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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
Congenital fiber type disproportion myopathy TPM2-related myopathy
1 gene
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1 of 1 corroborated by 2+ sources
TPM2(4)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Congenital fiber type disproportion myopathy TPM3-related myopathy
1 gene
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1 of 1 corroborated by 2+ sources
TPM3(4)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Macrothrombocytopenia TPM4-related platelet disorder
1 gene
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1 of 1 corroborated by 2+ sources
TPM4(3)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 33 →
Trichorrhexis nodosa syndrome Trichothiodystrophy
1 gene
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1 of 1 corroborated by 2+ sources
MPLKIP(6)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 86 →
Hyperinsulinemic hypoglycemia Type a insulin resistance syndrome
1 gene
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1 of 1 corroborated by 2+ sources
INSR(4)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Cardiovascular abnormalities Urinary retention
1 gene
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1 of 1 corroborated by 2+ sources
EDN1(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Retinitis pigmentosa-deafness syndrome Usher syndrome type 2D
1 gene
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1 of 1 corroborated by 2+ sources
WHRN(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Retinitis pigmentosa-deafness syndrome Usher syndrome type 3
1 gene
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1 of 1 corroborated by 2+ sources
CLRN1(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Vitamin b12 deficiency Vitamin b12-unresponsive methylmalonic acidemia
1 gene
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1 of 1 corroborated by 2+ sources
FUT2(3)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 106 →
Posterior subcapsular cataract Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LEMD2(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Trichothiodystrophy xeroderma pigmentosum group B
1 gene
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1 of 1 corroborated by 2+ sources
ERCC3(8)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 86 →
Trichothiodystrophy xeroderma pigmentosum group D
1 gene
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1 of 1 corroborated by 2+ sources
ERCC2(6)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 86 →
Congenital fiber type disproportion myopathy Zebra body myopathy
1 gene
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1 of 1 corroborated by 2+ sources
ACTA1(3)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
20p12.3 microdeletion syndrome Transposition of the great arteries
1 gene
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1 of 1 corroborated by 2+ sources
BMP2(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
22q11 deletion syndrome Cardiovascular abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
FGF8(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
2q37 microdeletion syndrome Ataxia telangiectasia
1 gene
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HDAC4(1)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
3-hydroxyacyl-coa dehydrogenase deficiency Hyperinsulinemic hypoglycemia
1 gene
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1 of 1 corroborated by 2+ sources
HADH(6)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Agnathia-otocephaly Demyelinating diseases
1 gene
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1 of 1 corroborated by 2+ sources
PRRX1(3)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Alpha-actinopathy Congenital fiber type disproportion myopathy
1 gene
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1 of 1 corroborated by 2+ sources
ACTA1(5)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Amish brittle hair brain syndrome Trichothiodystrophy
1 gene
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1 of 1 corroborated by 2+ sources
RNF113A(6)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 86 →
amyotrophic lateral sclerosis type 22 Macrothrombocytopenia
1 gene
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1 of 1 corroborated by 2+ sources
TUBA4A(3)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Congenital fiber type disproportion myopathy myopathy, centronuclear, 6, with fiber-type disproportion
1 gene
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1 of 1 corroborated by 2+ sources
MAP3K20(4)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Hematuria nail-patella syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LMX1B(3)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Infantile spasms nail-patella syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LMX1B(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Deglutition disorder Nebulin-related myopathy
1 gene
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1 of 1 corroborated by 2+ sources
NEB(3)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 51 →

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