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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
Leber congenital amaurosis Retinal degeneration
8 genes
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8 of 8 corroborated by 2+ sources
PDE6B(2), CRX(6), RPE65(6), NMNAT1(6), RPGRIP1L(2), AHI1(2), RPGR(2), RDH12(6)
0.078 0.216 5.30e-12 5.97e-11 ✓ sig. Cluster 7 →
Endometriosis Female infertility
19 genes
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14 of 19 corroborated by 2+ sources
NR2F2(2), ESR2(2), HLA-DRB1(2), PAX2(2), RARB(3), CYP19A1(2), ESR1(3), IGF1(3), PRL(2), PAPPA(2), EMX2(3), SYNE1(1) +7 more
0.041 0.184 5.59e-12 6.28e-11 ✓ sig. —
Dejerine-sottas disease Motor neuron disease
8 genes
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1 of 8 corroborated by 2+ sources
TRPV4(1), DYNC1H1(1), MFN2(1), NEFL(1), SH3TC2(1), PLEKHG5(1), GARS1(1), MPZ(3)
0.078 0.211 5.96e-12 6.70e-11 ✓ sig. Cluster 15 →
Congenital anomalies of the kidney and urinary tract Renal agenesis
6 genes
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2 of 6 corroborated by 2+ sources
FRAS1(1), RET(2), ROBO1(1), TBX18(1), GREB1L(2), BICC1(1)
0.095 0.400 6.07e-12 6.81e-11 ✓ sig. —
Anterior segment mesenchymal dysgenesis Axenfeld-rieger syndrome
4 genes
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4 of 4 corroborated by 2+ sources
COL4A1(2), FOXC1(6), PAX6(2), PITX2(6)
0.235 0.667 6.41e-12 7.19e-11 ✓ sig. —
3mc syndrome Craniofacial ulnar renal syndrome
3 genes
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3 of 3 corroborated by 2+ sources
COLEC10(2), COLEC11(2), MASP1(3)
0.600 1.000 6.58e-12 7.30e-11 ✓ sig. Cluster 353 →
Alport syndrome Digenic alport syndrome
3 genes
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3 of 3 corroborated by 2+ sources
COL4A5(4), COL4A3(6), COL4A4(6)
0.600 1.000 6.58e-12 7.30e-11 ✓ sig. Cluster 49 →
Alport syndrome, x-linked Digenic alport syndrome
3 genes
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3 of 3 corroborated by 2+ sources
COL4A5(4), COL4A3(3), COL4A4(3)
0.600 1.000 6.58e-12 7.30e-11 ✓ sig. Cluster 49 →
Mandibuloacral dysostosis Mandibuloacral dysplasia
3 genes
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3 of 3 corroborated by 2+ sources
MTX2(6), LMNA(6), ZMPSTE24(7)
0.600 1.000 6.58e-12 7.30e-11 ✓ sig. Cluster 65 →
Erythromelalgia Paroxysmal extreme pain disorder
3 genes
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1 of 3 corroborated by 2+ sources
SCN10A(1), SCN11A(1), SCN9A(6)
0.600 1.000 6.58e-12 7.30e-11 ✓ sig. Cluster 164 →
Glycinuria with/without oxalate urolithiasis Hyperglycinuria
3 genes
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3 of 3 corroborated by 2+ sources
SLC36A2(5), SLC6A19(2), SLC6A20(2)
0.600 1.000 6.58e-12 7.30e-11 ✓ sig. —
Hypercalcemic tumoral calcinosis Tumoral calcinosis
3 genes
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3 of 3 corroborated by 2+ sources
KL(4), GALNT3(6), FGF23(4)
0.600 1.000 6.58e-12 7.30e-11 ✓ sig. Cluster 407 →
Hyperphosphatemic tumoral calcinosis Tumoral calcinosis
3 genes
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3 of 3 corroborated by 2+ sources
KL(4), GALNT3(7), FGF23(5)
0.600 1.000 6.58e-12 7.30e-11 ✓ sig. Cluster 407 →
collagen 6-related myopathy Ullrich congenital muscular dystrophy
3 genes
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3 of 3 corroborated by 2+ sources
COL6A3(7), COL6A1(7), COL6A2(7)
0.600 1.000 6.58e-12 7.30e-11 ✓ sig. Cluster 393 →
Collagen vi muscular dystrophy Ullrich congenital muscular dystrophy
3 genes
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3 of 3 corroborated by 2+ sources
COL6A3(6), COL6A1(6), COL6A2(6)
0.600 1.000 6.58e-12 7.30e-11 ✓ sig. Cluster 393 →
Congenital cataract hypertrophic cardiomyopathy mitochondrial myopathy syndrome Sengers syndrome
3 genes
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3 of 3 corroborated by 2+ sources
SLC25A4(3), AGK(5), TKFC(3)
0.600 1.000 6.58e-12 7.30e-11 ✓ sig. Cluster 412 →
Congenital vertebral-cardiac-renal anomalies syndrome Vertebral, cardiac, renal, and limb defects syndrome
3 genes
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3 of 3 corroborated by 2+ sources
KYNU(7), HAAO(7), NADSYN1(4)
0.600 1.000 6.58e-12 7.30e-11 ✓ sig. Cluster 386 →
Coronary artery vasospasm Coronary vasospasm
3 genes
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3 of 3 corroborated by 2+ sources
NOS3(2), PON1(2), ARHGAP9(2)
0.600 1.000 6.58e-12 7.30e-11 ✓ sig. Cluster 315 →
Craniofacial ulnar renal syndrome Malpuech facial clefting syndrome
3 genes
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3 of 3 corroborated by 2+ sources
COLEC10(2), COLEC11(2), MASP1(2)
0.600 1.000 6.58e-12 7.30e-11 ✓ sig. Cluster 353 →
Cystine urolithiasis Cystinuria
3 genes
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2 of 3 corroborated by 2+ sources
SLC7A9(8), PREPL(1), SLC3A1(7)
0.600 1.000 6.58e-12 7.30e-11 ✓ sig. —
Delta-beta thalassemia Hemoglobin f disease
3 genes
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2 of 3 corroborated by 2+ sources
HBB(3), HBG2(1), HBG1(3)
0.600 1.000 6.58e-12 7.30e-11 ✓ sig. Cluster 19 →
Autoimmune polyendocrine syndrome Bouillaud’s disease
3 genes
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0.600 1.000 6.58e-12 7.30e-11 ✓ sig. Cluster 1 →
Bouillaud’s disease Oropharyngeal neoplasms
3 genes
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3 of 3 corroborated by 2+ sources
0.600 1.000 6.58e-12 7.30e-11 ✓ sig. Cluster 1 →
Amyotrophic lateral sclerosis Major depressive disorder
88 genes
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44 of 88 corroborated by 2+ sources
GFAP(2), ALCAM(1), ANK3(1), APOE(2), CACNA1A(2), CAMTA1(1), CTNND2(2), DAO(4), DISC1(3), ERBB4(7), GRN(1), INPP4B(1) +76 more
0.040 0.265 6.55e-12 7.30e-11 ✓ sig. —
Nasal polyp Upper respiratory tract disorder
6 genes
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IL18R1(1), IL7R(1), IL1RL1(1), IL33(1), RANBP6(1), TSLP(1)
0.111 0.300 6.66e-12 7.40e-11 ✓ sig. Cluster 137 →

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