemic tumoral calcinosis
3 genes
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3 of 3 corroborated by 2+ sources
KL(2), GALNT3(2), FGF23(2)
0.750 1.000 1.64e-12 1.92e-11 ✓ sig. Cluster 407 →
Cholesterol ester transfer protein deficiency Hyperalphalipoproteinemia
3 genes
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3 of 3 corroborated by 2+ sources
SCARB1(2), APOC3(3), CETP(6)
0.750 1.000 1.64e-12 1.92e-11 ✓ sig. —
Cold-induced sweating syndrome Crisponi syndrome
3 genes
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3 of 3 corroborated by 2+ sources
KLHL7(4), CLCF1(6), CRLF1(7)
0.750 1.000 1.64e-12 1.92e-11 ✓ sig. Cluster 331 →
collagen 6-related myopathy Collagen vi muscular dystrophy
3 genes
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3 of 3 corroborated by 2+ sources
COL6A3(3), COL6A1(3), COL6A2(3)
0.750 1.000 1.64e-12 1.92e-11 ✓ sig. Cluster 393 →
Combined immunodeficiency, enteropathy spectrum Gastrointestinal defects and immunodeficiency syndrome
3 genes
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2 of 3 corroborated by 2+ sources
PI4KA(3), MCFD2(1), TTC7A(4)
0.750 1.000 1.64e-12 1.92e-11 ✓ sig. Cluster 267 →
Congenital afibrinogenemia Congenital fibrinogen deficiency
3 genes
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3 of 3 corroborated by 2+ sources
FGA(4), FGG(4), FGB(4)
0.750 1.000 1.64e-12 1.92e-11 ✓ sig. Cluster 149 →
Congenital afibrinogenemia Congenital hypofibrinogenemia
3 genes
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3 of 3 corroborated by 2+ sources
FGA(3), FGG(3), FGB(2)
0.750 1.000 1.64e-12 1.92e-11 ✓ sig. Cluster 149 →
Congenital afibrinogenemia Hypofibrinogenemia
3 genes
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3 of 3 corroborated by 2+ sources
FGA(5), FGG(4), FGB(4)
0.750 1.000 1.64e-12 1.92e-11 ✓ sig. Cluster 149 →
Congenital fibrinogen deficiency Congenital hypofibrinogenemia
3 genes
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3 of 3 corroborated by 2+ sources
FGA(3), FGG(3), FGB(3)
0.750 1.000 1.64e-12 1.92e-11 ✓ sig. Cluster 149 →
Congenital fibrinogen deficiency Hypofibrinogenemia
3 genes
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3 of 3 corroborated by 2+ sources
FGA(5), FGG(4), FGB(4)
0.750 1.000 1.64e-12 1.92e-11 ✓ sig. Cluster 149 →
Congenital hypofibrinogenemia Hypofibrinogenemia
3 genes
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3 of 3 corroborated by 2+ sources
FGA(3), FGG(3), FGB(3)
0.750 1.000 1.64e-12 1.92e-11 ✓ sig. Cluster 149 →

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