CELF6, CUGBP Elav-like family member 6, 60677

N. diseases: 7; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.020 GeneticVariation disease BEFREE We previously reported cognitive inflexibility in a mouse model null for the RBP CUG-BP, Elav-like factor 6 (CELF6), which we also found to be associated with human autism. 31215739 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.020 Biomarker disease BEFREE Analysis of common variants near the corresponding genes in the AGRE collection implicated the RNA binding protein CELF6 in autism risk. 23407934 2013
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy
0.010 Biomarker disease BEFREE CELF6, a member of the CELF family of RNA-binding proteins, regulates muscle-specific alternative splicing and contributes to the pathogenesis of myotonic dystrophy (DM), however the role of CELF6 in cancer cell proliferation is less appreciated. 31534127 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE Collectively, these data demonstrate that CELF6 might be a potential tumor suppressor, CELF6 regulates cell proliferation and cell cycle progression via modulating p21 stability. 31534127 2019
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
0.010 GeneticVariation disease BEFREE Minor allele "C" of rs4777498 in CELF6 was associated with an increased risk of CC in the recessive model. 28423658 2017
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.010 GeneticVariation disease BEFREE Minor allele "C" of rs4777498 in CELF6 was associated with an increased risk of CC in the recessive model. 28423658 2017
CUI: C4048328
Disease: cervical cancer
cervical cancer
0.010 GeneticVariation disease BEFREE Minor allele "C" of rs4777498 in CELF6 was associated with an increased risk of CC in the recessive model. 28423658 2017