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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
28642124_0 2182-2190 ProteinMutation denotes Pro67Ala rs557874766

c_corpus

Id Subject Object Predicate Lexical cue
T5 51-71 D006816 denotes Huntington's disease
T6 51-71 D006816 denotes Huntington's disease
T9 64-83 D018450 denotes disease progression
T10 64-83 D018450 denotes disease progression
T11 87-93 SO:0001026 denotes genome
T16 130-150 D006816 denotes Huntington's disease
T17 130-150 D006816 denotes Huntington's disease
T20 166-169 CVCL_D569 denotes CAG
T21 170-176 SO:0001068 denotes repeat
T22 194-204 P42858 denotes huntingtin
T23 194-204 P42859 denotes huntingtin
T24 194-204 P51111 denotes huntingtin
T25 194-204 PR:000008840 denotes huntingtin
T26 194-204 P51112 denotes huntingtin
T27 205-209 SO:0000704 denotes gene
T28 211-214 PR:P51111 denotes HTT
T29 211-214 PR:000015189 denotes HTT
T30 211-214 PR:Q76P24 denotes HTT
T31 211-214 PR:P31645 denotes HTT
T32 211-214 PR:P42859 denotes HTT
T33 211-214 PR:Q60857 denotes HTT
T34 211-214 PR:P42858 denotes HTT
T35 211-214 PR:000008840 denotes HTT
T40 303-323 D006816 denotes Huntington's disease
T41 303-323 D006816 denotes Huntington's disease
T46 434-453 D018450 denotes disease progression
T47 434-453 D018450 denotes disease progression
T48 470-485 D005819 denotes genetic markers
T49 470-485 D005819 denotes genetic markers
T50 564-569 SO:0001685 denotes score
T51 742-748 CHEBI:34935 denotes cohort
T56 752-772 D006816 denotes Huntington's disease
T57 752-772 D006816 denotes Huntington's disease
T60 773-777 SO:0000704 denotes gene
T61 778-786 SO:0000109 denotes mutation
T62 787-795 CHEBI:78059 denotes carriers
T63 858-863 SO:0001685 denotes score
T68 937-957 D006816 denotes Huntington's Disease
T69 937-957 D006816 denotes Huntington's Disease
T76 984-1004 D006816 denotes Huntington's disease
T77 984-1004 D006816 denotes Huntington's disease
T80 1005-1013 SO:0000109 denotes mutation
T81 1014-1022 CHEBI:78059 denotes carriers
T82 1058-1064 SO:0001026 denotes genome
T83 1184-1188 PR:000023208 denotes meta
T84 1184-1188 PR:P07623 denotes meta
T85 1383-1389 SO:0000417 denotes domain
T88 1401-1420 D018450 denotes disease progression
T89 1401-1420 D018450 denotes disease progression
T90 1594-1598 PR:000023208 denotes meta
T91 1594-1598 PR:P07623 denotes meta
T92 1655-1661 SO:0001026 denotes genome
T93 1679-1685 SO:0000725 denotes signal
T94 1679-1685 SO:0000418 denotes signal
T95 1708-1718 GO:0005694 denotes chromosome
T96 1708-1718 SO:0000340 denotes chromosome
T98 1743-1746 CHEBI:16768 denotes MSH
T102 1743-1746 D009074 denotes MSH
T103 1743-1746 D009074 denotes MSH
T104 1743-1747 PR:O65607 denotes MSH3
T105 1743-1747 PR:000010667 denotes MSH3
T106 1743-1747 PR:Q59Y41 denotes MSH3
T107 1743-1747 PR:P25336 denotes MSH3
T108 1743-1747 PR:P20585 denotes MSH3
T109 1743-1747 PR:P26359 denotes MSH3
T110 1743-1747 PR:P13705 denotes MSH3
T111 1743-1747 PR:Q1ZXH0 denotes MSH3
T112 1749-1753 PR:P00374 denotes DHFR
T113 1749-1753 PR:Q920D2 denotes DHFR
T114 1749-1753 A8A0E8 denotes DHFR
T115 1749-1753 Q6GGY1 denotes DHFR
T116 1749-1753 Q320W2 denotes DHFR
T117 1749-1753 Q83RC9 denotes DHFR
T118 1749-1753 B1IQY4 denotes DHFR
T119 1749-1753 PR:000006844 denotes DHFR
T121 1749-1753 P0C0P0 denotes DHFR
T122 1749-1753 A4W9Z4 denotes DHFR
T123 1749-1753 P0AFS4 denotes DHFR
T124 1749-1753 P0AFS3 denotes DHFR
T125 1749-1753 A6T8N3 denotes DHFR
T126 1749-1753 PR:P17719 denotes DHFR
T127 1749-1753 Q8FHB1 denotes DHFR
T128 1749-1753 PR:P00376 denotes DHFR
T129 1749-1753 Q0T4H1 denotes DHFR
T130 1749-1753 Q5HPB1 denotes DHFR
T131 1749-1753 PR:P00378 denotes DHFR
T132 1749-1753 B1LET0 denotes DHFR
T133 1749-1753 Q6G9D5 denotes DHFR
T134 1749-1753 Q8NWQ9 denotes DHFR
T135 1749-1753 Q5HFZ7 denotes DHFR
T136 1749-1753 Q32G72 denotes DHFR
T137 1749-1753 P0A017 denotes DHFR
T138 1749-1753 A8AGY5 denotes DHFR
T139 1749-1753 A7ZM66 denotes DHFR
T140 1749-1753 Q60034 denotes DHFR
T141 1749-1753 A1ABF1 denotes DHFR
T142 1749-1753 Q0THM2 denotes DHFR
T143 1749-1753 PR:P00375 denotes DHFR
T144 1749-1753 Q3Z1V9 denotes DHFR
T145 1749-1753 Q1RBJ2 denotes DHFR
T146 1749-1753 P0C0P1 denotes DHFR
T147 1749-1753 P99079 denotes DHFR
T148 1749-1753 PR:000022681 denotes DHFR
T149 1749-1753 P0A016 denotes DHFR
T120 1749-1753 GO:0004146 denotes DHFR
T150 1759-1767 PR:P0CJ69 denotes MTRNR2L2
T151 1759-1767 PR:000031623 denotes MTRNR2L2
T153 1839-1842 CHEBI:16768 denotes MSH
T157 1839-1842 D009074 denotes MSH
T158 1839-1842 D009074 denotes MSH
T159 1839-1843 PR:O65607 denotes MSH3
T160 1839-1843 PR:000010667 denotes MSH3
T161 1839-1843 PR:Q59Y41 denotes MSH3
T162 1839-1843 PR:P25336 denotes MSH3
T163 1839-1843 PR:P20585 denotes MSH3
T164 1839-1843 PR:P26359 denotes MSH3
T165 1839-1843 PR:P13705 denotes MSH3
T166 1839-1843 PR:Q1ZXH0 denotes MSH3
T167 1859-1863 PR:P00374 denotes DHFR
T168 1859-1863 PR:Q920D2 denotes DHFR
T169 1859-1863 A8A0E8 denotes DHFR
T170 1859-1863 Q6GGY1 denotes DHFR
T171 1859-1863 Q320W2 denotes DHFR
T172 1859-1863 Q83RC9 denotes DHFR
T173 1859-1863 B1IQY4 denotes DHFR
T174 1859-1863 PR:000006844 denotes DHFR
T176 1859-1863 P0C0P0 denotes DHFR
T177 1859-1863 A4W9Z4 denotes DHFR
T178 1859-1863 P0AFS4 denotes DHFR
T179 1859-1863 P0AFS3 denotes DHFR
T180 1859-1863 A6T8N3 denotes DHFR
T181 1859-1863 PR:P17719 denotes DHFR
T182 1859-1863 Q8FHB1 denotes DHFR
T183 1859-1863 PR:P00376 denotes DHFR
T184 1859-1863 Q0T4H1 denotes DHFR
T185 1859-1863 Q5HPB1 denotes DHFR
T186 1859-1863 PR:P00378 denotes DHFR
T187 1859-1863 B1LET0 denotes DHFR
T188 1859-1863 Q6G9D5 denotes DHFR
T189 1859-1863 Q8NWQ9 denotes DHFR
T190 1859-1863 Q5HFZ7 denotes DHFR
T191 1859-1863 Q32G72 denotes DHFR
T192 1859-1863 P0A017 denotes DHFR
T193 1859-1863 A8AGY5 denotes DHFR
T194 1859-1863 A7ZM66 denotes DHFR
T195 1859-1863 Q60034 denotes DHFR
T196 1859-1863 A1ABF1 denotes DHFR
T197 1859-1863 Q0THM2 denotes DHFR
T198 1859-1863 PR:P00375 denotes DHFR
T199 1859-1863 Q3Z1V9 denotes DHFR
T200 1859-1863 Q1RBJ2 denotes DHFR
T201 1859-1863 P0C0P1 denotes DHFR
T202 1859-1863 P99079 denotes DHFR
T203 1859-1863 PR:000022681 denotes DHFR
T204 1859-1863 P0A016 denotes DHFR
T175 1859-1863 GO:0004146 denotes DHFR
T205 1880-1888 PR:P0CJ69 denotes MTRNR2L2
T206 1880-1888 PR:000031623 denotes MTRNR2L2
T209 1942-1945 CHEBI:16768 denotes MSH
T213 1942-1945 D009074 denotes MSH
T214 1942-1945 D009074 denotes MSH
T215 1942-1946 PR:O65607 denotes MSH3
T216 1942-1946 PR:000010667 denotes MSH3
T217 1942-1946 PR:Q59Y41 denotes MSH3
T218 1942-1946 PR:P25336 denotes MSH3
T219 1942-1946 PR:P20585 denotes MSH3
T220 1942-1946 PR:P26359 denotes MSH3
T221 1942-1946 PR:P13705 denotes MSH3
T222 1942-1946 PR:Q1ZXH0 denotes MSH3
T223 1962-1966 PR:P00374 denotes DHFR
T224 1962-1966 PR:Q920D2 denotes DHFR
T225 1962-1966 A8A0E8 denotes DHFR
T226 1962-1966 Q6GGY1 denotes DHFR
T227 1962-1966 Q320W2 denotes DHFR
T228 1962-1966 Q83RC9 denotes DHFR
T229 1962-1966 B1IQY4 denotes DHFR
T230 1962-1966 PR:000006844 denotes DHFR
T232 1962-1966 P0C0P0 denotes DHFR
T233 1962-1966 A4W9Z4 denotes DHFR
T234 1962-1966 P0AFS4 denotes DHFR
T235 1962-1966 P0AFS3 denotes DHFR
T236 1962-1966 A6T8N3 denotes DHFR
T237 1962-1966 PR:P17719 denotes DHFR
T238 1962-1966 Q8FHB1 denotes DHFR
T239 1962-1966 PR:P00376 denotes DHFR
T240 1962-1966 Q0T4H1 denotes DHFR
T241 1962-1966 Q5HPB1 denotes DHFR
T242 1962-1966 PR:P00378 denotes DHFR
T243 1962-1966 B1LET0 denotes DHFR
T244 1962-1966 Q6G9D5 denotes DHFR
T245 1962-1966 Q8NWQ9 denotes DHFR
T246 1962-1966 Q5HFZ7 denotes DHFR
T247 1962-1966 Q32G72 denotes DHFR
T248 1962-1966 P0A017 denotes DHFR
T249 1962-1966 A8AGY5 denotes DHFR
T250 1962-1966 A7ZM66 denotes DHFR
T251 1962-1966 Q60034 denotes DHFR
T252 1962-1966 A1ABF1 denotes DHFR
T253 1962-1966 Q0THM2 denotes DHFR
T254 1962-1966 PR:P00375 denotes DHFR
T255 1962-1966 Q3Z1V9 denotes DHFR
T256 1962-1966 Q1RBJ2 denotes DHFR
T257 1962-1966 P0C0P1 denotes DHFR
T258 1962-1966 P99079 denotes DHFR
T259 1962-1966 PR:000022681 denotes DHFR
T260 1962-1966 P0A016 denotes DHFR
T231 1962-1966 GO:0004146 denotes DHFR
T261 1982-1990 PR:P0CJ69 denotes MTRNR2L2
T262 1982-1990 PR:000031623 denotes MTRNR2L2
T263 2018-2048 SO:0000694 denotes single nucleotide polymorphism
T264 2025-2035 CHEBI:36976 denotes nucleotide
T266 2050-2053 P86981 denotes SNP
T267 2050-2053 SO:0000694 denotes SNP
T265 2050-2053 CVCL_IP76 denotes SNP
T268 2085-2091 SO:0001026 denotes genome
T269 2116-2120 PR:000023208 denotes meta
T270 2116-2120 PR:P07623 denotes meta
T272 2182-2185 CHEBI:32871 denotes Pro
T273 2182-2185 CHEBI:32865 denotes Pro
T274 2182-2185 CHEBI:50342 denotes Pro
T276 2182-2185 CHEBI:32866 denotes Pro
T275 2182-2185 SO:0001439 denotes Pro
T271 2182-2185 CVCL_N817 denotes Pro
T277 2187-2190 CHEBI:32433 denotes Ala
T279 2187-2190 CHEBI:32434 denotes Ala
T280 2187-2190 CHEBI:16977 denotes Ala
T281 2187-2190 CHEBI:46217 denotes Ala
T283 2187-2190 CHEBI:27432 denotes Ala
T284 2187-2190 CHEBI:16449 denotes Ala
T285 2187-2190 UBERON:3010458 denotes Ala
T282 2187-2190 SO:0001435 denotes Ala
T278 2187-2190 CVCL_J358 denotes Ala
T287 2195-2198 CHEBI:16768 denotes MSH
T291 2195-2198 D009074 denotes MSH
T292 2195-2198 D009074 denotes MSH
T293 2195-2199 PR:O65607 denotes MSH3
T294 2195-2199 PR:000010667 denotes MSH3
T295 2195-2199 PR:Q59Y41 denotes MSH3
T296 2195-2199 PR:P25336 denotes MSH3
T297 2195-2199 PR:P20585 denotes MSH3
T298 2195-2199 PR:P26359 denotes MSH3
T299 2195-2199 PR:P13705 denotes MSH3
T300 2195-2199 PR:Q1ZXH0 denotes MSH3
T301 2237-2243 SO:0001023 denotes allele
T303 2252-2255 P86981 denotes SNP
T302 2252-2255 CVCL_IP76 denotes SNP
T304 2252-2255 SO:0000694 denotes SNP
T305 2316-2325 MOP:0000569 denotes reduction
T310 2363-2383 D006816 denotes Huntington's Disease
T311 2363-2383 D006816 denotes Huntington's Disease
T314 2430-2439 MOP:0000569 denotes reduction
T315 2539-2544 SO:0001685 denotes score
T316 2706-2724 SO:0001536 denotes functional variant
T318 2734-2740 SO:0001026 denotes genome
T319 2765-2769 PR:000023208 denotes meta
T320 2765-2769 PR:P07623 denotes meta
T321 2887-2894 D004194 denotes disease
T322 2887-2894 D004194 denotes disease
T324 2969-2972 CHEBI:16768 denotes Msh
T328 2969-2972 D009074 denotes Msh
T329 2969-2972 D009074 denotes Msh
T330 2969-2973 PR:O65607 denotes Msh3
T331 2969-2973 PR:000010667 denotes Msh3
T332 2969-2973 PR:Q59Y41 denotes Msh3
T333 2969-2973 PR:P25336 denotes Msh3
T334 2969-2973 PR:P20585 denotes Msh3
T335 2969-2973 PR:P26359 denotes Msh3
T336 2969-2973 PR:P13705 denotes Msh3
T337 2969-2973 PR:Q1ZXH0 denotes Msh3
T342 3003-3023 D006816 denotes Huntington's disease
T343 3003-3023 D006816 denotes Huntington's disease
T346 3024-3029 10090 denotes mouse
T347 3024-3029 D051379 denotes mouse
T348 3146-3149 PR:Q93VP2 denotes FP7
T349 3219-3228 UBERON:0000955 denotes the Brain

UseCases_ArguminSci_Discourse

Id Subject Object Predicate Lexical cue
T1 0-117 DRI_Background denotes Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.
T2 130-215 DRI_Approach denotes Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT.
T3 216-382 DRI_Background denotes Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available.
T4 383-527 DRI_Approach denotes Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure.
T5 537-821 DRI_Approach denotes We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008-11).
T6 822-1048 DRI_Approach denotes We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003-13).
T7 1049-1230 DRI_Outcome denotes We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken.
T8 1241-1437 DRI_Background denotes Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies.
T9 1438-1589 DRI_Approach denotes The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234).
T10 1590-1687 DRI_Outcome denotes The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (
T11 1687-1695 Token_Label.OUTSIDE denotes p=1·12 ×
T12 1696-1768 DRI_Outcome denotes 10(-10)) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2.
T13 1769-1839 DRI_Approach denotes The genes in this locus were associated with progression in TRACK-HD (
T14 1839-1872 Token_Label.OUTSIDE denotes MSH3 p=2·94 × 10(-8)DHFR p=8·37 ×
T15 1873-1878 DRI_Approach denotes 10(-7
T16 1880-1897 Token_Label.OUTSIDE denotes MTRNR2L2 p=2·15 ×
T17 1898-1942 DRI_Approach denotes 10(-9)) and to a lesser extent in REGISTRY (
T18 1942-1999 Token_Label.OUTSIDE denotes MSH3 p=9·36 × 10(-4)DHFR p=8·45 × 10(-4)MTRNR2L2 p=1·20 ×
T19 2000-2008 DRI_Approach denotes 10(-3)).
T20 2009-2131 DRI_Approach denotes The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (
T21 2131-2139 Token_Label.OUTSIDE denotes p=1·58 ×
T22 2140-2200 DRI_Approach denotes 10(-8)), and encodes an aminoacid change (Pro67Ala) in MSH3.
T23 2201-2545 DRI_Approach denotes In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16-0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06-0·18) in the rate of change of UHDRS Total Functional Capacity score.
T24 2546-2619 DRI_Background denotes These associations remained significant after adjusting for age of onset.
T25 2636-2779 DRI_Outcome denotes The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis.
T26 2780-2956 DRI_Outcome denotes The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both.
T27 2957-3112 DRI_Outcome denotes Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation.
T28 3122-3273 DRI_Unspecified denotes The European Commission FP7 NeurOmics project; CHDI Foundation; the Medical Research Council UK; the Brain Research Trust; and the Guarantors of Brain.