NT5E, 5'-nucleotidase ecto, 4907

N. diseases: 376; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906620
rs387906620
Entrez Id: 4907
Gene Symbol: NT5E
NT5E
CUI: C1859372
Disease:
Calcification of Joints and Arteries
0.800 GeneticVariation UNIPROT NT5E mutations that cause human disease are associated with intracellular mistrafficking of NT5E protein. 24887587 2014
dbSNP: rs387906620
rs387906620
Entrez Id: 4907
Gene Symbol: NT5E
NT5E
CUI: C1859372
Disease:
Calcification of Joints and Arteries
0.800 GeneticVariation UNIPROT NT5E mutations and arterial calcifications. 21288095 2011
dbSNP: rs387906620
rs387906620
Entrez Id: 4907
Gene Symbol: NT5E
NT5E
CUI: C1859372
Disease:
Calcification of Joints and Arteries
A 0.800 CausalMutation CLINVAR
dbSNP: rs373328681
rs373328681
Entrez Id: 4907
Gene Symbol: NT5E
NT5E
CUI: C1859372
Disease:
Calcification of Joints and Arteries
A 0.700 CausalMutation CLINVAR
dbSNP: rs774200574
rs774200574
Entrez Id: 4907
Gene Symbol: NT5E
NT5E
CUI: C1859372
Disease:
Calcification of Joints and Arteries
GA 0.700 CausalMutation CLINVAR
dbSNP: rs4431401
rs4431401
Entrez Id: 4907
Gene Symbol: NT5E
NT5E
CUI: C0027726
Disease:
Nephrotic Syndrome
0.010 GeneticVariation BEFREE The SNPs of miR-30a [i.e., rs2222722 (C>T)], Notch1 [i.e., rs3124599 (G>A), rs3124591 (C>T), and rs139994842 (G>A)], Snail1 [i.e., rs6020178 (T>C)], p53 [i.e., rs1042522 (C>G)], and CD73 [i.e., rs9444348 (G>A) and rs4431401 (T>C)] were significantly correlated with both differed NS risk and altered hormone sensitivity to NS (all p < 0.05). 29356585 2018
dbSNP: rs9444348
rs9444348
Entrez Id: 4907
Gene Symbol: NT5E
NT5E
CUI: C0027726
Disease:
Nephrotic Syndrome
0.010 GeneticVariation BEFREE The SNPs of miR-30a [i.e., rs2222722 (C>T)], Notch1 [i.e., rs3124599 (G>A), rs3124591 (C>T), and rs139994842 (G>A)], Snail1 [i.e., rs6020178 (T>C)], p53 [i.e., rs1042522 (C>G)], and CD73 [i.e., rs9444348 (G>A) and rs4431401 (T>C)] were significantly correlated with both differed NS risk and altered hormone sensitivity to NS (all p < 0.05). 29356585 2018
dbSNP: rs6922
rs6922
Entrez Id: 4907
Gene Symbol: NT5E
NT5E
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE This is because nucleotide substitutions (eg, G→T at rs6922) of the enhancer eQTLs may cause low expression of SNHG5 gene, and low expression of snoRNA U50, a product generated from introns of the SNHG5gene, can induce cancer. 28033303 2016
dbSNP: rs6922
rs6922
Entrez Id: 4907
Gene Symbol: NT5E
NT5E
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE This is because nucleotide substitutions (eg, G→T at rs6922) of the enhancer eQTLs may cause low expression of SNHG5 gene, and low expression of snoRNA U50, a product generated from introns of the SNHG5gene, can induce cancer. 28033303 2016
dbSNP: rs9444348
rs9444348
Entrez Id: 4907
Gene Symbol: NT5E
NT5E
CUI: C0036572
Disease:
Seizures
0.010 GeneticVariation BEFREE Comparing Kaplan-Meier curves, rs11001109 (ADK) rare allele homozygosity and rs9444348 (NT5E) heterozygosity were significantly associated with shorter time to first seizure and an increased seizure rate 3 years post-TBI. 26040919 2015
dbSNP: rs1262403457
rs1262403457
Entrez Id: 4907
Gene Symbol: NT5E
NT5E
CUI: C1384666
Disease:
hearing impairment
0.010 GeneticVariation BEFREE The 1555A-->G mitochondrial mutation, the most prevalent mitochondrial mutation found in the hearing-impaired population, was found in approximately 3% of the outpatients. 12053143 2002