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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
Dystonia musculorum deformans GTP cyclohydrolase I deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GCH1(2)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. —
Early onset progressive leukoencephalopathy-central nervous system calcification-hearing loss-visual impairment syndrome Optic neuropathy
1 gene
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KARS1(1)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. —
Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome Optic neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
KARS1(2)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. —
Congenital arteriovenous malformation EPHB4-associated vascular malformation spectrum
1 gene
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1 of 1 corroborated by 2+ sources
EPHB4(2)
0.100 1.000 5.84e-4 1.16e-3 ✓ sig. —
Bryant-li-bhoj neurodevelopmental syndrome Global developmental delay
2 genes
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2 of 2 corroborated by 2+ sources
H3-3B(4), H3-3A(4)
0.005 1.000 5.76e-4 1.16e-3 ✓ sig. —
Conduct disorder Genetic predisposition to disease
3 genes
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3 of 3 corroborated by 2+ sources
ERCC4(2), ADH1B(2), ADH1C(2)
0.031 0.063 5.64e-4 1.15e-3 ✓ sig. —
Cervical polyp Eczema
2 genes
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IRAK1BP1(1), MEI4(1)
0.005 1.000 5.60e-4 1.14e-3 ✓ sig. —
Esophageal atresia Toxic nodular goiter
2 genes
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2 of 2 corroborated by 2+ sources
TERT(2), INSR(2)
0.042 0.118 5.58e-4 1.14e-3 ✓ sig. —
Metabolic bone disorder Osteonecrosis
2 genes
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2 of 2 corroborated by 2+ sources
KCNMA1(2), MMP2(2)
0.038 0.143 5.58e-4 1.14e-3 ✓ sig. —
Schizoaffective disorder Seasonal affective disorder
2 genes
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NPAS2(1), NPY(1)
0.041 0.125 5.57e-4 1.14e-3 ✓ sig. —
Corneal astigmatism Esophageal adenocarcinoma
3 genes
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KHDRBS2(1), PLCL1(1), FMNL2(1)
0.029 0.086 5.53e-4 1.13e-3 ✓ sig. —
Cushing's disease Ocular hypertension
2 genes
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2 of 2 corroborated by 2+ sources
NR3C1(2), CDH23(2)
0.034 0.182 5.36e-4 1.09e-3 ✓ sig. —
Blepharoptosis Hereditary parkinson disease
2 genes
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1 of 2 corroborated by 2+ sources
LRRK2(4), ND1(1)
0.043 0.105 5.35e-4 1.09e-3 ✓ sig. —
Bradyopsia Retinitis pigmentosa
2 genes
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2 of 2 corroborated by 2+ sources
RGS9(4), RGS9BP(2)
0.006 1.000 5.33e-4 1.09e-3 ✓ sig. —
Cone rod dystrophy and hearing loss Retinitis pigmentosa
2 genes
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2 of 2 corroborated by 2+ sources
CEP78(5), CEP250(6)
0.006 1.000 5.33e-4 1.09e-3 ✓ sig. —
Testicular carcinoma Transient neonatal diabetes mellitus
2 genes
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2 of 2 corroborated by 2+ sources
HNF1B(3), GATA4(3)
0.029 0.222 5.28e-4 1.08e-3 ✓ sig. —
Testicular germ cell tumor Transient neonatal diabetes mellitus
2 genes
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2 of 2 corroborated by 2+ sources
HNF1B(3), GATA4(3)
0.029 0.222 5.28e-4 1.08e-3 ✓ sig. —
Dystonia, dopa-responsive, with or without hyperphenylalaninemia Tyrosine hydroxylase–deficient dopa-responsive dystonia
1 gene
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1 of 1 corroborated by 2+ sources
TSPOAP1(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
17q12 microdeletion syndrome Uterine cancer
1 gene
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1 of 1 corroborated by 2+ sources
HNF1B(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 23 →
Renovascular hypertension Ventricular ectopy
1 gene
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1 of 1 corroborated by 2+ sources
NOS3(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Anodontia Verloes-bourguignon syndrome
1 gene
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1 of 1 corroborated by 2+ sources
LTBP3(2)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Very long chain acyl-coa dehydrogenase deficiency Vulto-van silfhout-de vries syndrome
1 gene
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DLG4(1)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 60 →
Doyne honeycomb retinal dystrophy Visual system disorder
1 gene
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1 of 1 corroborated by 2+ sources
EFEMP1(7)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Pancreatic cyst Von hippel-lindau syndrome
1 gene
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1 of 1 corroborated by 2+ sources
VHL(7)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. —
Vulto-van silfhout-de vries syndrome Yorifuji okuno syndrome
1 gene
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DLG4(1)
0.167 0.500 5.19e-4 1.06e-3 ✓ sig. Cluster 60 →

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