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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
Hypomyelinating leukodystrophy Pelizaeus-merzbacher disease
4 genes
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4 of 4 corroborated by 2+ sources
AIMP1(6), HSPD1(5), GJC2(6), MAL(4)
0.121 0.667 1.75e-10 1.70e-9 ✓ sig. —
Hepatolenticular degeneration Oral submucous fibrosis
5 genes
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4 of 5 corroborated by 2+ sources
TNF(2), IL6(2), CXCL8(1), TIMP1(2), LOX(2)
0.116 0.250 1.71e-10 1.66e-9 ✓ sig. Cluster 76 →
Congenital cartilage disorder Spondyloepiphyseal dysplasia
5 genes
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3 of 5 corroborated by 2+ sources
HSPG2(1), COL2A1(8), TRPV4(3), GLB1(1), CHST3(6)
0.114 0.278 1.66e-10 1.62e-9 ✓ sig. —
Melas syndrome Optic neuropathy
4 genes
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1 of 4 corroborated by 2+ sources
ND1(2), ATP6(1), ATP8(1), ND4(1)
0.167 0.444 1.64e-10 1.60e-9 ✓ sig. Cluster 32 →
Congenital anomaly of limb Congenital skin anomaly
4 genes
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4 of 4 corroborated by 2+ sources
TP63(2), IRF6(2), FGFR2(2), CHUK(2)
0.174 0.400 1.63e-10 1.59e-9 ✓ sig. Cluster 377 →
Congenital anomaly of limb Skin abnormalities
4 genes
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4 of 4 corroborated by 2+ sources
TP63(2), IRF6(2), FGFR2(2), CHUK(2)
0.174 0.400 1.63e-10 1.59e-9 ✓ sig. Cluster 377 →
Focal glomerulosclerosis Proteinuria
7 genes
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7 of 7 corroborated by 2+ sources
AGT(2), SPP1(2), CUBN(4), TGFB1(2), MPV17(2), NPHS1(2), HAVCR1(2)
0.075 0.167 1.59e-10 1.55e-9 ✓ sig. Cluster 30 →
Brain cancer Brain neoplasms
4 genes
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APOBEC3C(1), CCT6B(1), FCHO2(1), FOXN3(1)
0.100 0.800 1.57e-10 1.54e-9 ✓ sig. —
Blood coagulation disorder Venous thrombosis
5 genes
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4 of 5 corroborated by 2+ sources
F2(3), MTHFR(1), SERPINC1(2), F5(3), PROC(2)
0.119 0.227 1.53e-10 1.49e-9 ✓ sig. Cluster 55 →
Dysarthria Polyneuropathy
5 genes
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1 of 5 corroborated by 2+ sources
PNPLA6(2), SPG7(1), SMC1A(1), BIVM-ERCC5(1), ERCC5(1)
0.119 0.227 1.53e-10 1.49e-9 ✓ sig. Cluster 239 →
Interstitial cystitis Membranous glomerulonephritis
6 genes
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2 of 6 corroborated by 2+ sources
FKBPL(1), HLA-DQA1(2), HLA-DRB1(2), PPT2(1), SFTA2(1), MUCL3(1)
0.091 0.194 1.46e-10 1.43e-9 ✓ sig. Cluster 1 →
Marshall syndrome Myopia
7 genes
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7 of 7 corroborated by 2+ sources
COL2A1(2), COL11A1(6), LRP2(2), COL9A1(2), LOXL3(5), P3H2(5), GZF1(3)
0.048 0.368 1.41e-10 1.38e-9 ✓ sig. —
Melanocytic nevus Sebaceous gland disease
4 genes
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TP53(1), TYR(1), DEF8(1), SLC45A2(1)
0.182 0.364 1.41e-10 1.38e-9 ✓ sig. —
Central hypoventilation syndrome Haddad syndrome
3 genes
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3 of 3 corroborated by 2+ sources
LBX1(3), MYO1H(3), PHOX2B(5)
0.300 1.000 1.38e-10 1.35e-9 ✓ sig. Cluster 387 →
Central hypoventilation syndrome Congenital central hypoventilation syndrome
3 genes
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3 of 3 corroborated by 2+ sources
LBX1(4), MYO1H(5), PHOX2B(7)
0.300 1.000 1.38e-10 1.35e-9 ✓ sig. Cluster 387 →
Bone marrow failure syndromes Congenital bone marrow failure syndrome
3 genes
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3 of 3 corroborated by 2+ sources
SRP72(3), ERCC6L2(3), DNAJC21(6)
0.300 1.000 1.38e-10 1.35e-9 ✓ sig. Cluster 3 →
familial sleep-related hypermotor epilepsy Nocturnal frontal lobe epilepsy
3 genes
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3 of 3 corroborated by 2+ sources
CHRNA2(6), CHRNB2(6), CHRNA4(6)
0.300 1.000 1.38e-10 1.35e-9 ✓ sig. Cluster 273 →
Cone dystrophy Oguchi disease
5 genes
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1 of 5 corroborated by 2+ sources
CACNA1F(1), PDE6B(1), GUCY2D(1), RHO(1), SAG(6)
0.104 0.357 1.37e-10 1.35e-9 ✓ sig. —
Cardiofaciocutaneous syndrome Non-immune hydrops fetalis
5 genes
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4 of 5 corroborated by 2+ sources
KRAS(8), SHOC2(2), PTPN11(3), HRAS(2), RIT1(1)
0.094 0.417 1.32e-10 1.30e-9 ✓ sig. Cluster 42 →
Bullous pemphigoid Pemphigus vulgaris
4 genes
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2 of 4 corroborated by 2+ sources
0.148 0.571 1.32e-10 1.30e-9 ✓ sig. Cluster 1 →
Budd-chiari syndrome Thrombocythemia
3 genes
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2 of 3 corroborated by 2+ sources
JAK2(6), CALR(4), INSL6(1)
0.375 0.750 1.31e-10 1.29e-9 ✓ sig. —
Cold autoinflammatory syndrome Cryopyrin-associated periodic syndrome
3 genes
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3 of 3 corroborated by 2+ sources
PLCG2(4), NLRP3(6), NLRC4(4)
0.375 0.750 1.31e-10 1.29e-9 ✓ sig. Cluster 192 →
Congenital hypothyroidism due to absence of thyroid gland Congenital thyroid atrophy
3 genes
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TSHR(1), NKX2-5(1), PAX8(1)
0.375 0.750 1.31e-10 1.29e-9 ✓ sig. Cluster 88 →
Congenital hypothyroidism due to absence of thyroid gland Congenital hypothyroidism without goiter
3 genes
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TSHR(1), NKX2-5(1), PAX8(1)
0.375 0.750 1.31e-10 1.29e-9 ✓ sig. Cluster 88 →
Congenital insensitivity to pain Paroxysmal extreme pain disorder
3 genes
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1 of 3 corroborated by 2+ sources
SCN10A(1), SCN11A(1), SCN9A(5)
0.375 0.750 1.31e-10 1.29e-9 ✓ sig. Cluster 164 →

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