PEX12, peroxisomal biogenesis factor 12, 5193

N. diseases: 126; N. variants: 41
Disease: PEROXISOME BIOGENESIS DISORDER 3A (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: rs104894616
rs104894616 		1.000 0.080 17 35576171 stop gained T/A snv
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057519507
rs1057519507 		1.000 0.080 17 35576095 frameshift variant -/TA delins
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1199283977
rs1199283977 		0.925 0.080 17 35577074 frameshift variant G/- delins 7.0E-06
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1214971073
rs1214971073 		0.925 0.080 17 35577524 frameshift variant GAGTA/- delins
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1238451790
rs1238451790 		0.925 0.080 17 35577945 stop gained -/GTGCTACC delins 4.0E-06
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs147530802
rs147530802 		1.000 0.080 17 35577920 missense variant T/A snv 5.7E-03 4.9E-03
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555549754
rs1555549754 		0.925 0.080 17 35576091 frameshift variant G/- del
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555549769
rs1555549769 		0.925 0.080 17 35576172 frameshift variant CACT/- delins
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555549841
rs1555549841 		0.925 0.080 17 35577054 stop gained G/A snv
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555549862
rs1555549862 		0.925 0.080 17 35577287 stop gained GAA/TTC mnv
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555549876
rs1555549876 		0.925 0.080 17 35577494 frameshift variant GA/- delins
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555549902
rs1555549902 		0.925 0.080 17 35577894 splice donor variant A/T snv
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555549909
rs1555549909 		0.925 0.080 17 35577933 frameshift variant AT/- del
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555549923
rs1555549923 		0.925 0.080 17 35578020 start lost TA/- delins
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs28936697
rs28936697 		0.882 0.080 17 35575903 missense variant G/A snv 4.0E-06
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs747099919
rs747099919 		0.925 0.080 17 35576073 stop gained C/T snv 4.0E-06 2.1E-05
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs754193088
rs754193088 		0.925 0.080 17 35576081 frameshift variant G/- delins
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs765404768
rs765404768 		0.925 0.080 17 35577496 stop gained A/T snv 4.0E-06
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs767447750
rs767447750 		0.925 0.080 17 35577507 stop gained G/A snv 8.0E-06
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs888633730
rs888633730 		0.925 0.080 17 35577973 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs904972651
rs904972651 		0.925 0.080 17 35577037 splice donor variant C/T snv 8.0E-06 7.0E-06
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs144259891
rs144259891 		0.925 0.080 17 35577895 splice donor variant C/A;T snv 2.4E-05; 4.0E-06
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1997 2011
dbSNP: rs61752107
rs61752107 		0.925 0.080 17 35576128 frameshift variant -/GGCA delins 1.6E-05 2.8E-05
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1997 2011
dbSNP: rs62642859
rs62642859 		0.925 0.080 17 35576175 frameshift variant TAAC/- delins
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1997 1997
dbSNP: rs398123301
rs398123301 		0.925 0.080 17 35575973 frameshift variant AG/- delins
CUI: C3553929
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1998 2011