GBA, glucosylceramidase beta, 2629

N. diseases: 220; N. variants: 79
Source: INFERRED ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.930 None 1.000 0 25 1984 2019
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.770 None 1.000 0 24 1984 2019
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.700 strong 1.000 0 16 1984 2016
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
Gaucher Disease, Type Iiic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.700 strong 1.000 0 19 1984 2016
CUI: C1856478
Disease: Hypometric horizontal saccades
Hypometric horizontal saccades 		phenotype Finding 1 0.100 None 0
CUI: C2676021
Disease: DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO
DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO 		phenotype Finding 1 0.100 None 0 2
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.900 strong 0.985 62 40 1973 2020
CUI: C0342649
Disease: Vascular calcification
Vascular calcification 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 2 0.100 None 0
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 3 1.000 None 0.984 49 51 1983 2020
CUI: C1856477
Disease: Slowed horizontal saccades
Slowed horizontal saccades 		phenotype Finding 3 0.100 None 0
CUI: C4024794
Disease: Horizontal supranuclear gaze palsy
Horizontal supranuclear gaze palsy 		disease Disease or Syndrome 3 0.100 None 0
CUI: C0919718
Disease: Calcification of mitral valve
Calcification of mitral valve 		disease Disease or Syndrome 4 0.100 None 0
CUI: C1408507
Disease: Supranuclear ophthalmoplegia
Supranuclear ophthalmoplegia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0400979
Disease: Obstruction of biliary tree
Obstruction of biliary tree 		disease Digestive System Diseases Disease or Syndrome 6 0.100 None 0
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		disease Disease or Syndrome 6 0.690 None 1.000 0 11 2012 2020
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		phenotype Finding 7 0.100 None 0 1
CUI: C1851972
Disease: Reticular hyperpigmentation
Reticular hyperpigmentation 		phenotype Finding 7 0.100 None 0
CUI: C1855895
Disease: Erlenmeyer flask deformity of the femurs
Erlenmeyer flask deformity of the femurs 		phenotype Finding 7 0.100 None 0
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 8 0.500 None 1.000 0 7 2008 2020
CUI: C4531121
Disease: Monotonic speech
Monotonic speech 		phenotype Finding 9 0.100 None 0
CUI: C0020532
Disease: Hypersplenism
Hypersplenism 		disease Hemic and Lymphatic Diseases Disease or Syndrome 10 0.100 None 0
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification 		disease Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 10 0.100 None 0
CUI: C1836904
Disease: Spastic/hyperactive bladder
Spastic/hyperactive bladder 		phenotype Finding 10 0.100 None 0
CUI: C1851959
Disease: Fluctuations in consciousness
Fluctuations in consciousness 		phenotype Finding 10 0.100 None 0
CUI: C0747651
Disease: Recurrent aspiration pneumonia
Recurrent aspiration pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 11 0.100 None 0