ABR, ABR activator of RhoGEF and GTPase, 29

N. diseases: 46; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.010 Biomarker disease BEFREE Significantly, one child with asymptomatic ALD and both heterozygous female relatives showed abnormal ABRs, demonstrating the high sensitivity of ABR in detection of the existence of pathophysiological condition in subclinical or presymptomatic ALD. 3127785 1988