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: 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: 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: 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: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0014877
Disease: Esotropia
Esotropia 		disease 0.100 None 0 1
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: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		disease 0.100 None 0 0
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: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C3163801
Disease: Abnormality of aortic arch
Abnormality of aortic arch 		disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification 		disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0747651
Disease: Recurrent aspiration pneumonia
Recurrent aspiration pneumonia 		disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0041105
Disease: Trismus
Trismus 		disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease 0.100 None 0 0
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
CUI: C0085606
Disease: Urgency of micturition
Urgency of micturition 		disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 1