ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs724159989
rs724159989
Entrez Id: 4508;4509;4512;4513;4514;4574
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3;TRNS1
ATP6;ATP8;COX1;COX2;COX3;TRNS1
CUI: C3151897
Disease:
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		C 0.700 CausalMutation CLINVAR Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family. 20153673 2010
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: C0162672
Disease:
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys. 19269823 2009
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: C1708371
Disease:
Histiocytoid Cardiomyopathy 		C 0.700 CausalMutation CLINVAR Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. 19188198 2009
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: C0162672
Disease:
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR Unusual presentations of patients with the mitochondrial MERRF mutation A8344G. 18657354 2008
dbSNP: rs199474818
rs199474818
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C3151897
Disease:
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		C 0.700 CausalMutation CLINVAR Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss. 18639500 2008
dbSNP: rs199474818
rs199474818
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C3151897
Disease:
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		T 0.700 CausalMutation CLINVAR Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss. 18639500 2008
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: C0162672
Disease:
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR MERRF syndrome without ragged-red fibers: the need for molecular diagnosis. 17275787 2007
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: C0162672
Disease:
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. 17200493 2007
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: C0162672
Disease:
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation. 17293137 2007
dbSNP: rs199474818
rs199474818
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C3151897
Disease:
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		C 0.700 CausalMutation CLINVAR Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss. 17659260 2007
dbSNP: rs199474818
rs199474818
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C3151897
Disease:
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		T 0.700 CausalMutation CLINVAR Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss. 17659260 2007
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: C0162672
Disease:
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case. 16551460 2006
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: C3151897
Disease:
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		AC 0.700 CausalMutation CLINVAR Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. 15292920 2005
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: C0162672
Disease:
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation. 15164143 2005
dbSNP: rs1556423632
rs1556423632
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		C 0.700 CausalMutation CLINVAR Two new mutations in the MTATP6 gene associated with Leigh syndrome. 16217706 2005
dbSNP: rs387906419
rs387906419
Entrez Id: 4508;4509;4512;4513;4514;4574
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3;TRNS1
ATP6;ATP8;COX1;COX2;COX3;TRNS1
CUI: C0162671
Disease:
MELAS Syndrome 		A 0.700 CausalMutation CLINVAR A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations. 16199753 2005
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: C0162672
Disease:
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA. 12784281 2003
dbSNP: rs118192104
rs118192104
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 The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene. 14681892 2003
dbSNP: rs387906419
rs387906419
Entrez Id: 4508;4509;4512;4513;4514;4574
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3;TRNS1
ATP6;ATP8;COX1;COX2;COX3;TRNS1
CUI: C0162671
Disease:
MELAS Syndrome 		A 0.700 CausalMutation CLINVAR Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene. 14605505 2003
dbSNP: rs199474820
rs199474820
Entrez Id: 4508;4509;4512;4513;4514;4574
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3;TRNS1
ATP6;ATP8;COX1;COX2;COX3;TRNS1
CUI: C3151897
Disease:
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		C 0.700 CausalMutation CLINVAR Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene. 12471220 2002
dbSNP: rs267606615
rs267606615
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C3151898
Disease:
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		A 0.700 CausalMutation CLINVAR Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. 12414820 2002
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: C0023264
Disease:
Leigh Disease 		A 0.700 CausalMutation CLINVAR G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome. 11108511 2000
dbSNP: rs199474820
rs199474820
Entrez Id: 4508;4509;4512;4513;4514;4574
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3;TRNS1
ATP6;ATP8;COX1;COX2;COX3;TRNS1
CUI: C3151897
Disease:
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		C 0.700 CausalMutation CLINVAR A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment. 10978361 2000
dbSNP: rs267606614
rs267606614
Entrez Id: 4508;4514;4537;4538;4539
Gene Symbol: ATP6;COX3;ND3;ND4;ND4L
ATP6;COX3;ND3;ND4;ND4L
CUI: C0023264
Disease:
Leigh Disease 		AC 0.700 CausalMutation CLINVAR A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. 11063732 2000
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: C3151897
Disease:
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		AC 0.700 CausalMutation CLINVAR Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene. 10094190 1999