> top > docs > PubMed:2852474 > annotations

PubMed:2852474 JSONTXT

Annnotations TAB JSON ListView MergeView

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-115 Sentence denotes Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.
TextSentencer_T2 116-279 Sentence denotes Five male Japanese patients with complex glycerol kinase deficiency (CGKD) and their relatives were studied clinically, cytogenetically, and molecular-genetically.
TextSentencer_T3 280-418 Sentence denotes All patients had muscular dystrophy or muscle weakness, mental retardation, congenital adrenal hypoplasia, and glycerol kinase deficiency.
TextSentencer_T4 419-554 Sentence denotes High-resolution GTG-banded chromosomes showed a microdeletion in the Xp21 region in all four patients examined and in all five mothers.
TextSentencer_T5 555-872 Sentence denotes Southern hybridizations, after digestions by restriction endonucleases, with various cloned DNAs (D2, 99-6, B24, C7, L1-4, cDMD13-14, J66-HI, P20, J-Bir, ERT87-30, ERT87-15, ERT87-8, ERT87-1, XJ-1.1, 754, cx5.7, and OTC-1) that are located around Xp21 also showed a deletion in the genome of all patients and mothers.
TextSentencer_T6 873-1032 Sentence denotes Although the deletion differed in size among patients, a segment commonly absent was located between the genomic sequences corresponding to L1-4 and cDMD13-14.
TextSentencer_T7 1033-1133 Sentence denotes This finding indicated that the gene coding for glycerol kinase (GK) is located within this segment.
TextSentencer_T8 1134-1376 Sentence denotes A comparison of the clinical manifestations of the present five patients and reported CGKD or Duchenne muscular dystrophy (DMD) patients with DNA deletion suggests the existence of a certain gene responsible for gonadotropin deficiency (GTD).
TextSentencer_T9 1377-1667 Sentence denotes The result of the present study and results of previous studies suggest that genes for ornithine transcarbamylase (OTC), DMD, and GK and putative genes responsible for congenital adrenal hypoplasia (AHC) and GTD are arranged from telomere to centromere as pter--GTD--AHC--GK--DMD--OTC--cen.
T1 0-115 Sentence denotes Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.
T2 116-279 Sentence denotes Five male Japanese patients with complex glycerol kinase deficiency (CGKD) and their relatives were studied clinically, cytogenetically, and molecular-genetically.
T3 280-418 Sentence denotes All patients had muscular dystrophy or muscle weakness, mental retardation, congenital adrenal hypoplasia, and glycerol kinase deficiency.
T4 419-554 Sentence denotes High-resolution GTG-banded chromosomes showed a microdeletion in the Xp21 region in all four patients examined and in all five mothers.
T5 555-872 Sentence denotes Southern hybridizations, after digestions by restriction endonucleases, with various cloned DNAs (D2, 99-6, B24, C7, L1-4, cDMD13-14, J66-HI, P20, J-Bir, ERT87-30, ERT87-15, ERT87-8, ERT87-1, XJ-1.1, 754, cx5.7, and OTC-1) that are located around Xp21 also showed a deletion in the genome of all patients and mothers.
T6 873-1032 Sentence denotes Although the deletion differed in size among patients, a segment commonly absent was located between the genomic sequences corresponding to L1-4 and cDMD13-14.
T7 1033-1133 Sentence denotes This finding indicated that the gene coding for glycerol kinase (GK) is located within this segment.
T8 1134-1376 Sentence denotes A comparison of the clinical manifestations of the present five patients and reported CGKD or Duchenne muscular dystrophy (DMD) patients with DNA deletion suggests the existence of a certain gene responsible for gonadotropin deficiency (GTD).
T9 1377-1667 Sentence denotes The result of the present study and results of previous studies suggest that genes for ornithine transcarbamylase (OTC), DMD, and GK and putative genes responsible for congenital adrenal hypoplasia (AHC) and GTD are arranged from telomere to centromere as pter--GTD--AHC--GK--DMD--OTC--cen.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1464-1490 gene:5009 denotes ornithine transcarbamylase
T1 1545-1574 disease:C0220766 denotes congenital adrenal hypoplasia
T2 1464-1490 gene:5009 denotes ornithine transcarbamylase
T3 1585-1588 disease:C0271623 denotes GTD
T4 1492-1495 gene:5009 denotes OTC
T5 1545-1574 disease:C0220766 denotes congenital adrenal hypoplasia
T6 1492-1495 gene:5009 denotes OTC
T7 1585-1588 disease:C0271623 denotes GTD
T8 1492-1495 gene:5009 denotes OTC
T9 1639-1642 disease:C0271623 denotes GTD
T10 1492-1495 gene:5009 denotes OTC
T11 1644-1647 disease:C0220766 denotes AHC
T12 1492-1495 gene:5009 denotes OTC
T13 1653-1656 disease:C0026850 denotes DMD
T14 1507-1509 gene:2710 denotes GK
T15 1545-1574 disease:C0220766 denotes congenital adrenal hypoplasia
T16 1507-1509 gene:2710 denotes GK
T17 1576-1579 disease:C0220766 denotes AHC
T18 1507-1509 gene:2710 denotes GK
T19 1585-1588 disease:C0271623 denotes GTD
T20 1507-1509 gene:2710 denotes GK
T21 1639-1642 disease:C0271623 denotes GTD
T22 1507-1509 gene:2710 denotes GK
T23 1644-1647 disease:C0220766 denotes AHC
T24 1507-1509 gene:2710 denotes GK
T25 1653-1656 disease:C0026850 denotes DMD
T26 1649-1651 gene:2710 denotes GK
T27 1545-1574 disease:C0220766 denotes congenital adrenal hypoplasia
T28 1649-1651 gene:2710 denotes GK
T29 1576-1579 disease:C0220766 denotes AHC
T30 1649-1651 gene:2710 denotes GK
T31 1585-1588 disease:C0271623 denotes GTD
T32 1658-1661 gene:5009 denotes OTC
T33 1545-1574 disease:C0220766 denotes congenital adrenal hypoplasia
T34 1658-1661 gene:5009 denotes OTC
T35 1576-1579 disease:C0220766 denotes AHC
T36 1658-1661 gene:5009 denotes OTC
T37 1585-1588 disease:C0271623 denotes GTD
R1 T0 T1 associated_with ornithine transcarbamylase,congenital adrenal hypoplasia
R2 T2 T3 associated_with ornithine transcarbamylase,GTD
R3 T4 T5 associated_with OTC,congenital adrenal hypoplasia
R4 T6 T7 associated_with OTC,GTD
R5 T8 T9 associated_with OTC,GTD
R6 T10 T11 associated_with OTC,AHC
R7 T12 T13 associated_with OTC,DMD
R8 T14 T15 associated_with GK,congenital adrenal hypoplasia
R9 T16 T17 associated_with GK,AHC
R10 T18 T19 associated_with GK,GTD
R11 T20 T21 associated_with GK,GTD
R12 T22 T23 associated_with GK,AHC
R13 T24 T25 associated_with GK,DMD
R14 T26 T27 associated_with GK,congenital adrenal hypoplasia
R15 T28 T29 associated_with GK,AHC
R16 T30 T31 associated_with GK,GTD
R17 T32 T33 associated_with OTC,congenital adrenal hypoplasia
R18 T34 T35 associated_with OTC,AHC
R19 T36 T37 associated_with OTC,GTD

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 297-315 HP_0003560 denotes muscular dystrophy
T2 319-334 HP_0001324 denotes muscle weakness
T3 336-354 HP_0001249 denotes mental retardation
T4 356-385 HP_0008244 denotes congenital adrenal hypoplasia
T5 367-385 HP_0000835 denotes adrenal hypoplasia
T6 1237-1255 HP_0003560 denotes muscular dystrophy
T7 1346-1369 HP_0008213 denotes gonadotropin deficiency
T8 1545-1574 HP_0008244 denotes congenital adrenal hypoplasia
T9 1556-1574 HP_0000835 denotes adrenal hypoplasia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 1228-1255 ORDO:98896 denotes Duchenne muscular dystrophy
AB2 1257-1260 ORDO:98896 denotes DMD
AB3 1498-1501 ORDO:98896 denotes DMD
AB4 1653-1656 ORDO:98896 denotes DMD

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 297-315 HP:0003560 denotes muscular dystrophy
AB2 319-334 HP:0001324 denotes muscle weakness
AB3 356-385 HP:0008244 denotes congenital adrenal hypoplasia
AB4 1237-1255 HP:0003560 denotes muscular dystrophy
AB5 1346-1369 HP:0008213 denotes gonadotropin deficiency
AB6 1545-1574 HP:0008244 denotes congenital adrenal hypoplasia

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 0-34 SpecificDisease:C538138 denotes Complex glycerol kinase deficiency
T2 149-183 SpecificDisease:C538138 denotes complex glycerol kinase deficiency
T3 185-189 SpecificDisease:C538138 denotes CGKD
T4 297-315 DiseaseClass:D009136 denotes muscular dystrophy
T5 319-334 DiseaseClass:D018908 denotes muscle weakness
T6 336-354 DiseaseClass:D008607 denotes mental retardation
T7 356-385 SpecificDisease:D000312 denotes congenital adrenal hypoplasia
T8 391-417 DiseaseClass:C538138 denotes glycerol kinase deficiency
T9 1220-1224 Modifier:C538138 denotes CGKD
T10 1228-1255 Modifier:D020388 denotes Duchenne muscular dystrophy
T11 1257-1260 Modifier:D020388 denotes DMD
T12 1346-1369 SpecificDisease:C535764 denotes gonadotropin deficiency
T13 1371-1374 SpecificDisease:C535764 denotes GTD
T14 1498-1501 SpecificDisease:D020388 denotes DMD
T15 1545-1574 SpecificDisease:D000312 denotes congenital adrenal hypoplasia
T16 1576-1579 SpecificDisease:D000312 denotes AHC
T17 1585-1588 SpecificDisease:C535764 denotes GTD

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T4412 0-34 SpecificDisease denotes Complex glycerol kinase deficiency C538138
T4413 149-183 SpecificDisease denotes complex glycerol kinase deficiency C538138
T4414 185-189 SpecificDisease denotes CGKD C538138
T4415 297-315 DiseaseClass denotes muscular dystrophy D009136
T4416 319-334 DiseaseClass denotes muscle weakness D018908
T4417 336-354 DiseaseClass denotes mental retardation D008607
T4418 356-385 SpecificDisease denotes congenital adrenal hypoplasia D000312
T4419 391-417 DiseaseClass denotes glycerol kinase deficiency C538138
T4420 1220-1224 Modifier denotes CGKD C538138
T4421 1228-1255 Modifier denotes Duchenne muscular dystrophy D020388
T4422 1257-1260 Modifier denotes DMD D020388
T4423 1346-1369 SpecificDisease denotes gonadotropin deficiency C535764
T4424 1371-1374 SpecificDisease denotes GTD C535764
T4425 1498-1501 SpecificDisease denotes DMD D020388
T4426 1545-1574 SpecificDisease denotes congenital adrenal hypoplasia D000312
T4427 1576-1579 SpecificDisease denotes AHC D000312
T4428 1585-1588 SpecificDisease denotes GTD C535764

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T4412 0-34 SpecificDisease denotes Complex glycerol kinase deficiency C538138
T4413 149-183 SpecificDisease denotes complex glycerol kinase deficiency C538138
T4414 185-189 SpecificDisease denotes CGKD C538138
T4415 297-315 DiseaseClass denotes muscular dystrophy D009136
T4416 319-334 DiseaseClass denotes muscle weakness D018908
T4417 336-354 DiseaseClass denotes mental retardation D008607
T4418 356-385 SpecificDisease denotes congenital adrenal hypoplasia D000312
T4419 391-417 DiseaseClass denotes glycerol kinase deficiency C538138
T4420 1220-1224 Modifier denotes CGKD C538138
T4421 1228-1255 Modifier denotes Duchenne muscular dystrophy D020388
T4422 1257-1260 Modifier denotes DMD D020388
T4423 1346-1369 SpecificDisease denotes gonadotropin deficiency C535764
T4424 1371-1374 SpecificDisease denotes GTD C535764
T4425 1498-1501 SpecificDisease denotes DMD D020388
T4426 1545-1574 SpecificDisease denotes congenital adrenal hypoplasia D000312
T4427 1576-1579 SpecificDisease denotes AHC D000312
T4428 1585-1588 SpecificDisease denotes GTD C535764

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 8-34 CompositeMention denotes glycerol kinase deficiency
T2 157-183 CompositeMention denotes glycerol kinase deficiency
T3 185-189 SpecificDisease denotes CGKD
T4 297-315 CompositeMention denotes muscular dystrophy
T5 336-354 SpecificDisease denotes mental retardation
T6 356-385 SpecificDisease denotes congenital adrenal hypoplasia
T7 391-417 SpecificDisease denotes glycerol kinase deficiency
T8 1081-1096 Modifier denotes glycerol kinase
T9 1098-1100 Modifier denotes GK
T10 1220-1224 SpecificDisease denotes CGKD
T11 1228-1255 CompositeMention denotes Duchenne muscular dystrophy
T12 1257-1260 SpecificDisease denotes DMD
T13 1346-1369 SpecificDisease denotes gonadotropin deficiency
T14 1371-1374 SpecificDisease denotes GTD
T15 1464-1490 Modifier denotes ornithine transcarbamylase
T16 1492-1495 Modifier denotes OTC
T17 1498-1501 SpecificDisease denotes DMD
T18 1507-1509 Modifier denotes GK
T19 1545-1574 SpecificDisease denotes congenital adrenal hypoplasia
T20 1576-1579 SpecificDisease denotes AHC
T21 1585-1588 SpecificDisease denotes GTD
T22 1639-1642 SpecificDisease denotes GTD
T23 1644-1647 SpecificDisease denotes AHC
T24 1649-1651 Modifier denotes GK
T25 1653-1656 SpecificDisease denotes DMD
T26 1658-1661 Modifier denotes OTC

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 8-34 DiseaseClass denotes glycerol kinase deficiency
T2 157-183 DiseaseClass denotes glycerol kinase deficiency
T3 297-315 SpecificDisease denotes muscular dystrophy
T4 356-385 SpecificDisease denotes congenital adrenal hypoplasia
T5 391-417 SpecificDisease denotes glycerol kinase deficiency
T6 1081-1096 Modifier denotes glycerol kinase
T7 1228-1255 SpecificDisease denotes Duchenne muscular dystrophy
T8 1257-1260 SpecificDisease denotes DMD
T9 1346-1369 DiseaseClass denotes gonadotropin deficiency
T10 1464-1490 SpecificDisease denotes ornithine transcarbamylase
T11 1498-1501 SpecificDisease denotes DMD
T12 1507-1509 SpecificDisease denotes GK
T13 1545-1574 SpecificDisease denotes congenital adrenal hypoplasia
T14 1576-1579 SpecificDisease denotes AHC
T15 1585-1588 DiseaseClass denotes GTD
T16 1639-1642 DiseaseClass denotes GTD
T17 1644-1647 SpecificDisease denotes AHC
T18 1649-1651 SpecificDisease denotes GK
T19 1653-1656 SpecificDisease denotes DMD
T20 1658-1661 SpecificDisease denotes OTC

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 8-34 SpecificDisease denotes glycerol kinase deficiency
T2 157-183 SpecificDisease denotes glycerol kinase deficiency
T3 297-315 DiseaseClass denotes muscular dystrophy
T4 319-334 DiseaseClass denotes muscle weakness
T5 336-354 DiseaseClass denotes mental retardation
T6 356-385 SpecificDisease denotes congenital adrenal hypoplasia
T7 391-417 SpecificDisease denotes glycerol kinase deficiency
T8 1081-1096 SpecificDisease denotes glycerol kinase
T9 1228-1255 SpecificDisease denotes Duchenne muscular dystrophy
T10 1346-1369 DiseaseClass denotes gonadotropin deficiency
T11 1464-1490 SpecificDisease denotes ornithine transcarbamylase
T12 1545-1574 SpecificDisease denotes congenital adrenal hypoplasia

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 24-34 SpecificDisease denotes deficiency
T2 173-183 SpecificDisease denotes deficiency
T3 185-189 SpecificDisease denotes CGKD
T4 297-315 DiseaseClass denotes muscular dystrophy
T5 319-334 CompositeMention denotes muscle weakness
T6 336-354 CompositeMention denotes mental retardation
T7 356-385 SpecificDisease denotes congenital adrenal hypoplasia
T8 391-417 SpecificDisease denotes glycerol kinase deficiency
T9 1220-1224 SpecificDisease denotes CGKD
T10 1228-1255 SpecificDisease denotes Duchenne muscular dystrophy
T11 1257-1260 SpecificDisease denotes DMD
T12 1346-1369 SpecificDisease denotes gonadotropin deficiency
T13 1371-1374 SpecificDisease denotes GTD
T14 1492-1495 SpecificDisease denotes OTC
T15 1498-1501 SpecificDisease denotes DMD
T16 1507-1509 SpecificDisease denotes GK
T17 1545-1574 SpecificDisease denotes congenital adrenal hypoplasia
T18 1576-1579 SpecificDisease denotes AHC
T19 1585-1588 SpecificDisease denotes GTD
T20 1639-1642 SpecificDisease denotes GTD
T21 1644-1647 SpecificDisease denotes AHC
T22 1649-1651 SpecificDisease denotes GK
T23 1653-1656 SpecificDisease denotes DMD
T24 1658-1661 SpecificDisease denotes OTC