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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
Congenital hypoplastic anemia Hypoplastic anemia
2 genes
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2 of 2 corroborated by 2+ sources
CAD(2), UMPS(2)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 168 →
Rheumatic disease of mitral valve Rheumatic mitral regurgitation
2 genes
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ACE(1), MTHFR(1)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 195 →
Congenital porencephaly Vascular leukoencephalopathy
2 genes
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2 of 2 corroborated by 2+ sources
COL4A2(2), COL4A1(2)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 198 →
Congenital porencephaly Posttraumatic porencephalic cyst of brain
2 genes
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COL4A2(1), COL4A1(1)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 198 →
Congenital reticular ichthyosiform erythroderma Epidermolytic ichthyosis
2 genes
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2 of 2 corroborated by 2+ sources
KRT1(6), KRT10(6)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 230 →
Craniofacial dysplasia short stature ectodermal anomalies intellectual disability syndrome Developmental delay with short stature and dysmorphic facial features
2 genes
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2 of 2 corroborated by 2+ sources
DPH1(8), DPH2(4)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. —
Deafness enamel hypoplasia nail defects Deafness-enamel hypoplasia-nail defects syndrome
2 genes
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2 of 2 corroborated by 2+ sources
PEX6(3), PEX1(3)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 219 →
Deafness with congenital onychodystrophy Doors syndrome
2 genes
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2 of 2 corroborated by 2+ sources
TBC1D24(4), ATP6V1B2(5)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 90 →
Dejerine-lichtheim phenomenon Postictal aphasia
2 genes
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PLAT(1), L1CAM(1)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 258 →
Dejerine-lichtheim phenomenon Syntactic aphasia
2 genes
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PLAT(1), L1CAM(1)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 258 →
Malignant peripheral nerve sheath tumor Malignant triton tumor
2 genes
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SH3PXD2A(1), HTRA1(1)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 403 →
Microcephaly, epilepsy, and diabetes syndrome Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
2 genes
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2 of 2 corroborated by 2+ sources
IER3IP1(7), YIPF5(4)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. —
Mitral valve disease Rheumatic disease of mitral valve
2 genes
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ACE(1), MTHFR(1)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 195 →
Mitral valve disease Rheumatic mitral regurgitation
2 genes
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ACE(1), MTHFR(1)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 195 →
Boichis syndrome Senior-boichis syndrome
2 genes
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2 of 2 corroborated by 2+ sources
TMEM67(3), DCDC2(3)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 306 →
Keratosis follicularis spinulosa decalvans, x-linked Olmsted syndrome, x-linked
2 genes
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1 of 2 corroborated by 2+ sources
MBTPS2(6), YY2(1)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 332 →
Hemolytic disease of fetus and newborn Rh isoimmunization
2 genes
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1 of 2 corroborated by 2+ sources
RHD(2), RSRP1(1)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 302 →
erythrocytosis, familial, 7 methemoglobinemia, alpha type
2 genes
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HBA1(1), HBA2(1)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 72 →
Erythroid hypoplasia Ovarian agenesis
2 genes
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DIPK1A(1), RPL5(1)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 236 →
Familial ventricular tachycardia Ventricular tachycardia
2 genes
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1 of 2 corroborated by 2+ sources
GNAI2(4), ABCA5(1)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. —
Glanzmann thrombasthenia platelet-type bleeding disorder 16
2 genes
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2 of 2 corroborated by 2+ sources
ITGB3(8), ITGA2B(8)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. Cluster 33 →
Ochoa syndrome Urofacial syndrome
2 genes
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2 of 2 corroborated by 2+ sources
HPSE2(6), LRIG2(6)
0.667 1.000 8.44e-9 6.82e-8 ✓ sig. —
Eye disease Myopia
10 genes
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10 of 10 corroborated by 2+ sources
ABCA1(2), EFEMP1(2), HLA-DQB1(2), KCNQ5(3), PRSS56(3), LRP2(2), LAMA2(3), GJD2(3), RDH5(3), TYR(2)
0.046 0.106 8.03e-9 6.64e-8 ✓ sig. —
Hereditary hemorrhagic telangiectasia Pulmonary hypertension
4 genes
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4 of 4 corroborated by 2+ sources
SMAD4(3), ENG(7), GDF2(7), ACVRL1(7)
0.062 0.571 7.73e-9 6.40e-8 ✓ sig. —
Giant cell arteritis Graft-versus-host disease
4 genes
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3 of 4 corroborated by 2+ sources
IFNG(2), IL17A(2), PTPN22(2), FCGR3A(1)
0.111 0.222 7.73e-9 6.40e-8 ✓ sig. —

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