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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
Digenic alport syndrome Steroid-resistant nephrotic syndrome
3 genes
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3 of 3 corroborated by 2+ sources
COL4A5(2), COL4A3(2), COL4A4(2)
0.214 1.000 4.70e-10 4.39e-9 ✓ sig. Cluster 49 →
Hyperhomocysteinemia Malnutrition
3 genes
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3 of 3 corroborated by 2+ sources
MTHFR(2), CBS(2), MTR(2)
0.214 1.000 4.70e-10 4.39e-9 ✓ sig. Cluster 121 →
Erythrocytosis Polycythemia, primary familial and congenital
3 genes
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3 of 3 corroborated by 2+ sources
SH2B3(3), EPOR(3), JAK2(3)
0.214 1.000 4.70e-10 4.39e-9 ✓ sig. —
Erythrocytosis Familial polycythemia
3 genes
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3 of 3 corroborated by 2+ sources
SH2B3(3), EPOR(5), JAK2(3)
0.214 1.000 4.70e-10 4.39e-9 ✓ sig. —
Erythrocytosis Hemoglobin m disease
3 genes
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3 of 3 corroborated by 2+ sources
HBA1(6), HBA2(6), HBB(7)
0.214 1.000 4.70e-10 4.39e-9 ✓ sig. —
Urethral obstruction Ventricular remodeling
5 genes
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AGT(1), SMAD3(1), TGFB1(1), NPPB(1), NPPA(1)
0.106 0.200 4.74e-10 4.42e-9 ✓ sig. —
Polycystic liver disease Tubulointerstitial kidney disease
4 genes
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2 of 4 corroborated by 2+ sources
HNF1B(1), SEC61A1(3), SEC63(6), RUVBL1(1)
0.138 0.444 4.74e-10 4.42e-9 ✓ sig. Cluster 23 →
Congenital myasthenic syndrome Pena-shokeir syndrome
6 genes
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6 of 6 corroborated by 2+ sources
SCN4A(3), RAPSN(3), CHRND(3), MUSK(4), SLC18A3(3), DOK7(5)
0.079 0.207 4.93e-10 4.59e-9 ✓ sig. —
Dysarthria Spastic ataxia
6 genes
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CACNA1A(1), PNPLA6(1), HARS1(1), DNMT1(1), SEPSECS(1), SPG7(1)
0.069 0.273 5.00e-10 4.65e-9 ✓ sig. —
Essential thrombocythemia Myeloproliferative disorder
5 genes
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5 of 5 corroborated by 2+ sources
SH2B3(3), TP53(3), MPL(3), JAK2(4), CALR(3)
0.081 0.385 5.02e-10 4.67e-9 ✓ sig. Cluster 53 →
Complex cortical dysplasia with other brain malformations Cortical development malformation
4 genes
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4 of 4 corroborated by 2+ sources
TUBG1(3), KIF5C(4), TUBB2B(4), KIF2A(3)
0.125 0.500 5.22e-10 4.86e-9 ✓ sig. Cluster 176 →
hearing loss, autosomal recessive Isolated sensorineural deafness
5 genes
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5 of 5 corroborated by 2+ sources
TRIOBP(2), PTPRQ(2), PPIP5K2(2), TMEM132E(2), WBP2(2)
0.041 0.714 5.26e-10 4.89e-9 ✓ sig. —
Thyroid neoplasms Transitional cell carcinoma
6 genes
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TP53(1), TNF(1), PTGS2(1), IFNA2(1), HRAS(1), CCND1(1)
0.081 0.182 5.28e-10 4.91e-9 ✓ sig. Cluster 5 →
Polyarticular juvenile idiopathic arthritis Uveomeningoencephalitic syndrome
4 genes
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4 of 4 corroborated by 2+ sources
FAS(2), HLA-DQB1(2), PTPN22(2), STAT4(3)
0.111 0.571 5.35e-10 4.98e-9 ✓ sig. —
Ap-4 deficiency syndrome Intellectual disability
4 genes
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4 of 4 corroborated by 2+ sources
AP4M1(4), AP4B1(4), AP4E1(4), AP4S1(4)
0.052 1.000 5.48e-10 5.09e-9 ✓ sig. —
Ap4-related intellectual disability and spastic paraplegia Intellectual disability
4 genes
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4 of 4 corroborated by 2+ sources
AP4M1(3), AP4B1(3), AP4E1(3), AP4S1(3)
0.052 1.000 5.48e-10 5.09e-9 ✓ sig. —
Aniridia Wagr syndrome
3 genes
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3 of 3 corroborated by 2+ sources
WT1(5), ELP4(5), PAX6(5)
0.273 0.750 5.52e-10 5.12e-9 ✓ sig. Cluster 35 →
Carney-stratakis syndrome Cowden disease
3 genes
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3 of 3 corroborated by 2+ sources
SDHB(4), SDHD(5), SDHC(5)
0.273 0.750 5.52e-10 5.12e-9 ✓ sig. Cluster 81 →
Homocystinuria with megaloblastic anemia Intracellular cobalamin metabolism disorder
3 genes
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3 of 3 corroborated by 2+ sources
MTRR(4), MTR(2), MMADHC(2)
0.273 0.750 5.52e-10 5.12e-9 ✓ sig. —
Hypercalciuria Idiopathic infantile hypercalcemia
3 genes
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3 of 3 corroborated by 2+ sources
KL(2), SLC34A1(5), CYP24A1(5)
0.273 0.750 5.52e-10 5.12e-9 ✓ sig. Cluster 262 →
Aplastic anemia Beta thalassemia
5 genes
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2 of 5 corroborated by 2+ sources
GSTT1(1), TNF(1), HLA-DQB1(1), CAD(2), UMPS(2)
0.102 0.238 5.55e-10 5.15e-9 ✓ sig. —
Bone disease Growth disorder
7 genes
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2 of 7 corroborated by 2+ sources
LTBP3(2), IGF2(1), KCNMA1(1), NPPC(1), SH3PXD2B(1), AHR(2), AFF4(1)
0.063 0.200 5.58e-10 5.17e-9 ✓ sig. —
Cardiac conduction disease Conduction disorder of the heart
4 genes
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TRPM4(1), MYH6(1), SCN5A(1), SCN1B(1)
0.133 0.444 5.69e-10 5.27e-9 ✓ sig. Cluster 4 →
Autoimmune thyroid disease Immunodeficiency
13 genes
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13 of 13 corroborated by 2+ sources
IFIH1(5), RHOH(2), IRF1(5), IRF4(3), BACH2(5), CARD9(3), IL2RA(2), IL7R(6), TYK2(3), RASGRP1(5), CD247(4), TBX21(5) +1 more
0.048 0.094 5.76e-10 5.33e-9 ✓ sig. —
Cortical development malformation Polymicrogyria
5 genes
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4 of 5 corroborated by 2+ sources
DHX37(1), DYNC1H1(2), AKT3(2), WDR62(2), TUBB2B(3)
0.104 0.200 5.81e-10 5.37e-9 ✓ sig. —

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