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GENE - TERM ANNOTATION REPORT

RGD ID: 621160
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Nup107
Name: nucleoporin 107
Acc ID: DOID:9001199
Term: Galloway-Mowat Syndrome 7
Definition: Galloway-Mowat syndrome-7 (GAMOS7) is an autosomal recessive disorder characterized by developmental delay, microcephaly, and early-onset nephrotic syndrome. GAMOS7 is caused by homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15.
Definition Source(s): OMIM:618348
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)
Nup107 ISONUP107 (Homo sapiens)7240710OMIM  
Nup107 ISONUP107 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Galloway-Mowat syndrome 7PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 PMID:30179222
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