PubMed:22633639 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/22633639","sourcedb":"PubMed","sourceid":"22633639","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/22633639","text":"Two novel missense mutations observed in nonketotic hyperglycinemia.\nNonketotic 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. The majority of cases are caused by mutations in P-protein, one of the four components of the glycine cleavage enzyme, glycine decarboxylase. We describe a male neonate with hypotonia, hiccups, and persistent apnea, but without seizures. 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. The cerebrospinal fluid/plasma ratio of 0.228 represented an increase (normal range, \u003c0.04). Two novel heterozygous missense mutations (c.1130C\u003eT (p.A377V) and c.2081_2088del (p.A694DfsX11) in exons 8 and 18) in the glycine decarboxylase gene confirmed the diagnosis of nonketotic hyperglycinemia.","tracks":[{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":552,"end":571},"obj":"http://purl.obolibrary.org/obo/UBERON_0001359"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":708,"end":727},"obj":"http://purl.obolibrary.org/obo/UBERON_0001359"}],"attributes":[{"subj":"PD-UBERON-AE-B_T1","pred":"source","obj":"performance-test"},{"subj":"PD-UBERON-AE-B_T2","pred":"source","obj":"performance-test"}]},{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":69,"end":95},"obj":"HP_0008288"},{"id":"T2","span":{"begin":80,"end":95},"obj":"HP_0002154"},{"id":"T3","span":{"begin":119,"end":133},"obj":"HP_0001298"},{"id":"T4","span":{"begin":141,"end":160},"obj":"HP_0000007"},{"id":"T5","span":{"begin":244,"end":257},"obj":"HP_0001427"},{"id":"T6","span":{"begin":444,"end":466},"obj":"HP_0001319"},{"id":"T7","span":{"begin":457,"end":466},"obj":"HP_0001252"},{"id":"T8","span":{"begin":492,"end":497},"obj":"HP_0002104"},{"id":"T9","span":{"begin":511,"end":519},"obj":"HP_0001250"},{"id":"T10","span":{"begin":974,"end":1000},"obj":"HP_0008288"},{"id":"T11","span":{"begin":985,"end":1000},"obj":"HP_0002154"}],"attributes":[{"subj":"T1","pred":"source","obj":"PubmedHPO"},{"subj":"T2","pred":"source","obj":"PubmedHPO"},{"subj":"T3","pred":"source","obj":"PubmedHPO"},{"subj":"T4","pred":"source","obj":"PubmedHPO"},{"subj":"T5","pred":"source","obj":"PubmedHPO"},{"subj":"T6","pred":"source","obj":"PubmedHPO"},{"subj":"T7","pred":"source","obj":"PubmedHPO"},{"subj":"T8","pred":"source","obj":"PubmedHPO"},{"subj":"T9","pred":"source","obj":"PubmedHPO"},{"subj":"T10","pred":"source","obj":"PubmedHPO"},{"subj":"T11","pred":"source","obj":"PubmedHPO"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":920,"end":941},"obj":"gene:2731"},{"id":"T1","span":{"begin":974,"end":1000},"obj":"disease:C0751748"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"}]},{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":68},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":69,"end":282},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":283,"end":424},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":425,"end":520},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":521,"end":703},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":704,"end":796},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":797,"end":1001},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":68},"obj":"Sentence"},{"id":"T2","span":{"begin":69,"end":282},"obj":"Sentence"},{"id":"T3","span":{"begin":283,"end":424},"obj":"Sentence"},{"id":"T4","span":{"begin":425,"end":520},"obj":"Sentence"},{"id":"T5","span":{"begin":521,"end":703},"obj":"Sentence"},{"id":"T6","span":{"begin":704,"end":796},"obj":"Sentence"},{"id":"T7","span":{"begin":797,"end":1001},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"attributes":[{"subj":"TextSentencer_T1","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T2","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T3","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T4","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T5","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T6","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T7","pred":"source","obj":"sentences"},{"subj":"T1","pred":"source","obj":"sentences"},{"subj":"T2","pred":"source","obj":"sentences"},{"subj":"T3","pred":"source","obj":"sentences"},{"subj":"T4","pred":"source","obj":"sentences"},{"subj":"T5","pred":"source","obj":"sentences"},{"subj":"T6","pred":"source","obj":"sentences"},{"subj":"T7","pred":"source","obj":"sentences"}]},{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":552,"end":571},"obj":"http://purl.obolibrary.org/obo/UBERON_0001359"},{"id":"PD-UBERON-AE-B_T2","span":{"begin":708,"end":727},"obj":"http://purl.obolibrary.org/obo/UBERON_0001359"}],"attributes":[{"subj":"PD-UBERON-AE-B_T1","pred":"source","obj":"UBERON-AE"},{"subj":"PD-UBERON-AE-B_T2","pred":"source","obj":"UBERON-AE"}]},{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":69,"end":95},"obj":"HP:0008288"},{"id":"TI1","span":{"begin":41,"end":67},"obj":"HP:0008288"},{"id":"AB2","span":{"begin":492,"end":497},"obj":"HP:0002104"},{"id":"AB3","span":{"begin":511,"end":519},"obj":"HP:0001250"},{"id":"AB4","span":{"begin":974,"end":1000},"obj":"HP:0008288"}],"attributes":[{"subj":"AB1","pred":"source","obj":"PubCasesHPO"},{"subj":"TI1","pred":"source","obj":"PubCasesHPO"},{"subj":"AB2","pred":"source","obj":"PubCasesHPO"},{"subj":"AB3","pred":"source","obj":"PubCasesHPO"},{"subj":"AB4","pred":"source","obj":"PubCasesHPO"}]},{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":111,"end":133},"obj":"ORDO:407"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"attributes":[{"subj":"AB1","pred":"source","obj":"PubCasesORDO"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"22633639-6#123#144#gene2731","span":{"begin":920,"end":941},"obj":"gene2731"},{"id":"22633639-6#177#203#diseaseC0751748","span":{"begin":974,"end":1000},"obj":"diseaseC0751748"}],"relations":[{"id":"123#144#gene2731177#203#diseaseC0751748","pred":"associated_with","subj":"22633639-6#123#144#gene2731","obj":"22633639-6#177#203#diseaseC0751748"}],"attributes":[{"subj":"22633639-6#123#144#gene2731","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"22633639-6#177#203#diseaseC0751748","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"LitCoin-PubTator-for-Tuning","denotations":[{"id":"1","span":{"begin":41,"end":67},"obj":"DiseaseOrPhenotypicFeature"},{"id":"23","span":{"begin":69,"end":95},"obj":"DiseaseOrPhenotypicFeature"},{"id":"24","span":{"begin":111,"end":118},"obj":"ChemicalEntity"},{"id":"25","span":{"begin":119,"end":133},"obj":"DiseaseOrPhenotypicFeature"},{"id":"26","span":{"begin":141,"end":169},"obj":"DiseaseOrPhenotypicFeature"},{"id":"27","span":{"begin":176,"end":188},"obj":"DiseaseOrPhenotypicFeature"},{"id":"28","span":{"begin":196,"end":203},"obj":"ChemicalEntity"},{"id":"29","span":{"begin":258,"end":265},"obj":"ChemicalEntity"},{"id":"30","span":{"begin":332,"end":341},"obj":"GeneOrGeneProduct"},{"id":"31","span":{"begin":377,"end":384},"obj":"ChemicalEntity"},{"id":"32","span":{"begin":402,"end":423},"obj":"GeneOrGeneProduct"},{"id":"33","span":{"begin":457,"end":466},"obj":"DiseaseOrPhenotypicFeature"},{"id":"34","span":{"begin":468,"end":475},"obj":"DiseaseOrPhenotypicFeature"},{"id":"35","span":{"begin":492,"end":497},"obj":"DiseaseOrPhenotypicFeature"},{"id":"36","span":{"begin":511,"end":519},"obj":"DiseaseOrPhenotypicFeature"},{"id":"37","span":{"begin":525,"end":532},"obj":"OrganismTaxon"},{"id":"38","span":{"begin":535,"end":542},"obj":"ChemicalEntity"},{"id":"39","span":{"begin":851,"end":858},"obj":"SequenceVariant"},{"id":"40","span":{"begin":864,"end":878},"obj":"SequenceVariant"},{"id":"41","span":{"begin":880,"end":892},"obj":"SequenceVariant"},{"id":"42","span":{"begin":920,"end":941},"obj":"GeneOrGeneProduct"},{"id":"43","span":{"begin":974,"end":1000},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A35","pred":"tao:has_database_id","subj":"35","obj":"MESH:D001049"},{"id":"A42","pred":"tao:has_database_id","subj":"42","obj":"Gene:2731"},{"id":"A33","pred":"tao:has_database_id","subj":"33","obj":"MESH:D009123"},{"id":"A30","pred":"tao:has_database_id","subj":"30","obj":"Gene:4948"},{"id":"A24","pred":"tao:has_database_id","subj":"24","obj":"MESH:D005998"},{"id":"A27","pred":"tao:has_database_id","subj":"27","obj":"MESH:D008661"},{"id":"A23","pred":"tao:has_database_id","subj":"23","obj":"MESH:D020158"},{"id":"A36","pred":"tao:has_database_id","subj":"36","obj":"MESH:D012640"},{"id":"A26","pred":"tao:has_database_id","subj":"26","obj":"MESH:D030342"},{"id":"A34","pred":"tao:has_database_id","subj":"34","obj":"MESH:D006606"},{"id":"A25","pred":"tao:has_database_id","subj":"25","obj":"MESH:D001927"},{"id":"A41","pred":"tao:has_standard_notation","subj":"41","obj":"p.A694DfsX11"},{"id":"A1","pred":"tao:has_database_id","subj":"1","obj":"MESH:D020158"},{"id":"A29","pred":"tao:has_database_id","subj":"29","obj":"MESH:D005998"},{"id":"A38","pred":"tao:has_database_id","subj":"38","obj":"MESH:D005998"},{"id":"A31","pred":"tao:has_database_id","subj":"31","obj":"MESH:D005998"},{"id":"A43","pred":"tao:has_database_id","subj":"43","obj":"MESH:D020158"},{"id":"A39","pred":"tao:has_standard_notation","subj":"39","obj":"p.A377V"},{"id":"A40","pred":"tao:has_standard_notation","subj":"40","obj":"c.2081_2088del"},{"id":"A32","pred":"tao:has_database_id","subj":"32","obj":"Gene:2731"},{"id":"A28","pred":"tao:has_database_id","subj":"28","obj":"MESH:D005998"},{"id":"A37","pred":"tao:has_database_id","subj":"37","obj":"Tax:9606"},{"subj":"1","pred":"source","obj":"LitCoin-PubTator-for-Tuning"},{"subj":"23","pred":"source","obj":"LitCoin-PubTator-for-Tuning"},{"subj":"24","pred":"source","obj":"LitCoin-PubTator-for-Tuning"},{"subj":"25","pred":"source","obj":"LitCoin-PubTator-for-Tuning"},{"subj":"26","pred":"source","obj":"LitCoin-PubTator-for-Tuning"},{"subj":"27","pred":"source","obj":"LitCoin-PubTator-for-Tuning"},{"subj":"28","pred":"source","obj":"LitCoin-PubTator-for-Tuning"},{"subj":"29","pred":"source","obj":"LitCoin-PubTator-for-Tuning"},{"subj":"30","pred":"source","obj":"LitCoin-PubTator-for-Tuning"},{"subj":"31","pred":"source","obj":"LitCoin-PubTator-for-Tuning"},{"subj":"32","pred":"source","obj":"LitCoin-PubTator-for-Tuning"},{"subj":"33","pred":"source","obj":"LitCoin-PubTator-for-Tuning"},{"subj":"34","pred":"source","obj":"LitCoin-PubTator-for-Tuning"},{"subj":"35","pred":"source","obj":"LitCoin-PubTator-for-Tuning"},{"subj":"36","pred":"source","obj":"LitCoin-PubTator-for-Tuning"},{"subj":"37","pred":"source","obj":"LitCoin-PubTator-for-Tuning"},{"subj":"38","pred":"source","obj":"LitCoin-PubTator-for-Tuning"},{"subj":"39","pred":"source","obj":"LitCoin-PubTator-for-Tuning"},{"subj":"40","pred":"source","obj":"LitCoin-PubTator-for-Tuning"},{"subj":"41","pred":"source","obj":"LitCoin-PubTator-for-Tuning"},{"subj":"42","pred":"source","obj":"LitCoin-PubTator-for-Tuning"},{"subj":"43","pred":"source","obj":"LitCoin-PubTator-for-Tuning"}]},{"project":"LitCoin-Disease-Tuning-1","denotations":[{"id":"T1","span":{"begin":41,"end":67},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":69,"end":95},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":111,"end":133},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":141,"end":169},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":457,"end":466},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":468,"end":475},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":492,"end":497},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":511,"end":519},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":974,"end":1000},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A5","pred":"ID:","subj":"T5","obj":"D009123"},{"id":"A6","pred":"ID:","subj":"T6","obj":"D006606"},{"id":"A3","pred":"ID:","subj":"T3","obj":"D020158"},{"id":"A8","pred":"ID:","subj":"T8","obj":"D012640"},{"id":"A2","pred":"ID:","subj":"T2","obj":"D020158"},{"id":"A1","pred":"ID:","subj":"T1","obj":"D020158"},{"id":"A9","pred":"ID:","subj":"T9","obj":"D020158"},{"id":"A4","pred":"ID:","subj":"T4","obj":"DISEASE"},{"id":"A7","pred":"ID:","subj":"T7","obj":"D001049"},{"subj":"T1","pred":"source","obj":"LitCoin-Disease-Tuning-1"},{"subj":"T2","pred":"source","obj":"LitCoin-Disease-Tuning-1"},{"subj":"T3","pred":"source","obj":"LitCoin-Disease-Tuning-1"},{"subj":"T4","pred":"source","obj":"LitCoin-Disease-Tuning-1"},{"subj":"T5","pred":"source","obj":"LitCoin-Disease-Tuning-1"},{"subj":"T6","pred":"source","obj":"LitCoin-Disease-Tuning-1"},{"subj":"T7","pred":"source","obj":"LitCoin-Disease-Tuning-1"},{"subj":"T8","pred":"source","obj":"LitCoin-Disease-Tuning-1"},{"subj":"T9","pred":"source","obj":"LitCoin-Disease-Tuning-1"}]},{"project":"LitCoin-PubTator-for-Tuning-SeqVar","denotations":[{"id":"T1","span":{"begin":840,"end":849},"obj":"SequenceVariant"},{"id":"T2","span":{"begin":851,"end":858},"obj":"SequenceVariant"},{"id":"T3","span":{"begin":864,"end":878},"obj":"SequenceVariant"},{"id":"T4","span":{"begin":880,"end":892},"obj":"SequenceVariant"}],"attributes":[{"subj":"T1","pred":"source","obj":"LitCoin-PubTator-for-Tuning-SeqVar"},{"subj":"T2","pred":"source","obj":"LitCoin-PubTator-for-Tuning-SeqVar"},{"subj":"T3","pred":"source","obj":"LitCoin-PubTator-for-Tuning-SeqVar"},{"subj":"T4","pred":"source","obj":"LitCoin-PubTator-for-Tuning-SeqVar"}]},{"project":"LitEisuke","denotations":[{"id":"T1","span":{"begin":41,"end":67},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":69,"end":95},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":111,"end":133},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":141,"end":169},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":457,"end":466},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":468,"end":475},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":492,"end":497},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":511,"end":519},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":974,"end":1000},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A2","pred":"#label","subj":"T2","obj":"D020158"},{"id":"A5","pred":"#label","subj":"T5","obj":"D009123"},{"id":"A3","pred":"#label","subj":"T3","obj":"D020158"},{"id":"A9","pred":"#label","subj":"T9","obj":"D020158"},{"id":"A8","pred":"#label","subj":"T8","obj":"D012640"},{"id":"A6","pred":"#label","subj":"T6","obj":"D006606"},{"id":"A7","pred":"#label","subj":"T7","obj":"D001049"},{"id":"A1","pred":"#label","subj":"T1","obj":"D020158"},{"id":"A4","pred":"#label","subj":"T4","obj":"DISEASE"},{"subj":"T1","pred":"source","obj":"LitEisuke"},{"subj":"T2","pred":"source","obj":"LitEisuke"},{"subj":"T3","pred":"source","obj":"LitEisuke"},{"subj":"T4","pred":"source","obj":"LitEisuke"},{"subj":"T5","pred":"source","obj":"LitEisuke"},{"subj":"T6","pred":"source","obj":"LitEisuke"},{"subj":"T7","pred":"source","obj":"LitEisuke"},{"subj":"T8","pred":"source","obj":"LitEisuke"},{"subj":"T9","pred":"source","obj":"LitEisuke"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"performance-test","color":"#ec93a8","default":true},{"id":"PubmedHPO","color":"#93c2ec"},{"id":"DisGeNET","color":"#dcec93"},{"id":"sentences","color":"#e193ec"},{"id":"UBERON-AE","color":"#93ecc7"},{"id":"PubCasesHPO","color":"#ecad93"},{"id":"PubCasesORDO","color":"#9393ec"},{"id":"DisGeNET5_gene_disease","color":"#acec93"},{"id":"LitCoin-PubTator-for-Tuning","color":"#ec93c6"},{"id":"LitCoin-Disease-Tuning-1","color":"#93e0ec"},{"id":"LitCoin-PubTator-for-Tuning-SeqVar","color":"#ecde93"},{"id":"LitEisuke","color":"#c393ec"}]}]}}