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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
Hepatic ductular hypoplasia Middle aortic syndrome
1 gene
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JAG1(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Hepatoblastoma silver-russell syndrome 3
1 gene
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1 of 1 corroborated by 2+ sources
IGF2(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Hepatoblastoma Intellectual developmental disorder dysmorphic ocular microcephaly peripheral
1 gene
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1 of 1 corroborated by 2+ sources
CTNNB1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 104 →
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy Hepatoblastoma
1 gene
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1 of 1 corroborated by 2+ sources
CTNNB1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 104 →
Hereditary arginine vasopressin deficiency Neurogenic diabetes insipidus
1 gene
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1 of 1 corroborated by 2+ sources
AVP(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Hereditary arginine vasopressin deficiency Nephrogenic diabetes insipidus
1 gene
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1 of 1 corroborated by 2+ sources
AVP(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Hereditary continuous muscle fiber activity Paroxysmal dystonic choreoathetosis
1 gene
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KCNA1(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 58 →
Hereditary continuous muscle fiber activity Paroxysmal nonkinesigenic dyskinesia
1 gene
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KCNA1(1)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 58 →
Congenital pain insensitivity hereditary sensory and autonomic neuropathy type 7
1 gene
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1 of 1 corroborated by 2+ sources
SCN11A(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 164 →
hereditary sensory and autonomic neuropathy type 7 Paroxysmal extreme pain disorder
1 gene
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1 of 1 corroborated by 2+ sources
SCN11A(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 164 →
hereditary spastic paraplegia 8 Ritscher-schinzler syndrome
1 gene
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1 of 1 corroborated by 2+ sources
WASHC5(6)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 188 →
Homocystinuria with megaloblastic anemia methylcobalamin deficiency type cblE
1 gene
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1 of 1 corroborated by 2+ sources
MTRR(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 121 →
Homocystinuria with megaloblastic anemia methylcobalamin deficiency type cblG
1 gene
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1 of 1 corroborated by 2+ sources
MTR(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 121 →
Houge janssens syndrome Intellectual developmental disorder growth behavioral
1 gene
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1 of 1 corroborated by 2+ sources
PPP2R5D(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Houge janssens syndrome Intellectual developmental disorder macrocephaly hypotonia behavioral
1 gene
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1 of 1 corroborated by 2+ sources
PPP2R5D(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Hyper-igd syndrome Hyper-immunoglobulin d syndrome
1 gene
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1 of 1 corroborated by 2+ sources
MVK(4)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 316 →
Hyper-immunoglobulin d syndrome methylmalonic aciduria, cblb type
1 gene
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1 of 1 corroborated by 2+ sources
MMAB(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 316 →
Hyper-immunoglobulin m syndrome X-linked hyper-igm syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CD40LG(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 131 →
Hyperexplexia hereditary sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
1 gene
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1 of 1 corroborated by 2+ sources
GPHN(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 379 →
Hypergammaglobulinemia Visceral amyloidosis
1 gene
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1 of 1 corroborated by 2+ sources
B2M(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 228 →
hyperinsulinism due to glucokinase deficiency Intestinal disaccharide malabsorption
1 gene
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1 of 1 corroborated by 2+ sources
GCK(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. —
Hypochromic anemia Microcytic anemia
1 gene
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1 of 1 corroborated by 2+ sources
SLC11A2(5)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 227 →
hypogonadotropic hypogonadism 1 with or without anosmia Micropenis
1 gene
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1 of 1 corroborated by 2+ sources
ANOS1(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 103 →
hypoproteinemia, hypercatabolic Visceral amyloidosis
1 gene
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1 of 1 corroborated by 2+ sources
B2M(2)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 228 →
Arginine-glycine amidinotransferase deficiency De toni-debre-fanconi syndrome
1 gene
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1 of 1 corroborated by 2+ sources
GATM(3)
0.200 1.000 2.60e-4 6.51e-4 ✓ sig. Cluster 99 →

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