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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
Bilateral microphthalmos Progressive retinal dystrophy due to retinol transport defect
1 gene
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1 of 1 corroborated by 2+ sources
RBP4(2)
0.167 1.000 3.23e-4 6.41e-4 ✓ sig. —
Butterfly-shaped pigmentary macular dystrophy Retinal dystrophy, early-onset, with or without pituitary dysfunction
1 gene
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1 of 1 corroborated by 2+ sources
OTX2(3)
0.167 1.000 3.23e-4 6.41e-4 ✓ sig. Cluster 415 →
Bilateral microphthalmos Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RBP4(2)
0.167 1.000 3.23e-4 6.41e-4 ✓ sig. —
Progressive retinal dystrophy due to retinol transport defect Vitamin a deficiency
1 gene
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1 of 1 corroborated by 2+ sources
RBP4(3)
0.167 1.000 3.23e-4 6.41e-4 ✓ sig. —
Bothnia retinal dystrophy Retinitis punctata albescens
1 gene
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1 of 1 corroborated by 2+ sources
RLBP1(7)
0.143 1.000 3.87e-4 7.33e-4 ✓ sig. —
Neurodevelopmental delay Retinal dystrophy, juvenile cataracts, and short stature syndrome
1 gene
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RDH11(1)
0.143 1.000 3.87e-4 7.33e-4 ✓ sig. —
Exudative retinopathy Retinal dystrophy with or without extraocular anomalies
1 gene
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1 of 1 corroborated by 2+ sources
RCBTB1(2)
0.125 1.000 4.52e-4 8.26e-4 ✓ sig. Cluster 256 →
Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome Mucolipidosis
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(2)
0.125 1.000 4.52e-4 8.26e-4 ✓ sig. Cluster 76 →
Mucolipidosis Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(2)
0.125 1.000 4.52e-4 8.26e-4 ✓ sig. Cluster 76 →
Doyne honeycomb retinal dystrophy Factor i deficiency
1 gene
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1 of 1 corroborated by 2+ sources
CFI(3)
0.167 0.500 5.16e-4 9.13e-4 ✓ sig. —
Doyne honeycomb retinal dystrophy Retinitis pigmentosa, digenic
1 gene
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PRPH2(1)
0.167 0.500 5.16e-4 9.13e-4 ✓ sig. —
Corneal ulcer Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ALPK1(3)
0.100 1.000 5.81e-4 1.00e-3 ✓ sig. —
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy Male infertility globozoospermia
1 gene
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1 of 1 corroborated by 2+ sources
PPP2R3C(2)
0.100 1.000 5.81e-4 1.00e-3 ✓ sig. —
Exudative vitreoretinopathy Retinal dystrophy with or without extraocular anomalies
1 gene
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1 of 1 corroborated by 2+ sources
RCBTB1(2)
0.077 1.000 7.75e-4 1.25e-3 ✓ sig. Cluster 256 →
Retinal dystrophy with or without macular staphyloma Spondylometaphyseal dysplasia
1 gene
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1 of 1 corroborated by 2+ sources
CFAP410(3)
0.067 1.000 9.04e-4 1.41e-3 ✓ sig. —
Nephrosclerosis Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ALPK1(4)
0.067 1.000 9.04e-4 1.41e-3 ✓ sig. —
Bietti crystalline corneoretinal dystrophy Choroideremia
1 gene
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1 of 1 corroborated by 2+ sources
CYP4V2(7)
0.125 0.333 9.68e-4 1.50e-3 ✓ sig. —
Gouty arthritis Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ALPK1(3)
0.063 1.000 9.68e-4 1.50e-3 ✓ sig. —
Abnormal muscle physiology Retinal dystrophy
1 gene
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POC5(1)
0.056 1.000 1.10e-3 1.65e-3 ✓ sig. —
Axonal neuropathy and neurodevelopmental disorder (digfan syndrome) Retinal dystrophy
1 gene
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MORC2(1)
0.056 1.000 1.10e-3 1.65e-3 ✓ sig. —
Charcot-Marie-Tooth disease axonal type 2Z Retinal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
MORC2(2)
0.056 1.000 1.10e-3 1.65e-3 ✓ sig. —
Fetal anomalies Retinal dystrophy
1 gene
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SCLT1(1)
0.056 1.000 1.10e-3 1.65e-3 ✓ sig. —
Maternally-inherited diabetes and deafness Retinal dystrophy
1 gene
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TRNL1(1)
0.056 1.000 1.10e-3 1.65e-3 ✓ sig. —
Mucopolysaccharidosis type 3A Retinal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
SGSH(2)
0.056 1.000 1.10e-3 1.65e-3 ✓ sig. —
Mucopolysaccharidosis type iiia (sanfilippo a) Retinal dystrophy
1 gene
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SGSH(1)
0.056 1.000 1.10e-3 1.65e-3 ✓ sig. —

Showing 25 of 143 matching pairs, sorted by significance (ascending). Click a column header to sort.