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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.030 AlteredExpression disease BEFREE These results revealed that no aberrant alternative splicing occurred in SCLC not associated with PEM/PSN and the expression of HuD gene was not specific for a particular histologic subtype of human lung cancer. 9288629 1997
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: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.020 AlteredExpression disease BEFREE The ELAVL4 (HuD) is a neuron-specific RNA-binding protein expressed in 100% of small cell lung cancer (SCLC) cells and over 50% of neuroblastoma cells. 28739747 2017
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.020 AlteredExpression disease BEFREE The ELAVL4 (HuD) is a neuron-specific RNA-binding protein expressed in 100% of small cell lung cancer (SCLC) cells and over 50% of neuroblastoma cells. 28739747 2017
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.020 AlteredExpression disease BEFREE The ELAVL4 (HuD) is a neuron-specific RNA-binding protein expressed in 100% of small cell lung cancer (SCLC) cells and over 50% of neuroblastoma cells. 28739747 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.020 Biomarker disease BEFREE The TH and ELAVL4 assays could detect 1 neuroblastoma cell in 10(6) mononuclear cells. 16384890 2006
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.020 Biomarker disease BEFREE The TH and ELAVL4 assays could detect 1 neuroblastoma cell in 10(6) mononuclear cells. 16384890 2006
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.020 Biomarker disease BEFREE The TH and ELAVL4 assays could detect 1 neuroblastoma cell in 10(6) mononuclear cells. 16384890 2006
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 AlteredExpression disease BEFREE These results revealed that no aberrant alternative splicing occurred in SCLC not associated with PEM/PSN and the expression of HuD gene was not specific for a particular histologic subtype of human lung cancer. 9288629 1997
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 AlteredExpression disease BEFREE These results revealed that no aberrant alternative splicing occurred in SCLC not associated with PEM/PSN and the expression of HuD gene was not specific for a particular histologic subtype of human lung cancer. 9288629 1997
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: 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: 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: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		0.010 AlteredExpression group BEFREE The present study investigated the expression of the HuD protein in the terminal rectum of ARM embryonic rats and explored the effect of HuD expression on the development of the intestinal nervous system. 28849006 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.010 Biomarker group BEFREE Specifically, the N-terminal region of ELAVL4, previously implicated in SCLC-associated autoimmunity, undergoes isoaspartylation in vitro, is recognized by sera from anti-ELAVL4 positive SCLC patients and is highly immunogenic in subcutaneously injected mice and in vitro stimulated human lymphocytes. 27725125 2016
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: 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: C0025286
Disease: Meningioma
Meningioma 		0.010 Biomarker disease BEFREE We suggest that ELAVL4 can be involved in the pathogenesis of meningiomas in male patients. 22965691 2013
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		0.010 AlteredExpression disease BEFREE Reduced expression of ELAVL4 in male meningioma patients. 22965691 2013
CUI: C1762616
Disease: Meningioma, benign, no ICD-O subtype
Meningioma, benign, no ICD-O subtype 		0.010 AlteredExpression disease BEFREE Reduced expression of ELAVL4 in male meningioma patients. 22965691 2013
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.010 GeneticVariation group BEFREE Two inactivating mutations (a frameshift and a stop codon mutation) and 11 nucleotide changes were detected in the coding sequence of HuD gene in 7 different lung tumors. 19410329 2010
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: C0278694
Disease: Disseminated neuroblastoma
Disseminated neuroblastoma 		0.010 Biomarker disease BEFREE We used real-time quantitative reverse transcription-PCR (QPCR) of the tyrosine hydroxylase (TH), GD2 synthetase (GALGT), and embryonic lethal, abnormal vision, Drosophila-like 4 (ELAVL4) genes to detect disseminated neuroblastoma cells. 16384890 2006
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma 		0.010 Biomarker disease BEFREE We used real-time quantitative reverse transcription-PCR (QPCR) of the tyrosine hydroxylase (TH), GD2 synthetase (GALGT), and embryonic lethal, abnormal vision, Drosophila-like 4 (ELAVL4) genes to detect disseminated neuroblastoma cells. 16384890 2006