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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
Robinow syndrome Sweeney-cox syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TWIST1(5)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 127 →
Robinow syndrome TWIST1-related craniosynostosis
1 gene
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1 of 1 corroborated by 2+ sources
TWIST1(5)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 127 →
Congenital nystagmus RPE65-related dominant retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RPE65(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Congenital nystagmus RPE65-related recessive retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RPE65(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Osteosclerosis Sanjad-sakati syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TBCE(3)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 108 →
Penile hypospadia Schinzel-Giedion syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SETBP1(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia
1 gene
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1 of 1 corroborated by 2+ sources
COL10A1(6)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Hoyeraal hreidarsson syndrome Short telomere syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ACD(4)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. Cluster 64 →
snowflake vitreoretinal degeneration Vitreoretinal degeneration
1 gene
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1 of 1 corroborated by 2+ sources
KCNJ13(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Charcot-marie-tooth disease, x-linked Spastic ataxia of charlevoix-saguenay
1 gene
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1 of 1 corroborated by 2+ sources
SACS(2)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Acro-dermo-ungual-lacrimal-tooth syndrome Split hand-foot malformation
1 gene
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1 of 1 corroborated by 2+ sources
TP63(5)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Ankyloblepharon-ectodermal defects-cleft lip/palate Split hand-foot malformation
1 gene
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1 of 1 corroborated by 2+ sources
TP63(6)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Limb-mammary syndrome Split hand-foot malformation
1 gene
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1 of 1 corroborated by 2+ sources
TP63(5)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Rudiger syndrome Split hand-foot malformation
1 gene
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1 of 1 corroborated by 2+ sources
TP63(5)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
dyskeratosis congenita, autosomal dominant 2 Telomere-related pulmonary fibrosis and/or bone marrow failure
1 gene
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1 of 1 corroborated by 2+ sources
TERT(6)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Congenital chromosomal disease Telomere-related pulmonary fibrosis and/or bone marrow failure
1 gene
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1 of 1 corroborated by 2+ sources
POT1(4)
0.111 1.000 5.20e-4 1.06e-3 ✓ sig. —
Congenital nystagmus Temperature-sensitive oculocutaneous albinism
1 gene
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1 of 1 corroborated by 2+ sources
TYR(3)
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 (ascending). Click a column header to sort.