NT5C3A, 5'-nucleotidase, cytosolic IIIA, 51251

N. diseases: 80; N. variants: 15
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849507
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1849507
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.700 GeneticVariation disease UNIPROT 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
CUI: C1849507
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.700 GeneticVariation disease UNIPROT Molecular basis of pyrimidine 5'-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations. 18499901 2008
CUI: C1849507
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.700 GeneticVariation disease UNIPROT Molecular characterization of five Portuguese patients with pyrimidine 5'-nucleotidase deficient hemolytic anemia showing three new P5'N-I mutations. 16461318 2006
CUI: C1849507
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.700 GeneticVariation disease UNIPROT Evidence for essential catalytic determinants for human erythrocyte pyrimidine 5'-nucleotidase. 15968458 2005
CUI: C1849507
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.700 GeneticVariation disease UNIPROT Functional analysis of pyrimidine 5'-nucleotidase mutants causing nonspherocytic hemolytic anemia. 15604219 2005
CUI: C1849507
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.700 GeneticVariation disease UNIPROT Molecular basis of Japanese variants of pyrimidine 5'-nucleotidase deficiency. 15238149 2004
CUI: C1849507
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.700 GeneticVariation disease UNIPROT Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency. 12930399 2003
CUI: C1849507
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.700 GermlineCausalMutation disease ORPHANET Molecular characterization of Turkish patients with pyrimidine 5' nucleotidase-I deficiency. 12714505 2003
CUI: C1849507
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.700 GeneticVariation disease UNIPROT Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency. 11369620 2001
CUI: C1849507
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.700 GermlineCausalMutation disease ORPHANET Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency. 11369620 2001
CUI: C1849507
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.700 Biomarker disease GENOMICS_ENGLAND Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency. 11369620 2001
CUI: C1849507
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1849507
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.700 Biomarker disease CTD_human
CUI: C1849507
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.700 CausalMutation disease CLINVAR
CUI: C1849507
Disease: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to 		0.700 Biomarker disease GENOMICS_ENGLAND