TRNE, tRNA, 4556

N. diseases: 83; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906421
rs387906421
Entrez Id: 4519;4541;4556
Gene Symbol: CYTB;ND6;TRNE
CYTB;ND6;TRNE
CUI: C0162671
Disease:
MELAS Syndrome 		C 0.700 GeneticVariation CLINVAR Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. 19720722 2009
dbSNP: rs121434453
rs121434453
Entrez Id: 4519;4541;4556
Gene Symbol: CYTB;ND6;TRNE
CYTB;ND6;TRNE
CUI: C0162671
Disease:
MELAS Syndrome 		C 0.700 GeneticVariation CLINVAR Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus. 7726154 1995
dbSNP: rs121434453
rs121434453
Entrez Id: 4519;4541;4556
Gene Symbol: CYTB;ND6;TRNE
CYTB;ND6;TRNE
CUI: C0751651
Disease:
Mitochondrial Diseases 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121434453
rs121434453
Entrez Id: 4519;4541;4556
Gene Symbol: CYTB;ND6;TRNE
CYTB;ND6;TRNE
CUI: C4016608
Disease:
MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121434453
rs121434453
Entrez Id: 4519;4541;4556
Gene Symbol: CYTB;ND6;TRNE
CYTB;ND6;TRNE
CUI: C0342289
Disease:
Diabetes-deafness syndrome maternally transmitted (disorder) 		C 0.700 CausalMutation CLINVAR
dbSNP: rs387906421
rs387906421
Entrez Id: 4519;4541;4556
Gene Symbol: CYTB;ND6;TRNE
CYTB;ND6;TRNE
CUI: C0751651
Disease:
Mitochondrial Diseases 		C 0.700 CausalMutation CLINVAR
dbSNP: rs387906421
rs387906421
Entrez Id: 4519;4541;4556
Gene Symbol: CYTB;ND6;TRNE
CYTB;ND6;TRNE
CUI: C3151898
Disease:
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		G 0.700 CausalMutation CLINVAR
dbSNP: rs387906421
rs387906421
Entrez Id: 4519;4541;4556
Gene Symbol: CYTB;ND6;TRNE
CYTB;ND6;TRNE
CUI: C3151898
Disease:
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		C 0.700 CausalMutation CLINVAR
dbSNP: rs527236202
rs527236202
Entrez Id: 4519;4541;4556
Gene Symbol: CYTB;ND6;TRNE
CYTB;ND6;TRNE
CUI: C0006142
Disease:
Malignant neoplasm of breast 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs879192165
rs879192165
Entrez Id: 4519;4541;4556
Gene Symbol: CYTB;ND6;TRNE
CYTB;ND6;TRNE
CUI: C0342289
Disease:
Diabetes-deafness syndrome maternally transmitted (disorder) 		G 0.700 CausalMutation CLINVAR