PEX6, peroxisomal biogenesis factor 6, 5190

N. diseases: 232; N. variants: 58
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: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
PEROXISOME BIOGENESIS DISORDER 4B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1849025
Disease: Oval face
Oval face 		0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0878660
Disease: Proportionate short stature
Proportionate short stature 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C4476788
Disease: Decreased CSF 5-hydroxyindolacetic acid
Decreased CSF 5-hydroxyindolacetic acid 		0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1855514
Disease: Severe failure to thrive
Severe failure to thrive 		0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0029453
Disease: Osteopenia
Osteopenia 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C4023333
Disease: Abnormality of corneal thickness
Abnormality of corneal thickness 		0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0749379
Disease: Thoracolumbar scoliosis
Thoracolumbar scoliosis 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0456909
Disease: Blindness
Blindness 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0
dbSNP: rs1010184002
rs1010184002 		0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0