PEX1, peroxisomal biogenesis factor 1, 5189

N. diseases: 209; N. variants: 100
Disease: Infantile Refsum Disease (disorder) ×
Source: INFERRED ×
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: rs61750420
rs61750420 		0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 9 1997 2016
dbSNP: rs121434455
rs121434455 		0.882 0.360 7 92504812 missense variant A/G snv 7.0E-06
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 0 1997 2005
dbSNP: rs61750427
rs61750427 		0.882 0.360 7 92494357 missense variant A/G;T snv 7.2E-05; 4.0E-06
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 0 1997 2005
dbSNP: rs61750415
rs61750415 		0.882 0.360 7 92503169 frameshift variant -/A delins 5.0E-04 5.1E-04
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 7 1999 2017
dbSNP: rs61750428
rs61750428 		0.882 0.360 7 92494331 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 2002 2015
dbSNP: rs267608176
rs267608176 		0.925 0.240 7 92506306 frameshift variant T/- delins 1.6E-05
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2009 2011
dbSNP: rs61750412
rs61750412 		0.925 0.240 7 92504768 frameshift variant TG/- delins 4.0E-06
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2011 2011
dbSNP: rs1057517518
rs1057517518 		0.925 0.240 7 92491503 splice acceptor variant C/T snv 4.0E-06 1.4E-05
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs149806989
rs149806989 		0.925 0.240 7 92517968 stop gained G/A snv 8.0E-06
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs766020928
rs766020928 		0.925 0.240 7 92528434 start lost A/C;G snv 2.0E-05
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1028247729
rs1028247729 		0.925 0.240 7 92522246 splice acceptor variant C/A;G snv 2.1E-05
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517463
rs1057517463 		0.925 0.240 7 92511008 frameshift variant -/C delins
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517464
rs1057517464 		0.925 0.240 7 92504882 stop gained G/A snv 4.0E-06
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517465
rs1057517465 		0.925 0.240 7 92517439 frameshift variant T/- delins
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517467
rs1057517467 		0.925 0.240 7 92489776 stop gained G/A snv
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517468
rs1057517468 		0.925 0.240 7 92503130 stop gained G/A snv
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517469
rs1057517469 		0.925 0.240 7 92510943 splice donor variant C/T snv
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517470
rs1057517470 		0.925 0.240 7 92499805 stop gained G/A snv
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517472
rs1057517472 		0.925 0.240 7 92494553 frameshift variant -/A delins
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517478
rs1057517478 		0.925 0.240 7 92504895 frameshift variant C/- delins
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517479
rs1057517479 		0.925 0.240 7 92518256 splice acceptor variant C/A snv
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517480
rs1057517480 		0.925 0.240 7 92489803 stop gained C/A snv
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517481
rs1057517481 		0.925 0.240 7 92494538 stop gained G/A;C snv 4.0E-06
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517484
rs1057517484 		0.925 0.240 7 92494614 frameshift variant -/T delins
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517485
rs1057517485 		0.925 0.240 7 92499736 stop gained G/A snv
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0