SIX5, SIX homeobox 5, 147912

N. diseases: 38; N. variants: 4
Disease: Congenital Myotonic Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410226
Disease: Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophy 		0.020 Biomarker disease BEFREE Decreased levels of DMPK (Dystrophia Myotonica-protein kinase), SIX5, a transcription factor or MBNL1 (Muscleblind-like 1), an RNA splice regulator have been demonstrated to contribute to distinct features of cDM1. 20360842 2010
CUI: C0410226
Disease: Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophy 		0.020 AlteredExpression disease BEFREE Reduced expression of DMAHP was observed in tissues from the patient with congenital myotonic dystrophy. 10573472 1999