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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
Cohen syndrome Pituitary stalk interruption syndrome
1 gene
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1 of 1 corroborated by 2+ sources
VPS13B(7)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. Cluster 54 →
arrhythmogenic right ventricular dysplasia 5 Auditory neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
TMEM43(5)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Arthrogryposis with ectodermal dysplasia Auditory neuropathy
1 gene
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OTOF(1)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Arthrogryposis with ectodermal dysplasia Congenital ear anomaly
1 gene
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OTOF(1)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
atypical hemolytic-uremic syndrome with B factor anomaly Membranous glomerulonephritis
1 gene
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1 of 1 corroborated by 2+ sources
CFB(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
autoimmune lymphoproliferative syndrome type 2B Seborrheic keratosis
1 gene
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1 of 1 corroborated by 2+ sources
CASP8(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Biliary atresia Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidney syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GLIS3(3)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
C9 deficiency Dermatomyositis
1 gene
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1 of 1 corroborated by 2+ sources
C9(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Carboxypeptidase n deficiency Dermatomyositis
1 gene
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1 of 1 corroborated by 2+ sources
CPN1(4)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Caspase 8 deficiency Seborrheic keratosis
1 gene
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1 of 1 corroborated by 2+ sources
CASP8(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Acid sphingomyelinase deficiency Neuronal ceroid lipofuscinosis
1 gene
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1 of 1 corroborated by 2+ sources
SMPD1(3)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Alexander disease Neuronal ceroid lipofuscinosis
1 gene
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1 of 1 corroborated by 2+ sources
GFAP(4)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
amyotrophic lateral sclerosis type 6 Distal spinal muscular atrophy
1 gene
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1 of 1 corroborated by 2+ sources
FUS(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
amyotrophic lateral sclerosis, susceptibility to, 25 Auditory neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
KIF5A(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Anaphylatoxin inactivator deficiency Dermatomyositis
1 gene
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1 of 1 corroborated by 2+ sources
CPN1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
anterior segment dysgenesis 8 Selective iga deficiency disease
1 gene
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1 of 1 corroborated by 2+ sources
CPAMD8(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Biliary atresia RP1-related dominant retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RP1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Biliary atresia RP1-related recessive retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RP1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Congenital microcephaly schimke immuno-osseous dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Auditory neuropathy Sensorineural hearing loss thrombocytopenia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DIAPH1(3)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Pharyngeal disorder severe combined immunodeficiency due to CARMIL2 deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CARMIL2(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Pituitary stalk interruption syndrome SOX11-related complex neurodevelopmental disorder with or without congenital anomalies
1 gene
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1 of 1 corroborated by 2+ sources
SOX11(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Pharyngeal disorder t-cell immunodeficiency, congenital alopecia, and nail dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
FOXN1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to aiolos deficiency Selective iga deficiency disease
1 gene
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1 of 1 corroborated by 2+ sources
IKZF3(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency Neural tube defects, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
MTHFD1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —

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