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GENE - TERM ANNOTATION REPORT

RGD ID: 1603048
Species: Homo sapiens
RGD Object: Gene
Symbol: PAM16
Name: presequence translocase associated motor 16
Acc ID: DOID:1933
Term: Rubinstein-Taybi syndrome
Definition: A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
Definition Source(s): MESH:D012415, http://en.wikipedia.org/wiki/Rubinstein%E2%80%93Taybi_syndrome, http://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 IAGPRGD:147011208554872ClinVarClinVar Annotator: match by term: Rubinstein-Taybi syndrome

PMID:12114483, PMID:17855048, PMID:25805166, PMID:27257017, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.