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PubMed:22633639 JSONTXT

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LitCoin-PubTator-for-Tuning

Id Subject Object Predicate Lexical cue tao:has_database_id tao:has_standard_notation
1 41-67 DiseaseOrPhenotypicFeature denotes nonketotic hyperglycinemia MESH:D020158
23 69-95 DiseaseOrPhenotypicFeature denotes Nonketotic hyperglycinemia MESH:D020158
24 111-118 ChemicalEntity denotes glycine MESH:D005998
25 119-133 DiseaseOrPhenotypicFeature denotes encephalopathy MESH:D001927
26 141-169 DiseaseOrPhenotypicFeature denotes autosomal recessive disorder MESH:D030342
27 176-188 DiseaseOrPhenotypicFeature denotes inborn error MESH:D008661
28 196-203 ChemicalEntity denotes glycine MESH:D005998
29 258-265 ChemicalEntity denotes glycine MESH:D005998
30 332-341 GeneOrGeneProduct denotes P-protein Gene:4948
31 377-384 ChemicalEntity denotes glycine MESH:D005998
32 402-423 GeneOrGeneProduct denotes glycine decarboxylase Gene:2731
33 457-466 DiseaseOrPhenotypicFeature denotes hypotonia MESH:D009123
34 468-475 DiseaseOrPhenotypicFeature denotes hiccups MESH:D006606
35 492-497 DiseaseOrPhenotypicFeature denotes apnea MESH:D001049
36 511-519 DiseaseOrPhenotypicFeature denotes seizures MESH:D012640
37 525-532 OrganismTaxon denotes patient Tax:9606
38 535-542 ChemicalEntity denotes glycine MESH:D005998
39 851-858 SequenceVariant denotes p.A377V p.A377V
40 864-878 SequenceVariant denotes c.2081_2088del c.2081_2088del
41 880-892 SequenceVariant denotes p.A694DfsX11 p.A694DfsX11
42 920-941 GeneOrGeneProduct denotes glycine decarboxylase Gene:2731
43 974-1000 DiseaseOrPhenotypicFeature denotes nonketotic hyperglycinemia MESH:D020158

LitCoin-Disease-Tuning-1

Id Subject Object Predicate Lexical cue ID:
T1 41-67 DiseaseOrPhenotypicFeature denotes nonketotic hyperglycinemia D020158
T2 69-95 DiseaseOrPhenotypicFeature denotes Nonketotic hyperglycinemia D020158
T3 111-133 DiseaseOrPhenotypicFeature denotes glycine encephalopathy D020158
T4 141-169 DiseaseOrPhenotypicFeature denotes autosomal recessive disorder DISEASE
T5 457-466 DiseaseOrPhenotypicFeature denotes hypotonia D009123
T6 468-475 DiseaseOrPhenotypicFeature denotes hiccups D006606
T7 492-497 DiseaseOrPhenotypicFeature denotes apnea D001049
T8 511-519 DiseaseOrPhenotypicFeature denotes seizures D012640
T9 974-1000 DiseaseOrPhenotypicFeature denotes nonketotic hyperglycinemia D020158

LitCoin-PubTator-for-Tuning-SeqVar

Id Subject Object Predicate Lexical cue
T1 840-849 SequenceVariant denotes c.1130C>T
T2 851-858 SequenceVariant denotes p.A377V
T3 864-878 SequenceVariant denotes c.2081_2088del
T4 880-892 SequenceVariant denotes p.A694DfsX11

LitEisuke

Id Subject Object Predicate Lexical cue #label
T1 41-67 DiseaseOrPhenotypicFeature denotes nonketotic hyperglycinemia D020158
T2 69-95 DiseaseOrPhenotypicFeature denotes Nonketotic hyperglycinemia D020158
T3 111-133 DiseaseOrPhenotypicFeature denotes glycine encephalopathy D020158
T4 141-169 DiseaseOrPhenotypicFeature denotes autosomal recessive disorder DISEASE
T5 457-466 DiseaseOrPhenotypicFeature denotes hypotonia D009123
T6 468-475 DiseaseOrPhenotypicFeature denotes hiccups D006606
T7 492-497 DiseaseOrPhenotypicFeature denotes apnea D001049
T8 511-519 DiseaseOrPhenotypicFeature denotes seizures D012640
T9 974-1000 DiseaseOrPhenotypicFeature denotes nonketotic hyperglycinemia D020158

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-68 Sentence denotes Two novel missense mutations observed in nonketotic hyperglycinemia.
TextSentencer_T2 69-282 Sentence denotes Nonketotic hyperglycinemia, also known as glycine encephalopathy, is an autosomal recessive disorder of an inborn error of the glycine metabolism, caused by deficiency in the mitochondrial glycine cleavage enzyme.
TextSentencer_T3 283-424 Sentence denotes The majority of cases are caused by mutations in P-protein, one of the four components of the glycine cleavage enzyme, glycine decarboxylase.
TextSentencer_T4 425-520 Sentence denotes We describe a male neonate with hypotonia, hiccups, and persistent apnea, but without seizures.
TextSentencer_T5 521-703 Sentence denotes The patient's glycine level in cerebrospinal fluid and plasma was 328.3 nmol/mL (reference value, 2.2-14.2 nmol/mL) and 1439 nmol/mL (reference value, 232-740 nmol/mL), respectively.
TextSentencer_T6 704-796 Sentence denotes The cerebrospinal fluid/plasma ratio of 0.228 represented an increase (normal range, <0.04).
TextSentencer_T7 797-1001 Sentence denotes Two novel heterozygous missense mutations (c.1130C>T (p.A377V) and c.2081_2088del (p.A694DfsX11) in exons 8 and 18) in the glycine decarboxylase gene confirmed the diagnosis of nonketotic hyperglycinemia.
T1 0-68 Sentence denotes Two novel missense mutations observed in nonketotic hyperglycinemia.
T2 69-282 Sentence denotes Nonketotic hyperglycinemia, also known as glycine encephalopathy, is an autosomal recessive disorder of an inborn error of the glycine metabolism, caused by deficiency in the mitochondrial glycine cleavage enzyme.
T3 283-424 Sentence denotes The majority of cases are caused by mutations in P-protein, one of the four components of the glycine cleavage enzyme, glycine decarboxylase.
T4 425-520 Sentence denotes We describe a male neonate with hypotonia, hiccups, and persistent apnea, but without seizures.
T5 521-703 Sentence denotes The patient's glycine level in cerebrospinal fluid and plasma was 328.3 nmol/mL (reference value, 2.2-14.2 nmol/mL) and 1439 nmol/mL (reference value, 232-740 nmol/mL), respectively.
T6 704-796 Sentence denotes The cerebrospinal fluid/plasma ratio of 0.228 represented an increase (normal range, <0.04).
T7 797-1001 Sentence denotes Two novel heterozygous missense mutations (c.1130C>T (p.A377V) and c.2081_2088del (p.A694DfsX11) in exons 8 and 18) in the glycine decarboxylase gene confirmed the diagnosis of nonketotic hyperglycinemia.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 920-941 gene:2731 denotes glycine decarboxylase
T1 974-1000 disease:C0751748 denotes nonketotic hyperglycinemia
R1 T0 T1 associated_with glycine decarboxylase,nonketotic hyperglycinemia

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 69-95 HP_0008288 denotes Nonketotic hyperglycinemia
T2 80-95 HP_0002154 denotes hyperglycinemia
T3 119-133 HP_0001298 denotes encephalopathy
T4 141-160 HP_0000007 denotes autosomal recessive
T5 244-257 HP_0001427 denotes mitochondrial
T6 444-466 HP_0001319 denotes neonate with hypotonia
T7 457-466 HP_0001252 denotes hypotonia
T8 492-497 HP_0002104 denotes apnea
T9 511-519 HP_0001250 denotes seizures
T10 974-1000 HP_0008288 denotes nonketotic hyperglycinemia
T11 985-1000 HP_0002154 denotes hyperglycinemia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
22633639-6#123#144#gene2731 920-941 gene2731 denotes glycine decarboxylase
22633639-6#177#203#diseaseC0751748 974-1000 diseaseC0751748 denotes nonketotic hyperglycinemia
123#144#gene2731177#203#diseaseC0751748 22633639-6#123#144#gene2731 22633639-6#177#203#diseaseC0751748 associated_with glycine decarboxylase,nonketotic hyperglycinemia

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 552-571 http://purl.obolibrary.org/obo/UBERON_0001359 denotes cerebrospinal fluid
PD-UBERON-AE-B_T2 708-727 http://purl.obolibrary.org/obo/UBERON_0001359 denotes cerebrospinal fluid

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 69-95 HP:0008288 denotes Nonketotic hyperglycinemia
TI1 41-67 HP:0008288 denotes nonketotic hyperglycinemia
AB2 492-497 HP:0002104 denotes apnea
AB3 511-519 HP:0001250 denotes seizures
AB4 974-1000 HP:0008288 denotes nonketotic hyperglycinemia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 111-133 ORDO:407 denotes glycine encephalopathy

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 552-571 http://purl.obolibrary.org/obo/UBERON_0001359 denotes cerebrospinal fluid
PD-UBERON-AE-B_T2 708-727 http://purl.obolibrary.org/obo/UBERON_0001359 denotes cerebrospinal fluid