CELF2, CUGBP Elav-like family member 2, 10659

N. diseases: 58; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.110 GeneticVariation disease GWASCAT Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE. 21379329 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.110 GeneticVariation disease BEFREE Recently, candidate genetic studies revealed the single nucleotide polymorphisms (SNPs) of CUGBP2 (rs2242451) and DNMBP (rs11190305 and rs3740058) associated with Alzheimer's disease (AD). 25801238 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.110 GeneticVariation disease GWASDB Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE. 21379329 2011
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.100 GeneticVariation disease GWASCAT Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes. 31407831 2019
CUI: C0005612
Disease: Birth Weight
Birth Weight 		0.100 GeneticVariation phenotype GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
CUI: C0026603
Disease: Motion Sickness
Motion Sickness 		0.100 GeneticVariation disease GWASCAT Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis. 25628336 2015
CUI: C0201899
Disease: Aspartate aminotransferase measurement
Aspartate aminotransferase measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of liver enzymes in korean children. 24124411 2013
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0869220
Disease: Adverse effects, not elsewhere classified
Adverse effects, not elsewhere classified 		0.100 GeneticVariation disease GWASCAT Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records. 30420678 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.010 GeneticVariation disease BEFREE We did not find BRUNOL3 mutations in 92 DiGeorge syndrome-like patients without chromosomal deletions and in 8 parents with congenital heart defect children. 12110949 2002
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.010 GeneticVariation group BEFREE We did not find BRUNOL3 mutations in 92 DiGeorge syndrome-like patients without chromosomal deletions and in 8 parents with congenital heart defect children. 12110949 2002
CUI: C0032285
Disease: Pneumonia
Pneumonia 		0.010 GeneticVariation disease BEFREE The data indicate that SNPs in CELF2 may be associated with the risk of developing ARDS in both African American and non-Hispanic Caucasian children with pneumonia and suggest that the potential role of the splicing factor CELF2 in ARDS should be explored further. 27596159 2016
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		0.010 GeneticVariation disease BEFREE In the African American group multivariable analysis indicated that three variants in CELF2, rs7068124 (p = 0.004), rs3814634 (p = 0.032) and rs10905928 (p = 0.044), and two in TIA1, rs2592178 (p = 0.005) and rs13402990 (p = 0.018) were independently associated with ARDS. 27596159 2016
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.010 GeneticVariation disease BEFREE Finally, we screened the members of the ARVD family for mutations and identified two DNA sequence variants in the protein-coding exons of NAPOR, neither of which was responsible for ARVD. 11414768 2001
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.010 GeneticVariation disease BEFREE We did not find BRUNOL3 mutations in 92 DiGeorge syndrome-like patients without chromosomal deletions and in 8 parents with congenital heart defect children. 12110949 2002
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.010 GeneticVariation disease BEFREE Taken together, our findings suggested that genetic variant of rs3740194 in CELF2 gene might be a valuable predictor for NPC prognosis, and potentially useful in the personalized treatment of NPC. 26314850 2015
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		0.300 Biomarker disease CTD_human Systems pharmacological analysis of drugs inducing stevens-johnson syndrome and toxic epidermal necrolysis. 25811541 2015
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human A single-copy Sleeping Beauty transposon mutagenesis screen identifies new PTEN-cooperating tumor suppressor genes. 28319090 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.300 Biomarker disease CTD_human Exome sequencing supports a de novo mutational paradigm for schizophrenia. 21822266 2011
CUI: C0038325
Disease: Stevens-Johnson Syndrome
Stevens-Johnson Syndrome 		0.300 Biomarker disease CTD_human Systems pharmacological analysis of drugs inducing stevens-johnson syndrome and toxic epidermal necrolysis. 25811541 2015