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GENE - TERM ANNOTATION REPORT

RGD ID: 736710
Species: Mus musculus
RGD Object: Gene
Symbol: Trp63
Name: transformation related protein 63
Acc ID: DOID:0090023
Term: split hand-foot malformation 4
Definition: A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10839977 "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)11568638RGDDNA:missense mutation, nonsense mutation, splice-site mutation: :p.K193E, p.Q634X (human) 
Trp63 ISOTP63 (Homo sapiens)11568644RGDDNA:missense mutations:exon:p.R227Q (c.680G>A) (human) 
Trp63 ISOTP63 (Homo sapiens)7240710OMIM  
Trp63 ISOTP63 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:16688749
Trp63 ISOTP63 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Split hand-foot malformation 4 | ClinVar Annotator: match by term: Split-hand/foot malformation 4PMID:10535733 PMID:10839977 PMID:12161593 PMID:12525544 PMID:15736220 PMID:16740912 PMID:17224651 PMID:17576681 PMID:18626511 PMID:18792980 PMID:20543567 PMID:21078104 PMID:21211247 PMID:21652629 PMID:23355676 PMID:23463580 PMID:24309930 PMID:25741868 PMID:28293528 PMID:28492532 PMID:29620206 PMID:31050217 PMID:3366140 PMID:34008892 PMID:9536098
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