PubMed:1903591
Annnotations
PMID_GLOBAL
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 61-84 | DiseaseOrPhenotypicFeature | denotes | oculocutaneous albinism | 0018910 |
| T2 | 203-226 | DiseaseOrPhenotypicFeature | denotes | oculocutaneous albinism | 0018910 |
| T3 | 228-231 | DiseaseOrPhenotypicFeature | denotes | OCA | 0018910 |
| T4 | 273-276 | DiseaseOrPhenotypicFeature | denotes | OCA | 0018910 |
| T5 | 321-324 | DiseaseOrPhenotypicFeature | denotes | OCA | 0018910 |
| T6 | 362-365 | DiseaseOrPhenotypicFeature | denotes | OCA | 0018910 |
| T7 | 466-469 | DiseaseOrPhenotypicFeature | denotes | OCA | 0018910 |
| T8 | 521-524 | DiseaseOrPhenotypicFeature | denotes | OCA | 0018910 |
| T9 | 635-638 | DiseaseOrPhenotypicFeature | denotes | OCA | 0018910 |
| T10 | 747-750 | DiseaseOrPhenotypicFeature | denotes | OCA | 0018910 |
| T11 | 788-791 | DiseaseOrPhenotypicFeature | denotes | OCA | 0018910 |
| T12 | 854-857 | DiseaseOrPhenotypicFeature | denotes | OCA | 0018910 |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 0-10 | gene:7299 | denotes | Tyrosinase |
| T1 | 61-84 | disease:C0078918 | denotes | oculocutaneous albinism |
| T2 | 121-131 | gene:7299 | denotes | tyrosinase |
| T3 | 273-276 | disease:C0078918 | denotes | OCA |
| T4 | 121-131 | gene:7299 | denotes | tyrosinase |
| T5 | 203-226 | disease:C0078918 | denotes | oculocutaneous albinism |
| T6 | 121-131 | gene:7299 | denotes | tyrosinase |
| T7 | 228-231 | disease:C0078918 | denotes | OCA |
| T8 | 300-310 | gene:7299 | denotes | tyrosinase |
| T9 | 321-324 | disease:C0078918 | denotes | OCA |
| T10 | 300-310 | gene:7299 | denotes | tyrosinase |
| T11 | 273-276 | disease:C0078918 | denotes | OCA |
| T12 | 300-310 | gene:7299 | denotes | tyrosinase |
| T13 | 203-226 | disease:C0078918 | denotes | oculocutaneous albinism |
| T14 | 300-310 | gene:7299 | denotes | tyrosinase |
| T15 | 228-231 | disease:C0078918 | denotes | OCA |
| T16 | 121-131 | gene:7299 | denotes | tyrosinase |
| T17 | 321-324 | disease:C0078918 | denotes | OCA |
| T18 | 1074-1084 | gene:7299 | denotes | tyrosinase |
| T19 | 854-857 | disease:C0078918 | denotes | OCA |
| R1 | T0 | T1 | associated_with | Tyrosinase,oculocutaneous albinism |
| R2 | T2 | T3 | associated_with | tyrosinase,OCA |
| R3 | T4 | T5 | associated_with | tyrosinase,oculocutaneous albinism |
| R4 | T6 | T7 | associated_with | tyrosinase,OCA |
| R5 | T8 | T9 | associated_with | tyrosinase,OCA |
| R6 | T10 | T11 | associated_with | tyrosinase,OCA |
| R7 | T12 | T13 | associated_with | tyrosinase,oculocutaneous albinism |
| R8 | T14 | T15 | associated_with | tyrosinase,OCA |
| R9 | T16 | T17 | associated_with | tyrosinase,OCA |
| R10 | T18 | T19 | associated_with | tyrosinase,OCA |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1903591-3#103#116#geners28940876 | 539-552 | geners28940876 | denotes | 81 Pro----Leu |
| 1903591-3#30#33#diseaseC0268500 | 466-469 | diseaseC0268500 | denotes | OCA |
| 1903591-3#85#88#diseaseC0268500 | 521-524 | diseaseC0268500 | denotes | OCA |
| 1903591-4#106#120#geners104894314 | 711-725 | geners104894314 | denotes | 275 Val----Phe |
| 1903591-4#30#33#diseaseC0268500 | 635-638 | diseaseC0268500 | denotes | OCA |
| 1903591-4#142#145#diseaseC0268500 | 747-750 | diseaseC0268500 | denotes | OCA |
| 103#116#geners2894087630#33#diseaseC0268500 | 1903591-3#103#116#geners28940876 | 1903591-3#30#33#diseaseC0268500 | associated_with | 81 Pro----Leu,OCA |
| 103#116#geners2894087685#88#diseaseC0268500 | 1903591-3#103#116#geners28940876 | 1903591-3#85#88#diseaseC0268500 | associated_with | 81 Pro----Leu,OCA |
| 106#120#geners10489431430#33#diseaseC0268500 | 1903591-4#106#120#geners104894314 | 1903591-4#30#33#diseaseC0268500 | associated_with | 275 Val----Phe,OCA |
| 106#120#geners104894314142#145#diseaseC0268500 | 1903591-4#106#120#geners104894314 | 1903591-4#142#145#diseaseC0268500 | associated_with | 275 Val----Phe,OCA |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1903591-0#0#10#gene7299 | 0-10 | gene7299 | denotes | Tyrosinase |
| 1903591-0#52#84#diseaseC0268500 | 51-82 | diseaseC0268500 | denotes | "yellow") oculocutaneous albini |
| 0#10#gene729952#84#diseaseC0268500 | 1903591-0#0#10#gene7299 | 1903591-0#52#84#diseaseC0268500 | associated_with | Tyrosinase,"""yellow"") oculocutaneous albini" |