DEAF1, DEAF1 transcription factor, 10522

N. diseases: 156; N. variants: 13
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: rs886040972
rs886040972 		1.000 11 680959 splice region variant T/G snv
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.700 1.000 1 2001 2001
dbSNP: rs1554944527
rs1554944527 		1.000 11 687999 stop gained G/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 2010 2017
dbSNP: rs1554944527
rs1554944527 		1.000 11 687999 stop gained G/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 10 2010 2017
dbSNP: rs1554944527
rs1554944527 		1.000 11 687999 stop gained G/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 2010 2017
dbSNP: rs587777623
rs587777623 		0.882 0.120 11 686986 missense variant G/A snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 2010 2017
dbSNP: rs587777406
rs587777406 		1.000 11 686979 missense variant A/C snv
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.800 1.000 2 2010 2014
dbSNP: rs587777407
rs587777407 		1.000 11 686871 missense variant T/G snv
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.700 1.000 2 2010 2014
dbSNP: rs587777408
rs587777408 		1.000 11 686992 missense variant G/A snv
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.800 1.000 2 2010 2014
dbSNP: rs587777409
rs587777409 		1.000 11 686900 missense variant T/G snv
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 		0.800 1.000 2 2010 2014
dbSNP: rs587777623
rs587777623 		0.882 0.120 11 686986 missense variant G/A snv 4.0E-06
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 4 2014 2017
dbSNP: rs587777623
rs587777623 		0.882 0.120 11 686986 missense variant G/A snv 4.0E-06
CUI: C4310683
Disease: DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 		0.700 1.000 4 2014 2017
dbSNP: rs587777623
rs587777623 		0.882 0.120 11 686986 missense variant G/A snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 4 2014 2017
dbSNP: rs587777623
rs587777623 		0.882 0.120 11 686986 missense variant G/A snv 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 4 2014 2017
dbSNP: rs587777623
rs587777623 		0.882 0.120 11 686986 missense variant G/A snv 4.0E-06
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 < 0.001 1 2016 2016
dbSNP: rs587777623
rs587777623 		0.882 0.120 11 686986 missense variant G/A snv 4.0E-06
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs587777623
rs587777623 		0.882 0.120 11 686986 missense variant G/A snv 4.0E-06
CUI: C0025958
Disease: Microcephaly
Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs1057524157
rs1057524157 		0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157 		0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157 		0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C0920299
Disease: Overriding toe
Overriding toe 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157 		0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157 		0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C0031873
Disease: Pica Disease
Pica Disease 		Pathological Conditions, Signs and Symptoms; Mental Disorders 0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157 		0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157 		0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157 		0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C0016202
Disease: Flatfoot
Flatfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157 		0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C0040822
Disease: Tremor
Tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2017 2017