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PubMed:22419846 JSONTXT

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Allie

Id Subject Object Predicate Lexical cue
SS1_22419846_6_0 539-558 expanded denotes electroretinography
SS2_22419846_6_0 560-563 abbr denotes ERG
SS1_22419846_8_0 695-721 expanded denotes Quantitative real-time PCR
SS2_22419846_8_0 723-727 abbr denotes qPCR
AE1_22419846_6_0 SS1_22419846_6_0 SS2_22419846_6_0 abbreviatedTo electroretinography,ERG
AE1_22419846_8_0 SS1_22419846_8_0 SS2_22419846_8_0 abbreviatedTo Quantitative real-time PCR,qPCR

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 155-174 HP_0000007 denotes autosomal recessive

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
22419846-15#38#43#geners201153410 2045-2050 geners201153410 denotes R193X
22419846-15#145#161#diseaseC1306122 2152-2168 diseaseC1306122 denotes Oguchi's disease
38#43#geners201153410145#161#diseaseC1306122 22419846-15#38#43#geners201153410 22419846-15#145#161#diseaseC1306122 associated_with R193X,Oguchi's disease

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
22419846-0#104#112#gene6295 2106-2272 gene6295 denotes assing exon 2 in the SAG gene is the cause of Oguchi's disease in this Chinese family. qPCR analysis should be performed if there is a negative result of the mutation
22419846-0#22#38#diseaseC1306122 451-467 diseaseC1306122 denotes Oguchi's disease
22419846-1#98#114#gene6011 226-242 gene6011 denotes rhodopsin kinase
22419846-1#116#120#gene6011 244-248 gene6011 denotes GRK1
22419846-1#0#16#diseaseC1306122 128-144 diseaseC1306122 denotes Oguchi's disease
104#112#gene629522#38#diseaseC1306122 22419846-0#104#112#gene6295 22419846-0#22#38#diseaseC1306122 associated_with assing exon 2 in the SAG gene is the cause of Oguchi's disease in this Chinese family. qPCR analysis should be performed if there is a negative result of the mutation,Oguchi's disease
98#114#gene60110#16#diseaseC1306122 22419846-1#98#114#gene6011 22419846-1#0#16#diseaseC1306122 associated_with rhodopsin kinase,Oguchi's disease
116#120#gene60110#16#diseaseC1306122 22419846-1#116#120#gene6011 22419846-1#0#16#diseaseC1306122 associated_with GRK1,Oguchi's disease