NFASC, neurofascin, 23114

N. diseases: 62; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.010 GeneticVariation phenotype BEFREE Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy. 30850329 2019