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: 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: C0205768
Disease: Subependymal Giant Cell Astrocytoma
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: C1832033
Disease: Adult Subependymal Giant Cell Astrocytoma
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: C1832034
Disease: Childhood Subependymal Giant Cell Astrocytoma
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: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7 		0.010 Biomarker disease BEFREE Validated genes included dopa decarboxylase, dopamine beta-hydroxylase, and dihydropyrimidinase-related protein 3, which were decreased in NBFL cells exposed to valproate, and spinocerebellar ataxia 7, which was increased in bipolar disease. 15325126 2004
CUI: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion 		0.010 Biomarker disease BEFREE Moreover, VEGF overexpression significantly increased cell proliferation in the ipsilateral SVZ and the numbers of BrdU(+)-CRMP-4(+) and BrdU(+)-Tuj1(+), two markers of immature newborn neurons, and BrdU(+)-MAP-2(+), a marker of mature newborn neurons, cells in the ipsilateral striatum to MCAO. 17061257 2007
CUI: C3267003
Disease: Vascular endothelial growth factor overexpression
Vascular endothelial growth factor overexpression 		0.010 Biomarker disease BEFREE Moreover, VEGF overexpression significantly increased cell proliferation in the ipsilateral SVZ and the numbers of BrdU(+)-CRMP-4(+) and BrdU(+)-Tuj1(+), two markers of immature newborn neurons, and BrdU(+)-MAP-2(+), a marker of mature newborn neurons, cells in the ipsilateral striatum to MCAO. 17061257 2007
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: 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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.100 AlteredExpression phenotype BEFREE Subsequent in vitro and in vivo studies revealed that overexpression of CRMP4 not only suppressed the invasion ability of PCa cells, but also strongly inhibited tumor metastasis in an animal model. 20543870 2010
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.080 Biomarker disease BEFREE Thus, in this study, we show new function of CRMP4 as a metastasis-suppressor in PCa. 20543870 2010
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.080 AlteredExpression phenotype BEFREE Subsequent in vitro and in vivo studies revealed that overexpression of CRMP4 not only suppressed the invasion ability of PCa cells, but also strongly inhibited tumor metastasis in an animal model. 20543870 2010
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.070 Biomarker disease BEFREE Thus, in this study, we show new function of CRMP4 as a metastasis-suppressor in PCa. 20543870 2010
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.040 AlteredExpression group BEFREE Subsequent in vitro and in vivo studies revealed that overexpression of CRMP4 not only suppressed the invasion ability of PCa cells, but also strongly inhibited tumor metastasis in an animal model. 20543870 2010
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.030 AlteredExpression disease BEFREE We used a proteomics approach to screen for metastasis-associated proteins and found that collapsin response mediator protein-4 (CRMP4) expression was inversely associated with the lymph node metastasis of prostate cancer (PCa). 20543870 2010
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
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: C1306460
Disease: Primary malignant neoplasm of lung
Primary 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
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.080 Biomarker phenotype BEFREE CRMP4 knockdown using siRNA reduced cellular invasion, but did not affect proliferation. 22805864 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 AlteredExpression group BEFREE Furthermore, CRMP4 protein levels in primary tumors of pancreatic cancer (n = 53) were examined by immunohistochemistry and compared with the clinicopathological features of the tumors. 22805864 2013
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.020 AlteredExpression disease BEFREE Furthermore, CRMP4 protein levels in primary tumors of pancreatic cancer (n = 53) were examined by immunohistochemistry and compared with the clinicopathological features of the tumors. 22805864 2013
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.020 AlteredExpression disease BEFREE Furthermore, CRMP4 protein levels in primary tumors of pancreatic cancer (n = 53) were examined by immunohistochemistry and compared with the clinicopathological features of the tumors. 22805864 2013
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		0.010 Biomarker disease BEFREE Our results suggested that CRMP4 is significantly associated with poor prognosis by promoting liver metastasis and can serve as a novel therapeutic target for pancreatic cancer. 22805864 2013
CUI: C0027819
Disease: Neuroblastoma
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: 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