PLP1, proteolipid protein 1, 5354

N. diseases: 160; N. variants: 43
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: rs1060499653
rs1060499653 		1.000 0.120 X 103785752 stop gained G/T snv
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1060500909
rs1060500909 		0.925 0.120 X 103785717 missense variant T/C snv
CUI: C1839264
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1060500909
rs1060500909 		0.925 0.120 X 103785717 missense variant T/C snv
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1064794255
rs1064794255 		1.000 0.120 X 103785675 missense variant G/A snv
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1135401759
rs1135401759 		0.925 0.080 X 103786638 missense variant A/G snv
CUI: C1839264
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1135401759
rs1135401759 		0.925 0.080 X 103786638 missense variant A/G snv
CUI: C1838114
Disease: Generalized limb muscle atrophy
Generalized limb muscle atrophy 		0.700 0
dbSNP: rs1135401759
rs1135401759 		0.925 0.080 X 103786638 missense variant A/G snv
CUI: C0231687
Disease: Spastic gait
Spastic gait 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs11543022
rs11543022 		1.000 0.120 X 103785621 missense variant C/T snv
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs132630286
rs132630286 		0.925 0.120 X 103788475 missense variant G/T snv
CUI: C4016483
Disease: PELIZAEUS-MERZBACHER DISEASE, CONNATAL
PELIZAEUS-MERZBACHER DISEASE, CONNATAL 		0.700 0
dbSNP: rs132630290
rs132630290 		1.000 X 103776998 start lost G/A snv
CUI: C4016484
Disease: PELIZAEUS-MERZBACHER DISEASE, MILD
PELIZAEUS-MERZBACHER DISEASE, MILD 		0.700 0
dbSNP: rs132630291
rs132630291 		1.000 0.080 X 103789346 missense variant T/C snv
CUI: C1839264
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs132630292
rs132630292 		0.925 0.120 X 103786707 stop gained G/A snv
CUI: C0751915
Disease: Pelizaeus-Merzbacher Disease, Atypical
Pelizaeus-Merzbacher Disease, Atypical 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs132630293
rs132630293 		0.925 0.120 X 103789361 missense variant C/T snv
CUI: C4016483
Disease: PELIZAEUS-MERZBACHER DISEASE, CONNATAL
PELIZAEUS-MERZBACHER DISEASE, CONNATAL 		0.700 0
dbSNP: rs132630294
rs132630294 		1.000 0.080 X 103787853 missense variant C/T snv
CUI: C1839264
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs132630296
rs132630296 		1.000 0.120 X 103785746 missense variant G/T snv
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1556267215
rs1556267215 		1.000 0.120 X 103786657 frameshift variant CCAACATCAA/- del
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1556267287
rs1556267287 		1.000 0.080 X 103786688 frameshift variant TGTC/AGT delins
CUI: C1839264
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1556267388
rs1556267388 		1.000 0.120 X 103786728 splice donor variant T/C snv
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1556269487
rs1556269487 		1.000 0.120 X 103787961 missense variant T/G snv
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1556270312
rs1556270312 		1.000 0.120 X 103788472 missense variant T/G snv
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1556273167
rs1556273167 		1.000 0.080 X 103790581 stop gained C/T snv
CUI: C1839264
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1569427275
rs1569427275 		1.000 0.120 X 103785681 missense variant G/A snv
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569427311
rs1569427311 		1.000 0.120 X 103785743 stop gained C/T snv
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569427707
rs1569427707 		1.000 0.120 X 103786730 splice region variant A/G snv
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569428537
rs1569428537 		1.000 0.120 X 103789401 splice region variant G/T snv
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0