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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
spondylometaphyseal dysplasia, 'corner fracture' type Urethral obstruction
1 gene
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1 of 1 corroborated by 2+ sources
FN1(2)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Leukodystrophy Sterol carrier protein 2 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
SCP2(4)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Hydrocephalus myopathy caused by variation in POMGNT1
1 gene
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1 of 1 corroborated by 2+ sources
POMGNT1(2)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Cystic kidney disease nephronophthisis 16
1 gene
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1 of 1 corroborated by 2+ sources
ANKS6(2)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Cystic kidney disease nephronophthisis 2
1 gene
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1 of 1 corroborated by 2+ sources
INVS(2)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. Cluster 8 →
Leukodystrophy Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairment
1 gene
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1 of 1 corroborated by 2+ sources
SLC9A6(3)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Bradycardia Neurogenic bladder
1 gene
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CHRM2(1)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. Cluster 13 →
Congenital ocular coloboma Neurooculocardio-genitourinary syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WDR37(6)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. Cluster 272 →
Congenital ocular coloboma Orbital disease
1 gene
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1 of 1 corroborated by 2+ sources
RARB(2)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Amino acid metabolism disorder ornithine translocase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Biliary-renal-neuro-skeletal syndrome Hydrocephalus
1 gene
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1 of 1 corroborated by 2+ sources
IFT56(3)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Anhedonia Capos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ATP1A3(2)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Cardiac arrest Cardiogenetic disease
1 gene
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1 of 1 corroborated by 2+ sources
CACNB2(2)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Cataract-microcornea-metabolic syndrome Congenital ocular coloboma
1 gene
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1 of 1 corroborated by 2+ sources
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. Cluster 272 →
Congenital ocular coloboma Thauvin-robinet-faivre syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FIBP(3)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Congenital ocular coloboma Uveal coloboma-cleft lip and palate-intellectual disability
1 gene
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1 of 1 corroborated by 2+ sources
YAP1(4)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Leukodystrophy Wiedemann-rautenstrauch syndrome
1 gene
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1 of 1 corroborated by 2+ sources
POLR3A(3)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Amino acid metabolism disorder xeroderma pigmentosum group C
1 gene
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1 of 1 corroborated by 2+ sources
XPC(3)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Cystic kidney disease FAT4-related neurodevelopmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
FAT4(2)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Focal epilepsy with speech disorder and impaired intellectual development Language development disorders
1 gene
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1 of 1 corroborated by 2+ sources
GRIN2A(3)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
glomerulopathy with fibronectin deposits 2 Urethral obstruction
1 gene
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1 of 1 corroborated by 2+ sources
FN1(2)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
glutaric acidemia type 3 Language development disorders
1 gene
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1 of 1 corroborated by 2+ sources
SUGCT(2)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Leukodystrophy leukodystrophy, hypomyelinating, 18
1 gene
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1 of 1 corroborated by 2+ sources
DEGS1(2)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. Cluster 100 →
Leukodystrophy leukodystrophy, hypomyelinating, 25
1 gene
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1 of 1 corroborated by 2+ sources
TMEM163(2)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —
Leukodystrophy Leukoencephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
AARS1(3)
0.037 1.000 1.69e-3 2.53e-3 ✓ sig. —

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