EBF3, EBF transcription factor 3, 253738

N. diseases: 124; N. variants: 15
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: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0003635
Disease: Apraxias
Apraxias 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 8 2009 2017
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0040485
Disease: Torticollis
Torticollis 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057519437
rs1057519437 		0.851 0.240 10 129957300 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057519521
rs1057519521 		0.851 0.120 10 129963375 frameshift variant TCTC/- del
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs797046136
rs797046136 		10 129848391 splice donor variant C/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057519437
rs1057519437 		0.851 0.240 10 129957300 missense variant C/T snv
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057519521
rs1057519521 		0.851 0.120 10 129963375 frameshift variant TCTC/- del
CUI: C0009806
Disease: Constipation
Constipation 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 8 2009 2017
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs1057519437
rs1057519437 		0.851 0.240 10 129957300 missense variant C/T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 0
dbSNP: rs1057519522
rs1057519522 		1.000 10 129877788 stop gained G/A snv
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		Mental Disorders 0.700 0
dbSNP: rs1057519521
rs1057519521 		0.851 0.120 10 129963375 frameshift variant TCTC/- del
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057519521
rs1057519521 		0.851 0.120 10 129963375 frameshift variant TCTC/- del
CUI: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection 		Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases 0.700 0
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0014877
Disease: Esotropia
Esotropia 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0015310
Disease: Exotropia
Exotropia 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057519389
rs1057519389 		0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2017 2017