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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
Cerebellar ataxia-hypogonadism Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 91 →
Cerebellar ataxia-hypogonadism Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 91 →
Cerebellar malformation Rhyns syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TMEM67(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 306 →
Cerebellar, ocular, craniofacial, and genital syndrome Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MAB21L1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cerebelloparenchymal disorder Normal pressure hydrocephalus
1 gene
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1 of 1 corroborated by 2+ sources
PMPCA(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 133 →
cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 Myofibromatosis
1 gene
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1 of 1 corroborated by 2+ sources
NOTCH3(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cerebral folate deficiency neurodegenerative syndrome due to cerebral folate transport deficiency
1 gene
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1 of 1 corroborated by 2+ sources
FOLR1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cerebral small vessel disease Familial hematuria-retinal arteriolar tortuosity-contractures syndrome
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cerebrofacioarticular syndrome FAT4-related neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
FAT4(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cerebrotendinous xanthomatosis Xanthomatosis
1 gene
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1 of 1 corroborated by 2+ sources
CYP27A1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cervical dysplasia Microvascular angina
1 gene
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1 of 1 corroborated by 2+ sources
MTHFR(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 204 →
Cervical dysplasia homocystinuria due to methylene tetrahydrofolate reductase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
MTHFR(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 204 →
Charcot-Marie-Tooth disease type 2A2 Nail dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
MFN2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
CHEK2-related cancer predisposition Osteogenic sarcoma
1 gene
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1 of 1 corroborated by 2+ sources
CHEK2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 3 →
Childhood hypophosphatasia Hypophosphatasia
1 gene
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1 of 1 corroborated by 2+ sources
ALPL(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 363 →
Childhood hypophosphatasia Micromelia
1 gene
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1 of 1 corroborated by 2+ sources
ALPL(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 363 →
Childhood kidney wilms tumor CTR9-related neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
CTR9(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Childhood-onset basal ganglia degeneration syndrome Yunis-varon syndrome
1 gene
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1 of 1 corroborated by 2+ sources
VAC14(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 103 →
Childhood-onset glut1 deficiency syndrome 2 Chromosome 17q23.1-q23.2 deletion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC2A1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Childhood-onset glut1 deficiency syndrome 2 GLUT1 deficiency syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC2A1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Childhood-onset glut1 deficiency syndrome 2 Epilepsy with myoclonic absence
1 gene
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1 of 1 corroborated by 2+ sources
SLC2A1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Childhood-onset spinal muscular atrophy Hereditary axonal motor and sensory neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
BICD2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cholestanol storage disease Xanthomatosis
1 gene
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1 of 1 corroborated by 2+ sources
CYP27A1(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cholesterol embolism quebec platelet disorder
1 gene
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1 of 1 corroborated by 2+ sources
PLAU(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 123 →
Chondromyxoid fibroma Congenital cerebellar ataxia
1 gene
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GRM1(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —

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