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GENE - TERM ANNOTATION REPORT

RGD ID: 1313979
Species: Homo sapiens
RGD Object: Gene
Symbol: TYMP
Name: thymidine phosphorylase
Acc ID: DOID:0080119
Term: mitochondrial DNA depletion syndrome 1
Definition: A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome "DO" "DO", https://ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/19056268 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/20301358 "DO" "DO", https://www.omim.org/entry/603041 "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)
TYMP IAGP 7240710OMIM  
TYMP EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:25741868 PMID:28492532 PMID:32849836
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)PMID:17576681 PMID:28492532 PMID:9536098
TYMP IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)PMID:28492532
TYMP IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: TYMP-related conditionPMID:25741868
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MNGIE, TYMP-RELATEDPMID:25741868 PMID:27104957 PMID:28492532
TYMP IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MNGIE, TYMP-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: TYMP-related conditionPMID:25741868 PMID:28492532
TYMP IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:12529715
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:14720311 PMID:17549623 PMID:19748572 PMID:28492532
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:15742109
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:17437622
TYMP IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:15781193
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:14720311 PMID:28492532 PMID:31885962
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:10852545 PMID:15781193 PMID:20151198 PMID:23341816 PMID:28492532 PMID:9924029
TYMP IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:21933806
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:15505189 PMID:28492532
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)PMID:10852545 PMID:12529715 PMID:15781193 PMID:16199547 PMID:19853446 PMID:24033266 PMID:25741868 PMID:28492532 PMID:9924029
TYMP IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:15781193 PMID:25741868
TYMP IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:19748572
TYMP IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:10852545
TYMP IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:9924029
TYMP IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:14720311
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:12177387
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:15505189 PMID:25741868
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:21933806 PMID:25741868 PMID:28492532
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:25741868 PMID:9924029
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:17294068 PMID:28492532
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:12529715 PMID:15781193 PMID:16199547 PMID:25741868 PMID:28492532 PMID:9924029
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:18280229
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:15781193 PMID:20585803 PMID:21933806 PMID:25741868 PMID:28492532 PMID:28764801 PMID:9924029
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:15781193 PMID:24215330
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:16198108 PMID:17437622 PMID:28492532 PMID:9924029
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:19748572 PMID:21412940 PMID:28492532
TYMP IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:12084896
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:12529715 PMID:28492532
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:21794876 PMID:21820356 PMID:21933806 PMID:25741868 PMID:28492532
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)PMID:17576681 PMID:19056268 PMID:25741868 PMID:28492532 PMID:9536098
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:2005900
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098
TYMP IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 
TYMP IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:15781193 PMID:25741868 PMID:28492532 PMID:9924029
TYMP IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:25741868 PMID:27261974
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:15781193 PMID:16199547 PMID:28492532 PMID:9924029
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:23685548 PMID:25741868 PMID:28492532
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:15781193 PMID:16199547 PMID:25741868 PMID:28492532 PMID:9924029
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: TYMP-related conditionPMID:16198108 PMID:25741868 PMID:28492532
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:23590577 PMID:25741868 PMID:28492532 PMID:36101829 PMID:37334785
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:15781193 PMID:16199547 PMID:19523753 PMID:25741868 PMID:28492532 PMID:9924029
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:15781193 PMID:16199547 PMID:25741868 PMID:28492532 PMID:34926160 PMID:9924029
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:15781193 PMID:16199547 PMID:25741868 PMID:26264513 PMID:28492532 PMID:9924029
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:10852545 PMID:9924029
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)PMID:10852545 PMID:25741868 PMID:28492532 PMID:9924029
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)PMID:14720311 PMID:14757860 PMID:15781193 PMID:16199547 PMID:20232099 PMID:25741868 PMID:28492532 PMID:9924029
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)PMID:10852545 PMID:15781193 PMID:19344718 PMID:20151198 PMID:20301358 PMID:23341816 PMID:23430799 PMID:25741868 PMID:28492532 PMID:9924029
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)PMID:10852545 PMID:16995425 PMID:25741868 PMID:28492532 PMID:33533561 PMID:9924029
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)PMID:16178026 PMID:19748572 PMID:21820356 PMID:22011815 PMID:25741868 PMID:26264513 PMID:28492532 PMID:35085849 PMID:9924029
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:12177387 PMID:28492532
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:16178026 PMID:19748572 PMID:20301358 PMID:21412940 PMID:25741868 PMID:28492532 PMID:30487145 PMID:32849836 PMID:33300680
TYMP IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:16178026
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:16178026 PMID:16971696 PMID:21933806 PMID:25741868 PMID:28492532
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:2005900 PMID:25741868 PMID:26467025 PMID:28492532
TYMP IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)PMID:25741868 PMID:26467025 PMID:28492532
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)PMID:12529715 PMID:25741868 PMID:26467025 PMID:28492532
TYMP IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:23643385 PMID:25741868 PMID:28492532
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