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GENE - TERM ANNOTATION REPORT

RGD ID: 735850
Species: Homo sapiens
RGD Object: Gene
Symbol: MAGI2
Name: membrane associated guanylate kinase, WW and PDZ domain containing 2
Acc ID: DOID:0080271
Term: nephrotic syndrome type 15
Definition: A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/27932480 "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)
MAGI2 IAGP 7240710OMIM  
MAGI2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome 15PMID:25741868
MAGI2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome 15PMID:25741868 PMID:28492532
MAGI2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome 15PMID:27932480
MAGI2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome 15PMID:25741868 PMID:26467025 PMID:28492532 PMID:30986657
MAGI2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome 15PMID:25741868 PMID:26467025
MAGI2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome 15PMID:25741868 PMID:26467025 PMID:28492532
MAGI2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nephrotic syndrome 15PMID:18414213 PMID:25741868 PMID:28492532
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