Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
0.010 GeneticVariation disease BEFREE In this report the identification of two de novo missense mutations in DYNC1H1 (p.Glu1518Lys and p.His3822Pro) in two patients with severe intellectual disability and variable neuronal migration defects is described. 22368300 2012