GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
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: rs75822236
rs75822236 		0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 11 1993 2017
dbSNP: rs75822236
rs75822236 		0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 3 1993 2008
dbSNP: rs75822236
rs75822236 		0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 1.000 2 2004 2018
dbSNP: rs75822236
rs75822236 		0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs80356773
rs80356773 		0.925 0.080 1 155235002 missense variant C/T snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2020 2020
dbSNP: rs80356773
rs80356773 		0.925 0.080 1 155235002 missense variant C/T snv
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		Behavior and Behavior Mechanisms 0.010 1.000 1 2020 2020
dbSNP: rs80356773
rs80356773 		0.925 0.080 1 155235002 missense variant C/T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs75822236
rs75822236 		0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs75822236
rs75822236 		0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 0
dbSNP: rs75822236
rs75822236 		0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs75822236
rs75822236 		0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs75822236
rs75822236 		0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
Gaucher Disease, Type Iiic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs75822236
rs75822236 		0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs747506979
rs747506979 		0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 2 2008 2009
dbSNP: rs747506979
rs747506979 		0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs747506979
rs747506979 		0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs747506979
rs747506979 		0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs78016673
rs78016673 		1.000 0.120 1 155235017 missense variant G/A snv
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121908301
rs121908301 		1.000 0.120 1 155235057 missense variant C/T snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 22 1990 2009
dbSNP: rs1327336561
rs1327336561 		1.000 0.120 1 155235089 missense variant T/C snv 8.5E-06
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs80356772
rs80356772 		0.790 0.160 1 155235195 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 1 2011 2011
dbSNP: rs80356772
rs80356772 		0.790 0.160 1 155235195 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0751378
Disease: Neurologic Signs
Neurologic Signs 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs80356772
rs80356772 		0.790 0.160 1 155235195 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs80356772
rs80356772 		0.790 0.160 1 155235195 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs80356772
rs80356772 		0.790 0.160 1 155235195 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C2826321
Disease: Refractory Thrombocytopenia
Refractory Thrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011