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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
Intestinal pseudo-obstruction microcephaly with lissencephaly and/or hydranencephaly
1 gene
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1 of 1 corroborated by 2+ sources
NDE1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 220 →
Cleft eyelid microphthalmia, isolated, with coloboma 7
1 gene
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1 of 1 corroborated by 2+ sources
ABCB6(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 272 →
Microspherophakia Primary congenital glaucoma
1 gene
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1 of 1 corroborated by 2+ sources
LTBP2(5)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Microspherophakia Weill-marchesani syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LTBP2(7)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Middle aortic syndrome Watson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NF1(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 77 →
Alport syndrome Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AMMECR1(6)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 49 →
Mild cognitive impairment SLC6A3-related dopamine transporter deficiency syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC6A3(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 392 →
mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive Sengers syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC25A4(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 412 →
mucopolysaccharidosis type 3A Sanfilippo syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SGSH(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 134 →
mucopolysaccharidosis type 3B Sanfilippo syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NAGLU(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 134 →
mucopolysaccharidosis type 3C Sanfilippo syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HGSNAT(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 134 →
mucopolysaccharidosis type 3D Sanfilippo syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GNS(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 134 →
Multifocal osteomyelitis Sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
IL1RN(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 216 →
Dysgenesis of corpus callosum multiple congenital anomalies-neurodevelopmental syndrome, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
OTUD5(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 62 →
Multiple synostoses syndrome Proximal symphalangism
1 gene
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1 of 1 corroborated by 2+ sources
NOG(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Multiple synostoses syndrome NOG-related symphalangism spectrum disorder
1 gene
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1 of 1 corroborated by 2+ sources
NOG(5)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Pachyonychia congenita Sebocystomatosis
1 gene
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1 of 1 corroborated by 2+ sources
KRT17(6)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 160 →
Cataract-corneal dystrophy syndrome Paranoid schizophrenia
1 gene
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PAX6(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 74 →
Paranoid schizophrenia PAX6-related ocular dysgenesis
1 gene
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1 of 1 corroborated by 2+ sources
PAX6(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 74 →
Paroxysmal dystonia Paroxysmal dystonic choreoathetosis
1 gene
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1 of 1 corroborated by 2+ sources
PRRT2(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 58 →
Familial infantile convulsions with paroxysmal choreoathetosis Paroxysmal nonkinesigenic dyskinesia
1 gene
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1 of 1 corroborated by 2+ sources
PRRT2(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 58 →
Patterned macular dystrophy PRPH2-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
PRPH2(5)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Adrenocortical carcinoma Penile neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
TP53(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Choroid plexus carcinoma Penile neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
TP53(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Cardiac tamponade Pericardial effusion
1 gene
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1 of 1 corroborated by 2+ sources
PLAT(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —

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