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GENE - TERM ANNOTATION REPORT

RGD ID: 619949
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Kidins220
Name: kinase D-interacting substrate 220
Acc ID: DOID:9006183
Term: Ventriculomegaly and Arthrogryposis
Definition: A severe autosomal recessive congenital disorder characterized by the onset of features in utero that are not compatible with life. Caused by homozygous mutation in the KIDINS220 gene on chromosome 2p25. (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)
Kidins220 ISOKIDINS220 (Homo sapiens)7240710OMIM  
Kidins220 ISOKIDINS220 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: KIDINS220-related condition | ClinVar Annotator: match by term: Ventriculomegaly and arthrogryposisPMID:17576681 PMID:25741868 PMID:28492532 PMID:28934391 PMID:32909676 PMID:33205811 PMID:9536098
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