Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
0.020 Biomarker phenotype LHGDN Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. 12963616 2003
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
0.020 GeneticVariation phenotype LHGDN In 16 ESCS patients with the most common NR2E3 mutation, R311Q, we documented an abnormal ratio of S to L/M cone function and progressive retinal degeneration. 11773633 2002