Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

GLUCOSIDASE, BETA, ACID
Synonyms

BETA-GLUCOSIDASE, ACID
ID

http://purl.bioontology.org/ontology/OMIM/606463
altLabel

BETA-GLUCOSIDASE, ACID

ACID BETA-GLUCOSIDASE

GBAP

DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO

GLUCOSYLCERAMIDASE

GBA

PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO

GBA1

GLUCOCEREBROSIDASE

GAUCHER DISEASE, TYPE II

GAUCHER DISEASE, TYPE I

GLUCOCEREBROSIDASE PSEUDOGENE

PARKINSON DISEASE, LATE-ONSET SUSCEPTIBILITY TO

GAUCHER DISEASE, TYPE III

BETA-GC

GAUCHER DISEASE, TYPE IIIC

GAUCHER DISEASE, PERINATAL LETHAL
cui

C0268251

C3148775

C2676021

C1842704

C0268250

C2829475

C1414998

C1856476

C1961835
Gene Locus

1q21
Gene Symbol

GBA
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/606463.0001

http://purl.bioontology.org/ontology/OMIM/606463.0006

http://purl.bioontology.org/ontology/OMIM/606463.0002

http://purl.bioontology.org/ontology/OMIM/606463.0005

http://purl.bioontology.org/ontology/OMIM/606463.0004

http://purl.bioontology.org/ontology/OMIM/606463.0009

http://purl.bioontology.org/ontology/OMIM/606463.0008

http://purl.bioontology.org/ontology/OMIM/606463.0003

http://purl.bioontology.org/ontology/OMIM/606463.0007

http://purl.bioontology.org/ontology/OMIM/606463.0044

http://purl.bioontology.org/ontology/OMIM/606463.0048

http://purl.bioontology.org/ontology/OMIM/606463.0045

http://purl.bioontology.org/ontology/OMIM/606463.0041

http://purl.bioontology.org/ontology/OMIM/606463.0040

http://purl.bioontology.org/ontology/OMIM/606463.0043

http://purl.bioontology.org/ontology/OMIM/606463.0046

http://purl.bioontology.org/ontology/OMIM/606463.0042

http://purl.bioontology.org/ontology/OMIM/606463.0047

http://purl.bioontology.org/ontology/OMIM/606463.0010

http://purl.bioontology.org/ontology/OMIM/606463.0018

http://purl.bioontology.org/ontology/OMIM/606463.0019

http://purl.bioontology.org/ontology/OMIM/606463.0016

http://purl.bioontology.org/ontology/OMIM/606463.0013

http://purl.bioontology.org/ontology/OMIM/606463.0012

http://purl.bioontology.org/ontology/OMIM/606463.0015

http://purl.bioontology.org/ontology/OMIM/606463.0011

http://purl.bioontology.org/ontology/OMIM/606463.0017

http://purl.bioontology.org/ontology/OMIM/606463.0014

http://purl.bioontology.org/ontology/OMIM/606463.0032

http://purl.bioontology.org/ontology/OMIM/606463.0037

http://purl.bioontology.org/ontology/OMIM/606463.0031

http://purl.bioontology.org/ontology/OMIM/606463.0038

http://purl.bioontology.org/ontology/OMIM/606463.0033

http://purl.bioontology.org/ontology/OMIM/606463.0036

http://purl.bioontology.org/ontology/OMIM/606463.0039

http://purl.bioontology.org/ontology/OMIM/606463.0034

http://purl.bioontology.org/ontology/OMIM/606463.0030

http://purl.bioontology.org/ontology/OMIM/606463.0035

http://purl.bioontology.org/ontology/OMIM/606463.0022

http://purl.bioontology.org/ontology/OMIM/606463.0026

http://purl.bioontology.org/ontology/OMIM/606463.0025

http://purl.bioontology.org/ontology/OMIM/606463.0027

http://purl.bioontology.org/ontology/OMIM/606463.0021

http://purl.bioontology.org/ontology/OMIM/606463.0020

http://purl.bioontology.org/ontology/OMIM/606463.0028

http://purl.bioontology.org/ontology/OMIM/606463.0024

http://purl.bioontology.org/ontology/OMIM/606463.0023

http://purl.bioontology.org/ontology/OMIM/606463.0029
MIMTYPEMEANING

Gene with known sequence
notation

606463
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

GLUCOSIDASE, BETA, ACID
tui

T047

T033

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNOMEDCT/5963005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/870313002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X40VD RCD CUI
http://purl.bioontology.org/ontology/LNC/LP33319-2 LOINC CUI
http://purl.bioontology.org/ontology/MESH/C565553 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D005776 MSHFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D005776 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/X40VE RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10075699 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10075699 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D005776 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D6-74130 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/5963005 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10075699 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/C564306 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/870313002 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/12246008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D005776 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10075698 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/12246008 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D6-74120 SNMI CUI
http://purl.bioontology.org/ontology/MESH/D005776 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10075698 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10075698 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/62201009 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10075697 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10075697 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D005776 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D6-74110 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/62201009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10075697 MDRGER CUI
http://www.limics.org/hrdo/rdfns#gen_id_16106 HRDO LOOM