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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 27 Ullrich congenital muscular dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
COL6A3(7)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 393 →
Dystonia, dopa-responsive, with or without hyperphenylalaninemia Ventricular outflow obstruction
1 gene
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1 of 1 corroborated by 2+ sources
INS(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 112 →
Dystonia, dopa-responsive, with or without hyperphenylalaninemia GTP cyclohydrolase I deficiency
1 gene
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1 of 1 corroborated by 2+ sources
GCH1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 112 →
East syndrome Paroxysmal dystonic choreoathetosis
1 gene
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1 of 1 corroborated by 2+ sources
KCNJ10(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 58 →
Encephalocele joubert syndrome 17
1 gene
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1 of 1 corroborated by 2+ sources
CPLANE1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 70 →
Endocrine neoplasms leukodystrophy, hypomyelinating, 25
1 gene
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1 of 1 corroborated by 2+ sources
TMEM163(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Epidermolysis bullosa simplex Weber-cockayne syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KRT14(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 269 →
Epilepsy with auditory features Sacroiliac arthritis
1 gene
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1 of 1 corroborated by 2+ sources
RELN(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Myotonia congenita Smith-lemli-opitz syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CLCN1(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Benign neonatal epilepsy neonatal encephalopathy with non-epileptic myoclonus
1 gene
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1 of 1 corroborated by 2+ sources
KCNQ2(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 165 →
Bile duct calculus Neonatal hyperbilirubinemia
1 gene
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1 of 1 corroborated by 2+ sources
UGT1A1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Nephrotic syndrome, idiopathic, steroid-resistant nephrotic syndrome, type 12
1 gene
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1 of 1 corroborated by 2+ sources
NUP93(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Nephrotic syndrome, idiopathic, steroid-resistant nephrotic syndrome, type 13
1 gene
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1 of 1 corroborated by 2+ sources
NUP205(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Microvascular angina Neural tube defects, folate-sensitive
1 gene
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1 of 1 corroborated by 2+ sources
MTHFR(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
homocystinuria due to methylene tetrahydrofolate reductase deficiency Neural tube defects, folate-sensitive
1 gene
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1 of 1 corroborated by 2+ sources
MTHFR(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Bestrophinopathy neurodegeneration with brain iron accumulation 9
1 gene
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1 of 1 corroborated by 2+ sources
FTH1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Neurofibromatosis Watson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NF1(6)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 77 →
17q11.2 microduplication syndrome Neurofibromatosis-noonan syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NF1(6)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 77 →
Cervical lymphadenopathy Neurofibromatosis-noonan syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NF1(6)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 77 →
Neurofibromatosis-noonan syndrome Watson syndrome
1 gene
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1 of 1 corroborated by 2+ sources
NF1(6)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 77 →
Congenital hypothyroidism due to absence of thyroid gland 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)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
NMNAT1-related retinopathy Wallerian degeneration
1 gene
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1 of 1 corroborated by 2+ sources
NMNAT1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
normophosphatemic familial tumoral calcinosis Tumoral calcinosis
1 gene
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1 of 1 corroborated by 2+ sources
SAMD9(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Mandibuloacral dysplasia obsolete lethal restrictive dermopathy
1 gene
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1 of 1 corroborated by 2+ sources
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 65 →
Ocular dysgenesis Wagr syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ELP4(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 35 →

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