OXR1, oxidation resistance 1, 55074

N. diseases: 21; N. variants: 2
Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.310 GeneticVariation disease BEFREE We identified bi-allelic loss-of-function (LoF) variants in Oxidative Resistance 1 (OXR1) in five individuals from three families; these individuals presented with a history of severe global developmental delay, current intellectual disability, language delay, cerebellar atrophy, and seizures. 31785787 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.310 Biomarker disease GENOMICS_ENGLAND