> top > docs > PubMed:21126715 > annotations

PubMed:21126715 JSONTXT

Annnotations TAB JSON ListView MergeView

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
8363 21-57 DiseaseOrPhenotypicFeature denotes congenital generalized lipodystrophy MESH:D052497
8364 79-87 SequenceVariant denotes Ile262fs p|FS|I|262||
8365 104-109 GeneOrGeneProduct denotes BSCL2 NCBIGene:26580
8366 116-152 DiseaseOrPhenotypicFeature denotes Congenital generalized lipodystrophy MESH:D052497
8367 154-157 DiseaseOrPhenotypicFeature denotes CGL MESH:D052497
8368 169-196 DiseaseOrPhenotypicFeature denotes autosomal recessive disease MESH:D030342
8369 310-315 GeneOrGeneProduct denotes BSCL2 NCBIGene:26580
8370 344-348 DiseaseOrPhenotypicFeature denotes CGL2 MESH:D052497
8371 379-383 DiseaseOrPhenotypicFeature denotes CGL1 MESH:D052497
8372 466-489 DiseaseOrPhenotypicFeature denotes intellectual impairment MESH:D008607
8373 507-521 DiseaseOrPhenotypicFeature denotes cardiomyopathy MESH:D009202
8374 653-671 DiseaseOrPhenotypicFeature denotes eruptive xanthomas MESH:D014973
8375 685-705 DiseaseOrPhenotypicFeature denotes hypertriglyceridemia MESH:D015228
8376 817-829 DiseaseOrPhenotypicFeature denotes Hepatomegaly MESH:D006529
8377 916-933 DiseaseOrPhenotypicFeature denotes hepatic steatosis MESH:D005234
8378 949-957 DiseaseOrPhenotypicFeature denotes necrosis MESH:D009336
8379 1006-1020 DiseaseOrPhenotypicFeature denotes cardiomyopathy MESH:D009202
8380 1047-1070 DiseaseOrPhenotypicFeature denotes intellectual impairment MESH:D008607
8381 1163-1185 DiseaseOrPhenotypicFeature denotes enlargement of kidneys MESH:D007674
8382 1234-1241 SequenceVariant denotes 783insG c|INS|783|G
8383 1243-1251 SequenceVariant denotes Ile262fs p|FS|I|262||
8384 1280-1285 GeneOrGeneProduct denotes BSCL2 NCBIGene:26580
8385 1320-1323 DiseaseOrPhenotypicFeature denotes CGL MESH:D052497
8386 1382-1387 GeneOrGeneProduct denotes BSCL2 NCBIGene:26580
8387 1418-1421 DiseaseOrPhenotypicFeature denotes CGL MESH:D052497

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-115 Sentence denotes A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene.
T2 116-292 Sentence denotes Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease that is characterized by a near-complete absence of adipose tissue from birth or early infancy.
T3 293-522 Sentence denotes Mutations in the BSCL2 gene are known to result in CGL2, a more severe phenotype than CGL1, with earlier onset, more extensive fat loss and biochemical changes, more severe intellectual impairment, and more severe cardiomyopathy.
T4 523-706 Sentence denotes We report a 3-month-old Taiwanese boy with initial presentation of a lack of subcutaneous fat, prominent musculature, generalized eruptive xanthomas, and extreme hypertriglyceridemia.
T5 707-816 Sentence denotes Absence of mechanical adipose tissue in the orbits and scalp was revealed by head magnetic resonance imaging.
T6 817-958 Sentence denotes Hepatomegaly was noticed, and histological examination of a liver biopsy specimen suggested severe hepatic steatosis and periportal necrosis.
T7 959-1103 Sentence denotes However, echocardiography indicated no sign of cardiomyopathy and he showed no distinct intellectual impairment that interfered with daily life.
T8 1104-1186 Sentence denotes About 1 year later, abdominal computed tomography revealed enlargement of kidneys.
T9 1187-1291 Sentence denotes He had a homozygous insertion of a nucleotide, 783insG (Ile262fs mutation), in exon 7 of the BSCL2 gene.
T10 1292-1431 Sentence denotes We reviewed the genotype of CGL cases from Japan, India, China and Taiwan, and found that BSCL2 is a major causative gene for CGL in Asian.

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 618-627 OrganismTaxon denotes prominent NCBItxid:37571

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 21-57 DiseaseOrPhenotypicFeature denotes congenital generalized lipodystrophy 0006536
T2 21-31 DiseaseOrPhenotypicFeature denotes congenital 0021140
T3 32-57 DiseaseOrPhenotypicFeature denotes generalized lipodystrophy 0027766
T4 44-57 DiseaseOrPhenotypicFeature denotes lipodystrophy 0006573
T5 116-152 DiseaseOrPhenotypicFeature denotes Congenital generalized lipodystrophy 0006536
T6 127-152 DiseaseOrPhenotypicFeature denotes generalized lipodystrophy 0027766
T7 139-152 DiseaseOrPhenotypicFeature denotes lipodystrophy 0006573
T8 164-168 DiseaseOrPhenotypicFeature denotes rare 0021136
T9 169-196 DiseaseOrPhenotypicFeature denotes autosomal recessive disease 0006025
T10 229-237 DiseaseOrPhenotypicFeature denotes complete 0700063
T11 507-521 DiseaseOrPhenotypicFeature denotes cardiomyopathy 0004994
T12 662-671 DiseaseOrPhenotypicFeature denotes xanthomas 0005236
T13 685-705 DiseaseOrPhenotypicFeature denotes hypertriglyceridemia 0005347
T14 916-923 DiseaseOrPhenotypicFeature denotes hepatic 0002251
T15 1006-1020 DiseaseOrPhenotypicFeature denotes cardiomyopathy 0004994

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 79-87 SequenceVariant denotes Ile262fs
T2 1234-1241 SequenceVariant denotes 783insG
T3 1243-1251 SequenceVariant denotes Ile262fs

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 88-96 GeneOrGeneProduct denotes mutation
T2 104-109 GeneOrGeneProduct denotes BSCL2
T3 153-163 GeneOrGeneProduct denotes (CGL) is a
T4 164-168 GeneOrGeneProduct denotes rare
T5 249-256 GeneOrGeneProduct denotes adipose
T6 278-283 GeneOrGeneProduct denotes early
T7 293-302 GeneOrGeneProduct denotes Mutations
T8 310-315 GeneOrGeneProduct denotes BSCL2
T9 344-348 GeneOrGeneProduct denotes CGL2
T10 379-383 GeneOrGeneProduct denotes CGL1
T11 410-419 GeneOrGeneProduct denotes extensive
T12 533-536 GeneOrGeneProduct denotes a 3
T13 566-573 GeneOrGeneProduct denotes initial
T14 592-596 GeneOrGeneProduct denotes lack
T15 600-616 GeneOrGeneProduct denotes subcutaneous fat
T16 653-661 GeneOrGeneProduct denotes eruptive
T17 729-736 GeneOrGeneProduct denotes adipose
T18 751-757 GeneOrGeneProduct denotes orbits
T19 877-882 GeneOrGeneProduct denotes liver
T20 1112-1116 GeneOrGeneProduct denotes year
T21 1117-1122 GeneOrGeneProduct denotes later
T22 1124-1133 GeneOrGeneProduct denotes abdominal
T23 1178-1185 GeneOrGeneProduct denotes kidneys
T24 1190-1195 GeneOrGeneProduct denotes had a
T25 1252-1260 GeneOrGeneProduct denotes mutation
T26 1280-1285 GeneOrGeneProduct denotes BSCL2
T27 1324-1329 GeneOrGeneProduct denotes cases
T28 1382-1387 GeneOrGeneProduct denotes BSCL2
T29 1393-1398 GeneOrGeneProduct denotes major

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 104-109 GeneOrGeneProduct denotes BSCL2
T2 164-168 GeneOrGeneProduct denotes rare
T3 249-256 GeneOrGeneProduct denotes adipose
T4 278-283 GeneOrGeneProduct denotes early
T5 310-315 GeneOrGeneProduct denotes BSCL2
T6 344-348 GeneOrGeneProduct denotes CGL2
T7 379-383 GeneOrGeneProduct denotes CGL1
T8 592-596 GeneOrGeneProduct denotes lack
T9 600-616 GeneOrGeneProduct denotes subcutaneous fat
T10 729-736 GeneOrGeneProduct denotes adipose
T11 877-882 GeneOrGeneProduct denotes liver
T12 1124-1133 GeneOrGeneProduct denotes abdominal
T13 1280-1285 GeneOrGeneProduct denotes BSCL2
T14 1382-1387 GeneOrGeneProduct denotes BSCL2
T15 1393-1398 GeneOrGeneProduct denotes major

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 21-57 DiseaseOrPhenotypicFeature denotes congenital generalized lipodystrophy D052497
T2 127-152 DiseaseOrPhenotypicFeature denotes generalized lipodystrophy D052497
T3 154-157 DiseaseOrPhenotypicFeature denotes CGL D052497
T4 189-196 DiseaseOrPhenotypicFeature denotes disease D004194
T5 507-521 DiseaseOrPhenotypicFeature denotes cardiomyopathy D009202
T6 662-671 DiseaseOrPhenotypicFeature denotes xanthomas D014973
T7 685-705 DiseaseOrPhenotypicFeature denotes hypertriglyceridemia D015228
T8 817-829 DiseaseOrPhenotypicFeature denotes Hepatomegaly D006529
T9 949-957 DiseaseOrPhenotypicFeature denotes necrosis D009336
T10 1006-1020 DiseaseOrPhenotypicFeature denotes cardiomyopathy D009202
T11 1320-1323 DiseaseOrPhenotypicFeature denotes CGL D052497
T12 1418-1421 DiseaseOrPhenotypicFeature denotes CGL D052497

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 104-109 GeneOrGeneProduct denotes BSCL2
T2 310-315 GeneOrGeneProduct denotes BSCL2
T3 344-348 GeneOrGeneProduct denotes CGL2
T4 379-383 GeneOrGeneProduct denotes CGL1
T5 600-616 GeneOrGeneProduct denotes subcutaneous fat
T6 1280-1285 GeneOrGeneProduct denotes BSCL2
T7 1382-1387 GeneOrGeneProduct denotes BSCL2

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 21-57 DiseaseOrPhenotypicFeature denotes congenital generalized lipodystrophy 0006536
T2 116-152 DiseaseOrPhenotypicFeature denotes Congenital generalized lipodystrophy 0006536
T3 154-157 DiseaseOrPhenotypicFeature denotes CGL 0006536
T4 169-196 DiseaseOrPhenotypicFeature denotes autosomal recessive disease 0006025
T5 344-348 DiseaseOrPhenotypicFeature denotes CGL2 0010020
T6 379-383 DiseaseOrPhenotypicFeature denotes CGL1 0012071
T7 507-521 DiseaseOrPhenotypicFeature denotes cardiomyopathy 0004994
T8 685-705 DiseaseOrPhenotypicFeature denotes hypertriglyceridemia 0005347
T9 1006-1020 DiseaseOrPhenotypicFeature denotes cardiomyopathy 0004994
T10 1025-1027 DiseaseOrPhenotypicFeature denotes he 0017319
T11 1320-1323 DiseaseOrPhenotypicFeature denotes CGL 0006536
T12 1418-1421 DiseaseOrPhenotypicFeature denotes CGL 0006536

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 21-57 DiseaseOrPhenotypicFeature denotes congenital generalized lipodystrophy D052497
T2 127-152 DiseaseOrPhenotypicFeature denotes generalized lipodystrophy D052497
T3 154-157 DiseaseOrPhenotypicFeature denotes CGL D052497
T4 189-196 DiseaseOrPhenotypicFeature denotes disease D004194
T5 344-348 DiseaseOrPhenotypicFeature denotes CGL2 DISEASE
T6 379-383 DiseaseOrPhenotypicFeature denotes CGL1 DISEASE
T7 466-489 DiseaseOrPhenotypicFeature denotes intellectual impairment DISEASE
T8 507-521 DiseaseOrPhenotypicFeature denotes cardiomyopathy D009202
T9 662-671 DiseaseOrPhenotypicFeature denotes xanthomas D014973
T10 685-705 DiseaseOrPhenotypicFeature denotes hypertriglyceridemia D015228
T11 817-829 DiseaseOrPhenotypicFeature denotes Hepatomegaly D006529
T12 916-933 DiseaseOrPhenotypicFeature denotes hepatic steatosis DISEASE
T13 949-957 DiseaseOrPhenotypicFeature denotes necrosis D009336
T14 1006-1020 DiseaseOrPhenotypicFeature denotes cardiomyopathy D009202
T15 1047-1070 DiseaseOrPhenotypicFeature denotes intellectual impairment DISEASE
T16 1163-1185 DiseaseOrPhenotypicFeature denotes enlargement of kidneys DISEASE
T17 1320-1323 DiseaseOrPhenotypicFeature denotes CGL D052497
T18 1418-1421 DiseaseOrPhenotypicFeature denotes CGL D052497

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 21-57 DiseaseOrPhenotypicFeature denotes congenital generalized lipodystrophy D052497
T2 127-152 DiseaseOrPhenotypicFeature denotes generalized lipodystrophy D052497
T3 154-157 DiseaseOrPhenotypicFeature denotes CGL D052497
T4 169-196 DiseaseOrPhenotypicFeature denotes autosomal recessive disease EisukeAdded
T5 344-348 DiseaseOrPhenotypicFeature denotes CGL2 DISEASE
T6 379-383 DiseaseOrPhenotypicFeature denotes CGL1 DISEASE
T7 466-489 DiseaseOrPhenotypicFeature denotes intellectual impairment DISEASE
T8 507-521 DiseaseOrPhenotypicFeature denotes cardiomyopathy D009202
T9 662-671 DiseaseOrPhenotypicFeature denotes xanthomas D014973
T10 685-705 DiseaseOrPhenotypicFeature denotes hypertriglyceridemia D015228
T11 817-829 DiseaseOrPhenotypicFeature denotes Hepatomegaly D006529
T12 916-933 DiseaseOrPhenotypicFeature denotes hepatic steatosis DISEASE
T13 1006-1020 DiseaseOrPhenotypicFeature denotes cardiomyopathy D009202
T14 1047-1070 DiseaseOrPhenotypicFeature denotes intellectual impairment DISEASE
T15 1163-1185 DiseaseOrPhenotypicFeature denotes enlargement of kidneys DISEASE
T16 1320-1323 DiseaseOrPhenotypicFeature denotes CGL D052497
T17 1418-1421 DiseaseOrPhenotypicFeature denotes CGL D052497

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 618-627 OrganismTaxon denotes prominent

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label
T7 1382-1387 GeneOrGeneProduct denotes BSCL2
T6 1280-1285 GeneOrGeneProduct denotes BSCL2
T5 600-616 GeneOrGeneProduct denotes subcutaneous fat
T4 379-383 GeneOrGeneProduct denotes CGL1
T3 344-348 GeneOrGeneProduct denotes CGL2
T2 310-315 GeneOrGeneProduct denotes BSCL2
T1 104-109 GeneOrGeneProduct denotes BSCL2
T17 1418-1421 DiseaseOrPhenotypicFeature denotes CGL D052497
T16 1320-1323 DiseaseOrPhenotypicFeature denotes CGL D052497
T15 1163-1185 DiseaseOrPhenotypicFeature denotes enlargement of kidneys DISEASE
T14 1047-1070 DiseaseOrPhenotypicFeature denotes intellectual impairment DISEASE
T13 1006-1020 DiseaseOrPhenotypicFeature denotes cardiomyopathy D009202
T12 916-933 DiseaseOrPhenotypicFeature denotes hepatic steatosis DISEASE
T11 817-829 DiseaseOrPhenotypicFeature denotes Hepatomegaly D006529
T10 685-705 DiseaseOrPhenotypicFeature denotes hypertriglyceridemia D015228
T9 662-671 DiseaseOrPhenotypicFeature denotes xanthomas D014973
T8 507-521 DiseaseOrPhenotypicFeature denotes cardiomyopathy D009202
T16413 466-489 DiseaseOrPhenotypicFeature denotes intellectual impairment DISEASE
T11558 379-383 DiseaseOrPhenotypicFeature denotes CGL1 DISEASE
T35338 344-348 DiseaseOrPhenotypicFeature denotes CGL2 DISEASE
T27727 169-196 DiseaseOrPhenotypicFeature denotes autosomal recessive disease EisukeAdded
T81168 154-157 DiseaseOrPhenotypicFeature denotes CGL D052497
T21440 127-152 DiseaseOrPhenotypicFeature denotes generalized lipodystrophy D052497
T74605 21-57 DiseaseOrPhenotypicFeature denotes congenital generalized lipodystrophy D052497
T95088 618-627 OrganismTaxon denotes prominent
T54979 1243-1251 SequenceVariant denotes Ile262fs
T47987 1234-1241 SequenceVariant denotes 783insG
T78966 79-87 SequenceVariant denotes Ile262fs

DisGeNET

Id Subject Object Predicate Lexical cue
T0 310-315 gene:26580 denotes BSCL2
T1 507-521 disease:C0878544 denotes cardiomyopathy
T2 379-383 gene:3002 denotes CGL1
T3 466-489 disease:C0683322 denotes intellectual impairment
T4 379-383 gene:3002 denotes CGL1
T5 507-521 disease:C0878544 denotes cardiomyopathy
T6 1382-1387 gene:26580 denotes BSCL2
T7 1418-1421 disease:C0023473 denotes CGL
R1 T0 T1 associated_with BSCL2,cardiomyopathy
R2 T2 T3 associated_with CGL1,intellectual impairment
R3 T4 T5 associated_with CGL1,cardiomyopathy
R4 T6 T7 associated_with BSCL2,CGL

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 116-152 HP_0009059 denotes Congenital generalized lipodystrophy
T2 127-152 HP_0009064 denotes generalized lipodystrophy
T3 139-152 HP_0009125 denotes lipodystrophy
T4 169-188 HP_0000007 denotes autosomal recessive
T5 466-489 HP_0100543 denotes intellectual impairment
T6 507-521 HP_0001638 denotes cardiomyopathy
T7 653-671 HP_0001013 denotes eruptive xanthomas
T8 685-705 HP_0002155 denotes hypertriglyceridemia
T9 817-829 HP_0002240 denotes Hepatomegaly
T10 916-957 HP_0002614 denotes hepatic steatosis and periportal necrosis
T11 916-933 HP_0001397 denotes hepatic steatosis
T12 924-933 HP_0001397 denotes steatosis
T13 1006-1020 HP_0001638 denotes cardiomyopathy
T14 1047-1070 HP_0100543 denotes intellectual impairment
T15 1163-1185 HP_0000105 denotes enlargement of kidneys

Allie

Id Subject Object Predicate Lexical cue
SS1_21126715_1_0 116-152 expanded denotes Congenital generalized lipodystrophy
SS2_21126715_1_0 154-157 abbr denotes CGL
AE1_21126715_1_0 SS1_21126715_1_0 SS2_21126715_1_0 abbreviatedTo Congenital generalized lipodystrophy,CGL

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 116-152 HP:0009059 denotes Congenital generalized lipodystrophy
TI1 21-57 HP:0009059 denotes congenital generalized lipodystrophy
AB2 507-521 HP:0001638 denotes cardiomyopathy
AB3 653-671 HP:0001013 denotes eruptive xanthomas
AB4 685-705 HP:0002155 denotes hypertriglyceridemia
AB5 817-829 HP:0002240 denotes Hepatomegaly
AB6 916-933 HP:0001397 denotes hepatic steatosis
AB7 1006-1020 HP:0001638 denotes cardiomyopathy

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 79-87 ProteinMutation:p|FS|I|262|| denotes Ile262fs
T2 1234-1241 DNAMutation:|INS|783|G denotes 783insG
T3 1243-1251 ProteinMutation:p|FS|I|262|| denotes Ile262fs