NT5C2, 5'-nucleotidase, cytosolic II, 22978

N. diseases: 149; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888209
Disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease GENOMICS_ENGLAND Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia. 29123918 2017
CUI: C3888209
Disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease BEFREE The present report expands the phenotypic spectrum of SPG45 and confirms NT5C2-SPG45 as a member of the rare TCC SPG-subtypes. 28327087 2017
CUI: C3888209
Disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease GENOMICS_ENGLAND The present report expands the phenotypic spectrum of SPG45 and confirms NT5C2-SPG45 as a member of the rare TCC SPG-subtypes. 28327087 2017
CUI: C3888209
Disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease UNIPROT Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. 28884889 2017
CUI: C3888209
Disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease CLINVAR Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476 2014
CUI: C3888209
Disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation disease UNIPROT Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476 2014
CUI: C3888209
Disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE 		0.710 GermlineCausalMutation disease ORPHANET Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476 2014
CUI: C3888209
Disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease GENOMICS_ENGLAND Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1. 19415352 2009
CUI: C3888209
Disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE 		0.710 Biomarker disease CTD_human
CUI: C3888209
Disease: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE 		0.710 CausalMutation disease CLINVAR
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.400 Biomarker group BEFREE Therefore, these derivatives represent a family of non-nucleos(t)idic cN-II inhibitors with potential usefulness to overcome cancer drug resistance especially in hematological malignancies in which cN-II activity has been described as an important parameter. 30798051 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.400 Biomarker group BEFREE Cytosolic 5'-Nucleotidase II Silencing in a Human Lung Carcinoma Cell Line Opposes Cancer Phenotype with a Concomitant Increase in p53 Phosphorylation. 30037008 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.400 Biomarker group BEFREE The four monofunctional complexes had varied relative GMP binding rates, but similar cytosolic and nuclear compartmental uptake in three cancer cell lines (A549, Caco2, HTB16) and a control cell line (IMR90). 29513752 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.400 AlteredExpression group BEFREE Based on recent observations suggesting additional roles not directly associated to its enzymatic activity, we studied human cancer cell models with basal or decreased cN-II expression. 28978040 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.400 Biomarker group BEFREE Untouched GMP-Ready Purified Engineered Immune Cells to Treat Cancer. 25991821 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.400 Biomarker group BEFREE In summary, our findings confirm some previous data on the role of cN-II in the sensitivity of cancer cells to cancer drugs, and suggest its involvement in other cellular phenomenon such as cell proliferation. 26079827 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.400 Biomarker group BEFREE STING ligand c-di-GMP improves cancer vaccination against metastatic breast cancer. 24913717 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.400 Biomarker group BEFREE A GMP-compliant protocol to expand and transfect cancer patient T cells with mRNA encoding a tumor-specific chimeric antigen receptor. 24938475 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.400 AlteredExpression group BEFREE The activity and specificity of seven promoters, comprising CEACAM5 (carcinoembryonic antigen, CEA), GRP (Gastrin-Releasing Peptide), KRT19 (cytokeratin 19, KRT), SFTPB (surfactant protein B, SP-B), SERPINB3 (Squamous Cell Carcinoma Antigen, SCCA), SELP (Selectin P, Granule Membrane Protein 140 kDa, Antigen CD62, GMP) and DKK1 (Dickkopf-1) promoters were compared in lung cancer cells to obtain cancer-specific examples with strong activity. 24377567 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1. 19415352 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.400 AlteredExpression group BEFREE A significant correlation was also found between iNOS and VEGF expression (P = 0.001). iNOS activity and cyclic GMP production were significantly higher in the cancer specimens than in the normal mucosa (P < 0.0001 and P < 0.0001, respectively), as well as in metastatic tumors than in nonmetastatic ones (P = 0.002 and P = 0.04, respectively). 12598314 2003
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.400 CausalMutation group CGI
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.350 GeneticVariation disease BEFREE The novel signatures were detected in 27% of relapsed ALLs and were responsible for 46% of acquired resistance mutations in NT5C2, PRPS1, NR3C1, and TP53. 31697823 2020
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.350 Biomarker disease BEFREE Direct targeting of NT5C2 or inhibition of compensatory pathways active in <i>NT5C2</i> mutant cells may antagonize the emergence of <i>NT5C2</i> mutant clones driving resistance and relapse in ALL. 30910786 2019