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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
Doyne honeycomb degeneration of retina Doyne honeycomb retinal dystrophy
1 gene
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1 of 1 corroborated by 2+ sources
EFEMP1(7)
0.200 1.000 2.58e-4 5.38e-4 ✓ sig. Cluster 103 →
Microphthalmia, isolated, with coloboma Progressive retinal dystrophy due to retinol transport defect
1 gene
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1 of 1 corroborated by 2+ sources
RBP4(2)
0.200 1.000 2.58e-4 5.38e-4 ✓ sig. —
Patterned 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(2)
0.200 1.000 2.58e-4 5.38e-4 ✓ sig. Cluster 415 →
Microphthalmia, isolated, with coloboma Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
1 gene
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RBP4(1)
0.200 1.000 2.58e-4 5.38e-4 ✓ sig. —
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome X-linked nonsyndromic hearing loss
1 gene
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1 of 1 corroborated by 2+ sources
PRPS1(3)
0.200 1.000 2.58e-4 5.38e-4 ✓ sig. Cluster 347 →
Atrophic retina Bietti crystalline corneoretinal dystrophy
1 gene
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ABCA4(1)
0.250 1.000 1.94e-4 4.41e-4 ✓ sig. —
Bietti crystalline corneoretinal dystrophy Fundus flavimaculatus
1 gene
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1 of 1 corroborated by 2+ sources
ABCA4(2)
0.250 1.000 1.94e-4 4.41e-4 ✓ sig. —
Bietti crystalline corneoretinal dystrophy Congenital prekallikrein deficiency
1 gene
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1 of 1 corroborated by 2+ sources
KLKB1(3)
0.250 1.000 1.94e-4 4.41e-4 ✓ sig. Cluster 566 →
Bietti crystalline corneoretinal dystrophy Inherited prekallikrein deficiency
1 gene
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1 of 1 corroborated by 2+ sources
KLKB1(2)
0.250 1.000 1.94e-4 4.41e-4 ✓ sig. Cluster 566 →
Bietti crystalline corneoretinal dystrophy Coagulation disorder
1 gene
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1 of 1 corroborated by 2+ sources
KLKB1(2)
0.250 1.000 1.94e-4 4.41e-4 ✓ sig. Cluster 566 →
Bietti crystalline corneoretinal dystrophy Fletcher factor (prekallikrein) deficiency
1 gene
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1 of 1 corroborated by 2+ sources
KLKB1(2)
0.250 1.000 1.94e-4 4.41e-4 ✓ sig. Cluster 566 →
Ataxia with deafness and vision loss X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
1 gene
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PRPS1(1)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. Cluster 347 →
Bothnia retinal dystrophy Fundus albipunctatus
1 gene
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1 of 1 corroborated by 2+ sources
RLBP1(7)
0.333 1.000 1.29e-4 3.27e-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 and hypogonadotropic hypogonadism Retinal dystrophy-ataxia-pituitary hormone abnormality-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 →
Coats disease Retinal dystrophy with or without extraocular anomalies
1 gene
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RCBTB1(1)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. Cluster 256 →
Congenital hypoplasia of femur Mental retardation, truncal obesity, retinal dystrophy, and micropenis
1 gene
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1 of 1 corroborated by 2+ sources
INPP5E(3)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. Cluster 329 →
Congenital hypoplasia of femur Intellectual development disorder, truncal obesity, retinal dystrophy, and micropenis
1 gene
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1 of 1 corroborated by 2+ sources
INPP5E(2)
0.333 1.000 1.29e-4 3.27e-4 ✓ sig. Cluster 329 →
Retinal dystrophy, juvenile cataracts, and short stature syndrome Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome
1 gene
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1 of 1 corroborated by 2+ sources
RDH11(4)
0.333 1.000 1.29e-4 3.27e-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. —
Abri amyloidosis 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. —
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. —
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. —
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 →

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