Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6949
Gene Symbol: TCOF1
TCOF1
CUI: C0265241
Disease: Franceschetti-Klein syndrome
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
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
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
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
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
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
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
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
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
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
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
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
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
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
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
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
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
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
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
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
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
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
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
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
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
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
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
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
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
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
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
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
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
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
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
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
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
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
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
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
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
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
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
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
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
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
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
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker CLINGEN A Drosophila Mitochondrial Complex I Deficiency Phenotype Array. 30972103

2019