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GENE - TERM ANNOTATION REPORT

RGD ID: 11864208
Species: Pan paniscus
RGD Object: Gene
Symbol: FAT4
Name: FAT atypical cadherin 4
Acc ID: DOID:0080586
Term: Van Maldergem syndrome 2
Definition: A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/24056717 "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)
FAT4 ISOFAT4 (Homo sapiens)7240710OMIM  
FAT4 ISOFAT4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: FAT4-related condition | ClinVar Annotator: match by term: Van Maldergem syndrome 2PMID:22469822 PMID:22473091 PMID:24033266 PMID:24056717 PMID:24913602 PMID:25741868 PMID:2624276 PMID:26325558 PMID:28492532 PMID:28878612 PMID:30143558 PMID:31384091
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