Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease 0.500 None 0.989 264 15 2004 2020
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		disease 1.000 None 0.984 127 119 1983 2020
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		disease 0.500 None 1.000 42 10 2008 2020
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		group 0.100 None 0.971 35 2 1983 2019
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		disease 0.100 None 0.968 31 1 2003 2020
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		disease 0.930 None 1.000 25 34 1984 2019
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		disease 0.770 None 1.000 22 26 1984 2019
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group 0.500 None 1.000 21 4 2004 2020
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease 0.100 None 1.000 16 8 2012 2020
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		disease 0.690 None 1.000 11 13 2012 2020
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group 0.090 None 1.000 9 1 2012 2018
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		disease 0.090 None 0.889 9 1 2010 2019
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group 0.070 None 1.000 7 2 1994 2019
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0751772
Disease: REM Sleep Behavior Disorder
REM Sleep Behavior Disorder 		disease 0.070 None 1.000 7 1 2017 2020
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		disease 0.060 None 1.000 6 3 2012 2018
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0024299
Disease: Lymphoma
Lymphoma 		group 0.060 None 1.000 6 0 2006 2016
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		phenotype 0.060 None 1.000 6 0 2011 2017
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0497327
Disease: Dementia
Dementia 		disease 0.160 None 1.000 6 3 2012 2018
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		disease 0.050 None 1.000 5 0 2011 2016
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		disease 0.050 None 1.000 5 0 2011 2016
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group 0.050 None 1.000 5 2 1994 2019
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		disease 0.040 None 1.000 4 1 2003 2020
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype 0.040 None 1.000 4 2 2016 2020
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		disease 0.040 None 1.000 4 0 2007 2018
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		group 0.040 None 1.000 4 3 2013 2019