DDX39B, DExD-box helicase 39B, 7919

N. diseases: 50; N. variants: 23
Disease: Cystinuria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010691
Disease: Cystinuria
Cystinuria 		0.010 AlteredExpression disease BEFREE The hBAT1 gene was mapped to 19q12-13.1 on the human chromosome, which is the locus of nontype I cystinuria. hBAT1 message was expressed predominantly in kidney. hBAT1 protein was localized in the apical membrane of proximal tubules in human kidney. 11318953 2001