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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
Anhydramnios Polycystic kidney disease
5 genes
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5 of 5 corroborated by 2+ sources
DNAJB11(7), NPHP3(2), PKD1(8), PKD2(8), PKHD1(8)
0.091 0.455 1.08e-10 1.07e-9 ✓ sig. —
Developmental and epileptic encephalopathy Generalized epilepsy
12 genes
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11 of 12 corroborated by 2+ sources
CACNA1A(5), CUX2(6), GABRA2(6), RBFOX1(2), SIK1(6), SZT2(7), SCN1A(8), CACNA2D2(2), GLS(4), GABRG1(2), SLC38A3(6), STX1B(1)
0.044 0.185 1.11e-10 1.10e-9 ✓ sig. —
Rosacea Seborrheic dermatitis
5 genes
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HERC2(1), IRF1(1), IRF4(1), MC1R(1), SLC45A2(1)
0.106 0.357 1.19e-10 1.18e-9 ✓ sig. —
Hemolytic anemia Spherocytosis
5 genes
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4 of 5 corroborated by 2+ sources
ANK1(3), SPTA1(3), SPTB(3), SLC4A1(3), PLEKHG3(1)
0.082 0.500 1.20e-10 1.19e-9 ✓ sig. —
Craniofacial microsomia Goldenhar syndrome
4 genes
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3 of 4 corroborated by 2+ sources
MYT1(1), FOXI3(4), AMIGO2(2), SF3B2(4)
0.182 0.400 1.22e-10 1.21e-9 ✓ sig. Cluster 48 →
Idiopathic pulmonary fibrosis Obstructive airway disease
10 genes
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9 of 10 corroborated by 2+ sources
RTEL1(4), TERT(4), TNF(2), DSP(4), PTGS2(1), HIF1A(2), SFTPC(3), FAM13A(4), SFTPA1(2), TOLLIP(2)
0.058 0.122 1.23e-10 1.21e-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 →
Congenital insensitivity to pain Congenital pain insensitivity
3 genes
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3 of 3 corroborated by 2+ sources
SCN11A(2), SCN9A(2), PRDM12(2)
0.375 0.750 1.31e-10 1.29e-9 ✓ sig. Cluster 164 →
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. —
Collagen vi-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)
0.375 0.750 1.31e-10 1.29e-9 ✓ sig. —
Axenfeld-rieger syndrome Rieger syndrome
3 genes
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3 of 3 corroborated by 2+ sources
COL4A1(2), FOXC1(6), PITX2(6)
0.375 0.750 1.31e-10 1.29e-9 ✓ sig. Cluster 253 →
Benign infantile epilepsy Benign neonatal epilepsy
3 genes
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3 of 3 corroborated by 2+ sources
KCNQ2(4), SCN2A(3), KCNQ3(3)
0.375 0.750 1.31e-10 1.29e-9 ✓ sig. Cluster 165 →
Hydrophthalmos Primary congenital glaucoma
3 genes
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1 of 3 corroborated by 2+ sources
CYP1B1(1), TEK(2), LTBP2(1)
0.375 0.750 1.31e-10 1.29e-9 ✓ sig. —
Alport syndrome Collagen vi-related myopathy
3 genes
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3 of 3 corroborated by 2+ sources
COL4A5(3), COL4A3(5), COL4A4(5)
0.375 0.750 1.31e-10 1.29e-9 ✓ sig. Cluster 49 →
Alport syndrome, x-linked Collagen vi-related myopathy
3 genes
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1 of 3 corroborated by 2+ sources
COL4A5(3), COL4A3(1), COL4A4(1)
0.375 0.750 1.31e-10 1.29e-9 ✓ sig. Cluster 49 →
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 →
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 →
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. —
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 →
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 →
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 →

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