NFASC, neurofascin, 23114

N. diseases: 62; N. variants: 7
Disease: Neurodevelopmental Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.010 GeneticVariation group BEFREE Recently, homozygous NFASC mutations were recently associated with a neurodevelopmental disorder in two families. 30850329 2019