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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
Intellectual developmental disorder seizures dysmorphic gait Skraban-deardorff syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WDR26(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Intellectual developmental disorder seizures dysmorphic skeletal Intellectual developmental disorder seizures hypotonia skeletal
1 gene
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1 of 1 corroborated by 2+ sources
PIGT(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Intellectual developmental disorder seizures hypotonia skeletal multiple congenital anomalies-hypotonia-seizures syndrome 3
1 gene
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1 of 1 corroborated by 2+ sources
PIGT(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Intellectual disability with craniofacial anomalies and cardiac defects Intellectual disability with craniofacial dysmorphism and macrocephaly
1 gene
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1 of 1 corroborated by 2+ sources
H1-4(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Interleukin 1 receptor antagonist deficiency Sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
IL1RN(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 216 →
Interleukin 2 receptor deficiency Neonatal diabetes mellitus with congenital hypothyroidism
1 gene
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1 of 1 corroborated by 2+ sources
IL2RA(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 394 →
Intermittent hydrarthrosis TNF receptor 1-associated periodic fever syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Interrupted aortic arch Splenic hypoplasia
1 gene
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NKX2-5(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 161 →
Interstitial nephritis karyomegalic interstitial nephritis
1 gene
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1 of 1 corroborated by 2+ sources
FAN1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Intestinal polyposis peutz-jeghers syndrome
1 gene
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1 of 1 corroborated by 2+ sources
STK11(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Intracranial embolism and thrombosis quebec platelet disorder
1 gene
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1 of 1 corroborated by 2+ sources
PLAU(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 123 →
Cardiac tamponade Intracranial embolism and thrombosis
1 gene
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1 of 1 corroborated by 2+ sources
PLAT(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
IRIDA syndrome Iron-refractory iron deficiency anemia
1 gene
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1 of 1 corroborated by 2+ sources
TMPRSS6(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Iridogoniodysgenesis Ring dermoid of cornea
1 gene
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1 of 1 corroborated by 2+ sources
PITX2(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 253 →
Ischiocoxopodopatellar syndrome with pulmonary arterial hypertension Patellar aplasia
1 gene
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1 of 1 corroborated by 2+ sources
TBX4(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 24 →
Jervell and lange-nielsen syndrome long qt syndrome 5
1 gene
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1 of 1 corroborated by 2+ sources
KCNE1(7)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Juvenile hyperuricemic nephropathy renal tubular dysgenesis of genetic origin
1 gene
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1 of 1 corroborated by 2+ sources
REN(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 95 →
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps KAT6B-related multiple congenital anomalies syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KAT6B(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Keppen-lubinsky syndrome MYH-6 related congenital heart defects
1 gene
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1 of 1 corroborated by 2+ sources
MYH6(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 318 →
Keratitis ichthyosis hearing loss syndrome Senter syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GJB2(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Keratitis ichthyosis hearing loss syndrome Vohwinkel syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GJB2(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 322 →
keutel syndrome Vascular calcification
1 gene
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1 of 1 corroborated by 2+ sources
MGP(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 104 →
kidney disorder Nephronophthisis-like nephropathy
1 gene
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1 of 1 corroborated by 2+ sources
SLC41A1(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Lactic acidosis Normal pressure hydrocephalus
1 gene
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PMPCA(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 133 →
Erythrocyte amp deaminase deficiency Myoadenylate deaminase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
AMPD3(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —

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