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
phosphoribosylpyrophosphate synthetase superactivity Prpp synthetase superactivity
1 gene
Show details
1 of 1 corroborated by 2+ sources
PRPS1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 257 →
phosphoribosylpyrophosphate synthetase superactivity X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
1 gene
Show details
1 of 1 corroborated by 2+ sources
PRPS1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 257 →
phosphoribosylpyrophosphate synthetase superactivity PRPS1 deficiency disorder
1 gene
Show details
PRPS1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 257 →
PIK3R1-related immunodeficiency and SHORT syndrome Short syndrome
1 gene
Show details
1 of 1 corroborated by 2+ sources
PIK3R1(6)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
platelet-type bleeding disorder 12 Sleep deprivation
1 gene
Show details
1 of 1 corroborated by 2+ sources
PTGS1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
platelet-type bleeding disorder 17 Thrombasthenia-thrombocytopenia
1 gene
Show details
1 of 1 corroborated by 2+ sources
GFI1B(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
platelet-type bleeding disorder 20 Thrombocytopenia with platelet secretion defect
1 gene
Show details
1 of 1 corroborated by 2+ sources
SLFN14(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Collagenopathy platyspondylic dysplasia, Torrance type
1 gene
Show details
1 of 1 corroborated by 2+ sources
COL2A1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
Coxa plana platyspondylic dysplasia, Torrance type
1 gene
Show details
1 of 1 corroborated by 2+ sources
COL2A1(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
Czech dysplasia platyspondylic dysplasia, Torrance type
1 gene
Show details
1 of 1 corroborated by 2+ sources
COL2A1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
Dysspondyloenchondromatosis platyspondylic dysplasia, Torrance type
1 gene
Show details
1 of 1 corroborated by 2+ sources
COL2A1(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
kniest dysplasia platyspondylic dysplasia, Torrance type
1 gene
Show details
COL2A1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 11 →
PNPLA6-related spastic paraplegia with or without ataxia Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
1 gene
Show details
1 of 1 corroborated by 2+ sources
PNPLA6(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 91 →
PNPLA6-related spastic paraplegia with or without ataxia retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome
1 gene
Show details
PNPLA6(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 91 →
POLR3A-related disorder Wiedemann-rautenstrauch syndrome
1 gene
Show details
1 of 1 corroborated by 2+ sources
POLR3A(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
polycystic liver disease 4 with or without kidney cysts Worth syndrome
1 gene
Show details
1 of 1 corroborated by 2+ sources
LRP5(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 98 →
Potassium-aggravated myotonia SCN4A-related myopathy, autosomal recessive
1 gene
Show details
1 of 1 corroborated by 2+ sources
SCN4A(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 163 →
Preaxial polydactyly with upper back hypertrichosis Skeletal system disorder
1 gene
Show details
1 of 1 corroborated by 2+ sources
SHH(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 232 →
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome sinoatrial node dysfunction and deafness
1 gene
Show details
1 of 1 corroborated by 2+ sources
CACNA1D(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 361 →
Primary hypomagnesemia with hypocalciuria renal hypomagnesemia 2
1 gene
Show details
1 of 1 corroborated by 2+ sources
FXYD2(2)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Progressive contractures limb-girdle weakness muscle dystrophy syndrome tibial muscular dystrophy
1 gene
Show details
1 of 1 corroborated by 2+ sources
TTN(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 221 →
Progressive contractures limb-girdle weakness muscle dystrophy syndrome TTN-related myopathy, dominant-negative TTNsv
1 gene
Show details
1 of 1 corroborated by 2+ sources
TTN(4)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 221 →
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome Sensorineural hearing loss thrombocytopenia syndrome
1 gene
Show details
1 of 1 corroborated by 2+ sources
DIAPH1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
PROM1-related dominant retinopathy PROM1-related recessive retinopathy
1 gene
Show details
PROM1(1)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. —
Prpp synthetase superactivity X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
1 gene
Show details
1 of 1 corroborated by 2+ sources
PRPS1(3)
0.500 1.000 6.49e-5 2.33e-4 ✓ sig. Cluster 257 →

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