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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
Sacroiliac arthritis Sacroiliac joint synovitis
1 gene
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RELN(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Scapuloperoneal spinal muscular atrophy TRPV4-related bone disorder
1 gene
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1 of 1 corroborated by 2+ sources
TRPV4(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 215 →
Senile systemic amyloidosis Transthyretin amyloid cardiomyopathy
1 gene
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TTR(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 182 →
Senile systemic amyloidosis Wild-type transthyretin-related amyloidosis
1 gene
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TTR(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 182 →
Serrated polyposis sessile serrated polyposis cancer syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RNF43(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth
1 gene
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SETD2(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Achondroplasia severe achondroplasia-developmental delay-acanthosis nigricans syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FGFR3(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 184 →
Camptodactyly, tall stature, and hearing loss syndrome severe achondroplasia-developmental delay-acanthosis nigricans syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FGFR3(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 184 →
Catshl syndrome severe achondroplasia-developmental delay-acanthosis nigricans syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FGFR3(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 184 →
Crouzon syndrome with acanthosis nigricans severe achondroplasia-developmental delay-acanthosis nigricans syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FGFR3(7)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 184 →
Muenke syndrome severe achondroplasia-developmental delay-acanthosis nigricans syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FGFR3(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 184 →
SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder X-linked congenital generalized hypertrichosis
1 gene
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1 of 1 corroborated by 2+ sources
SOX3(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
spastic paraplegia, intellectual disability, nystagmus, and obesity Ventriculomegaly with arthrogryposis
1 gene
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1 of 1 corroborated by 2+ sources
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Splenic neoplasms Woolly hair nevus
1 gene
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1 of 1 corroborated by 2+ sources
HRAS(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 18 →
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Warburg-cinotti syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DDR2(5)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Collagenopathy Stickler syndrome type 1
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
Coxa plana Stickler syndrome type 1
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
Czech dysplasia Stickler syndrome type 1
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
Dysspondyloenchondromatosis Stickler syndrome type 1
1 gene
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1 of 1 corroborated by 2+ sources
COL2A1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
kniest dysplasia Stickler syndrome type 1
1 gene
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COL2A1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
Sweeney-cox syndrome TWIST1-related craniosynostosis
1 gene
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1 of 1 corroborated by 2+ sources
TWIST1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 127 →
T-B+ severe combined immunodeficiency due to gamma chain deficiency X-linked severe combined immunodeficiency
1 gene
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1 of 1 corroborated by 2+ sources
IL2RG(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Telangiectasia macularis eruptiva perstans Testicular seminoma
1 gene
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1 of 1 corroborated by 2+ sources
KIT(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 402 →
Telangiectasia macularis eruptiva perstans Urticaria pigmentosa
1 gene
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1 of 1 corroborated by 2+ sources
KIT(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 402 →
TELO2-related intellectual disability-neurodevelopmental disorder You-hoover-fong syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TELO2(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —

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