PEX2, peroxisomal biogenesis factor 2, 5828

N. diseases: 152; N. variants: 13
Disease: PEROXISOME BIOGENESIS DISORDER 5B ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61752123
rs61752123 		0.925 0.080 8 76983824 stop gained G/A;C snv 1.4E-04; 4.0E-06
CUI: C3542026
Disease: PEROXISOME BIOGENESIS DISORDER 5B
PEROXISOME BIOGENESIS DISORDER 5B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1992 2004