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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
Phosphoribosylpyrophosphate synthetase superactivity 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(5)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 347 →
Progressive retinal dystrophy due to retinol transport defect Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
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. —
PRPS1 deficiency disorder 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(2)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 347 →
Retinal dystrophy-ataxia-pituitary hormone abnormality-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 →
Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome Spastic paraplegia with or without ataxia
1 gene
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PNPLA6(1)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. Cluster 76 →
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome Rosah syndrome
1 gene
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1 of 1 corroborated by 2+ sources
ALPK1(2)
0.500 1.000 6.46e-5 1.98e-4 ✓ sig. —
Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome Spastic paraplegia 39, autosomal recessive
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 →
Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome Spastic paraplegia 39, autosomal recessive
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 →
Dominant retinopathy Retinal dystrophy
2 genes
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2 of 2 corroborated by 2+ sources
RPE65(2), SNRNP200(2)
0.087 0.286 2.37e-5 1.24e-4 ✓ sig. —
Inherited retinal dystrophy Night blindness, congenital stationary
3 genes
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3 of 3 corroborated by 2+ sources
PDE6B(8), GNAT1(7), SLC24A1(6)
0.070 0.167 3.79e-6 2.14e-5 ✓ sig. —
Bietti crystalline corneoretinal dystrophy Hereditary corneal dystrophy
2 genes
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1 of 2 corroborated by 2+ sources
CYP4V2(7), KLKB1(1)
0.143 0.667 1.65e-6 9.79e-6 ✓ sig. —
Atypical hemolytic uremic syndrome Doyne honeycomb retinal dystrophy
2 genes
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2 of 2 corroborated by 2+ sources
CFI(3), CFH(4)
0.200 0.500 1.05e-6 6.38e-6 ✓ sig. —
Inherited retinal dystrophy Oguchi disease
3 genes
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3 of 3 corroborated by 2+ sources
PDE6B(2), GNAT1(2), SLC24A1(2)
0.100 0.214 4.76e-7 3.04e-6 ✓ sig. —
Nystagmus Retinal dystrophy
4 genes
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4 of 4 corroborated by 2+ sources
RPGRIP1(3), RPE65(3), SCLT1(2), SGSH(2)
0.067 0.235 1.58e-7 1.07e-6 ✓ sig. —
Doyne honeycomb retinal dystrophy Thrombotic microangiopathy
2 genes
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1 of 2 corroborated by 2+ sources
CFI(1), CFH(2)
0.333 0.667 1.50e-7 1.02e-6 ✓ sig. —
Inherited retinal dystrophy Stargardt disease
4 genes
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4 of 4 corroborated by 2+ sources
LRAT(2), CRB1(2), SPATA7(2), KCNV2(2)
0.093 0.222 2.57e-8 1.92e-7 ✓ sig. —
Inherited retinal dystrophy Leber congenital amaurosis
6 genes
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6 of 6 corroborated by 2+ sources
LRAT(8), PDE6B(2), CRB1(8), SPATA7(9), NR2E3(2), KCNJ13(8)
0.070 0.333 1.58e-10 1.45e-9 ✓ sig. —
Cone-rod dystrophy Retinal dystrophy
6 genes
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6 of 6 corroborated by 2+ sources
RPGRIP1(7), RPE65(2), CLN3(2), SCLT1(2), ARL6(2), GUCA1B(2)
0.068 0.353 1.35e-10 1.25e-9 ✓ sig. —

Showing 18 of 143 matching pairs, sorted by significance (descending). Click a column header to sort.