PEX2, peroxisomal biogenesis factor 2, 5828

N. diseases: 152; N. variants: 13
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) ×
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: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 9 1992 2012
dbSNP: rs61752124
rs61752124 		0.925 0.080 8 76983806 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1998 2011
dbSNP: rs267608188
rs267608188 		0.925 0.080 8 76983341 frameshift variant AAGTA/- delins
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2006 2006
dbSNP: rs764771123
rs764771123 		0.925 0.080 8 76983834 frameshift variant TGCCACC/- delins 3.2E-05 7.0E-06
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1554584474
rs1554584474 		0.925 0.080 8 76983676 frameshift variant CT/- delins
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554584487
rs1554584487 		0.925 0.080 8 76983707 frameshift variant G/- delins
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1554584505
rs1554584505 		0.925 0.080 8 76983824 frameshift variant GT/- del
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs200065382
rs200065382 		0.925 0.080 8 76983875 stop gained G/A;T snv 1.5E-04 3.0E-04
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs61752122
rs61752122 		1.000 0.080 8 76983896 frameshift variant TCTCA/- delins 1.6E-05 1.4E-05
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs61752128
rs61752128 		1.000 0.080 8 76983440 missense variant A/G snv
CUI: C3553940
Disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0