NT5C3A, 5'-nucleotidase, cytosolic IIIA, 51251

N. diseases: 80; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894025
rs104894025
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C1849507
Disease:
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104894025
rs104894025
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C1849507
Disease:
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.800 GeneticVariation UNIPROT
dbSNP: rs104894028
rs104894028
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C1849507
Disease:
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.800 GeneticVariation UNIPROT
dbSNP: rs104894028
rs104894028
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C1849507
Disease:
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		C 0.800 CausalMutation CLINVAR
dbSNP: rs104894029
rs104894029
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C1849507
Disease:
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.800 GeneticVariation UNIPROT
dbSNP: rs104894029
rs104894029
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C1849507
Disease:
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		G 0.800 CausalMutation CLINVAR
dbSNP: rs4316067
rs4316067
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4316067
rs4316067
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs6948759
rs6948759
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs4316067
rs4316067
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C0427460
Disease:
Red cell distribution width determination 		G 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs4316067
rs4316067
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		G 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs369837642
rs369837642
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs369837642
rs369837642
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C0427460
Disease:
Red cell distribution width determination 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs104894026
rs104894026
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C1849507
Disease:
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104894027
rs104894027
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C1849507
Disease:
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		C 0.700 CausalMutation CLINVAR
dbSNP: rs397518435
rs397518435
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C1849507
Disease:
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		G 0.700 CausalMutation CLINVAR
dbSNP: rs397518435
rs397518435
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C1849507
Disease:
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		A 0.700 CausalMutation CLINVAR
dbSNP: rs397518436
rs397518436
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C1849507
Disease:
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		TCC 0.700 CausalMutation CLINVAR
dbSNP: rs397518437
rs397518437
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C1849507
Disease:
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs397518438
rs397518438
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C1849507
Disease:
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		T 0.700 CausalMutation CLINVAR
dbSNP: rs766577643
rs766577643
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C1849507
Disease:
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.700 GeneticVariation UNIPROT
dbSNP: rs3750117
rs3750117
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		0.010 GeneticVariation BEFREE Although none of the NT5C3 polymorphisms was associated with a complete remission rate, a common single nucleotide polymorphism, rs3750117, showed a significant association with induction rate after the first course of chemotherapy (Pcorr=0.004 and odds ratio=11.28) in AML patients. 25000516 2014
dbSNP: rs753346459
rs753346459
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C0017551
Disease:
Gilbert Disease (disorder) 		0.010 GeneticVariation BEFREE Pyrimidine-5'-nucleotidase Campinas, a new mutation (p.R56G) in the NT5C3 gene associated with pyrimidine-5'-nucleotidase type I deficiency and influence of Gilbert's Syndrome on clinical expression. 25153905 2014
dbSNP: rs766577643
rs766577643
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C0017551
Disease:
Gilbert Disease (disorder) 		0.010 GeneticVariation BEFREE Pyrimidine-5'-nucleotidase Campinas, a new mutation (p.R56G) in the NT5C3 gene associated with pyrimidine-5'-nucleotidase type I deficiency and influence of Gilbert's Syndrome on clinical expression. 25153905 2014
dbSNP: rs104894029
rs104894029
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
CUI: C4025735
Disease:
Nonspherocytic hemolytic anemia 		0.010 GeneticVariation BEFREE We have investigated the molecular bases of the disease by studying the biochemical properties of the recombinant wild-type human enzyme and 4 variant proteins (D87V, L131P, N179S, and G230R) bearing missense mutations found in patients affected by nonspherocytic hemolytic anemia. 15604219 2005