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PubmedHPO

Id Subject Object Predicate Lexical cue
T1 175-192 HP_0007754 denotes macular dystrophy

sonoma2

Id Subject Object Predicate Lexical cue
T0 4-14 GENE denotes bestrophin
T1 15-29 VAR denotes mutation A243V
T2 31-37 REG denotes linked
T3 38-40 REG denotes to
T4 41-82 DISEASE denotes adult-onset vitelliform macular dystrophy
T5 53-82 DISEASE denotes vitelliform macular dystrophy
T6 84-91 NEGREG denotes impairs
T7 96-121 MPA denotes chloride channel function
T8 158-192 DISEASE denotes Best vitelliform macular dystrophy
T9 162-191 DISEASE denotes vitelliform macular dystroph
T10 193-197 DISEASE denotes (BVM
T11 194-198 DISEASE denotes BVMD
T12 203-209 REG denotes caused
T13 213-224 NEGREG denotes dysfunction
T14 238-254 MPA denotes channel function
T15 263-275 GENE denotes bestrophin-
T16 264-276 GENE denotes bestrophin-1
T17 277-283 GENE denotes (hBest
T18 278-284 GENE denotes hBest1
T19 309-313 DISEASE denotes BVM
T20 310-314 DISEASE denotes BVMD
T21 327-333 GENE denotes hBest
T22 328-334 GENE denotes hBest1
T23 335-349 VAR denotes A243V mutation
T24 362-380 CPA denotes electro-oculograms
T25 403-411 VAR denotes mutation
T26 416-419 NEGREG denotes not
T27 420-426 REG denotes affect
T28 433-449 MPA denotes channel function
T29 506-520 VAR denotes A243V mutation
T30 521-528 REG denotes affects
T31 539-555 MPA denotes channel function
T32 558-564 GENE denotes hBest
T33 559-565 GENE denotes hBest1
T34 586-593 VAR denotes alanine
T35 625-631 VAR denotes valine
T36 669-671 VAR denotes WT
T37 677-682 VAR denotes A243V
T38 681-687 GENE denotes V hBes
T39 683-689 GENE denotes hBest1
T40 807-818 MPA denotes trafficking
T41 822-830 GENE denotes proteins
T42 905-907 VAR denotes WT
T43 905-911 GENE denotes WT hBe
T44 908-914 GENE denotes hBest1
T45 915-922 POSREG denotes induced
T46 923-954 MPA denotes Ca(2+)-activated Cl(-) currents
T47 1002-1010 MPA denotes currents
T48 1011-1019 REG denotes produced
T49 1027-1039 VAR denotes A243V mutant
T50 1081-1086 POSREG denotes large
T51 1107-1110 REG denotes due
T52 1118-1127 NEGREG denotes inability
T53 1135-1140 VAR denotes A243V
T54 1141-1147 VAR denotes mutant
T55 1203-1216 MPA denotes biotinylation
T56 1222-1236 VAR denotes A243V mutation
T57 1237-1244 REG denotes changed
T58 1245-1270 MPA denotes channel anion selectivity
T59 1279-1286 MPA denotes current
T60 1287-1296 REG denotes exhibited
T61 1308-1320 MPA denotes permeability
T62 1419-1430 MPA denotes conductance
T63 1528-1533 VAR denotes A243V
T64 1534-1541 MPA denotes current
T65 1542-1551 REG denotes exhibited
T66 1562-1571 MPA denotes sequences
T67 1745-1751 GENE denotes hBest1
T68 1752-1761 VAR denotes mutations
T69 1801-1819 MPA denotes wild-type channels
T70 1805-1811 GENE denotes -type
T71 1825-1839 VAR denotes A243V-mutation
T72 1862-1879 MPA denotes wild-type current
T73 1885-1890 VAR denotes A243V
T74 1898-1904 GENE denotes hBest1
T75 1949-1964 REG denotes disease-causing
T76 1957-1963 GENE denotes causin
T77 1965-1970 VAR denotes A243V
T78 1971-1979 VAR denotes mutation
T79 1983-1993 REG denotes associated
T80 1999-2006 REG denotes altered
T81 2007-2013 GENE denotes hBest1
T82 2020-2036 MPA denotes channel activity
T83 2042-2049 NEGREG denotes absence
T84 2064-2072 NEGREG denotes negative
T85 2066-2072 GENE denotes gative
T86 2083-2088 VAR denotes A243V
T87 2092-2102 REG denotes consistent
T88 2112-2116 POSREG denotes more
T89 2122-2130 CPA denotes symptoms
T90 2131-2141 REG denotes associated
T91 2152-2160 VAR denotes mutation
T92 2224-2235 GENE denotes bestrophins
R0 T0 T1 ThemeOf bestrophin,mutation A243V
R1 T1 T2 CauseOf mutation A243V,linked
R2 T1 T3 CauseOf mutation A243V,to
R3 T1 T6 CauseOf mutation A243V,impairs
R4 T4 T2 ThemeOf adult-onset vitelliform macular dystrophy,linked
R5 T4 T3 ThemeOf adult-onset vitelliform macular dystrophy,to
R6 T7 T6 ThemeOf chloride channel function,impairs
R7 T8 T12 ThemeOf Best vitelliform macular dystrophy,caused
R8 T8 T13 ThemeOf Best vitelliform macular dystrophy,dysfunction
R9 T11 T12 ThemeOf BVMD,caused
R10 T11 T13 ThemeOf BVMD,dysfunction
R11 T13 T12 CauseOf dysfunction,caused
R12 T20 T13 ThemeOf BVMD,dysfunction
R13 T14 T13 ThemeOf channel function,dysfunction
R14 T16 T13 ThemeOf bestrophin-1,dysfunction
R15 T16 T14 ThemeOf bestrophin-1,channel function
R16 T18 T13 ThemeOf hBest1,dysfunction
R17 T18 T14 ThemeOf hBest1,channel function
R18 T18 T23 ThemeOf hBest1,A243V mutation
R19 T20 T26 ThemeOf BVMD,not
R20 T22 T23 ThemeOf hBest1,A243V mutation
R21 T22 T25 ThemeOf hBest1,mutation
R22 T23 T13 CauseOf A243V mutation,dysfunction
R23 T23 T26 CauseOf A243V mutation,not
R24 T23 T27 CauseOf A243V mutation,affect
R25 T24 T26 ThemeOf electro-oculograms,not
R26 T25 T13 CauseOf mutation,dysfunction
R27 T25 T26 CauseOf mutation,not
R28 T25 T27 CauseOf mutation,affect
R29 T28 T27 ThemeOf channel function,affect
R30 T28 T26 ThemeOf channel function,not
R31 T29 T30 CauseOf A243V mutation,affects
R32 T31 T30 ThemeOf channel function,affects
R33 T33 T29 ThemeOf hBest1,A243V mutation
R34 T33 T30 ThemeOf hBest1,affects
R35 T33 T31 ThemeOf hBest1,channel function
R36 T39 T34 ThemeOf hBest1,alanine
R37 T39 T35 ThemeOf hBest1,valine
R38 T39 T36 ThemeOf hBest1,WT
R39 T39 T37 ThemeOf hBest1,A243V
R40 T41 T40 ThemeOf proteins,trafficking
R41 T42 T45 CauseOf WT,induced
R42 T44 T42 ThemeOf hBest1,WT
R43 T46 T45 ThemeOf Ca(2+)-activated Cl(-) currents,induced
R44 T47 T48 ThemeOf currents,produced
R45 T47 T50 ThemeOf currents,large
R46 T49 T45 CauseOf A243V mutant,induced
R47 T49 T48 CauseOf A243V mutant,produced
R48 T49 T50 CauseOf A243V mutant,large
R49 T53 T51 CauseOf A243V,due
R50 T53 T52 CauseOf A243V,inability
R51 T53 T54 ThemeOf A243V,mutant
R52 T54 T52 CauseOf mutant,inability
R53 T55 T52 ThemeOf biotinylation,inability
R54 T56 T57 CauseOf A243V mutation,changed
R55 T56 T60 CauseOf A243V mutation,exhibited
R56 T58 T57 ThemeOf channel anion selectivity,changed
R57 T58 T60 ThemeOf channel anion selectivity,exhibited
R58 T59 T60 ThemeOf current,exhibited
R59 T61 T60 ThemeOf permeability,exhibited
R60 T62 T60 ThemeOf conductance,exhibited
R61 T63 T65 CauseOf A243V,exhibited
R62 T63 T66 CauseOf A243V,sequences
R63 T64 T63 ThemeOf current,A243V
R64 T64 T65 ThemeOf current,exhibited
R65 T66 T65 ThemeOf sequences,exhibited
R66 T67 T68 ThemeOf hBest1,mutations
R67 T67 T71 ThemeOf hBest1,A243V-mutation
R68 T74 T68 ThemeOf hBest1,mutations
R69 T74 T71 ThemeOf hBest1,A243V-mutation
R70 T74 T73 ThemeOf hBest1,A243V
R71 T78 T75 CauseOf mutation,disease-causing
R72 T77 T75 CauseOf A243V,disease-causing
R73 T77 T79 CauseOf A243V,associated
R74 T77 T80 CauseOf A243V,altered
R75 T78 T79 CauseOf mutation,associated
R76 T78 T80 CauseOf mutation,altered
R77 T81 T80 ThemeOf hBest1,altered
R78 T81 T82 ThemeOf hBest1,channel activity
R79 T82 T79 ThemeOf channel activity,associated
R80 T82 T80 ThemeOf channel activity,altered
R81 T86 T83 CauseOf A243V,absence
R82 T86 T84 CauseOf A243V,negative
R83 T86 T87 CauseOf A243V,consistent
R84 T86 T88 CauseOf A243V,more
R85 T86 T89 CauseOf A243V,symptoms
R86 T86 T90 CauseOf A243V,associated
R87 T89 T87 ThemeOf symptoms,consistent
R88 T89 T88 ThemeOf symptoms,more
R89 T89 T90 ThemeOf symptoms,associated
R90 T91 T88 CauseOf mutation,more
R91 T91 T89 CauseOf mutation,symptoms
R92 T91 T90 CauseOf mutation,associated