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GENE - TERM ANNOTATION REPORT

RGD ID: 1619218
Species: Mus musculus
RGD Object: Gene
Symbol: Ncaph2
Name: non-SMC condensin II complex, subunit H2
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)
Ncaph2 ISONCAPH2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1PMID:23643385 PMID:25741868 PMID:28492532
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