GBA1 (Gene)

Organism:

Homo sapiens

Synonyms:ENTREZ:2629, GBA, GBA1, GCB, GLUC, HGNC:4177, MIM:606463, NM_000157, NM_001005741, NM_001005742, NM_001005749, NM_001005750, NM_001171811, NM_001171812, NP_000148, NP_001005741, NP_001005742, NP_001165282, NP_001165283, glucosylceramidase beta

Id:ENSG00000262446

Description:glucosylceramidase beta 1 [Source:HGNC Symbol;Acc:HGNC:4177]

This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View GBA1's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with GBA1.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using GBA1.

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GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for GBA1.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with GBA1.

Results found

Linked to

	Label	Description
	Hypertension Phenotype (Entity type)	The presence of chronic increased pressure in the systemic arterial system.
	Depression Phenotype (Entity type)	Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover fr...
	Arthritis Phenotype (Entity type)	Inflammation of a joint.
	Dementia Phenotype (Entity type)	A loss of global cognitive ability of sufficient amount to interfere with normal social or occupatio...
	Hepatic failure Phenotype (Entity type)	A Phenotype
	Cholelithiasis Phenotype (Entity type)	Hard, pebble-like deposits that form within the gallbladder.
	Cachexia Phenotype (Entity type)	Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic d...
	Schizophrenia Phenotype (Entity type)	A mental disorder characterized by a disintegration of thought processes and emotional responsivenes...
	Osteoarthritis Phenotype (Entity type)	Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration ...
	Multiple myeloma Phenotype (Entity type)	A malignant plasma cell tumor growing within soft tissue or within the skeleton.

Hypertension

Phenotype (Entity type)

The presence of chronic increased pressure in the systemic arterial system.

Depression

Phenotype (Entity type)

Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover fr...

Arthritis

Phenotype (Entity type)

Inflammation of a joint.

Dementia

Phenotype (Entity type)

A loss of global cognitive ability of sufficient amount to interfere with normal social or occupatio...

Hepatic failure

Phenotype (Entity type)

A Phenotype

Cholelithiasis

Phenotype (Entity type)

Hard, pebble-like deposits that form within the gallbladder.

Cachexia

Phenotype (Entity type)

Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic d...

Schizophrenia

Phenotype (Entity type)

A mental disorder characterized by a disintegration of thought processes and emotional responsivenes...

Osteoarthritis

Phenotype (Entity type)

Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration ...

Multiple myeloma

Phenotype (Entity type)

A malignant plasma cell tumor growing within soft tissue or within the skeleton.

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The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.