Entrez Id: |
6949 |
Gene Symbol: |
TCOF1 |
TCOF1
|
Franceschetti-Klein syndrome
|
0.300 |
Biomarker |
CLINGEN |
TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect.
|
31307516 |
2019 |
Entrez Id: |
6323 |
Gene Symbol: |
SCN1A |
SCN1A
|
Early infantile epileptic encephalopathy with suppression bursts
|
0.300 |
Biomarker |
CLINGEN |
SCN1A gain of function in early infantile encephalopathy.
|
30779207 |
2019 |
Entrez Id: |
4723 |
Gene Symbol: |
NDUFV1 |
NDUFV1
|
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.300 |
Biomarker |
CLINGEN |
A Drosophila Mitochondrial Complex I Deficiency Phenotype Array.
|
30972103 |
2019 |
Entrez Id: |
55572 |
Gene Symbol: |
FOXRED1 |
FOXRED1
|
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.300 |
Biomarker |
CLINGEN |
Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency.
|
31065540 |
2019 |
Entrez Id: |
55572 |
Gene Symbol: |
FOXRED1 |
FOXRED1
|
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.300 |
Biomarker |
CLINGEN |
FOXRED1 silencing in mice: a possible animal model for Leigh syndrome.
|
30392038 |
2019 |
Entrez Id: |
374291 |
Gene Symbol: |
NDUFS7 |
NDUFS7
|
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.300 |
Biomarker |
CLINGEN |
A Drosophila Mitochondrial Complex I Deficiency Phenotype Array.
|
30972103 |
2019 |
Entrez Id: |
4723 |
Gene Symbol: |
NDUFV1 |
NDUFV1
|
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.300 |
Biomarker |
CLINGEN |
Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia.
|
30090137 |
2019 |
Entrez Id: |
55037 |
Gene Symbol: |
PTCD3 |
PTCD3
|
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.300 |
Biomarker |
CLINGEN |
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.
|
30607703 |
2019 |
Entrez Id: |
55572 |
Gene Symbol: |
FOXRED1 |
FOXRED1
|
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
|
0.300 |
Biomarker |
CLINGEN |
Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency.
|
31065540 |
2019 |
Entrez Id: |
4723 |
Gene Symbol: |
NDUFV1 |
NDUFV1
|
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
|
0.300 |
Biomarker |
CLINGEN |
A Drosophila Mitochondrial Complex I Deficiency Phenotype Array.
|
30972103 |
2019 |
Entrez Id: |
4723 |
Gene Symbol: |
NDUFV1 |
NDUFV1
|
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
|
0.300 |
Biomarker |
CLINGEN |
Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia.
|
30090137 |
2019 |
Entrez Id: |
374291 |
Gene Symbol: |
NDUFS7 |
NDUFS7
|
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
|
0.300 |
Biomarker |
CLINGEN |
A Drosophila Mitochondrial Complex I Deficiency Phenotype Array.
|
30972103 |
2019 |
Entrez Id: |
55037 |
Gene Symbol: |
PTCD3 |
PTCD3
|
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
|
0.300 |
Biomarker |
CLINGEN |
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.
|
30607703 |
2019 |
Entrez Id: |
55572 |
Gene Symbol: |
FOXRED1 |
FOXRED1
|
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
|
0.300 |
Biomarker |
CLINGEN |
FOXRED1 silencing in mice: a possible animal model for Leigh syndrome.
|
30392038 |
2019 |
Entrez Id: |
4723 |
Gene Symbol: |
NDUFV1 |
NDUFV1
|
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
0.300 |
Biomarker |
CLINGEN |
A Drosophila Mitochondrial Complex I Deficiency Phenotype Array.
|
30972103 |
2019 |
Entrez Id: |
374291 |
Gene Symbol: |
NDUFS7 |
NDUFS7
|
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
0.300 |
Biomarker |
CLINGEN |
A Drosophila Mitochondrial Complex I Deficiency Phenotype Array.
|
30972103 |
2019 |
Entrez Id: |
55572 |
Gene Symbol: |
FOXRED1 |
FOXRED1
|
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
0.300 |
Biomarker |
CLINGEN |
FOXRED1 silencing in mice: a possible animal model for Leigh syndrome.
|
30392038 |
2019 |
Entrez Id: |
55572 |
Gene Symbol: |
FOXRED1 |
FOXRED1
|
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
0.300 |
Biomarker |
CLINGEN |
Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency.
|
31065540 |
2019 |
Entrez Id: |
4723 |
Gene Symbol: |
NDUFV1 |
NDUFV1
|
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
0.300 |
Biomarker |
CLINGEN |
Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia.
|
30090137 |
2019 |
Entrez Id: |
55037 |
Gene Symbol: |
PTCD3 |
PTCD3
|
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
0.300 |
Biomarker |
CLINGEN |
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.
|
30607703 |
2019 |
Entrez Id: |
55037 |
Gene Symbol: |
PTCD3 |
PTCD3
|
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
|
0.300 |
Biomarker |
CLINGEN |
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.
|
30607703 |
2019 |
Entrez Id: |
374291 |
Gene Symbol: |
NDUFS7 |
NDUFS7
|
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
|
0.300 |
Biomarker |
CLINGEN |
A Drosophila Mitochondrial Complex I Deficiency Phenotype Array.
|
30972103 |
2019 |
Entrez Id: |
4723 |
Gene Symbol: |
NDUFV1 |
NDUFV1
|
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
|
0.300 |
Biomarker |
CLINGEN |
Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia.
|
30090137 |
2019 |
Entrez Id: |
55572 |
Gene Symbol: |
FOXRED1 |
FOXRED1
|
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
|
0.300 |
Biomarker |
CLINGEN |
FOXRED1 silencing in mice: a possible animal model for Leigh syndrome.
|
30392038 |
2019 |
Entrez Id: |
4723 |
Gene Symbol: |
NDUFV1 |
NDUFV1
|
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
|
0.300 |
Biomarker |
CLINGEN |
A Drosophila Mitochondrial Complex I Deficiency Phenotype Array.
|
30972103 |
2019 |