PURA, purine rich element binding protein A, 5813

N. diseases: 83; N. variants: 36
Disease: Malnutrition ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.110 Biomarker disease BEFREE We report here a patient with a frame-shift deletion in the PURA gene that apart from the classical PURA deficiency phenotype had marked hypoglycorrhachia, overlapping the clinical findings with a GLUT1 deficiency syndrome. 29307761 2018
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.110 GeneticVariation disease CLINVAR