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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
Bor syndrome Branchiootic syndrome
2 genes
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2 of 2 corroborated by 2+ sources
EYA1(6), SIX1(6)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. Cluster 145 →
Brown-vialetto-van laere syndrome Riboflavin transporter deficiency
2 genes
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2 of 2 corroborated by 2+ sources
SLC52A3(7), SLC52A2(6)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. —
Capillary malformation Congenital hemangioma
2 genes
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2 of 2 corroborated by 2+ sources
GNA11(2), GNAQ(2)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. Cluster 40 →
Caudal regression syndrome Sacral defect
2 genes
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2 of 2 corroborated by 2+ sources
PCSK5(2), VANGL1(5)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. Cluster 94 →
Cerebral creatine deficiency syndrome Creatine deficiency
2 genes
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2 of 2 corroborated by 2+ sources
GAMT(3), SLC6A8(4)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. Cluster 358 →
Chondrocalcinosis Craniometadiaphyseal dysplasia
2 genes
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1 of 2 corroborated by 2+ sources
ANKH(5), OTULIN(1)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. Cluster 208 →
Senter syndrome X-linked hearing loss with perilymphatic gusher
2 genes
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2 of 2 corroborated by 2+ sources
GJB6(2), GJB2(2)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. Cluster 210 →
Spinocerebellar ataxia, x-linked X-linked progressive cerebellar ataxia
2 genes
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2 of 2 corroborated by 2+ sources
ATP2B3(5), GJB1(3)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. —
Hearing loss with stapes fixation Senter syndrome
2 genes
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2 of 2 corroborated by 2+ sources
GJB6(2), GJB2(2)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. Cluster 210 →
Hemoglobin barts fetalis syndrome methemoglobinemia, alpha type
2 genes
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2 of 2 corroborated by 2+ sources
HBA1(3), HBA2(3)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. Cluster 72 →
Hemoglobin h disease methemoglobinemia, alpha type
2 genes
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2 of 2 corroborated by 2+ sources
HBA1(6), HBA2(6)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. Cluster 72 →
Hemoglobin m disease methemoglobinemia, alpha type
2 genes
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2 of 2 corroborated by 2+ sources
HBA1(4), HBA2(3)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. Cluster 72 →
Hyperkalemic periodic paralysis Paramyotonia congenita
2 genes
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1 of 2 corroborated by 2+ sources
SCN4A(5), RANBP2(1)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. Cluster 163 →
Benign hypercalcemia Hypocalciuric hypercalcemia
2 genes
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2 of 2 corroborated by 2+ sources
AP2S1(6), CASR(7)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. —
Beta-hydroxyisobutyryl-coa deacylase deficiency Cowchock syndrome
2 genes
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1 of 2 corroborated by 2+ sources
AIFM1(2), RAB33A(1)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. —
Digitrenocerebral syndrome Doors syndrome
2 genes
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2 of 2 corroborated by 2+ sources
TBC1D24(4), ATP6V1B2(3)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. Cluster 90 →
Dyssegmental dysplasia Schwartz-jampel syndrome
2 genes
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1 of 2 corroborated by 2+ sources
HSPG2(7), LDLRAD2(1)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. Cluster 350 →
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome Seborrhea-like dermatitis with psoriasiform elements
2 genes
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2 of 2 corroborated by 2+ sources
TBCD(5), ZNF750(5)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. Cluster 108 →
ehlers-danlos syndrome, classic type Neuropathic spinal arthropathy
2 genes
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2 of 2 corroborated by 2+ sources
COL5A1(2), COL5A2(2)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. —
Combined cellular and humoral immune defects with granulomas Combined immunodeficiency with granulomatosis
2 genes
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2 of 2 corroborated by 2+ sources
RAG1(4), RAG2(4)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. Cluster 173 →
Combined immunodeficiency with facio-oculo-skeletal anomalies Roifman syndrome
2 genes
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2 of 2 corroborated by 2+ sources
PIK3CD(5), KNSTRN(5)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. Cluster 181 →
Combined immunodeficiency with granulomatosis Combined immunodeficiency with skin granulomas
2 genes
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2 of 2 corroborated by 2+ sources
RAG1(3), RAG2(3)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. Cluster 173 →
Combined immunodeficiency-multiple intestinal atresia Combined immunodeficiency, enteropathy spectrum
2 genes
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2 of 2 corroborated by 2+ sources
PI4KA(2), TTC7A(2)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. Cluster 267 →
Combined immunodeficiency-multiple intestinal atresia Gastrointestinal defects and immunodeficiency syndrome
2 genes
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2 of 2 corroborated by 2+ sources
PI4KA(4), TTC7A(5)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. Cluster 267 →
Combined immunodeficiency, x-linked X-linked combined immunodeficiency diseases
2 genes
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2 of 2 corroborated by 2+ sources
IL2RG(4), SASH3(3)
0.500 1.000 2.53e-8 1.93e-7 ✓ sig. —

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