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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
congenital disorder of glycosylation with defective fucosylation 2 Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
FCSK(2)
0.001 1.000 6.09e-2 6.25e-2 —
Congenital cataract microcephaly intellectual disability syndrome Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
MED25(2)
0.001 1.000 6.09e-2 6.25e-2 —
Hereditary sensory and autonomic neuropathy with spastic paraplegia Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
CCT5(2)
0.001 1.000 6.09e-2 6.25e-2 —
Hemiparkinsonism hemiatrophy syndrome Neurodevelopmental disorder
1 gene
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H3-3B(1)
0.001 1.000 6.09e-2 6.25e-2 —
hereditary fructose intolerance Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
ALDOB(2)
0.001 1.000 6.09e-2 6.25e-2 —
Neurodevelopmental disorder Usmani-riazuddin syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AP1G1(5)
0.001 1.000 6.09e-2 6.25e-2 Cluster 6 →
Absence of fingerprints-congenital milia syndrome Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
0.001 1.000 6.09e-2 6.25e-2 —
Neurodevelopmental disorder neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HNRNPK(4)
0.001 1.000 6.09e-2 6.25e-2 —
Neurodevelopmental disorder neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
NSRP1(5)
0.001 1.000 6.09e-2 6.25e-2 —
Neurodevelopmental disorder neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
MED27(5)
0.001 1.000 6.09e-2 6.25e-2 Cluster 6 →
Neurodevelopmental disorder neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
1 gene
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1 of 1 corroborated by 2+ sources
DPH5(5)
0.001 1.000 6.09e-2 6.25e-2 —
Neurodevelopmental disorder neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
1 gene
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1 of 1 corroborated by 2+ sources
0.001 1.000 6.09e-2 6.25e-2 Cluster 6 →
Neurodevelopmental disorder neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
NARS1(6)
0.001 1.000 6.09e-2 6.25e-2 —
Neurodevelopmental disorder neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
NARS1(6)
0.001 1.000 6.09e-2 6.25e-2 —
Neurodevelopmental disorder neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
1 gene
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1 of 1 corroborated by 2+ sources
0.001 1.000 6.09e-2 6.25e-2 Cluster 6 →
NAA10-related syndrome Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
NAA10(2)
0.001 1.000 6.09e-2 6.25e-2 —
NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
NACC1(6)
0.001 1.000 6.09e-2 6.25e-2 Cluster 6 →
Neurodevelopmental disorder neurodevelopmental disorder with hypotonia, neuropathy, and deafness
1 gene
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1 of 1 corroborated by 2+ sources
SPTBN4(5)
0.001 1.000 6.09e-2 6.25e-2 —
Neurodevelopmental disorder neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
PPP1R21(5)
0.001 1.000 6.09e-2 6.25e-2 —
Neurodevelopmental disorder neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
1 gene
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1 of 1 corroborated by 2+ sources
TRAPPC4(5)
0.001 1.000 6.09e-2 6.25e-2 Cluster 6 →
Neurodevelopmental disorder neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
1 gene
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1 of 1 corroborated by 2+ sources
GEMIN5(5)
0.001 1.000 6.09e-2 6.25e-2 —
neurodegeneration, childhood-onset, with cerebellar atrophy Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
AGTPBP1(4)
0.001 1.000 6.09e-2 6.25e-2 —
glycosylphosphatidylinositol biosynthesis defect 15 Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
GPAA1(3)
0.001 1.000 6.09e-2 6.25e-2 —
glutamate pyruvate transaminase 2 deficiency Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
GPT2(4)
0.001 1.000 6.09e-2 6.25e-2 Cluster 6 →
Brunet-wagner neurodevelopmental syndrome Neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
RBL2(5)
0.001 1.000 6.09e-2 6.25e-2 —

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