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: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 255 41 0.500 None 1.000 42 10 2008 2020
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: 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 18 26 0.770 None 1.000 22 26 1984 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 373 95 0.500 None 1.000 21 4 2004 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: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET
disease Disease or Syndrome 247 76 0.690 None 1.000 11 13 2012 2020
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.090 None 1.000 9 1 2012 2018
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: C0751772
Disease: REM Sleep Behavior Disorder
REM Sleep Behavior Disorder
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 46 16 0.070 None 1.000 7 1 2017 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.070 None 1.000 7 2 1994 2019
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 718 159 0.060 None 1.000 6 3 2012 2018
CUI: C0024299
Disease: Lymphoma
Lymphoma
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1548 91 0.060 None 1.000 6 2006 2016
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.160 None 1.000 6 3 2012 2018
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: C0426980
Disease: Motor symptoms
Motor symptoms
phenotype Sign or Symptom 100 15 0.060 None 1.000 6 2011 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.050 None 1.000 5 2 1994 2019
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1171 66 0.050 None 1.000 5 2011 2016
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1169 66 0.050 None 1.000 5 2011 2016
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 504 46 0.040 None 1.000 4 1 2003 2020
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 92 32 0.040 None 1.000 4 1 2012 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.040 None 1.000 4 2012 2017
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
group Mental Disorders Mental or Behavioral Dysfunction 607 47 0.040 None 1.000 4 3 2013 2019
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.040 None 1.000 4 2 2016 2020
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 477 83 0.040 None 1.000 4 2007 2018
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.130 None 1.000 3 5 2004 2017