Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		0.100 GeneticVariation group GWASCAT Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease. 27082954 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE In this study, we used quantitative proteomic analyses to compare a highly metastatic cancer cell line and a parental breast cancer cell line; and observed that NDUFB9, an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I), was down-regulated in highly metastatic breast cancer cells. 26641458 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE In this study, we used quantitative proteomic analyses to compare a highly metastatic cancer cell line and a parental breast cancer cell line; and observed that NDUFB9, an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I), was down-regulated in highly metastatic breast cancer cells. 26641458 2015
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE Furthermore, we demonstrated that loss of NDUFB9 promotes MDA-MB-231 cells proliferation, migration, and invasion because of elevated levels of mtROS, disturbance of the NAD+/NADH balance, and depletion of mtDNA. 26641458 2015
CUI: C1708371
Disease: Histiocytoid Cardiomyopathy
Histiocytoid Cardiomyopathy 		0.010 Biomarker disease BEFREE A third proband was doubly heterozygous for inherited rare variants in additional components of complex I, NDUFAF2 and NDUFB9, confirming that Histiocytoid CM is genetically heterogeneous. 25921236 2015
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 GermlineCausalMutation disease ORPHANET Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. 22200994 2012
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.500 Biomarker disease GENOMICS_ENGLAND Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. 22200994 2012
CUI: C4748803
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 		0.500 GeneticVariation disease UNIPROT Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. 22200994 2012
CUI: C4748803
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 		0.500 Biomarker disease GENOMICS_ENGLAND Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. 22200994 2012
CUI: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 		0.010 GeneticVariation disease BEFREE Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. 22200994 2012
CUI: C0043094
Disease: Weight Gain
Weight Gain 		0.300 Biomarker phenotype CTD_human Different transcriptional control of metabolism and extracellular matrix in visceral and subcutaneous fat of obese and rimonabant treated mice. 19030233 2008
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.010 GeneticVariation disease BEFREE To identify whether mutations in NDUFB9 are involved in causing the BOR syndrome, we screened 9 BOR families which did not show mutations in the EYA1 gene by heteroduplex analysis; however, no mutations were found. 10077726 1999
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.100 Biomarker group 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
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.100 Biomarker disease HPO
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 Biomarker phenotype HPO
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.100 Biomarker disease HPO