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: 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: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2018 2018
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: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs587777074
rs587777074 		0.790 0.240 19 6495688 missense variant C/T snv 4.0E-06
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2018 2018
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: 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: 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: C1527344
Disease: Dysphonia
Dysphonia 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs587776983
rs587776983 		0.807 0.240 19 6502209 missense variant G/A;C;T snv
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs587776983
rs587776983 		0.807 0.240 19 6502209 missense variant G/A;C;T snv
CUI: C0019825
Disease: Hoarseness
Hoarseness 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014
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: rs587776983
rs587776983 		0.807 0.240 19 6502209 missense variant G/A;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 0.810 1.000 1 2017 2017
dbSNP: rs587776983
rs587776983 		0.807 0.240 19 6502209 missense variant G/A;C;T snv
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734 		0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734 		0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734 		0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734 		0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734 		0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734 		0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734 		0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734 		0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734 		0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia 		0.700 1.000 1 2014 2014