> top > docs > PubMed:8566951 > annotations

PubMed:8566951 JSONTXT

Annnotations TAB JSON ListView MergeView

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-128 Sentence denotes Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9.
TextSentencer_T2 129-255 Sentence denotes Campomelic dysplasia (CMPD1) and autosomal XY sex reversal (SRA1) are caused by mutations in the SRY-related gene SOX9 on 17q.
TextSentencer_T3 256-389 Sentence denotes Unexpectedly, the 17q breakpoints in four CMPD1 translocation cases previously analyzed by us and others map 50 kb or more from SOX9.
TextSentencer_T4 390-501 Sentence denotes Here, we present clinical, cytogenetic, and molecular data from a new CMPD1/SRA1 patient with t(6;17)(q14;q24).
TextSentencer_T5 502-687 Sentence denotes Fluorescence in situ hybridization has shown that the 17q breakpoint in this case maps to the same region as the breakpoints in the other translocation cases, at least 130 kb from SOX9.
TextSentencer_T6 688-876 Sentence denotes Likewise, the breakpoints in two of the previously described cases also map more than 130 kb and, as shown by pulsed field gel electrophoresis analysis, at most 400 kb or 690 kb from SOX9.
TextSentencer_T7 877-1092 Sentence denotes By using a SOX9 coding sequence polymorphism, expression of both SOX9 alleles has been demonstrated by the reverse transcriptase polymerase chain reaction in lymphoblastoid cells from one of the translocation cases.
T1 0-128 Sentence denotes Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9.
T2 129-255 Sentence denotes Campomelic dysplasia (CMPD1) and autosomal XY sex reversal (SRA1) are caused by mutations in the SRY-related gene SOX9 on 17q.
T3 256-389 Sentence denotes Unexpectedly, the 17q breakpoints in four CMPD1 translocation cases previously analyzed by us and others map 50 kb or more from SOX9.
T4 390-501 Sentence denotes Here, we present clinical, cytogenetic, and molecular data from a new CMPD1/SRA1 patient with t(6;17)(q14;q24).
T5 502-687 Sentence denotes Fluorescence in situ hybridization has shown that the 17q breakpoint in this case maps to the same region as the breakpoints in the other translocation cases, at least 130 kb from SOX9.
T6 688-876 Sentence denotes Likewise, the breakpoints in two of the previously described cases also map more than 130 kb and, as shown by pulsed field gel electrophoresis analysis, at most 400 kb or 690 kb from SOX9.
T7 877-1092 Sentence denotes By using a SOX9 coding sequence polymorphism, expression of both SOX9 alleles has been demonstrated by the reverse transcriptase polymerase chain reaction in lymphoblastoid cells from one of the translocation cases.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 123-127 gene:6662 denotes SOX9
T1 49-69 disease:C1861922 denotes campomelic dysplasia
T2 384-388 gene:6662 denotes SOX9
T3 298-303 disease:C1861922 denotes CMPD1
R1 T0 T1 associated_with SOX9,campomelic dysplasia
R2 T2 T3 associated_with SOX9,CMPD1

jnlpba-st-training

Id Subject Object Predicate Lexical cue
T1 0-25 DNA denotes Translocation breakpoints
T2 123-127 DNA denotes SOX9
T3 226-242 DNA denotes SRY-related gene
T4 243-247 DNA denotes SOX9
T5 251-254 DNA denotes 17q
T6 274-289 DNA denotes 17q breakpoints
T7 384-388 DNA denotes SOX9
T8 484-500 DNA denotes t(6;17)(q14;q24)
T9 556-570 DNA denotes 17q breakpoint
T10 682-686 DNA denotes SOX9
T11 871-875 DNA denotes SOX9
T12 888-921 DNA denotes SOX9 coding sequence polymorphism
T13 942-946 DNA denotes SOX9
T14 984-1005 protein denotes reverse transcriptase
T15 1035-1055 cell_type denotes lymphoblastoid cells

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
8566951-0#123#127#gene6662 123-127 gene6662 denotes SOX9
8566951-0#49#69#diseaseC1861922 49-69 diseaseC1861922 denotes campomelic dysplasia
8566951-1#60#64#gene10011 189-193 gene10011 denotes SRA1
8566951-1#97#100#gene6736 226-229 gene6736 denotes SRY
8566951-1#0#20#diseaseC1861922 129-149 diseaseC1861922 denotes Campomelic dysplasia
8566951-1#22#27#diseaseC1861922 151-156 diseaseC1861922 denotes CMPD1
8566951-1#0#20#diseaseC1861922 129-149 diseaseC1861922 denotes Campomelic dysplasia
8566951-1#22#27#diseaseC1861922 151-156 diseaseC1861922 denotes CMPD1
123#127#gene666249#69#diseaseC1861922 8566951-0#123#127#gene6662 8566951-0#49#69#diseaseC1861922 associated_with SOX9,campomelic dysplasia
60#64#gene100110#20#diseaseC1861922 8566951-1#60#64#gene10011 8566951-1#0#20#diseaseC1861922 associated_with SRA1,Campomelic dysplasia
60#64#gene1001122#27#diseaseC1861922 8566951-1#60#64#gene10011 8566951-1#22#27#diseaseC1861922 associated_with SRA1,CMPD1
60#64#gene100110#20#diseaseC1861922 8566951-1#60#64#gene10011 8566951-1#0#20#diseaseC1861922 associated_with SRA1,Campomelic dysplasia
60#64#gene1001122#27#diseaseC1861922 8566951-1#60#64#gene10011 8566951-1#22#27#diseaseC1861922 associated_with SRA1,CMPD1
97#100#gene67360#20#diseaseC1861922 8566951-1#97#100#gene6736 8566951-1#0#20#diseaseC1861922 associated_with SRY,Campomelic dysplasia
97#100#gene673622#27#diseaseC1861922 8566951-1#97#100#gene6736 8566951-1#22#27#diseaseC1861922 associated_with SRY,CMPD1
97#100#gene67360#20#diseaseC1861922 8566951-1#97#100#gene6736 8566951-1#0#20#diseaseC1861922 associated_with SRY,Campomelic dysplasia
97#100#gene673622#27#diseaseC1861922 8566951-1#97#100#gene6736 8566951-1#22#27#diseaseC1861922 associated_with SRY,CMPD1

pubmed-sentences-benchmark

Id Subject Object Predicate Lexical cue
S1 0-128 Sentence denotes Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9.
S2 129-255 Sentence denotes Campomelic dysplasia (CMPD1) and autosomal XY sex reversal (SRA1) are caused by mutations in the SRY-related gene SOX9 on 17q.
S3 256-389 Sentence denotes Unexpectedly, the 17q breakpoints in four CMPD1 translocation cases previously analyzed by us and others map 50 kb or more from SOX9.
S4 390-501 Sentence denotes Here, we present clinical, cytogenetic, and molecular data from a new CMPD1/SRA1 patient with t(6;17)(q14;q24).
S5 502-687 Sentence denotes Fluorescence in situ hybridization has shown that the 17q breakpoint in this case maps to the same region as the breakpoints in the other translocation cases, at least 130 kb from SOX9.
S6 688-876 Sentence denotes Likewise, the breakpoints in two of the previously described cases also map more than 130 kb and, as shown by pulsed field gel electrophoresis analysis, at most 400 kb or 690 kb from SOX9.
S7 877-1092 Sentence denotes By using a SOX9 coding sequence polymorphism, expression of both SOX9 alleles has been demonstrated by the reverse transcriptase polymerase chain reaction in lymphoblastoid cells from one of the translocation cases.

genia-medco-coref

Id Subject Object Predicate Lexical cue
C1 49-69 NP denotes campomelic dysplasia
C2 74-96 NP denotes autosomal sex reversal
C3 123-127 NP denotes SOX9
C4 129-157 NP denotes Campomelic dysplasia (CMPD1)
C5 162-194 NP denotes autosomal XY sex reversal (SRA1)
C7 251-254 NP denotes 17q
C6 222-254 NP denotes the SRY-related gene SOX9 on 17q
C8 270-360 NP denotes the 17q breakpoints in four CMPD1 translocation cases previously analyzed by us and others
C10 384-388 NP denotes SOX9
C9 365-388 NP denotes 50 kb or more from SOX9
C11 454-500 NP denotes a new CMPD1/SRA1 patient with t(6;17)(q14;q24)
C12 574-583 NP denotes this case
C13 592-607 NP denotes the same region
C14 611-659 NP denotes the breakpoints in the other translocation cases
C15 682-686 NP denotes SOX9
C16 871-875 NP denotes SOX9
R1 C4 C1 coref-ident Campomelic dysplasia (CMPD1),campomelic dysplasia
R2 C5 C2 coref-ident autosomal XY sex reversal (SRA1),autosomal sex reversal
R3 C6 C3 coref-ident the SRY-related gene SOX9 on 17q,SOX9
R4 C10 C6 coref-ident SOX9,the SRY-related gene SOX9 on 17q
R5 C12 C11 coref-ident this case,a new CMPD1/SRA1 patient with t(6;17)(q14;q24)
R6 C13 C9 coref-ident the same region,50 kb or more from SOX9
R7 C14 C8 coref-ident the breakpoints in the other translocation cases,the 17q breakpoints in four CMPD1 translocation cases previously analyzed by us and others
R8 C15 C10 coref-ident SOX9,SOX9
R9 C16 C15 coref-ident SOX9,SOX9

GENIAcorpus

Id Subject Object Predicate Lexical cue
T1 0-25 DNA_domain_or_region denotes Translocation breakpoints
T2 35-43 multi_cell denotes patients
T3 49-69 other_name denotes campomelic dysplasia
T4 74-96 other_name denotes autosomal sex reversal
T5 111-117 polynucleotide denotes 130 kb
T6 123-127 DNA_domain_or_region denotes SOX9
T7 129-149 other_name denotes Campomelic dysplasia
T8 151-156 other_name denotes CMPD1
T9 162-187 other_name denotes autosomal XY sex reversal
T10 189-193 other_name denotes SRA1
T11 226-242 DNA_domain_or_region denotes SRY-related gene
T12 243-247 DNA_domain_or_region denotes SOX9
T13 251-254 DNA_molecule denotes 17q
T14 274-277 DNA_molecule denotes 17q
T15 298-303 other_name denotes CMPD1
T16 365-370 polynucleotide denotes 50 kb
T17 384-388 DNA_domain_or_region denotes SOX9
T18 460-465 other_name denotes CMPD1
T19 465-470 other_name denotes /SRA1
T20 484-500 DNA_domain_or_region denotes t(6;17)(q14;q24)
T21 502-536 other_name denotes Fluorescence in situ hybridization
T22 556-559 DNA_molecule denotes 17q
T23 640-659 other_name denotes translocation cases
T24 670-676 polynucleotide denotes 130 kb
T25 682-686 DNA_domain_or_region denotes SOX9
T26 774-780 polynucleotide denotes 130 kb
T27 798-839 other_name denotes pulsed field gel electrophoresis analysis
T28 849-855 polynucleotide denotes 400 kb
T29 859-865 polynucleotide denotes 690 kb
T30 871-875 DNA_domain_or_region denotes SOX9
T31 888-892 DNA_domain_or_region denotes SOX9
T32 942-946 DNA_domain_or_region denotes SOX9
T33 984-1005 protein_molecule denotes reverse transcriptase
T34 1035-1055 cell_type denotes lymphoblastoid cells
T35 1072-1091 other_name denotes translocation cases

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 175-187 HP:0012245 denotes sex reversal
TI1 84-96 HP:0012245 denotes sex reversal

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 129-149 ORDO:140 denotes Campomelic dysplasia
TI1 49-69 ORDO:140 denotes campomelic dysplasia