PubMed:28642124
Annnotations
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. |
PubTator4TogoVar
| Id | Subject | Object | Predicate | Lexical cue | resolved_to |
|---|---|---|---|---|---|
| 37 | 2068-2079 | SNP | denotes | rs557874766 | tmVar:rs557874766;VariantGroup:0;CorrespondingGene:1719;RS#:557874766;CorrespondingSpecies:9606 |
PubTatorOnTogoVar
| Id | Subject | Object | Predicate | Lexical cue | resolved_to |
|---|---|---|---|---|---|
| 37 | 2068-2079 | SNP | denotes | rs557874766 | tmVar:rs557874766;VariantGroup:0;CorrespondingGene:1719;RS#:557874766;CorrespondingSpecies:9606 |
| T1 | 2068-2079 | SNP | denotes | rs557874766 | tmVar:rs557874766;VariantGroup:0;CorrespondingGene:1719;RS#:557874766;CorrespondingSpecies:9606 |
| T2 | 2068-2079 | SNP | denotes | rs557874766 | tmVar:rs557874766;VariantGroup:0;CorrespondingGene:1719;RS#:557874766;CorrespondingSpecies:9606 |