NT5C3A, 5'-nucleotidase, cytosolic IIIA, 51251

N. diseases: 80; N. variants: 15
Disease: Anemia, Hemolytic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.130 AlteredExpression disease LHGDN 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: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.130 GeneticVariation disease BEFREE Molecular characterization of five Portuguese patients with pyrimidine 5'-nucleotidase deficient hemolytic anemia showing three new P5'N-I mutations. 16461318 2006
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.130 Biomarker disease BEFREE We have previously described a family in which the interaction between pyrimidine 5' nucleotidase I (P5N-I) deficiency and hemoglobin E resulted in severe haemolytic anaemia. 15571242 2004
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.130 Biomarker disease HPO