PubMed:20598714
Annnotations
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 |