|
| Entrez Id: |
5428 |
| Gene Symbol: |
POLG |
POLG
|
0.500 |
CausalMutation
|
group |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
|
| Entrez Id: |
4508 |
| Gene Symbol: |
ATP6 |
ATP6
|
0.180 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
56652 |
| Gene Symbol: |
TWNK |
TWNK
|
0.170 |
CausalMutation
|
group |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
|
| Entrez Id: |
4567 |
| Gene Symbol: |
TRNL1 |
TRNL1
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis.
|
15372523 |
2004 |
|
| Entrez Id: |
50484 |
| Gene Symbol: |
RRM2B |
RRM2B
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
|
| Entrez Id: |
4567 |
| Gene Symbol: |
TRNL1 |
TRNL1
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.
|
11085913 |
2001 |
|
| Entrez Id: |
4976 |
| Gene Symbol: |
OPA1 |
OPA1
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
|
| Entrez Id: |
291 |
| Gene Symbol: |
SLC25A4 |
SLC25A4
|
0.140 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
51067 |
| Gene Symbol: |
YARS2 |
YARS2
|
0.130 |
CausalMutation
|
group |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
|
| Entrez Id: |
4513 |
| Gene Symbol: |
COX2 |
COX2
|
0.120 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
2671 |
| Gene Symbol: |
GFER |
GFER
|
0.120 |
CausalMutation
|
group |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
|
| Entrez Id: |
4566 |
| Gene Symbol: |
TRNK |
TRNK
|
0.120 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
6687 |
| Gene Symbol: |
SPG7 |
SPG7
|
0.120 |
CausalMutation
|
group |
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
|
| Entrez Id: |
7156 |
| Gene Symbol: |
TOP3A |
TOP3A
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.
|
29290614 |
2018 |
|
| Entrez Id: |
84340 |
| Gene Symbol: |
GFM2 |
GFM2
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.
|
29075935 |
2017 |
|
| Entrez Id: |
55005 |
| Gene Symbol: |
RMND1 |
RMND1
|
0.110 |
CausalMutation
|
group |
CLINVAR |
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.
|
27412952 |
2016 |
|
| Entrez Id: |
4576 |
| Gene Symbol: |
TRNT |
TRNT
|
0.110 |
CausalMutation
|
group |
CLINVAR |
CO2-sensitive tRNA modification associated with human mitochondrial disease.
|
29760464 |
2018 |
|
| Entrez Id: |
54931 |
| Gene Symbol: |
TRMT10C |
TRMT10C
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.
|
27132592 |
2016 |
|
| Entrez Id: |
513 |
| Gene Symbol: |
ATP5F1D |
ATP5F1D
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
|
29478781 |
2018 |
|
| Entrez Id: |
4576 |
| Gene Symbol: |
TRNT |
TRNT
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.
|
30236074 |
2018 |
|
| Entrez Id: |
4576 |
| Gene Symbol: |
TRNT |
TRNT
|
0.110 |
CausalMutation
|
group |
CLINVAR |
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.
|
22638997 |
2012 |
|
TMEM126B
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
|
27374774 |
2016 |
|
| Entrez Id: |
4576 |
| Gene Symbol: |
TRNT |
TRNT
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Mitochondrial disorder associated with newborn cardiopulmonary arrest.
|
8511015 |
1993 |
|
| Entrez Id: |
91689 |
| Gene Symbol: |
SMDT1 |
SMDT1
|
0.100 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
| Entrez Id: |
4540 |
| Gene Symbol: |
ND5 |
ND5
|
0.100 |
CausalMutation
|
group |
CLINVAR |
|
|
|