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GENE - TERM ANNOTATION REPORT

RGD ID: 10998
Species: Mus musculus
RGD Object: Gene
Symbol: Notch1
Name: notch 1
Acc ID: DOID:9955
Term: hypoplastic left heart syndrome
Definition: A congenital heart disease characterized by abnormal development of the left-sided structures of the heart. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Hypoplastic_left_heart_syndrome "DO" "DO", http://rarediseases.info.nih.gov/gard/6739/hypoplastic-left-heart-syndrome/resources/1 "DO" "DO", http://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/hypoplastic_left_heart_syndrome.html "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)
Notch1 ISONOTCH1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypoplastic left heart syndromePMID:15472075 PMID:16614245 PMID:19245433 PMID:19635999 PMID:21670202 PMID:22077063 PMID:22210878 PMID:22858860 PMID:23086750 PMID:23734977 PMID:24728327 PMID:24943832 PMID:25741868 PMID:26837699 PMID:28492532 PMID:30511478
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