ITPA, inosine triphosphatase, 3704

N. diseases: 77; N. variants: 13
Disease: Encephalopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.120 GeneticVariation group BEFREE More recently, a whole exome sequencing project revealed that very rare, severe human ITPA mutation results in early infantile encephalopathy and death. 27770805 2016
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.120 GeneticVariation group BEFREE Recessive ITPA mutations cause an early infantile encephalopathy. 26224535 2015
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.120 Biomarker group HPO