PPT1, palmitoyl-protein thioesterase 1, 5538

N. diseases: 112; N. variants: 90
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: rs1057516447
rs1057516447 		1.000 0.120 1 40092080 stop gained G/T snv
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516889
rs1057516889 		1.000 0.120 1 40078632 frameshift variant -/T delins 4.0E-06
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517049
rs1057517049 		1.000 0.120 1 40092109 frameshift variant -/AAGT delins
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517112
rs1057517112 		1.000 0.120 1 40097185 frameshift variant TCCATGG/- delins
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517192
rs1057517192 		1.000 0.120 1 40092448 frameshift variant T/- delins
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517368
rs1057517368 		1.000 0.120 1 40097113 splice donor variant A/T snv
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057517401
rs1057517401 		1.000 0.120 1 40092044 splice donor variant C/T snv
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs137852695
rs137852695 		0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs137852695
rs137852695 		0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs137852695
rs137852695 		0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 0
dbSNP: rs143657539
rs143657539 		1 40092054 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs143657539
rs143657539 		1 40092054 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 0
dbSNP: rs1553166135
rs1553166135 		1.000 0.120 1 40074147 stop gained G/A snv
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553166147
rs1553166147 		1.000 0.120 1 40074185 splice acceptor variant T/C snv
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553166499
rs1553166499 		1.000 0.120 1 40078565 frameshift variant A/- delins
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553167415
rs1553167415 		1.000 0.120 1 40091328 splice donor variant C/T snv
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553167430
rs1553167430 		1.000 0.120 1 40091401 splice acceptor variant T/C snv
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553167474
rs1553167474 		1.000 0.120 1 40092069 frameshift variant C/- delins
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553167479
rs1553167479 		1.000 0.120 1 40092125 frameshift variant GT/- delins
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1553167863
rs1553167863 		1.000 0.120 1 40097218 frameshift variant GCAG/- delins
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1557714302
rs1557714302 		0.925 0.120 1 40092486 stop gained A/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1557714302
rs1557714302 		0.925 0.120 1 40092486 stop gained A/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1557714302
rs1557714302 		0.925 0.120 1 40092486 stop gained A/C snv
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386833624
rs386833624 		1.000 0.120 1 40073532 3 prime UTR variant TGAT/- del
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386833628
rs386833628 		1.000 0.120 1 40097114 splice donor variant C/T snv 7.0E-06
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0