Source: INFERRED

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: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
disease 1.000 None 0.984 49 51 1983 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 0 25 1984 2019
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease
disease 0.900 strong 0.985 62 40 1973 2020
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 0 24 1984 2019
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL
disease 0.700 strong 1.000 0 16 1984 2016
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
Gaucher Disease, Type Iiic
disease 0.700 strong 1.000 0 19 1984 2016
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 0 11 2012 2020
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 1 1 2004 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 0 7 2008 2020
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 0 2 2004 2020
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.400 strong 1.000 0 0 1997 1997
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 0 1 2012 2018
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease 0.130 None 1.000 0 0 2016 2020
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.130 None 1.000 0 2 2004 2017
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0002871
Disease: Anemia
Anemia
disease 0.130 None 1.000 0 3 2004 2017
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
Congenital Nonbullous Ichthyosiform Erythroderma
disease 0.110 None 1.000 0 0 2000 2000
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0234379
Disease: Resting Tremor
Resting Tremor
phenotype 0.110 None 1.000 0 1 2017 2017
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0233565
Disease: Bradykinesia
Bradykinesia
phenotype 0.110 None 1.000 0 0 2010 2010
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
phenotype 0.110 None 1.000 0 2 2010 2010
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.110 None 1.000 0 1 2016 2016
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0040822
Disease: Tremor
Tremor
phenotype 0.110 None 1.000 0 1 2016 2016
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease 0.110 None 1.000 0 0 2000 2000
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly
phenotype 0.110 None 1.000 0 3 2019 2019