DNAH8, dynein axonemal heavy chain 8, 1769

N. diseases: 120; N. variants: 43
Disease: Neuromuscular inhibition ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234119
Disease: Neuromuscular inhibition
Neuromuscular inhibition 		0.020 Biomarker disease BEFREE Ca2+ release from the SR is the primary mechanism for activating muscle contraction and reuptake of Ca2+ by the sarcoplasmic reticulum Ca2+ ATPase (SERCA) pump causes muscle relaxation. 28640447 2017
CUI: C0234119
Disease: Neuromuscular inhibition
Neuromuscular inhibition 		0.020 Biomarker disease BEFREE Central to the muscle relaxation phase is a dynamic membrane protein complex formed by Ca2+-ATPase (SERCA) and phospholamban (PLN), which in humans is responsible for approximately 70% of the calcium re-uptake in the sarcoplasmic reticulum. 17908690 2007