ACTBL2, actin beta like 2, 345651

N. diseases: 134; N. variants: 1
Disease: PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3539168
Disease: PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A 		0.010 GeneticVariation disease BEFREE In addition, two single base transitions were identified by direct sequencing: [exon 6; codon 95; CGA (Arg) to TGA (stop)] and [exon 7; codon 172; ACC (Thr) to ACT (Thr)] in either transcript. 7479776 1995