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: 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: 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: rs387907329
rs387907329 		0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs387907329
rs387907329 		0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		Mental Disorders 0.700 0
dbSNP: rs387907329
rs387907329 		0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs387907329
rs387907329 		0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs387907329
rs387907329 		0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs387907329
rs387907329 		0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs797046101
rs797046101 		0.851 0.280 X 49076469 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs797046101
rs797046101 		0.851 0.280 X 49076469 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2015 2015
dbSNP: rs797046101
rs797046101 		0.851 0.280 X 49076469 stop gained G/A snv
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		Nervous System Diseases 0.010 1.000 1 2015 2015
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: 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: 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: rs869312661
rs869312661 		0.925 0.160 X 49075135 splice donor 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: rs869312661
rs869312661 		0.925 0.160 X 49075135 splice donor variant C/T snv
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		0.700 0
dbSNP: rs869312661
rs869312661 		0.925 0.160 X 49075135 splice donor variant C/T snv
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
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: 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