Log in to save this analysis

Save This Analysis

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.
0 selected Clear
Disease A ⇵Disease B ⇵Shared genes ⇵Similarity score ⇵Overlap coefficient ⇵P-value ⇵FDR q-value ▼ Shared cluster
Frontonasal dysplasia Hypertelorism, severe, with midface prominence, myopia, intellectual developmental disorder, and bone fragility
1 gene
Show details
1 of 1 corroborated by 2+ sources
IRX5(3)
0.125 1.000 4.52e-4 8.26e-4 ✓ sig. Cluster 345 →
Hypertelorism, severe, with midface prominence, myopia, intellectual developmental disorder, and bone fragility Hypochromic microcytic anemia
1 gene
Show details
1 of 1 corroborated by 2+ sources
IRX5(3)
0.167 1.000 3.23e-4 6.41e-4 ✓ sig. —
Anodontia Hypertelorism, severe, with midface prominence, myopia, intellectual developmental disorder, and bone fragility
1 gene
Show details
1 of 1 corroborated by 2+ sources
IRX5(2)
0.200 1.000 2.58e-4 5.38e-4 ✓ sig. Cluster 345 →
Bone fragility Short stature, optic nerve atrophy, pelger-huet anomaly and/or infantile liver failure
1 gene
Show details
NBAS(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Craniofacial dysplasia - osteopenia syndrome Hypertelorism, severe, with midface prominence, myopia, intellectual developmental disorder, and bone fragility
1 gene
Show details
1 of 1 corroborated by 2+ sources
IRX5(4)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 345 →
Bone fragility Short stature-optic atrophy-pelger-huc+t anomaly syndrome
1 gene
Show details
NBAS(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Calvarial doughnut lesions with bone fragility Doughnut lesion of calvaria and bone fragility syndrome
1 gene
Show details
1 of 1 corroborated by 2+ sources
SGMS2(5)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Hamamy syndrome Hypertelorism, severe, with midface prominence, myopia, intellectual developmental disorder, and bone fragility
1 gene
Show details
IRX5(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 345 →
Bone fragility with contractures, arterial rupture, and deafness Recurrent fractures
2 genes
Show details
2 of 2 corroborated by 2+ sources
COPB2(2), WNT11(2)
0.040 1.000 9.81e-6 5.31e-5 ✓ sig. —
Bone fragility with contractures, arterial rupture, and deafness Cole-carpenter syndrome
3 genes
Show details
3 of 3 corroborated by 2+ sources
CRTAP(3), P4HB(7), SEC24D(7)
0.060 1.000 2.98e-8 2.22e-7 ✓ sig. Cluster 115 →
Bone fragility with contractures, arterial rupture, and deafness Skeletal dysplasia
8 genes
Show details
8 of 8 corroborated by 2+ sources
GORAB(2), COL1A1(2), SLC10A7(2), PLOD2(2), COL1A2(2), CHST3(3), B4GALT7(2), SERPINH1(2)
0.095 0.190 5.99e-13 6.52e-12 ✓ sig. Cluster 115 →
Bone fragility with contractures, arterial rupture, and deafness Osteoporosis
12 genes
Show details
12 of 12 corroborated by 2+ sources
GORAB(2), SERPINF1(2), COL1A1(4), COL1A2(3), WNT1(6), LRP5(8), COPB2(6), WNT11(2), IFITM5(2), P4HB(2), PLS3(3), SP7(2)
0.060 0.245 6.97e-14 7.95e-13 ✓ sig. —
Bone fragility with contractures, arterial rupture, and deafness Larsen syndrome
9 genes
Show details
3 of 9 corroborated by 2+ sources
GORAB(1), XYLT1(1), P4HA1(1), CHST3(3), XYLT2(1), B3GALT6(1), B3GAT3(5), B4GALT7(1), PLOD3(3)
0.155 0.529 3.48e-19 4.94e-18 ✓ sig. Cluster 115 →
Bone fragility with contractures, arterial rupture, and deafness Desbuquois syndrome
38 genes
Show details
1 of 38 corroborated by 2+ sources
ALPL(1), BMP1(1), CCDC134(1), GORAB(1), NBAS(1), SERPINF1(1), TENT5A(1), XYLT1(3), COL1A1(1), SLC10A7(1), PLOD2(1), FKBP10(1) +26 more
0.066 0.776 1.34e-45 3.40e-44 ✓ sig. —
Bone fragility with contractures, arterial rupture, and deafness Osteogenesis imperfecta
30 genes
Show details
30 of 30 corroborated by 2+ sources
ALPL(2), BMP1(7), CCDC134(6), SERPINF1(7), TENT5A(6), COL1A1(8), PLOD2(3), FKBP10(6), COL1A2(8), CRTAP(7), KDELR2(6), KIF5B(2) +18 more
0.492 0.732 3.20e-71 1.06e-69 ✓ sig. Cluster 115 →
Bone fragility with contractures, arterial rupture, and deafness Osteoporosis-pseudoglioma syndrome
49 genes
Show details
2 of 49 corroborated by 2+ sources
ALPL(1), BMP1(1), CCDC134(1), GORAB(1), NBAS(1), SERPINF1(1), TENT5A(1), XYLT1(1), AMBN(1), SEC16B(1), COL1A1(1), SLC10A7(1) +37 more
0.980 1.000 3.22e-143 1.76e-141 ✓ sig. Cluster 115 →

Showing 16 of 41 matching pairs, sorted by significance (descending). Click a column header to sort.