Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3704
Gene Symbol: ITPA
ITPA 		0.710 Biomarker disease BEFREE ITPA related epileptic encephalopathy (epileptic encephalopathy, early infantile, 35) is a rare inborn error of metabolism. 30816001 2019
Entrez Id: 3704
Gene Symbol: ITPA
ITPA 		0.710 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 3704
Gene Symbol: ITPA
ITPA 		0.710 GeneticVariation disease UNIPROT Recessive ITPA mutations cause an early infantile encephalopathy. 26224535 2015
Entrez Id: 3704
Gene Symbol: ITPA
ITPA 		0.710 GermlineCausalMutation disease ORPHANET Recessive ITPA mutations cause an early infantile encephalopathy. 26224535 2015
Entrez Id: 3704
Gene Symbol: ITPA
ITPA 		0.710 Biomarker disease GENOMICS_ENGLAND ITPase-deficient mice show growth retardation and die before weaning. 19498443 2009
Entrez Id: 3704
Gene Symbol: ITPA
ITPA 		0.710 CausalMutation disease CLINVAR
Entrez Id: 3704
Gene Symbol: ITPA
ITPA 		0.710 Biomarker disease CTD_human