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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
homocystinuria due to methylene tetrahydrofolate reductase deficiency Uterine disease
1 gene
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1 of 1 corroborated by 2+ sources
MTHFR(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 204 →
Van buchem disease Worth syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LRP5(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 98 →
polycystic liver disease 4 with or without kidney cysts Van buchem disease
1 gene
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1 of 1 corroborated by 2+ sources
LRP5(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 98 →
LRP5-related exudative vitreoretinopathy Van buchem disease
1 gene
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1 of 1 corroborated by 2+ sources
LRP5(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 98 →
Familial hematuria-retinal arteriolar tortuosity-contractures syndrome Vascular leukoencephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
COL4A1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Clapo syndrome Venous malformation
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Cloves syndrome Venous malformation
1 gene
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1 of 1 corroborated by 2+ sources
PIK3CA(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Amyloid polyneuropathy Wild-type transthyretin-related amyloidosis
1 gene
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TTR(1)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 182 →
Wiskott-aldrich syndrome X-linked severe congenital neutropenia
1 gene
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1 of 1 corroborated by 2+ sources
WAS(7)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Wiskott-aldrich syndrome X-linked thrombocytopenia
1 gene
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1 of 1 corroborated by 2+ sources
WAS(7)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
X-linked agammaglobulinemia X-linked agammaglobulinemia with growth hormone deficiency
1 gene
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1 of 1 corroborated by 2+ sources
BTK(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
X-linked agammaglobulinemia with growth hormone deficiency X-linked immune dysregulation with inflammatory bowel disease due to elf4 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
ELF4(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
X-linked agammaglobulinemia with growth hormone deficiency X-linked hypogammaglobulinemia
1 gene
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1 of 1 corroborated by 2+ sources
BTK(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
X-linked chondrodysplasia punctata X-linked dominant chondrodysplasia punctata
1 gene
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1 of 1 corroborated by 2+ sources
EBP(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
X-linked emery-dreifuss muscular dystrophy X-linked scapuloperoneal muscular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
FHL1(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 415 →
X-linked myopathy X-linked scapuloperoneal muscular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
FHL1(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 415 →
X-linked non progressive cerebellar ataxia X-linked progressive cerebellar ataxia
1 gene
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1 of 1 corroborated by 2+ sources
ATP2B3(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Scapuloperoneal myopathy X-linked scapuloperoneal muscular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
FHL1(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
xeroderma pigmentosum group F Xfe progeroid syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ERCC4(6)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Desmoplastic small round cell tumor Drash syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WT1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 35 →
Desmoplastic small round cell tumor wilms tumor 1
1 gene
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1 of 1 corroborated by 2+ sources
WT1(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 35 →
Deuteranomaly red-green color blindness
1 gene
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1 of 1 corroborated by 2+ sources
OPN1MW(3)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 214 →
developmental and epileptic encephalopathy, 50 Hypoplastic anemia
1 gene
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1 of 1 corroborated by 2+ sources
CAD(2)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 168 →
Developmental delay with dysmorphic facies and dental anomalies Intellectual developmental disorder seizures extrapyramidal
1 gene
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1 of 1 corroborated by 2+ sources
SATB1(4)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. —
Developmental delay with language impairment and movement disorder Intellectual developmental disorder language neurodegenerative
1 gene
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1 of 1 corroborated by 2+ sources
NR4A2(5)
0.333 1.000 1.30e-4 3.93e-4 ✓ sig. Cluster 275 →

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