GOLGA2, golgin A2, 2801

N. diseases: 29; N. variants: 3
Disease: Neuromuscular Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.020 Biomarker group BEFREE Recently, homozygous loss of function of GOLGA2, of which previous in vitro studies suggested an essential role in maintenance of Golgi structure and in mitosis, has been associated with a neuromuscular disorder in human patients, which highlights the need for understanding the developmental roles of the golgins in vivo. 28509431 2017
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.020 GeneticVariation group BEFREE GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder. 26742501 2016