PubMed:8240110
Annnotations
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 236-239 | gene:5961 | denotes | RDS |
| T1 | 267-306 | disease:C0339525 | denotes | autosomal dominant retinitis pigmentosa |
| T2 | 236-239 | gene:7263 | denotes | RDS |
| T3 | 267-306 | disease:C0339525 | denotes | autosomal dominant retinitis pigmentosa |
| T4 | 236-239 | gene:5961 | denotes | RDS |
| T5 | 339-367 | disease:C1405854 | denotes | retinitis punctata albescens |
| T6 | 236-239 | gene:7263 | denotes | RDS |
| T7 | 339-367 | disease:C1405854 | denotes | retinitis punctata albescens |
| R1 | T0 | T1 | associated_with | RDS,autosomal dominant retinitis pigmentosa |
| R2 | T2 | T3 | associated_with | RDS,autosomal dominant retinitis pigmentosa |
| R3 | T4 | T5 | associated_with | RDS,retinitis punctata albescens |
| R4 | T6 | T7 | associated_with | RDS,retinitis punctata albescens |
performance-test
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 1308-1314 | http://purl.obolibrary.org/obo/UBERON_0000054 | denotes | macula |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-180 | Sentence | denotes | Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. |
| TextSentencer_T2 | 181-207 | Sentence | denotes | BACKGROUND AND OBJECTIVES: |
| TextSentencer_T3 | 208-368 | Sentence | denotes | Mutations of the peripherin/RDS gene have been reported in autosomal dominant retinitis pigmentosa, pattern macular dystrophy, and retinitis punctata albescens. |
| TextSentencer_T4 | 369-534 | Sentence | denotes | We report herein the occurrence of three separate phenotypes within a single family with a novel 3-base pair deletion of codon 153 or 154 of the peripherin/RDS gene. |
| TextSentencer_T5 | 535-542 | Sentence | denotes | DESIGN: |
| TextSentencer_T6 | 543-677 | Sentence | denotes | Case reports with clinical features, fluorescein angiography, kinetic perimetry, electrophysiological studies, and molecular genetics. |
| TextSentencer_T7 | 678-686 | Sentence | denotes | SETTING: |
| TextSentencer_T8 | 687-714 | Sentence | denotes | University medical centers. |
| TextSentencer_T9 | 715-724 | Sentence | denotes | PATIENTS: |
| TextSentencer_T10 | 725-925 | Sentence | denotes | A 75-year-old woman, her two daughters (aged 44 and 50 years), and her 49-year-old son were screened for peripherin/RDS mutations because of the presence of multiple phenotypes within the same family. |
| TextSentencer_T11 | 926-934 | Sentence | denotes | RESULTS: |
| TextSentencer_T12 | 935-1148 | Sentence | denotes | The mother presented at age 63 years with a profoundly abnormal electroretinogram (ERG) and adult-onset retinitis pigmentosa that progressed dramatically over 12 years, with marked loss of peripheral visual field. |
| TextSentencer_T13 | 1149-1214 | Sentence | denotes | One daughter developed pattern macular dystrophy at age 31 years. |
| TextSentencer_T14 | 1215-1315 | Sentence | denotes | At age 44 years, her ERG was moderately abnormal but her clinical disease was limited to the macula. |
| TextSentencer_T15 | 1316-1459 | Sentence | denotes | Another daughter presented at age 42 years with macular degeneration and over 10 years developed the clinical picture of fundus flavimaculatus. |
| TextSentencer_T16 | 1460-1538 | Sentence | denotes | Her peripheral visual field was preserved but her ERG was moderately abnormal. |
| TextSentencer_T17 | 1539-1597 | Sentence | denotes | The son had onset of macular degeneration at age 44 years. |
| TextSentencer_T18 | 1598-1666 | Sentence | denotes | Pericentral scotomas were present and the ERG was markedly abnormal. |
| TextSentencer_T19 | 1667-1749 | Sentence | denotes | Fluorescein angiography revealed punctate pigment epithelial transmission defects. |
| TextSentencer_T20 | 1750-1762 | Sentence | denotes | CONCLUSIONS: |
| TextSentencer_T21 | 1763-1905 | Sentence | denotes | A 3-base pair deletion of codon 153 or 154 of the peripherin/RDS gene can produce clinically disparate phenotypes even within the same family. |
| T1 | 0-180 | Sentence | denotes | Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. |
| T2 | 181-207 | Sentence | denotes | BACKGROUND AND OBJECTIVES: |
| T3 | 208-368 | Sentence | denotes | Mutations of the peripherin/RDS gene have been reported in autosomal dominant retinitis pigmentosa, pattern macular dystrophy, and retinitis punctata albescens. |
| T4 | 369-534 | Sentence | denotes | We report herein the occurrence of three separate phenotypes within a single family with a novel 3-base pair deletion of codon 153 or 154 of the peripherin/RDS gene. |
| T5 | 535-542 | Sentence | denotes | DESIGN: |
| T6 | 543-677 | Sentence | denotes | Case reports with clinical features, fluorescein angiography, kinetic perimetry, electrophysiological studies, and molecular genetics. |
| T7 | 678-686 | Sentence | denotes | SETTING: |
| T8 | 687-714 | Sentence | denotes | University medical centers. |
| T9 | 715-724 | Sentence | denotes | PATIENTS: |
| T10 | 725-925 | Sentence | denotes | A 75-year-old woman, her two daughters (aged 44 and 50 years), and her 49-year-old son were screened for peripherin/RDS mutations because of the presence of multiple phenotypes within the same family. |
| T11 | 926-934 | Sentence | denotes | RESULTS: |
| T12 | 935-1148 | Sentence | denotes | The mother presented at age 63 years with a profoundly abnormal electroretinogram (ERG) and adult-onset retinitis pigmentosa that progressed dramatically over 12 years, with marked loss of peripheral visual field. |
| T13 | 1149-1214 | Sentence | denotes | One daughter developed pattern macular dystrophy at age 31 years. |
| T14 | 1215-1315 | Sentence | denotes | At age 44 years, her ERG was moderately abnormal but her clinical disease was limited to the macula. |
| T15 | 1316-1459 | Sentence | denotes | Another daughter presented at age 42 years with macular degeneration and over 10 years developed the clinical picture of fundus flavimaculatus. |
| T16 | 1460-1538 | Sentence | denotes | Her peripheral visual field was preserved but her ERG was moderately abnormal. |
| T17 | 1539-1597 | Sentence | denotes | The son had onset of macular degeneration at age 44 years. |
| T18 | 1598-1666 | Sentence | denotes | Pericentral scotomas were present and the ERG was markedly abnormal. |
| T19 | 1667-1749 | Sentence | denotes | Fluorescein angiography revealed punctate pigment epithelial transmission defects. |
| T20 | 1750-1762 | Sentence | denotes | CONCLUSIONS: |
| T21 | 1763-1905 | Sentence | denotes | A 3-base pair deletion of codon 153 or 154 of the peripherin/RDS gene can produce clinically disparate phenotypes even within the same family. |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 316-333 | HP:0007754 | denotes | macular dystrophy |
| AB2 | 990-1016 | HP:0000512 | denotes | abnormal electroretinogram |
| AB3 | 1180-1197 | HP:0007754 | denotes | macular dystrophy |
| AB4 | 1364-1384 | HP:0000608 | denotes | macular degeneration |
| AB5 | 1560-1580 | HP:0000608 | denotes | macular degeneration |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 31-51 | ORDO:791 | denotes | retinitis pigmentosa |
| TI2 | 76-97 | ORDO:827 | denotes | fundus flavimaculatus |
| AB1 | 286-306 | ORDO:791 | denotes | retinitis pigmentosa |
| AB2 | 339-367 | ORDO:52427 | denotes | retinitis punctata albescens |
| AB3 | 1039-1059 | ORDO:791 | denotes | retinitis pigmentosa |
| AB4 | 1437-1458 | ORDO:827 | denotes | fundus flavimaculatus |
UBERON-AE
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 1308-1314 | http://purl.obolibrary.org/obo/UBERON_0000054 | denotes | macula |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 31-51 | SpecificDisease:D012174 | denotes | retinitis pigmentosa |
| T2 | 53-70 | SpecificDisease:D008268 | denotes | pattern dystrophy |
| T3 | 76-97 | SpecificDisease:C535804 | denotes | fundus flavimaculatus |
| T4 | 267-306 | SpecificDisease:D012174 | denotes | autosomal dominant retinitis pigmentosa |
| T5 | 316-333 | SpecificDisease:D008268 | denotes | macular dystrophy |
| T6 | 339-367 | SpecificDisease:OMIM:136880 | denotes | retinitis punctata albescens |
| T7 | 1039-1059 | SpecificDisease:D012174 | denotes | retinitis pigmentosa |
| T8 | 1172-1197 | SpecificDisease:D008268 | denotes | pattern macular dystrophy |
| T9 | 1364-1384 | SpecificDisease:D008268 | denotes | macular degeneration |
| T10 | 1437-1458 | SpecificDisease:C535804 | denotes | fundus flavimaculatus |
| T11 | 1560-1580 | SpecificDisease:D008268 | denotes | macular degeneration |
| T12 | 1598-1618 | SpecificDisease:D012607 | denotes | Pericentral scotomas |
NCBI-Disease-Train
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T4988 | 31-51 | SpecificDisease | denotes | retinitis pigmentosa | D012174 |
| T4989 | 53-70 | SpecificDisease | denotes | pattern dystrophy | D008268 |
| T4990 | 76-97 | SpecificDisease | denotes | fundus flavimaculatus | C535804 |
| T4991 | 267-306 | SpecificDisease | denotes | autosomal dominant retinitis pigmentosa | D012174 |
| T4992 | 316-333 | SpecificDisease | denotes | macular dystrophy | D008268 |
| T4993 | 339-367 | SpecificDisease | denotes | retinitis punctata albescens | OMIM:136880 |
| T4994 | 1039-1059 | SpecificDisease | denotes | retinitis pigmentosa | D012174 |
| T4995 | 1172-1197 | SpecificDisease | denotes | pattern macular dystrophy | D008268 |
| T4996 | 1364-1384 | SpecificDisease | denotes | macular degeneration | D008268 |
| T4997 | 1437-1458 | SpecificDisease | denotes | fundus flavimaculatus | C535804 |
| T4998 | 1560-1580 | SpecificDisease | denotes | macular degeneration | D008268 |
| T4999 | 1598-1618 | SpecificDisease | denotes | Pericentral scotomas | D012607 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T4988 | 31-51 | SpecificDisease | denotes | retinitis pigmentosa | D012174 |
| T4989 | 53-70 | SpecificDisease | denotes | pattern dystrophy | D008268 |
| T4990 | 76-97 | SpecificDisease | denotes | fundus flavimaculatus | C535804 |
| T4991 | 267-306 | SpecificDisease | denotes | autosomal dominant retinitis pigmentosa | D012174 |
| T4992 | 316-333 | SpecificDisease | denotes | macular dystrophy | D008268 |
| T4993 | 339-367 | SpecificDisease | denotes | retinitis punctata albescens | OMIM:136880 |
| T4994 | 1039-1059 | SpecificDisease | denotes | retinitis pigmentosa | D012174 |
| T4995 | 1172-1197 | SpecificDisease | denotes | pattern macular dystrophy | D008268 |
| T4996 | 1364-1384 | SpecificDisease | denotes | macular degeneration | D008268 |
| T4997 | 1437-1458 | SpecificDisease | denotes | fundus flavimaculatus | C535804 |
| T4998 | 1560-1580 | SpecificDisease | denotes | macular degeneration | D008268 |
| T4999 | 1598-1618 | SpecificDisease | denotes | Pericentral scotomas | D012607 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 31-51 | SpecificDisease | denotes | retinitis pigmentosa |
| T2 | 53-70 | SpecificDisease | denotes | pattern dystrophy |
| T3 | 76-97 | SpecificDisease | denotes | fundus flavimaculatus |
| T4 | 286-306 | SpecificDisease | denotes | retinitis pigmentosa |
| T5 | 308-333 | SpecificDisease | denotes | pattern macular dystrophy |
| T6 | 339-367 | SpecificDisease | denotes | retinitis punctata albescens |
| T7 | 1039-1059 | SpecificDisease | denotes | retinitis pigmentosa |
| T8 | 1172-1197 | SpecificDisease | denotes | pattern macular dystrophy |
| T9 | 1364-1384 | SpecificDisease | denotes | macular degeneration |
| T10 | 1437-1458 | SpecificDisease | denotes | fundus flavimaculatus |
| T11 | 1560-1580 | SpecificDisease | denotes | macular degeneration |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 31-51 | SpecificDisease | denotes | retinitis pigmentosa |
| T2 | 53-70 | SpecificDisease | denotes | pattern dystrophy |
| T3 | 76-97 | SpecificDisease | denotes | fundus flavimaculatus |
| T4 | 286-306 | SpecificDisease | denotes | retinitis pigmentosa |
| T5 | 308-333 | SpecificDisease | denotes | pattern macular dystrophy |
| T6 | 339-367 | SpecificDisease | denotes | retinitis punctata albescens |
| T7 | 1039-1059 | SpecificDisease | denotes | retinitis pigmentosa |
| T8 | 1172-1197 | SpecificDisease | denotes | pattern macular dystrophy |
| T9 | 1364-1384 | DiseaseClass | denotes | macular degeneration |
| T10 | 1437-1458 | SpecificDisease | denotes | fundus flavimaculatus |
| T11 | 1560-1580 | DiseaseClass | denotes | macular degeneration |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 31-51 | SpecificDisease | denotes | retinitis pigmentosa |
| T2 | 53-70 | SpecificDisease | denotes | pattern dystrophy |
| T3 | 76-97 | SpecificDisease | denotes | fundus flavimaculatus |
| T4 | 286-306 | SpecificDisease | denotes | retinitis pigmentosa |
| T5 | 308-333 | Modifier | denotes | pattern macular dystrophy |
| T6 | 339-367 | SpecificDisease | denotes | retinitis punctata albescens |
| T7 | 1039-1059 | SpecificDisease | denotes | retinitis pigmentosa |
| T8 | 1172-1197 | Modifier | denotes | pattern macular dystrophy |
| T9 | 1364-1384 | SpecificDisease | denotes | macular degeneration |
| T10 | 1437-1458 | SpecificDisease | denotes | fundus flavimaculatus |
| T11 | 1560-1580 | SpecificDisease | denotes | macular degeneration |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 31-51 | SpecificDisease | denotes | retinitis pigmentosa |
| T2 | 53-70 | SpecificDisease | denotes | pattern dystrophy |
| T3 | 76-97 | SpecificDisease | denotes | fundus flavimaculatus |
| T4 | 286-306 | SpecificDisease | denotes | retinitis pigmentosa |
| T5 | 308-333 | SpecificDisease | denotes | pattern macular dystrophy |
| T6 | 339-367 | SpecificDisease | denotes | retinitis punctata albescens |
| T7 | 1039-1059 | SpecificDisease | denotes | retinitis pigmentosa |
| T8 | 1172-1197 | SpecificDisease | denotes | pattern macular dystrophy |
| T9 | 1364-1384 | SpecificDisease | denotes | macular degeneration |
| T10 | 1437-1458 | SpecificDisease | denotes | fundus flavimaculatus |
| T11 | 1560-1580 | SpecificDisease | denotes | macular degeneration |