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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
Hermansky-pudlak syndrome hermansky-pudlak syndrome 9
1 gene
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1 of 1 corroborated by 2+ sources
BLOC1S6(6)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 174 →
Hyperinsulinemic hypoglycemia hyperinsulinemic hypoglycemia with polycystic kidney disease
1 gene
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1 of 1 corroborated by 2+ sources
PMM2(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Hyperinsulinemic hypoglycemia Hyperinsulinism-hyperammonemia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GLUD1(7)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 36 →
Hyperphosphatasia with intellectual disability syndrome Zunich neuroectodermal syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PIGL(3)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Hyperphosphatasia with intellectual disability syndrome hyperphosphatasia with intellectual disability syndrome 4
1 gene
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1 of 1 corroborated by 2+ sources
PGAP3(7)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 337 →
Hyperphosphatasia with intellectual disability syndrome hyperphosphatasia with intellectual disability syndrome 1
1 gene
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1 of 1 corroborated by 2+ sources
PIGV(7)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 337 →
Hyperphosphatasia with intellectual disability syndrome hyperphosphatasia with intellectual disability syndrome 6
1 gene
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1 of 1 corroborated by 2+ sources
PIGY(6)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 337 →
Hereditary hemolytic anemia Hyperthermia
1 gene
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1 of 1 corroborated by 2+ sources
GPX1(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Hypertrichosis X-linked congenital generalized hypertrichosis
1 gene
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1 of 1 corroborated by 2+ sources
SOX3(3)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Hypertrichosis SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder
1 gene
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1 of 1 corroborated by 2+ sources
SOX3(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Acromegaloid facial appearance syndrome Hypertrichosis
1 gene
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1 of 1 corroborated by 2+ sources
ABCC9(3)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 234 →
Arthrogryposis Hypo-akinesia disorder of prenatal onset
1 gene
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1 of 1 corroborated by 2+ sources
CHRNG(4)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 202 →
Idiopathic basal ganglia calcification Myeloproliferative disease, unclassifiable
1 gene
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1 of 1 corroborated by 2+ sources
PDGFRB(6)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Idiopathic basal ganglia calcification IFIH1-related type 1 interferonopathy
1 gene
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1 of 1 corroborated by 2+ sources
IFIH1(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Combined psap deficiency Retinitis pigmentosa-deafness syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PSAP(4)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 118 →
17,20-lyase deficiency Congenital adrenal hyperplasia
1 gene
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1 of 1 corroborated by 2+ sources
CYP17A1(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 346 →
Congenital adrenal hyperplasia Steroid 17-alpha-monooxygenase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CYP17A1(3)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. Cluster 346 →
Congenital adrenal hyperplasia Dosage-sensitive sex reversal
1 gene
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1 of 1 corroborated by 2+ sources
NR0B1(3)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Congenital adrenal hyperplasia X-linked adrenal hypoplasia congenita
1 gene
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1 of 1 corroborated by 2+ sources
NR0B1(4)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Congenital adrenal hyperplasia Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CYP21A2(5)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Congenital cataract anterior segment dysgenesis syndrome Posterior subcapsular cataract
1 gene
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1 of 1 corroborated by 2+ sources
PITX3(2)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Congenital factor vii deficiency Hematuria
1 gene
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1 of 1 corroborated by 2+ sources
F7(5)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Congenital fiber type disproportion myopathy Congenital generalized hypercontractile muscle stiffness syndrome
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. —
Congenital hypoplasia of clavicle Posterior subcapsular cataract
1 gene
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1 of 1 corroborated by 2+ sources
LEMD2(3)
0.083 1.000 7.14e-4 1.34e-3 ✓ sig. —
Congenital adrenal hyperplasia Congenital lipoid adrenal hyperplasia
1 gene
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1 of 1 corroborated by 2+ sources
STAR(4)
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.