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GENE - TERM ANNOTATION REPORT

RGD ID: 12542170
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Mthfr
Name: methylenetetrahydrofolate reductase
Acc ID: DOID:783
Term: end stage renal disease
Definition: A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/books/NBK499861/ "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)
Mthfr ISOMTHFR (Homo sapiens)9068941RGDDNA:SNP: :677C>T(human)PMID:25664255 REF_RGD_ID:14696732
Mthfrno_associationISOMTHFR (Homo sapiens)9068941RGDDNA:transition:cds:g.677C>T (human)PMID:19520069 REF_RGD_ID:6893523
MthfrseverityISOMTHFR (Homo sapiens)9068941RGDassociated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)PMID:14737040 REF_RGD_ID:6893524
MthfrsusceptibilityISOMTHFR (Homo sapiens)9068941RGDDNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)PMID:19520684 REF_RGD_ID:6893522
MthfrsusceptibilityISOMTHFR (Homo sapiens)9068941RGDDNA:transitions, transversion, haplotype:cds:g.677C>T, g.1298A>C, g.1793G>A (human)PMID:17899317 REF_RGD_ID:6893579
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