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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
Glycogen phosphorylase kinase deficiency glycogen storage disease IXb
1 gene
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1 of 1 corroborated by 2+ sources
PHKB(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Glycogen phosphorylase kinase deficiency glycogen storage disease IXc
1 gene
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1 of 1 corroborated by 2+ sources
PHKG2(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Greither disease Palmoplantar keratoderma with congenital alopecia
1 gene
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1 of 1 corroborated by 2+ sources
GJA1(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 92 →
Greither disease Peripheral neuropathy with sensorineural hearing impairment syndrome
1 gene
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GJB3(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Caudate atrophy Cerebral cortical atrophy
1 gene
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TYROBP(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 333 →
Cecal neoplasms Intellectual developmental disorder dysmorphic ocular microcephaly peripheral
1 gene
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1 of 1 corroborated by 2+ sources
CTNNB1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 104 →
Cecal neoplasms CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy
1 gene
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1 of 1 corroborated by 2+ sources
CTNNB1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 104 →
Central apnea Chromosome xq28 duplication syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MECP2(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Central core disease Sacral agenesis
1 gene
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1 of 1 corroborated by 2+ sources
RYR1(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Central nervous system demyelinating disease Spinocerebellar ataxia blindness deafness syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PEX6(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 219 →
Central nervous system demyelinating disease megalencephalic leukoencephalopathy with subcortical cysts 1
1 gene
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1 of 1 corroborated by 2+ sources
MLC1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 219 →
Central nervous system disease Paraneoplastic syndrome
1 gene
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EPO(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 305 →
Central nervous system disease Esophageal stenosis
1 gene
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1 of 1 corroborated by 2+ sources
SOD2(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 305 →
Central nervous system disease Gemistocytic astrocytoma
1 gene
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1 of 1 corroborated by 2+ sources
IDH2(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
CEP290-related ciliopathy Encephalocele
1 gene
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1 of 1 corroborated by 2+ sources
CEP290(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 70 →
Cerebral cortical atrophy Hereditary axonal motor and sensory neuropathy
1 gene
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BICD2(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Cerebral cortical atrophy Nasu-hakola disease
1 gene
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1 of 1 corroborated by 2+ sources
TYROBP(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 333 →
Cerebral embolism Idiopathic infantile hypercalcemia
1 gene
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1 of 1 corroborated by 2+ sources
KL(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Cerebral embolism Tumoral calcinosis
1 gene
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1 of 1 corroborated by 2+ sources
KL(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 407 →
Cerebral microangiopathy Familial hematuria-retinal arteriolar tortuosity-contractures syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 154 →
Cerebral microangiopathy Colpocephaly
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 154 →
Cerebral microangiopathy Retinal arterial tortuosity
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 154 →
Cerebral microangiopathy COL4A1-related disorder
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 154 →
Cerebroretinal microangiopathy with calcifications and cysts Congenital chromosomal disease
1 gene
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1 of 1 corroborated by 2+ sources
POT1(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Cerebrovascular trauma Coronary syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PHACTR1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —

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