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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 arteriovenous malformation Costello syndrome
3 genes
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2 of 3 corroborated by 2+ sources
MAP2K1(3), HRAS(6), LRRC56(1)
0.150 0.333 3.94e-8 2.95e-7 ✓ sig. —
Female infertility Hypogonadism
8 genes
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8 of 8 corroborated by 2+ sources
CYP17A1(2), CYP19A1(3), LEP(2), FSHB(2), PRL(2), AR(2), LEPR(2), LHB(2)
0.047 0.105 3.94e-8 2.95e-7 ✓ sig. —
Brachycephaly Craniosynostosis
4 genes
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3 of 4 corroborated by 2+ sources
FGFR3(1), TCF12(3), TWIST1(3), ZIC1(6)
0.061 0.400 4.01e-8 3.01e-7 ✓ sig. —
Congenital microcephaly Seckel syndrome
4 genes
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2 of 4 corroborated by 2+ sources
CDK5RAP2(1), CEP152(6), CPAP(6), RNF17(1)
0.087 0.222 4.03e-8 3.02e-7 ✓ sig. Cluster 101 →
Haddad syndrome Hirschsprung disease
4 genes
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4 of 4 corroborated by 2+ sources
RET(5), GDNF(4), EDN3(5), PHOX2B(4)
0.055 0.444 4.06e-8 3.04e-7 ✓ sig. Cluster 387 →
Congenital central hypoventilation syndrome Hirschsprung disease
4 genes
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4 of 4 corroborated by 2+ sources
RET(5), GDNF(4), EDN3(5), PHOX2B(4)
0.055 0.444 4.06e-8 3.04e-7 ✓ sig. Cluster 387 →
Congenital hypoplasia of kidney Renal agenesis
3 genes
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1 of 3 corroborated by 2+ sources
RET(2), EYA1(1), WNT9B(1)
0.143 0.375 4.18e-8 3.12e-7 ✓ sig. Cluster 152 →
Chronic obstructive pulmonary disease Emphysema
5 genes
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1 of 5 corroborated by 2+ sources
TP53(1), SERPINA1(2), NOS2(1), TNFRSF8(1), HDAC2(1)
0.068 0.139 4.18e-8 3.13e-7 ✓ sig. Cluster 119 →
Cholangiocarcinoma Hereditary breast and ovarian cancer syndrome
4 genes
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4 of 4 corroborated by 2+ sources
PTEN(2), TP53(2), BRCA2(4), BRCA1(4)
0.080 0.267 4.22e-8 3.16e-7 ✓ sig. —
Sarcoma Thyroid neoplasms
5 genes
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1 of 5 corroborated by 2+ sources
HNF1B(1), TP53(2), TNF(1), CSF2(1), IL6(1)
0.067 0.152 4.24e-8 3.17e-7 ✓ sig. —
Coach syndrome Cystic kidney disease
3 genes
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3 of 3 corroborated by 2+ sources
CC2D2A(3), RPGRIP1L(3), TMEM67(5)
0.103 0.600 4.26e-8 3.19e-7 ✓ sig. —
Hemolytic anemia Rh deficiency syndrome
3 genes
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3 of 3 corroborated by 2+ sources
RHAG(3), RHCE(4), RHD(4)
0.054 1.000 4.31e-8 3.22e-7 ✓ sig. —
Cardiofaciocutaneous syndrome Myelomonocytic leukemia
3 genes
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3 of 3 corroborated by 2+ sources
KRAS(8), NRAS(3), PTPN11(6)
0.150 0.300 4.33e-8 3.23e-7 ✓ sig. Cluster 42 →
Angina pectoris Brain edema
3 genes
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1 of 3 corroborated by 2+ sources
PLAU(2), TNF(1), MMP9(1)
0.150 0.300 4.33e-8 3.23e-7 ✓ sig. —
Cachexia Delirium
3 genes
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3 of 3 corroborated by 2+ sources
IGF1(2), IL6(2), CXCL8(2)
0.150 0.300 4.33e-8 3.23e-7 ✓ sig. Cluster 76 →
Cachexia Esotropia
3 genes
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2 of 3 corroborated by 2+ sources
TNF(2), PTGS2(2), CXCL8(1)
0.150 0.300 4.33e-8 3.23e-7 ✓ sig. Cluster 76 →
Papilloma Tongue neoplasms
3 genes
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SOD2(1), PTGS2(1), HRAS(1)
0.150 0.300 4.33e-8 3.23e-7 ✓ sig. Cluster 269 →
Asbestosis Sepsis
4 genes
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4 of 4 corroborated by 2+ sources
IL1B(2), TNF(2), NLRP3(2), NOS2(2)
0.083 0.235 4.62e-8 3.44e-7 ✓ sig. —
Cyclocephaly Semilobar holoprosencephaly
3 genes
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3 of 3 corroborated by 2+ sources
FGF8(2), GAS1(2), ZIC2(2)
0.130 0.429 4.68e-8 3.48e-7 ✓ sig. —
Congenital heart septal defect Congenital septal defect of heart
3 genes
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3 of 3 corroborated by 2+ sources
PCSK5(2), NKX2-5(2), CITED2(2)
0.130 0.429 4.68e-8 3.48e-7 ✓ sig. —
Anorexia Nausea
3 genes
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2 of 3 corroborated by 2+ sources
TNF(2), IFNA2(1), TNFRSF10A(2)
0.130 0.429 4.68e-8 3.48e-7 ✓ sig. —
Chorea Pemphigus vulgaris
3 genes
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3 of 3 corroborated by 2+ sources
0.130 0.429 4.68e-8 3.48e-7 ✓ sig. Cluster 1 →
Auditory neuropathy Hereditary hearing loss
5 genes
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5 of 5 corroborated by 2+ sources
OTOF(2), DIAPH1(2), MYO7A(2), WFS1(2), SLC17A8(2)
0.065 0.161 4.69e-8 3.49e-7 ✓ sig. Cluster 26 →
Bone osteosarcoma Osteosarcoma
3 genes
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3 of 3 corroborated by 2+ sources
CHEK2(3), TP53(3), RB1(3)
0.052 1.000 4.81e-8 3.58e-7 ✓ sig. Cluster 3 →
Atherosclerosis Lewy body disease
9 genes
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8 of 9 corroborated by 2+ sources
APOC1(1), APOE(3), CLU(2), IGF2(2), AGER(2), SOD2(2), NOS2(2), EDN1(2), HRH1(3)
0.044 0.095 4.88e-8 3.63e-7 ✓ sig. —

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