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GENE - TERM ANNOTATION REPORT

RGD ID: 18715090
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: GPC3
Name: glypican 3
Acc ID: DOID:0060248
Term: Simpson-Golabi-Behmel syndrome type 1
Definition: A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome "DO" "DO", http://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/36720533/ "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)
GPC3 ISOGPC3 (Homo sapiens)7240710OMIM  
GPC3 ISOGPC3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dysplasia gigantism syndrome, X-linked | ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1PMID:10402475 PMID:10814714 PMID:12713262 PMID:16158429 PMID:17603795 PMID:17850639 PMID:18203194 PMID:19215053 PMID:20301398 PMID:23606591 PMID:24459012 PMID:24728327 PMID:25741868 PMID:26321508 PMID:26467025 PMID:28492532 PMID:9950367
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