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PubMed:1775313 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-85 Sentence denotes Rhodopsin Thr58Arg mutation in a family with autosomal dominant retinitis pigmentosa.
TextSentencer_T2 86-263 Sentence denotes The authors report a family in which a Thr58Arg rhodopsin mutation co-segregates with the disease phenotype of autosomal dominant retinitis pigmentosa (RP) in 16 family members.
TextSentencer_T3 264-419 Sentence denotes DNA sequence determination confirms the presence of the same mutation reported previously for one family apparently unrelated to the pedigree now reported.
TextSentencer_T4 420-549 Sentence denotes Features of RP in this family included a later onset of symptoms, with night blindness first noticed between ages 12 to 24 years.
TextSentencer_T5 550-645 Sentence denotes Although symptoms worsened with age, no complete blindness was observed even with advanced age.
TextSentencer_T6 646-918 Sentence denotes Results of psychophysical and electrophysiologic testing showed that a 19-year-old affected woman and her 65-year-old affected uncle had relatively similar extent of visual dysfunction, and that the vision of both was better than 2 of their relatives aged 37 and 53 years.
TextSentencer_T7 919-1070 Sentence denotes This study presents a range of phenotypic similarities and differences observed between individuals whose RP appears to be caused by the same mutation.
T1 0-85 Sentence denotes Rhodopsin Thr58Arg mutation in a family with autosomal dominant retinitis pigmentosa.
T2 86-263 Sentence denotes The authors report a family in which a Thr58Arg rhodopsin mutation co-segregates with the disease phenotype of autosomal dominant retinitis pigmentosa (RP) in 16 family members.
T3 264-419 Sentence denotes DNA sequence determination confirms the presence of the same mutation reported previously for one family apparently unrelated to the pedigree now reported.
T4 420-549 Sentence denotes Features of RP in this family included a later onset of symptoms, with night blindness first noticed between ages 12 to 24 years.
T5 550-645 Sentence denotes Although symptoms worsened with age, no complete blindness was observed even with advanced age.
T6 646-918 Sentence denotes Results of psychophysical and electrophysiologic testing showed that a 19-year-old affected woman and her 65-year-old affected uncle had relatively similar extent of visual dysfunction, and that the vision of both was better than 2 of their relatives aged 37 and 53 years.
T7 919-1070 Sentence denotes This study presents a range of phenotypic similarities and differences observed between individuals whose RP appears to be caused by the same mutation.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 0-9 gene:6010 denotes Rhodopsin
T1 45-84 disease:C0339525 denotes autosomal dominant retinitis pigmentosa
T2 134-143 gene:6010 denotes rhodopsin
T3 238-240 disease:C0339525 denotes RP
T4 134-143 gene:6010 denotes rhodopsin
T5 197-236 disease:C0339525 denotes autosomal dominant retinitis pigmentosa
R1 T0 T1 associated_with Rhodopsin,autosomal dominant retinitis pigmentosa
R2 T2 T3 associated_with rhodopsin,RP
R3 T4 T5 associated_with rhodopsin,autosomal dominant retinitis pigmentosa

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 197-215 HP_0000006 denotes autosomal dominant
T2 491-506 HP_0000662 denotes night blindness
T3 497-506 HP_0000618 denotes blindness
T4 599-608 HP_0000618 denotes blindness

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
1775313-0#10#18#geners28933394 10-18 geners28933394 denotes Thr58Arg
1775313-0#45#84#diseaseC0339525 45-84 diseaseC0339525 denotes autosomal dominant retinitis pigmentosa
10#18#geners2893339445#84#diseaseC0339525 1775313-0#10#18#geners28933394 1775313-0#45#84#diseaseC0339525 associated_with Thr58Arg,autosomal dominant retinitis pigmentosa

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
1775313-0#0#9#gene6010 0-9 gene6010 denotes Rhodopsin
1775313-0#45#84#diseaseC0339525 45-84 diseaseC0339525 denotes autosomal dominant retinitis pigmentosa
0#9#gene601045#84#diseaseC0339525 1775313-0#0#9#gene6010 1775313-0#45#84#diseaseC0339525 associated_with Rhodopsin,autosomal dominant retinitis pigmentosa

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 497-506 HP:0000618 denotes blindness
AB2 599-608 HP:0000618 denotes blindness

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 64-84 ORDO:791 denotes retinitis pigmentosa
AB1 216-236 ORDO:791 denotes retinitis pigmentosa