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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
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 →
Cerebrooculofacioskeletal syndrome xeroderma pigmentosum group G
1 gene
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1 of 1 corroborated by 2+ sources
ERCC5(7)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 86 →
PRPH2-related retinopathy Retinitis punctata albescens
1 gene
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1 of 1 corroborated by 2+ sources
PRPH2(4)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 45 →
Retinoblastoma Woolly hair
1 gene
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1 of 1 corroborated by 2+ sources
RB1(5)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Congenital retrognathism Rhizomelic skeletal dysplasia with or without pelger-huet anomaly
1 gene
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1 of 1 corroborated by 2+ sources
LBR(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 280 →
Retinitis punctata albescens RHO-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RHO(3)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Right bundle branch block Right ventricular hypertrophy
1 gene
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BMPR2(1)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 339 →
Right cardiac ventricular dilatation Right ventricular hypertrophy
1 gene
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BMPR2(1)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 339 →
Palmoplantar keratoderma with congenital alopecia Right ventricular hypertrophy
1 gene
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1 of 1 corroborated by 2+ sources
GJA1(4)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Retinitis punctata albescens RLBP1-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RLBP1(4)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction Visceral neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
RRM2B(4)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. —
Benign infantile epilepsy self-limited familial neonatal epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
KCNQ3(2)
0.143 1.000 3.90e-4 8.67e-4 ✓ sig. Cluster 165 →

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