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GENE - TERM ANNOTATION REPORT

RGD ID: 3340258
Species: Homo sapiens
RGD Object: Gene
Symbol: KHDC1L
Name: KH domain containing 1 like
Acc ID: DOID:3659
Term: sialuria
Definition: A lysosomal storage disease characterized by increased sialic acid in the urine. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Sialuria "DO" "DO", http://www.ncbi.nlm.nih.gov/books/NBK1164/ "DO" "DO", http://www.omim.org/entry/269921 "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)
KHDC1L IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Salla diseasePMID:10581036 PMID:10947946 PMID:15172001 PMID:28492532
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