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: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.130 None 1.000 3 1 2016 2020
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired
phenotype Nervous System Diseases Sign or Symptom 60 12 0.110 None 1.000 1 2018 2018
CUI: C0233565
Disease: Bradykinesia
Bradykinesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 133 16 0.110 None 1.000 1 2010 2010
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases Sign or Symptom 127 21 0.110 None 1.000 1 3 2019 2019
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.110 None 1.000 1 2000 2000
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 362 247 0.110 None 1.000 1 1 2016 2016
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1740 865 0.110 None 1.000 1 2 2016 2016
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 320 25 0.110 None 1.000 1 2 2010 2010
Congenital Nonbullous Ichthyosiform Erythroderma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 36 16 0.110 None 1.000 1 2000 2000
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.110 None 1.000 1 2 2015 2015
CUI: C0040822
Disease: Tremor
Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.110 None 1.000 1 3 2016 2016
CUI: C0234379
Disease: Resting Tremor
Resting Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 57 5 0.110 None 1.000 1 1 2017 2017
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 8 0.100 None 0.971 35 2 1983 2019
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1043 127 0.100 None 0.968 31 1 2003 2020
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 1.000 16 8 2012 2020
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 311 150 0.100 None 1.000 1 1 2019 2019
CUI: C3805715
Disease: Short stepped shuffling gait
Short stepped shuffling gait
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 0.100 None 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype Anatomical Abnormality 56 29 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 51 22 0.100 None 0
CUI: C4531121
Disease: Monotonic speech
Monotonic speech
phenotype Finding 9 0.100 None 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy
disease Disease or Syndrome 271 13 0.100 None 0
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification
disease Nutritional and Metabolic Diseases; Cardiovascular Diseases Disease or Syndrome 79 4 0.100 None 0
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding)
phenotype Finding 7 7 0.100 None 0 1