Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		0.010 Biomarker BEFREE This case confirms previous observations that GBE deficiency ought to be included in the differential diagnosis of congenital hypotonia and that the phenotype correlates with the 'molecular severity' of the mutation. 20833045

2010