NUP98, nucleoporin 98 and 96 precursor, 4928

N. diseases: 129; N. variants: 2
Disease: Hypothalamic hamartomas ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		0.010 Biomarker disease BEFREE These results suggest that neurons in HH may bear Ca<sup>2+</sup> -permeable AMPA receptors due to dislocation of ADAR2. 28195308 2017