HGNC Family | Ion channels, Gamma-aminobutyric acid (GABA) receptors |
Name | gamma-aminobutyric acid (GABA) A receptor, rho 1 |
Description | GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] |
Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The gamma‐aminobutyric acid receptor rho1 subunit (GABRR1) is a distinct component of the GABA receptor family that mediates inhibitory signaling and appears to play diverse roles in both neural and non‐neural tissues. In the nervous system, variation in GABRR1 has been associated with neuropsychiatric phenotypes—its allelic variants and haplotypes have been linked to alcohol dependence and to bipolar disorder with schizoaffective features, and gene–environment interaction analyses implicate it in modulating depressive symptoms in response to parenting factors."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " In addition, beyond its canonical functions in retinal and synaptic inhibition, recent evidence indicates that GABRR1 is expressed on subsets of hematopoietic stem cells and megakaryocyte progenitors, where it modulates differentiation and influences platelet generation; indeed, loss of GABRR1 function reduces megakaryocyte progenitor differentiation and lowers circulating platelet numbers, while its overexpression or pharmacologic stimulation promotes megakaryocytic colony formation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Collectively, these findings underscore the multifaceted roles of GABRR1—from regulating synaptic inhibition and contributing to the genetic risk of psychiatric disorders, to mediating important aspects of hematopoietic differentiation—and highlight its potential as a target for therapeutic intervention across distinct clinical domains.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Xiaoling Xuei, Leah Flury-Wetherill, Danielle Dick, et al. "}, {"type": "b", "children": [{"type": "t", "text": "GABRR1 and GABRR2, encoding the GABA-A receptor subunits rho1 and rho2, are associated with alcohol dependence."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet B Neuropsychiatr Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.b.30995"}], "href": "https://doi.org/10.1002/ajmg.b.30995"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19536785"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19536785"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Elaine K Green, Detelina Grozeva, Valentina Moskvina, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorder."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet B Neuropsychiatr Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.b.31108"}], "href": "https://doi.org/10.1002/ajmg.b.31108"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20583128"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20583128"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Evelien Van Assche, Tim Moons, Ozan Cinar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gene-based interaction analysis shows GABAergic genes interacting with parenting in adolescent depressive symptoms."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Child Psychol Psychiatry (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/jcpp.12766"}], "href": "https://doi.org/10.1111/jcpp.12766"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28660714"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28660714"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Fangfang Zhu, Mingye Feng, Rahul Sinha, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The GABA receptor GABRR1 is expressed on and functional in hematopoietic stem cells and megakaryocyte progenitors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1906251116"}], "href": "https://doi.org/10.1073/pnas.1906251116"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31451629"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31451629"}]}]}]}
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Proteins | GBRR1_HUMAN |
NCBI Gene ID | 2569 |
API | |
Download Associations | |
Predicted Functions |
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Co-expressed Genes |
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Expression in Tissues and Cell Lines |
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GABRR1 has 3,111 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 102 datasets.
Click the + buttons to view associations for GABRR1 from the datasets below.
If available, associations are ranked by standardized value
Dataset | Summary | |
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Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of GABRR1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles | tissues with high or low expression of GABRR1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray | tissue samples with high or low expression of GABRR1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of GABRR1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
BioGPS Cell Line Gene Expression Profiles | cell lines with high or low expression of GABRR1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset. | |
BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of GABRR1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of GABRR1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of GABRR1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of GABRR1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
CellMarker Gene-Cell Type Associations | cell types associated with GABRR1 gene from the CellMarker Gene-Cell Type Associations dataset. | |
ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of GABRR1 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
ChEA Transcription Factor Targets | transcription factors binding the promoter of GABRR1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of GABRR1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of GABRR1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing GABRR1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing GABRR1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with GABRR1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with GABRR1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
COSMIC Cell Line Gene Mutation Profiles | cell lines with GABRR1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
CTD Gene-Chemical Interactions | chemicals interacting with GABRR1 gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
CTD Gene-Disease Associations | diseases associated with GABRR1 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
dbGAP Gene-Trait Associations | traits associated with GABRR1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. | |
DepMap CRISPR Gene Dependency | cell lines with fitness changed by GABRR1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving GABRR1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with GABRR1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with GABRR1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with GABRR1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
DisGeNET Gene-Disease Associations | diseases associated with GABRR1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
DrugBank Drug Targets | interacting drugs for GABRR1 protein from the curated DrugBank Drug Targets dataset. | |
ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at GABRR1 gene from the ENCODE Histone Modification Site Profiles dataset. | |
ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of GABRR1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
ENCODE Transcription Factor Targets | transcription factors binding the promoter of GABRR1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing GABRR1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
GAD Gene-Disease Associations | diseases associated with GABRR1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
GAD High Level Gene-Disease Associations | diseases associated with GABRR1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset. | |
GDSC Cell Line Gene Expression Profiles | cell lines with high or low expression of GABRR1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset. | |
GeneRIF Biological Term Annotations | biological terms co-occuring with GABRR1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing GABRR1 from the GeneSigDB Published Gene Signatures dataset. | |
GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of GABRR1 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of GABRR1 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of GABRR1 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of GABRR1 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of GABRR1 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of GABRR1 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
GO Biological Process Annotations 2015 | biological processes involving GABRR1 gene from the curated GO Biological Process Annotations 2015 dataset. | |
GO Biological Process Annotations 2023 | biological processes involving GABRR1 gene from the curated GO Biological Process Annotations 2023 dataset. | |
GO Biological Process Annotations 2025 | biological processes involving GABRR1 gene from the curated GO Biological Process Annotations2025 dataset. | |
GO Cellular Component Annotations 2015 | cellular components containing GABRR1 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
GO Cellular Component Annotations 2023 | cellular components containing GABRR1 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
GO Cellular Component Annotations 2025 | cellular components containing GABRR1 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
GO Molecular Function Annotations 2015 | molecular functions performed by GABRR1 gene from the curated GO Molecular Function Annotations 2015 dataset. | |
GO Molecular Function Annotations 2023 | molecular functions performed by GABRR1 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
GO Molecular Function Annotations 2025 | molecular functions performed by GABRR1 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
GTEx eQTL 2025 | SNPs regulating expression of GABRR1 gene from the GTEx eQTL 2025 dataset. | |
GTEx Tissue Gene Expression Profiles | tissues with high or low expression of GABRR1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of GABRR1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of GABRR1 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
Guide to Pharmacology Chemical Ligands of Receptors | ligands (chemical) binding GABRR1 receptor from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset. | |
GWASdb SNP-Disease Associations | diseases associated with GABRR1 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
GWASdb SNP-Phenotype Associations | phenotypes associated with GABRR1 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of GABRR1 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
HMDB Metabolites of Enzymes | interacting metabolites for GABRR1 protein from the curated HMDB Metabolites of Enzymes dataset. | |
HPA Tissue Gene Expression Profiles | tissues with high or low expression of GABRR1 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of GABRR1 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
Hub Proteins Protein-Protein Interactions | interacting hub proteins for GABRR1 from the curated Hub Proteins Protein-Protein Interactions dataset. | |
HuGE Navigator Gene-Phenotype Associations | phenotypes associated with GABRR1 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
InterPro Predicted Protein Domain Annotations | protein domains predicted for GABRR1 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of GABRR1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
KEA Substrates of Kinases | kinases that phosphorylate GABRR1 protein from the curated KEA Substrates of Kinases dataset. | |
KEGG Pathways | pathways involving GABRR1 protein from the KEGG Pathways dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of GABRR1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles | cell lines with GABRR1 gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. | |
KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of GABRR1 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of GABRR1 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
LOCATE Curated Protein Localization Annotations | cellular components containing GABRR1 protein in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset. | |
LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain GABRR1 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by GABRR1 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of GABRR1 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset. | |
MPO Gene-Phenotype Associations | phenotypes of transgenic mice caused by GABRR1 gene mutations from the MPO Gene-Phenotype Associations dataset. | |
MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations | gene perturbations changing expression of GABRR1 gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset. | |
NURSA Protein Complexes | protein complexs containing GABRR1 protein recovered by IP-MS from the NURSA Protein Complexes dataset. | |
Pathway Commons Protein-Protein Interactions | interacting proteins for GABRR1 from the Pathway Commons Protein-Protein Interactions dataset. | |
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of GABRR1 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of GABRR1 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
PFOCR Pathway Figure Associations 2023 | pathways involving GABRR1 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
PFOCR Pathway Figure Associations 2024 | pathways involving GABRR1 protein from the Wikipathways PFOCR 2024 dataset. | |
Reactome Pathways 2014 | pathways involving GABRR1 protein from the Reactome Pathways dataset. | |
Reactome Pathways 2024 | pathways involving GABRR1 protein from the Reactome Pathways 2024 dataset. | |
Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at GABRR1 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of GABRR1 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of GABRR1 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
SynGO Synaptic Gene Annotations | synaptic terms associated with GABRR1 gene from the SynGO Synaptic Gene Annotations dataset. | |
Tabula Sapiens Gene-Cell Associations | cell types with high or low expression of GABRR1 gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset. | |
TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of GABRR1 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of GABRR1 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of GABRR1 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of GABRR1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of GABRR1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with GABRR1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with GABRR1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
WikiPathways Pathways 2014 | pathways involving GABRR1 protein from the Wikipathways Pathways 2014 dataset. | |
WikiPathways Pathways 2024 | pathways involving GABRR1 protein from the WikiPathways Pathways 2024 dataset. | |