Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		0.300 Biomarker group CTD_human Gene expression profiles in peripheral lymphocytes by arsenic exposure and skin lesion status in a Bangladeshi population. 16835338 2006
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 Biomarker group HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.100 Biomarker group HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.100 Biomarker group HPO
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.020 Biomarker group BEFREE New MD-related candidate gene (NDUFB8) is under verification. 27290639 2016
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.020 Biomarker group BEFREE Hereby we establish NDUFB8 as a relevant gene in childhood-onset mitochondrial disease. 29429571 2018
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.010 Biomarker group BEFREE Mutations in NDUFV2, NDUFAF5, NDUFB8, or GLRX5 were first found to be related to cavitating leukoencephalopathies. 30770271 2019
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		0.100 Biomarker phenotype HPO
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0008489
Disease: Chorea
Chorea 		0.100 Biomarker phenotype HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.100 Biomarker phenotype HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.100 Biomarker phenotype HPO
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		0.100 Biomarker phenotype HPO
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		0.100 Biomarker phenotype HPO
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.100 Biomarker phenotype HPO
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		0.100 Biomarker phenotype HPO
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		0.100 Biomarker phenotype HPO