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PubMed:11590544 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
11590544_0 1363-1368 ProteinMutation denotes R396W rs755120094

PMID_GLOBAL

Id Subject Object Predicate Lexical cue mondo_id
T1 0-32 DiseaseOrPhenotypicFeature denotes Hermansky-Pudlak syndrome type 3 0013555
T2 92-108 DiseaseOrPhenotypicFeature denotes hypopigmentation 0007459
T3 113-145 DiseaseOrPhenotypicFeature denotes platelet storage-pool deficiency 0008495
T4 147-172 DiseaseOrPhenotypicFeature denotes Hermansky-Pudlak syndrome 0019312|0030903
T6 174-177 DiseaseOrPhenotypicFeature denotes HPS 0019312
T7 194-217 DiseaseOrPhenotypicFeature denotes oculocutaneous albinism 0018910
T8 224-242 DiseaseOrPhenotypicFeature denotes bleeding diathesis 0002243
T9 330-334 DiseaseOrPhenotypicFeature denotes HPS1 0008748
T10 351-354 DiseaseOrPhenotypicFeature denotes HPS 0019312
T11 393-396 DiseaseOrPhenotypicFeature denotes HPS 0019312
T12 484-487 DiseaseOrPhenotypicFeature denotes HPS 0019312
T13 502-506 DiseaseOrPhenotypicFeature denotes HPS3 0013555
T14 593-596 DiseaseOrPhenotypicFeature denotes HPS 0019312
T15 703-706 DiseaseOrPhenotypicFeature denotes HPS 0019312
T16 1548-1552 DiseaseOrPhenotypicFeature denotes HPS3 0013555
T17 1777-1780 DiseaseOrPhenotypicFeature denotes HPS 0019312
T18 1852-1876 DiseaseOrPhenotypicFeature denotes oculocutaneous, albinism 0018910
T19 1927-1930 DiseaseOrPhenotypicFeature denotes HPS 0019312
T20 2035-2051 DiseaseOrPhenotypicFeature denotes hypopigmentation 0007459
T21 2096-2099 DiseaseOrPhenotypicFeature denotes HPS 0019312

FSU-PRGE

Id Subject Object Predicate Lexical cue
T1 330-334 protein denotes HPS1
T2 502-506 protein denotes HPS3
T3 885-889 protein denotes RsaI
T4 1548-1552 protein denotes HPS3

PIR-corpus2

Id Subject Object Predicate Lexical cue
T1 330-334 protein denotes HPS1
T2 370-376 protein denotes ADTB3A
T3 502-506 protein denotes HPS3
T4 1537-1552 protein denotes fibroblast HPS3

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
11590544-2#0#4#gene3257 330-334 gene3257 denotes HPS1
11590544-2#40#46#gene8546 370-376 gene8546 denotes ADTB3A
11590544-2#21#26#diseaseC2931875 351-356 diseaseC2931875 denotes HPS-1
11590544-2#63#68#diseaseC1842362 393-398 diseaseC1842362 denotes HPS-2
11590544-3#26#30#gene84343 502-506 gene84343 denotes HPS3
11590544-3#117#120#diseaseC0242994 593-596 diseaseC0242994 denotes HPS
0#4#gene325721#26#diseaseC2931875 11590544-2#0#4#gene3257 11590544-2#21#26#diseaseC2931875 associated_with HPS1,HPS-1
0#4#gene325763#68#diseaseC1842362 11590544-2#0#4#gene3257 11590544-2#63#68#diseaseC1842362 associated_with HPS1,HPS-2
40#46#gene854621#26#diseaseC2931875 11590544-2#40#46#gene8546 11590544-2#21#26#diseaseC2931875 associated_with ADTB3A,HPS-1
40#46#gene854663#68#diseaseC1842362 11590544-2#40#46#gene8546 11590544-2#63#68#diseaseC1842362 associated_with ADTB3A,HPS-2
26#30#gene84343117#120#diseaseC0242994 11590544-3#26#30#gene84343 11590544-3#117#120#diseaseC0242994 associated_with HPS3,HPS

DisGeNET

Id Subject Object Predicate Lexical cue
T0 330-334 gene:3257 denotes HPS1
T1 351-354 disease:C0242994 denotes HPS
T2 370-376 gene:8546 denotes ADTB3A
T3 393-396 disease:C0242994 denotes HPS
T4 502-506 gene:84343 denotes HPS3
T5 593-596 disease:C0242994 denotes HPS
R1 T0 T1 associated_with HPS1,HPS
R2 T2 T3 associated_with ADTB3A,HPS
R3 T4 T5 associated_with HPS3,HPS