Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
0.020 Biomarker BEFREE These findings emphasize the importance of searching GBE deficiency in patients presenting with a leukodystrophy and acute neurological symptoms mimicking a stroke, in the absence of cardiovascular risk factors. 23146612

2013

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
0.020 Biomarker BEFREE APBD with GBE deficiency, with occasional exceptions, is a clinically homogenous disorder that should be suspected in patients with adult onset leukodystrophy or spastic paraplegia with early onset of urinary symptoms and spinal atrophy. 23034915

2012