NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1
0.020 AlteredExpression disease BEFREE Previously, we have shown increased NKX2-5 expression in RNA toxicity associated with DM1. 25168381 2015
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1
0.020 Biomarker disease BEFREE Furthermore, using Nkx2-5+/- mice, we show that NKX2-5 is the first genetic modifier of DM1-associated RNA toxicity in the heart. 18084293 2008