ELAVL4, ELAV like RNA binding protein 4, 1996

N. diseases: 31; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127 2018
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.060 AlteredExpression disease BEFREE Anti-Hu syndrome is a paraneoplastic neurologic disease seemingly associated with an efficient antitumoral immune response against HuD protein expressed by both small cell lung cancer (SCLC) and neurons. 14512168 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE Autoantibodies against SCLC-associated neuronal antigen ELAVL4 (HuD) have been linked to smaller tumors and improved survival, but the antigenic epitope and mechanism of autoimmunity have never been solved. 27725125 2016
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.200 Biomarker disease RGD Coordinated expression of HuD and GAP-43 in hippocampal dentate granule cells during developmental and adult plasticity. 17577668 2007
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.010 Biomarker disease BEFREE Expert commentary: The identification of genetic modifiers such as PLS3 and NCALD in humans or of SMA modulators such as Elavl4 (HuD), Copa, Uba1, Mapk10 (Jnk3), Nrxn2 and Tmem41b (Stasimon) in various SMA animal models improved our knowledge of impaired cellular pathways in SMA. 28635376 2017
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Genetic studies of body mass index yield new insights for obesity biology. 25673413 2015
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.010 GeneticVariation disease BEFREE Genetic variability in ELAVL4 located in the PARK10 locus was recently associated with age-at-onset (AAO) in a series of Parkinson's disease (PD) patients originating from the United States. 17230446 2007
CUI: C0037369
Disease: Smoking
Smoking 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. 30643258 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. 28991256 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260 2019
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.100 GeneticVariation disease GWASCAT Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions. 30718901 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 Biomarker disease BEFREE Here, we report the identification of several HuD target transcripts linked to Alzheimer's disease (AD) pathogenesis. 24857657 2014
CUI: C0149940
Disease: Sciatic Neuropathy
Sciatic Neuropathy 		0.200 Biomarker disease RGD Increased expression and localization of the RNA-binding protein HuD and GAP-43 mRNA to cytoplasmic granules in DRG neurons during nerve regeneration. 12957493 2003
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.030 GeneticVariation disease BEFREE Molecular analysis of the HuD gene in neuroendocrine lung cancers. 19410329 2010
CUI: C0751912
Disease: Paraneoplastic Encephalomyelitis
Paraneoplastic Encephalomyelitis 		0.010 GeneticVariation disease BEFREE Molecular analysis of the HuD gene encoding a paraneoplastic encephalomyelitis antigen in human lung cancer cell lines. 8069866 1994
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.030 GeneticVariation disease BEFREE Molecular analysis of the HuD gene encoding a paraneoplastic encephalomyelitis antigen in human lung cancer cell lines. 8069866 1994
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 GeneticVariation disease BEFREE Molecular analysis of the HuD gene encoding a paraneoplastic encephalomyelitis antigen in human lung cancer cell lines. 8069866 1994
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 GeneticVariation disease BEFREE Molecular analysis of the HuD gene encoding a paraneoplastic encephalomyelitis antigen in human lung cancer cell lines. 8069866 1994
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.060 AlteredExpression disease LHGDN Molecular detection of neuron-specific ELAV-like-positive cells in the peripheral blood of patients with small-cell lung cancer. 18607064 2008
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 Biomarker disease BEFREE Mutant FUS and ELAVL4 (HuD) Aberrant Crosstalk in Amyotrophic Lateral Sclerosis. 31242416 2019
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.200 Biomarker disease RGD Neuronal HuD gene encoding a mRNA stability regulator is transcriptionally repressed by thyroid hormone. 12859688 2003
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.040 Biomarker disease BEFREE Our data suggest that the association between ELAVL4 and PD previously observed might be explained by a Celtic-founder effect. 17230446 2007
CUI: C0023186
Disease: Learning Disorders
Learning Disorders 		0.200 Biomarker group RGD PKC activation during training restores mushroom spine synapses and memory in the aged rat. 23545166 2013
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		0.200 Biomarker disease RGD PKC activation during training restores mushroom spine synapses and memory in the aged rat. 23545166 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.040 Biomarker disease BEFREE Previous studies indicate that as many as six genes within the PARK10 region (RNF11, UQCRH, HIVEP3, EIF2B3, USP24, ELAVL4) might modify susceptibility or age at onset in Parkinson's disease (PD). 24156912 2014