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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
Neutropenia Specific granule deficiency
1 gene
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1 of 1 corroborated by 2+ sources
SMARCD2(5)
0.017 0.500 7.39e-3 8.70e-3 ✓ sig. —
Bloom syndrome Osteosarcoma
1 gene
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1 of 1 corroborated by 2+ sources
BLM(8)
0.017 0.500 7.39e-3 8.70e-3 ✓ sig. —
Dry eye syndrome Focal facial dermal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
TWIST2(6)
0.017 0.500 7.39e-3 8.70e-3 ✓ sig. —
Pancreatic trypsinogen deficiency Pancreatitis
1 gene
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1 of 1 corroborated by 2+ sources
PRSS1(4)
0.017 0.500 7.39e-3 8.70e-3 ✓ sig. —
Cerebellar ataxia, neuropathy, and vestibular areflexia Osteosarcoma
1 gene
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1 of 1 corroborated by 2+ sources
RFC1(4)
0.017 0.500 7.39e-3 8.70e-3 ✓ sig. —
Cayman type cerebellar ataxia Cerebellar ataxia
1 gene
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1 of 1 corroborated by 2+ sources
ATCAY(6)
0.009 1.000 7.40e-3 8.70e-3 ✓ sig. Cluster 79 →
Cerebellar ataxia Cervical dystonia
1 gene
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1 of 1 corroborated by 2+ sources
CIZ1(2)
0.009 1.000 7.40e-3 8.70e-3 ✓ sig. —
Chromosome 15q deletion syndrome Tetralogy of fallot
1 gene
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1 of 1 corroborated by 2+ sources
MCTP2(3)
0.009 1.000 7.40e-3 8.70e-3 ✓ sig. Cluster 111 →
Chromosome 16p11.2 microdeletion syndrome Premature ovarian failure
1 gene
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1 of 1 corroborated by 2+ sources
SH2B1(2)
0.009 1.000 7.40e-3 8.70e-3 ✓ sig. —
Chylothorax Tetralogy of fallot
1 gene
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1 of 1 corroborated by 2+ sources
PKD1L1(2)
0.009 1.000 7.40e-3 8.70e-3 ✓ sig. —
ciliary dyskinesia, primary, 43 Tetralogy of fallot
1 gene
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1 of 1 corroborated by 2+ sources
FOXJ1(2)
0.009 1.000 7.40e-3 8.70e-3 ✓ sig. —
ciliary dyskinesia, primary, 54 Spermatogenic failure
1 gene
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1 of 1 corroborated by 2+ sources
CFAP54(3)
0.009 1.000 7.40e-3 8.70e-3 ✓ sig. —
Blepharophimosis-ptosis-epicanthus inversus syndrome Premature ovarian failure
1 gene
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1 of 1 corroborated by 2+ sources
FOXL2(6)
0.009 1.000 7.40e-3 8.70e-3 ✓ sig. —
Cerebellar ataxia neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline
1 gene
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1 of 1 corroborated by 2+ sources
CAPRIN1(2)
0.009 1.000 7.40e-3 8.70e-3 ✓ sig. —
Cerebellar ataxia neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder
1 gene
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1 of 1 corroborated by 2+ sources
CAPRIN1(2)
0.009 1.000 7.40e-3 8.70e-3 ✓ sig. —
Nonobstructive azoospermia Spermatogenic failure
1 gene
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1 of 1 corroborated by 2+ sources
SLC26A8(5)
0.009 1.000 7.40e-3 8.70e-3 ✓ sig. —
NR2F2 related multiple congenital anomalies/dysmorphic syndrome Tetralogy of fallot
1 gene
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1 of 1 corroborated by 2+ sources
NR2F2(2)
0.009 1.000 7.40e-3 8.70e-3 ✓ sig. —
Ovarian teratoma Premature ovarian failure
1 gene
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1 of 1 corroborated by 2+ sources
BMP15(2)
0.009 1.000 7.40e-3 8.70e-3 ✓ sig. —
Anovulation Premature ovarian failure
1 gene
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1 of 1 corroborated by 2+ sources
NR5A2(2)
0.009 1.000 7.40e-3 8.70e-3 ✓ sig. —
colorectal cancer, hereditary nonpolyposis, type 7 Premature ovarian failure
1 gene
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1 of 1 corroborated by 2+ sources
MLH3(2)
0.009 1.000 7.40e-3 8.70e-3 ✓ sig. —
Congenital alpha-fetoprotein deficiency Premature ovarian failure
1 gene
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1 of 1 corroborated by 2+ sources
AFP(2)
0.009 1.000 7.40e-3 8.70e-3 ✓ sig. Cluster 31 →
Congenital insufficiency of mitral valve Tetralogy of fallot
1 gene
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1 of 1 corroborated by 2+ sources
LMCD1(2)
0.009 1.000 7.40e-3 8.70e-3 ✓ sig. —
Spermatogenic failure spermatogenic failure 38
1 gene
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1 of 1 corroborated by 2+ sources
ARMC2(5)
0.009 1.000 7.40e-3 8.70e-3 ✓ sig. Cluster 31 →
Spermatogenic failure spermatogenic failure 39
1 gene
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1 of 1 corroborated by 2+ sources
DNAH17(4)
0.009 1.000 7.40e-3 8.70e-3 ✓ sig. Cluster 31 →
Spermatogenic failure spermatogenic failure 46
1 gene
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1 of 1 corroborated by 2+ sources
DNAH8(5)
0.009 1.000 7.40e-3 8.70e-3 ✓ sig. —

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