Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23327
Gene Symbol: NEDD4L
NEDD4L
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
Entrez Id: 23327
Gene Symbol: NEDD4L
NEDD4L
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
Entrez Id: 23327
Gene Symbol: NEDD4L
NEDD4L
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
Entrez Id: 23327
Gene Symbol: NEDD4L
NEDD4L
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
Entrez Id: 23327
Gene Symbol: NEDD4L
NEDD4L
0.620 Biomarker disease HPO