Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3550693
Disease: PEROXISOME BIOGENESIS DISORDER 3B
PEROXISOME BIOGENESIS DISORDER 3B
0.300 Biomarker disease GENOMICS_ENGLAND Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. 7719337 1995