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GENE - TERM ANNOTATION REPORT

RGD ID: 1350040
Species: Homo sapiens
RGD Object: Gene
Symbol: MT-ATP6
Name: mitochondrially encoded ATP synthase membrane subunit 6
Acc ID: DOID:0111748
Term: mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1
Definition: A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/1550128 "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)
MT-ATP6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:1436530 PMID:14998933 PMID:1539598 PMID:1550128 PMID:17452590 PMID:19667215 PMID:19875463 PMID:2137962 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875
MT-ATP6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1PMID:11916326 PMID:16049925 PMID:18055910 PMID:25741868 PMID:32906214 PMID:3612192 PMID:8190310 PMID:8395787 PMID:8602753 PMID:8644724 PMID:8750605 PMID:9568930 PMID:9762610
MT-ATP6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1PMID:19160410 PMID:20056103 PMID:25741868 PMID:7668837 PMID:9270604 PMID:9501263 PMID:9631394
MT-ATP6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1PMID:16217706 PMID:17352390 PMID:18461509 PMID:22933740 PMID:25741868
MT-ATP6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1PMID:11119722 PMID:11245730 PMID:11382202 PMID:11731285 PMID:19160410 PMID:19454486 PMID:25741868
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