Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
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 GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
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 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
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
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 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
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
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 UNIPROT Molecular characterization of five Portuguese patients with pyrimidine 5'-nucleotidase deficient hemolytic anemia showing three new P5'N-I mutations. 16461318

2006
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
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 UNIPROT Evidence for essential catalytic determinants for human erythrocyte pyrimidine 5'-nucleotidase. 15968458

2005
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
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 UNIPROT Functional analysis of pyrimidine 5'-nucleotidase mutants causing nonspherocytic hemolytic anemia. 15604219

2005
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
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 UNIPROT Molecular basis of Japanese variants of pyrimidine 5'-nucleotidase deficiency. 15238149

2004
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
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 UNIPROT Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency. 12930399

2003
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
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 ORPHANET Molecular characterization of Turkish patients with pyrimidine 5' nucleotidase-I deficiency. 12714505

2003
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
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 UNIPROT Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency. 11369620

2001
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
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 ORPHANET Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency. 11369620

2001
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
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 GENOMICS_ENGLAND Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency. 11369620

2001
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
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 GENOMICS_ENGLAND

Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
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 CTD_human

Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
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 CLINVAR

Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
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 GENOMICS_ENGLAND