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PubMed:20598714 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
20598714_0 0-4 ProteinMutation denotes N88S rs137852972
20598714_1 1518-1522 ProteinMutation denotes N88S rs137852972
20598714_2 1677-1681 ProteinMutation denotes N88S rs137852972

DisGeNET

Id Subject Object Predicate Lexical cue
T0 21-26 gene:26580 denotes BSCL2
T1 102-117 disease:C0175693 denotes Silver syndrome
T2 21-26 gene:26580 denotes BSCL2
T3 57-98 disease:C1833308 denotes distal hereditary motor neuropathy type V
T4 21-26 gene:26580 denotes BSCL2
T5 102-117 disease:C2931276 denotes Silver syndrome
T6 333-338 gene:26580 denotes BSCL2
T7 186-201 disease:C0175693 denotes Silver syndrome
T8 333-338 gene:26580 denotes BSCL2
T9 131-172 disease:C1833308 denotes Distal hereditary motor neuropathy type V
T10 333-338 gene:26580 denotes BSCL2
T11 174-180 disease:C1833308 denotes dHMN-V
T12 287-329 gene:10555 denotes Berardinelli-Seip Congenital Lipodystrophy
T13 186-201 disease:C2931276 denotes Silver syndrome
T14 287-329 gene:10555 denotes Berardinelli-Seip Congenital Lipodystrophy
T15 186-201 disease:C0175693 denotes Silver syndrome
T16 348-354 gene:26580 denotes Seipin
T17 131-172 disease:C1833308 denotes Distal hereditary motor neuropathy type V
T18 348-354 gene:26580 denotes Seipin
T19 186-201 disease:C0175693 denotes Silver syndrome
T20 348-354 gene:26580 denotes Seipin
T21 186-201 disease:C2931276 denotes Silver syndrome
T22 287-329 gene:10555 denotes Berardinelli-Seip Congenital Lipodystrophy
T23 174-180 disease:C1833308 denotes dHMN-V
T24 287-329 gene:10555 denotes Berardinelli-Seip Congenital Lipodystrophy
T25 131-172 disease:C1833308 denotes Distal hereditary motor neuropathy type V
T26 333-338 gene:26580 denotes BSCL2
T27 186-201 disease:C2931276 denotes Silver syndrome
T28 556-561 gene:56955 denotes of 45
T29 522-530 disease:C3714552 denotes weakness
R1 T0 T1 associated_with BSCL2,Silver syndrome
R2 T2 T3 associated_with BSCL2,distal hereditary motor neuropathy type V
R3 T4 T5 associated_with BSCL2,Silver syndrome
R4 T6 T7 associated_with BSCL2,Silver syndrome
R5 T8 T9 associated_with BSCL2,Distal hereditary motor neuropathy type V
R6 T10 T11 associated_with BSCL2,dHMN-V
R7 T12 T13 associated_with Berardinelli-Seip Congenital Lipodystrophy,Silver syndrome
R8 T14 T15 associated_with Berardinelli-Seip Congenital Lipodystrophy,Silver syndrome
R9 T16 T17 associated_with Seipin,Distal hereditary motor neuropathy type V
R10 T18 T19 associated_with Seipin,Silver syndrome
R11 T20 T21 associated_with Seipin,Silver syndrome
R12 T22 T23 associated_with Berardinelli-Seip Congenital Lipodystrophy,dHMN-V
R13 T24 T25 associated_with Berardinelli-Seip Congenital Lipodystrophy,Distal hereditary motor neuropathy type V
R14 T26 T27 associated_with BSCL2,Silver syndrome
R15 T28 T29 associated_with of 45,weakness

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 316-329 HP_0009125 denotes Lipodystrophy

Allie

Id Subject Object Predicate Lexical cue
SS1_20598714_2_0 131-172 expanded denotes Distal hereditary motor neuropathy type V
SS2_20598714_2_0 174-180 abbr denotes dHMN-V
SS1_20598714_2_1 287-331 expanded denotes Berardinelli-Seip Congenital Lipodystrophy 2
SS2_20598714_2_1 333-338 abbr denotes BSCL2
SS1_20598714_14_0 1225-1252 expanded denotes nerve conduction velocities
SS2_20598714_14_0 1254-1257 abbr denotes NCV
SS1_20598714_15_0 1291-1323 expanded denotes Compound muscle action potential
SS2_20598714_15_0 1325-1329 abbr denotes CMAP
AE1_20598714_2_0 SS1_20598714_2_0 SS2_20598714_2_0 abbreviatedTo Distal hereditary motor neuropathy type V,dHMN-V
AE1_20598714_2_1 SS1_20598714_2_1 SS2_20598714_2_1 abbreviatedTo Berardinelli-Seip Congenital Lipodystrophy 2,BSCL2
AE1_20598714_14_0 SS1_20598714_14_0 SS2_20598714_14_0 abbreviatedTo nerve conduction velocities,NCV
AE1_20598714_15_0 SS1_20598714_15_0 SS2_20598714_15_0 abbreviatedTo Compound muscle action potential,CMAP

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
20598714-0#0#4#geners137852972 0-4 geners137852972 denotes N88S
20598714-0#57#98#diseaseC1833308 57-98 diseaseC1833308 denotes distal hereditary motor neuropathy type V
20598714-0#102#117#diseaseC2931276 102-117 diseaseC2931276 denotes Silver syndrome
0#4#geners13785297257#98#diseaseC1833308 20598714-0#0#4#geners137852972 20598714-0#57#98#diseaseC1833308 associated_with N88S,distal hereditary motor neuropathy type V
0#4#geners137852972102#117#diseaseC2931276 20598714-0#0#4#geners137852972 20598714-0#102#117#diseaseC2931276 associated_with N88S,Silver syndrome

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
20598714-0#21#26#gene26580 21-26 gene26580 denotes BSCL2
20598714-0#102#117#diseaseC2931276 102-117 diseaseC2931276 denotes Silver syndrome
20598714-0#57#98#diseaseC1833308 57-98 diseaseC1833308 denotes distal hereditary motor neuropathy type V
21#26#gene26580102#117#diseaseC2931276 20598714-0#21#26#gene26580 20598714-0#102#117#diseaseC2931276 associated_with BSCL2,Silver syndrome
21#26#gene2658057#98#diseaseC1833308 20598714-0#21#26#gene26580 20598714-0#57#98#diseaseC1833308 associated_with BSCL2,distal hereditary motor neuropathy type V

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-118 Sentence denotes N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.
TextSentencer_T2 119-130 Sentence denotes BACKGROUND:
TextSentencer_T3 131-355 Sentence denotes Distal hereditary motor neuropathy type V (dHMN-V) and Silver syndrome are rare phenotypically overlapping diseases which can be caused by mutations in the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) gene or Seipin.
TextSentencer_T4 356-360 Sentence denotes AIM:
TextSentencer_T5 361-464 Sentence denotes To report the first Serbian family with a BSCL2 mutation showing variable expression within the family.
TextSentencer_T6 465-486 Sentence denotes PATIENTS AND METHODS:
TextSentencer_T7 487-562 Sentence denotes A 55-year-old woman presented with weakness of both hands at the age of 45.
TextSentencer_T8 563-633 Sentence denotes At age 47, she noticed distal muscle weakness and atrophy in her legs.
TextSentencer_T9 634-756 Sentence denotes Physical examination revealed atrophy and weakness of small hand muscles and mild atrophy and weakness of the lower limbs.
TextSentencer_T10 757-852 Sentence denotes There was generalized hyperreflexia with the exception of ankle reflexes which were diminished.
TextSentencer_T11 853-921 Sentence denotes Her 25year-old son had only stiffness of both legs at the age of 22.
TextSentencer_T12 922-982 Sentence denotes Physical examination revealed only generalized hyporeflexia.
TextSentencer_T13 983-1185 Sentence denotes The third affected member in this family was her 55year-old cousin who showed a more prominent involvement of leg muscles with mild asymmetrical weakness of hand muscles and no pyramidal tract features.
TextSentencer_T14 1186-1194 Sentence denotes RESULTS:
TextSentencer_T15 1195-1290 Sentence denotes In all three patients sensory nerve conduction velocities (NCV) were normal in all extremities.
TextSentencer_T16 1291-1380 Sentence denotes Compound muscle action potential (CMAP) amplitudes were markedly reduced in all patients.
TextSentencer_T17 1381-1460 Sentence denotes Concentric needle EMG showed evidence of chronic denervation in distal muscles.
TextSentencer_T18 1461-1590 Sentence denotes DNA sequencing of BSCL2 was performed and a heterozygous N88S missense mutation in BSCL2 gene was detected in all three patients.
TextSentencer_T19 1591-1602 Sentence denotes CONCLUSION:
TextSentencer_T20 1603-1724 Sentence denotes This report is further confirmation of phenotypic heterogenity due to the N88S mutation of BSCL2 gene in the same family.
T1 0-118 Sentence denotes N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.
T2 119-130 Sentence denotes BACKGROUND:
T3 131-355 Sentence denotes Distal hereditary motor neuropathy type V (dHMN-V) and Silver syndrome are rare phenotypically overlapping diseases which can be caused by mutations in the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) gene or Seipin.
T4 356-360 Sentence denotes AIM:
T5 361-464 Sentence denotes To report the first Serbian family with a BSCL2 mutation showing variable expression within the family.
T6 465-486 Sentence denotes PATIENTS AND METHODS:
T7 487-562 Sentence denotes A 55-year-old woman presented with weakness of both hands at the age of 45.
T8 563-633 Sentence denotes At age 47, she noticed distal muscle weakness and atrophy in her legs.
T9 634-756 Sentence denotes Physical examination revealed atrophy and weakness of small hand muscles and mild atrophy and weakness of the lower limbs.
T10 757-852 Sentence denotes There was generalized hyperreflexia with the exception of ankle reflexes which were diminished.
T11 853-921 Sentence denotes Her 25year-old son had only stiffness of both legs at the age of 22.
T12 922-982 Sentence denotes Physical examination revealed only generalized hyporeflexia.
T13 983-1185 Sentence denotes The third affected member in this family was her 55year-old cousin who showed a more prominent involvement of leg muscles with mild asymmetrical weakness of hand muscles and no pyramidal tract features.
T14 1186-1194 Sentence denotes RESULTS:
T15 1195-1290 Sentence denotes In all three patients sensory nerve conduction velocities (NCV) were normal in all extremities.
T16 1291-1380 Sentence denotes Compound muscle action potential (CMAP) amplitudes were markedly reduced in all patients.
T17 1381-1460 Sentence denotes Concentric needle EMG showed evidence of chronic denervation in distal muscles.
T18 1461-1590 Sentence denotes DNA sequencing of BSCL2 was performed and a heterozygous N88S missense mutation in BSCL2 gene was detected in all three patients.
T19 1591-1602 Sentence denotes CONCLUSION:
T20 1603-1724 Sentence denotes This report is further confirmation of phenotypic heterogenity due to the N88S mutation of BSCL2 gene in the same family.

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 628-632 http://purl.obolibrary.org/obo/UBERON_0000978 denotes legs
PD-UBERON-AE-B_T2 899-903 http://purl.obolibrary.org/obo/UBERON_0000978 denotes legs
PD-UBERON-AE-B_T3 1093-1096 http://purl.obolibrary.org/obo/UBERON_0000978 denotes leg
PD-UBERON-AE-B_T4 750-755 http://purl.obolibrary.org/obo/UBERON_0002101 denotes limbs
PD-UBERON-AE-B_T5 1217-1230 http://purl.obolibrary.org/obo/UBERON_0001027 denotes sensory nerve
PD-UBERON-AE-B_T6 1225-1230 http://purl.obolibrary.org/obo/UBERON_0001021 denotes nerve

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 316-329 HP:0009125 denotes Lipodystrophy
AB2 586-608 HP:0002460 denotes distal muscle weakness
AB3 688-698 HP:0200055 denotes small hand
AB4 767-792 HP:0007034 denotes generalized hyperreflexia
AB5 969-981 HP:0001265 denotes hyporeflexia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 186-201 ORDO:100998 denotes Silver syndrome
TI1 102-117 ORDO:100998 denotes Silver syndrome
AB2 287-329 ORDO:528 denotes Berardinelli-Seip Congenital Lipodystrophy

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 628-632 http://purl.obolibrary.org/obo/UBERON_0000978 denotes legs
PD-UBERON-AE-B_T2 899-903 http://purl.obolibrary.org/obo/UBERON_0000978 denotes legs
PD-UBERON-AE-B_T3 1093-1096 http://purl.obolibrary.org/obo/UBERON_0000978 denotes leg
PD-UBERON-AE-B_T4 750-755 http://purl.obolibrary.org/obo/UBERON_0002101 denotes limbs
PD-UBERON-AE-B_T5 1217-1230 http://purl.obolibrary.org/obo/UBERON_0001027 denotes sensory nerve
PD-UBERON-AE-B_T6 1225-1230 http://purl.obolibrary.org/obo/UBERON_0001021 denotes nerve