PubMed:17671735
Annnotations
LitCoin-sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-75 | Sentence | denotes | Coincidence of mutations in different connexin genes in Hungarian patients. |
| T2 | 76-197 | Sentence | denotes | Mutations in the GJB2 gene are the most common cause of hereditary prelingual sensorineural hearing impairment in Europe. |
| T3 | 198-325 | Sentence | denotes | Several studies indicate that different members of the connexin protein family interact to form gap junctions in the inner ear. |
| T4 | 326-424 | Sentence | denotes | Mutations in different connexin genes may accumulate and, consequently lead to hearing impairment. |
| T5 | 425-689 | Sentence | denotes | Therefore, we screened 47 Hungarian GJB2- heterozygous (one mutation in coding exon of the GJB2 gene) patients with hearing impairment for DNA changes in two further connexin genes (GJB6 and GJB3) and in the 5' non-coding region of GJB2 including the splice sites. |
| T6 | 690-813 | Sentence | denotes | Eleven out of 47 GJB2-heterozygous patients analyzed carried the splice site mutation -3170G>A in the 5'UTR region of GJB2. |
| T7 | 814-907 | Sentence | denotes | One out of these 11 patients showed homozygous -3170G>A genotype in combination with p.R127H. |
| T8 | 908-1129 | Sentence | denotes | Next to the GJB2 mutations we noted 2 cases of deletion in GJB6 [Delta(GJB6-D13S1830)] and 3 (2 new and 1 described) base substitutions in GJB3 [c.357C>T, c.798C>T and c.94C>T (p.R32W)] which are unlikely disease-causing. |
| T9 | 1130-1290 | Sentence | denotes | Our results suggest the importance of routine screening for the rather frequent -3170G>A mutation (in addition to c.35delG) in patients with hearing impairment. |
LitCoin-entities-OrganismTaxon-PD
| Id | Subject | Object | Predicate | Lexical cue | db_id |
|---|---|---|---|---|---|
| T1 | 973-978 | OrganismTaxon | denotes | Delta | NCBItxid:998453 |
LitCoin-entities
| Id | Subject | Object | Predicate | Lexical cue | db_id |
|---|---|---|---|---|---|
| 4289 | 66-74 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 4290 | 93-97 | GeneOrGeneProduct | denotes | GJB2 | NCBIGene:2706 |
| 4291 | 154-186 | DiseaseOrPhenotypicFeature | denotes | sensorineural hearing impairment | MESH:D034381 |
| 4292 | 405-423 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | MESH:D034381 |
| 4293 | 461-465 | GeneOrGeneProduct | denotes | GJB2 | NCBIGene:2706 |
| 4294 | 516-520 | GeneOrGeneProduct | denotes | GJB2 | NCBIGene:2706 |
| 4295 | 527-535 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 4296 | 541-559 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | MESH:D034381 |
| 4297 | 607-611 | GeneOrGeneProduct | denotes | GJB6 | NCBIGene:10804 |
| 4298 | 616-620 | GeneOrGeneProduct | denotes | GJB3 | NCBIGene:2707 |
| 4299 | 657-661 | GeneOrGeneProduct | denotes | GJB2 | NCBIGene:2706 |
| 4300 | 707-711 | GeneOrGeneProduct | denotes | GJB2 | NCBIGene:2706 |
| 4301 | 725-733 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 4302 | 776-784 | SequenceVariant | denotes | -3170G>A | c|SUB|G|-3170|A |
| 4303 | 808-812 | GeneOrGeneProduct | denotes | GJB2 | NCBIGene:2706 |
| 4304 | 834-842 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 4305 | 861-869 | SequenceVariant | denotes | -3170G>A | c|SUB|G|-3170|A |
| 4306 | 899-906 | SequenceVariant | denotes | p.R127H | DBSNP:rs111033196 |
| 4307 | 920-924 | GeneOrGeneProduct | denotes | GJB2 | NCBIGene:2706 |
| 4308 | 967-971 | GeneOrGeneProduct | denotes | GJB6 | NCBIGene:10804 |
| 4309 | 979-983 | GeneOrGeneProduct | denotes | GJB6 | NCBIGene:10804 |
| 4310 | 1047-1051 | GeneOrGeneProduct | denotes | GJB3 | NCBIGene:2707 |
| 4311 | 1053-1061 | SequenceVariant | denotes | c.357C>T | DBSNP:rs41310442 |
| 4312 | 1063-1071 | SequenceVariant | denotes | c.798C>T | DBSNP:rs35983826 |
| 4313 | 1076-1083 | SequenceVariant | denotes | c.94C>T | DBSNP:rs1805063 |
| 4314 | 1085-1091 | SequenceVariant | denotes | p.R32W | DBSNP:rs1805063 |
| 4315 | 1210-1218 | SequenceVariant | denotes | -3170G>A | c|SUB|G|-3170|A |
| 4316 | 1244-1252 | SequenceVariant | denotes | c.35delG | DBSNP:rs80338939 |
| 4317 | 1257-1265 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 4318 | 1271-1289 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | MESH:D034381 |
LitCoin-SeqVar
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 777-782 | SequenceVariant | denotes | 3170G |
| T2 | 862-867 | SequenceVariant | denotes | 3170G |
| T3 | 899-906 | SequenceVariant | denotes | p.R127H |
| T4 | 1053-1061 | SequenceVariant | denotes | c.357C>T |
| T5 | 1063-1071 | SequenceVariant | denotes | c.798C>T |
| T6 | 1076-1083 | SequenceVariant | denotes | c.94C>T |
| T7 | 1085-1091 | SequenceVariant | denotes | p.R32W |
| T8 | 1211-1216 | SequenceVariant | denotes | 3170G |
| T9 | 1244-1252 | SequenceVariant | denotes | c.35delG |
LitCoin-GeneOrGeneProduct-v0
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 12-24 | GeneOrGeneProduct | denotes | of mutations |
| T2 | 38-46 | GeneOrGeneProduct | denotes | connexin |
| T3 | 76-85 | GeneOrGeneProduct | denotes | Mutations |
| T4 | 93-97 | GeneOrGeneProduct | denotes | GJB2 |
| T5 | 253-261 | GeneOrGeneProduct | denotes | connexin |
| T6 | 262-269 | GeneOrGeneProduct | denotes | protein |
| T7 | 326-335 | GeneOrGeneProduct | denotes | Mutations |
| T8 | 349-357 | GeneOrGeneProduct | denotes | connexin |
| T9 | 461-465 | GeneOrGeneProduct | denotes | GJB2 |
| T10 | 485-493 | GeneOrGeneProduct | denotes | mutation |
| T11 | 516-520 | GeneOrGeneProduct | denotes | GJB2 |
| T12 | 591-599 | GeneOrGeneProduct | denotes | connexin |
| T13 | 607-611 | GeneOrGeneProduct | denotes | GJB6 |
| T14 | 616-620 | GeneOrGeneProduct | denotes | GJB3 |
| T15 | 657-661 | GeneOrGeneProduct | denotes | GJB2 |
| T16 | 676-682 | GeneOrGeneProduct | denotes | splice |
| T17 | 697-700 | GeneOrGeneProduct | denotes | out |
| T18 | 707-711 | GeneOrGeneProduct | denotes | GJB2 |
| T19 | 755-761 | GeneOrGeneProduct | denotes | splice |
| T20 | 767-775 | GeneOrGeneProduct | denotes | mutation |
| T21 | 792-797 | GeneOrGeneProduct | denotes | 5'UTR |
| T22 | 808-812 | GeneOrGeneProduct | denotes | GJB2 |
| T23 | 818-821 | GeneOrGeneProduct | denotes | out |
| T24 | 920-924 | GeneOrGeneProduct | denotes | GJB2 |
| T25 | 925-934 | GeneOrGeneProduct | denotes | mutations |
| T26 | 946-951 | GeneOrGeneProduct | denotes | cases |
| T27 | 967-971 | GeneOrGeneProduct | denotes | GJB6 |
| T28 | 973-978 | GeneOrGeneProduct | denotes | Delta |
| T29 | 979-983 | GeneOrGeneProduct | denotes | GJB6 |
| T30 | 995-1000 | GeneOrGeneProduct | denotes | and 3 |
| T31 | 1008-1013 | GeneOrGeneProduct | denotes | and 1 |
| T32 | 1025-1029 | GeneOrGeneProduct | denotes | base |
| T33 | 1047-1051 | GeneOrGeneProduct | denotes | GJB3 |
| T34 | 1219-1227 | GeneOrGeneProduct | denotes | mutation |
LitCoin-GeneOrGeneProduct-v2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 38-46 | GeneOrGeneProduct | denotes | connexin |
| T2 | 93-97 | GeneOrGeneProduct | denotes | GJB2 |
| T3 | 253-261 | GeneOrGeneProduct | denotes | connexin |
| T4 | 262-269 | GeneOrGeneProduct | denotes | protein |
| T5 | 349-357 | GeneOrGeneProduct | denotes | connexin |
| T6 | 461-465 | GeneOrGeneProduct | denotes | GJB2 |
| T7 | 516-520 | GeneOrGeneProduct | denotes | GJB2 |
| T8 | 591-599 | GeneOrGeneProduct | denotes | connexin |
| T9 | 607-611 | GeneOrGeneProduct | denotes | GJB6 |
| T10 | 616-620 | GeneOrGeneProduct | denotes | GJB3 |
| T11 | 657-661 | GeneOrGeneProduct | denotes | GJB2 |
| T12 | 707-711 | GeneOrGeneProduct | denotes | GJB2 |
| T13 | 792-797 | GeneOrGeneProduct | denotes | 5'UTR |
| T14 | 808-812 | GeneOrGeneProduct | denotes | GJB2 |
| T15 | 920-924 | GeneOrGeneProduct | denotes | GJB2 |
| T16 | 967-971 | GeneOrGeneProduct | denotes | GJB6 |
| T17 | 973-978 | GeneOrGeneProduct | denotes | Delta |
| T18 | 979-983 | GeneOrGeneProduct | denotes | GJB6 |
| T19 | 1008-1013 | GeneOrGeneProduct | denotes | and 1 |
| T20 | 1047-1051 | GeneOrGeneProduct | denotes | GJB3 |
LitCoin-Disease-MeSH
| Id | Subject | Object | Predicate | Lexical cue | originalLabel |
|---|---|---|---|---|---|
| T1 | 168-186 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | D034381 |
| T2 | 405-423 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | D034381 |
| T3 | 541-559 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | D034381 |
| T4 | 1113-1120 | DiseaseOrPhenotypicFeature | denotes | disease | D004194 |
| T5 | 1271-1289 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | D034381 |
LitCoin-GeneOrGeneProduct-v3
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 93-97 | GeneOrGeneProduct | denotes | GJB2 |
| T2 | 461-465 | GeneOrGeneProduct | denotes | GJB2 |
| T3 | 516-520 | GeneOrGeneProduct | denotes | GJB2 |
| T4 | 607-611 | GeneOrGeneProduct | denotes | GJB6 |
| T5 | 616-620 | GeneOrGeneProduct | denotes | GJB3 |
| T6 | 657-661 | GeneOrGeneProduct | denotes | GJB2 |
| T7 | 707-711 | GeneOrGeneProduct | denotes | GJB2 |
| T8 | 808-812 | GeneOrGeneProduct | denotes | GJB2 |
| T9 | 920-924 | GeneOrGeneProduct | denotes | GJB2 |
| T10 | 967-971 | GeneOrGeneProduct | denotes | GJB6 |
| T11 | 979-983 | GeneOrGeneProduct | denotes | GJB6 |
| T12 | 1047-1051 | GeneOrGeneProduct | denotes | GJB3 |
LitCoin_Mondo_095
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 168-186 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | 0005365 |
| T2 | 405-423 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | 0005365 |
| T3 | 541-559 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | 0005365 |
| T4 | 1271-1289 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | 0005365 |
LitCoin-MeSH-Disease-2
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T1 | 168-186 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | D034381 |
| T2 | 405-423 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | D034381 |
| T3 | 541-559 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | D034381 |
| T4 | 1113-1120 | DiseaseOrPhenotypicFeature | denotes | disease | D004194 |
| T5 | 1271-1289 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | D034381 |
LitCoin-MONDO_bioort2019
| Id | Subject | Object | Predicate | Lexical cue | #label |
|---|---|---|---|---|---|
| T1 | 168-186 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | D034381 |
| T2 | 405-423 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | D034381 |
| T3 | 541-559 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | D034381 |
| T4 | 1271-1289 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | D034381 |
LitCoin-NCBITaxon-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 66-74 | OrganismTaxon | denotes | patients |
| T2 | 527-535 | OrganismTaxon | denotes | patients |
| T3 | 725-733 | OrganismTaxon | denotes | patients |
| T4 | 834-842 | OrganismTaxon | denotes | patients |
| T5 | 973-978 | OrganismTaxon | denotes | Delta |
| T6 | 1257-1265 | OrganismTaxon | denotes | patients |
LitCoin-Chemical-MeSH-CHEBI
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T1 | 397-401 | ChemicalEntity | denotes | lead | D007854 |
LitCoin-training-merged
| Id | Subject | Object | Predicate | Lexical cue | #label | ID: |
|---|---|---|---|---|---|---|
| T1 | 397-401 | ChemicalEntity | denotes | lead | D007854 | |
| T12 | 1047-1051 | GeneOrGeneProduct | denotes | GJB3 | ||
| T11 | 979-983 | GeneOrGeneProduct | denotes | GJB6 | ||
| T10 | 967-971 | GeneOrGeneProduct | denotes | GJB6 | ||
| T9 | 920-924 | GeneOrGeneProduct | denotes | GJB2 | ||
| T8 | 808-812 | GeneOrGeneProduct | denotes | GJB2 | ||
| T7 | 707-711 | GeneOrGeneProduct | denotes | GJB2 | ||
| T6 | 657-661 | GeneOrGeneProduct | denotes | GJB2 | ||
| T5 | 616-620 | GeneOrGeneProduct | denotes | GJB3 | ||
| T4 | 607-611 | GeneOrGeneProduct | denotes | GJB6 | ||
| T3 | 516-520 | GeneOrGeneProduct | denotes | GJB2 | ||
| T2 | 461-465 | GeneOrGeneProduct | denotes | GJB2 | ||
| T40280 | 93-97 | GeneOrGeneProduct | denotes | GJB2 | ||
| T62704 | 1271-1289 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | D034381 | |
| T4513 | 541-559 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | D034381 | |
| T52833 | 405-423 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | D034381 | |
| T9504 | 168-186 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | D034381 | |
| T2003 | 1257-1265 | OrganismTaxon | denotes | patients | ||
| T55879 | 973-978 | OrganismTaxon | denotes | Delta | ||
| T10331 | 834-842 | OrganismTaxon | denotes | patients | ||
| T31141 | 725-733 | OrganismTaxon | denotes | patients | ||
| T17926 | 527-535 | OrganismTaxon | denotes | patients | ||
| T15684 | 66-74 | OrganismTaxon | denotes | patients | ||
| T39715 | 1244-1252 | SequenceVariant | denotes | c.35delG | ||
| T11830 | 1211-1216 | SequenceVariant | denotes | 3170G | ||
| T71763 | 1085-1091 | SequenceVariant | denotes | p.R32W | ||
| T73480 | 1076-1083 | SequenceVariant | denotes | c.94C>T | ||
| T5202 | 1063-1071 | SequenceVariant | denotes | c.798C>T | ||
| T52228 | 1053-1061 | SequenceVariant | denotes | c.357C>T | ||
| T52800 | 899-906 | SequenceVariant | denotes | p.R127H | ||
| T9327 | 862-867 | SequenceVariant | denotes | 3170G | ||
| T28308 | 777-782 | SequenceVariant | denotes | 3170G |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 143-186 | HP_0000399 | denotes | prelingual sensorineural hearing impairment |
| T2 | 154-186 | HP_0000407 | denotes | sensorineural hearing impairment |
| T3 | 168-186 | HP_0000365 | denotes | hearing impairment |
| T4 | 541-559 | HP_0000365 | denotes | hearing impairment |
| T5 | 1271-1289 | HP_0000365 | denotes | hearing impairment |
tmVarCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 776-784 | DNAMutation:c|SUB|G|-3170|A | denotes | -3170G>A |
| T2 | 861-869 | DNAMutation:c|SUB|G|-3170|A | denotes | -3170G>A |
| T3 | 899-906 | ProteinMutation:p|SUB|R|127|H | denotes | p.R127H |
| T4 | 1053-1061 | DNAMutation:c|SUB|C|357|T | denotes | c.357C>T |
| T5 | 1063-1071 | DNAMutation:c|SUB|C|798|T | denotes | c.798C>T |
| T6 | 1076-1083 | DNAMutation:c|SUB|C|94|T | denotes | c.94C>T |
| T7 | 1085-1091 | ProteinMutation:p|SUB|R|32|W | denotes | p.R32W |
| T8 | 1210-1218 | DNAMutation:c|SUB|G|-3170|A | denotes | -3170G>A |
| T9 | 1244-1252 | DNAMutation:c|DEL|35|G | denotes | c.35delG |
biored-valid-deepseek-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-11 | DiseaseOrPhenotypicFeature | denotes | Coincidence |
| T2 | 15-24 | SequenceVariant | denotes | mutations |
| T3 | 47-52 | GeneOrGeneProduct | denotes | genes |
| T4 | 56-65 | OrganismTaxon | denotes | Hungarian |
| T5 | 66-74 | OrganismTaxon | denotes | patients |
| T6 | 76-85 | SequenceVariant | denotes | Mutations |
| T7 | 93-97 | GeneOrGeneProduct | denotes | GJB2 |
| T8 | 132-142 | DiseaseOrPhenotypicFeature | denotes | hereditary |
| T9 | 143-153 | DiseaseOrPhenotypicFeature | denotes | prelingual |
| T10 | 154-175 | DiseaseOrPhenotypicFeature | denotes | sensorineural hearing |
| T11 | 176-186 | DiseaseOrPhenotypicFeature | denotes | impairment |
| T12 | 190-196 | OrganismTaxon | denotes | Europe |
| T13 | 253-261 | GeneOrGeneProduct | denotes | connexin |
| T14 | 262-269 | GeneOrGeneProduct | denotes | protein |
| T15 | 270-276 | GeneOrGeneProduct | denotes | family |
| T16 | 326-335 | SequenceVariant | denotes | Mutations |
| T17 | 349-357 | GeneOrGeneProduct | denotes | connexin |
| T18 | 358-363 | GeneOrGeneProduct | denotes | genes |
| T19 | 413-423 | DiseaseOrPhenotypicFeature | denotes | impairment |
| T20 | 451-460 | OrganismTaxon | denotes | Hungarian |
| T21 | 461-465 | GeneOrGeneProduct | denotes | GJB2 |
| T22 | 467-479 | DiseaseOrPhenotypicFeature | denotes | heterozygous |
| T23 | 485-493 | SequenceVariant | denotes | mutation |
| T24 | 516-520 | GeneOrGeneProduct | denotes | GJB2 |
| T25 | 527-535 | OrganismTaxon | denotes | patients |
| T26 | 549-559 | DiseaseOrPhenotypicFeature | denotes | impairment |
| T27 | 607-611 | GeneOrGeneProduct | denotes | GJB6 |
| T28 | 616-620 | GeneOrGeneProduct | denotes | GJB3 |
| T29 | 657-661 | GeneOrGeneProduct | denotes | GJB2 |
| T30 | 767-775 | SequenceVariant | denotes | mutation |
| T31 | 776-784 | SequenceVariant | denotes | -3170G>A |
| T32 | 834-842 | OrganismTaxon | denotes | patients |
| T33 | 850-860 | DiseaseOrPhenotypicFeature | denotes | homozygous |
| T34 | 870-878 | DiseaseOrPhenotypicFeature | denotes | genotype |
| T35 | 899-906 | SequenceVariant | denotes | p.R127H |
| T36 | 925-934 | SequenceVariant | denotes | mutations |
| T37 | 955-963 | SequenceVariant | denotes | deletion |
| T38 | 973-993 | SequenceVariant | denotes | Delta(GJB6-D13S1830) |
| T39 | 1053-1061 | SequenceVariant | denotes | c.357C>T |
| T40 | 1063-1071 | SequenceVariant | denotes | c.798C>T |
| T41 | 1076-1083 | SequenceVariant | denotes | c.94C>T |
| T42 | 1085-1091 | SequenceVariant | denotes | p.R32W |
| T43 | 1113-1120 | DiseaseOrPhenotypicFeature | denotes | disease |
| T44 | 1121-1128 | DiseaseOrPhenotypicFeature | denotes | causing |
| T45 | 1244-1252 | SequenceVariant | denotes | c.35delG |
biored-valid
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 66-74 | OrganismTaxon | denotes | patients |
| T2 | 93-97 | GeneOrGeneProduct | denotes | GJB2 |
| T3 | 154-186 | DiseaseOrPhenotypicFeature | denotes | sensorineural hearing impairment |
| T4 | 405-423 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T5 | 461-465 | GeneOrGeneProduct | denotes | GJB2 |
| T6 | 516-520 | GeneOrGeneProduct | denotes | GJB2 |
| T7 | 527-535 | OrganismTaxon | denotes | patients |
| T8 | 541-559 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T9 | 607-611 | GeneOrGeneProduct | denotes | GJB6 |
| T10 | 616-620 | GeneOrGeneProduct | denotes | GJB3 |
| T11 | 657-661 | GeneOrGeneProduct | denotes | GJB2 |
| T12 | 707-711 | GeneOrGeneProduct | denotes | GJB2 |
| T13 | 725-733 | OrganismTaxon | denotes | patients |
| T14 | 776-784 | SequenceVariant | denotes | -3170G>A |
| T15 | 808-812 | GeneOrGeneProduct | denotes | GJB2 |
| T16 | 834-842 | OrganismTaxon | denotes | patients |
| T17 | 861-869 | SequenceVariant | denotes | -3170G>A |
| T18 | 899-906 | SequenceVariant | denotes | p.R127H |
| T19 | 920-924 | GeneOrGeneProduct | denotes | GJB2 |
| T20 | 967-971 | GeneOrGeneProduct | denotes | GJB6 |
| T21 | 979-983 | GeneOrGeneProduct | denotes | GJB6 |
| T22 | 1047-1051 | GeneOrGeneProduct | denotes | GJB3 |
| T23 | 1053-1061 | SequenceVariant | denotes | c.357C>T |
| T24 | 1063-1071 | SequenceVariant | denotes | c.798C>T |
| T25 | 1076-1083 | SequenceVariant | denotes | c.94C>T |
| T26 | 1085-1091 | SequenceVariant | denotes | p.R32W |
| T27 | 1210-1218 | SequenceVariant | denotes | -3170G>A |
| T28 | 1244-1252 | SequenceVariant | denotes | c.35delG |
| T29 | 1257-1265 | OrganismTaxon | denotes | patients |
| T30 | 1271-1289 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
biored-valid-deepseek-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 38-46 | GeneOrGeneProduct | denotes | connexin |
| T2 | 47-51 | GeneOrGeneProduct | denotes | gene |
| T3 | 56-65 | OrganismTaxon | denotes | Hungarian |
| T4 | 66-74 | DiseaseOrPhenotypicFeature | denotes | patients |
| T5 | 93-97 | GeneOrGeneProduct | denotes | GJB2 |
| T6 | 132-186 | DiseaseOrPhenotypicFeature | denotes | hereditary prelingual sensorineural hearing impairment |
| T7 | 190-196 | OrganismTaxon | denotes | Europe |
| T8 | 253-261 | GeneOrGeneProduct | denotes | connexin |
| T9 | 262-269 | GeneOrGeneProduct | denotes | protein |
| T10 | 270-276 | GeneOrGeneProduct | denotes | family |
| T11 | 315-324 | DiseaseOrPhenotypicFeature | denotes | inner ear |
| T12 | 358-363 | GeneOrGeneProduct | denotes | genes |
| T13 | 405-423 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T14 | 448-450 | OrganismTaxon | denotes | 47 |
| T15 | 451-460 | OrganismTaxon | denotes | Hungarian |
| T16 | 461-465 | GeneOrGeneProduct | denotes | GJB2 |
| T17 | 467-479 | DiseaseOrPhenotypicFeature | denotes | heterozygous |
| T18 | 516-520 | GeneOrGeneProduct | denotes | GJB2 |
| T19 | 527-535 | DiseaseOrPhenotypicFeature | denotes | patients |
| T20 | 541-559 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T21 | 607-611 | GeneOrGeneProduct | denotes | GJB6 |
| T22 | 616-620 | GeneOrGeneProduct | denotes | GJB3 |
| T23 | 657-661 | GeneOrGeneProduct | denotes | GJB2 |
| T24 | 776-784 | SequenceVariant | denotes | -3170G>A |
| T25 | 925-934 | SequenceVariant | denotes | mutations |
| T26 | 1053-1061 | SequenceVariant | denotes | c.357C>T |
| T27 | 1063-1071 | SequenceVariant | denotes | c.798C>T |
| T28 | 1076-1083 | SequenceVariant | denotes | c.94C>T |
| T29 | 1085-1091 | SequenceVariant | denotes | p.R32W |
| T30 | 1113-1120 | DiseaseOrPhenotypicFeature | denotes | disease |
| T31 | 1244-1252 | SequenceVariant | denotes | c.35delG |
biored-valid-deepseek-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 38-46 | GeneOrGeneProduct | denotes | connexin |
| T2 | 93-97 | GeneOrGeneProduct | denotes | GJB2 |
| T3 | 132-186 | DiseaseOrPhenotypicFeature | denotes | hereditary prelingual sensorineural hearing impairment |
| T4 | 607-611 | GeneOrGeneProduct | denotes | GJB6 |
| T5 | 616-620 | GeneOrGeneProduct | denotes | GJB3 |
| T6 | 776-784 | SequenceVariant | denotes | -3170G>A |
| T7 | 899-906 | SequenceVariant | denotes | p.R127H |
| T8 | 973-993 | SequenceVariant | denotes | Delta(GJB6-D13S1830) |
| T9 | 1053-1061 | SequenceVariant | denotes | c.357C>T |
| T10 | 1063-1071 | SequenceVariant | denotes | c.798C>T |
| T11 | 1076-1083 | SequenceVariant | denotes | c.94C>T |
| T12 | 1085-1091 | SequenceVariant | denotes | p.R32W |
| T13 | 1244-1252 | SequenceVariant | denotes | c.35delG |
biored-valid-deepseek-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 38-52 | GeneOrGeneProduct | denotes | connexin genes |
| T2 | 93-97 | GeneOrGeneProduct | denotes | GJB2 |
| T3 | 132-186 | DiseaseOrPhenotypicFeature | denotes | hereditary prelingual sensorineural hearing impairment |
| T4 | 253-276 | GeneOrGeneProduct | denotes | connexin protein family |
| T5 | 349-363 | GeneOrGeneProduct | denotes | connexin genes |
| T6 | 405-423 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T7 | 461-465 | GeneOrGeneProduct | denotes | GJB2 |
| T8 | 516-520 | GeneOrGeneProduct | denotes | GJB2 |
| T9 | 541-559 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T10 | 607-611 | GeneOrGeneProduct | denotes | GJB6 |
| T11 | 616-620 | GeneOrGeneProduct | denotes | GJB3 |
| T12 | 776-784 | SequenceVariant | denotes | -3170G>A |
| T13 | 899-906 | SequenceVariant | denotes | p.R127H |
| T14 | 973-993 | SequenceVariant | denotes | Delta(GJB6-D13S1830) |
| T15 | 1053-1061 | SequenceVariant | denotes | c.357C>T |
| T16 | 1063-1071 | SequenceVariant | denotes | c.798C>T |
| T17 | 1076-1083 | SequenceVariant | denotes | c.94C>T |
| T18 | 1085-1091 | SequenceVariant | denotes | p.R32W |
| T19 | 1244-1252 | SequenceVariant | denotes | c.35delG |
biored-valid-gemini-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 38-52 | GeneOrGeneProduct | denotes | connexin genes |
| T2 | 76-85 | SequenceVariant | denotes | Mutations |
| T3 | 93-102 | GeneOrGeneProduct | denotes | GJB2 gene |
| T4 | 132-186 | DiseaseOrPhenotypicFeature | denotes | hereditary prelingual sensorineural hearing impairment |
| T5 | 253-269 | GeneOrGeneProduct | denotes | connexin protein |
| T6 | 326-335 | SequenceVariant | denotes | Mutations |
| T7 | 349-363 | GeneOrGeneProduct | denotes | connexin genes |
| T8 | 405-423 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T9 | 461-465 | GeneOrGeneProduct | denotes | GJB2 |
| T10 | 481-493 | SequenceVariant | denotes | one mutation |
| T11 | 516-525 | GeneOrGeneProduct | denotes | GJB2 gene |
| T12 | 541-559 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T13 | 564-575 | SequenceVariant | denotes | DNA changes |
| T14 | 591-605 | GeneOrGeneProduct | denotes | connexin genes |
| T15 | 607-611 | GeneOrGeneProduct | denotes | GJB6 |
| T16 | 616-620 | GeneOrGeneProduct | denotes | GJB3 |
| T17 | 657-661 | GeneOrGeneProduct | denotes | GJB2 |
| T18 | 707-711 | GeneOrGeneProduct | denotes | GJB2 |
| T19 | 755-775 | SequenceVariant | denotes | splice site mutation |
| T20 | 776-784 | SequenceVariant | denotes | -3170G>A |
| T21 | 899-906 | SequenceVariant | denotes | p.R127H |
| T22 | 920-934 | SequenceVariant | denotes | GJB2 mutations |
| T23 | 955-963 | SequenceVariant | denotes | deletion |
| T24 | 967-971 | GeneOrGeneProduct | denotes | GJB6 |
| T25 | 973-993 | SequenceVariant | denotes | Delta(GJB6-D13S1830) |
| T26 | 1025-1043 | SequenceVariant | denotes | base substitutions |
| T27 | 1047-1051 | GeneOrGeneProduct | denotes | GJB3 |
| T28 | 1053-1061 | SequenceVariant | denotes | c.357C>T |
| T29 | 1063-1071 | SequenceVariant | denotes | c.798C>T |
| T30 | 1076-1083 | SequenceVariant | denotes | c.94C>T |
| T31 | 1085-1091 | SequenceVariant | denotes | p.R32W |
| T32 | 1210-1218 | SequenceVariant | denotes | -3170G>A |
| T33 | 1219-1227 | SequenceVariant | denotes | mutation |
| T34 | 1244-1252 | SequenceVariant | denotes | c.35delG |
| T35 | 1271-1289 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
biored-valid-gemini-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 38-46 | GeneOrGeneProduct | denotes | connexin |
| T2 | 66-74 | OrganismTaxon | denotes | patients |
| T3 | 93-97 | GeneOrGeneProduct | denotes | GJB2 |
| T4 | 132-186 | DiseaseOrPhenotypicFeature | denotes | hereditary prelingual sensorineural hearing impairment |
| T5 | 253-269 | GeneOrGeneProduct | denotes | connexin protein |
| T6 | 349-357 | GeneOrGeneProduct | denotes | connexin |
| T7 | 405-423 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T8 | 461-465 | GeneOrGeneProduct | denotes | GJB2 |
| T9 | 527-535 | OrganismTaxon | denotes | patients |
| T10 | 541-559 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T11 | 564-567 | ChemicalEntity | denotes | DNA |
| T12 | 591-599 | GeneOrGeneProduct | denotes | connexin |
| T13 | 607-611 | GeneOrGeneProduct | denotes | GJB6 |
| T14 | 616-620 | GeneOrGeneProduct | denotes | GJB3 |
| T15 | 657-661 | GeneOrGeneProduct | denotes | GJB2 |
| T16 | 725-733 | OrganismTaxon | denotes | patients |
| T17 | 776-784 | SequenceVariant | denotes | -3170G>A |
| T18 | 808-812 | GeneOrGeneProduct | denotes | GJB2 |
| T19 | 834-842 | OrganismTaxon | denotes | patients |
| T20 | 899-906 | SequenceVariant | denotes | p.R127H |
| T21 | 920-924 | GeneOrGeneProduct | denotes | GJB2 |
| T22 | 967-971 | GeneOrGeneProduct | denotes | GJB6 |
| T23 | 973-993 | SequenceVariant | denotes | Delta(GJB6-D13S1830) |
| T24 | 1047-1051 | GeneOrGeneProduct | denotes | GJB3 |
| T25 | 1053-1061 | SequenceVariant | denotes | c.357C>T |
| T26 | 1063-1071 | SequenceVariant | denotes | c.798C>T |
| T27 | 1076-1083 | SequenceVariant | denotes | c.94C>T |
| T28 | 1085-1091 | SequenceVariant | denotes | p.R32W |
| T29 | 1210-1218 | SequenceVariant | denotes | -3170G>A |
| T30 | 1244-1252 | SequenceVariant | denotes | c.35delG |
| T31 | 1257-1265 | OrganismTaxon | denotes | patients |
| T32 | 1271-1289 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
biored-valid-gemini-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 38-52 | GeneOrGeneProduct | denotes | connexin genes |
| T2 | 93-97 | GeneOrGeneProduct | denotes | GJB2 |
| T3 | 132-186 | DiseaseOrPhenotypicFeature | denotes | hereditary prelingual sensorineural hearing impairment |
| T4 | 253-261 | GeneOrGeneProduct | denotes | connexin |
| T5 | 349-363 | GeneOrGeneProduct | denotes | connexin genes |
| T6 | 405-423 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T7 | 461-465 | GeneOrGeneProduct | denotes | GJB2 |
| T8 | 541-559 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T9 | 591-605 | GeneOrGeneProduct | denotes | connexin genes |
| T10 | 607-611 | GeneOrGeneProduct | denotes | GJB6 |
| T11 | 616-620 | GeneOrGeneProduct | denotes | GJB3 |
| T12 | 657-661 | GeneOrGeneProduct | denotes | GJB2 |
| T13 | 707-711 | GeneOrGeneProduct | denotes | GJB2 |
| T14 | 776-784 | SequenceVariant | denotes | -3170G>A |
| T15 | 808-812 | GeneOrGeneProduct | denotes | GJB2 |
| T16 | 899-906 | SequenceVariant | denotes | p.R127H |
| T17 | 967-971 | GeneOrGeneProduct | denotes | GJB6 |
| T18 | 973-993 | SequenceVariant | denotes | Delta(GJB6-D13S1830) |
| T19 | 1047-1051 | GeneOrGeneProduct | denotes | GJB3 |
| T20 | 1053-1061 | SequenceVariant | denotes | c.357C>T |
| T21 | 1063-1071 | SequenceVariant | denotes | c.798C>T |
| T22 | 1076-1083 | SequenceVariant | denotes | c.94C>T |
| T23 | 1085-1091 | SequenceVariant | denotes | p.R32W |
| T24 | 1210-1218 | SequenceVariant | denotes | -3170G>A |
| T25 | 1244-1252 | SequenceVariant | denotes | c.35delG |
| T26 | 1271-1289 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
biored-valid-gpt-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 38-46 | GeneOrGeneProduct | denotes | connexin |
| T2 | 93-97 | GeneOrGeneProduct | denotes | GJB2 |
| T3 | 132-186 | DiseaseOrPhenotypicFeature | denotes | hereditary prelingual sensorineural hearing impairment |
| T4 | 253-261 | GeneOrGeneProduct | denotes | connexin |
| T5 | 349-357 | GeneOrGeneProduct | denotes | connexin |
| T6 | 405-423 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T7 | 516-520 | GeneOrGeneProduct | denotes | GJB2 |
| T8 | 541-559 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T9 | 564-567 | ChemicalEntity | denotes | DNA |
| T10 | 591-599 | GeneOrGeneProduct | denotes | connexin |
| T11 | 607-611 | GeneOrGeneProduct | denotes | GJB6 |
| T12 | 616-620 | GeneOrGeneProduct | denotes | GJB3 |
| T13 | 657-661 | GeneOrGeneProduct | denotes | GJB2 |
| T14 | 707-711 | GeneOrGeneProduct | denotes | GJB2 |
| T15 | 776-784 | SequenceVariant | denotes | -3170G>A |
| T16 | 808-812 | GeneOrGeneProduct | denotes | GJB2 |
| T17 | 861-869 | SequenceVariant | denotes | -3170G>A |
| T18 | 899-906 | SequenceVariant | denotes | p.R127H |
| T19 | 920-924 | GeneOrGeneProduct | denotes | GJB2 |
| T20 | 967-971 | GeneOrGeneProduct | denotes | GJB6 |
| T21 | 973-993 | SequenceVariant | denotes | Delta(GJB6-D13S1830) |
| T22 | 1047-1051 | GeneOrGeneProduct | denotes | GJB3 |
| T23 | 1053-1061 | SequenceVariant | denotes | c.357C>T |
| T24 | 1063-1071 | SequenceVariant | denotes | c.798C>T |
| T25 | 1076-1083 | SequenceVariant | denotes | c.94C>T |
| T26 | 1085-1091 | SequenceVariant | denotes | p.R32W |
| T27 | 1210-1218 | SequenceVariant | denotes | -3170G>A |
| T28 | 1244-1252 | SequenceVariant | denotes | c.35delG |
| T29 | 1271-1289 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
biored-valid-gpt-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 38-52 | GeneOrGeneProduct | denotes | connexin genes |
| T2 | 93-102 | GeneOrGeneProduct | denotes | GJB2 gene |
| T3 | 132-186 | DiseaseOrPhenotypicFeature | denotes | hereditary prelingual sensorineural hearing impairment |
| T4 | 253-276 | GeneOrGeneProduct | denotes | connexin protein family |
| T5 | 349-363 | GeneOrGeneProduct | denotes | connexin genes |
| T6 | 405-423 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T7 | 516-525 | GeneOrGeneProduct | denotes | GJB2 gene |
| T8 | 541-559 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T9 | 564-567 | ChemicalEntity | denotes | DNA |
| T10 | 591-605 | GeneOrGeneProduct | denotes | connexin genes |
| T11 | 607-611 | GeneOrGeneProduct | denotes | GJB6 |
| T12 | 616-620 | GeneOrGeneProduct | denotes | GJB3 |
| T13 | 657-661 | GeneOrGeneProduct | denotes | GJB2 |
| T14 | 776-784 | SequenceVariant | denotes | -3170G>A |
| T15 | 808-812 | GeneOrGeneProduct | denotes | GJB2 |
| T16 | 861-869 | SequenceVariant | denotes | -3170G>A |
| T17 | 899-906 | SequenceVariant | denotes | p.R127H |
| T18 | 920-924 | GeneOrGeneProduct | denotes | GJB2 |
| T19 | 967-971 | GeneOrGeneProduct | denotes | GJB6 |
| T20 | 973-993 | SequenceVariant | denotes | Delta(GJB6-D13S1830) |
| T21 | 1047-1051 | GeneOrGeneProduct | denotes | GJB3 |
| T22 | 1053-1061 | SequenceVariant | denotes | c.357C>T |
| T23 | 1063-1071 | SequenceVariant | denotes | c.798C>T |
| T24 | 1076-1083 | SequenceVariant | denotes | c.94C>T |
| T25 | 1085-1091 | SequenceVariant | denotes | p.R32W |
| T26 | 1210-1218 | SequenceVariant | denotes | -3170G>A |
| T27 | 1244-1252 | SequenceVariant | denotes | c.35delG |
| T28 | 1271-1289 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
biored-valid-gpt-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 38-52 | GeneOrGeneProduct | denotes | connexin genes |
| T2 | 93-97 | GeneOrGeneProduct | denotes | GJB2 |
| T3 | 132-186 | DiseaseOrPhenotypicFeature | denotes | hereditary prelingual sensorineural hearing impairment |
| T4 | 253-276 | GeneOrGeneProduct | denotes | connexin protein family |
| T5 | 349-363 | GeneOrGeneProduct | denotes | connexin genes |
| T6 | 405-423 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T7 | 461-465 | GeneOrGeneProduct | denotes | GJB2 |
| T8 | 516-520 | GeneOrGeneProduct | denotes | GJB2 |
| T9 | 541-559 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T10 | 591-605 | GeneOrGeneProduct | denotes | connexin genes |
| T11 | 607-611 | GeneOrGeneProduct | denotes | GJB6 |
| T12 | 616-620 | GeneOrGeneProduct | denotes | GJB3 |
| T13 | 657-661 | GeneOrGeneProduct | denotes | GJB2 |
| T14 | 707-711 | GeneOrGeneProduct | denotes | GJB2 |
| T15 | 776-784 | SequenceVariant | denotes | -3170G>A |
| T16 | 808-812 | GeneOrGeneProduct | denotes | GJB2 |
| T17 | 861-869 | SequenceVariant | denotes | -3170G>A |
| T18 | 899-906 | SequenceVariant | denotes | p.R127H |
| T19 | 920-924 | GeneOrGeneProduct | denotes | GJB2 |
| T20 | 967-971 | GeneOrGeneProduct | denotes | GJB6 |
| T21 | 973-993 | SequenceVariant | denotes | Delta(GJB6-D13S1830) |
| T22 | 1047-1051 | GeneOrGeneProduct | denotes | GJB3 |
| T23 | 1053-1061 | SequenceVariant | denotes | c.357C>T |
| T24 | 1063-1071 | SequenceVariant | denotes | c.798C>T |
| T25 | 1076-1083 | SequenceVariant | denotes | c.94C>T |
| T26 | 1085-1091 | SequenceVariant | denotes | p.R32W |
| T27 | 1210-1218 | SequenceVariant | denotes | -3170G>A |
| T28 | 1244-1252 | SequenceVariant | denotes | c.35delG |
| T29 | 1271-1289 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
biored-valid-gpt-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 38-52 | GeneOrGeneProduct | denotes | connexin genes |
| T2 | 93-97 | GeneOrGeneProduct | denotes | GJB2 |
| T3 | 132-186 | DiseaseOrPhenotypicFeature | denotes | hereditary prelingual sensorineural hearing impairment |
| T4 | 253-276 | GeneOrGeneProduct | denotes | connexin protein family |
| T5 | 349-363 | GeneOrGeneProduct | denotes | connexin genes |
| T6 | 405-423 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T7 | 461-465 | GeneOrGeneProduct | denotes | GJB2 |
| T8 | 516-520 | GeneOrGeneProduct | denotes | GJB2 |
| T9 | 541-559 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T10 | 564-567 | ChemicalEntity | denotes | DNA |
| T11 | 591-605 | GeneOrGeneProduct | denotes | connexin genes |
| T12 | 607-611 | GeneOrGeneProduct | denotes | GJB6 |
| T13 | 616-620 | GeneOrGeneProduct | denotes | GJB3 |
| T14 | 657-661 | GeneOrGeneProduct | denotes | GJB2 |
| T15 | 707-711 | GeneOrGeneProduct | denotes | GJB2 |
| T16 | 776-784 | SequenceVariant | denotes | -3170G>A |
| T17 | 808-812 | GeneOrGeneProduct | denotes | GJB2 |
| T18 | 861-869 | SequenceVariant | denotes | -3170G>A |
| T19 | 899-906 | SequenceVariant | denotes | p.R127H |
| T20 | 920-924 | GeneOrGeneProduct | denotes | GJB2 |
| T21 | 967-971 | GeneOrGeneProduct | denotes | GJB6 |
| T22 | 973-993 | SequenceVariant | denotes | Delta(GJB6-D13S1830) |
| T23 | 1047-1051 | GeneOrGeneProduct | denotes | GJB3 |
| T24 | 1053-1061 | SequenceVariant | denotes | c.357C>T |
| T25 | 1063-1071 | SequenceVariant | denotes | c.798C>T |
| T26 | 1076-1083 | SequenceVariant | denotes | c.94C>T |
| T27 | 1085-1091 | SequenceVariant | denotes | p.R32W |
| T28 | 1210-1218 | SequenceVariant | denotes | -3170G>A |
| T29 | 1244-1252 | SequenceVariant | denotes | c.35delG |
| T30 | 1271-1289 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
biored-valid-gemini-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 38-52 | GeneOrGeneProduct | denotes | connexin genes |
| T2 | 93-97 | GeneOrGeneProduct | denotes | GJB2 |
| T3 | 143-186 | DiseaseOrPhenotypicFeature | denotes | prelingual sensorineural hearing impairment |
| T4 | 253-269 | GeneOrGeneProduct | denotes | connexin protein |
| T5 | 349-363 | GeneOrGeneProduct | denotes | connexin genes |
| T6 | 405-423 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T7 | 461-465 | GeneOrGeneProduct | denotes | GJB2 |
| T8 | 516-520 | GeneOrGeneProduct | denotes | GJB2 |
| T9 | 541-559 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T10 | 591-605 | GeneOrGeneProduct | denotes | connexin genes |
| T11 | 607-611 | GeneOrGeneProduct | denotes | GJB6 |
| T12 | 616-620 | GeneOrGeneProduct | denotes | GJB3 |
| T13 | 657-661 | GeneOrGeneProduct | denotes | GJB2 |
| T14 | 707-711 | GeneOrGeneProduct | denotes | GJB2 |
| T15 | 776-784 | SequenceVariant | denotes | -3170G>A |
| T16 | 808-812 | GeneOrGeneProduct | denotes | GJB2 |
| T17 | 899-906 | SequenceVariant | denotes | p.R127H |
| T18 | 967-971 | GeneOrGeneProduct | denotes | GJB6 |
| T19 | 973-993 | SequenceVariant | denotes | Delta(GJB6-D13S1830) |
| T20 | 1047-1051 | GeneOrGeneProduct | denotes | GJB3 |
| T21 | 1053-1061 | SequenceVariant | denotes | c.357C>T |
| T22 | 1063-1071 | SequenceVariant | denotes | c.798C>T |
| T23 | 1076-1083 | SequenceVariant | denotes | c.94C>T |
| T24 | 1085-1091 | SequenceVariant | denotes | p.R32W |
| T25 | 1210-1218 | SequenceVariant | denotes | -3170G>A |
| T26 | 1244-1252 | SequenceVariant | denotes | c.35delG |
| T27 | 1271-1289 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
biored-valid-gpt-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 38-46 | GeneOrGeneProduct | denotes | connexin |
| T2 | 66-74 | OrganismTaxon | denotes | patients |
| T3 | 93-97 | GeneOrGeneProduct | denotes | GJB2 |
| T4 | 132-186 | DiseaseOrPhenotypicFeature | denotes | hereditary prelingual sensorineural hearing impairment |
| T5 | 253-261 | GeneOrGeneProduct | denotes | connexin |
| T6 | 349-357 | GeneOrGeneProduct | denotes | connexin |
| T7 | 405-423 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T8 | 461-465 | GeneOrGeneProduct | denotes | GJB2 |
| T9 | 516-520 | GeneOrGeneProduct | denotes | GJB2 |
| T10 | 527-535 | OrganismTaxon | denotes | patients |
| T11 | 541-559 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T12 | 591-599 | GeneOrGeneProduct | denotes | connexin |
| T13 | 607-611 | GeneOrGeneProduct | denotes | GJB6 |
| T14 | 616-620 | GeneOrGeneProduct | denotes | GJB3 |
| T15 | 657-661 | GeneOrGeneProduct | denotes | GJB2 |
| T16 | 707-711 | GeneOrGeneProduct | denotes | GJB2 |
| T17 | 725-733 | OrganismTaxon | denotes | patients |
| T18 | 776-784 | SequenceVariant | denotes | -3170G>A |
| T19 | 808-812 | GeneOrGeneProduct | denotes | GJB2 |
| T20 | 834-842 | OrganismTaxon | denotes | patients |
| T21 | 861-869 | SequenceVariant | denotes | -3170G>A |
| T22 | 899-906 | SequenceVariant | denotes | p.R127H |
| T23 | 920-924 | GeneOrGeneProduct | denotes | GJB2 |
| T24 | 967-971 | GeneOrGeneProduct | denotes | GJB6 |
| T25 | 973-993 | SequenceVariant | denotes | Delta(GJB6-D13S1830) |
| T26 | 1047-1051 | GeneOrGeneProduct | denotes | GJB3 |
| T27 | 1053-1061 | SequenceVariant | denotes | c.357C>T |
| T28 | 1063-1071 | SequenceVariant | denotes | c.798C>T |
| T29 | 1076-1083 | SequenceVariant | denotes | c.94C>T |
| T30 | 1085-1091 | SequenceVariant | denotes | p.R32W |
| T31 | 1210-1218 | SequenceVariant | denotes | -3170G>A |
| T32 | 1244-1252 | SequenceVariant | denotes | c.35delG |
| T33 | 1257-1265 | OrganismTaxon | denotes | patients |
| T34 | 1271-1289 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
biored-valid-gemini-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 38-46 | GeneOrGeneProduct | denotes | connexin |
| T2 | 66-74 | OrganismTaxon | denotes | patients |
| T3 | 93-97 | GeneOrGeneProduct | denotes | GJB2 |
| T4 | 132-186 | DiseaseOrPhenotypicFeature | denotes | hereditary prelingual sensorineural hearing impairment |
| T5 | 253-261 | GeneOrGeneProduct | denotes | connexin |
| T6 | 349-357 | GeneOrGeneProduct | denotes | connexin |
| T7 | 405-423 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T8 | 461-465 | GeneOrGeneProduct | denotes | GJB2 |
| T9 | 516-520 | GeneOrGeneProduct | denotes | GJB2 |
| T10 | 527-535 | OrganismTaxon | denotes | patients |
| T11 | 541-559 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T12 | 591-599 | GeneOrGeneProduct | denotes | connexin |
| T13 | 607-611 | GeneOrGeneProduct | denotes | GJB6 |
| T14 | 616-620 | GeneOrGeneProduct | denotes | GJB3 |
| T15 | 657-661 | GeneOrGeneProduct | denotes | GJB2 |
| T16 | 725-733 | OrganismTaxon | denotes | patients |
| T17 | 776-784 | SequenceVariant | denotes | -3170G>A |
| T18 | 808-812 | GeneOrGeneProduct | denotes | GJB2 |
| T19 | 834-842 | OrganismTaxon | denotes | patients |
| T20 | 861-869 | SequenceVariant | denotes | -3170G>A |
| T21 | 899-906 | SequenceVariant | denotes | p.R127H |
| T22 | 920-924 | GeneOrGeneProduct | denotes | GJB2 |
| T23 | 967-971 | GeneOrGeneProduct | denotes | GJB6 |
| T24 | 973-993 | SequenceVariant | denotes | Delta(GJB6-D13S1830) |
| T25 | 1047-1051 | GeneOrGeneProduct | denotes | GJB3 |
| T26 | 1053-1061 | SequenceVariant | denotes | c.357C>T |
| T27 | 1063-1071 | SequenceVariant | denotes | c.798C>T |
| T28 | 1076-1083 | SequenceVariant | denotes | c.94C>T |
| T29 | 1085-1091 | SequenceVariant | denotes | p.R32W |
| T30 | 1210-1218 | SequenceVariant | denotes | -3170G>A |
| T31 | 1244-1252 | SequenceVariant | denotes | c.35delG |
| T32 | 1257-1265 | OrganismTaxon | denotes | patients |
| T33 | 1271-1289 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
biored-valid-deepseek-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 38-52 | GeneOrGeneProduct | denotes | connexin genes |
| T2 | 93-97 | GeneOrGeneProduct | denotes | GJB2 |
| T3 | 168-186 | DiseaseOrPhenotypicFeature | denotes | hearing impairment |
| T4 | 253-276 | GeneOrGeneProduct | denotes | connexin protein family |
| T5 | 607-611 | GeneOrGeneProduct | denotes | GJB6 |
| T6 | 616-620 | GeneOrGeneProduct | denotes | GJB3 |
| T7 | 776-784 | SequenceVariant | denotes | -3170G>A |
| T8 | 899-906 | SequenceVariant | denotes | p.R127H |
| T9 | 973-993 | SequenceVariant | denotes | Delta(GJB6-D13S1830) |
| T10 | 1053-1061 | SequenceVariant | denotes | c.357C>T |
| T11 | 1063-1071 | SequenceVariant | denotes | c.798C>T |
| T12 | 1076-1083 | SequenceVariant | denotes | c.94C>T |
| T13 | 1085-1091 | SequenceVariant | denotes | p.R32W |
| T14 | 1244-1252 | SequenceVariant | denotes | c.35delG |