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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
kufor-rakeb syndrome Neuronal ceroid lipofuscinosis
1 gene
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1 of 1 corroborated by 2+ sources
ATP13A2(4)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Hyperplasia palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
1 gene
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1 of 1 corroborated by 2+ sources
KDM1A(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Hyperplasia Peters plus syndrome
1 gene
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1 of 1 corroborated by 2+ sources
B3GLCT(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. Cluster 143 →
Pancreatic ductal carcinoma peutz-jeghers syndrome
1 gene
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1 of 1 corroborated by 2+ sources
STK11(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Biliary atresia Phenylketonuria
1 gene
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1 of 1 corroborated by 2+ sources
PAH(4)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Pituitary stalk interruption syndrome PMM2-congenital disorder of glycosylation
1 gene
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1 of 1 corroborated by 2+ sources
PMM2(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Auditory neuropathy progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DIAPH1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to aiolos deficiency Selective iga deficiency disease
1 gene
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1 of 1 corroborated by 2+ sources
IKZF3(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency Neural tube defects, x-linked
1 gene
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1 of 1 corroborated by 2+ sources
MTHFD1(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Congenital isolated acth deficiency Pituitary stalk interruption syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TBX19(4)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Congenital membranous nephropathy Membranous glomerulonephritis
1 gene
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1 of 1 corroborated by 2+ sources
MME(3)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Congenital microcephaly congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ASNS(5)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Congenital posterior urethral valves Seborrheic keratosis
1 gene
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1 of 1 corroborated by 2+ sources
BNC2(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. Cluster 29 →
Biliary atresia Congenitally uncorrected transposition of the great arteries
1 gene
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CFC1(1)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Auditory neuropathy Deafness dystonia syndrome
1 gene
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1 of 1 corroborated by 2+ sources
TIMM8A(3)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. Cluster 26 →
arrhythmogenic right ventricular dysplasia 5 Auditory neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
TMEM43(5)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Arthrogryposis with ectodermal dysplasia Auditory neuropathy
1 gene
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OTOF(1)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Arthrogryposis with ectodermal dysplasia Congenital ear anomaly
1 gene
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OTOF(1)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
atypical hemolytic-uremic syndrome with B factor anomaly Membranous glomerulonephritis
1 gene
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1 of 1 corroborated by 2+ sources
CFB(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
autoimmune lymphoproliferative syndrome type 2B Seborrheic keratosis
1 gene
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1 of 1 corroborated by 2+ sources
CASP8(2)
0.031 1.000 2.01e-3 2.90e-3 ✓ sig. —
Cushing syndrome Ocular hypertension
2 genes
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2 of 2 corroborated by 2+ sources
NR3C1(3), CDH23(2)
0.029 0.095 2.00e-3 2.90e-3 ✓ sig. —
Hereditary chronic pancreatitis Obstructive azoospermia
1 gene
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1 of 1 corroborated by 2+ sources
CFTR(2)
0.083 0.250 2.08e-3 2.97e-3 ✓ sig. —
Chromosomal instability Houge janssens syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PPP2R5C(2)
0.083 0.250 2.08e-3 2.97e-3 ✓ sig. —
Epilepsy with auditory features Familial focal epilepsy with variable foci
1 gene
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1 of 1 corroborated by 2+ sources
DEPDC5(4)
0.083 0.250 2.08e-3 2.97e-3 ✓ sig. —
3-methylglutaconic aciduria Microcytic anemia
1 gene
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1 of 1 corroborated by 2+ sources
CLPB(2)
0.083 0.250 2.08e-3 2.97e-3 ✓ sig. —

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