ATP8, ATP synthase F0 subunit 8, 4509

N. diseases: 43; N. variants: 66
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474826
rs199474826
Entrez Id: 4508;4509;4513;4514
Gene Symbol: ATP6;ATP8;COX2;COX3
ATP6;ATP8;COX2;COX3
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.800 GeneticVariation UNIPROT
dbSNP: rs199474826
rs199474826
Entrez Id: 4508;4509;4513;4514
Gene Symbol: ATP6;ATP8;COX2;COX3
ATP6;ATP8;COX2;COX3
CUI: C0009402
Disease:
Colorectal Carcinoma 		A 0.800 CausalMutation CLINVAR
dbSNP: rs199474827
rs199474827
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency 		A 0.800 CausalMutation CLINVAR
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C1838916
Disease:
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET 		C 0.800 CausalMutation CLINVAR
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C3275684
Disease:
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs199476133
rs199476133
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C3275684
Disease:
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs267606884
rs267606884
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C0009402
Disease:
Colorectal Carcinoma 		C 0.800 CausalMutation CLINVAR
dbSNP: rs387906422
rs387906422
Entrez Id: 4508;4509;4513;4514;4537;4539
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;ND4L
ATP6;ATP8;COX2;COX3;ND3;ND4L
CUI: C2748884
Disease:
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 		C 0.800 CausalMutation CLINVAR
dbSNP: rs794726857
rs794726857
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C4225415
Disease:
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 		0.800 GeneticVariation UNIPROT
dbSNP: rs794726857
rs794726857
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C4225415
Disease:
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 		A 0.800 CausalMutation CLINVAR
dbSNP: rs111033319
rs111033319
Entrez Id: 4508;4509;4512;4513;4514;4574
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3;TRNS1
ATP6;ATP8;COX1;COX2;COX3;TRNS1
CUI: C4016626
Disease:
MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY 		AC 0.700 CausalMutation CLINVAR
dbSNP: rs111033319
rs111033319
Entrez Id: 4508;4509;4512;4513;4514;4574
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3;TRNS1
ATP6;ATP8;COX1;COX2;COX3;TRNS1
CUI: C3151975
Disease:
DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES 		AC 0.700 CausalMutation CLINVAR
dbSNP: rs1131692064
rs1131692064
Entrez Id: 4508;4509;4513;4514
Gene Symbol: ATP6;ATP8;COX2;COX3
ATP6;ATP8;COX2;COX3
CUI: C0751651
Disease:
Mitochondrial Diseases 		C 0.700 CausalMutation CLINVAR
dbSNP: rs118192098
rs118192098
Entrez Id: 4508;4509;4513;4514;4537;4566
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;TRNK
ATP6;ATP8;COX2;COX3;ND3;TRNK
CUI: C0751651
Disease:
Mitochondrial Diseases 		G 0.700 CausalMutation CLINVAR
dbSNP: rs118192098
rs118192098
Entrez Id: 4508;4509;4513;4514;4537;4566
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;TRNK
ATP6;ATP8;COX2;COX3;ND3;TRNK
CUI: C1838867
Disease:
PARKINSON DISEASE, MITOCHONDRIAL (disorder) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs118192099
rs118192099
Entrez Id: 4508;4509;4513;4514;4537;4566
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;TRNK
ATP6;ATP8;COX2;COX3;ND3;TRNK
CUI: C0162672
Disease:
MERRF Syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs118192099
rs118192099
Entrez Id: 4508;4509;4513;4514;4537;4566
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;TRNK
ATP6;ATP8;COX2;COX3;ND3;TRNK
CUI: C3151970
Disease:
MERRF/MELAS OVERLAP SYNDROME 		C 0.700 CausalMutation CLINVAR
dbSNP: rs118192100
rs118192100
Entrez Id: 4508;4509;4513;4514;4537;4566
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;TRNK
ATP6;ATP8;COX2;COX3;ND3;TRNK
CUI: C4016620
Disease:
CARDIOMYOPATHY AND DEAFNESS 		A 0.700 CausalMutation CLINVAR
dbSNP: rs118192100
rs118192100
Entrez Id: 4508;4509;4513;4514;4537;4566
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;TRNK
ATP6;ATP8;COX2;COX3;ND3;TRNK
CUI: C0162672
Disease:
MERRF Syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs118192101
rs118192101
Entrez Id: 4508;4509;4513;4514;4537;4566
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;TRNK
ATP6;ATP8;COX2;COX3;ND3;TRNK
CUI: C4551995
Disease:
Mitochondrial DNA Depletion Syndrome 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs118192103
rs118192103
Entrez Id: 4508;4509;4513;4514;4537;4566
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;TRNK
ATP6;ATP8;COX2;COX3;ND3;TRNK
CUI: C4016622
Disease:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121434454
rs121434454
Entrez Id: 4508;4509;4512;4513;4514;4555
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3;TRND
ATP6;ATP8;COX1;COX2;COX3;TRND
CUI: C4016606
Disease:
MITOCHONDRIAL MYOPATHY, ISOLATED 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1556423388
rs1556423388
Entrez Id: 4508;4509;4513;4514;4537
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3
ATP6;ATP8;COX2;COX3;ND3
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1556423547
rs1556423547
Entrez Id: 4508;4509;4514;4537;4538;4539
Gene Symbol: ATP6;ATP8;COX3;ND3;ND4;ND4L
ATP6;ATP8;COX3;ND3;ND4;ND4L
CUI: C0751651
Disease:
Mitochondrial Diseases 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1569484091
rs1569484091
Entrez Id: 4508;4509;4512;4513
Gene Symbol: ATP6;ATP8;COX1;COX2
ATP6;ATP8;COX1;COX2
CUI: C4531094
Disease:
Abnormal mitral valve physiology 		T 0.700 CausalMutation CLINVAR