NPRL3, NPR3 like, GATOR1 complex subunit, 8131

N. diseases: 37; N. variants: 45
Disease: alpha-Thalassemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.010 GeneticVariation disease BEFREE To date, all of the chromosomal deletions that cause alpha-thalassemia remove the structural alpha genes and/or their regulatory element (HS -40). 10910890 2000