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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
Christ-siemens-touraine syndrome Craniofrontonasal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
EDA(2)
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. Cluster 117 →
Crystal arthropathy Pseudoxanthoma elasticum
1 gene
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1 of 1 corroborated by 2+ sources
ENPP1(2)
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. Cluster 128 →
Disseminated superficial actinic porokeratosis Hyper-immunoglobulin d syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MVK(3)
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. —
Dowling degos disease Weber-cockayne syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KRT5(6)
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. —
Coach syndrome Encephalocele
1 gene
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1 of 1 corroborated by 2+ sources
CC2D2A(3)
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. —
Endocrine neoplasms Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
1 gene
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1 of 1 corroborated by 2+ sources
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. —
Auriculocondylar syndrome Bronchiolitis obliterans
1 gene
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1 of 1 corroborated by 2+ sources
EDN1(7)
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. —
Ewing sarcoma Extraskeletal ewing sarcoma
1 gene
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1 of 1 corroborated by 2+ sources
EWSR1(3)
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. —
Ewing sarcoma Visceral heterotaxy
1 gene
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1 of 1 corroborated by 2+ sources
CIROZ(2)
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. —
Aplasia cutis congenita Galactokinase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
ITGB4(3)
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. —
Glycogen phosphorylase kinase deficiency Ocular albinism
1 gene
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1 of 1 corroborated by 2+ sources
PHKA2(2)
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. —
Bundle branch block Intellectual developmental disorder speech dysmorphic
1 gene
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1 of 1 corroborated by 2+ sources
SETBP1(2)
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. Cluster 271 →
Carcinoid tumor Sapho syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CDKAL1(2)
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. —
Cerebellar atrophy with seizures and variable developmental delay Paroxysmal nonkinesigenic dyskinesia
1 gene
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1 of 1 corroborated by 2+ sources
KCNMA1(4)
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. Cluster 58 →
Benign neonatal epilepsy Hemiplegia
1 gene
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1 of 1 corroborated by 2+ sources
SCN2A(2)
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. Cluster 165 →
22q13.3 deletion syndrome Urinary bladder diseases
1 gene
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1 of 1 corroborated by 2+ sources
INS(2)
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. Cluster 112 →
Sacral agenesis Vitamin a deficiency
1 gene
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1 of 1 corroborated by 2+ sources
BMP4(2)
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. Cluster 24 →
Respiratory system neoplasm Waldenstrom macroglobulinemia
1 gene
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IRF4(1)
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. Cluster 1 →
Craniofacial ulnar renal syndrome Wiedemann-steiner syndrome
1 gene
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CHD7(1)
0.111 0.250 1.30e-3 2.06e-3 ✓ sig. —
Brachycephaly Thyroid hormone resistance
1 gene
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1 of 1 corroborated by 2+ sources
TRHR(2)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. —
Delirium Tyrosine hydroxylase–deficient dopa-responsive dystonia
1 gene
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1 of 1 corroborated by 2+ sources
TH(2)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. —
Headache Water intoxication
1 gene
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1 of 1 corroborated by 2+ sources
OXT(2)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. —
Cornelia de lange syndrome Wilson-turner syndrome
1 gene
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1 of 1 corroborated by 2+ sources
HDAC8(7)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. Cluster 297 →
Dwarfism Witteveen-kolk syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SIN3A(3)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. —
Lig4 syndrome Omenn syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LIG4(5)
0.083 0.500 1.30e-3 2.06e-3 ✓ sig. —

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