SPATA18, spermatogenesis associated 18, 132671

N. diseases: 13; N. variants: 1
Disease: Muscular Dystrophies, Limb-Girdle ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.010 Biomarker group LHGDN Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. 16088906 2005