Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 Biomarker disease BEFREE Forty-two patients with SCZ and 42 matched healthy controls were randomly assigned to an II group or a typical instruction group. 31784339 2020
CUI: C0751615
Disease: Intracranial Arachnoid Cysts
Intracranial Arachnoid Cysts 		0.010 GeneticVariation disease BEFREE There was no significant correlation between ELP4 rs986527 polymorphism and location of intracranial arachnoid cyst. 31743616 2019
CUI: C0007682
Disease: CNS disorder
CNS disorder 		0.010 GeneticVariation group BEFREE Since mutations in other Elongator subunits (ELP2 to ELP4) are associated with central nervous system (CNS) disorders, the goal of this study was to investigate a potential requirement for <i>Ikbkap</i> in the CNS of mice<i>.</i> The sensory and autonomic pathophysiology of FD is fatal, with the majority of patients dying by age 40. 28167615 2017
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial 		0.010 Biomarker disease BEFREE Since mutations in other Elongator subunits (ELP2 to ELP4) are associated with central nervous system (CNS) disorders, the goal of this study was to investigate a potential requirement for <i>Ikbkap</i> in the CNS of mice<i>.</i> The sensory and autonomic pathophysiology of FD is fatal, with the majority of patients dying by age 40. 28167615 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.010 GeneticVariation disease BEFREE Our results suggest that ELP4 deletions are highly likely to be pathogenic, predisposing to a range of neurodevelopmental phenotypes from ASD to language impairment and epilepsy. 26010655 2015
CUI: C0023015
Disease: Language Disorders
Language Disorders 		0.010 GeneticVariation group BEFREE Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation. 26010655 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 GeneticVariation disease BEFREE Six further cases with a primary diagnosis of autism spectrum disorder (ASD) and similar secondary phenotypes were identified with ELP4 deletions, as well as another six (out of nine) with neurodevelopmental phenotypes from DECIPHER. 26010655 2015
CUI: C2363129
Disease: Benign Rolandic Epilepsy
Benign Rolandic Epilepsy 		0.010 GeneticVariation disease BEFREE We conducted a case-control association study on 60 patients with BECTS and 60 control participants to assess the influence of the BDNF and ELP4 polymorphisms on BECTS. 25301525 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.010 GeneticVariation phenotype BEFREE We hypothesize that a non-coding mutation in ELP4 impairs brain-specific Elongator-mediated interaction of genes implicated in brain development, resulting in susceptibility to seizures and neurodevelopmental disorders. 19172991 2009
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.010 GeneticVariation group BEFREE We hypothesize that a non-coding mutation in ELP4 impairs brain-specific Elongator-mediated interaction of genes implicated in brain development, resulting in susceptibility to seizures and neurodevelopmental disorders. 19172991 2009
CUI: C0339467
Disease: Proliferative retinopathy
Proliferative retinopathy 		0.010 GeneticVariation disease BEFREE In a multiple logistical regression analysis, the adjusted relative risk for proliferative retinopathy in a patient with a DD genotype compared with a patient with an II genotype was 6.6 (95% CI 2.2-19.5), P = 0.0026. 10480521 1999
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.010 GeneticVariation disease BEFREE Human mapping studies have shown that the aniridia (AN2) gene, which is part of the Wilms tumor susceptibility, aniridia, genitourinary abnormalities, and mental retardation (WAGR) complex, is also between FSHB and CAT on human chromosome 11. 2347591 1990
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		0.010 GeneticVariation disease BEFREE Human mapping studies have shown that the aniridia (AN2) gene, which is part of the Wilms tumor susceptibility, aniridia, genitourinary abnormalities, and mental retardation (WAGR) complex, is also between FSHB and CAT on human chromosome 11. 2347591 1990
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.020 GeneticVariation disease BEFREE Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation. 26010655 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.020 GeneticVariation group BEFREE Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation. 26010655 2015
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.020 GeneticVariation disease BEFREE Human mapping studies have shown that the aniridia (AN2) gene, which is part of the Wilms tumor susceptibility, aniridia, genitourinary abnormalities, and mental retardation (WAGR) complex, is also between FSHB and CAT on human chromosome 11. 2347591 1990
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.020 GeneticVariation group BEFREE Human mapping studies have shown that the aniridia (AN2) gene, which is part of the Wilms tumor susceptibility, aniridia, genitourinary abnormalities, and mental retardation (WAGR) complex, is also between FSHB and CAT on human chromosome 11. 2347591 1990
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.030 Biomarker disease BEFREE Recent reports on the involvement of the BDNF and ELP4 genes with possible roles in cell motility, migration, and adhesion have provided first insights into the complex molecular bases of childhood focal epilepsies. 22818593 2012
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.030 Biomarker disease BEFREE Recent reports on the involvement of the SRPX2 and ELP4 genes with possible roles in cell motility, migration, and adhesion have provided first insights into the complex molecular bases of childhood focal epilepsies. 19682046 2009
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.030 Biomarker disease BEFREE This is the first report of a gene implicated in a common focal epilepsy and the first human disease association of ELP4. 19172991 2009
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.040 Biomarker disease BEFREE In conclusion our data do not support a major role of ELP4 and SRPX2 in the etiology of RE/ARE. 24995671 2014
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.040 Biomarker disease BEFREE The EP, using our innovative graphical display, identifies important SNPs in elongator protein complex 4 (ELP4) associated with RE that may not have been identified using standard approaches. 20424645 2010
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.040 GeneticVariation disease BEFREE We recently showed genomewide linkage of centrotemporal sharp waves (CTS) in classic Rolandic epilepsy (RE) families to chromosome 11p13, and fine-mapped this locus to variants in the ELP4 gene. 20825490 2010
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.040 Biomarker disease BEFREE Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). 19172991 2009
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 GeneticVariation disease GWASCAT Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways. 29942085 2018