TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
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: rs587777074
rs587777074 		0.790 0.240 19 6495688 missense variant C/T snv 4.0E-06
CUI: C1851943
Disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587777428
rs587777428 		0.925 0.120 19 6495271 missense variant C/T snv
CUI: C1851943
Disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs767399782
rs767399782 		0.925 0.120 19 6495736 missense variant C/A;T snv 4.0E-06
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		Nervous System Diseases 0.700 0
dbSNP: rs797045074
rs797045074 		0.882 0.120 19 6495335 missense variant C/G;T snv
CUI: C4022595
Disease: Tetraplegia/tetraparesis
Tetraplegia/tetraparesis 		0.700 0
dbSNP: rs797045074
rs797045074 		0.882 0.120 19 6495335 missense variant C/G;T snv
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		0.700 0
dbSNP: rs797045074
rs797045074 		0.882 0.120 19 6495335 missense variant C/G;T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs797045074
rs797045074 		0.882 0.120 19 6495335 missense variant C/G;T snv
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		0.700 0
dbSNP: rs797045074
rs797045074 		0.882 0.120 19 6495335 missense variant C/G;T snv
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		0.700 0
dbSNP: rs797045074
rs797045074 		0.882 0.120 19 6495335 missense variant C/G;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs587777429
rs587777429 		1.000 0.120 19 6496032 missense variant C/A;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 20 2002 2017
dbSNP: rs587777429
rs587777429 		1.000 0.120 19 6496032 missense variant C/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 20 2002 2017
dbSNP: rs886039470
rs886039470 		1.000 0.120 19 6495714 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 20 2002 2017
dbSNP: rs483352809
rs483352809 		0.882 0.120 19 6495754 missense variant C/T snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 4 2013 2014
dbSNP: rs587776983
rs587776983 		0.807 0.240 19 6502209 missense variant G/A;C;T snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2013 2014
dbSNP: rs587776983
rs587776983 		0.807 0.240 19 6502209 missense variant G/A;C;T snv
CUI: C1997740
Disease: Segmental dystonia
Segmental dystonia 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs587776983
rs587776983 		0.807 0.240 19 6502209 missense variant G/A;C;T snv
CUI: C1963946
Disease: Laryngeal dystonia
Laryngeal dystonia 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs587776983
rs587776983 		0.807 0.240 19 6502209 missense variant G/A;C;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2013 2013
dbSNP: rs587777074
rs587777074 		0.790 0.240 19 6495688 missense variant C/T snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2013 2013
dbSNP: rs587777074
rs587777074 		0.790 0.240 19 6495688 missense variant C/T snv 4.0E-06
CUI: C1997740
Disease: Segmental dystonia
Segmental dystonia 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs587777074
rs587777074 		0.790 0.240 19 6495688 missense variant C/T snv 4.0E-06
CUI: C1963946
Disease: Laryngeal dystonia
Laryngeal dystonia 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs886039470
rs886039470 		1.000 0.120 19 6495714 missense variant C/T snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 2014 2018
dbSNP: rs587777467
rs587777467 		1.000 0.120 19 6502208 missense variant C/G;T snv 5.7E-06
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2014 2014
dbSNP: rs587777468
rs587777468 		1.000 0.120 19 6495966 missense variant G/A;C snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2014 2016
dbSNP: rs767399782
rs767399782 		0.925 0.120 19 6495736 missense variant C/A;T snv 4.0E-06
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2014 2017
dbSNP: rs797045074
rs797045074 		0.882 0.120 19 6495335 missense variant C/G;T snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2014 2016