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PubMed:10500204 JSONTXT

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PubMed_ArguminSci

Id Subject Object Predicate Lexical cue
T1 84-414 DRI_Challenge denotes Friedreich ataxia (FRDA), the most common of the inherited ataxias, is an autosomal recessive degenerative disorder, characterized clinically by onset before the age of 25 of progressive gait and limb ataxia, absence of deep tendon reflexes, extensor plantar responses, and loss of position and vibration sense in the lower limbs.
T2 415-532 DRI_Approach denotes FRDA is caused by a GAA triplet expansion in the first intron of the FRDA gene on chromosome 9q13 in 97% of patients.
T3 533-674 DRI_Approach denotes The FRDA gene encodes a widely expressed 210-aa protein, frataxin, which is located in mitochondria and is severely reduced in FRDA patients.
T4 675-890 DRI_Background denotes Frataxin function is still unknown but the knockout of the yeast frataxin homologue gene (YFH1) showed a severe defect of mitochondrial respiration and loss of mtDNA associated with elevated intramitochondrial iron.
T5 891-997 DRI_Outcome denotes Here we report in vivo evidence of impaired mitochondrial respiration in skeletal muscle of FRDA patients.
T6 998-1288 DRI_Approach denotes Using phosphorus magnetic resonance spectroscopy we demonstrated a maximum rate of muscle mitochondrial ATP production (V(max)) below the normal range in all 12 FRDA patients and a strong negative correlation between mitochondrial V(max) and the number of GAA repeats in the smaller allele.
T7 1289-1490 DRI_Outcome denotes Our results show that FRDA is a nuclear-encoded mitochondrial disorder affecting oxidative phosphorylation and give a rationale for treatments aimed to improve mitochondrial function in this condition.

PMID_GLOBAL

Id Subject Object Predicate Lexical cue mondo_id
T1 65-82 DiseaseOrPhenotypicFeature denotes Friedreich ataxia 0100339
T2 84-101 DiseaseOrPhenotypicFeature denotes Friedreich ataxia 0100339
T3 103-107 DiseaseOrPhenotypicFeature denotes FRDA 0100339
T4 285-291 DiseaseOrPhenotypicFeature denotes ataxia 0000437|0100308
T6 415-419 DiseaseOrPhenotypicFeature denotes FRDA 0100339
T7 484-488 DiseaseOrPhenotypicFeature denotes FRDA 0100339
T8 537-541 DiseaseOrPhenotypicFeature denotes FRDA 0100339
T9 660-664 DiseaseOrPhenotypicFeature denotes FRDA 0100339
T10 787-793 DiseaseOrPhenotypicFeature denotes defect 0008568
T11 983-987 DiseaseOrPhenotypicFeature denotes FRDA 0100339
T12 1159-1163 DiseaseOrPhenotypicFeature denotes FRDA 0100339
T13 1311-1315 DiseaseOrPhenotypicFeature denotes FRDA 0100339

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 95-101 HP_0001251 denotes ataxia
T2 143-150 HP_0001251 denotes ataxias
T3 158-177 HP_0000007 denotes autosomal recessive
T4 259-291 HP_0007240 denotes progressive gait and limb ataxia
T5 271-291 HP_0002066 denotes gait and limb ataxia
T6 280-291 HP_0002070 denotes limb ataxia
T7 285-291 HP_0001251 denotes ataxia
T8 293-324 HP_0001284 denotes absence of deep tendon reflexes
T9 326-352 HP_0003487 denotes extensor plantar responses
T10 797-810 HP_0001427 denotes mitochondrial
T11 935-948 HP_0001427 denotes mitochondrial
T12 1088-1101 HP_0001427 denotes mitochondrial
T13 1215-1228 HP_0001427 denotes mitochondrial
T14 1337-1350 HP_0001427 denotes mitochondrial
T15 1449-1462 HP_0001427 denotes mitochondrial

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10500204-3#57#65#gene2395 590-598 gene2395 denotes frataxin
10500204-3#127#131#diseaseC1856689 660-664 diseaseC1856689 denotes FRDA
57#65#gene2395127#131#diseaseC1856689 10500204-3#57#65#gene2395 10500204-3#127#131#diseaseC1856689 associated_with frataxin,FRDA

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 65-82 SpecificDisease:D005621 denotes Friedreich ataxia
T2 84-101 SpecificDisease:D005621 denotes Friedreich ataxia
T3 103-107 SpecificDisease:D005621 denotes FRDA
T4 133-150 DiseaseClass:D013132 denotes inherited ataxias
T5 158-199 DiseaseClass:D019636 denotes autosomal recessive degenerative disorder
T6 259-291 CompositeMention:D020234|D001259 denotes progressive gait and limb ataxia
T7 293-324 DiseaseClass:D012021 denotes absence of deep tendon reflexes
T8 326-352 DiseaseClass:D001405 denotes extensor plantar responses
T9 358-394 CompositeMention:D053421 denotes loss of position and vibration sense
T10 415-419 SpecificDisease:D005621 denotes FRDA
T11 484-488 Modifier:D005621 denotes FRDA
T12 537-541 Modifier:D005621 denotes FRDA
T13 660-664 Modifier:D005621 denotes FRDA
T14 983-987 Modifier:D005621 denotes FRDA
T15 1159-1163 Modifier:D005621 denotes FRDA
T16 1311-1315 SpecificDisease:D005621 denotes FRDA
T17 1337-1359 DiseaseClass:D028361 denotes mitochondrial disorder

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T4518 65-82 SpecificDisease denotes Friedreich ataxia D005621
T4519 84-101 SpecificDisease denotes Friedreich ataxia D005621
T4520 103-107 SpecificDisease denotes FRDA D005621
T4521 133-150 DiseaseClass denotes inherited ataxias D013132
T4522 158-199 DiseaseClass denotes autosomal recessive degenerative disorder D019636
T4523 259-291 CompositeMention denotes progressive gait and limb ataxia D020234|D001259
T4524 293-324 DiseaseClass denotes absence of deep tendon reflexes D012021
T4525 326-352 DiseaseClass denotes extensor plantar responses D001405
T4526 358-394 CompositeMention denotes loss of position and vibration sense D053421
T4527 415-419 SpecificDisease denotes FRDA D005621
T4528 484-488 Modifier denotes FRDA D005621
T4529 537-541 Modifier denotes FRDA D005621
T4530 660-664 Modifier denotes FRDA D005621
T4531 983-987 Modifier denotes FRDA D005621
T4532 1159-1163 Modifier denotes FRDA D005621
T4533 1311-1315 SpecificDisease denotes FRDA D005621
T4534 1337-1359 DiseaseClass denotes mitochondrial disorder D028361

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T4518 65-82 SpecificDisease denotes Friedreich ataxia D005621
T4519 84-101 SpecificDisease denotes Friedreich ataxia D005621
T4520 103-107 SpecificDisease denotes FRDA D005621
T4521 133-150 DiseaseClass denotes inherited ataxias D013132
T4522 158-199 DiseaseClass denotes autosomal recessive degenerative disorder D019636
T4523 259-291 CompositeMention denotes progressive gait and limb ataxia D020234|D001259
T4524 293-324 DiseaseClass denotes absence of deep tendon reflexes D012021
T4525 326-352 DiseaseClass denotes extensor plantar responses D001405
T4526 358-394 CompositeMention denotes loss of position and vibration sense D053421
T4527 415-419 SpecificDisease denotes FRDA D005621
T4528 484-488 Modifier denotes FRDA D005621
T4529 537-541 Modifier denotes FRDA D005621
T4530 660-664 Modifier denotes FRDA D005621
T4531 983-987 Modifier denotes FRDA D005621
T4532 1159-1163 Modifier denotes FRDA D005621
T4533 1311-1315 SpecificDisease denotes FRDA D005621
T4534 1337-1359 DiseaseClass denotes mitochondrial disorder D028361

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 65-82 SpecificDisease denotes Friedreich ataxia
T2 84-101 SpecificDisease denotes Friedreich ataxia
T3 103-107 SpecificDisease denotes FRDA
T4 415-419 SpecificDisease denotes FRDA
T5 484-488 Modifier denotes FRDA
T6 537-541 Modifier denotes FRDA
T7 660-664 Modifier denotes FRDA
T8 983-987 Modifier denotes FRDA
T9 1159-1163 Modifier denotes FRDA
T10 1311-1315 SpecificDisease denotes FRDA

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 65-82 SpecificDisease denotes Friedreich ataxia
T2 84-101 SpecificDisease denotes Friedreich ataxia
T3 103-107 SpecificDisease denotes FRDA
T4 415-419 SpecificDisease denotes FRDA
T5 484-488 Modifier denotes FRDA
T6 537-541 Modifier denotes FRDA
T7 660-664 Modifier denotes FRDA
T8 983-987 Modifier denotes FRDA
T9 1159-1163 Modifier denotes FRDA
T10 1311-1315 SpecificDisease denotes FRDA

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 65-82 SpecificDisease denotes Friedreich ataxia
T2 84-101 SpecificDisease denotes Friedreich ataxia
T3 103-107 SpecificDisease denotes FRDA
T4 415-419 SpecificDisease denotes FRDA
T5 660-664 SpecificDisease denotes FRDA
T6 983-987 SpecificDisease denotes FRDA
T7 1159-1163 SpecificDisease denotes FRDA
T8 1311-1315 SpecificDisease denotes FRDA

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 65-82 SpecificDisease denotes Friedreich ataxia
T2 84-108 SpecificDisease denotes Friedreich ataxia (FRDA)
T3 143-150 DiseaseClass denotes ataxias
T4 660-664 Modifier denotes FRDA
T5 983-987 Modifier denotes FRDA
T6 1159-1163 Modifier denotes FRDA
T7 1311-1315 Modifier denotes FRDA