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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
Congenital merosin-deficient muscular dystrophy Polymicrogyria
1 gene
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1 of 1 corroborated by 2+ sources
LAMA2(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Night blindness, congenital stationary retinitis pigmentosa 47
1 gene
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1 of 1 corroborated by 2+ sources
SAG(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. Cluster 151 →
Right hypoplastic heart syndrome Ventricular remodeling
1 gene
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1 of 1 corroborated by 2+ sources
TBX20(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Night blindness, congenital stationary RLBP1-related retinopathy
1 gene
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1 of 1 corroborated by 2+ sources
RLBP1(2)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Short stature spectrum Spondyloepimetaphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
ACAN(7)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. Cluster 211 →
Spondyloepimetaphyseal dysplasia spondyloepimetaphyseal dysplasia with joint laxity, type 3
1 gene
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1 of 1 corroborated by 2+ sources
EXOC6B(5)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. Cluster 211 →
Spondyloepimetaphyseal dysplasia spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
1 gene
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1 of 1 corroborated by 2+ sources
DDR2(5)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. —
Spondyloepimetaphyseal dysplasia spondyloepimetaphyseal dysplasia, genevieve type
1 gene
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1 of 1 corroborated by 2+ sources
NANS(6)
0.038 1.000 1.62e-3 2.46e-3 ✓ sig. Cluster 211 →
Auditory neuropathy Hypomyelinating leukodystrophy
2 genes
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2 of 2 corroborated by 2+ sources
TUBB4A(4), ATP11A(4)
0.033 0.067 1.65e-3 2.50e-3 ✓ sig. —
Osteonecrosis Williams syndrome
2 genes
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2 of 2 corroborated by 2+ sources
CLIP2(3), GTF2IRD1(4)
0.032 0.083 1.67e-3 2.52e-3 ✓ sig. —
Costello syndrome Noonan syndrome-like disorder with loose anagen hair
1 gene
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1 of 1 corroborated by 2+ sources
SHOC2(2)
0.067 0.500 1.69e-3 2.53e-3 ✓ sig. Cluster 42 →
Benign recurrent intrahepatic cholestasis Pruritus
1 gene
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1 of 1 corroborated by 2+ sources
ABCB11(4)
0.067 0.500 1.69e-3 2.53e-3 ✓ sig. —
Congenital abnormalities Townes-brocks syndrome
1 gene
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1 of 1 corroborated by 2+ sources
SALL1(7)
0.067 0.500 1.69e-3 2.53e-3 ✓ sig. —
Congenital abnormalities Xq27.3 q28 duplication syndrome
1 gene
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1 of 1 corroborated by 2+ sources
FMR1(3)
0.067 0.500 1.69e-3 2.53e-3 ✓ sig. —
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Maturity-onset diabetes of the young
1 gene
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1 of 1 corroborated by 2+ sources
HNF4A(6)
0.067 0.500 1.69e-3 2.53e-3 ✓ sig. —
Genitourinary disease Malunion fracture
1 gene
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BCAS3(1)
0.067 0.500 1.69e-3 2.53e-3 ✓ sig. Cluster 287 →
Gm1 gangliosidosis Progressive intrahepatic cholestasis
1 gene
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1 of 1 corroborated by 2+ sources
GLB1(6)
0.067 0.500 1.69e-3 2.53e-3 ✓ sig. —
Growth hormone insensitivity, partial Pseudohypoparathyroidism
1 gene
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1 of 1 corroborated by 2+ sources
GHSR(2)
0.067 0.500 1.69e-3 2.53e-3 ✓ sig. —
Birt-hogg-dube syndrome Omphalocele exstrophy imperforate anus
1 gene
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1 of 1 corroborated by 2+ sources
FLCN(7)
0.067 0.500 1.69e-3 2.53e-3 ✓ sig. —
Blepharitis Oculocutaneous albinism
1 gene
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1 of 1 corroborated by 2+ sources
MC1R(5)
0.067 0.500 1.69e-3 2.53e-3 ✓ sig. —
Breast fibrocystic disease Vertebral column disorder
1 gene
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CSMD1(1)
0.067 0.500 1.69e-3 2.53e-3 ✓ sig. —
Cerebral folate deficiency Congenital abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
FOLR1(3)
0.067 0.500 1.69e-3 2.53e-3 ✓ sig. —
Chronic progressive external ophthalmoplegia Progressive external ophthalmoplegia
1 gene
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1 of 1 corroborated by 2+ sources
RRM2B(4)
0.067 0.500 1.69e-3 2.53e-3 ✓ sig. —
Peho syndrome Sensory neuropathy
1 gene
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1 of 1 corroborated by 2+ sources
KIF1A(2)
0.067 0.500 1.69e-3 2.53e-3 ✓ sig. Cluster 169 →
Essential thrombocythemia Periapical periodontitis
1 gene
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1 of 1 corroborated by 2+ sources
FGF2(2)
0.067 0.500 1.69e-3 2.53e-3 ✓ sig. —

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