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LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 1222-1227 OrganismTaxon denotes human NCBItxid:9606

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-134 Sentence denotes Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3).
T2 135-146 Sentence denotes BACKGROUND:
T3 147-351 Sentence denotes Familial partial lipodystrophy (Dunnigan) type 3 (FPLD3, Mendelian Inheritance in Man [MIM] 604367) results from heterozygous mutations in PPARG encoding peroxisomal proliferator-activated receptor-gamma.
T4 352-448 Sentence denotes Both dominant-negative and haploinsufficiency mechanisms have been suggested for this condition.
T5 449-457 Sentence denotes METHODS:
T6 458-620 Sentence denotes We present a Canadian FPLD3 kindred with an affected mother who had loss of fat on arms and legs, but no increase in facial, neck, suprascapular or abdominal fat.
T7 621-884 Sentence denotes She had profound insulin resistance, diabetes, severe hypertriglyceridemia and relapsing pancreatitis, while her pre-pubescent daughter had normal fat distribution but elevated plasma triglycerides and C-peptide and depressed high-density lipoprotein cholesterol.
T8 885-893 Sentence denotes RESULTS:
T9 894-1104 Sentence denotes The mother and daughter were each heterozygous for PPARG nonsense mutation Y355X, whose protein product in vitro was transcriptionally inactive with no dominant-negative activity against the wild-type receptor.
T10 1105-1169 Sentence denotes In addition the mutant protein appeared to be markedly unstable.
T11 1170-1181 Sentence denotes CONCLUSION:
T12 1182-1481 Sentence denotes Taken together with previous studies of human PPARG mutations, these findings suggest that PPAR-gamma deficiency due either to haploinsufficiency or to substantial activity loss due to dominant negative interference of the normal allele product's function can each contribute to the FPLD3 phenotype.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
2735 0-49 GeneOrGeneProduct denotes Peroxisomal proliferator activated receptor-gamma NCBIGene:5468
2736 88-125 DiseaseOrPhenotypicFeature denotes familial partial lipodystrophy type 3 MESH:D052496
2737 127-132 DiseaseOrPhenotypicFeature denotes FPLD3 MESH:D052496
2738 147-195 DiseaseOrPhenotypicFeature denotes Familial partial lipodystrophy (Dunnigan) type 3 MESH:D052496
2739 197-202 DiseaseOrPhenotypicFeature denotes FPLD3 MESH:D052496
2740 204-245 DiseaseOrPhenotypicFeature denotes Mendelian Inheritance in Man [MIM] 604367 MESH:D052496
2741 286-291 GeneOrGeneProduct denotes PPARG NCBIGene:5468
2742 301-350 GeneOrGeneProduct denotes peroxisomal proliferator-activated receptor-gamma NCBIGene:5468
2743 480-485 DiseaseOrPhenotypicFeature denotes FPLD3 MESH:D052496
2744 638-656 DiseaseOrPhenotypicFeature denotes insulin resistance MESH:D007333
2745 658-666 DiseaseOrPhenotypicFeature denotes diabetes MESH:D003920
2746 675-695 DiseaseOrPhenotypicFeature denotes hypertriglyceridemia MESH:D015228
2747 710-722 DiseaseOrPhenotypicFeature denotes pancreatitis MESH:D010195
2748 805-818 ChemicalEntity denotes triglycerides MESH:D014280
2749 823-832 ChemicalEntity denotes C-peptide MESH:D002096
2750 847-883 ChemicalEntity denotes high-density lipoprotein cholesterol MESH:D008076
2751 945-950 GeneOrGeneProduct denotes PPARG NCBIGene:5468
2752 969-974 SequenceVariant denotes Y355X p|SUB|Y|355|X
2753 1222-1227 OrganismTaxon denotes human NCBITaxon:9606
2754 1228-1233 GeneOrGeneProduct denotes PPARG NCBIGene:5468
2755 1273-1283 GeneOrGeneProduct denotes PPAR-gamma NCBIGene:5468
2756 1465-1470 DiseaseOrPhenotypicFeature denotes FPLD3 MESH:D052496

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 88-118 DiseaseOrPhenotypicFeature denotes familial partial lipodystrophy 0020088
T2 97-118 DiseaseOrPhenotypicFeature denotes partial lipodystrophy 0027767
T3 105-118 DiseaseOrPhenotypicFeature denotes lipodystrophy 0006573
T4 147-193 DiseaseOrPhenotypicFeature denotes Familial partial lipodystrophy (Dunnigan) type 0007906
T5 147-177 DiseaseOrPhenotypicFeature denotes Familial partial lipodystrophy 0020088
T6 156-177 DiseaseOrPhenotypicFeature denotes partial lipodystrophy 0027767
T7 164-177 DiseaseOrPhenotypicFeature denotes lipodystrophy 0006573
T8 214-225 DiseaseOrPhenotypicFeature denotes Inheritance 0021152
T9 675-695 DiseaseOrPhenotypicFeature denotes hypertriglyceridemia 0005347
T10 710-722 DiseaseOrPhenotypicFeature denotes pancreatitis 0004982

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 969-974 SequenceVariant denotes Y355X

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 35-43 GeneOrGeneProduct denotes receptor
T2 44-49 GeneOrGeneProduct denotes gamma
T3 286-291 GeneOrGeneProduct denotes PPARG
T4 301-344 GeneOrGeneProduct denotes peroxisomal proliferator-activated receptor
T5 345-350 GeneOrGeneProduct denotes gamma
T6 606-615 GeneOrGeneProduct denotes abdominal
T7 638-645 GeneOrGeneProduct denotes insulin
T8 658-666 GeneOrGeneProduct denotes diabetes
T9 738-747 GeneOrGeneProduct denotes pubescent
T10 768-784 GeneOrGeneProduct denotes fat distribution
T11 805-818 GeneOrGeneProduct denotes triglycerides
T12 823-832 GeneOrGeneProduct denotes C-peptide
T13 837-846 GeneOrGeneProduct denotes depressed
T14 847-851 GeneOrGeneProduct denotes high
T15 860-871 GeneOrGeneProduct denotes lipoprotein
T16 945-950 GeneOrGeneProduct denotes PPARG
T17 982-989 GeneOrGeneProduct denotes protein
T18 990-997 GeneOrGeneProduct denotes product
T19 1011-1028 GeneOrGeneProduct denotes transcriptionally
T20 1029-1037 GeneOrGeneProduct denotes inactive
T21 1095-1103 GeneOrGeneProduct denotes receptor
T22 1121-1127 GeneOrGeneProduct denotes mutant
T23 1128-1135 GeneOrGeneProduct denotes protein
T24 1228-1233 GeneOrGeneProduct denotes PPARG
T25 1273-1283 GeneOrGeneProduct denotes PPAR-gamma

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 35-43 GeneOrGeneProduct denotes receptor
T2 44-49 GeneOrGeneProduct denotes gamma
T3 61-65 GeneOrGeneProduct denotes in a
T4 273-282 GeneOrGeneProduct denotes mutations
T5 286-291 GeneOrGeneProduct denotes PPARG
T6 301-344 GeneOrGeneProduct denotes peroxisomal proliferator-activated receptor
T7 345-350 GeneOrGeneProduct denotes gamma
T8 379-397 GeneOrGeneProduct denotes haploinsufficiency
T9 449-456 GeneOrGeneProduct denotes METHODS
T10 541-545 GeneOrGeneProduct denotes arms
T11 606-615 GeneOrGeneProduct denotes abdominal
T12 638-645 GeneOrGeneProduct denotes insulin
T13 658-666 GeneOrGeneProduct denotes diabetes
T14 738-747 GeneOrGeneProduct denotes pubescent
T15 768-784 GeneOrGeneProduct denotes fat distribution
T16 805-818 GeneOrGeneProduct denotes triglycerides
T17 823-832 GeneOrGeneProduct denotes C-peptide
T18 837-846 GeneOrGeneProduct denotes depressed
T19 847-851 GeneOrGeneProduct denotes high
T20 860-871 GeneOrGeneProduct denotes lipoprotein
T21 945-950 GeneOrGeneProduct denotes PPARG
T22 960-968 GeneOrGeneProduct denotes mutation
T23 982-989 GeneOrGeneProduct denotes protein
T24 990-997 GeneOrGeneProduct denotes product
T25 1011-1028 GeneOrGeneProduct denotes transcriptionally
T26 1029-1037 GeneOrGeneProduct denotes inactive
T27 1064-1072 GeneOrGeneProduct denotes activity
T28 1095-1103 GeneOrGeneProduct denotes receptor
T29 1121-1127 GeneOrGeneProduct denotes mutant
T30 1128-1135 GeneOrGeneProduct denotes protein
T31 1151-1159 GeneOrGeneProduct denotes markedly
T32 1228-1233 GeneOrGeneProduct denotes PPARG
T33 1234-1243 GeneOrGeneProduct denotes mutations
T34 1251-1259 GeneOrGeneProduct denotes findings
T35 1273-1283 GeneOrGeneProduct denotes PPAR-gamma
T36 1309-1327 GeneOrGeneProduct denotes haploinsufficiency
T37 1346-1354 GeneOrGeneProduct denotes activity
T38 1419-1428 GeneOrGeneProduct denotes product's

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 88-118 DiseaseOrPhenotypicFeature denotes familial partial lipodystrophy D052496
T2 147-177 DiseaseOrPhenotypicFeature denotes Familial partial lipodystrophy D052496
T3 638-656 DiseaseOrPhenotypicFeature denotes insulin resistance D007333
T4 658-666 DiseaseOrPhenotypicFeature denotes diabetes DISEASE
T5 675-695 DiseaseOrPhenotypicFeature denotes hypertriglyceridemia D015228
T6 710-722 DiseaseOrPhenotypicFeature denotes pancreatitis D010195
T7 837-846 DiseaseOrPhenotypicFeature denotes depressed DISEASE

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 12-49 GeneOrGeneProduct denotes proliferator activated receptor-gamma
T2 286-291 GeneOrGeneProduct denotes PPARG
T3 301-344 GeneOrGeneProduct denotes peroxisomal proliferator-activated receptor
T4 738-747 GeneOrGeneProduct denotes pubescent
T5 768-784 GeneOrGeneProduct denotes fat distribution
T6 847-871 GeneOrGeneProduct denotes high-density lipoprotein
T7 945-950 GeneOrGeneProduct denotes PPARG
T8 1228-1233 GeneOrGeneProduct denotes PPARG
T9 1273-1283 GeneOrGeneProduct denotes PPAR-gamma

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 88-125 DiseaseOrPhenotypicFeature denotes familial partial lipodystrophy type 3 0011448
T2 127-132 DiseaseOrPhenotypicFeature denotes FPLD3 0011448
T3 147-193 DiseaseOrPhenotypicFeature denotes Familial partial lipodystrophy (Dunnigan) type 0007906
T4 197-202 DiseaseOrPhenotypicFeature denotes FPLD3 0011448
T5 480-485 DiseaseOrPhenotypicFeature denotes FPLD3 0011448
T6 541-545 DiseaseOrPhenotypicFeature denotes arms 0009994
T7 658-666 DiseaseOrPhenotypicFeature denotes diabetes 0005015
T8 675-695 DiseaseOrPhenotypicFeature denotes hypertriglyceridemia 0005347
T9 710-722 DiseaseOrPhenotypicFeature denotes pancreatitis 0004982
T10 1438-1441 DiseaseOrPhenotypicFeature denotes can 0012833
T11 1465-1470 DiseaseOrPhenotypicFeature denotes FPLD3 0011448

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 88-118 DiseaseOrPhenotypicFeature denotes familial partial lipodystrophy D052496
T2 127-132 DiseaseOrPhenotypicFeature denotes FPLD3 DISEASE
T3 147-195 DiseaseOrPhenotypicFeature denotes Familial partial lipodystrophy (Dunnigan) type 3 DISEASE
T4 197-202 DiseaseOrPhenotypicFeature denotes FPLD3 DISEASE
T5 204-245 DiseaseOrPhenotypicFeature denotes Mendelian Inheritance in Man [MIM] 604367 DISEASE
T6 480-485 DiseaseOrPhenotypicFeature denotes FPLD3 DISEASE
T7 638-656 DiseaseOrPhenotypicFeature denotes insulin resistance D007333
T8 658-666 DiseaseOrPhenotypicFeature denotes diabetes DISEASE
T9 675-695 DiseaseOrPhenotypicFeature denotes hypertriglyceridemia D015228
T10 710-722 DiseaseOrPhenotypicFeature denotes pancreatitis D010195
T11 837-846 DiseaseOrPhenotypicFeature denotes depressed DISEASE
T12 1465-1470 DiseaseOrPhenotypicFeature denotes FPLD3 DISEASE

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 88-118 DiseaseOrPhenotypicFeature denotes familial partial lipodystrophy D052496
T2 127-132 DiseaseOrPhenotypicFeature denotes FPLD3 DISEASE
T3 147-195 DiseaseOrPhenotypicFeature denotes Familial partial lipodystrophy (Dunnigan) type 3 DISEASE
T4 197-202 DiseaseOrPhenotypicFeature denotes FPLD3 DISEASE
T5 204-245 DiseaseOrPhenotypicFeature denotes Mendelian Inheritance in Man [MIM] 604367 DISEASE
T6 480-485 DiseaseOrPhenotypicFeature denotes FPLD3 DISEASE
T7 638-656 DiseaseOrPhenotypicFeature denotes insulin resistance D007333
T8 658-666 DiseaseOrPhenotypicFeature denotes diabetes DISEASE
T9 675-695 DiseaseOrPhenotypicFeature denotes hypertriglyceridemia D015228
T10 710-722 DiseaseOrPhenotypicFeature denotes pancreatitis D010195
T11 837-846 DiseaseOrPhenotypicFeature denotes depressed DISEASE
T12 1465-1470 DiseaseOrPhenotypicFeature denotes FPLD3 DISEASE

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 229-232 ChemicalEntity denotes Man http://purl.obolibrary.org/obo/CHEBI_37684
T2 805-818 ChemicalEntity denotes triglycerides D014280|http://purl.obolibrary.org/obo/CHEBI_17855
T4 823-832 ChemicalEntity denotes C-peptide http://purl.obolibrary.org/obo/CHEBI_80332
T5 847-883 ChemicalEntity denotes high-density lipoprotein cholesterol http://purl.obolibrary.org/obo/CHEBI_47775

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 229-232 OrganismTaxon denotes Man
T2 1222-1227 OrganismTaxon denotes human

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T5 847-883 ChemicalEntity denotes high-density lipoprotein cholesterol http://purl.obolibrary.org/obo/CHEBI_47775
T4 823-832 ChemicalEntity denotes C-peptide http://purl.obolibrary.org/obo/CHEBI_80332
T2 805-818 ChemicalEntity denotes triglycerides http://purl.obolibrary.org/obo/CHEBI_17855|D014280
T1 229-232 ChemicalEntity denotes Man http://purl.obolibrary.org/obo/CHEBI_37684
T9 1273-1283 GeneOrGeneProduct denotes PPAR-gamma
T8 1228-1233 GeneOrGeneProduct denotes PPARG
T7 945-950 GeneOrGeneProduct denotes PPARG
T6 847-871 GeneOrGeneProduct denotes high-density lipoprotein
T90017 768-784 GeneOrGeneProduct denotes fat distribution
T36090 738-747 GeneOrGeneProduct denotes pubescent
T3 301-344 GeneOrGeneProduct denotes peroxisomal proliferator-activated receptor
T52161 286-291 GeneOrGeneProduct denotes PPARG
T80883 12-49 GeneOrGeneProduct denotes proliferator activated receptor-gamma
T12 1465-1470 DiseaseOrPhenotypicFeature denotes FPLD3 DISEASE
T11 837-846 DiseaseOrPhenotypicFeature denotes depressed DISEASE
T10 710-722 DiseaseOrPhenotypicFeature denotes pancreatitis D010195
T42321 675-695 DiseaseOrPhenotypicFeature denotes hypertriglyceridemia D015228
T17898 658-666 DiseaseOrPhenotypicFeature denotes diabetes DISEASE
T81558 638-656 DiseaseOrPhenotypicFeature denotes insulin resistance D007333
T54232 480-485 DiseaseOrPhenotypicFeature denotes FPLD3 DISEASE
T88457 204-245 DiseaseOrPhenotypicFeature denotes Mendelian Inheritance in Man [MIM] 604367 DISEASE
T49623 197-202 DiseaseOrPhenotypicFeature denotes FPLD3 DISEASE
T48326 147-195 DiseaseOrPhenotypicFeature denotes Familial partial lipodystrophy (Dunnigan) type 3 DISEASE
T91128 127-132 DiseaseOrPhenotypicFeature denotes FPLD3 DISEASE
T52704 88-118 DiseaseOrPhenotypicFeature denotes familial partial lipodystrophy D052496
T94298 1222-1227 OrganismTaxon denotes human
T36434 229-232 OrganismTaxon denotes Man
T5420 969-974 SequenceVariant denotes Y355X

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-134 Sentence denotes Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3).
TextSentencer_T2 135-146 Sentence denotes BACKGROUND:
TextSentencer_T3 147-351 Sentence denotes Familial partial lipodystrophy (Dunnigan) type 3 (FPLD3, Mendelian Inheritance in Man [MIM] 604367) results from heterozygous mutations in PPARG encoding peroxisomal proliferator-activated receptor-gamma.
TextSentencer_T4 352-448 Sentence denotes Both dominant-negative and haploinsufficiency mechanisms have been suggested for this condition.
TextSentencer_T5 449-457 Sentence denotes METHODS:
TextSentencer_T6 458-620 Sentence denotes We present a Canadian FPLD3 kindred with an affected mother who had loss of fat on arms and legs, but no increase in facial, neck, suprascapular or abdominal fat.
TextSentencer_T7 621-884 Sentence denotes She had profound insulin resistance, diabetes, severe hypertriglyceridemia and relapsing pancreatitis, while her pre-pubescent daughter had normal fat distribution but elevated plasma triglycerides and C-peptide and depressed high-density lipoprotein cholesterol.
TextSentencer_T8 885-893 Sentence denotes RESULTS:
TextSentencer_T9 894-1104 Sentence denotes The mother and daughter were each heterozygous for PPARG nonsense mutation Y355X, whose protein product in vitro was transcriptionally inactive with no dominant-negative activity against the wild-type receptor.
TextSentencer_T10 1105-1169 Sentence denotes In addition the mutant protein appeared to be markedly unstable.
TextSentencer_T11 1170-1181 Sentence denotes CONCLUSION:
TextSentencer_T12 1182-1481 Sentence denotes Taken together with previous studies of human PPARG mutations, these findings suggest that PPAR-gamma deficiency due either to haploinsufficiency or to substantial activity loss due to dominant negative interference of the normal allele product's function can each contribute to the FPLD3 phenotype.
T1 0-134 Sentence denotes Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3).
T2 135-146 Sentence denotes BACKGROUND:
T3 147-351 Sentence denotes Familial partial lipodystrophy (Dunnigan) type 3 (FPLD3, Mendelian Inheritance in Man [MIM] 604367) results from heterozygous mutations in PPARG encoding peroxisomal proliferator-activated receptor-gamma.
T4 352-448 Sentence denotes Both dominant-negative and haploinsufficiency mechanisms have been suggested for this condition.
T5 449-457 Sentence denotes METHODS:
T6 458-620 Sentence denotes We present a Canadian FPLD3 kindred with an affected mother who had loss of fat on arms and legs, but no increase in facial, neck, suprascapular or abdominal fat.
T7 621-884 Sentence denotes She had profound insulin resistance, diabetes, severe hypertriglyceridemia and relapsing pancreatitis, while her pre-pubescent daughter had normal fat distribution but elevated plasma triglycerides and C-peptide and depressed high-density lipoprotein cholesterol.
T8 885-893 Sentence denotes RESULTS:
T9 894-1104 Sentence denotes The mother and daughter were each heterozygous for PPARG nonsense mutation Y355X, whose protein product in vitro was transcriptionally inactive with no dominant-negative activity against the wild-type receptor.
T10 1105-1169 Sentence denotes In addition the mutant protein appeared to be markedly unstable.
T11 1170-1181 Sentence denotes CONCLUSION:
T12 1182-1481 Sentence denotes Taken together with previous studies of human PPARG mutations, these findings suggest that PPAR-gamma deficiency due either to haploinsufficiency or to substantial activity loss due to dominant negative interference of the normal allele product's function can each contribute to the FPLD3 phenotype.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 164-177 HP_0009125 denotes lipodystrophy

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
16412238-7#46#51#gene5468 1228-1233 gene5468 denotes PPARG
16412238-7#283#288#diseaseC1720861 1465-1470 diseaseC1720861 denotes FPLD3
46#51#gene5468283#288#diseaseC1720861 16412238-7#46#51#gene5468 16412238-7#283#288#diseaseC1720861 associated_with PPARG,FPLD3

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 164-177 HP:0009125 denotes lipodystrophy
TI1 105-118 HP:0009125 denotes lipodystrophy
AB2 638-656 HP:0000855 denotes insulin resistance
AB3 675-695 HP:0002155 denotes hypertriglyceridemia
AB4 710-722 HP:0001733 denotes pancreatitis

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 147-193 ORDO:2348 denotes Familial partial lipodystrophy (Dunnigan) type
AB2 197-202 ORDO:79083 denotes FPLD3
TI1 88-125 ORDO:79083 denotes familial partial lipodystrophy type 3
TI2 127-132 ORDO:79083 denotes FPLD3
AB3 480-485 ORDO:79083 denotes FPLD3
AB4 1465-1470 ORDO:79083 denotes FPLD3

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 541-545 http://purl.obolibrary.org/obo/UBERON_0001460 denotes arms
PD-UBERON-AE-B_T2 550-554 http://purl.obolibrary.org/obo/UBERON_0000978 denotes legs
PD-UBERON-AE-B_T3 583-587 http://purl.obolibrary.org/obo/UBERON_0000974 denotes neck
PD-UBERON-AE-B_T4 589-602 http://purl.obolibrary.org/obo/UBERON_3000748 denotes suprascapular

DisGeNET

Id Subject Object Predicate Lexical cue
T0 286-291 gene:5468 denotes PPARG
T1 147-177 disease:C0271694 denotes Familial partial lipodystrophy
R1 T0 T1 associated_with PPARG,Familial partial lipodystrophy