KARS1, lysyl-tRNA synthetase 1, 3735

N. diseases: 62; N. variants: 13
Disease: KUFOR-RAKEB SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		0.010 GeneticVariation disease BEFREE Mutations in ATP13A2 cause autosomal-recessive parkinsonism (Kufor-Rakeb syndrome; KRS). 22296644 2012