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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
Benign infantile epilepsy Malignant migrating partial seizures of infancy
2 genes
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2 of 2 corroborated by 2+ sources
KCNQ2(3), SCN2A(2)
0.143 0.333 4.55e-6 2.38e-5 ✓ sig. —
Congenital joint contractures Contracture of multiple joints
2 genes
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COL6A3(1), GLDN(1)
0.143 0.333 4.55e-6 2.38e-5 ✓ sig. —
Kidney neoplasms Optic neuritis
3 genes
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3 of 3 corroborated by 2+ sources
ATP7B(2), GSTT1(2), SOD2(2)
0.059 0.231 4.56e-6 2.39e-5 ✓ sig. —
Diamond-blackfan anemia Pancytopenia
3 genes
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3 of 3 corroborated by 2+ sources
IKZF1(4), EPO(4), RPL17(2)
0.061 0.214 4.57e-6 2.39e-5 ✓ sig. —
Bestrophinopathy Distal myopathy
2 genes
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2 of 2 corroborated by 2+ sources
BEST1(7), PRPH2(2)
0.118 0.500 4.60e-6 2.40e-5 ✓ sig. —
Macrocytic anemia Pancytopenia
2 genes
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0.118 0.500 4.60e-6 2.40e-5 ✓ sig. —
Congenital epicanthus Macrocytic anemia
2 genes
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0.118 0.500 4.60e-6 2.40e-5 ✓ sig. —
Cleft palate and bilateral cleft lip Congenital fusion of ribs
2 genes
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0.118 0.500 4.60e-6 2.40e-5 ✓ sig. —
Bicuspid aortic valve Keratosis palmoplantaris striata
2 genes
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2 of 2 corroborated by 2+ sources
DSP(5), DSG1(2)
0.118 0.500 4.60e-6 2.40e-5 ✓ sig. —
Anti-glomerular basement membrane disease Granulomatosis with polyangiitis
2 genes
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2 of 2 corroborated by 2+ sources
HLA-DPB1(3), CTLA4(2)
0.118 0.500 4.60e-6 2.40e-5 ✓ sig. —
Bronchial hyperreactivity Overactive bladder
2 genes
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2 of 2 corroborated by 2+ sources
NGF(2), TRPA1(2)
0.118 0.500 4.60e-6 2.40e-5 ✓ sig. Cluster 206 →
Autoimmune polyendocrine syndrome Cartilage disease
2 genes
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2 of 2 corroborated by 2+ sources
0.118 0.500 4.60e-6 2.40e-5 ✓ sig. Cluster 1 →
Bestrophinopathy Neurodegeneration with brain iron accumulation
2 genes
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2 of 2 corroborated by 2+ sources
BEST1(7), FTH1(5)
0.118 0.500 4.60e-6 2.40e-5 ✓ sig. —
Trichothiodystrophy Xeroderma pigmentosum-cockayne syndrome
2 genes
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2 of 2 corroborated by 2+ sources
ERCC2(5), ERCC3(7)
0.133 0.400 4.63e-6 2.42e-5 ✓ sig. Cluster 86 →
Arthrogryposis Sheldon-hall syndrome
2 genes
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2 of 2 corroborated by 2+ sources
MYH3(2), TPM2(3)
0.133 0.400 4.63e-6 2.42e-5 ✓ sig. Cluster 202 →
Bernard-soulier syndrome Macrothrombocytopenia
2 genes
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2 of 2 corroborated by 2+ sources
GP1BB(7), GP1BA(8)
0.133 0.400 4.63e-6 2.42e-5 ✓ sig. —
Bell's palsy Nervous system disease
5 genes
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1 of 5 corroborated by 2+ sources
CDC5L(1), FARP1(1), GRIK2(1), SUPT3H(1), SLC2A1(3)
0.042 0.089 4.64e-6 2.42e-5 ✓ sig. Cluster 243 →
Dandy-walker syndrome Hydrocephalus
3 genes
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PDGFRB(1), BLTP1(1), DPH1(1)
0.068 0.150 4.78e-6 2.49e-5 ✓ sig. —
Retinopathy of prematurity Urethral obstruction
3 genes
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3 of 3 corroborated by 2+ sources
AGT(2), SERPINE1(2), NOS3(2)
0.068 0.150 4.78e-6 2.49e-5 ✓ sig. —
Amyloid neuropathy Splenomegaly
2 genes
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2 of 2 corroborated by 2+ sources
APP(2), PSEN1(2)
0.091 0.667 4.80e-6 2.50e-5 ✓ sig. —
Schimmelpenning-feuerstein-mims syndrome Splenomegaly
2 genes
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2 of 2 corroborated by 2+ sources
KRAS(2), NRAS(2)
0.091 0.667 4.80e-6 2.50e-5 ✓ sig. Cluster 18 →
Dandy-walker syndrome Hydrolethalus syndrome
2 genes
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1 of 2 corroborated by 2+ sources
HYLS1(7), PUS3(1)
0.091 0.667 4.80e-6 2.50e-5 ✓ sig. —
Hoarding disorder Pericardium disorder
2 genes
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LRRC3B(1), NEK10(1)
0.091 0.667 4.80e-6 2.50e-5 ✓ sig. Cluster 278 →
Hyperkinesia Seasonal affective disorder
3 genes
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3 of 3 corroborated by 2+ sources
NPY(2), HTR2A(2), HTR2C(2)
0.064 0.188 4.93e-6 2.56e-5 ✓ sig. —
Generalized epilepsy with febrile seizures plus Temporal lobe epilepsy
3 genes
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2 of 3 corroborated by 2+ sources
ANO4(1), CPA6(4), RELN(2)
0.064 0.188 4.93e-6 2.56e-5 ✓ sig. —

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