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GENE - TERM ANNOTATION REPORT

RGD ID: 1587441
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Immp1l
Name: inner mitochondrial membrane peptidase subunit 1
Acc ID: DOID:3764
Term: Denys-Drash syndrome
Definition: A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene). (DO)
Definition Source(s): http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049926/ "DO" "DO", ORDO:220 "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)
Immp1l ISOIMMP1L (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Drash syndromePMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532
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