Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54187
Gene Symbol: NANS
NANS
0.010 GeneticVariation disease BEFREE We identified biallelic mutations in NANS, the gene encoding the synthase for N-acetylneuraminic acid (NeuNAc; sialic acid), in nine individuals with infantile-onset severe developmental delay and skeletal dysplasia. 27213289 2016