Source: HPO

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: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group 0.500 None 1.000 0 0 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 0 2012 2018
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 0 2004 2017
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 0 2004 2017
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 0 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: C0040822
Disease: Tremor
Tremor
phenotype 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
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: 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: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly
phenotype 0.110 None 1.000 0 0 2019 2019
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 0 2017 2017
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: 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: C0029453
Disease: Osteopenia
Osteopenia
disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1836904
Disease: Spastic/hyperactive bladder
Spastic/hyperactive bladder
phenotype 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0919718
Disease: Calcification of mitral valve
Calcification of mitral valve
disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis
disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders
group 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0850703
Disease: Frequent falls
Frequent falls
phenotype 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0342649
Disease: Vascular calcification
Vascular calcification
phenotype 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta
phenotype 0.100 None 0 0