Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation disease BEFREE These include the severe mutation in the tRNALys gene, m.8363G>A, and the three milder yet prevalent Leber's hereditary optic neuropathy (LHON) mutations in the MT-ND1 (m.3460G>A), MT-ND4 (m.11778G>A) and MT-ND6 (m.14484T>C) mitochondrial genes. 25909222 2015
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation disease BEFREE Leber hereditary optic neuropathy (LHON) has been associated with a mitochondrial mutation at position 11,778 in the ND4 gene in about 50% of families. 8448903 1993
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.150 GeneticVariation disease BEFREE We report a case of 3-year-old boy who presented with Leigh syndrome but carried a mitochondrial G11778A mutation in the fourth subunit of the NADH dehydrogenase gene (MTND4). 24062162 2014
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.150 GeneticVariation disease BEFREE Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome. 27761019 2017
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.150 GeneticVariation disease BEFREE Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome. 17022785 2006
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.150 GeneticVariation disease BEFREE Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R340H) in the MTND4 gene usually observed in patients with LHON. 21414825 2011
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.150 GeneticVariation disease BEFREE After autopsy, the diagnosis of Leigh syndrome was established; using DNA isolated from skeletal muscle and liver, heteroplasmic (>50%) mitochondrial 11777C>A was detected in the fourth subunit of NADH dehydrogenase enzyme (MTND4) encoding gene, which causes Arg --> Ser replacement. 20502985 2010
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		0.130 GeneticVariation phenotype BEFREE Of other variants, the homoplasmic G11696A mutation in the ND4 gene is of special interest as it was implicated to be associated with LHON in a large Dutch family and five Chinese pedigrees with extremely penetrance of visual loss. 17300996 2007
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		0.130 GeneticVariation phenotype BEFREE Mutant NADH dehydrogenase subunit 4 gene delivery to mitochondria by targeting sequence-modified adeno-associated virus induces visual loss and optic atrophy in mice. 22773905 2012
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		0.130 GeneticVariation phenotype BEFREE In particular, these mitochondrial haplogroup specific variants: m.3394T>C (MT-ND1), m.14502T>C (MT-ND4) and m.14693A>G (MT-TE) enhanced the penetrance of visual loss in these Chinese families. 23665487 2013
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.110 GeneticVariation phenotype BEFREE However, RRF and lactic acidosis are absent in Leber hereditary optic neuropathy (LHON) (one point mutation affecting ND4 gene, two point mutations affecting ND1 gene, and one point mutation affecting the apocytochrome b subunit of complex III), and the condition associated with maternally inherited sensory neuropathy (N), ataxia (A), retinitis pigmentosa (RP), developmental delay, dementia, seizures, and limb weakness (NARP) (point mutation affecting ATPase subunit 6 gene). 8338207 1993
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 GeneticVariation phenotype BEFREE Two homoplasmic pathogenic variants (m.9035T>C and m.11778G>A) were identified in 2 out of 928 unrelated individuals (0.2%): the m.9035T>C (MT-ATP6) variant in a female with ataxia and the m.11778G>A (MT-ND4) variant in a male with a complex mosaic disorder and a severe ophthalmological phenotype, uncovering undiagnosed Leber's hereditary optic neuropathy (LHON). 31379041 2019
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.110 GeneticVariation disease BEFREE Mutant NADH dehydrogenase subunit 4 gene delivery to mitochondria by targeting sequence-modified adeno-associated virus induces visual loss and optic atrophy in mice. 22773905 2012
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		0.110 GeneticVariation group BEFREE It is shown here, however, that neither this biochemical lesion nor the optic neuropathy are due to the mutation at nucleotide position 11,778 of the mitochondrial ND4 gene first identified by Wallace et al. in several LHON pedigrees. 2121024 1990
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.110 GeneticVariation group BEFREE One of the probes (ND4 probe) detected transcripts of a segment of the NADH dehydrogenase subunit 4 gene, which is known to be affected in most cases of mitochondrial myopathy with large deletions of mtDNA. 8384916 1993
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 AlteredExpression disease BEFREE ND2 and ND4 gene expressions were significantly decreased in patients with AD. p53-ChIP analysis verified the presence of p53-binding elements in the human mitochondrial genome and increased p53 occupancy of mitochondrial DNA in AD. 29130578 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 AlteredExpression disease BEFREE The level of ND4 message in temporal cortex of control subjects was higher than in motor cortex, whereas the level of ND4 gene expression in temporal cortex of AD brains was decreased compared with that in temporal cortex of controls. 8725003 1996
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 Biomarker disease BEFREE Similarly, a larger number of MDD and SCH patients tended to have the MT-ND4 gene deleted compared with BD and C subjects. 23355257 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 GeneticVariation disease BEFREE However, the aim of this study is to evaluate the genetic region of NADH dehydrogenase subunit 4 in patients with breast cancer. 30227369 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 GeneticVariation phenotype BEFREE Two homoplasmic pathogenic variants (m.9035T>C and m.11778G>A) were identified in 2 out of 928 unrelated individuals (0.2%): the m.9035T>C (MT-ATP6) variant in a female with ataxia and the m.11778G>A (MT-ND4) variant in a male with a complex mosaic disorder and a severe ophthalmological phenotype, uncovering undiagnosed Leber's hereditary optic neuropathy (LHON). 31379041 2019
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 GeneticVariation disease BEFREE For the first time, we observed an association between the MT-ND4 11719 A/G polymorphism and UC. 27716073 2016
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.010 AlteredExpression disease BEFREE The differential expression of MT-ND4 in CF was confirmed by RT-PCR. 17382898 2007
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.010 GeneticVariation group BEFREE The results revealed 39 mutations in the three esophageal cancer cell lines; the genes with the highest mutation frequencies included mitochondrially encoded cytochrome B (MT‑CYTB), NADH dehydrogenase 5 (MT‑ND5) and MT‑ND4 gene. 28990096 2017
CUI: C0015403
Disease: Eye Infection
Eye Infection 		0.010 GeneticVariation group BEFREE EXPOSURE Ocular infection with recombinant adeno-associated viral vectors containing a wild-type allotopic human ND4 gene. 24457989 2014
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 GeneticVariation disease BEFREE Prognostic implications and molecular associations of NADH dehydrogenase subunit 4 (ND4) mutations in acute myeloid leukemia. 21826063 2012