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Enhanced s-cone syndrome
Enhanced s-cone syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
enhanced S-cone syndrome
MONDO_0100288
NR2E3
Causal
10655056
11071390
12963616
15459973
16225923
18294254
19006237
24069298
ClinGen
,
Open Targets
Nuclear Receptor transcription pathway
All
1
Causal
1
Unknown
0
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
1
Open Targets
1
Related Diseases
Diseases that share the most curated genes with Enhanced s-cone syndrome.
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Goldmann-favre syndrome
1 shared gene
NR2E3
Related via 1 shared gene including NR2E3.
Inherited retinal dystrophy
1 shared gene
NR2E3
Related via 1 shared gene including NR2E3.
Leber congenital amaurosis
1 shared gene
NR2E3
Related via 1 shared gene including NR2E3.
Cone-rod dystrophy
1 shared gene
NR2E3
Related via 1 shared gene including NR2E3.
Optic atrophy
1 shared gene
NR2E3
Related via 1 shared gene including NR2E3.
1
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