PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Hereditary Motor and Sensory Neuropathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.010 GeneticVariation group BEFREE We screened 108 patients with a diagnosis of hereditary motor and sensory neuropathies in whom the common genetic defects causing hereditary motor and sensory neuropathies had previously been excluded for mutations in the protein-coding region of the PRNP gene. 16009550 2005