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: rs587777406
rs587777406
1.000 11 686979 missense variant A/C snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
0.800 1.000 2 2010 2014
dbSNP: rs587777408
rs587777408
1.000 11 686992 missense variant G/A snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
0.800 1.000 2 2010 2014
dbSNP: rs587777409
rs587777409
1.000 11 686900 missense variant T/G snv
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
0.800 1.000 2 2010 2014
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: 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
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: 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
dbSNP: rs1057524157
rs1057524157
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C1843146
Disease: Normal interictal EEG
Normal interictal EEG
0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly
0.700 1.000 2 2017 2017
dbSNP: rs1057524157
rs1057524157
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C1969697
Disease: Repetitive compulsive behavior
Repetitive compulsive behavior
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: C4317146
Disease: Acid reflux
Acid reflux
0.700 1.000 2 2017 2017