Source: GENOMICS_ENGLAND

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 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 GENOMICS_ENGLAND