Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748839
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 		0.600 Biomarker disease GENOMICS_ENGLAND NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. 29429571 2018
CUI: C4748839
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 		0.600 Biomarker disease GENOMICS_ENGLAND New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 27290639 2016
CUI: C4748839
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 		0.600 GeneticVariation disease UNIPROT NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. 29429571 2018
CUI: C4748839
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 		0.600 CausalMutation disease CLINVAR
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.310 GeneticVariation disease BEFREE NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. 29429571 2018
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.310 Biomarker disease GENOMICS_ENGLAND NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. 29429571 2018
CUI: C0274861
Disease: Arsenic Poisoning, Inorganic
Arsenic Poisoning, Inorganic 		0.300 Biomarker disease CTD_human Gene expression profiles in peripheral lymphocytes by arsenic exposure and skin lesion status in a Bangladeshi population. 16835338 2006
CUI: C0274862
Disease: Nervous System, Organic Arsenic Poisoning
Nervous System, Organic Arsenic Poisoning 		0.300 Biomarker disease CTD_human Gene expression profiles in peripheral lymphocytes by arsenic exposure and skin lesion status in a Bangladeshi population. 16835338 2006
CUI: C0311375
Disease: Arsenic Poisoning
Arsenic Poisoning 		0.300 Biomarker disease CTD_human Gene expression profiles in peripheral lymphocytes by arsenic exposure and skin lesion status in a Bangladeshi population. 16835338 2006
CUI: C0751851
Disease: Arsenic Encephalopathy
Arsenic Encephalopathy 		0.300 Biomarker disease CTD_human Gene expression profiles in peripheral lymphocytes by arsenic exposure and skin lesion status in a Bangladeshi population. 16835338 2006
CUI: C0751852
Disease: Arsenic Induced Polyneuropathy
Arsenic Induced Polyneuropathy 		0.300 Biomarker disease CTD_human Gene expression profiles in peripheral lymphocytes by arsenic exposure and skin lesion status in a Bangladeshi population. 16835338 2006
CUI: C0243026
Disease: Sepsis
Sepsis 		0.200 Biomarker disease RGD Sepsis-induced cardiac mitochondrial dysfunction involves altered mitochondrial-localization of tyrosine kinase Src and tyrosine phosphatase SHP2. 22952679 2012
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury 		0.200 Biomarker disease RGD Persistent disruption of mitochondrial homeostasis after acute kidney injury. 22160772 2012
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.100 Biomarker disease HPO
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.100 Biomarker disease HPO
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.100 Biomarker disease HPO
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0234649
Disease: Abnormal saccadic eye movement
Abnormal saccadic eye movement 		0.100 Biomarker disease HPO
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO