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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
Hereditary sensory and motor neuropathy Neuropathy, congenital hypomyelinating
2 genes
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2 of 2 corroborated by 2+ sources
EGR2(3), MPZ(5)
0.200 0.400 1.26e-6 7.29e-6 ✓ sig. Cluster 190 →
Cyanosis Methemoglobinemia
2 genes
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2 of 2 corroborated by 2+ sources
HBB(4), CYB5R3(5)
0.200 0.400 1.26e-6 7.29e-6 ✓ sig. —
Cyclin-dependent kinase-like 5 deficiency Retinoschisis
2 genes
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1 of 2 corroborated by 2+ sources
CDKL5(1), RS1(4)
0.200 0.400 1.26e-6 7.29e-6 ✓ sig. —
De lange syndrome Wiedemann-steiner syndrome
2 genes
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2 of 2 corroborated by 2+ sources
SMC1A(3), SMC3(3)
0.200 0.400 1.26e-6 7.29e-6 ✓ sig. Cluster 297 →
Central areolar choroidal dystrophy Retinitis punctata albescens
2 genes
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1 of 2 corroborated by 2+ sources
PRPH2(3), EYS(1)
0.200 0.400 1.26e-6 7.29e-6 ✓ sig. Cluster 45 →
Cerebrooculofacioskeletal syndrome Uv-sensitive syndrome
2 genes
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1 of 2 corroborated by 2+ sources
ERCC6(6), PGBD3(1)
0.200 0.400 1.26e-6 7.29e-6 ✓ sig. —
Clear cell sarcoma of kidney Endometrial stromal sarcoma
2 genes
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YWHAE(1), NUTM2B(1)
0.200 0.400 1.26e-6 7.29e-6 ✓ sig. Cluster 223 →
Aortic arch syndrome Birdshot chorioretinopathy
2 genes
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1 of 2 corroborated by 2+ sources
HLA-B(1), HLA-A(2)
0.200 0.400 1.26e-6 7.29e-6 ✓ sig. —
Aplasia cutis congenita Other epidermolysis bullosa
2 genes
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2 of 2 corroborated by 2+ sources
PLEC(3), ITGB4(3)
0.200 0.400 1.26e-6 7.29e-6 ✓ sig. —
Growth hormone-secreting pituitary adenoma Pituitary neoplasms
2 genes
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PRL(1), GH1(1)
0.200 0.400 1.26e-6 7.29e-6 ✓ sig. Cluster 82 →
Congenital malformation syndromes associated with short stature noonan syndrome with multiple lentigines
2 genes
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2 of 2 corroborated by 2+ sources
BRAF(2), PTPN11(2)
0.200 0.400 1.26e-6 7.29e-6 ✓ sig. Cluster 42 →
Arteriosclerosis Barrett esophagus
5 genes
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3 of 5 corroborated by 2+ sources
APOB(2), MMP12(1), PTGS2(2), MMP1(1), MSR1(5)
0.046 0.122 1.28e-6 7.35e-6 ✓ sig. —
Hematologic disease Polycythemia
3 genes
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1 of 3 corroborated by 2+ sources
H2BC4(1), HFE(1), JAK2(3)
0.086 0.167 1.28e-6 7.40e-6 ✓ sig. —
B-lymphoblastic leukemia/lymphoma Carcinogenesis
3 genes
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3 of 3 corroborated by 2+ sources
GATA3(2), CDKN2A(2), ABL1(2)
0.086 0.167 1.28e-6 7.40e-6 ✓ sig. Cluster 3 →
Lipodystrophy Restrictive dermopathy
2 genes
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2 of 2 corroborated by 2+ sources
LMNA(7), ZMPSTE24(5)
0.105 1.000 1.29e-6 7.42e-6 ✓ sig. —
Congenital neck anomaly Nemaline myopathy
2 genes
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1 of 2 corroborated by 2+ sources
RIF1(1), NEB(7)
0.105 1.000 1.29e-6 7.42e-6 ✓ sig. Cluster 51 →
Congenital cardiomyopathy Melas syndrome
2 genes
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1 of 2 corroborated by 2+ sources
ND5(2), ND4(1)
0.105 1.000 1.29e-6 7.42e-6 ✓ sig. Cluster 32 →
Junctional epidermolysis bullosa Lethal acantholytic epidermolysis bullosa
2 genes
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2 of 2 corroborated by 2+ sources
JUP(3), DSP(5)
0.105 1.000 1.29e-6 7.42e-6 ✓ sig. —
Mouth neoplasms Neoplasms
5 genes
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1 of 5 corroborated by 2+ sources
TP53(2), RMDN2(1), KCNA5(1), ANGPTL2(1), RALGPS1(1)
0.047 0.106 1.31e-6 7.54e-6 ✓ sig. —
Congenital anomalies of the kidney and urinary tract Mayer-rokitansky-kuster-hauser syndrome
3 genes
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2 of 3 corroborated by 2+ sources
HNF1B(2), GREB1L(1), TBX6(2)
0.052 0.429 1.33e-6 7.67e-6 ✓ sig. —
Small cell lung carcinoma Transitional cell carcinoma
5 genes
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1 of 5 corroborated by 2+ sources
TP53(2), CREBBP(1), CSF3(1), KMT2A(1), EP300(1)
0.042 0.152 1.34e-6 7.72e-6 ✓ sig. —
Spondyloepimetaphyseal dysplasia Spondylometaphyseal dysplasia
3 genes
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3 of 3 corroborated by 2+ sources
COL2A1(5), TRPV4(6), TONSL(3)
0.081 0.214 1.36e-6 7.81e-6 ✓ sig. —
Blindness Night blindness, congenital stationary
3 genes
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1 of 3 corroborated by 2+ sources
ABCA4(1), USH2A(1), RHO(3)
0.081 0.214 1.36e-6 7.81e-6 ✓ sig. —
Erectile dysfunction Sleep apnea
5 genes
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4 of 5 corroborated by 2+ sources
SLC39A8(1), NOS3(2), BCL2(3), EDN1(2), EDNRA(2)
0.047 0.102 1.38e-6 7.91e-6 ✓ sig. —
Bouillaud’s disease Gastroparesis
2 genes
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2 of 2 corroborated by 2+ sources
0.154 0.667 1.39e-6 7.96e-6 ✓ sig. Cluster 1 →

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