Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.640 GeneticVariation disease BEFREE Thus, the title should read "A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate." 31028281 2019
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.640 GeneticVariation disease BEFREE Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures. 30393983 2018
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.640 GeneticVariation disease BEFREE The unique constellation of clinical features in patients with NEDD4L mutations might help clinically distinguish them from patients with other genetic mutations including FLNA, which is a well-known causative gene of periventricular nodular heterotopia. 28515470 2017
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.640 GeneticVariation disease BEFREE Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. 27694961 2016
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.640 GermlineCausalMutation disease ORPHANET Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. 27694961 2016
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.640 Biomarker disease CTD_human Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. 27694961 2016
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.640 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.620 GeneticVariation disease BEFREE Thus, the title should read "A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate." 31028281 2019
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.620 GeneticVariation disease BEFREE A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate. 28515470 2017
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.620 Biomarker disease GENOMICS_ENGLAND Here we show that missense mutations in NEDD4L mapping to the HECT domain of the encoded E3 ubiquitin ligase lead to PNH associated with toe syndactyly, cleft palate and neurodevelopmental delay. 27694961 2016
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.620 Biomarker disease CTD_human Here we show that missense mutations in NEDD4L mapping to the HECT domain of the encoded E3 ubiquitin ligase lead to PNH associated with toe syndactyly, cleft palate and neurodevelopmental delay. 27694961 2016
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.620 Biomarker disease HPO
CUI: C4310669
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7
PERIVENTRICULAR NODULAR HETEROTOPIA 7 		0.610 GeneticVariation disease BEFREE Mutations in the HECT domain of NEDD4L have recently been identified in a cohort of eight patients with a syndromic form of bilateral periventricular nodular heterotopia (PVNH) in association with neurodevelopmental delay, cleft palate, and toe syndactyly (PVNH7). 30393983 2018
CUI: C4310669
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7
PERIVENTRICULAR NODULAR HETEROTOPIA 7 		0.610 Biomarker disease GENOMICS_ENGLAND Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. 27694961 2016
CUI: C4310669
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7
PERIVENTRICULAR NODULAR HETEROTOPIA 7 		0.610 GeneticVariation disease UNIPROT Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. 27694961 2016
CUI: C4310669
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7
PERIVENTRICULAR NODULAR HETEROTOPIA 7 		0.610 Biomarker disease GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111 2013
CUI: C4310669
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7
PERIVENTRICULAR NODULAR HETEROTOPIA 7 		0.610 CausalMutation disease CLINVAR
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.400 AlteredExpression group BEFREE Our results from Nedd4-2 C2 KO mice suggest that enhanced <i>ENaC</i> gene expression is critically involved in salt-sensitive hypertension under certain conditions of specific enzyme isoforms for their ubiquitination. 28604611 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.400 GeneticVariation group BEFREE Contrary to some recent reports, our data also indicate that ENaC is the primary in vivo target of NEDD4-2 and that Nedd4-2 deletion is associated with hypertension on a normal Na<sup>+</sup> diet. 28862701 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.400 Biomarker group BEFREE We demonstrate here that loss of Nedd4-2 C2 isoform causes salt-sensitive hypertension under conditions of a high dietary salt intake in vivo. 27256588 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.400 Biomarker group BEFREE The emerging role of NEDD4-2 in the regulation of different Na+ transporters along the nephron and the identification of human polymorphisms in the NEDD4-2 gene (Nedd4L) related to salt-sensitive hypertension makes this ubiquitin-protein ligase an interesting target for the development of antihypertensive drugs. 25602517 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.400 GeneticVariation group BEFREE We report SNPs that are associated with the inheritance of HTN and are located either at the promoters of N-methyltransferase and catalase genes, or within the coding region of NEDD4L ubiquitin ligase gene, or SNPs in mitochondrial DNA of hypertensive probands. 24491930 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.400 GeneticVariation group BEFREE Genetic variation of NEDD4L has been associated with hypertension and related phenotypes with conflicting results, probably attributable to gender-, age- and ethnicity-related variations in its phenotypic expression. 24047422 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.400 Biomarker group CTD_human Taken together, these results demonstrate that loss of NEDD4-2 in adult renal tubules causes a new form of mild, salt-sensitive hypertension without hyperkalemia that is characterized by upregulation of NCC, elevation of β/γENaC, but not αENaC, and a normal Na+/K+ balance maintained by downregulation of ENaC activity and upregulation of ROMK. 23348737 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.400 Biomarker group BEFREE Taken together, these results demonstrate that loss of NEDD4-2 in adult renal tubules causes a new form of mild, salt-sensitive hypertension without hyperkalemia that is characterized by upregulation of NCC, elevation of β/γENaC, but not αENaC, and a normal Na+/K+ balance maintained by downregulation of ENaC activity and upregulation of ROMK. 23348737 2013