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: 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: 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: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.060 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: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.060 AlteredExpression disease BEFREE These results show that the HuD gene is not mutated in lung cancer, including tumors from patients producing anti-HuD antibodies, but HuD expression is an independent marker or determinant of the neuroendocrine differentiation seen in SCLC. 8069866 1994
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.060 Biomarker disease 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: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.060 Biomarker disease BEFREE The aim of this study was to investigate the serum HuD concentration in SCLC patients and the possibility of its utilization as a biomarker of small cell lung cancer. 28739747 2017
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
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.040 Biomarker disease LHGDN This replication of association with rs967582 in a third cohort further implicates ELAVL4 as a PD susceptibility gene. 18587682 2008
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.040 Biomarker disease LHGDN SNP 2 (located in the first intron of ELAVL4) showed a strong significant association with AAO of PD (P = 0.006), and SNP 5 (a coding SNP in ELAVL4) showed a moderately significant association (P = 0.035). 15827745 2005
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.040 Biomarker disease BEFREE SNP 2 (located in the first intron of ELAVL4) showed a strong significant association with AAO of PD (P = 0.006), and SNP 5 (a coding SNP in ELAVL4) showed a moderately significant association (P = 0.035). 15827745 2005
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