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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
fanconi anemia complementation group g Pituitary stalk interruption syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FANCG(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
fanconi anemia complementation group p Pituitary stalk interruption syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLX4(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Auditory neuropathy FDXR-related optic atrophy mitochondrial dysfunction syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FDXR(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Congenital microcephaly FOXG1 disorder
1 gene
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1 of 1 corroborated by 2+ sources
FOXG1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
frontorhiny Neural tube defects, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
ALX3(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
frontotemporal dementia and/or amyotrophic lateral sclerosis Neuronal ceroid lipofuscinosis
1 gene
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1 of 1 corroborated by 2+ sources
GRN(6)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Gallbladder agenesis Hyperplasia
1 gene
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1 of 1 corroborated by 2+ sources
MYCN(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Gestational trophoblastic disease Membranous glomerulonephritis
1 gene
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1 of 1 corroborated by 2+ sources
POU5F1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
glycogen storage disease II Membranous glomerulonephritis
1 gene
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1 of 1 corroborated by 2+ sources
GAA(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Glycoprotein storage disease Membranous glomerulonephritis
1 gene
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GAA(1)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
GPR161-related medulloblastoma predisposition Pituitary stalk interruption syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GPR161(3)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. Cluster 54 →
GRHL3-related orofacial clefting Neural tube defects, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
GRHL3(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Neurodegeneration peripheral neuropathy syndrome Neuronal ceroid lipofuscinosis
1 gene
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1 of 1 corroborated by 2+ sources
CLCN6(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
neurodegeneration, childhood-onset, with cerebellar atrophy Pontocerebellar hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
AGTPBP1(3)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities Neuronal ceroid lipofuscinosis
1 gene
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1 of 1 corroborated by 2+ sources
CLCN6(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Neural tube defects, x-linked neurodegenerative syndrome due to cerebral folate transport deficiency
1 gene
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1 of 1 corroborated by 2+ sources
FOLR1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Distal spinal muscular atrophy neuronopathy, distal hereditary motor, autosomal dominant
1 gene
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1 of 1 corroborated by 2+ sources
HSPB8(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Distal spinal muscular atrophy neuronopathy, distal hereditary motor, type 7A
1 gene
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1 of 1 corroborated by 2+ sources
SLC5A7(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Hyperplasia megalencephaly-polydactyly syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MYCN(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Hyperplasia methionine adenosyltransferase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
MAT1A(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Congenital microcephaly microcephalic primordial dwarfism due to RTTN deficiency
1 gene
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1 of 1 corroborated by 2+ sources
RTTN(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Congenital microcephaly microcephaly 2, primary, autosomal recessive, with or without cortical malformations
1 gene
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1 of 1 corroborated by 2+ sources
WDR62(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Congenital microcephaly microcephaly with intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
MCPH1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Congenital microcephaly microcephaly with or without short stature
1 gene
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1 of 1 corroborated by 2+ sources
CEP152(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. Cluster 101 →
Congenital microcephaly microcephaly, seizures, and developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
PNKP(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —

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