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GENE - TERM ANNOTATION REPORT

RGD ID: 8790610
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Dlgap1
Name: DLG associated protein 1
Acc ID: DOID:0110880
Term: holoprosencephaly 4
Definition: A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10835638 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/16323008 "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)
Dlgap1 ISODLGAP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Holoprosencephaly 4PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 PMID:28492532
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