Symbol Name ID |
Gba
glucosidase, beta, acid MGI:95665 |
Darker colors indicate more annotations |
Human Phenotypes | Intracranial hemorrhage |
Bruising susceptibility |
Purpura |
Ecchymosis |
Petechiae |
Cherry red spot of the macula |
Aortic valve stenosis |
Mitral regurgitation |
Mitral stenosis |
Orthostatic hypotension due to autonomic dysfunction |
Hypertension |
Pulmonary arterial hypertension |
Cardiac arrest |
Bacterial endocarditis |
Abnormal heart valve morphology |
Aortic valve calcification |
Mitral valve calcification |
Abnormal myocardium morphology |
Abnormal pericardium morphology |
Pericardial effusion |
Cardiomegaly |
Double aortic arch |
Calcification of the aorta |
Varicose veins |
Vascular calcification |
Abnormality of the spleen |
Splenomegaly |
Hepatosplenomegaly |
Hypersplenism |
Disease(s) Associated with GBA1 | |||||||||||||||||||||||||||||
Gaucher's disease | |||||||||||||||||||||||||||||
Gaucher's disease perinatal lethal | |||||||||||||||||||||||||||||
Gaucher's disease type I | |||||||||||||||||||||||||||||
Gaucher's disease type II | |||||||||||||||||||||||||||||
Gaucher's disease type III | |||||||||||||||||||||||||||||
Gaucher's disease type IIIC | |||||||||||||||||||||||||||||
late onset Parkinson's disease |
Mouse Phenotypes | abnormal Kupffer cell morphology |
abnormal pulmonary circulation |
prolonged QRS complex duration |
|
Availability | Mouse Genotype | |||
Gbatm1Rlp/Gbatm1Rlp | ||||
Gbatm2Ggb/Gbatm2Ggb | ||||
Gbatm3Ggb/Gbatm3Ggb | ||||
Gbatm4Ggb/Gbatm4Ggb | ||||
Gbaem1(IMPC)H/Gba+ | ||||
Gbatm2Ggb/Gbatm1Nsb | ||||
Gbatm3Ggb/Gbatm1Nsb | ||||
Gbatm4Ggb/Gbatm1Nsb |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 03/21/2023 MGI 6.22 |
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