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PubMed:20854438 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
20854438_0 1182-1231 ProteinMutation denotes glycine to arginine substitution at amino acid 86 rs28937888
20854438_1 1233-1237 ProteinMutation denotes G86R rs28937888
20854438_2 1496-1500 ProteinMutation denotes G86R rs28937888
20854438_3 1688-1692 ProteinMutation denotes G86R rs28937888

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 1002-1007 OrganismTaxon denotes Human NCBItxid:9606
T2 1606-1611 OrganismTaxon denotes human NCBItxid:9606

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-74 Sentence denotes SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda.
T2 75-86 Sentence denotes BACKGROUND:
T3 87-326 Sentence denotes Mal de Meleda (MDM) is palmoplantar erythrokeratoderma with an autosomal recessive inheritance and is caused by a mutation in the gene encoding SLURP-1 (lymphocyte antigen 6/urokinase-type plasminogen activator receptor related protein-1).
T4 327-447 Sentence denotes SLURP-1 is an allosteric agonist to the nicotinic acetylcholine receptor (nAchR) and it regulates epidermal homeostasis.
T5 448-560 Sentence denotes In addition, murine studies have shown that nAchR signalling is important for the regulation of T-cell function.
T6 561-809 Sentence denotes Among the family members, patients with the homozygous SLURP1 (previously known as ARS component B) mutation are prone to melanoma and viral infection, which might link to defective T-cell function as well as a derangement of epidermal homeostasis.
T7 810-821 Sentence denotes OBJECTIVES:
T8 822-935 Sentence denotes To investigate the association of the SLURP1 gene mutation with T-cell activation in a Taiwanese family with MDM.
T9 936-992 Sentence denotes To test that SLURP-1 is essential for T-cell activation.
T10 993-1001 Sentence denotes METHODS:
T11 1002-1262 Sentence denotes Human peripheral blood mononuclear cells (PBMCs) were isolated from a Taiwanese MDM family bearing the G to A substitution in nucleotide 256 in the SLURP1 gene, corresponding to a glycine to arginine substitution at amino acid 86 (G86R) in the SLURP-1 protein.
T12 1263-1435 Sentence denotes PBMCs from homozygotes and wild-type controls were stimulated with anti-CD3/anti-CD28 antibodies and the level of T-cell activation was determined by the stimulation index.
T13 1436-1542 Sentence denotes RESULTS: PBMCs with the heterozygous and homozygous SLURP-1 G86R mutation had defective T-cell activation.
T14 1543-1628 Sentence denotes This was restored by the addition of 0·5 μg mL(-1) recombinant human SLURP-1 protein.
T15 1629-1641 Sentence denotes CONCLUSIONS:
T16 1642-1741 Sentence denotes Patients with MDM with the homozygous SLURP-1 G86R mutation may have an impaired T-cell activation.
T17 1742-1818 Sentence denotes The presence of wild-type SLURP-1 is essential for normal T-cell activation.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
8088 0-6 GeneOrGeneProduct denotes SLURP1 NCBIGene:57152
8089 60-73 DiseaseOrPhenotypicFeature denotes mal de Meleda MESH:D007645
8090 87-100 DiseaseOrPhenotypicFeature denotes Mal de Meleda MESH:D007645
8091 102-105 DiseaseOrPhenotypicFeature denotes MDM MESH:D007645
8092 110-141 DiseaseOrPhenotypicFeature denotes palmoplantar erythrokeratoderma MESH:C563781
8093 231-238 GeneOrGeneProduct denotes SLURP-1 NCBIGene:57152
8094 240-260 GeneOrGeneProduct denotes lymphocyte antigen 6 NCBIGene:57152
8095 261-324 GeneOrGeneProduct denotes urokinase-type plasminogen activator receptor related protein-1 NCBIGene:57152
8096 327-334 GeneOrGeneProduct denotes SLURP-1 NCBIGene:57152
8097 367-399 GeneOrGeneProduct denotes nicotinic acetylcholine receptor NCBIGene:1137
8098 401-406 GeneOrGeneProduct denotes nAchR NCBIGene:1137
8099 461-467 OrganismTaxon denotes murine NCBITaxon:10090
8100 492-497 GeneOrGeneProduct denotes nAchR NCBIGene:11441
8101 587-595 OrganismTaxon denotes patients NCBITaxon:9606
8102 616-622 GeneOrGeneProduct denotes SLURP1 NCBIGene:57152
8103 683-691 DiseaseOrPhenotypicFeature denotes melanoma MESH:D008545
8104 696-711 DiseaseOrPhenotypicFeature denotes viral infection MESH:D014777
8105 860-866 GeneOrGeneProduct denotes SLURP1 NCBIGene:57152
8106 931-934 DiseaseOrPhenotypicFeature denotes MDM MESH:D007645
8107 949-956 GeneOrGeneProduct denotes SLURP-1 NCBIGene:57152
8108 1002-1007 OrganismTaxon denotes Human NCBITaxon:9606
8109 1082-1085 DiseaseOrPhenotypicFeature denotes MDM MESH:D007645
8110 1105-1142 SequenceVariant denotes G to A substitution in nucleotide 256 DBSNP:rs28937888
8111 1150-1156 GeneOrGeneProduct denotes SLURP1 NCBIGene:57152
8112 1182-1231 SequenceVariant denotes glycine to arginine substitution at amino acid 86 DBSNP:rs28937888
8113 1233-1237 SequenceVariant denotes G86R DBSNP:rs28937888
8114 1246-1253 GeneOrGeneProduct denotes SLURP-1 NCBIGene:57152
8115 1335-1338 GeneOrGeneProduct denotes CD3 NCBIGene:915
8116 1344-1348 GeneOrGeneProduct denotes CD28 NCBIGene:940
8117 1488-1495 GeneOrGeneProduct denotes SLURP-1 NCBIGene:57152
8118 1496-1500 SequenceVariant denotes G86R DBSNP:rs28937888
8119 1606-1611 OrganismTaxon denotes human NCBITaxon:9606
8120 1612-1619 GeneOrGeneProduct denotes SLURP-1 NCBIGene:57152
8121 1642-1650 OrganismTaxon denotes Patients NCBITaxon:9606
8122 1656-1659 DiseaseOrPhenotypicFeature denotes MDM MESH:D007645
8123 1680-1687 GeneOrGeneProduct denotes SLURP-1 NCBIGene:57152
8124 1688-1692 SequenceVariant denotes G86R DBSNP:rs28937888
8125 1768-1775 GeneOrGeneProduct denotes SLURP-1 NCBIGene:57152

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 60-73 DiseaseOrPhenotypicFeature denotes mal de Meleda 0009552
T2 87-100 DiseaseOrPhenotypicFeature denotes Mal de Meleda 0009552
T3 123-141 DiseaseOrPhenotypicFeature denotes erythrokeratoderma 0019270
T4 170-181 DiseaseOrPhenotypicFeature denotes inheritance 0021152
T5 683-691 DiseaseOrPhenotypicFeature denotes melanoma 0005105

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 1233-1237 SequenceVariant denotes G86R
T2 1496-1500 SequenceVariant denotes G86R
T3 1688-1692 SequenceVariant denotes G86R

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 0-6 GeneOrGeneProduct denotes SLURP1
T2 7-15 GeneOrGeneProduct denotes mutation
T3 27-31 GeneOrGeneProduct denotes cell
T4 32-42 GeneOrGeneProduct denotes activation
T5 60-63 GeneOrGeneProduct denotes mal
T6 87-90 GeneOrGeneProduct denotes Mal
T7 201-209 GeneOrGeneProduct denotes mutation
T8 231-238 GeneOrGeneProduct denotes SLURP-1
T9 240-258 GeneOrGeneProduct denotes lymphocyte antigen
T10 261-306 GeneOrGeneProduct denotes urokinase-type plasminogen activator receptor
T11 307-322 GeneOrGeneProduct denotes related protein
T12 327-334 GeneOrGeneProduct denotes SLURP-1
T13 367-399 GeneOrGeneProduct denotes nicotinic acetylcholine receptor
T14 401-406 GeneOrGeneProduct denotes nAchR
T15 415-424 GeneOrGeneProduct denotes regulates
T16 492-497 GeneOrGeneProduct denotes nAchR
T17 530-540 GeneOrGeneProduct denotes regulation
T18 546-550 GeneOrGeneProduct denotes cell
T19 616-622 GeneOrGeneProduct denotes SLURP1
T20 644-659 GeneOrGeneProduct denotes ARS component B
T21 661-669 GeneOrGeneProduct denotes mutation
T22 725-729 GeneOrGeneProduct denotes link
T23 733-742 GeneOrGeneProduct denotes defective
T24 745-749 GeneOrGeneProduct denotes cell
T25 772-783 GeneOrGeneProduct denotes derangement
T26 860-866 GeneOrGeneProduct denotes SLURP1
T27 872-880 GeneOrGeneProduct denotes mutation
T28 888-892 GeneOrGeneProduct denotes cell
T29 893-903 GeneOrGeneProduct denotes activation
T30 939-943 GeneOrGeneProduct denotes test
T31 949-956 GeneOrGeneProduct denotes SLURP-1
T32 976-980 GeneOrGeneProduct denotes cell
T33 981-991 GeneOrGeneProduct denotes activation
T34 993-1000 GeneOrGeneProduct denotes METHODS
T35 1037-1042 GeneOrGeneProduct denotes cells
T36 1150-1156 GeneOrGeneProduct denotes SLURP1
T37 1218-1228 GeneOrGeneProduct denotes amino acid
T38 1246-1253 GeneOrGeneProduct denotes SLURP-1
T39 1254-1261 GeneOrGeneProduct denotes protein
T40 1335-1338 GeneOrGeneProduct denotes CD3
T41 1344-1348 GeneOrGeneProduct denotes CD28
T42 1379-1383 GeneOrGeneProduct denotes cell
T43 1384-1394 GeneOrGeneProduct denotes activation
T44 1399-1409 GeneOrGeneProduct denotes determined
T45 1488-1495 GeneOrGeneProduct denotes SLURP-1
T46 1501-1509 GeneOrGeneProduct denotes mutation
T47 1514-1523 GeneOrGeneProduct denotes defective
T48 1526-1530 GeneOrGeneProduct denotes cell
T49 1531-1541 GeneOrGeneProduct denotes activation
T50 1587-1593 GeneOrGeneProduct denotes mL(-1)
T51 1594-1605 GeneOrGeneProduct denotes recombinant
T52 1612-1619 GeneOrGeneProduct denotes SLURP-1
T53 1620-1627 GeneOrGeneProduct denotes protein
T54 1680-1687 GeneOrGeneProduct denotes SLURP-1
T55 1693-1701 GeneOrGeneProduct denotes mutation
T56 1725-1729 GeneOrGeneProduct denotes cell
T57 1730-1740 GeneOrGeneProduct denotes activation
T58 1768-1775 GeneOrGeneProduct denotes SLURP-1
T59 1802-1806 GeneOrGeneProduct denotes cell
T60 1807-1817 GeneOrGeneProduct denotes activation

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 0-6 GeneOrGeneProduct denotes SLURP1
T2 27-31 GeneOrGeneProduct denotes cell
T3 60-63 GeneOrGeneProduct denotes mal
T4 87-90 GeneOrGeneProduct denotes Mal
T5 231-238 GeneOrGeneProduct denotes SLURP-1
T6 240-258 GeneOrGeneProduct denotes lymphocyte antigen
T7 261-306 GeneOrGeneProduct denotes urokinase-type plasminogen activator receptor
T8 307-322 GeneOrGeneProduct denotes related protein
T9 327-334 GeneOrGeneProduct denotes SLURP-1
T10 367-399 GeneOrGeneProduct denotes nicotinic acetylcholine receptor
T11 401-406 GeneOrGeneProduct denotes nAchR
T12 492-497 GeneOrGeneProduct denotes nAchR
T13 546-550 GeneOrGeneProduct denotes cell
T14 616-622 GeneOrGeneProduct denotes SLURP1
T15 644-659 GeneOrGeneProduct denotes ARS component B
T16 725-729 GeneOrGeneProduct denotes link
T17 733-742 GeneOrGeneProduct denotes defective
T18 745-749 GeneOrGeneProduct denotes cell
T19 860-866 GeneOrGeneProduct denotes SLURP1
T20 888-892 GeneOrGeneProduct denotes cell
T21 949-956 GeneOrGeneProduct denotes SLURP-1
T22 976-980 GeneOrGeneProduct denotes cell
T23 1150-1156 GeneOrGeneProduct denotes SLURP1
T24 1218-1228 GeneOrGeneProduct denotes amino acid
T25 1246-1253 GeneOrGeneProduct denotes SLURP-1
T26 1254-1261 GeneOrGeneProduct denotes protein
T27 1344-1348 GeneOrGeneProduct denotes CD28
T28 1379-1383 GeneOrGeneProduct denotes cell
T29 1488-1495 GeneOrGeneProduct denotes SLURP-1
T30 1514-1523 GeneOrGeneProduct denotes defective
T31 1526-1530 GeneOrGeneProduct denotes cell
T32 1612-1619 GeneOrGeneProduct denotes SLURP-1
T33 1620-1627 GeneOrGeneProduct denotes protein
T34 1680-1687 GeneOrGeneProduct denotes SLURP-1
T35 1725-1729 GeneOrGeneProduct denotes cell
T36 1768-1775 GeneOrGeneProduct denotes SLURP-1
T37 1802-1806 GeneOrGeneProduct denotes cell

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 60-73 DiseaseOrPhenotypicFeature denotes mal de Meleda D007645
T2 87-100 DiseaseOrPhenotypicFeature denotes Mal de Meleda D007645
T3 102-105 DiseaseOrPhenotypicFeature denotes MDM D007645
T4 683-691 DiseaseOrPhenotypicFeature denotes melanoma D008545
T5 696-711 DiseaseOrPhenotypicFeature denotes viral infection D014777
T6 931-934 DiseaseOrPhenotypicFeature denotes MDM D007645
T7 1082-1085 DiseaseOrPhenotypicFeature denotes MDM D007645
T8 1656-1659 DiseaseOrPhenotypicFeature denotes MDM D007645

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 0-6 GeneOrGeneProduct denotes SLURP1
T2 60-63 GeneOrGeneProduct denotes mal
T3 87-90 GeneOrGeneProduct denotes Mal
T4 231-238 GeneOrGeneProduct denotes SLURP-1
T5 240-258 GeneOrGeneProduct denotes lymphocyte antigen
T6 261-306 GeneOrGeneProduct denotes urokinase-type plasminogen activator receptor
T7 315-324 GeneOrGeneProduct denotes protein-1
T8 327-334 GeneOrGeneProduct denotes SLURP-1
T9 367-399 GeneOrGeneProduct denotes nicotinic acetylcholine receptor
T10 401-406 GeneOrGeneProduct denotes nAchR
T11 492-497 GeneOrGeneProduct denotes nAchR
T12 616-622 GeneOrGeneProduct denotes SLURP1
T13 644-659 GeneOrGeneProduct denotes ARS component B
T14 860-866 GeneOrGeneProduct denotes SLURP1
T15 949-956 GeneOrGeneProduct denotes SLURP-1
T16 1150-1156 GeneOrGeneProduct denotes SLURP1
T17 1246-1253 GeneOrGeneProduct denotes SLURP-1
T18 1344-1348 GeneOrGeneProduct denotes CD28
T19 1488-1495 GeneOrGeneProduct denotes SLURP-1
T20 1612-1619 GeneOrGeneProduct denotes SLURP-1
T21 1680-1687 GeneOrGeneProduct denotes SLURP-1
T22 1768-1775 GeneOrGeneProduct denotes SLURP-1

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 60-73 DiseaseOrPhenotypicFeature denotes mal de Meleda 0009552
T2 87-100 DiseaseOrPhenotypicFeature denotes Mal de Meleda 0009552
T3 102-105 DiseaseOrPhenotypicFeature denotes MDM 0009552
T4 123-141 DiseaseOrPhenotypicFeature denotes erythrokeratoderma 0019270
T5 644-647 DiseaseOrPhenotypicFeature denotes ARS 0014648
T6 683-691 DiseaseOrPhenotypicFeature denotes melanoma 0005105
T7 696-711 DiseaseOrPhenotypicFeature denotes viral infection 0005108
T8 931-934 DiseaseOrPhenotypicFeature denotes MDM 0009552
T9 1082-1085 DiseaseOrPhenotypicFeature denotes MDM 0009552
T10 1656-1659 DiseaseOrPhenotypicFeature denotes MDM 0009552

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 60-73 DiseaseOrPhenotypicFeature denotes mal de Meleda D007645
T2 87-100 DiseaseOrPhenotypicFeature denotes Mal de Meleda D007645
T3 102-105 DiseaseOrPhenotypicFeature denotes MDM D007645
T4 110-141 DiseaseOrPhenotypicFeature denotes palmoplantar erythrokeratoderma DISEASE
T5 683-691 DiseaseOrPhenotypicFeature denotes melanoma D008545
T6 696-711 DiseaseOrPhenotypicFeature denotes viral infection D014777
T7 931-934 DiseaseOrPhenotypicFeature denotes MDM D007645
T8 1082-1085 DiseaseOrPhenotypicFeature denotes MDM D007645
T9 1656-1659 DiseaseOrPhenotypicFeature denotes MDM D007645

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 60-73 DiseaseOrPhenotypicFeature denotes mal de Meleda D007645
T2 87-100 DiseaseOrPhenotypicFeature denotes Mal de Meleda D007645
T3 102-105 DiseaseOrPhenotypicFeature denotes MDM D007645
T4 110-141 DiseaseOrPhenotypicFeature denotes palmoplantar erythrokeratoderma DISEASE
T5 683-691 DiseaseOrPhenotypicFeature denotes melanoma D008545
T6 696-711 DiseaseOrPhenotypicFeature denotes viral infection D014777
T7 931-934 DiseaseOrPhenotypicFeature denotes MDM D007645
T8 1082-1085 DiseaseOrPhenotypicFeature denotes MDM D007645
T9 1656-1659 DiseaseOrPhenotypicFeature denotes MDM D007645

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 461-467 OrganismTaxon denotes murine
T2 587-595 OrganismTaxon denotes patients
T3 1002-1007 OrganismTaxon denotes Human
T4 1606-1611 OrganismTaxon denotes human

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 60-63 ChemicalEntity denotes mal http://purl.obolibrary.org/obo/CHEBI_15595
T2 377-390 ChemicalEntity denotes acetylcholine D000109|http://purl.obolibrary.org/obo/CHEBI_15355
T4 1182-1189 ChemicalEntity denotes glycine http://purl.obolibrary.org/obo/CHEBI_57305|http://purl.obolibrary.org/obo/CHEBI_29947|http://purl.obolibrary.org/obo/CHEBI_15428
T7 1193-1201 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_32696|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_16467
T10 1606-1627 ChemicalEntity denotes human SLURP-1 protein C048963

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T10 1606-1627 ChemicalEntity denotes human SLURP-1 protein C048963
T7 1193-1201 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_16467|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_32696
T4 1182-1189 ChemicalEntity denotes glycine http://purl.obolibrary.org/obo/CHEBI_15428|http://purl.obolibrary.org/obo/CHEBI_29947|http://purl.obolibrary.org/obo/CHEBI_57305
T2 377-390 ChemicalEntity denotes acetylcholine http://purl.obolibrary.org/obo/CHEBI_15355|D000109
T1 60-63 ChemicalEntity denotes mal http://purl.obolibrary.org/obo/CHEBI_15595
T22 1768-1775 GeneOrGeneProduct denotes SLURP-1
T21 1680-1687 GeneOrGeneProduct denotes SLURP-1
T20 1612-1619 GeneOrGeneProduct denotes SLURP-1
T19 1488-1495 GeneOrGeneProduct denotes SLURP-1
T18 1344-1348 GeneOrGeneProduct denotes CD28
T17 1246-1253 GeneOrGeneProduct denotes SLURP-1
T16 1150-1156 GeneOrGeneProduct denotes SLURP1
T15 949-956 GeneOrGeneProduct denotes SLURP-1
T14 860-866 GeneOrGeneProduct denotes SLURP1
T13 644-659 GeneOrGeneProduct denotes ARS component B
T12 616-622 GeneOrGeneProduct denotes SLURP1
T11 492-497 GeneOrGeneProduct denotes nAchR
T95788 401-406 GeneOrGeneProduct denotes nAchR
T9 367-399 GeneOrGeneProduct denotes nicotinic acetylcholine receptor
T8 327-334 GeneOrGeneProduct denotes SLURP-1
T34883 315-324 GeneOrGeneProduct denotes protein-1
T6 261-306 GeneOrGeneProduct denotes urokinase-type plasminogen activator receptor
T5 240-258 GeneOrGeneProduct denotes lymphocyte antigen
T14785 231-238 GeneOrGeneProduct denotes SLURP-1
T3 87-90 GeneOrGeneProduct denotes Mal
T72236 60-63 GeneOrGeneProduct denotes mal
T76591 0-6 GeneOrGeneProduct denotes SLURP1
T39460 1656-1659 DiseaseOrPhenotypicFeature denotes MDM D007645
T94657 1082-1085 DiseaseOrPhenotypicFeature denotes MDM D007645
T60401 931-934 DiseaseOrPhenotypicFeature denotes MDM D007645
T87085 696-711 DiseaseOrPhenotypicFeature denotes viral infection D014777
T28887 683-691 DiseaseOrPhenotypicFeature denotes melanoma D008545
T15789 110-141 DiseaseOrPhenotypicFeature denotes palmoplantar erythrokeratoderma DISEASE
T83571 102-105 DiseaseOrPhenotypicFeature denotes MDM D007645
T36030 87-100 DiseaseOrPhenotypicFeature denotes Mal de Meleda D007645
T36666 60-73 DiseaseOrPhenotypicFeature denotes mal de Meleda D007645
T80832 1606-1611 OrganismTaxon denotes human
T77345 1002-1007 OrganismTaxon denotes Human
T81846 587-595 OrganismTaxon denotes patients
T47895 461-467 OrganismTaxon denotes murine
T64288 1688-1692 SequenceVariant denotes G86R
T66181 1496-1500 SequenceVariant denotes G86R
T1064 1233-1237 SequenceVariant denotes G86R

DisGeNET

Id Subject Object Predicate Lexical cue
T0 616-622 gene:57152 denotes SLURP1
T1 683-691 disease:C0025202 denotes melanoma
T2 616-622 gene:57152 denotes SLURP1
T3 696-711 disease:C0042769 denotes viral infection
T4 644-659 gene:57152 denotes ARS component B
T5 683-691 disease:C0025202 denotes melanoma
T6 644-659 gene:57152 denotes ARS component B
T7 696-711 disease:C0042769 denotes viral infection
R1 T0 T1 associated_with SLURP1,melanoma
R2 T2 T3 associated_with SLURP1,viral infection
R3 T4 T5 associated_with ARS component B,melanoma
R4 T6 T7 associated_with ARS component B,viral infection

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 150-181 HP_0000007 denotes autosomal recessive inheritance
T2 150-169 HP_0000007 denotes autosomal recessive
T3 683-691 HP_0002861 denotes melanoma
T4 733-749 HP_0002843 denotes defective T-cell

Allie

Id Subject Object Predicate Lexical cue
SS1_20854438_2_0 87-100 expanded denotes Mal de Meleda
SS2_20854438_2_0 102-105 abbr denotes MDM
SS1_20854438_3_0 367-399 expanded denotes nicotinic acetylcholine receptor
SS2_20854438_3_0 401-406 abbr denotes nAchR
SS1_20854438_10_0 1008-1042 expanded denotes peripheral blood mononuclear cells
SS2_20854438_10_0 1044-1049 abbr denotes PBMCs
SS1_20854438_10_1 1182-1231 expanded denotes glycine to arginine substitution at amino acid 86
SS2_20854438_10_1 1233-1237 abbr denotes G86R
AE1_20854438_2_0 SS1_20854438_2_0 SS2_20854438_2_0 abbreviatedTo Mal de Meleda,MDM
AE1_20854438_3_0 SS1_20854438_3_0 SS2_20854438_3_0 abbreviatedTo nicotinic acetylcholine receptor,nAchR
AE1_20854438_10_0 SS1_20854438_10_0 SS2_20854438_10_0 abbreviatedTo peripheral blood mononuclear cells,PBMCs
AE1_20854438_10_1 SS1_20854438_10_1 SS2_20854438_10_1 abbreviatedTo glycine to arginine substitution at amino acid 86,G86R

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
20854438-11#46#50#geners28937888 1688-1692 geners28937888 denotes G86R
20854438-11#46#50#geners112121360 1688-1692 geners112121360 denotes G86R
20854438-11#46#50#geners200751829 1688-1692 geners200751829 denotes G86R
20854438-11#14#17#diseaseC0025221 1656-1659 diseaseC0025221 denotes MDM
46#50#geners2893788814#17#diseaseC0025221 20854438-11#46#50#geners28937888 20854438-11#14#17#diseaseC0025221 associated_with G86R,MDM
46#50#geners11212136014#17#diseaseC0025221 20854438-11#46#50#geners112121360 20854438-11#14#17#diseaseC0025221 associated_with G86R,MDM
46#50#geners20075182914#17#diseaseC0025221 20854438-11#46#50#geners200751829 20854438-11#14#17#diseaseC0025221 associated_with G86R,MDM

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
20854438-0#0#6#gene57152 327-334 gene57152 denotes SLURP-1
20854438-0#60#73#diseaseC0025221 1004-1071 diseaseC0025221 denotes man peripheral blood mononuclear cells (PBMCs) were isolated from a
20854438-1#153#171#gene3111 240-258 gene3111 denotes lymphocyte antigen
20854438-1#174#210#gene5328 261-297 gene5328 denotes urokinase-type plasminogen activator
20854438-1#0#13#diseaseC0025221 87-100 diseaseC0025221 denotes Mal de Meleda
20854438-1#15#18#diseaseC0025221 102-105 diseaseC0025221 denotes MDM
20854438-1#0#13#diseaseC0025221 87-100 diseaseC0025221 denotes Mal de Meleda
20854438-1#15#18#diseaseC0025221 102-105 diseaseC0025221 denotes MDM
20854438-4#55#61#gene57152 616-622 gene57152 denotes SLURP1
20854438-4#83#98#gene57152 644-659 gene57152 denotes ARS component B
20854438-4#122#130#diseaseC0025202 683-691 diseaseC0025202 denotes melanoma
20854438-4#135#150#diseaseC0042769 696-711 diseaseC0042769 denotes viral infection
20854438-4#122#130#diseaseC0025202 683-691 diseaseC0025202 denotes melanoma
20854438-4#135#150#diseaseC0042769 696-711 diseaseC0042769 denotes viral infection
0#6#gene5715260#73#diseaseC0025221 20854438-0#0#6#gene57152 20854438-0#60#73#diseaseC0025221 associated_with SLURP-1,man peripheral blood mononuclear cells (PBMCs) were isolated from a
153#171#gene31110#13#diseaseC0025221 20854438-1#153#171#gene3111 20854438-1#0#13#diseaseC0025221 associated_with lymphocyte antigen,Mal de Meleda
153#171#gene311115#18#diseaseC0025221 20854438-1#153#171#gene3111 20854438-1#15#18#diseaseC0025221 associated_with lymphocyte antigen,MDM
153#171#gene31110#13#diseaseC0025221 20854438-1#153#171#gene3111 20854438-1#0#13#diseaseC0025221 associated_with lymphocyte antigen,Mal de Meleda
153#171#gene311115#18#diseaseC0025221 20854438-1#153#171#gene3111 20854438-1#15#18#diseaseC0025221 associated_with lymphocyte antigen,MDM
174#210#gene53280#13#diseaseC0025221 20854438-1#174#210#gene5328 20854438-1#0#13#diseaseC0025221 associated_with urokinase-type plasminogen activator,Mal de Meleda
174#210#gene532815#18#diseaseC0025221 20854438-1#174#210#gene5328 20854438-1#15#18#diseaseC0025221 associated_with urokinase-type plasminogen activator,MDM
174#210#gene53280#13#diseaseC0025221 20854438-1#174#210#gene5328 20854438-1#0#13#diseaseC0025221 associated_with urokinase-type plasminogen activator,Mal de Meleda
174#210#gene532815#18#diseaseC0025221 20854438-1#174#210#gene5328 20854438-1#15#18#diseaseC0025221 associated_with urokinase-type plasminogen activator,MDM
55#61#gene57152122#130#diseaseC0025202 20854438-4#55#61#gene57152 20854438-4#122#130#diseaseC0025202 associated_with SLURP1,melanoma
55#61#gene57152135#150#diseaseC0042769 20854438-4#55#61#gene57152 20854438-4#135#150#diseaseC0042769 associated_with SLURP1,viral infection
55#61#gene57152122#130#diseaseC0025202 20854438-4#55#61#gene57152 20854438-4#122#130#diseaseC0025202 associated_with SLURP1,melanoma
55#61#gene57152135#150#diseaseC0042769 20854438-4#55#61#gene57152 20854438-4#135#150#diseaseC0042769 associated_with SLURP1,viral infection
83#98#gene57152122#130#diseaseC0025202 20854438-4#83#98#gene57152 20854438-4#122#130#diseaseC0025202 associated_with ARS component B,melanoma
83#98#gene57152135#150#diseaseC0042769 20854438-4#83#98#gene57152 20854438-4#135#150#diseaseC0042769 associated_with ARS component B,viral infection
83#98#gene57152122#130#diseaseC0025202 20854438-4#83#98#gene57152 20854438-4#122#130#diseaseC0025202 associated_with ARS component B,melanoma
83#98#gene57152135#150#diseaseC0042769 20854438-4#83#98#gene57152 20854438-4#135#150#diseaseC0042769 associated_with ARS component B,viral infection

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 1233-1237 ProteinMutation:p|SUB|G|86|R denotes G86R
T2 1496-1500 ProteinMutation:p|SUB|G|86|R denotes G86R
T3 1688-1692 ProteinMutation:p|SUB|G|86|R denotes G86R