DPYSL3, dihydropyrimidinase like 3, 1809

N. diseases: 52; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0262417
Disease: Acute on chronic pancreatitis
Acute on chronic pancreatitis
0.010 AlteredExpression disease BEFREE Elevated CRMP4 levels were observed in the infiltrated lymphocytes as well as in the pancreas parenchyma of both acute and chronic pancreatitis. 27207309 2016
Adenocarcinoma of the prostate metastatic
0.010 PosttranslationalModification disease BEFREE The CRMP4 promotor methylation level in paraffin-embedded tissues of the 10 patients with PMLP were determined and then compared to limited prostate cancer (LPCa) and its negative lymph node tissue [LPCa-LN (-) (10 cases)] and also to metastatic prostate adenocarcinoma (mPCa) and its positive lymph node tissue [mPCa-LN (+) (10 cases)]. 29308052 2018
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
Adult Subependymal Giant Cell Astrocytoma
0.010 AlteredExpression disease BEFREE p34cdc2, collapsin response mediator protein 4 (CRMP4), doublecortin (DCX), HuD, and NeuN expression was assessed in tuber (n = 16) and subependymal giant cell astrocytoma (SEGA; n = 6) specimens in tuberous sclerosis complex to define the developmental phenotype and lineage of giant cells (CGs) in these lesions. 12731003 2003
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 AlteredExpression disease BEFREE Here, using novel phosphospecific antibodies, we demonstrate that phosphorylation of CRMP2 at Ser522 (Cdk5-mediated) is increased in Alzheimer's disease (AD) brain, while CRMP2 expression and phosphorylation of the closely related isoform CRMP4 are not altered. 17683481 2007
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
ATRIAL SEPTAL DEFECT 1
0.010 AlteredExpression disease BEFREE Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism. 29196732 2017
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.010 AlteredExpression group BEFREE Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism. 29196732 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.020 Biomarker disease BEFREE This review summarizes current knowledge regarding the role of CRMP4 during brain development and discusses the possible contribution of CRMP4 deficiencies or abnormalities to the pathogenesis of ASD. 31137494 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.020 GeneticVariation disease BEFREE Whole-exome sequencing detected a de novo variant (S541Y) of CRMP4 in a male ASD patient. 29196732 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 Biomarker disease BEFREE DPYSL3 modulates mitosis, migration, and epithelial-to-mesenchymal transition in claudin-low breast cancer. 30498031 2018
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.020 GeneticVariation disease BEFREE We found genome-wide significant (P < 5.0 × 10(-8)) evidence for three additional lung cancer susceptibility loci at 10p14 (rs1663689, close to GATA3, P = 2.84 × 10(-10)), 5q32 (rs2895680 in PPP2R2B-STK32A-DPYSL3, P = 6.60 × 10(-9)) and 20q13.2 (rs4809957 in CYP24A1, P = 1.20 × 10(-8)). 22797725 2012
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.020 AlteredExpression disease BEFREE The correlation between DPYSL3 expression and the survival time of lung cancer patients were analyzed in KMPLOT database. 29514686 2018
CUI: C0243038
Disease: Carcinoma, Lewis Lung
Carcinoma, Lewis Lung
0.010 Biomarker disease BEFREE Stable DPYSL3 knockdown Lewis lung carcinoma (LLC) cells were constructed with a retroviral system. 29514686 2018
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 Biomarker disease BEFREE These data indicated that DPYSL3, not DPYSL1 or DPYSL2, is negatively regulated by MYCN and may be used as a potential biomarker for NB. 24011394 2013
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.010 Biomarker disease BEFREE These data indicated that DPYSL3, not DPYSL1 or DPYSL2, is negatively regulated by MYCN and may be used as a potential biomarker for NB. 24011394 2013
Childhood Subependymal Giant Cell Astrocytoma
0.010 AlteredExpression disease BEFREE p34cdc2, collapsin response mediator protein 4 (CRMP4), doublecortin (DCX), HuD, and NeuN expression was assessed in tuber (n = 16) and subependymal giant cell astrocytoma (SEGA; n = 6) specimens in tuberous sclerosis complex to define the developmental phenotype and lineage of giant cells (CGs) in these lesions. 12731003 2003
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.010 AlteredExpression disease LHGDN Evaluation of DRP-2, DRP-3 and DRP-4 revealed significantly decreased levels of 2 of the 15 spots assigned to DRP-2 and increased levels of one spot assigned to DRP-3 and increased DRP-4 in DS brain. 11771764 2001
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.010 Biomarker disease BEFREE As a strategy to define the embryonic origin and neurochemical phenotype of cells in this disease, we probed specimens (n = 10) resected during epilepsy surgery with a panel of 13 antibodies recognizing proteins associated with (i) specific progenitor cell types including brain lipid binding protein (BLBP), collapsin response mediator protein 4 (CRMP4), Dlx1, Dlx2, GFAPdelta, MASH1, Otx1, Pax6, vimentin and phosphorylated vimentin and (ii) excitatory or inhibitory neurochemical phenotypes such as the vesicular glutamate transporters-1 and 2 (VGLUT-1, VGLUT-2), or the vesicular GABA transporter (VGAT). 17711980 2007
CUI: C0079680
Disease: Lentivirus Infections
Lentivirus Infections
0.010 GeneticVariation group BEFREE The stable prostate cancer cells overexpressing the CRMP4 gene were constructed using lentivirus infection. 25338524 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 AlteredExpression disease BEFREE DPYSL3 mRNA levels were down-regulated in most HCC cell lines with DPYSL3 promoter hypermethylation, and expression was restored after demethylation. 25173447 2015
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.010 Biomarker group BEFREE A metastatic lung tumor model in which the stable DPYSL3 knockdown LLC cells were injected through tail vein was used to analyze the role of DPYSL3 in tumor metastasis in vivo. 29514686 2018
CUI: C0024299
Disease: Lymphoma
Lymphoma
0.010 PosttranslationalModification group BEFREE Collapsin response mediator protein 4 promotor methylation level as a potential predictor for diagnosing primary malignant lymphoma of the prostate. 29308052 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 Biomarker disease BEFREE DPYSL3 modulates mitosis, migration, and epithelial-to-mesenchymal transition in claudin-low breast cancer. 30498031 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.020 AlteredExpression disease BEFREE The correlation between DPYSL3 expression and the survival time of lung cancer patients were analyzed in KMPLOT database. 29514686 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.020 GeneticVariation disease BEFREE We found genome-wide significant (P < 5.0 × 10(-8)) evidence for three additional lung cancer susceptibility loci at 10p14 (rs1663689, close to GATA3, P = 2.84 × 10(-10)), 5q32 (rs2895680 in PPP2R2B-STK32A-DPYSL3, P = 6.60 × 10(-9)) and 20q13.2 (rs4809957 in CYP24A1, P = 1.20 × 10(-8)). 22797725 2012