Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
0.100 Biomarker disease HPO
Congenital absence of kidneys syndrome
0.100 Biomarker disease HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.100 Biomarker disease HPO
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
0.100 Biomarker disease HPO
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia
0.100 Biomarker disease HPO
CUI: C4021243
Disease: Abnormality of thalamus morphology
Abnormality of thalamus morphology
0.100 Biomarker disease HPO
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities
0.100 Biomarker disease HPO
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex
0.100 Biomarker disease HPO
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology
0.100 Biomarker disease HPO
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 AlteredExpression disease BEFREE Reduced levels of mitochondrial complex I subunit NDUFB8 and linked complex I + III oxidoreductase activity in the TgCRND8 mouse model of Alzheimer's disease. 24217272 2014
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
0.010 Biomarker disease BEFREE PTEN and NDUFB8 aberrations in cervical cancer tissue. 17727244 2007
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia
0.010 AlteredExpression disease BEFREE NDUFB8 (complex I subunit), SDHB (complex II subunit), UQCRC2 (complex III subunit), COX2 (complex IV subunit), and ATP50 (complex V subunit) expression levels, as revealed by western blotting, were reduced in FFI. 27338255 2017
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.010 Biomarker disease BEFREE PTEN and NDUFB8 aberrations in cervical cancer tissue. 17727244 2007
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
0.010 AlteredExpression disease BEFREE Complementation studies by expression of wild-type NDUFB8 in cells from affected individuals restored mitochondrial function, confirming NDUFB8 variants as the cause of complex I deficiency. 29429571 2018
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
0.010 AlteredExpression disease BEFREE However, there were no significant associations between the expression of NDUFB8 and ATP5B with overall survival of NPC patients. 31723016 2020
CUI: C4048328
Disease: cervical cancer
cervical cancer
0.010 Biomarker disease BEFREE PTEN and NDUFB8 aberrations in cervical cancer tissue. 17727244 2007
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