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PubMed:17265047 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 19-24 gene:54714 denotes CNGB3
T1 0-13 disease:C0152200 denotes Achromatopsia
T2 1261-1266 gene:54714 denotes CNGB3
T3 1324-1337 disease:C0152200 denotes achromatopsia
R1 T0 T1 associated_with CNGB3,Achromatopsia
R2 T2 T3 associated_with CNGB3,achromatopsia

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 167-180 HP_0011516 denotes Achromatopsia
T2 191-207 HP_0011516 denotes rod monochromacy
T3 195-207 HP_0007803 denotes monochromacy
T4 214-233 HP_0000007 denotes autosomal recessive
T5 264-280 HP_0000479 denotes retinal disorder
T6 264-280 HP_0007901 denotes retinal disorder
T7 337-355 HP_0007663 denotes poor visual acuity
T8 392-401 HP_0000639 denotes nystagmus
T9 768-781 HP_0011516 denotes achromatopsia
T10 890-909 HP_0000007 denotes autosomal recessive
T11 951-964 HP_0011516 denotes achromatopsia
T12 1324-1337 HP_0011516 denotes achromatopsia
T13 1571-1584 HP_0011516 denotes achromatopsia
T1 167-180 HP_0011516 denotes Achromatopsia
T2 191-207 HP_0011516 denotes rod monochromacy
T3 195-207 HP_0007803 denotes monochromacy
T4 214-233 HP_0000007 denotes autosomal recessive
T5 264-280 HP_0000479 denotes retinal disorder
T6 264-280 HP_0007901 denotes retinal disorder
T7 337-355 HP_0007663 denotes poor visual acuity
T8 392-401 HP_0000639 denotes nystagmus
T9 768-781 HP_0011516 denotes achromatopsia
T10 890-909 HP_0000007 denotes autosomal recessive
T11 951-964 HP_0011516 denotes achromatopsia
T12 1324-1337 HP_0011516 denotes achromatopsia
T13 1571-1584 HP_0011516 denotes achromatopsia

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
17265047-0#25#33#geners867058703 25-33 geners867058703 denotes p.T383fs
17265047-0#0#13#diseaseC0152200 0-13 diseaseC0152200 denotes Achromatopsia
17265047-0#0#13#diseaseC0302129 0-13 diseaseC0302129 denotes Achromatopsia
25#33#geners8670587030#13#diseaseC0152200 17265047-0#25#33#geners867058703 17265047-0#0#13#diseaseC0152200 associated_with p.T383fs,Achromatopsia
25#33#geners8670587030#13#diseaseC0302129 17265047-0#25#33#geners867058703 17265047-0#0#13#diseaseC0302129 associated_with p.T383fs,Achromatopsia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
17265047-0#19#24#gene54714 19-24 gene54714 denotes CNGB3
17265047-0#0#13#diseaseC0152200 0-13 diseaseC0152200 denotes Achromatopsia
17265047-0#0#13#diseaseC0302129 0-13 diseaseC0302129 denotes Achromatopsia
17265047-8#17#22#gene1261 1497-1502 gene1261 denotes CNGA3
17265047-8#91#104#diseaseC0152200 1571-1584 diseaseC0152200 denotes achromatopsia
17265047-8#91#104#diseaseC0302129 1571-1584 diseaseC0302129 denotes achromatopsia
19#24#gene547140#13#diseaseC0152200 17265047-0#19#24#gene54714 17265047-0#0#13#diseaseC0152200 associated_with CNGB3,Achromatopsia
19#24#gene547140#13#diseaseC0302129 17265047-0#19#24#gene54714 17265047-0#0#13#diseaseC0302129 associated_with CNGB3,Achromatopsia
17#22#gene126191#104#diseaseC0152200 17265047-8#17#22#gene1261 17265047-8#91#104#diseaseC0152200 associated_with CNGA3,achromatopsia
17#22#gene126191#104#diseaseC0302129 17265047-8#17#22#gene1261 17265047-8#91#104#diseaseC0302129 associated_with CNGA3,achromatopsia