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PubMed:22104738 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-89 Sentence denotes Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria.
TextSentencer_T2 90-306 Sentence denotes A 3-year-old Chinese boy presented with prominent clinical features of malonic aciduria, including developmental delay, short stature, brain abnormalities and massive excretion of malonic acid and methylmalonic acid.
TextSentencer_T3 307-595 Sentence denotes Molecular characterization by DNA sequencing analysis and multiplex ligation-dependent probe amplification of the MLYCD gene revealed a heterozygous mutation (c.920T>G, p.Leu307Arg) in the patient and his father and a heterozygous deletion comprising exon 1 in the patient and his mother.
TextSentencer_T4 596-704 Sentence denotes The missense mutation (c.920T>G) was not found in 100 healthy controls and has not been reported previously.
TextSentencer_T5 705-813 Sentence denotes Our findings expand the number of reported cases and add a novel entry to the repertoire of MLYCD mutations.
T1 0-89 Sentence denotes Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria.
T2 90-306 Sentence denotes A 3-year-old Chinese boy presented with prominent clinical features of malonic aciduria, including developmental delay, short stature, brain abnormalities and massive excretion of malonic acid and methylmalonic acid.
T3 307-595 Sentence denotes Molecular characterization by DNA sequencing analysis and multiplex ligation-dependent probe amplification of the MLYCD gene revealed a heterozygous mutation (c.920T>G, p.Leu307Arg) in the patient and his father and a heterozygous deletion comprising exon 1 in the patient and his mother.
T4 596-704 Sentence denotes The missense mutation (c.920T>G) was not found in 100 healthy controls and has not been reported previously.
T5 705-813 Sentence denotes Our findings expand the number of reported cases and add a novel entry to the repertoire of MLYCD mutations.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 169-177 HP_0012072 denotes aciduria
T2 189-208 HP_0001263 denotes developmental delay
T3 210-223 HP_0004322 denotes short stature
T4 225-244 HP_0012443 denotes brain abnormalities

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
22104738-0#40#45#gene23417 40-45 gene23417 denotes MLYCD
22104738-0#72#88#diseaseC0342793 72-88 diseaseC0342793 denotes malonic aciduria
40#45#gene2341772#88#diseaseC0342793 22104738-0#40#45#gene23417 22104738-0#72#88#diseaseC0342793 associated_with MLYCD,malonic aciduria

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 225-230 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 169-177 HP:0012072 denotes aciduria
TI1 80-88 HP:0012072 denotes aciduria
AB2 210-223 HP:0004322 denotes short stature

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 161-177 ORDO:943 denotes malonic aciduria
TI1 72-88 ORDO:943 denotes malonic aciduria

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 225-230 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 466-474 DNAMutation:c|SUB|T|920|G denotes c.920T>G
T2 476-487 ProteinMutation:p|SUB|L|307|R denotes p.Leu307Arg
T3 619-627 DNAMutation:c|SUB|T|920|G denotes c.920T>G