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GENE - TERM ANNOTATION REPORT

RGD ID: 8837124
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Ahcy
Name: adenosylhomocysteinase
Acc ID: DOID:0111039
Term: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Definition: A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15024124 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/2380820 "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)
Ahcy ISOAHCY (Homo sapiens)7240710OMIM  
Ahcy ISOAHCY (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolasePMID:15024124 PMID:16435181 PMID:16736098 PMID:16872278 PMID:17576681 PMID:18211827 PMID:19177456 PMID:19619139 PMID:20385918 PMID:20852937 PMID:22959829 PMID:24033266 PMID:25473036 PMID:25660390 PMID:25741868 PMID:28492532 PMID:28647132 PMID:28779239 PMID:29205322 PMID:31957987 PMID:33072517 PMID:9536098
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