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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
Carcinoid syndrome Pheochromocytoma/paraganglioma syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SDHD(4)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 81 →
Cataplexy Niemann-pick disease
1 gene
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1 of 1 corroborated by 2+ sources
NPC1(8)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Myeloproliferative disease, unclassifiable Primary familial brain calcification
1 gene
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1 of 1 corroborated by 2+ sources
PDGFRB(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
myopathy caused by variation in POMT1 Pyridoxine dependent epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
POMT1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
myopathy, centronuclear, 6, with fiber-type disproportion Split hand-foot malformation
1 gene
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1 of 1 corroborated by 2+ sources
MAP3K20(7)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Metachromatic leukodystrophy Myotonia congenita
1 gene
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1 of 1 corroborated by 2+ sources
CLCN1(3)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Charcot-marie-tooth disease, x-linked neuronopathy, distal hereditary motor, autosomal recessive 5
1 gene
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1 of 1 corroborated by 2+ sources
DNAJB2(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 15 →
Niemann-pick disease Visceral acid sphingomyelinase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
SMPD1(7)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
46,xy partial gonadal dysgenesis NR5A1-related sex development disorder
1 gene
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1 of 1 corroborated by 2+ sources
NR5A1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 38 →
obsolete early infantile epileptic encephalopathy Pyridoxine dependent epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
GAD1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Congenital nystagmus oculocutaneous albinism type 1
1 gene
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1 of 1 corroborated by 2+ sources
TYR(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Congenital nystagmus oculocutaneous albinism type 2
1 gene
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1 of 1 corroborated by 2+ sources
OCA2(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
oculocutaneous albinism type 2 Prader-willi syndrome
1 gene
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1 of 1 corroborated by 2+ sources
OCA2(3)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
ornithine carbamoyltransferase deficiency Urea cycle disorder
1 gene
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1 of 1 corroborated by 2+ sources
OTC(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
ornithine translocase deficiency Urea cycle disorder
1 gene
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1 of 1 corroborated by 2+ sources
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 367 →
Intellectual developmental disorder dysmorphic ocular microcephaly peripheral Osteosclerosis
1 gene
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1 of 1 corroborated by 2+ sources
CTNNB1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy Osteosclerosis
1 gene
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1 of 1 corroborated by 2+ sources
CTNNB1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Episodic ataxia Hereditary continuous muscle fiber activity
1 gene
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1 of 1 corroborated by 2+ sources
KCNA1(7)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Erythrocytosis due to tissue hypoxemia Secondary polycythemia
1 gene
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1 of 1 corroborated by 2+ sources
VHL(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Eye pain Facial nerve disorder
1 gene
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1 of 1 corroborated by 2+ sources
POMC(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Facial nerve disorder Rhabdomyoma
1 gene
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1 of 1 corroborated by 2+ sources
POMC(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Facial nerve disorder Sacroiliitis
1 gene
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1 of 1 corroborated by 2+ sources
POMC(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
C3 glomerulonephritis Factor i deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CFI(4)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Factor i deficiency Mesangiocapillary glomerulonephritis
1 gene
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CFI(1)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Familial focal epilepsy with variable foci Trident hand
1 gene
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NPR2(1)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —

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