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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
Carey-fineman-ziter syndrome Major salivary gland carcinoma
1 gene
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1 of 1 corroborated by 2+ sources
MYMK(6)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Carotid atherosclerosis Rhabdoid tumor predisposition syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SMARCA4(6)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 120 →
Carotid atherosclerosis Thoracic neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
SMARCA4(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 120 →
Hepatic adenoma Idiopathic diabetes
1 gene
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1 of 1 corroborated by 2+ sources
HNF1A(4)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Cardiac valvular dysplasia Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
1 gene
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1 of 1 corroborated by 2+ sources
MTHFD1(5)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Congenital generalized lipodystrophy Isolated systolic hypertension
1 gene
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1 of 1 corroborated by 2+ sources
BSCL2(4)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Congenital hearing disorder Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome
1 gene
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COL4A3(1)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Congenital hearing disorder Jervell and lange-nielsen syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KCNE1(6)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Congenital isolated growth hormone deficiency Pituitary neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
GH1(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 82 →
Congenital keratoglobus Hydrophthalmos
1 gene
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LTBP2(1)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Congenital leukocyte adherence deficiency Skin ulcer
1 gene
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1 of 1 corroborated by 2+ sources
ITGB2(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Congenital mesoblastic nephroma Hypereosinophilic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ETV6(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Idiopathic diabetes Neonatal diabetes mellitus with congenital hypothyroidism
1 gene
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1 of 1 corroborated by 2+ sources
IL2RA(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
17q12 microdeletion syndrome Ovarian mucinous adenocarcinoma
1 gene
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1 of 1 corroborated by 2+ sources
HNF1B(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 23 →
17 alpha-hydroxyprogesterone aldolase deficiency Disorders of sex development
1 gene
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1 of 1 corroborated by 2+ sources
AKR1C2(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 344 →
17p13.3 microduplication syndrome Clear cell sarcoma of kidney
1 gene
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1 of 1 corroborated by 2+ sources
YWHAE(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 223 →
Acid-base disorder Laryngeal neoplasms
1 gene
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1 of 1 corroborated by 2+ sources
ADH1B(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Acroosteolysis Hypereosinophilic syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PDGFRB(3)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Anal polyp Dihydropyrimidine metabolism disorder
1 gene
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1 of 1 corroborated by 2+ sources
DPYD(2)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 349 →
Anaptoglobinemia Hemolysis
1 gene
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1 of 1 corroborated by 2+ sources
HP(4)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Aortic valve stenosis Major salivary gland carcinoma
1 gene
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HACE1(1)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. —
Cerebellar ataxia, intellectual disability, and dysequilibrium Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts
1 gene
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1 of 1 corroborated by 2+ sources
ATP8A2(3)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 317 →
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts Dysequilibrium syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ATP8A2(4)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 317 →
Cerebellar ataxia, neuropathy, and vestibular areflexia Hereditary sensory and motor neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
RFC1(4)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 190 →
Cerebellar dysfunction with variable cognitive and behavioral abnormalities Cervical dysplasia
1 gene
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POU4F1(1)
0.125 0.500 7.79e-4 1.41e-3 ✓ sig. Cluster 204 →

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