PubMed:19338054
Annnotations
PubTator4TogoVar
Id | Subject | Object | Predicate | Lexical cue | proteinmutation |
---|---|---|---|---|---|
19338054_0 | 942-952 | ProteinMutation | denotes | p.Val51Ala | rs766080391 |
19338054_1 | 967-978 | ProteinMutation | denotes | p.Cys289Arg | rs369542041 |
19338054_2 | 1033-1043 | ProteinMutation | denotes | p.Val38Met | rs200050206 |
19338054_3 | 1077-1088 | ProteinMutation | denotes | p.Met128Thr | rs374235260 |
19338054_4 | 1104-1115 | ProteinMutation | denotes | p.Asn281Ser | rs141177570 |
19338054_5 | 1154-1165 | ProteinMutation | denotes | p.Asn281Ser | rs141177570 |
19338054_6 | 1357-1367 | ProteinMutation | denotes | p.Val38Met | rs200050206 |
19338054_7 | 1372-1382 | ProteinMutation | denotes | p.Val51Ala | rs766080391 |
19338054_8 | 1447-1458 | ProteinMutation | denotes | p.Met128Thr | rs374235260 |
19338054_9 | 1464-1475 | ProteinMutation | denotes | p.Cys289Arg | rs369542041 |
19338054_10 | 1486-1497 | ProteinMutation | denotes | p.Met128Thr | rs374235260 |
19338054_11 | 1502-1513 | ProteinMutation | denotes | p.Cys289Arg | rs369542041 |
19338054_12 | 1622-1632 | ProteinMutation | denotes | p.Val38Met | rs200050206 |
19338054_13 | 1650-1660 | ProteinMutation | denotes | p.Val51Ala | rs766080391 |
sonoma2
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T0 | 48-56 | VAR | denotes | variants |
T1 | 70-93 | GENE | denotes | melanocortin 1 receptor |
T2 | 94-99 | REG | denotes | found |
T3 | 103-111 | DISEASE | denotes | melanoma |
T4 | 126-149 | GENE | denotes | melanocortin 1 receptor |
T5 | 243-260 | DISEASE | denotes | skin pigmentation |
T6 | 307-315 | DISEASE | denotes | melanoma |
T7 | 322-326 | GENE | denotes | MC1R |
T8 | 349-367 | MPA | denotes | synthesis of black |
T9 | 378-412 | MPA | denotes | photoprotective eumelanin pigments |
T10 | 422-426 | GENE | denotes | MC1R |
T11 | 427-434 | VAR | denotes | alleles |
T12 | 439-449 | REG | denotes | associated |
T13 | 455-463 | CPA | denotes | red hair |
T14 | 455-463 | DISEASE | denotes | red hair |
T15 | 465-474 | CPA | denotes | fair skin |
T16 | 476-485 | POSREG | denotes | increased |
T17 | 486-497 | MPA | denotes | sensitivity |
T18 | 528-537 | POSREG | denotes | increased |
T19 | 538-549 | DISEASE | denotes | skin cancer |
T20 | 560-564 | GENE | denotes | MC1R |
T21 | 869-873 | GENE | denotes | MC1R |
T22 | 882-887 | REG | denotes | found |
T23 | 899-907 | DISEASE | denotes | melanoma |
T24 | 922-930 | VAR | denotes | variants |
T25 | 932-940 | VAR | denotes | c.152T>C |
T26 | 944-952 | VAR | denotes | Val51Ala |
T27 | 957-963 | VAR | denotes | c.865T |
T28 | 969-978 | VAR | denotes | Cys289Arg |
T29 | 1023-1029 | VAR | denotes | c.112G |
T30 | 1035-1043 | VAR | denotes | Val38Met |
T31 | 1045-1051 | VAR | denotes | c.122C |
T32 | 1057-1065 | VAR | denotes | Ser41Phe |
T33 | 1067-1073 | VAR | denotes | c.383T |
T34 | 1079-1088 | VAR | denotes | Met128Thr |
T35 | 1094-1100 | VAR | denotes | c.842A |
T36 | 1106-1115 | VAR | denotes | Asn281Ser |
T37 | 1156-1165 | VAR | denotes | Asn281Ser |
T38 | 1227-1236 | VAR | denotes | mutations |
T39 | 1241-1251 | REG | denotes | associated |
T40 | 1276-1280 | NEGREG | denotes | loss |
T41 | 1294-1297 | NEGREG | denotes | LOF |
T42 | 1314-1323 | NEGREG | denotes | decreases |
T43 | 1327-1335 | MPA | denotes | coupling |
T44 | 1343-1355 | MPA | denotes | cAMP pathway |
T45 | 1359-1367 | VAR | denotes | Val38Met |
T46 | 1374-1382 | VAR | denotes | Val51Ala |
T47 | 1403-1410 | NEGREG | denotes | absence |
T48 | 1414-1433 | MPA | denotes | functional coupling |
T49 | 1437-1445 | VAR | denotes | Ser41Phe |
T50 | 1449-1458 | VAR | denotes | Met128Thr |
T51 | 1466-1475 | VAR | denotes | Cys289Arg |
T52 | 1482-1485 | NEGREG | denotes | LOF |
T53 | 1488-1497 | VAR | denotes | Met128Thr |
T54 | 1504-1513 | VAR | denotes | Cys289Arg |
T55 | 1514-1521 | VAR | denotes | mutants |
T56 | 1566-1572 | NEGREG | denotes | unable |
T57 | 1624-1632 | VAR | denotes | Val38Met |
T58 | 1636-1644 | VAR | denotes | Ser41Phe |
T59 | 1652-1660 | VAR | denotes | Val51Ala |
T60 | 1671-1678 | NEGREG | denotes | reduced |
T61 | 1692-1702 | MPA | denotes | expression |
T62 | 1723-1732 | MPA | denotes | retention |
T63 | 1779-1782 | NEGREG | denotes | LOF |
T64 | 1786-1790 | GENE | denotes | MC1R |
T65 | 1791-1798 | VAR | denotes | alleles |
T66 | 1804-1808 | GENE | denotes | eque |
T67 | 1813-1823 | REG | denotes | associated |
T68 | 1846-1857 | MPA | denotes | trafficking |
T69 | 1897-1906 | NEGREG | denotes | inability |
R0 | T0 | T2 | CauseOf | variants,found |
R1 | T3 | T2 | ThemeOf | melanoma,found |
R2 | T10 | T11 | ThemeOf | MC1R,alleles |
R3 | T11 | T12 | CauseOf | alleles,associated |
R4 | T11 | T16 | CauseOf | alleles,increased |
R5 | T11 | T18 | CauseOf | alleles,increased |
R6 | T13 | T12 | ThemeOf | red hair,associated |
R7 | T15 | T12 | ThemeOf | fair skin,associated |
R8 | T17 | T16 | ThemeOf | sensitivity,increased |
R9 | T19 | T16 | ThemeOf | skin cancer,increased |
R10 | T19 | T18 | ThemeOf | skin cancer,increased |
R11 | T21 | T24 | ThemeOf | MC1R,variants |
R12 | T21 | T27 | ThemeOf | MC1R,c.865T |
R13 | T23 | T22 | ThemeOf | melanoma,found |
R14 | T26 | T24 | ThemeOf | Val51Ala,variants |
R15 | T29 | T40 | CauseOf | c.112G,loss |
R16 | T31 | T40 | CauseOf | c.122C,loss |
R17 | T33 | T40 | CauseOf | c.383T,loss |
R18 | T35 | T40 | CauseOf | c.842A,loss |
R19 | T38 | T39 | CauseOf | mutations,associated |
R20 | T38 | T40 | CauseOf | mutations,loss |
R21 | T38 | T41 | CauseOf | mutations,LOF |
R22 | T38 | T42 | CauseOf | mutations,decreases |
R23 | T38 | T47 | CauseOf | mutations,absence |
R24 | T43 | T42 | ThemeOf | coupling,decreases |
R25 | T44 | T43 | ThemeOf | cAMP pathway,coupling |
R26 | T44 | T42 | ThemeOf | cAMP pathway,decreases |
R27 | T45 | T39 | CauseOf | Val38Met,associated |
R28 | T45 | T40 | CauseOf | Val38Met,loss |
R29 | T45 | T41 | CauseOf | Val38Met,LOF |
R30 | T45 | T42 | CauseOf | Val38Met,decreases |
R31 | T45 | T47 | CauseOf | Val38Met,absence |
R32 | T46 | T39 | CauseOf | Val51Ala,associated |
R33 | T46 | T40 | CauseOf | Val51Ala,loss |
R34 | T46 | T41 | CauseOf | Val51Ala,LOF |
R35 | T46 | T42 | CauseOf | Val51Ala,decreases |
R36 | T46 | T47 | CauseOf | Val51Ala,absence |
R37 | T48 | T47 | ThemeOf | functional coupling,absence |
R38 | T49 | T40 | CauseOf | Ser41Phe,loss |
R39 | T49 | T42 | CauseOf | Ser41Phe,decreases |
R40 | T49 | T47 | CauseOf | Ser41Phe,absence |
R41 | T50 | T40 | CauseOf | Met128Thr,loss |
R42 | T50 | T42 | CauseOf | Met128Thr,decreases |
R43 | T50 | T47 | CauseOf | Met128Thr,absence |
R44 | T51 | T40 | CauseOf | Cys289Arg,loss |
R45 | T51 | T42 | CauseOf | Cys289Arg,decreases |
R46 | T51 | T47 | CauseOf | Cys289Arg,absence |
R47 | T53 | T52 | CauseOf | Met128Thr,LOF |
R48 | T53 | T56 | CauseOf | Met128Thr,unable |
R49 | T54 | T52 | CauseOf | Cys289Arg,LOF |
R50 | T54 | T56 | CauseOf | Cys289Arg,unable |
R51 | T55 | T52 | CauseOf | mutants,LOF |
R52 | T55 | T56 | CauseOf | mutants,unable |
R53 | T57 | T60 | CauseOf | Val38Met,reduced |
R54 | T58 | T60 | CauseOf | Ser41Phe,reduced |
R55 | T59 | T60 | CauseOf | Val51Ala,reduced |
R56 | T61 | T60 | ThemeOf | expression,reduced |
R57 | T64 | T65 | ThemeOf | MC1R,alleles |
R58 | T65 | T63 | CauseOf | alleles,LOF |
R59 | T65 | T67 | CauseOf | alleles,associated |
R60 | T65 | T69 | CauseOf | alleles,inability |
R61 | T68 | T67 | ThemeOf | trafficking,associated |
DisGeNET
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T0 | 422-426 | gene:4157 | denotes | MC1R |
T1 | 538-549 | disease:C0007114 | denotes | skin cancer |
R1 | T0 | T1 | associated_with | MC1R,skin cancer |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
19338054-1#31#58#gene680 | 153-180 | gene680 | denotes | Gs protein-coupled receptor |
19338054-0#70#93#gene4157 | 70-93 | gene4157 | denotes | melanocortin 1 receptor |
19338054-0#103#111#diseaseC0025202 | 103-111 | diseaseC0025202 | denotes | melanoma |
19338054-1#31#58#gene57007 | 153-180 | gene57007 | denotes | Gs protein-coupled receptor |
19338054-1#31#58#gene148 | 153-180 | gene148 | denotes | Gs protein-coupled receptor |
19338054-1#31#58#gene151 | 153-180 | gene151 | denotes | Gs protein-coupled receptor |
19338054-1#31#58#gene10663 | 153-180 | gene10663 | denotes | Gs protein-coupled receptor |
19338054-1#31#58#gene1909 | 153-180 | gene1909 | denotes | Gs protein-coupled receptor |
19338054-1#31#58#gene2866 | 153-180 | gene2866 | denotes | Gs protein-coupled receptor |
19338054-1#31#58#gene9170 | 153-180 | gene9170 | denotes | Gs protein-coupled receptor |
19338054-1#31#58#gene6754 | 153-180 | gene6754 | denotes | Gs protein-coupled receptor |
19338054-1#185#193#diseaseC0025202 | 307-315 | diseaseC0025202 | denotes | melanoma |
19338054-3#8#12#gene4157 | 422-426 | gene4157 | denotes | MC1R |
19338054-3#124#135#diseaseC0007114 | 538-549 | diseaseC0007114 | denotes | skin cancer |
70#93#gene4157103#111#diseaseC0025202 | 19338054-0#70#93#gene4157 | 19338054-0#103#111#diseaseC0025202 | associated_with | melanocortin 1 receptor,melanoma |
31#58#gene57007185#193#diseaseC0025202 | 19338054-1#31#58#gene57007 | 19338054-1#185#193#diseaseC0025202 | associated_with | Gs protein-coupled receptor,melanoma |
31#58#gene148185#193#diseaseC0025202 | 19338054-1#31#58#gene148 | 19338054-1#185#193#diseaseC0025202 | associated_with | Gs protein-coupled receptor,melanoma |
31#58#gene151185#193#diseaseC0025202 | 19338054-1#31#58#gene151 | 19338054-1#185#193#diseaseC0025202 | associated_with | Gs protein-coupled receptor,melanoma |
31#58#gene680185#193#diseaseC0025202 | 19338054-1#31#58#gene680 | 19338054-1#185#193#diseaseC0025202 | associated_with | Gs protein-coupled receptor,melanoma |
31#58#gene10663185#193#diseaseC0025202 | 19338054-1#31#58#gene10663 | 19338054-1#185#193#diseaseC0025202 | associated_with | Gs protein-coupled receptor,melanoma |
31#58#gene1909185#193#diseaseC0025202 | 19338054-1#31#58#gene1909 | 19338054-1#185#193#diseaseC0025202 | associated_with | Gs protein-coupled receptor,melanoma |
31#58#gene2866185#193#diseaseC0025202 | 19338054-1#31#58#gene2866 | 19338054-1#185#193#diseaseC0025202 | associated_with | Gs protein-coupled receptor,melanoma |
31#58#gene9170185#193#diseaseC0025202 | 19338054-1#31#58#gene9170 | 19338054-1#185#193#diseaseC0025202 | associated_with | Gs protein-coupled receptor,melanoma |
31#58#gene6754185#193#diseaseC0025202 | 19338054-1#31#58#gene6754 | 19338054-1#185#193#diseaseC0025202 | associated_with | Gs protein-coupled receptor,melanoma |
8#12#gene4157124#135#diseaseC0007114 | 19338054-3#8#12#gene4157 | 19338054-3#124#135#diseaseC0007114 | associated_with | MC1R,skin cancer |
kaiyin_test
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T35 | 899-907 | Disease | denotes | melanoma |
T13 | 1154-1165 | Var | denotes | p.Asn281Ser |
T11 | 1196-1202 | NegReg | denotes | silent |
T12 | 1203-1215 | MPA | denotes | polymorphism |
T19 | 1314-1323 | NegReg | denotes | decreases |
T18 | 1327-1335 | MPA | denotes | coupling |
T20 | 1343-1355 | Pathway | denotes | cAMP pathway |
T26 | 1357-1367 | Var | denotes | p.Val38Met |
T27 | 1372-1382 | Var | denotes | p.Val51Ala |
T22 | 1403-1410 | NegReg | denotes | absence |
T21 | 1414-1433 | MPA | denotes | functional coupling |
T28 | 1435-1445 | Var | denotes | p.Ser41Phe |
T29 | 1447-1458 | Var | denotes | p.Met128Thr |
T30 | 1464-1475 | Var | denotes | p.Cys289Arg |
T32 | 1486-1497 | Var | denotes | p.Met128Thr |
T31 | 1502-1513 | Var | denotes | p.Cys289Arg |
T33 | 1566-1572 | NegReg | denotes | unable |
T34 | 1576-1580 | Interaction | denotes | bind |
T23 | 1622-1660 | Var | denotes | p.Val38Met, p.Ser41Phe, and p.Val51Ala |
T24 | 1671-1678 | NegReg | denotes | reduced |
T25 | 1679-1702 | CPA | denotes | cell surface expression |
R10 | T12 | T11 | ThemeOf | polymorphism,silent |
R14 | T23 | T24 | CauseOf | "p.Val38Met, p.Ser41Phe, and p.Val51Ala",reduced |
R15 | T25 | T24 | ThemeOf | cell surface expression,reduced |
R17 | T18 | T19 | ThemeOf | coupling,decreases |
R20 | T21 | T22 | ThemeOf | functional coupling,absence |
R21 | T20 | T19 | ThemeOf | cAMP pathway,decreases |
R22 | T26 | T19 | CauseOf | p.Val38Met,decreases |
R23 | T27 | T19 | CauseOf | p.Val51Ala,decreases |
R24 | T28 | T22 | CauseOf | p.Ser41Phe,absence |
R25 | T29 | T22 | CauseOf | p.Met128Thr,absence |
R26 | T30 | T22 | CauseOf | p.Cys289Arg,absence |
R27 | T31 | T33 | CauseOf | p.Cys289Arg,unable |
R28 | T32 | T33 | CauseOf | p.Met128Thr,unable |
R29 | T34 | T33 | ThemeOf | bind,unable |
R9 | T13 | T11 | CauseOf | p.Asn281Ser,silent |
name_no
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T35 | 899-907 | Disease | denotes | melanoma |
T13 | 1154-1165 | Var | denotes | p.Asn281Ser |
T11 | 1196-1202 | NegReg | denotes | silent |
T12 | 1203-1215 | MPA | denotes | polymorphism |
T19 | 1314-1323 | NegReg | denotes | decreases |
T18 | 1327-1335 | MPA | denotes | coupling |
T20 | 1343-1355 | Pathway | denotes | cAMP pathway |
T26 | 1357-1367 | Var | denotes | p.Val38Met |
T27 | 1372-1382 | Var | denotes | p.Val51Ala |
T22 | 1403-1410 | NegReg | denotes | absence |
T21 | 1414-1433 | MPA | denotes | functional coupling |
T28 | 1435-1445 | Var | denotes | p.Ser41Phe |
T29 | 1447-1458 | Var | denotes | p.Met128Thr |
T30 | 1464-1475 | Var | denotes | p.Cys289Arg |
T32 | 1486-1497 | Var | denotes | p.Met128Thr |
T31 | 1502-1513 | Var | denotes | p.Cys289Arg |
T33 | 1566-1572 | NegReg | denotes | unable |
T34 | 1576-1580 | Interaction | denotes | bind |
T23 | 1622-1660 | Var | denotes | p.Val38Met, p.Ser41Phe, and p.Val51Ala |
T24 | 1671-1678 | NegReg | denotes | reduced |
T25 | 1679-1702 | CPA | denotes | cell surface expression |
R10 | T12 | T11 | ThemeOf | polymorphism,silent |
R14 | T23 | T24 | CauseOf | "p.Val38Met, p.Ser41Phe, and p.Val51Ala",reduced |
R15 | T25 | T24 | ThemeOf | cell surface expression,reduced |
R17 | T18 | T19 | ThemeOf | coupling,decreases |
R20 | T21 | T22 | ThemeOf | functional coupling,absence |
R21 | T20 | T19 | ThemeOf | cAMP pathway,decreases |
R22 | T26 | T19 | CauseOf | p.Val38Met,decreases |
R23 | T27 | T19 | CauseOf | p.Val51Ala,decreases |
R24 | T28 | T22 | CauseOf | p.Ser41Phe,absence |
R25 | T29 | T22 | CauseOf | p.Met128Thr,absence |
R26 | T30 | T22 | CauseOf | p.Cys289Arg,absence |
R27 | T31 | T33 | CauseOf | p.Cys289Arg,unable |
R28 | T32 | T33 | CauseOf | p.Met128Thr,unable |
R29 | T34 | T33 | ThemeOf | bind,unable |
R9 | T13 | T11 | CauseOf | p.Asn281Ser,silent |