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PubMed:21194947 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-65 Sentence denotes Variable phenotypes are associated with PMP22 missense mutations.
TextSentencer_T2 66-220 Sentence denotes Charcot-Marie-Tooth disease (CMT) is the commonest hereditary neuropathy encompassing a large group of clinically and genetically heterogeneous disorders.
TextSentencer_T3 221-346 Sentence denotes The commonest form of CMT, CMT1A, is usually caused by a 1.4 megabase duplication of chromosome 17 containing the PMP22 gene.
TextSentencer_T4 347-397 Sentence denotes Mutations of PMP22 are a less common cause of CMT.
TextSentencer_T5 398-513 Sentence denotes We describe clinical, electrophysiological and molecular findings of 10 patients carrying PMP22 missense mutations.
TextSentencer_T6 514-624 Sentence denotes The phenotype varied from mild hereditary neuropathy with liability to pressure palsies (HNPP) to severe CMT1.
TextSentencer_T7 625-700 Sentence denotes We identified six different point mutations, including two novel mutations.
TextSentencer_T8 701-764 Sentence denotes Three families were also found to harbour a Thr118Met mutation.
TextSentencer_T9 765-1034 Sentence denotes Although PMP22 point mutations are not common, our findings highlight the importance of sequencing the PMP22 gene in patients with variable CMT phenotypes and also confirm that the PMP22 Thr118Met mutation is associated with a neuropathy albeit with reduced penetrance.
T1 0-65 Sentence denotes Variable phenotypes are associated with PMP22 missense mutations.
T2 66-220 Sentence denotes Charcot-Marie-Tooth disease (CMT) is the commonest hereditary neuropathy encompassing a large group of clinically and genetically heterogeneous disorders.
T3 221-346 Sentence denotes The commonest form of CMT, CMT1A, is usually caused by a 1.4 megabase duplication of chromosome 17 containing the PMP22 gene.
T4 347-397 Sentence denotes Mutations of PMP22 are a less common cause of CMT.
T5 398-513 Sentence denotes We describe clinical, electrophysiological and molecular findings of 10 patients carrying PMP22 missense mutations.
T6 514-624 Sentence denotes The phenotype varied from mild hereditary neuropathy with liability to pressure palsies (HNPP) to severe CMT1.
T7 625-700 Sentence denotes We identified six different point mutations, including two novel mutations.
T8 701-764 Sentence denotes Three families were also found to harbour a Thr118Met mutation.
T9 765-1034 Sentence denotes Although PMP22 point mutations are not common, our findings highlight the importance of sequencing the PMP22 gene in patients with variable CMT phenotypes and also confirm that the PMP22 Thr118Met mutation is associated with a neuropathy albeit with reduced penetrance.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 360-365 gene:5827 denotes PMP22
T1 393-396 disease:C0007959 denotes CMT
T2 360-365 gene:5376 denotes PMP22
T3 393-396 disease:C0007959 denotes CMT
T4 619-623 gene:4359 denotes CMT1
T5 603-607 disease:C0393814 denotes HNPP
T6 619-623 gene:4359 denotes CMT1
T7 545-601 disease:C0393814 denotes hereditary neuropathy with liability to pressure palsies
R1 T0 T1 associated_with PMP22,CMT
R2 T2 T3 associated_with PMP22,CMT
R3 T4 T5 associated_with CMT1,HNPP
R4 T6 T7 associated_with CMT1,hereditary neuropathy with liability to pressure palsies

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 291-302 HP_0009609 denotes duplication

Allie

Id Subject Object Predicate Lexical cue
SS1_21194947_1_0 66-93 expanded denotes Charcot-Marie-Tooth disease
SS2_21194947_1_0 95-98 abbr denotes CMT
SS1_21194947_5_0 545-601 expanded denotes hereditary neuropathy with liability to pressure palsies
SS2_21194947_5_0 603-607 abbr denotes HNPP
AE1_21194947_1_0 SS1_21194947_1_0 SS2_21194947_1_0 abbreviatedTo Charcot-Marie-Tooth disease,CMT
AE1_21194947_5_0 SS1_21194947_5_0 SS2_21194947_5_0 abbreviatedTo hereditary neuropathy with liability to pressure palsies,HNPP

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
21194947-8#187#196#geners104894619 952-961 geners104894619 denotes Thr118Met
21194947-8#140#143#diseaseC0007959 905-908 diseaseC0007959 denotes CMT
21194947-8#227#237#diseaseC0442874 992-1002 diseaseC0442874 denotes neuropathy
187#196#geners104894619140#143#diseaseC0007959 21194947-8#187#196#geners104894619 21194947-8#140#143#diseaseC0007959 associated_with Thr118Met,CMT
187#196#geners104894619227#237#diseaseC0442874 21194947-8#187#196#geners104894619 21194947-8#227#237#diseaseC0442874 associated_with Thr118Met,neuropathy

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
21194947-5#105#109#gene4359 619-623 gene4359 denotes CMT1
21194947-5#105#109#gene8731 619-623 gene8731 denotes CMT1
21194947-5#105#109#gene4359 619-623 gene4359 denotes CMT1
21194947-5#105#109#gene8731 619-623 gene8731 denotes CMT1
21194947-5#31#87#diseaseC0393814 545-601 diseaseC0393814 denotes hereditary neuropathy with liability to pressure palsies
21194947-5#89#93#diseaseC0393814 603-607 diseaseC0393814 denotes HNPP
21194947-8#9#14#gene5376 774-779 gene5376 denotes PMP22
21194947-8#103#108#gene5376 868-873 gene5376 denotes PMP22
21194947-8#181#186#gene5376 946-951 gene5376 denotes PMP22
21194947-8#227#237#diseaseC0442874 992-1002 diseaseC0442874 denotes neuropathy
21194947-8#140#143#diseaseC0007959 905-908 diseaseC0007959 denotes CMT
21194947-8#227#237#diseaseC0442874 992-1002 diseaseC0442874 denotes neuropathy
21194947-8#140#143#diseaseC0007959 905-908 diseaseC0007959 denotes CMT
21194947-8#227#237#diseaseC0442874 992-1002 diseaseC0442874 denotes neuropathy
105#109#gene435931#87#diseaseC0393814 21194947-5#105#109#gene4359 21194947-5#31#87#diseaseC0393814 associated_with CMT1,hereditary neuropathy with liability to pressure palsies
105#109#gene435989#93#diseaseC0393814 21194947-5#105#109#gene4359 21194947-5#89#93#diseaseC0393814 associated_with CMT1,HNPP
105#109#gene873131#87#diseaseC0393814 21194947-5#105#109#gene8731 21194947-5#31#87#diseaseC0393814 associated_with CMT1,hereditary neuropathy with liability to pressure palsies
105#109#gene873189#93#diseaseC0393814 21194947-5#105#109#gene8731 21194947-5#89#93#diseaseC0393814 associated_with CMT1,HNPP
105#109#gene435931#87#diseaseC0393814 21194947-5#105#109#gene4359 21194947-5#31#87#diseaseC0393814 associated_with CMT1,hereditary neuropathy with liability to pressure palsies
105#109#gene435989#93#diseaseC0393814 21194947-5#105#109#gene4359 21194947-5#89#93#diseaseC0393814 associated_with CMT1,HNPP
105#109#gene873131#87#diseaseC0393814 21194947-5#105#109#gene8731 21194947-5#31#87#diseaseC0393814 associated_with CMT1,hereditary neuropathy with liability to pressure palsies
105#109#gene873189#93#diseaseC0393814 21194947-5#105#109#gene8731 21194947-5#89#93#diseaseC0393814 associated_with CMT1,HNPP
9#14#gene5376227#237#diseaseC0442874 21194947-8#9#14#gene5376 21194947-8#227#237#diseaseC0442874 associated_with PMP22,neuropathy
9#14#gene5376140#143#diseaseC0007959 21194947-8#9#14#gene5376 21194947-8#140#143#diseaseC0007959 associated_with PMP22,CMT
9#14#gene5376227#237#diseaseC0442874 21194947-8#9#14#gene5376 21194947-8#227#237#diseaseC0442874 associated_with PMP22,neuropathy
9#14#gene5376140#143#diseaseC0007959 21194947-8#9#14#gene5376 21194947-8#140#143#diseaseC0007959 associated_with PMP22,CMT
9#14#gene5376227#237#diseaseC0442874 21194947-8#9#14#gene5376 21194947-8#227#237#diseaseC0442874 associated_with PMP22,neuropathy
103#108#gene5376227#237#diseaseC0442874 21194947-8#103#108#gene5376 21194947-8#227#237#diseaseC0442874 associated_with PMP22,neuropathy
103#108#gene5376140#143#diseaseC0007959 21194947-8#103#108#gene5376 21194947-8#140#143#diseaseC0007959 associated_with PMP22,CMT
103#108#gene5376227#237#diseaseC0442874 21194947-8#103#108#gene5376 21194947-8#227#237#diseaseC0442874 associated_with PMP22,neuropathy
103#108#gene5376140#143#diseaseC0007959 21194947-8#103#108#gene5376 21194947-8#140#143#diseaseC0007959 associated_with PMP22,CMT
103#108#gene5376227#237#diseaseC0442874 21194947-8#103#108#gene5376 21194947-8#227#237#diseaseC0442874 associated_with PMP22,neuropathy
181#186#gene5376227#237#diseaseC0442874 21194947-8#181#186#gene5376 21194947-8#227#237#diseaseC0442874 associated_with PMP22,neuropathy
181#186#gene5376140#143#diseaseC0007959 21194947-8#181#186#gene5376 21194947-8#140#143#diseaseC0007959 associated_with PMP22,CMT
181#186#gene5376227#237#diseaseC0442874 21194947-8#181#186#gene5376 21194947-8#227#237#diseaseC0442874 associated_with PMP22,neuropathy
181#186#gene5376140#143#diseaseC0007959 21194947-8#181#186#gene5376 21194947-8#140#143#diseaseC0007959 associated_with PMP22,CMT
181#186#gene5376227#237#diseaseC0442874 21194947-8#181#186#gene5376 21194947-8#227#237#diseaseC0442874 associated_with PMP22,neuropathy

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 545-601 ORDO:640 denotes hereditary neuropathy with liability to pressure palsies
AB2 603-607 ORDO:640 denotes HNPP