WDR45, WD repeat domain 45, 11152

N. diseases: 72; N. variants: 31
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: rs1557084120
rs1557084120 		1.000 X 49075874 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 2010 2017
dbSNP: rs1557084120
rs1557084120 		1.000 X 49075874 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 2010 2017
dbSNP: rs1557084549
rs1557084549 		X 49078050 stop gained G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 10 2010 2017
dbSNP: rs387907329
rs387907329 		0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 2010 2017
dbSNP: rs387907329
rs387907329 		0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 10 2010 2017
dbSNP: rs387907329
rs387907329 		0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 10 2010 2017
dbSNP: rs886041382
rs886041382 		0.925 0.080 X 49078077 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 2010 2017
dbSNP: rs886041382
rs886041382 		0.925 0.080 X 49078077 stop gained G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 10 2010 2017
dbSNP: rs1557083958
rs1557083958 		1.000 0.080 X 49075363 splice donor variant C/G;T snv
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 2012 2017
dbSNP: rs387907329
rs387907329 		0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 2012 2019
dbSNP: rs1557084491
rs1557084491 		1.000 0.080 X 49077749 splice acceptor variant T/C snv
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2012 2015
dbSNP: rs797046102
rs797046102 		1.000 0.080 X 49075865 splice donor variant C/A;T snv
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2012 2015
dbSNP: rs864309661
rs864309661 		1.000 0.080 X 49077715 inframe deletion CCA/- delins
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2012 2013
dbSNP: rs864309661
rs864309661 		1.000 0.080 X 49077715 inframe deletion CCA/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 3 2012 2013
dbSNP: rs864309661
rs864309661 		1.000 0.080 X 49077715 inframe deletion CCA/- delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2012 2013
dbSNP: rs864309661
rs864309661 		1.000 0.080 X 49077715 inframe deletion CCA/- delins
CUI: C0231221
Disease: Asymptomatic
Asymptomatic 		0.700 1.000 3 2012 2013
dbSNP: rs1569523502
rs1569523502 		1.000 0.080 X 49076450 inframe deletion TCAAAC/- delins
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs782557596
rs782557596 		1.000 0.080 X 49075239 stop gained G/A;C snv 2.7E-05 1.9E-05
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs797046101
rs797046101 		0.851 0.280 X 49076469 stop gained G/A snv
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs797046101
rs797046101 		0.851 0.280 X 49076469 stop gained G/A snv
CUI: C3275487
Disease: X-linked cerebral, cerebellar, coloboma syndrome
X-linked cerebral, cerebellar, coloboma syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2012 2012
dbSNP: rs886041382
rs886041382 		0.925 0.080 X 49078077 stop gained G/A snv
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1057519622
rs1057519622 		1.000 0.080 X 49078038 splice donor variant AC/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057519622
rs1057519622 		1.000 0.080 X 49078038 splice donor variant AC/- delins
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1557083830
rs1557083830 		1.000 0.080 X 49074913 splice acceptor variant C/T snv
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1557083878
rs1557083878 		1.000 0.080 X 49075157 frameshift variant -/GG delins
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0