POTEF, POTE ankyrin domain family member F, 728378

N. diseases: 215; N. variants: 2
Disease: Severe Combined Immunodeficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.030 Biomarker disease BEFREE The EnLite Neonatal TREC kit correctly identified known SCID or CDGS patients as presumptive positive samples, and initial cut-offs for TREC and β-actin in the Victorian NBS population were determined. 28861919 2018
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.030 AlteredExpression disease BEFREE No TRECs were detected in either the SCID or naive T-cell-depleted samples, despite the presence of normal levels of beta-actin. 19482345 2009
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.030 Biomarker disease BEFREE The newborn screening filter was retrieved from a state laboratory for one of these infants plus another infant who had died of SCID previously; although both samples had detectable beta-actin DNA, neither had TRECs. 15696101 2005