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: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 106 16 0.010 None 1.000 1 1 2011 2011
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 80 11 0.010 None 1.000 1 2000 2000
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2007 2007
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.010 None 1.000 1 2018 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 1984 1984
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 176 52 0.010 None 1.000 1 2016 2016
CUI: C2826321
Disease: Refractory Thrombocytopenia
Refractory Thrombocytopenia 		disease Hemic and Lymphatic Diseases Neoplastic Process 22 1 0.010 None 1.000 1 1 2011 2011
CUI: C1290884
Disease: Inflammatory disorder
Inflammatory disorder 		group Pathological Conditions, Signs and Symptoms Disease or Syndrome 391 8 0.010 None 1.000 1 2015 2015
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 26 129 0.010 None 1.000 1 1 2018 2018
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.010 None 1.000 1 2018 2018
CUI: C1333296
Disease: Activated B-cell type diffuse large B-cell lymphoma
Activated B-cell type diffuse large B-cell lymphoma 		disease Neoplastic Process 39 2 0.010 None 1.000 1 2011 2011
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2 2018 2018
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 996 25 0.010 None 1.000 1 2008 2008
CUI: C3494358
Disease: Prodromal Symptoms
Prodromal Symptoms 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 15 4 0.010 None 1.000 1 2019 2019
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 64 20 0.010 None 1.000 1 2006 2006
CUI: C1333295
Disease: Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type
Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type 		disease Neoplastic Process 18 0.010 None 1.000 1 2014 2014
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		disease Nervous System Diseases Disease or Syndrome 122 79 0.010 None 1.000 1 1 2013 2013
CUI: C0600452
Disease: Hepatopulmonary Syndrome
Hepatopulmonary Syndrome 		disease Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 29 1 0.010 None 1.000 1 2019 2019
CUI: C0021364
Disease: Male infertility
Male infertility 		phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.010 None 1.000 1 2012 2012
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 424 28 0.010 None 1.000 1 2012 2012
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.010 None 1.000 1 2004 2004
CUI: C0152244
Disease: Bone Cysts, Aneurysmal
Bone Cysts, Aneurysmal 		disease Neoplasms; Musculoskeletal Diseases Disease or Syndrome 79 5 0.010 None 1.000 1 2019 2019
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		disease Nervous System Diseases Disease or Syndrome 20 20 0.010 None 1.000 1 2010 2010
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 2015 2015
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