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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
lissencephaly with cerebellar hypoplasia Sacroiliac arthritis
1 gene
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1 of 1 corroborated by 2+ sources
RELN(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
lissencephaly with cerebellar hypoplasia Sacroiliac joint synovitis
1 gene
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1 of 1 corroborated by 2+ sources
RELN(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Lissencephaly, x-linked X-linked lissencephaly
1 gene
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1 of 1 corroborated by 2+ sources
ARX(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 259 →
Lissencephaly, x-linked X-linked spasticity-intellectual disability-epilepsy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ARX(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 259 →
Liver cyst Polycystic kidney disease with tuberous sclerosis
1 gene
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1 of 1 corroborated by 2+ sources
PKD1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 70 →
Liver cyst Renovascular hypertension
1 gene
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PKD1(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 70 →
Liver cyst Pancreatic cyst
1 gene
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PKD1(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 70 →
Liver cyst Polycystic kidneys, severe infantile with tuberous sclerosis
1 gene
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PKD1(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 70 →
LRP5-related exudative vitreoretinopathy Osteopetrosis and infantile neuroaxonal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
LRP5(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 98 →
LRP5-related exudative vitreoretinopathy Retinopathy background
1 gene
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1 of 1 corroborated by 2+ sources
LRP5(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 98 →
Malignant hyperthermia RYR1-related myopathy
1 gene
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1 of 1 corroborated by 2+ sources
RYR1(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 326 →
Malignant hyperthermia Periodic paralysis with transient compartment-like syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CACNA1S(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 326 →
Malouf syndrome Restrictive dermopathy
1 gene
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1 of 1 corroborated by 2+ sources
LMNA(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 65 →
mandibular hypoplasia-deafness-progeroid syndrome non-severe combined immunodeficiency due to polymerase delta deficiency
1 gene
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POLD1(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 410 →
Medullary carcinoma Medullary thyroid cancer
1 gene
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RET(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 152 →
Medullary carcinoma multiple endocrine neoplasia type 2B
1 gene
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1 of 1 corroborated by 2+ sources
RET(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 152 →
Medullary carcinoma multiple endocrine neoplasia type 2A
1 gene
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1 of 1 corroborated by 2+ sources
RET(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 152 →
Feingold syndrome megalencephaly-polydactyly syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MYCN(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
melanoma-pancreatic cancer syndrome Vulvar lichen sclerosus
1 gene
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1 of 1 corroborated by 2+ sources
CDKN2A(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
mend syndrome X-linked chondrodysplasia punctata
1 gene
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1 of 1 corroborated by 2+ sources
EBP(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
microcephaly 2, primary, autosomal recessive, with or without cortical malformations Skraban-deardorff syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WDR62(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Microvascular angina Mitral valve disease
1 gene
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1 of 1 corroborated by 2+ sources
MTHFR(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Microvascular angina Rheumatic disease of mitral valve
1 gene
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1 of 1 corroborated by 2+ sources
MTHFR(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Microvascular angina Rheumatic mitral regurgitation
1 gene
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1 of 1 corroborated by 2+ sources
MTHFR(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Middle ear cholesteatoma Vaginal neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
IL2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —

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