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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
Familial hematuria-retinal arteriolar tortuosity-contractures syndrome Schizencephaly
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Colpocephaly Schizencephaly
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
SCN4A-related myopathy, autosomal recessive Sotos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SCN4A(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 163 →
Hyperuricemic nephropathy SEC61A1 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
SEC61A1(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 23 →
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome Sotos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SETD2(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth Sotos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SETD2(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Sheldon-hall syndrome TPM2-related myopathy
1 gene
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1 of 1 corroborated by 2+ sources
TPM2(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 202 →
sorsby fundus dystrophy Urinary bladder diseases
1 gene
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1 of 1 corroborated by 2+ sources
TIMP3(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 112 →
46,xx sex reversal SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
SOX3(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
dyskeratosis congenita, autosomal dominant 2 Telomere syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TERT(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Ambiguous genitalia P450 oxidoreductase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
POR(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Chordoma PALB2-related cancer predisposition
1 gene
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1 of 1 corroborated by 2+ sources
PALB2(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Paresthesia Ventricular outflow obstruction
1 gene
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1 of 1 corroborated by 2+ sources
INS(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Paris-trousseau thrombocytopenia Skeletal ewing sarcoma
1 gene
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1 of 1 corroborated by 2+ sources
FLI1(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 309 →
Peripheral primitive neuroectodermal tumor Skeletal ewing sarcoma
1 gene
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FLI1(1)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 309 →
Liver cyst Periventricular heterotopia
1 gene
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PKD1(1)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Periventricular heterotopia X-linked lissencephaly
1 gene
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1 of 1 corroborated by 2+ sources
ARX(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 259 →
Periventricular heterotopia X-linked spasticity-intellectual disability-epilepsy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ARX(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 259 →
perrault syndrome 5 Ptosis
1 gene
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1 of 1 corroborated by 2+ sources
TWNK(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
perrault syndrome 5 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
1 gene
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1 of 1 corroborated by 2+ sources
TWNK(6)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 97 →
Post-operative atrial fibrillation primrose syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ZBTB20(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Potassium-aggravated myotonia Sotos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SCN4A(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 163 →
progressive retinal dystrophy due to retinol transport defect Vitamin a deficiency
1 gene
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1 of 1 corroborated by 2+ sources
RBP4(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 24 →
Hereditary breast-ovarian cancer syndrome RAD51C-related cancer predisposition
1 gene
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1 of 1 corroborated by 2+ sources
RAD51C(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Hereditary breast-ovarian cancer syndrome RAD51D-related cancer predisposition
1 gene
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1 of 1 corroborated by 2+ sources
RAD51D(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 132 →

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