IGF2R, insulin like growth factor 2 receptor, 3482

N. diseases: 166; N. variants: 18
Disease: Globoid cell leukodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		0.010 AlteredExpression disease BEFREE To facilitate HSPCT-mediated correction of GALC deficiency in target cells expressing low levels of CI-MPR, a novel GALC fusion protein including the ApoE1 receptor was developed. 27638600 2016