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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
Conductive hearing loss Terminal osseous dysplasia with pigmentary defects
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(6)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 62 →
Central areolar choroidal dystrophy cone dystrophy 3
1 gene
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1 of 1 corroborated by 2+ sources
GUCA1A(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 45 →
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Hyperandrogenism
1 gene
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1 of 1 corroborated by 2+ sources
CYP21A2(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 339 →
Congenital aortic valve atresia Malt lymphoma
1 gene
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1 of 1 corroborated by 2+ sources
FOXP1(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 324 →
Congenital atransferrinemia Hypochromic microcytic anemia
1 gene
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1 of 1 corroborated by 2+ sources
TF(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Sheldon-hall syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NALCN(5)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Congenital corneal opacity Congenital ptosis
1 gene
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1 of 1 corroborated by 2+ sources
ZFHX4(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 279 →
Congenital diarrhea Congenital tufting enteropathy
1 gene
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1 of 1 corroborated by 2+ sources
EPCAM(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Congenital diarrhea Duodenal atresia
1 gene
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1 of 1 corroborated by 2+ sources
GUCY2C(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 172 →
Congenital factor xi deficiency Intracranial thrombosis
1 gene
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1 of 1 corroborated by 2+ sources
F11(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Congenital finger flexion contractures Sheldon-hall syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TNNI2(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 202 →
Arachnodactyly Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
1 gene
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1 of 1 corroborated by 2+ sources
NSDHL(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 381 →
Congenital hemivertebra Right aortic arch
1 gene
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BLTP1(1)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Congenital hemivertebra Liver cyst
1 gene
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PKD1(1)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Congenital hemivertebra joubert syndrome 1
1 gene
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1 of 1 corroborated by 2+ sources
INPP5E(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Congenital hemivertebra MORM syndrome
1 gene
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1 of 1 corroborated by 2+ sources
INPP5E(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Collagenopathy Congenital hip dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 11 →
Congenital hip dysplasia Coxa plana
1 gene
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COL2A1(1)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 11 →
Congenital hip dysplasia Czech dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 11 →
Congenital hip dysplasia Dysspondyloenchondromatosis
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 11 →
Congenital hip dysplasia kniest dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 11 →
Congenital hypogonadotropic hypogonadism Schizencephaly
1 gene
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1 of 1 corroborated by 2+ sources
EMX2(5)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 232 →
Cataract-corneal dystrophy syndrome Congenital iris coloboma
1 gene
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PAX6(1)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Congenital iris coloboma PAX6-related ocular dysgenesis
1 gene
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1 of 1 corroborated by 2+ sources
PAX6(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Congenital limbs-face contractures-hypotonia-developmental delay syndrome Sheldon-hall syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NALCN(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —

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