ITPA, inosine triphosphatase, 3704

N. diseases: 77; N. variants: 13
Disease: Inosine Triphosphatase Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342800
Disease: Inosine Triphosphatase Deficiency
Inosine Triphosphatase Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0342800
Disease: Inosine Triphosphatase Deficiency
Inosine Triphosphatase Deficiency 		0.700 GeneticVariation disease UNIPROT DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency. 12436200 2002
CUI: C0342800
Disease: Inosine Triphosphatase Deficiency
Inosine Triphosphatase Deficiency 		0.700 GeneticVariation disease UNIPROT Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency. 12384777 2002
CUI: C0342800
Disease: Inosine Triphosphatase Deficiency
Inosine Triphosphatase Deficiency 		0.700 CausalMutation disease CLINVAR
CUI: C0342800
Disease: Inosine Triphosphatase Deficiency
Inosine Triphosphatase Deficiency 		0.700 Biomarker disease CTD_human