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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
Breast/nipple aplasia or hypoplasia Conduct disorder
1 gene
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1 of 1 corroborated by 2+ sources
PTPRF(5)
0.019 1.000 3.38e-3 4.37e-3 ✓ sig. —
Oxysterol accumulation disorder Retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
CYP7B1(3)
0.019 1.000 3.38e-3 4.37e-3 ✓ sig. —
RD3-related retinopathy Retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RD3(2)
0.019 1.000 3.38e-3 4.37e-3 ✓ sig. Cluster 187 →
RDH5-related retinopathy Retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RDH5(2)
0.019 1.000 3.38e-3 4.37e-3 ✓ sig. —
Arrhythmogenic right ventricular cardiomyopathy lissencephaly 10
1 gene
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1 of 1 corroborated by 2+ sources
CEP85L(2)
0.019 1.000 3.38e-3 4.37e-3 ✓ sig. Cluster 4 →
Arrhythmogenic right ventricular cardiomyopathy long qt syndrome 5
1 gene
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1 of 1 corroborated by 2+ sources
KCNE1(2)
0.019 1.000 3.38e-3 4.37e-3 ✓ sig. —
Liver failure medium chain acyl-coa dehydrogenase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
ACADM(3)
0.019 1.000 3.38e-3 4.37e-3 ✓ sig. —
Mowat-wilson syndrome Pena-shokeir syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ZEB2(7)
0.019 1.000 3.38e-3 4.37e-3 ✓ sig. —
Arrhythmogenic right ventricular cardiomyopathy Atrial tachyarrhythmia, infra-hisian cardiac conduction disease
1 gene
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TNNI3K(1)
0.019 1.000 3.38e-3 4.37e-3 ✓ sig. Cluster 4 →
autoimmune lymphoproliferative syndrome type 1 Liver failure
1 gene
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1 of 1 corroborated by 2+ sources
FASLG(3)
0.019 1.000 3.38e-3 4.37e-3 ✓ sig. Cluster 368 →
Retinopathy thrombocytopenia 6
1 gene
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1 of 1 corroborated by 2+ sources
SRC(2)
0.019 1.000 3.38e-3 4.37e-3 ✓ sig. —
Urinary bladder dysfunction Vascular disease
1 gene
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1 of 1 corroborated by 2+ sources
CHRNA3(3)
0.019 1.000 3.38e-3 4.37e-3 ✓ sig. —
Retinopathy X-linked retinitis pigmentosa
1 gene
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1 of 1 corroborated by 2+ sources
RP2(3)
0.019 1.000 3.38e-3 4.37e-3 ✓ sig. —
Corpus callosum agenesis with facial anomalies and cerebellar ataxia Osteonecrosis of the femoral head
1 gene
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1 of 1 corroborated by 2+ sources
FRMD4A(3)
0.019 1.000 3.38e-3 4.37e-3 ✓ sig. —
Corpus callosum agenesis with facial anomalies and cerebellar ataxia Vascular disease
1 gene
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1 of 1 corroborated by 2+ sources
FRMD4A(3)
0.019 1.000 3.38e-3 4.37e-3 ✓ sig. —
Cria syndrome Osteonecrosis of the femoral head
1 gene
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1 of 1 corroborated by 2+ sources
RIPK1(2)
0.019 1.000 3.38e-3 4.37e-3 ✓ sig. —
Arrhythmogenic right ventricular cardiomyopathy familial isolated arrhythmogenic right ventricular dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
DSC2(6)
0.019 1.000 3.38e-3 4.37e-3 ✓ sig. Cluster 4 →
fructose-1,6-bisphosphatase deficiency Liver failure
1 gene
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1 of 1 corroborated by 2+ sources
FBP1(3)
0.019 1.000 3.38e-3 4.37e-3 ✓ sig. —
gaze palsy, familial horizontal, with progressive scoliosis 1 Retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
ROBO3(2)
0.019 1.000 3.38e-3 4.37e-3 ✓ sig. —
Genetic renal tubular disease Vascular disease
1 gene
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1 of 1 corroborated by 2+ sources
SLC12A3(2)
0.019 1.000 3.38e-3 4.37e-3 ✓ sig. —
Congenital anomalies of the kidney and urinary tract renal dysplasia, cystic, susceptibility to
1 gene
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1 of 1 corroborated by 2+ sources
BICC1(2)
0.019 1.000 3.44e-3 4.45e-3 ✓ sig. —
Gastric ulcer renal hypomagnesemia 4
1 gene
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1 of 1 corroborated by 2+ sources
EGF(2)
0.019 1.000 3.44e-3 4.45e-3 ✓ sig. —
Lymphoma T-B+ severe combined immunodeficiency due to JAK3 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
JAK3(2)
0.019 1.000 3.44e-3 4.45e-3 ✓ sig. —
Alexander disease Peripheral nervous system disease
1 gene
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1 of 1 corroborated by 2+ sources
GFAP(4)
0.019 1.000 3.44e-3 4.45e-3 ✓ sig. —
Congenital anomalies of the kidney and urinary tract nephronophthisis 1
1 gene
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1 of 1 corroborated by 2+ sources
NPHP1(2)
0.019 1.000 3.44e-3 4.45e-3 ✓ sig. —

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