PubMed:10196695 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/10196695","sourcedb":"PubMed","sourceid":"10196695","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/10196695","text":"Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients.\nAngelman syndrome (AS) is a neurodevelopmental disorder caused by the absence of a maternal contribution to chromosome 15q11-q13. There are four classes of AS according to molecular or cytogenetic status: maternal microdeletion of 15q11-q13 (approximately 70% of AS patients); uniparental disomy (UPD); defects in a putative imprinting centre (IM); the fourth includes 20-30% of AS individuals with biparental inheritance and a normal pattern of allelic methylation in 15q11-q13. Mutations of UBE3A have recently been identified as causing AS in the latter group. Few studies have investigated the phenotypic differences between these classes. We compared 20 non-deletion to 20 age-matched deletion patients and found significant phenotypic differences between the two groups. The more severe phenotype in the deletion group may suggest a contiguous gene syndrome.","tracks":[{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10196695-3#13#18#gene7337","span":{"begin":587,"end":592},"obj":"gene7337"},{"id":"10196695-3#60#62#diseaseC0162635","span":{"begin":634,"end":636},"obj":"diseaseC0162635"}],"relations":[{"id":"13#18#gene733760#62#diseaseC0162635","pred":"associated_with","subj":"10196695-3#13#18#gene7337","obj":"10196695-3#60#62#diseaseC0162635"}],"attributes":[{"subj":"10196695-3#13#18#gene7337","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10196695-3#60#62#diseaseC0162635","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"BioLarkPubmedHPO","denotations":[{"id":"HP:0000707","span":{"begin":122,"end":149},"obj":"HP:0000707"},{"id":"HP:0001466","span":{"begin":933,"end":957},"obj":"HP:0001466"},{"id":"T1","span":{"begin":122,"end":149},"obj":"HP:0000707"},{"id":"T2","span":{"begin":933,"end":957},"obj":"HP:0001466"},{"id":"T1","span":{"begin":122,"end":149},"obj":"HP:0000707"},{"id":"T2","span":{"begin":933,"end":957},"obj":"HP:0001466"},{"id":"T1","span":{"begin":122,"end":149},"obj":"HP:0000707"},{"id":"T2","span":{"begin":933,"end":957},"obj":"HP:0001466"}],"namespaces":[{"prefix":"HP:","uri":"http://compbio.charite.de/hpoweb/showterm?id=HP:"}],"attributes":[{"subj":"HP:0000707","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"HP:0001466","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T1","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T2","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T1","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T2","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T1","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T2","pred":"source","obj":"BioLarkPubmedHPO"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":587,"end":592},"obj":"gene:7337"},{"id":"T1","span":{"begin":634,"end":636},"obj":"disease:C0162635"}],"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":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":122,"end":149},"obj":"HP_0000707"},{"id":"T2","span":{"begin":933,"end":957},"obj":"HP_0001466"}],"attributes":[{"subj":"T1","pred":"source","obj":"PubmedHPO"},{"subj":"T2","pred":"source","obj":"PubmedHPO"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"DisGeNET5_gene_disease","color":"#ec93b2","default":true},{"id":"BioLarkPubmedHPO","color":"#93ccec"},{"id":"DisGeNET","color":"#e6ec93"},{"id":"PubmedHPO","color":"#d893ec"}]}]}}