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GENE - TERM ANNOTATION REPORT

RGD ID: 1305446
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Trrap
Name: transformation/transcription domain-associated protein
Acc ID: DOID:9009182
Term: Developmental Delay with or without Dysmorphic Facies and Autism
Definition: A complex neurodevelopmental disorder apparent from infancy or early childhood and associated with variably impaired intellectual development. Genetic analysis has suggested that the phenotype can be broadly categorized into 2 main groups, with severity being the main difference.
Definition Source(s): MIM:618454
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Trrap ISOTRRAP (Homo sapiens)7240710OMIM  
Trrap ISOTRRAP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental delay with or without dysmorphic facies and autism | ClinVar Annotator: match by term: TRRAP-related disorder | ClinVar Annotator: match by term: TRRAP-related neurodevelopmental disorderPMID:17576681 PMID:25741868 PMID:28492532 PMID:30424743 PMID:30827496 PMID:9536098
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