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: 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: 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: 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: C1096249
Disease: Calcification of the aorta
Calcification of the aorta 		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: 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: C0749379
Disease: Thoracolumbar scoliosis
Thoracolumbar scoliosis 		disease 0.100 None 0 1
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0813217
Disease: Expressionless face
Expressionless face 		phenotype 0.100 None 0 1
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		disease 0.100 None 0 0
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration 		phenotype 0.100 None 0 0
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: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 1
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: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		phenotype 0.100 None 0 1
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype 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