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LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
1295 69-77 SequenceVariant denotes Asn45Ser DBSNP:rs5030764
1296 103-118 GeneOrGeneProduct denotes glycoprotein IX NCBIGene:2815
1297 129-136 OrganismTaxon denotes patient NCBITaxon:9606
1298 142-166 DiseaseOrPhenotypicFeature denotes Bernard-Soulier syndrome MESH:D001606
1299 168-192 DiseaseOrPhenotypicFeature denotes Bernard-Soulier syndrome MESH:D001606
1300 194-197 DiseaseOrPhenotypicFeature denotes BSS MESH:D001606
1301 209-236 DiseaseOrPhenotypicFeature denotes inherited bleeding disorder MESH:D025861
1302 302-327 GeneOrGeneProduct denotes glycoprotein (GP) Ib/IX/V NCBIGene:2811|NCBIGene:2814|NCBIGene:2815
1303 347-368 GeneOrGeneProduct denotes von Willebrand factor NCBIGene:7450
1304 524-527 GeneOrGeneProduct denotes GPV NCBIGene:2814
1305 543-546 DiseaseOrPhenotypicFeature denotes BSS MESH:D001606
1306 615-618 DiseaseOrPhenotypicFeature denotes BSS MESH:D001606
1307 652-659 OrganismTaxon denotes patient NCBITaxon:9606
1308 730-743 GeneOrGeneProduct denotes glycoproteins NCBIGene:2811|NCBIGene:2814|NCBIGene:2815
1309 751-760 GeneOrGeneProduct denotes GPIb/IX/V NCBIGene:2814|NCBIGene:2815|NCBIGene:2811
1310 805-812 OrganismTaxon denotes patient NCBITaxon:9606
1311 868-872 GeneOrGeneProduct denotes GPIX NCBIGene:2815
1312 887-937 SequenceVariant denotes nine-nucleotide deletion starting at position 1952 c|DEL|1952|9
1313 955-1065 SequenceVariant denotes changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline) p|SUB|NRTP|86_89|A
1314 1130-1177 SequenceVariant denotes asparagine (AAC) for serine (AGC) at residue 45 DBSNP:rs5030764
1315 1215-1223 SequenceVariant denotes Asn45Ser DBSNP:rs5030764
1316 1356-1360 GeneOrGeneProduct denotes GPIX NCBIGene:2815
1317 1390-1393 DiseaseOrPhenotypicFeature denotes BSS MESH:D001606
1318 1411-1418 OrganismTaxon denotes patient NCBITaxon:9606

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 524-527 OrganismTaxon denotes GPV NCBItxid:38251
T2 873-880 OrganismTaxon denotes gene, a NCBItxid:695940|NCBItxid:137249
T4 1124-1129 OrganismTaxon denotes codon NCBItxid:79338

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-167 Sentence denotes Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome.
T2 168-378 Sentence denotes Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor.
T3 379-448 Sentence denotes The complex comprises four subunits, each encoded by a separate gene.
T4 449-547 Sentence denotes Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS.
T5 548-619 Sentence denotes We describe here the genetic basis of the disorder in a child with BSS.
T6 620-769 Sentence denotes Flow-cytometric analysis of the patient's platelets showed a markedly reduced surface expression of all three glycoproteins of the GPIb/IX/V complex.
T7 770-1178 Sentence denotes DNA sequencing analysis showed the patient to be a compound heterozygote for two mutations in the GPIX gene, a novel nine-nucleotide deletion starting at position 1952 of the gene that changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline) and a previously reported point mutation that changes the codon asparagine (AAC) for serine (AGC) at residue 45.
T8 1179-1283 Sentence denotes Her mother was heterozygous for the Asn45Ser mutation, and her father, for the nine-nucleotide deletion.
T9 1284-1419 Sentence denotes Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient.

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 142-166 DiseaseOrPhenotypicFeature denotes Bernard-Soulier syndrome 0009276
T2 168-192 DiseaseOrPhenotypicFeature denotes Bernard-Soulier syndrome 0009276
T3 204-208 DiseaseOrPhenotypicFeature denotes rare 0021136
T4 209-218 DiseaseOrPhenotypicFeature denotes inherited 0021152

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 69-77 SequenceVariant denotes Asn45Ser
T2 1215-1223 SequenceVariant denotes Asn45Ser

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T7 158-166 GeneOrGeneProduct denotes syndrome
T1 30-35 GeneOrGeneProduct denotes novel
T2 36-40 GeneOrGeneProduct denotes nine
T3 78-86 GeneOrGeneProduct denotes missense
T4 87-95 GeneOrGeneProduct denotes mutation
T5 103-118 GeneOrGeneProduct denotes glycoprotein IX
T6 119-128 GeneOrGeneProduct denotes gene in a
T8 184-192 GeneOrGeneProduct denotes syndrome
T9 204-208 GeneOrGeneProduct denotes rare
T10 293-314 GeneOrGeneProduct denotes platelet glycoprotein
T11 315-322 GeneOrGeneProduct denotes (GP) Ib
T12 316-318 GeneOrGeneProduct denotes GP
T13 341-346 GeneOrGeneProduct denotes major
T14 347-368 GeneOrGeneProduct denotes von Willebrand factor
T15 369-377 GeneOrGeneProduct denotes receptor
T16 434-442 GeneOrGeneProduct denotes separate
T17 457-466 GeneOrGeneProduct denotes mutations
T18 577-582 GeneOrGeneProduct denotes basis
T19 599-603 GeneOrGeneProduct denotes in a
T20 681-689 GeneOrGeneProduct denotes markedly
T21 690-697 GeneOrGeneProduct denotes reduced
T22 698-705 GeneOrGeneProduct denotes surface
T23 720-723 GeneOrGeneProduct denotes all
T24 730-743 GeneOrGeneProduct denotes glycoproteins
T25 751-755 GeneOrGeneProduct denotes GPIb
T26 851-860 GeneOrGeneProduct denotes mutations
T27 868-872 GeneOrGeneProduct denotes GPIX
T28 873-880 GeneOrGeneProduct denotes gene, a
T29 881-886 GeneOrGeneProduct denotes novel
T30 887-891 GeneOrGeneProduct denotes nine
T31 912-920 GeneOrGeneProduct denotes starting
T32 981-988 GeneOrGeneProduct denotes alanine
T33 1004-1015 GeneOrGeneProduct denotes amino acids
T34 1092-1097 GeneOrGeneProduct denotes point
T35 1098-1111 GeneOrGeneProduct denotes mutation that
T36 1142-1145 GeneOrGeneProduct denotes AAC
T37 1179-1182 GeneOrGeneProduct denotes Her
T38 1224-1232 GeneOrGeneProduct denotes mutation
T39 1258-1262 GeneOrGeneProduct denotes nine
T40 1288-1296 GeneOrGeneProduct denotes findings
T41 1339-1348 GeneOrGeneProduct denotes mutations
T42 1356-1360 GeneOrGeneProduct denotes GPIX

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 30-35 GeneOrGeneProduct denotes novel
T2 103-118 GeneOrGeneProduct denotes glycoprotein IX
T3 158-166 GeneOrGeneProduct denotes syndrome
T4 184-192 GeneOrGeneProduct denotes syndrome
T5 204-208 GeneOrGeneProduct denotes rare
T6 293-314 GeneOrGeneProduct denotes platelet glycoprotein
T7 316-318 GeneOrGeneProduct denotes GP
T8 341-346 GeneOrGeneProduct denotes major
T9 347-368 GeneOrGeneProduct denotes von Willebrand factor
T10 369-377 GeneOrGeneProduct denotes receptor
T11 690-697 GeneOrGeneProduct denotes reduced
T12 698-705 GeneOrGeneProduct denotes surface
T13 730-743 GeneOrGeneProduct denotes glycoproteins
T14 868-872 GeneOrGeneProduct denotes GPIX
T15 873-880 GeneOrGeneProduct denotes gene, a
T16 881-886 GeneOrGeneProduct denotes novel
T17 981-988 GeneOrGeneProduct denotes alanine
T18 1004-1015 GeneOrGeneProduct denotes amino acids
T19 1356-1360 GeneOrGeneProduct denotes GPIX

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 142-166 DiseaseOrPhenotypicFeature denotes Bernard-Soulier syndrome D001606
T2 168-192 DiseaseOrPhenotypicFeature denotes Bernard-Soulier syndrome D001606
T3 194-197 DiseaseOrPhenotypicFeature denotes BSS D001606
T4 219-227 DiseaseOrPhenotypicFeature denotes bleeding D006470
T5 543-546 DiseaseOrPhenotypicFeature denotes BSS D001606
T6 615-618 DiseaseOrPhenotypicFeature denotes BSS D001606
T7 1390-1393 DiseaseOrPhenotypicFeature denotes BSS D001606

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 103-118 GeneOrGeneProduct denotes glycoprotein IX
T2 293-314 GeneOrGeneProduct denotes platelet glycoprotein
T3 316-318 GeneOrGeneProduct denotes GP
T4 347-368 GeneOrGeneProduct denotes von Willebrand factor
T5 730-743 GeneOrGeneProduct denotes glycoproteins
T6 868-872 GeneOrGeneProduct denotes GPIX
T7 1356-1360 GeneOrGeneProduct denotes GPIX

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 142-166 DiseaseOrPhenotypicFeature denotes Bernard-Soulier syndrome 0009276
T2 168-192 DiseaseOrPhenotypicFeature denotes Bernard-Soulier syndrome 0009276
T3 194-197 DiseaseOrPhenotypicFeature denotes BSS 0009276
T4 219-236 DiseaseOrPhenotypicFeature denotes bleeding disorder 0002243
T5 543-546 DiseaseOrPhenotypicFeature denotes BSS 0009276
T6 604-609 DiseaseOrPhenotypicFeature denotes child 0017015
T7 615-618 DiseaseOrPhenotypicFeature denotes BSS 0009276
T8 1390-1393 DiseaseOrPhenotypicFeature denotes BSS 0009276

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 142-166 DiseaseOrPhenotypicFeature denotes Bernard-Soulier syndrome D001606
T2 168-192 DiseaseOrPhenotypicFeature denotes Bernard-Soulier syndrome D001606
T3 194-197 DiseaseOrPhenotypicFeature denotes BSS D001606
T4 219-227 DiseaseOrPhenotypicFeature denotes bleeding D006470
T5 543-546 DiseaseOrPhenotypicFeature denotes BSS D001606
T6 615-618 DiseaseOrPhenotypicFeature denotes BSS D001606
T7 1390-1393 DiseaseOrPhenotypicFeature denotes BSS D001606

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 142-166 DiseaseOrPhenotypicFeature denotes Bernard-Soulier syndrome D001606
T2 168-192 DiseaseOrPhenotypicFeature denotes Bernard-Soulier syndrome D001606
T3 194-197 DiseaseOrPhenotypicFeature denotes BSS D001606
T4 219-227 DiseaseOrPhenotypicFeature denotes bleeding D006470
T5 543-546 DiseaseOrPhenotypicFeature denotes BSS D001606
T6 615-618 DiseaseOrPhenotypicFeature denotes BSS D001606
T7 1390-1393 DiseaseOrPhenotypicFeature denotes BSS D001606

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 963-973 ChemicalEntity denotes asparagine http://purl.obolibrary.org/obo/CHEBI_22653
T2 981-988 ChemicalEntity denotes alanine http://purl.obolibrary.org/obo/CHEBI_16449
T3 1032-1040 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_32696|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_16467
T6 1042-1051 ChemicalEntity denotes threonine http://purl.obolibrary.org/obo/CHEBI_26986
T7 1057-1064 ChemicalEntity denotes proline http://purl.obolibrary.org/obo/CHEBI_26271|http://purl.obolibrary.org/obo/CHEBI_17203
T9 1130-1140 ChemicalEntity denotes asparagine http://purl.obolibrary.org/obo/CHEBI_22653
T10 1151-1157 ChemicalEntity denotes serine http://purl.obolibrary.org/obo/CHEBI_17822

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 129-136 OrganismTaxon denotes patient
T2 524-527 OrganismTaxon denotes GPV
T3 805-812 OrganismTaxon denotes patient
T4 873-880 OrganismTaxon denotes gene, a
T5 1411-1418 OrganismTaxon denotes patient

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T10 1151-1157 ChemicalEntity denotes serine http://purl.obolibrary.org/obo/CHEBI_17822
T9 1130-1140 ChemicalEntity denotes asparagine http://purl.obolibrary.org/obo/CHEBI_22653
T7 1057-1064 ChemicalEntity denotes proline http://purl.obolibrary.org/obo/CHEBI_17203|http://purl.obolibrary.org/obo/CHEBI_26271
T6 1042-1051 ChemicalEntity denotes threonine http://purl.obolibrary.org/obo/CHEBI_26986
T3 1032-1040 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_16467|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_32696
T2 981-988 ChemicalEntity denotes alanine http://purl.obolibrary.org/obo/CHEBI_16449
T1 963-973 ChemicalEntity denotes asparagine http://purl.obolibrary.org/obo/CHEBI_22653
T1703 1356-1360 GeneOrGeneProduct denotes GPIX
T13732 868-872 GeneOrGeneProduct denotes GPIX
T5 730-743 GeneOrGeneProduct denotes glycoproteins
T4 347-368 GeneOrGeneProduct denotes von Willebrand factor
T64828 316-318 GeneOrGeneProduct denotes GP
T85033 293-314 GeneOrGeneProduct denotes platelet glycoprotein
T10895 103-118 GeneOrGeneProduct denotes glycoprotein IX
T31583 1390-1393 DiseaseOrPhenotypicFeature denotes BSS D001606
T4698 615-618 DiseaseOrPhenotypicFeature denotes BSS D001606
T23055 543-546 DiseaseOrPhenotypicFeature denotes BSS D001606
T93671 219-227 DiseaseOrPhenotypicFeature denotes bleeding D006470
T9580 194-197 DiseaseOrPhenotypicFeature denotes BSS D001606
T73250 168-192 DiseaseOrPhenotypicFeature denotes Bernard-Soulier syndrome D001606
T97857 142-166 DiseaseOrPhenotypicFeature denotes Bernard-Soulier syndrome D001606
T49448 1411-1418 OrganismTaxon denotes patient
T40043 873-880 OrganismTaxon denotes gene, a
T26416 805-812 OrganismTaxon denotes patient
T48347 524-527 OrganismTaxon denotes GPV
T97299 129-136 OrganismTaxon denotes patient
T11172 1215-1223 SequenceVariant denotes Asn45Ser
T24351 69-77 SequenceVariant denotes Asn45Ser

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-167 Sentence denotes Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome.
TextSentencer_T2 168-378 Sentence denotes Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor.
TextSentencer_T3 379-448 Sentence denotes The complex comprises four subunits, each encoded by a separate gene.
TextSentencer_T4 449-547 Sentence denotes Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS.
TextSentencer_T5 548-619 Sentence denotes We describe here the genetic basis of the disorder in a child with BSS.
TextSentencer_T6 620-769 Sentence denotes Flow-cytometric analysis of the patient's platelets showed a markedly reduced surface expression of all three glycoproteins of the GPIb/IX/V complex.
TextSentencer_T7 770-1178 Sentence denotes DNA sequencing analysis showed the patient to be a compound heterozygote for two mutations in the GPIX gene, a novel nine-nucleotide deletion starting at position 1952 of the gene that changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline) and a previously reported point mutation that changes the codon asparagine (AAC) for serine (AGC) at residue 45.
TextSentencer_T8 1179-1283 Sentence denotes Her mother was heterozygous for the Asn45Ser mutation, and her father, for the nine-nucleotide deletion.
TextSentencer_T9 1284-1419 Sentence denotes Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient.
T1 0-167 Sentence denotes Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome.
T2 168-378 Sentence denotes Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor.
T3 379-448 Sentence denotes The complex comprises four subunits, each encoded by a separate gene.
T4 449-547 Sentence denotes Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS.
T5 548-619 Sentence denotes We describe here the genetic basis of the disorder in a child with BSS.
T6 620-769 Sentence denotes Flow-cytometric analysis of the patient's platelets showed a markedly reduced surface expression of all three glycoproteins of the GPIb/IX/V complex.
T7 770-1178 Sentence denotes DNA sequencing analysis showed the patient to be a compound heterozygote for two mutations in the GPIX gene, a novel nine-nucleotide deletion starting at position 1952 of the gene that changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline) and a previously reported point mutation that changes the codon asparagine (AAC) for serine (AGC) at residue 45.
T8 1179-1283 Sentence denotes Her mother was heterozygous for the Asn45Ser mutation, and her father, for the nine-nucleotide deletion.
T9 1284-1419 Sentence denotes Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient.

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
15609295-0#69#77#geners369980915 69-77 geners369980915 denotes Asn45Ser
15609295-0#142#166#diseaseC0005129 142-166 diseaseC0005129 denotes Bernard-Soulier syndrome
69#77#geners369980915142#166#diseaseC0005129 15609295-0#69#77#geners369980915 15609295-0#142#166#diseaseC0005129 associated_with Asn45Ser,Bernard-Soulier syndrome

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
15609295-0#103#118#gene2815 103-118 gene2815 denotes glycoprotein IX
15609295-0#142#166#diseaseC0005129 142-166 diseaseC0005129 denotes Bernard-Soulier syndrome
15609295-1#152#157#gene653247 320-325 gene653247 denotes Ib/IX
15609295-1#179#200#gene7450 347-368 gene7450 denotes von Willebrand factor
15609295-1#0#24#diseaseC0005129 168-192 diseaseC0005129 denotes Bernard-Soulier syndrome
15609295-1#26#29#diseaseC0005129 194-197 diseaseC0005129 denotes BSS
15609295-1#51#68#diseaseC0005779 219-236 diseaseC0005779 denotes bleeding disorder
15609295-1#0#24#diseaseC0005129 168-192 diseaseC0005129 denotes Bernard-Soulier syndrome
15609295-1#26#29#diseaseC0005129 194-197 diseaseC0005129 denotes BSS
15609295-3#75#78#gene2814 524-527 gene2814 denotes GPV
15609295-3#94#97#diseaseC0005129 543-546 diseaseC0005129 denotes BSS
103#118#gene2815142#166#diseaseC0005129 15609295-0#103#118#gene2815 15609295-0#142#166#diseaseC0005129 associated_with glycoprotein IX,Bernard-Soulier syndrome
152#157#gene6532470#24#diseaseC0005129 15609295-1#152#157#gene653247 15609295-1#0#24#diseaseC0005129 associated_with Ib/IX,Bernard-Soulier syndrome
152#157#gene65324726#29#diseaseC0005129 15609295-1#152#157#gene653247 15609295-1#26#29#diseaseC0005129 associated_with Ib/IX,BSS
152#157#gene65324751#68#diseaseC0005779 15609295-1#152#157#gene653247 15609295-1#51#68#diseaseC0005779 associated_with Ib/IX,bleeding disorder
152#157#gene6532470#24#diseaseC0005129 15609295-1#152#157#gene653247 15609295-1#0#24#diseaseC0005129 associated_with Ib/IX,Bernard-Soulier syndrome
152#157#gene65324726#29#diseaseC0005129 15609295-1#152#157#gene653247 15609295-1#26#29#diseaseC0005129 associated_with Ib/IX,BSS
179#200#gene74500#24#diseaseC0005129 15609295-1#179#200#gene7450 15609295-1#0#24#diseaseC0005129 associated_with von Willebrand factor,Bernard-Soulier syndrome
179#200#gene745026#29#diseaseC0005129 15609295-1#179#200#gene7450 15609295-1#26#29#diseaseC0005129 associated_with von Willebrand factor,BSS
179#200#gene745051#68#diseaseC0005779 15609295-1#179#200#gene7450 15609295-1#51#68#diseaseC0005779 associated_with von Willebrand factor,bleeding disorder
179#200#gene74500#24#diseaseC0005129 15609295-1#179#200#gene7450 15609295-1#0#24#diseaseC0005129 associated_with von Willebrand factor,Bernard-Soulier syndrome
179#200#gene745026#29#diseaseC0005129 15609295-1#179#200#gene7450 15609295-1#26#29#diseaseC0005129 associated_with von Willebrand factor,BSS
75#78#gene281494#97#diseaseC0005129 15609295-3#75#78#gene2814 15609295-3#94#97#diseaseC0005129 associated_with GPV,BSS

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 168-192 ORDO:274 denotes Bernard-Soulier syndrome
TI1 142-166 ORDO:274 denotes Bernard-Soulier syndrome

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 69-77 ProteinMutation:p|SUB|N|45|S denotes Asn45Ser
T2 1215-1223 ProteinMutation:p|SUB|N|45|S denotes Asn45Ser

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1356-1360 gene:2815 denotes GPIX
T1 1390-1393 disease:C1857941 denotes BSS
R1 T0 T1 associated_with GPIX,BSS