Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
0.010 GeneticVariation disease BEFREE Here, we present a 9-year-old male with a homozygous nonsense mutation in NALCN (c.3910C>T, p.Arg1304X) leading to profound intellectual disability, seizures, feeding difficulties, and significant periodic breathing. 29968795 2018