Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

RGD ID: 736710
Species: Mus musculus
RGD Object: Gene
Symbol: Trp63
Name: transformation related protein 63
Acc ID: DOID:0090119
Term: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Definition: An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/29339502 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/29956718 "DO" "DO", https://www.omim.org/entry/106260 "DO" "DO"
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)
Trp63 ISOTP63 (Homo sapiens)11568643RGDDNA:missense mutations:exon:multiple 
Trp63 ISOTP63 (Homo sapiens)7240710OMIM  
Trp63 ISOTP63 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:19239083 PMID:19676059
Trp63 ISOTP63 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndromePMID:10886756 PMID:11159940 PMID:15200513 PMID:16740912 PMID:17576681 PMID:19239083 PMID:19353588 PMID:19793345 PMID:21615690 PMID:24309930 PMID:25741868 PMID:28492532 PMID:9536098 PMID:9774969
Trp63 IAGP 13592920MouseDOOMIM:106260 
Go Back to source page   Continue to Ontology report