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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
Common atrium Ebstein anomaly
1 gene
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CDK8(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Complex spastic paraplegia De barsy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Complex spastic paraplegia P5CS deficiency
1 gene
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1 of 1 corroborated by 2+ sources
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cone dystrophy, x-linked red-green color blindness
1 gene
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1 of 1 corroborated by 2+ sources
OPN1MW(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 214 →
Cone dystrophy, x-linked Retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness
1 gene
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1 of 1 corroborated by 2+ sources
RPGR(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cone dystrophy, x-linked RPGR-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RPGR(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cone monochromatism red color blindness
1 gene
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1 of 1 corroborated by 2+ sources
OPN1LW(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 214 →
Cone monochromatism red-green color blindness
1 gene
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1 of 1 corroborated by 2+ sources
OPN1MW(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 214 →
Cone-rod dystrophy, x-linked Retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness
1 gene
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1 of 1 corroborated by 2+ sources
RPGR(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 84 →
Congenital amegakaryocytic thrombocytopenia Thrombocythemia with distal limb defects
1 gene
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1 of 1 corroborated by 2+ sources
THPO(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 53 →
Congenital aniridia Denys drash syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WT1(7)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 35 →
Congenital aniridia Drash syndrome
1 gene
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WT1(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 35 →
Congenital aniridia wilms tumor 1
1 gene
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1 of 1 corroborated by 2+ sources
WT1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 35 →
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Renal hypoplasia
1 gene
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1 of 1 corroborated by 2+ sources
PBX1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital aortic valve atresia Intellectual developmental disorder seizures hypotonia skeletal
1 gene
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1 of 1 corroborated by 2+ sources
FOXP1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 324 →
Congenital asplenia Interrupted aortic arch
1 gene
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1 of 1 corroborated by 2+ sources
NKX2-5(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 161 →
Congenital asplenia NKX2.5-related congenital, conduction and myopathic heart disease
1 gene
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1 of 1 corroborated by 2+ sources
NKX2-5(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 161 →
Congenital aural atresia Congenital external auditory canal atresia
1 gene
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1 of 1 corroborated by 2+ sources
TSHZ1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 85 →
Congenital aural atresia Cutis gyrata syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FGFR2(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 85 →
Congenital camptodactyly Developmental delay with facial dysmorphism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MED13L(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 263 →
Congenital central hypothyroidism Thyroid hormone resistance
1 gene
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1 of 1 corroborated by 2+ sources
TRHR(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital cleft hand Congenital malformation syndromes predominantly involving limbs
1 gene
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DLX5(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 249 →
Congenital digestive system anomaly Medullary carcinoma
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 →
Congenital ectodermal dysplasia of face Focal facial dermal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
TWIST2(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Congenital epithelial dysplasia of intestine Congenital tufting enteropathy
1 gene
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1 of 1 corroborated by 2+ sources
EPCAM(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.