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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
Peptic esophagitis Vitamin d dependent rickets
1 gene
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1 of 1 corroborated by 2+ sources
VDR(5)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 396 →
Klippel-trenaunay syndrome Waardenburg anophthalmia syndrome
1 gene
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SMOC1(1)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Witkop syndrome Wolf-hirschhorn syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MSX1(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 159 →
46,xy sex reversal X-linked adrenal hypoplasia congenita
1 gene
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1 of 1 corroborated by 2+ sources
NR0B1(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Thyroid agenesis X-linked central congenital hypothyroidism with late-onset testicular enlargement
1 gene
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1 of 1 corroborated by 2+ sources
IGSF1(4)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 88 →
Hallervorden spatz syndrome X-linked cerebral cerebellar coloboma syndrome
1 gene
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WDR45(1)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Hyper-igm immunodeficiency syndrome X-linked hyper-igm syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CD40LG(6)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 131 →
Hallervorden spatz syndrome X-linked optic atrophy
1 gene
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WDR45(1)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Congenital muscular dystrophy due to dystroglycanopathy myopathy caused by variation in GMPPB
1 gene
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1 of 1 corroborated by 2+ sources
GMPPB(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 14 →
Congenital muscular dystrophy due to dystroglycanopathy muscular dystrophy-dystroglycanopathy
1 gene
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1 of 1 corroborated by 2+ sources
LARGE1(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 14 →
Congenital cardiovascular anomaly congenital myasthenic syndrome 10
1 gene
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1 of 1 corroborated by 2+ sources
DOK7(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Congenital idiopathic intestinal pseudoobstruction Congenital omphalocele
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Congenital omphalocele Otopalatodigital spectrum disorder
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Congenital omphalocele Terminal osseous dysplasia with pigmentary defects
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(6)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Congenital omphalocele X-linked ehlers-danlos syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FLNA(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Congenital septal defect of heart methylcobalamin deficiency type cblE
1 gene
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1 of 1 corroborated by 2+ sources
MTRR(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Congenital septal defect of heart Interrupted aortic arch
1 gene
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NKX2-5(1)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 161 →
Congenital septal defect of heart NKX2.5-related congenital, conduction and myopathic heart disease
1 gene
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1 of 1 corroborated by 2+ sources
NKX2-5(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 161 →
Congenital septal defect of heart Right bundle branch block
1 gene
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BMPR2(1)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Congenital sialidosis Mucolipidosis
1 gene
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1 of 1 corroborated by 2+ sources
NEU1(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Congenital venous anomaly Rupture, spontaneous
1 gene
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1 of 1 corroborated by 2+ sources
COL5A1(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Continuous spike and wave during sleep syndrome Familial temporal lobe epilepsy
1 gene
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1 of 1 corroborated by 2+ sources
GRIN2A(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Coproporphyria Porphyria cutanea tarda
1 gene
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1 of 1 corroborated by 2+ sources
CPOX(2)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
craniofacial dysplasia - osteopenia syndrome Frontonasal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
IRX5(5)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. —
Creatine phosphokinase elevation Tubular aggregate myopathy
1 gene
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1 of 1 corroborated by 2+ sources
CAV3(3)
0.125 1.000 4.55e-4 9.73e-4 ✓ sig. Cluster 217 →

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