Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.600 GeneticVariation disease CLINVAR
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.600 Biomarker disease GENOMICS_ENGLAND
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
0.600 CausalMutation disease CLINVAR
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
0.600 Biomarker disease GENOMICS_ENGLAND
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
0.400 Biomarker disease HPO
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
0.100 Biomarker phenotype HPO
CUI: C0002871
Disease: Anemia
Anemia
0.100 Biomarker disease HPO
CUI: C0003578
Disease: Apnea
Apnea
0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.100 Biomarker disease HPO
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.100 Biomarker disease HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
0.100 Biomarker group HPO
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.100 Biomarker group HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria
0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia
0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.100 Biomarker disease HPO
CUI: C0015930
Disease: Fetal Distress
Fetal Distress
0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.100 Biomarker phenotype HPO
Sensorineural Hearing Loss (disorder)
0.100 Biomarker disease HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.100 Biomarker group HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
0.100 Biomarker phenotype HPO
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
0.100 Biomarker disease HPO
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.100 Biomarker disease HPO