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GENE - TERM ANNOTATION REPORT

RGD ID: 61957
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Isl1
Name: ISL LIM homeobox 1
Acc ID: DOID:1682
Term: congenital heart disease
Definition: Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.
Definition Source(s): MESH:D006330
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)
Isl1 ISOISL1 (Homo sapiens)243048468RGDDNA:mutation:cds: c.409G>T (p.E137X)(human) 
Isl1no_associationISOISL1 (Homo sapiens)243049243RGDDNA:SNPs:3'UTR:(human) 
Isl1susceptibilityISOISL1 (Homo sapiens)243049242RGDDNA:SNPs, haplotype:intron, 3'UTR:(human) 
Isl1 ISOISL1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Heart, malformation of 
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