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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
Autosomal dominant sensorineural deafness Hearing loss with hypertrophic cardiomyopathy
1 gene
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MYO6(1)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 192 →
Autosomal dominant sensorineural deafness Peripheral neuropathy with sensorineural hearing impairment syndrome
1 gene
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GJB3(1)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Autosomal dominant sensorineural deafness Sebastian syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MYH9(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
autosomal recessive cutis laxa type 2D Cyclin-dependent kinase-like 5 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
ATP6V1A(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
BAP1-related tumor predisposition syndrome Tumor predisposition syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BAP1(4)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 389 →
Benign infantile epilepsy neonatal-onset developmental and epileptic encephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
KCNQ2(3)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 165 →
Benign paroxysmal torticollis of infancy Cyclin-dependent kinase-like 5 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CACNA1A(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 61 →
Berardinelli-seip congenital lipodystrophy Carotid intima-media thickness
1 gene
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PPARG(1)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 71 →
Bethlem myopathy dystonia 27
1 gene
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1 of 1 corroborated by 2+ sources
COL6A3(7)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 393 →
Bilateral cleft lip Cleft lip with or without cleft palate
1 gene
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PLEKHA5(1)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 312 →
Thrombocythemia with distal limb defects Thrombocytosis
1 gene
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1 of 1 corroborated by 2+ sources
THPO(4)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 53 →
Thrombocythemia Thrombocythemia with distal limb defects
1 gene
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1 of 1 corroborated by 2+ sources
THPO(5)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 53 →
Aortic arch syndrome Thrombophlebitis
1 gene
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HLA-B(1)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Cervical intraepithelial neoplasia Thrombophlebitis
1 gene
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1 of 1 corroborated by 2+ sources
HLA-B(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
fanconi anemia complementation group d1 Tumor predisposition syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BRCA2(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
BRCA2-related cancer predisposition Tumor predisposition syndrome
1 gene
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1 of 1 corroborated by 2+ sources
BRCA2(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Palmoplantar keratoderma with congenital alopecia Vascular remodeling
1 gene
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1 of 1 corroborated by 2+ sources
GJA1(5)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Wolfram syndrome Wolfram-like syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WFS1(7)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Congenital thyroid atrophy X-linked central congenital hypothyroidism with late-onset testicular enlargement
1 gene
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1 of 1 corroborated by 2+ sources
IGSF1(4)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 88 →
Congenital hypothyroidism without goiter X-linked central congenital hypothyroidism with late-onset testicular enlargement
1 gene
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1 of 1 corroborated by 2+ sources
IGSF1(4)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 88 →
46,xx ovotesticular disorder of sex development X-linked congenital generalized hypertrichosis
1 gene
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1 of 1 corroborated by 2+ sources
SOX3(4)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Cerebral cavernous malformation X-linked dominant hypophosphatemic rickets
1 gene
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1 of 1 corroborated by 2+ sources
PHEX(3)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Cerebral cavernous malformation X-linked hypophosphatemia
1 gene
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1 of 1 corroborated by 2+ sources
PHEX(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Cyclin-dependent kinase-like 5 deficiency X-linked retinoschisis
1 gene
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1 of 1 corroborated by 2+ sources
RS1(4)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Cerebrooculofacioskeletal syndrome xeroderma pigmentosum group D
1 gene
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1 of 1 corroborated by 2+ sources
ERCC2(7)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 86 →

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