GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Source: ALL
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: 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 19 0.700 strong 1.000 6 19 1984 2016
CUI: C2931585
Disease: Gaucher-like disease
Gaucher-like disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2000 2000
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 2 0.100 None 0 2
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 2 18 0.700 strong 1.000 8 18 1984 2016
CUI: C1856477
Disease: Slowed horizontal saccades
Slowed horizontal saccades 		phenotype Finding 3 1 0.100 None 0
CUI: C4024794
Disease: Horizontal supranuclear gaze palsy
Horizontal supranuclear gaze palsy 		disease Disease or Syndrome 3 1 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: 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 6 34 0.930 None 1.000 25 34 1984 2019
CUI: C0348489
Disease: Other sphingolipidosis
Other sphingolipidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 7 0.200 None 1.000 2 1992 2006
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		phenotype Finding 7 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: C0919718
Disease: Calcification of mitral valve
Calcification of mitral valve 		disease Disease or Syndrome 8 2 0.100 None 0
CUI: C4531121
Disease: Monotonic speech
Monotonic speech 		phenotype Finding 9 0.100 None 0
CUI: C0340968
Disease: Deficiency of pyruvate kinase
Deficiency of pyruvate kinase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 10 63 0.010 None 1.000 1 1996 1996
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
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 12 65 0.010 None 1.000 1 1 2018 2018
CUI: C0400979
Disease: Obstruction of biliary tree
Obstruction of biliary tree 		disease Digestive System Diseases Disease or Syndrome 12 0.100 None 0
CUI: C4023698
Disease: Everted upper lip vermilion
Everted upper lip vermilion 		phenotype Finding 12 0.100 None 0
CUI: C0751378
Disease: Neurologic Signs
Neurologic Signs 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 1 0.010 None 1.000 1 1 2011 2011
CUI: C3163801
Disease: Abnormality of aortic arch
Abnormality of aortic arch 		disease Finding 13 1 0.100 None 0
CUI: C0240341
Disease: Micrographia
Micrographia 		phenotype Finding 14 0.100 None 0