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PubMed:8325950 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 52-69 gene:367 denotes androgen receptor
T1 102-134 disease:C0039585 denotes androgen insensitivity syndromes
R1 T0 T1 associated_with androgen receptor,androgen insensitivity syndromes

jnlpba-st-training

Id Subject Object Predicate Lexical cue
T1 52-74 DNA denotes androgen receptor gene
T2 242-264 DNA denotes androgen receptor gene
T3 505-527 DNA denotes androgen receptor gene
T4 653-680 cell_type denotes peripheral blood leukocytes
T5 776-788 DNA denotes Exons 2 to 8
T6 796-818 DNA denotes androgen receptor gene
T7 1030-1037 DNA denotes AR gene
T8 1387-1409 DNA denotes androgen receptor gene
T9 1505-1519 DNA denotes variant allele

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
8325950-0#52#69#gene367 52-69 gene367 denotes androgen receptor
8325950-0#102#134#diseaseC0039585 102-134 diseaseC0039585 denotes androgen insensitivity syndromes
52#69#gene367102#134#diseaseC0039585 8325950-0#52#69#gene367 8325950-0#102#134#diseaseC0039585 associated_with androgen receptor,androgen insensitivity syndromes

pubmed-sentences-benchmark

Id Subject Object Predicate Lexical cue
S1 0-195 Sentence denotes Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy.
S2 196-425 Sentence denotes Recent studies indicate that mutations in the androgen receptor gene are associated with androgen insensitivity syndromes, a heterogeneous group of related disorders involving defective sexual differentiation in karyotypic males.
S3 426-643 Sentence denotes In this report, we address the possibility of rapid mutational analysis of the androgen receptor gene for initial diagnosis, genetic counseling, and molecular subclassification of affected patients and their families.
S4 644-775 Sentence denotes DNA from peripheral blood leukocytes of six patients from five families with various degrees of androgen insensitivity was studied.
S5 776-931 Sentence denotes Exons 2 to 8 of the androgen receptor gene were analyzed using a combination of single strand conformation polymorphism analysis and direct DNA sequencing.
S6 932-1006 Sentence denotes Female family members were also studied to identify heterozygote carriers.
S7 1007-1125 Sentence denotes Point mutations in the AR gene were identified in all six patients, and all mutations caused amino acid substitutions.
S8 1126-1207 Sentence denotes One patient with incomplete androgen insensitivity was a mosaic for the mutation.
S9 1208-1336 Sentence denotes Four of the five mothers, as well as a young sister of one patient, were carriers of the mutation present in the affected child.
S10 1337-1462 Sentence denotes Our data show that new mutations may occur in the androgen receptor gene leading to sporadic androgen insensitivity syndrome.
S11 1463-1683 Sentence denotes Molecular genetic characterization of the variant allele can serve as a primary tool for diagnosis and subsequent therapy, and can provide a basis for distinguishing heterozygous carriers in familial androgen resistance.
S12 1684-1776 Sentence denotes The identification of carriers is of substantial clinical importance for genetic counseling.

genia-medco-coref

Id Subject Object Predicate Lexical cue
C1 0-48 NP denotes Single strand conformation polymorphism analysis
C2 52-96 NP denotes androgen receptor gene mutations in patients
C3 102-134 NP denotes androgen insensitivity syndromes
C5 238-264 NP denotes the androgen receptor gene
C4 225-264 NP denotes mutations in the androgen receptor gene
C6 285-317 NP denotes androgen insensitivity syndromes
C7 319-424 NP denotes a heterogeneous group of related disorders involving defective sexual differentiation in karyotypic males
C8 501-527 NP denotes the androgen receptor gene
C9 606-623 NP denotes affected patients
C10 628-633 NP denotes their
C11 684-762 NP denotes six patients from five families with various degrees of androgen insensitivity
C12 792-818 NP denotes the androgen receptor gene
C13 856-904 NP denotes single strand conformation polymorphism analysis
C14 932-953 NP denotes Female family members
C15 1057-1073 NP denotes all six patients
C16 1126-1176 NP denotes One patient with incomplete androgen insensitivity
C18 1216-1232 NP denotes the five mothers
C19 1263-1274 NP denotes one patient
C17 1208-1274 NP denotes Four of the five mothers, as well as a young sister of one patient
C20 1383-1409 NP denotes the androgen receptor gene
R1 C4 C2 coref-ident mutations in the androgen receptor gene,androgen receptor gene mutations in patients
R2 C6 C3 coref-ident androgen insensitivity syndromes,androgen insensitivity syndromes
R3 C7 C6 coref-appos a heterogeneous group of related disorders involving defective sexual differentiation in karyotypic males,androgen insensitivity syndromes
R4 C8 C5 coref-ident the androgen receptor gene,the androgen receptor gene
R5 C10 C9 coref-pron their,affected patients
R6 C11 C9 coref-part-whole six patients from five families with various degrees of androgen insensitivity,affected patients
R7 C12 C8 coref-ident the androgen receptor gene,the androgen receptor gene
R8 C13 C1 coref-ident single strand conformation polymorphism analysis,Single strand conformation polymorphism analysis
R9 C14 C11 coref-part-whole Female family members,six patients from five families with various degrees of androgen insensitivity
R10 C15 C11 coref-ident all six patients,six patients from five families with various degrees of androgen insensitivity
R11 C16 C15 coref-part-whole One patient with incomplete androgen insensitivity,all six patients
R12 C18 C14 coref-part-whole the five mothers,Female family members
R13 C19 C15 coref-part-whole one patient,all six patients
R14 C17 C14 coref-part-whole "Four of the five mothers, as well as a young sister of one patient",Female family members
R15 C20 C12 coref-ident the androgen receptor gene,the androgen receptor gene

GENIAcorpus

Id Subject Object Predicate Lexical cue
T1 0-48 other_name denotes Single strand conformation polymorphism analysis
T2 52-69 protein_family_or_group denotes androgen receptor
T3 88-96 multi_cell denotes patients
T4 102-134 other_name denotes androgen insensitivity syndromes
T5 152-161 other_name denotes diagnosis
T6 163-181 other_name denotes genetic counseling
T7 187-194 other_name denotes therapy
T8 225-234 other_name denotes mutations
T9 242-264 DNA_molecule denotes androgen receptor gene
T10 285-293 lipid denotes androgen
T11 408-424 multi_cell denotes karyotypic males
T12 505-522 protein_family_or_group denotes androgen receptor
T13 615-623 multi_cell denotes patients
T14 653-680 cell_type denotes peripheral blood leukocytes
T15 688-696 multi_cell denotes patients
T16 740-762 other_name denotes androgen insensitivity
T17 776-788 DNA_domain_or_region denotes Exons 2 to 8
T18 796-818 DNA_domain_or_region denotes androgen receptor gene
T19 856-904 other_name denotes single strand conformation polymorphism analysis
T20 909-930 other_name denotes direct DNA sequencing
T21 932-953 multi_cell denotes Female family members
T22 984-1005 multi_cell denotes heterozygote carriers
T23 1007-1022 other_name denotes Point mutations
T24 1030-1037 DNA_domain_or_region denotes AR gene
T25 1065-1073 multi_cell denotes patients
T26 1083-1092 other_name denotes mutations
T27 1100-1124 other_name denotes amino acid substitutions
T28 1130-1137 multi_cell denotes patient
T29 1143-1176 other_name denotes incomplete androgen insensitivity
T30 1225-1232 multi_cell denotes mothers
T31 1247-1259 multi_cell denotes young sister
T32 1267-1274 multi_cell denotes patient
T33 1297-1305 other_name denotes mutation
T34 1321-1335 multi_cell denotes affected child
T35 1360-1369 other_name denotes mutations
T36 1387-1409 DNA_domain_or_region denotes androgen receptor gene
T37 1421-1461 other_name denotes sporadic androgen insensitivity syndrome
T38 1505-1519 DNA_family_or_group denotes variant allele
T39 1629-1650 multi_cell denotes heterozygous carriers
T40 1654-1682 other_name denotes familial androgen resistance