PubMed:23528641 / 0-114
Annnotations
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":29,"end":33},"obj":"gene:6934"},{"id":"T1","span":{"begin":55,"end":76},"obj":"disease:C1970431"},{"id":"T2","span":{"begin":29,"end":33},"obj":"gene:6925"},{"id":"T3","span":{"begin":55,"end":76},"obj":"disease:C1970431"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with "}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"23528641-0#29#33#gene6925","span":{"begin":29,"end":33},"obj":"gene6925"},{"id":"23528641-0#55#76#diseaseC1970431","span":{"begin":55,"end":76},"obj":"diseaseC1970431"}],"relations":[{"id":"29#33#gene692555#76#diseaseC1970431","pred":"associated_with","subj":"23528641-0#29#33#gene6925","obj":"23528641-0#55#76#diseaseC1970431"}],"text":"263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with "}
PubCasesORDO
{"project":"PubCasesORDO","denotations":[{"id":"TI1","span":{"begin":55,"end":76},"obj":"ORDO:2896"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with "}