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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
Microphthalmia, isolated, with coloboma 10 Progressive retinal dystrophy due to retinol transport defect
1 gene
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1 of 1 corroborated by 2+ sources
RBP4(2)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Laurence-moon syndrome Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(2)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 76 →
Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome Laurence-moon syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(3)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 76 →
Joubert syndrome 1 Mental retardation, truncal obesity, retinal dystrophy, and micropenis
1 gene
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1 of 1 corroborated by 2+ sources
INPP5E(2)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 329 →
Intellectual development disorder, truncal obesity, retinal dystrophy, and micropenis Mental retardation, truncal obesity, retinal dystrophy, and micropenis
1 gene
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1 of 1 corroborated by 2+ sources
INPP5E(2)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 329 →
Intellectual development disorder, truncal obesity, retinal dystrophy, and micropenis Joubert syndrome 1
1 gene
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1 of 1 corroborated by 2+ sources
INPP5E(2)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 329 →
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy Xy gonadal dysgenesis syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PPP2R3C(2)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Familial danish dementia Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities
1 gene
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1 of 1 corroborated by 2+ sources
ITM2B(2)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Ectopic posterior pituitary Retinal dystrophy, early-onset, with or without pituitary dysfunction
1 gene
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OTX2(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 415 →
Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome Spastic paraplegia with or without ataxia
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(3)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 76 →
Boucher-neuhauser syndrome Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(3)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 76 →
Ataxia-hypogonadism-choroidal dystrophy syndrome Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(4)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 76 →
Ataxia-hypogonadism-choroidal dystrophy syndrome Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(4)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 76 →
Arts syndrome X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PRPS1(6)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 347 →
Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(5)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 76 →
Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(3)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 76 →
Agnathia-holoprosencephaly-situs inversus syndrome Retinal dystrophy, early-onset, with or without pituitary dysfunction
1 gene
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OTX2(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 415 →
Cerebellar dysplasia with cysts with or without retinal dystrophy Poretti-boltshauser syndrome
1 gene
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LAMA1(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 564 →
Axial spondylometaphyseal dysplasia Retinal dystrophy with or without macular staphyloma
1 gene
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1 of 1 corroborated by 2+ sources
CFAP410(3)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Acbd5 deficiency Retinal dystrophy with leukodystrophy
1 gene
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ACBD5(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Boucher-neuhauser syndrome Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(4)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 76 →
Acyl-coa binding domain containing protein 5 deficiency Retinal dystrophy with leukodystrophy
1 gene
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1 of 1 corroborated by 2+ sources
ACBD5(3)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Inherited retinal dystrophy Nanophthalmos
2 genes
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2 of 2 corroborated by 2+ sources
CRB1(2), C1QTNF5(2)
0.069 0.167 8.36e-5 2.56e-4 ✓ sig. —
Cerebellar ataxia and hypogonadotropic hypogonadism Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome
1 gene
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1 of 1 corroborated by 2+ sources
PNPLA6(3)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. Cluster 76 →
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts Cerebellar dysplasia with cysts with or without retinal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
LAMA1(2)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. Cluster 564 →

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