AQP7, aquaporin 7, 364

N. diseases: 34; N. variants: 4
Disease: Dystrophia myotonica 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2 		0.010 Biomarker disease BEFREE Decreased 37 kDa (presented in this study as a novel isoform) and 34 kDa isoforms of AQP7 in MOW and MODM may cause reduced lipolysis, enhancement of adipocyte hypertrophy, and impairment of insulin, signaling possibly reflected by low GLUT4 expression. 31588962 2019