PEX5, peroxisomal biogenesis factor 5, 5830

N. diseases: 174; N. variants: 5
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: rs61752138
rs61752138 		0.882 0.120 12 7209700 missense variant T/G snv
CUI: C3550234
Disease: PEROXISOME BIOGENESIS DISORDER 2B
PEROXISOME BIOGENESIS DISORDER 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 1995 1999
dbSNP: rs796051881
rs796051881 		0.807 0.440 12 7202274 frameshift variant -/A delins
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs796051881
rs796051881 		0.807 0.440 12 7202274 frameshift variant -/A delins
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs796051881
rs796051881 		0.807 0.440 12 7202274 frameshift variant -/A delins
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs796051881
rs796051881 		0.807 0.440 12 7202274 frameshift variant -/A delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs796051881
rs796051881 		0.807 0.440 12 7202274 frameshift variant -/A delins
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 1.000 1 2015 2015
dbSNP: rs796051881
rs796051881 		0.807 0.440 12 7202274 frameshift variant -/A delins
CUI: C0282529
Disease: Chondrodysplasia Punctata, Rhizomelic
Chondrodysplasia Punctata, Rhizomelic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs796051881
rs796051881 		0.807 0.440 12 7202274 frameshift variant -/A delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 1 2015 2015
dbSNP: rs796051881
rs796051881 		0.807 0.440 12 7202274 frameshift variant -/A delins
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1565673352
rs1565673352 		1.000 0.080 12 7191613 stop gained G/T snv
CUI: C3550234
Disease: PEROXISOME BIOGENESIS DISORDER 2B
PEROXISOME BIOGENESIS DISORDER 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs61752137
rs61752137 		1.000 0.080 12 7208554 stop gained C/T snv 1.6E-05 2.8E-05
CUI: C3550273
Disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs61752138
rs61752138 		0.882 0.120 12 7209700 missense variant T/G snv
CUI: C3550273
Disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs796051881
rs796051881 		0.807 0.440 12 7202274 frameshift variant -/A delins
CUI: C4225237
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 		0.700 0
dbSNP: rs267608196
rs267608196 		1.000 0.120 12 7209724 missense variant T/C;G 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 0.010 1.000 1 1999 1999
dbSNP: rs61752138
rs61752138 		0.882 0.120 12 7209700 missense variant T/G 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 0.010 1.000 1 1999 1999