CLDN16, claudin 16, 10686

N. diseases: 62; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
0.020 GeneticVariation disease BEFREE Patients with CLDN19 mutations may display more severe renal impairment than patients with CLDN16 mutations. 22422540 2012
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
0.020 GeneticVariation disease BEFREE We present a patient with a homozygous truncating CLDN16 gene mutation (W237X) who had early onset of renal insufficiency despite early diagnosis at 2 months. 16924549 2006
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
0.020 GeneticVariation disease LHGDN We present a patient with a homozygous truncating CLDN16 gene mutation (W237X) who had early onset of renal insufficiency despite early diagnosis at 2 months. 16924549 2006