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PubMed:19381883 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-86 Sentence denotes Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation).
TextSentencer_T2 87-297 Sentence denotes Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause Charcot-Marie-Tooth type 2 (CMT2), a severe autosomal recessive form of neuropathy associated with axonal phenotypes.
TextSentencer_T3 298-447 Sentence denotes It has been screened in this study for the presence of mutations in the coding region of GDAP1, which maps to chromosome 8q21, in a family with CMT2.
TextSentencer_T4 448-542 Sentence denotes To date, 29 mutations in the GDAP1 have been reported in patients of different ethnic origins.
TextSentencer_T5 543-783 Sentence denotes Here, we report a novel missense mutation (c.836A>G), and two polymorphisms: a silent variant (c.102G>C), and a 5'-splice site mutation (IVS5+24C>T) in GDPA1 gene identified in a five generation Turkish family with autosomal recessive CMT2.
T1 0-86 Sentence denotes Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation).
T2 87-297 Sentence denotes Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause Charcot-Marie-Tooth type 2 (CMT2), a severe autosomal recessive form of neuropathy associated with axonal phenotypes.
T3 298-447 Sentence denotes It has been screened in this study for the presence of mutations in the coding region of GDAP1, which maps to chromosome 8q21, in a family with CMT2.
T4 448-542 Sentence denotes To date, 29 mutations in the GDAP1 have been reported in patients of different ethnic origins.
T5 543-783 Sentence denotes Here, we report a novel missense mutation (c.836A>G), and two polymorphisms: a silent variant (c.102G>C), and a 5'-splice site mutation (IVS5+24C>T) in GDPA1 gene identified in a five generation Turkish family with autosomal recessive CMT2.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 6-11 gene:54332 denotes GDAP1
T1 46-51 disease:C1842983 denotes CMT2K
T2 6-11 gene:54332 denotes GDAP1
T3 53-58 disease:C1842983 denotes CMT2K
T4 70-75 gene:54332 denotes GDAP1
T5 46-51 disease:C1842983 denotes CMT2K
T6 70-75 gene:54332 denotes GDAP1
T7 53-58 disease:C1842983 denotes CMT2K
T8 167-172 gene:54332 denotes GDAP1
T9 180-199 disease:C0007959 denotes Charcot-Marie-Tooth
T10 104-160 gene:54332 denotes ganglioside-induced differentiation-associated protein 1
T11 252-262 disease:C0442874 denotes neuropathy
T12 104-160 gene:54332 denotes ganglioside-induced differentiation-associated protein 1
T13 180-199 disease:C0007959 denotes Charcot-Marie-Tooth
T14 167-172 gene:54332 denotes GDAP1
T15 252-262 disease:C0442874 denotes neuropathy
T16 208-212 gene:23095 denotes CMT2
T17 180-199 disease:C0007959 denotes Charcot-Marie-Tooth
T18 208-212 gene:9587 denotes CMT2
T19 180-199 disease:C0007959 denotes Charcot-Marie-Tooth
T20 208-212 gene:23095 denotes CMT2
T21 252-262 disease:C0442874 denotes neuropathy
T22 208-212 gene:9587 denotes CMT2
T23 252-262 disease:C0442874 denotes neuropathy
R1 T0 T1 associated_with GDAP1,CMT2K
R2 T2 T3 associated_with GDAP1,CMT2K
R3 T4 T5 associated_with GDAP1,CMT2K
R4 T6 T7 associated_with GDAP1,CMT2K
R5 T8 T9 associated_with GDAP1,Charcot-Marie-Tooth
R6 T10 T11 associated_with ganglioside-induced differentiation-associated protein 1,neuropathy
R7 T12 T13 associated_with ganglioside-induced differentiation-associated protein 1,Charcot-Marie-Tooth
R8 T14 T15 associated_with GDAP1,neuropathy
R9 T16 T17 associated_with CMT2,Charcot-Marie-Tooth
R10 T18 T19 associated_with CMT2,Charcot-Marie-Tooth
R11 T20 T21 associated_with CMT2,neuropathy
R12 T22 T23 associated_with CMT2,neuropathy

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
19381883-1#121#125#gene23095 208-212 gene23095 denotes CMT2
19381883-1#121#125#gene9587 208-212 gene9587 denotes CMT2
19381883-1#121#125#gene23095 208-212 gene23095 denotes CMT2
19381883-1#121#125#gene9587 208-212 gene9587 denotes CMT2
19381883-1#17#73#gene54332 104-160 gene54332 denotes ganglioside-induced differentiation-associated protein 1
19381883-1#80#85#gene54332 167-172 gene54332 denotes GDAP1
19381883-1#93#112#diseaseC0007959 180-199 diseaseC0007959 denotes Charcot-Marie-Tooth
19381883-1#165#175#diseaseC0442874 252-262 diseaseC0442874 denotes neuropathy
19381883-1#93#112#diseaseC0007959 180-199 diseaseC0007959 denotes Charcot-Marie-Tooth
19381883-1#165#175#diseaseC0442874 252-262 diseaseC0442874 denotes neuropathy
121#125#gene2309593#112#diseaseC0007959 19381883-1#121#125#gene23095 19381883-1#93#112#diseaseC0007959 associated_with CMT2,Charcot-Marie-Tooth
121#125#gene23095165#175#diseaseC0442874 19381883-1#121#125#gene23095 19381883-1#165#175#diseaseC0442874 associated_with CMT2,neuropathy
121#125#gene2309593#112#diseaseC0007959 19381883-1#121#125#gene23095 19381883-1#93#112#diseaseC0007959 associated_with CMT2,Charcot-Marie-Tooth
121#125#gene23095165#175#diseaseC0442874 19381883-1#121#125#gene23095 19381883-1#165#175#diseaseC0442874 associated_with CMT2,neuropathy
121#125#gene958793#112#diseaseC0007959 19381883-1#121#125#gene9587 19381883-1#93#112#diseaseC0007959 associated_with CMT2,Charcot-Marie-Tooth
121#125#gene9587165#175#diseaseC0442874 19381883-1#121#125#gene9587 19381883-1#165#175#diseaseC0442874 associated_with CMT2,neuropathy
121#125#gene958793#112#diseaseC0007959 19381883-1#121#125#gene9587 19381883-1#93#112#diseaseC0007959 associated_with CMT2,Charcot-Marie-Tooth
121#125#gene9587165#175#diseaseC0442874 19381883-1#121#125#gene9587 19381883-1#165#175#diseaseC0442874 associated_with CMT2,neuropathy
121#125#gene2309593#112#diseaseC0007959 19381883-1#121#125#gene23095 19381883-1#93#112#diseaseC0007959 associated_with CMT2,Charcot-Marie-Tooth
121#125#gene23095165#175#diseaseC0442874 19381883-1#121#125#gene23095 19381883-1#165#175#diseaseC0442874 associated_with CMT2,neuropathy
121#125#gene2309593#112#diseaseC0007959 19381883-1#121#125#gene23095 19381883-1#93#112#diseaseC0007959 associated_with CMT2,Charcot-Marie-Tooth
121#125#gene23095165#175#diseaseC0442874 19381883-1#121#125#gene23095 19381883-1#165#175#diseaseC0442874 associated_with CMT2,neuropathy
121#125#gene958793#112#diseaseC0007959 19381883-1#121#125#gene9587 19381883-1#93#112#diseaseC0007959 associated_with CMT2,Charcot-Marie-Tooth
121#125#gene9587165#175#diseaseC0442874 19381883-1#121#125#gene9587 19381883-1#165#175#diseaseC0442874 associated_with CMT2,neuropathy
121#125#gene958793#112#diseaseC0007959 19381883-1#121#125#gene9587 19381883-1#93#112#diseaseC0007959 associated_with CMT2,Charcot-Marie-Tooth
121#125#gene9587165#175#diseaseC0442874 19381883-1#121#125#gene9587 19381883-1#165#175#diseaseC0442874 associated_with CMT2,neuropathy
17#73#gene5433293#112#diseaseC0007959 19381883-1#17#73#gene54332 19381883-1#93#112#diseaseC0007959 associated_with ganglioside-induced differentiation-associated protein 1,Charcot-Marie-Tooth
17#73#gene54332165#175#diseaseC0442874 19381883-1#17#73#gene54332 19381883-1#165#175#diseaseC0442874 associated_with ganglioside-induced differentiation-associated protein 1,neuropathy
17#73#gene5433293#112#diseaseC0007959 19381883-1#17#73#gene54332 19381883-1#93#112#diseaseC0007959 associated_with ganglioside-induced differentiation-associated protein 1,Charcot-Marie-Tooth
17#73#gene54332165#175#diseaseC0442874 19381883-1#17#73#gene54332 19381883-1#165#175#diseaseC0442874 associated_with ganglioside-induced differentiation-associated protein 1,neuropathy
80#85#gene5433293#112#diseaseC0007959 19381883-1#80#85#gene54332 19381883-1#93#112#diseaseC0007959 associated_with GDAP1,Charcot-Marie-Tooth
80#85#gene54332165#175#diseaseC0442874 19381883-1#80#85#gene54332 19381883-1#165#175#diseaseC0442874 associated_with GDAP1,neuropathy
80#85#gene5433293#112#diseaseC0007959 19381883-1#80#85#gene54332 19381883-1#93#112#diseaseC0007959 associated_with GDAP1,Charcot-Marie-Tooth
80#85#gene54332165#175#diseaseC0442874 19381883-1#80#85#gene54332 19381883-1#165#175#diseaseC0442874 associated_with GDAP1,neuropathy

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T2826 208-212 gene:23095 denotes CMT2
T2827 180-199 disease:C0007959 denotes Charcot-Marie-Tooth
T2828 252-262 disease:C0442874 denotes neuropathy
R1 T2826 T2827 associated_with CMT2,Charcot-Marie-Tooth
R2 T2826 T2827 associated_with CMT2,Charcot-Marie-Tooth
R3 T2826 T2828 associated_with CMT2,neuropathy
R4 T2826 T2828 associated_with CMT2,neuropathy