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PubMed:22295085 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 42-45 gene:4771 denotes NF2
T1 63-85 disease:C0027859 denotes vestibular schwannomas
R1 T0 T1 associated_with NF2,vestibular schwannomas

Allie

Id Subject Object Predicate Lexical cue
SS1_22295085_2_0 116-140 expanded denotes neurofibromatosis type 2
SS2_22295085_2_0 142-145 abbr denotes NF2
SS1_22295085_2_1 239-261 expanded denotes vestibular schwannomas
SS2_22295085_2_1 263-265 abbr denotes VS
SS1_22295085_5_0 627-649 expanded denotes loss of heterozygosity
SS2_22295085_5_0 651-654 abbr denotes LOH
AE1_22295085_2_0 SS1_22295085_2_0 SS2_22295085_2_0 abbreviatedTo neurofibromatosis type 2,NF2
AE1_22295085_2_1 SS1_22295085_2_1 SS2_22295085_2_1 abbreviatedTo vestibular schwannomas,VS
AE1_22295085_5_0 SS1_22295085_5_0 SS2_22295085_5_0 abbreviatedTo loss of heterozygosity,LOH

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 116-133 HP_0001067 denotes neurofibromatosis
T2 147-152 HP_0002664 denotes tumor
T3 214-220 HP_0002664 denotes tumors
T4 239-261 HP_0009588 denotes vestibular schwannomas
T5 250-261 HP_0100008 denotes schwannomas
T6 334-340 HP_0002664 denotes tumors
T7 430-435 HP_0002664 denotes tumor

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
22295085-0#42#45#gene4771 461-481 gene4771 denotes NCIPAL FINDINGS: NF2
22295085-0#63#85#diseaseC0027859 817-1264 diseaseC0027859 denotes ve activity assessed using the Ki-67 labeling index were evaluated. We found 18 mutations in 16 cases of 30 schwannomas (53%). The mutations included eight frameshift mutations, seven nonsense mutations, one in-frame deletion, one splicing donor site, and one missense mutation. Nine patients (30%) showed allelic loss. No patient had aberrant hypermethylation of the NF2 gene and correlation between NF2 genetic alterations and tumor behavior was
42#45#gene477163#85#diseaseC0027859 22295085-0#42#45#gene4771 22295085-0#63#85#diseaseC0027859 associated_with NCIPAL FINDINGS: NF2,"ve activity assessed using the Ki-67 labeling index were evaluated. We found 18 mutations in 16 cases of 30 schwannomas (53%). The mutations included eight frameshift mutations, seven nonsense mutations, one in-frame deletion, one splicing donor site, and one missense mutation. Nine patients (30%) showed allelic loss. No patient had aberrant hypermethylation of the NF2 gene and correlation between NF2 genetic alterations and tumor behavior was"