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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
Amblyopia Night blindness, congenital stationary
2 genes
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1 of 2 corroborated by 2+ sources
CACNA1F(3), USH2A(1)
0.041 0.080 7.42e-4 1.39e-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 →
Deglutition disorder nemaline myopathy 2
1 gene
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1 of 1 corroborated by 2+ sources
NEB(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 51 →
Cardiovascular abnormalities nephronophthisis 16
1 gene
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1 of 1 corroborated by 2+ sources
ANKS6(3)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 136 →
neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline Post-operative acute kidney injury
1 gene
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1 of 1 corroborated by 2+ sources
CAPRIN1(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder Post-operative acute kidney injury
1 gene
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1 of 1 corroborated by 2+ sources
CAPRIN1(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Ductal carcinoma neurodevelopmental disorder with microcephaly and dysmorphic facies
1 gene
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1 of 1 corroborated by 2+ sources
SPOP(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Ductal carcinoma neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
1 gene
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1 of 1 corroborated by 2+ sources
SPOP(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
neuronopathy, distal hereditary motor, type 7A Presynaptic congenital myasthenic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SLC5A7(4)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 34 →
nijmegen breakage syndrome Stomatitis
1 gene
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1 of 1 corroborated by 2+ sources
NBN(3)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Hyperinsulinemic hypoglycemia obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
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. —
Melanocytic nevus oculocutaneous albinism type 1
1 gene
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1 of 1 corroborated by 2+ sources
TYR(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Copper overload cirrhosis Osteofibrous dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
MET(5)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Congenital adrenal hyperplasia P450 oxidoreductase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
POR(5)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —

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