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PubMed:11590544
Annnotations
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 |