TFG, trafficking from ER to golgi regulator, 10342

N. diseases: 104; N. variants: 6
Disease: Muscular fasciculation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		0.110 AlteredExpression phenotype BEFREE Using CRISPR-mediated genome editing, we engineered human stem cells that express the mutant form of TFG at endogenous levels and identified specific defects in secretion from the ER and axon fasciculation following neuronal differentiation. 30157421 2018
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		0.110 Biomarker phenotype HPO