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GENE - TERM ANNOTATION REPORT

RGD ID: 733485
Species: Homo sapiens
RGD Object: Gene
Symbol: HNRNPK
Name: heterogeneous nuclear ribonucleoprotein K
Acc ID: DOID:9003837
Term: Au-Kline Syndrome
Definition: AUKS is caused by heterozygous mutation in the HNRNPK gene on chromosome 9q21. (OMIM)
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)
HNRNPK IAGP 7240710OMIM  
HNRNPK EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
HNRNPK IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Au-Kline syndromePMID:25741868 PMID:26173930 PMID:26220823
HNRNPK IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Au-Kline syndromePMID:25741868 PMID:26173930 PMID:26220823 PMID:30998304
HNRNPK IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Au-Kline syndromePMID:18414213 PMID:25741868 PMID:26173930 PMID:26954065
HNRNPK IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Au-Kline syndromePMID:25741868 PMID:29904177
HNRNPK 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) 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) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Au-Kline syndromePMID:25741868
HNRNPK IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Au-Kline syndrome 
HNRNPK IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Au-Kline syndromePMID:25741868 PMID:36130591
HNRNPK IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Au-Kline syndromePMID:25741868 PMID:28374925 PMID:30998304
HNRNPK IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Au-Kline syndromePMID:25741868 PMID:28771707 PMID:30998304
HNRNPK IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Au-Kline syndromePMID:25741868 PMID:26173930 PMID:29904177
HNRNPK IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Au-Kline syndromePMID:30793470
HNRNPK IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Au-Kline syndromePMID:32222014
HNRNPK IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Au-Kline syndromePMID:25741868 PMID:28492532
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