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GENE - TERM ANNOTATION REPORT

RGD ID: 18611845
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: ALDH2
Name: aldehyde dehydrogenase 2 family member
Acc ID: DOID:0080952
Term: AMED syndrome
Definition: A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance. (DO)
Definition Source(s): PMID:33355142 "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)
ALDH2 ISOALDH2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENICPMID:10627091 PMID:10780266 PMID:15654505 PMID:15902904 PMID:16046871 PMID:16440063 PMID:16679777 PMID:17885622 PMID:18056758 PMID:20010786 PMID:22992668 PMID:2987944 PMID:33355142 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 PMID:8903321
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