NEFH, neurofilament heavy, 4744

N. diseases: 120; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 Biomarker disease BEFREE Integrative genomic analysis identified SMPD3 and NEFH as tumor suppressor genes in HCC. 24012984 2013
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 Biomarker disease BEFREE RNA interference-mediated knockdown of NEFH accelerated ESCC cell growth in culture and increased tumorigenicity in vivo, whereas forced expression of NEFH significantly inhibited cell growth and colony formation. 20140245 2010
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 Biomarker disease BEFREE In children with DS the presence of antibodies to NF-H might reflect a more favorable prognosis. 19758141 2009
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.010 Biomarker disease BEFREE In children with DS the presence of antibodies to NF-H might reflect a more favorable prognosis. 19758141 2009
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.010 AlteredExpression disease BEFREE Plasma neurofilament heavy chain levels in Huntington's disease. 17363167 2007
CUI: C0010823
Disease: Cytomegalovirus Infections
Cytomegalovirus Infections 		0.010 Biomarker group BEFREE Abnormal neuronal aggregates of alpha-internexin and the three neurofilament (NF) subunits, NFL, NFM, and NFH have recently been identified as the signature lesions of neuronal intermediate filament (IF) inclusion disease (NIFID), a novel neurological disease of early onset with a variable clinical phenotype including frontotemporal dementia, pyramidal and extrapyramidal signs. 16005115 2006
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		0.010 Biomarker phenotype BEFREE Abnormal neuronal aggregates of alpha-internexin and the three neurofilament (NF) subunits, NFL, NFM, and NFH have recently been identified as the signature lesions of neuronal intermediate filament (IF) inclusion disease (NIFID), a novel neurological disease of early onset with a variable clinical phenotype including frontotemporal dementia, pyramidal and extrapyramidal signs. 16005115 2006
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.010 Biomarker disease BEFREE Abnormal neuronal aggregates of alpha-internexin and the three neurofilament (NF) subunits, NFL, NFM, and NFH have recently been identified as the signature lesions of neuronal intermediate filament (IF) inclusion disease (NIFID), a novel neurological disease of early onset with a variable clinical phenotype including frontotemporal dementia, pyramidal and extrapyramidal signs. 16005115 2006
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 GeneticVariation disease BEFREE This study has used a proteomic approach, based on two-dimensional gel electrophoresis and mass spectrometry, to compare the protein profiles of OSE from women with a history of familial ovarian cancer (FH-OSE), i.e., at least two first-degree relatives with such cancer and/or testing positive for BRCA1 mutations, to those without such history (NFH-OSE). 15913737 2005
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 GeneticVariation disease BEFREE This study has used a proteomic approach, based on two-dimensional gel electrophoresis and mass spectrometry, to compare the protein profiles of OSE from women with a history of familial ovarian cancer (FH-OSE), i.e., at least two first-degree relatives with such cancer and/or testing positive for BRCA1 mutations, to those without such history (NFH-OSE). 15913737 2005
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 Biomarker disease BEFREE We measured changes in forearm blood flow by plethysmography in response to acetylcholine (9 and 37 microg/min), sodium nitroprusside (200 and 800 ng/min) and the beta-receptor agonist, isoproterenol (50 and 200 ng/min) in 12 patients with essential hypertension (group EH) and in healthy volunteers with (group PFH; n = 14) and without (group NFH; n = 14) a family history of essential hypertension, before and during concomitant infusion of L-arginine (10 micromol/min). 15361763 2004
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked 		0.010 AlteredExpression disease BEFREE Moreover, reduced levels of unphosphorylated neurofilament heavy chain (NF-H) were observed in motor neurons, suggesting a role for NF-H in SBMA neuronal dysfunction. 15152038 2004
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin 		0.010 Biomarker group BEFREE The atrophic process is associated with hind limb paralysis during aging in mice deficient for both NF-M and NF-H proteins. 11090858 2000
CUI: C0262395
Disease: Borderline hypertension
Borderline hypertension 		0.010 Biomarker disease BEFREE We investigated exercise induced urinary albumin excretion rate (UAE)(ex-UAE) in patients with borderline hypertension (BH) compared to normotensives with positive-PFH and negative-NFH family history of hypertension. 9140799 1997
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE Sponge contraction (a mesenchymal characteristic) was greater in NFH-OSE than in FH-OSE both before and after SV40 transformation and was absent in the cancer lines. 8980241 1996
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE Sponge contraction (a mesenchymal characteristic) was greater in NFH-OSE than in FH-OSE both before and after SV40 transformation and was absent in the cancer lines. 8980241 1996
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		0.020 Biomarker disease BEFREE Serum neurofilament heavy chains as early marker of motor neuron degeneration. 31518073 2019
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.020 AlteredExpression group BEFREE This gene has previously been implicated in intellectual disability and is apparently linked to FMR1 and NEFH overexpression associated with neurological disorders. 30567555 2018
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.020 Biomarker disease BEFREE Through integrative methylomics, we discovered and validated the epigenetic signature of NEFH and HS3ST2 as an independent prognostic factor for type II EOC in our dataset (n = 84), and two independent methylomics datasets (total n = 467). 29732534 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Integrative genomic analysis identified SMPD3 and NEFH as tumor suppressor genes in HCC. 24012984 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 AlteredExpression group BEFREE This study further defines the role CASP8AP2/FLASH plays in the regulating expression of the replication-dependent histones and shows that its LOF results in broad and reproducible effects on the transcriptome of colorectal cancer cells including the induction of expression of the recently described tumor suppressor gene NEFH. 22216762 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 PosttranslationalModification disease BEFREE These results implicate Pin1 as a possible modulator of stress-induced NF-H phosphorylation as seen in neurodegenerative disorders like AD and amyotrophic lateral sclerosis. 18635547 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 PosttranslationalModification group LHGDN These results implicate Pin1 as a possible modulator of stress-induced NF-H phosphorylation as seen in neurodegenerative disorders like AD and amyotrophic lateral sclerosis. 18635547 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 PosttranslationalModification group BEFREE These results implicate Pin1 as a possible modulator of stress-induced NF-H phosphorylation as seen in neurodegenerative disorders like AD and amyotrophic lateral sclerosis. 18635547 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.020 Biomarker group BEFREE Neurofilament heavy chain (NfH) is a neuron-specific protein for the neuro-axonal compartment that has been proposed as a marker for axonal injury, degeneration and loss and its clinical use as a biomarker has been suggested in several neurodegenerative diseases. 17363167 2007