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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
46,xx sex reversal NR5A1-related sex development disorder
1 gene
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1 of 1 corroborated by 2+ sources
NR5A1(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 38 →
Ocular albinism Usher syndrome type 2D
1 gene
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1 of 1 corroborated by 2+ sources
WHRN(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 84 →
oculocutaneous albinism type 1 Retinoschisis
1 gene
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1 of 1 corroborated by 2+ sources
TYR(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
OFD1-related ciliopathy Simpson-golabi-behmel syndrome
1 gene
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1 of 1 corroborated by 2+ sources
OFD1(6)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Commissural facial cleft Opitz g/bbb syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SPECC1L(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 203 →
noonan syndrome with multiple lentigines Osteochondroma
1 gene
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1 of 1 corroborated by 2+ sources
PTPN11(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 42 →
Aortic rupture Osteolysis, hereditary multicentric
1 gene
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1 of 1 corroborated by 2+ sources
MMP2(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Growth hormone-secreting pituitary adenoma Osteoma cutis
1 gene
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1 of 1 corroborated by 2+ sources
GNAS(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Osteopoikilosis Tietz syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LEMD3(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 175 →
Oculopalatosekeletal syndrome Otodental dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
FGF3(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Magnesium metabolism disorder renal hypomagnesemia 3
1 gene
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1 of 1 corroborated by 2+ sources
CLDN16(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 341 →
Hyperuricemic nephropathy renal tubular dysgenesis of genetic origin
1 gene
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1 of 1 corroborated by 2+ sources
REN(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
GUCY2D-related dominant retinopathy Retinal cone dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
GUCY2D(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 45 →
GUCY2D-related recessive retinopathy Retinal cone dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
GUCY2D(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 45 →
Chilblain lupus erythematosus retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
1 gene
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1 of 1 corroborated by 2+ sources
TREX1(6)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 150 →
Retinoschisis Temperature-sensitive oculocutaneous albinism
1 gene
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1 of 1 corroborated by 2+ sources
TYR(3)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Adrenocortical carcinoma Sapho syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TP53(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 3 →
Choroid plexus carcinoma Sapho syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TP53(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 3 →
Choroid plexus papilloma Sapho syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TP53(4)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 3 →
Refractory anemia Sapho syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TNF(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. —
Ambiguous genitalia Schaaf-yang syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MAGEL2(5)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 35 →
Schilder disease Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
1 gene
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1 of 1 corroborated by 2+ sources
POLG(6)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 97 →
Preaxial polydactyly with upper back hypertrichosis Schizencephaly
1 gene
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1 of 1 corroborated by 2+ sources
SHH(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 232 →
Schizencephaly Skeletal system disorder
1 gene
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SHH(1)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 232 →
holoprosencephaly 3 Schizencephaly
1 gene
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1 of 1 corroborated by 2+ sources
SHH(2)
0.167 1.000 3.25e-4 7.71e-4 ✓ sig. Cluster 232 →

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