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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
Dermatologic disorder optic atrophy 13 with retinal and foveal abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
SSBP1(2)
0.014 1.000 4.42e-3 5.53e-3 ✓ sig. Cluster 29 →
Bone fracture Caudal duplication anomaly
1 gene
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1 of 1 corroborated by 2+ sources
AXIN1(6)
0.014 1.000 4.42e-3 5.53e-3 ✓ sig. —
Childhood-onset sensorineural hearing impairment Combined oxidative phosphorylation deficiency
1 gene
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1 of 1 corroborated by 2+ sources
PRORP(4)
0.014 1.000 4.42e-3 5.53e-3 ✓ sig. —
Chondrodysplasia-difference of sex development syndrome Nervous system disease
1 gene
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1 of 1 corroborated by 2+ sources
HHAT(2)
0.014 1.000 4.42e-3 5.53e-3 ✓ sig. —
Chondrodysplasia-pseudohypohermaphroditism syndrome Nervous system disease
1 gene
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1 of 1 corroborated by 2+ sources
HHAT(2)
0.014 1.000 4.42e-3 5.53e-3 ✓ sig. —
Combined oxidative phosphorylation deficiency Hepatoencephalopathy due to combined oxidative phosphorylation defect
1 gene
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1 of 1 corroborated by 2+ sources
GFM1(6)
0.014 1.000 4.42e-3 5.53e-3 ✓ sig. —
Albinism Bone fracture
1 gene
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1 of 1 corroborated by 2+ sources
TPCN2(2)
0.014 1.000 4.42e-3 5.53e-3 ✓ sig. —
Dermatologic disorder Intellectual developmental disorder language neurodegenerative
1 gene
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1 of 1 corroborated by 2+ sources
NR4A2(4)
0.014 1.000 4.42e-3 5.53e-3 ✓ sig. —
mucopolysaccharidosis type 7 Nervous system disease
1 gene
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1 of 1 corroborated by 2+ sources
GUSB(3)
0.014 1.000 4.42e-3 5.53e-3 ✓ sig. —
Bone fracture Mucosulfatidosis
1 gene
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1 of 1 corroborated by 2+ sources
SUMF1(3)
0.014 1.000 4.42e-3 5.53e-3 ✓ sig. —
Bone fracture Parkinsonism with polyneuropathy
1 gene
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1 of 1 corroborated by 2+ sources
UQCRC1(4)
0.014 1.000 4.42e-3 5.53e-3 ✓ sig. Cluster 299 →
Combined oxidative phosphorylation deficiency Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
1 gene
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1 of 1 corroborated by 2+ sources
TRMT5(6)
0.014 1.000 4.42e-3 5.53e-3 ✓ sig. Cluster 50 →
Folic acid deficiency Nervous system disease
1 gene
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1 of 1 corroborated by 2+ sources
DHFR(2)
0.014 1.000 4.42e-3 5.53e-3 ✓ sig. —
Combined oxidative phosphorylation deficiency Spastic ataxia with leukoencephalopathy
1 gene
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1 of 1 corroborated by 2+ sources
MARS2(6)
0.014 1.000 4.42e-3 5.53e-3 ✓ sig. —
Bone fracture temtamy preaxial brachydactyly syndrome
1 gene
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1 of 1 corroborated by 2+ sources
CHSY1(2)
0.014 1.000 4.42e-3 5.53e-3 ✓ sig. Cluster 299 →
Macular degeneration RLBP1-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RLBP1(3)
0.015 1.000 4.35e-3 5.46e-3 ✓ sig. —
Macular degeneration Schmid metaphyseal chondrodysplasia
1 gene
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1 of 1 corroborated by 2+ sources
COL10A1(2)
0.015 1.000 4.35e-3 5.46e-3 ✓ sig. —
Hirschsprung disease schuurs-hoeijmakers syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PACS1(2)
0.015 1.000 4.35e-3 5.46e-3 ✓ sig. —
Meniere disease Short stature spectrum
1 gene
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1 of 1 corroborated by 2+ sources
ACAN(3)
0.015 1.000 4.35e-3 5.46e-3 ✓ sig. —
Macular degeneration sorsby fundus dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
TIMP3(3)
0.015 1.000 4.35e-3 5.46e-3 ✓ sig. —
Hirschsprung disease oligodontia-cancer predisposition syndrome
1 gene
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1 of 1 corroborated by 2+ sources
AXIN2(2)
0.015 1.000 4.35e-3 5.46e-3 ✓ sig. —
Hirschsprung disease TMEM165-congenital disorder of glycosylation
1 gene
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1 of 1 corroborated by 2+ sources
TMEM165(2)
0.015 1.000 4.35e-3 5.46e-3 ✓ sig. —
Macular degeneration TOPORS-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
TOPORS(2)
0.015 1.000 4.35e-3 5.46e-3 ✓ sig. —
Hirschsprung disease Urban-schosser-spohr syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SREBF1(3)
0.015 1.000 4.35e-3 5.46e-3 ✓ sig. —
Bothnia retinal dystrophy Macular degeneration
1 gene
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1 of 1 corroborated by 2+ sources
RLBP1(6)
0.015 1.000 4.35e-3 5.46e-3 ✓ sig. —

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