NEDD4, NEDD4 E3 ubiquitin protein ligase, 4734

N. diseases: 101; N. variants: 8
Disease: Liddle Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.040 GeneticVariation disease BEFREE Liddle's syndrome mutations disrupt the interaction between ENaC and Nedd4, resulting in an increase in the number of ENaC channels at the cell surface. 11943747 2002
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.040 Biomarker disease BEFREE Liddle's syndrome: a novel mouse Nedd4 isoform regulates the activity of the epithelial Na(+) channel. 11473628 2001
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.040 GeneticVariation disease BEFREE This process may be at least partially impaired in Liddle's syndrome due to reduced Nedd4 binding, leading to increased retention of ENaC at the cell surface. 10720933 2000
CUI: C0221043
Disease: Liddle Syndrome
Liddle Syndrome 		0.040 Biomarker disease BEFREE WW domains of Nedd4 bind to the proline-rich PY motifs in the epithelial Na+ channel deleted in Liddle's syndrome. 8665844 1996