KY, kyphoscoliosis peptidase, 339855

N. diseases: 39; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.010 GeneticVariation group BEFREE A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency. 27485408 2016