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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:700
Term: mitochondrial metabolism disease
Definition: An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Mitochondrial_disease "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 diseasePMID:25037980 PMID:27812026 PMID:29350304
MT-ATP6 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial diseasePMID:25741868 PMID:32906214
MT-ATP6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial diseasePMID:28027978
MT-ATP6 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial diseasePMID:32906214
MT-ATP6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial diseasePMID:15120634 PMID:25741868 PMID:32906214
MT-ATP6 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)8554872ClinVarClinVar Annotator: match by term: Mitochondrial disease 
MT-ATP6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial diseasePMID:20301382
MT-ATP6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial disorderPMID:19626676 PMID:22577227 PMID:25741868 PMID:31187502 PMID:31379041 PMID:31461494 PMID:32042921 PMID:35159298
MT-ATP6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial diseasePMID:24986921 PMID:32581362
MT-ATP6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial diseasePMID:24104924 PMID:25489354 PMID:32461654
MT-ATP6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial diseasePMID:19188198 PMID:26803244
MT-ATP6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial diseasePMID: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 diseasePMID: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 diseasePMID:19160410 PMID:20056103 PMID:25741868 PMID:7668837 PMID:9270604 PMID:9501263 PMID:9631394
MT-ATP6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial diseasePMID:17663470 PMID:22789932 PMID:23206802 PMID:24002810 PMID:25741868 PMID:31181185 PMID:8554662
MT-ATP6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial diseasePMID:12915481 PMID:8739943
MT-ATP6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial diseasePMID:16217706 PMID:17352390 PMID:18461509 PMID:22933740 PMID:25741868
MT-ATP6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial diseasePMID:11119722 PMID:11245730 PMID:11382202 PMID:11731285 PMID:19160410 PMID:19454486 PMID:25741868
MT-ATP6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial diseasePMID:24316278
MT-ATP6 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial diseasePMID:24118886
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