LRRC32, leucine rich repeat containing 32, 2615

N. diseases: 58; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.110 GeneticVariation disease BEFREE We identified a homozygous stop-gain variant in LRRC32 (c.1630C>T; p.(Arg544Ter)) in two families with developmental delay, cleft palate, and proliferative retinopathy. 30976112 2019
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
0.110 GeneticVariation disease BEFREE Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay. 30976112 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.110 GeneticVariation disease CLINVAR
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
0.110 GeneticVariation disease CLINVAR
CUI: C0019360
Disease: Herpes zoster disease
Herpes zoster disease
0.100 GeneticVariation group GWASCAT The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype. 30298529 2019
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction
0.100 GeneticVariation phenotype GWASDB A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. 23817569 2013
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration
0.100 GeneticVariation disease CLINVAR
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 AlteredExpression group BEFREE Thus, GARP empowers the functionality of Treg cells and their tissue-specific accumulation, highlighting the importance of cell surface TGFβ in Treg function and GARP as a potential therapeutic target for colorectal cancer therapy.<b>Significance:</b> These findings uncover functions of membrane-bound TGFβ and GARP that tune the activity of Treg cells, highlighting a potential treatment strategy in autoimmune diseases and cancer. 30674536 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 Biomarker group BEFREE These results, if confirmed by independent investigations, will aid in devising personalized GARP-based immunotherapeutic strategies against breast cancer and other GARP-overexpressing malignancies. 29879453 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 Biomarker group BEFREE While GARP is implicated in immune invasion in cancer, the roles of the GARP-TGF-β axis in systemic autoimmune diseases are unknown. 29618665 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 Biomarker group BEFREE The promise for GARP-targeted strategy as a novel immunotherapy of cancer is also highlighted. 29458436 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 Biomarker group BEFREE Platelets subvert T cell immunity against cancer via GARP-TGFβ axis. 28763790 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.060 Biomarker group BEFREE As Treg-derived TGF-β may mediate the suppressive functions of Tregs, GARP may represent a target to inhibit Treg suppression in cancer or augment suppression in autoimmunity. 28001437 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 AlteredExpression group BEFREE Thus, GARP empowers the functionality of Treg cells and their tissue-specific accumulation, highlighting the importance of cell surface TGFβ in Treg function and GARP as a potential therapeutic target for colorectal cancer therapy.<b>Significance:</b> These findings uncover functions of membrane-bound TGFβ and GARP that tune the activity of Treg cells, highlighting a potential treatment strategy in autoimmune diseases and cancer. 30674536 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 Biomarker group BEFREE Deletion of GARP on mouse regulatory T cells is not sufficient to inhibit the growth of transplanted tumors. 30093071 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 Biomarker group BEFREE While GARP is implicated in immune invasion in cancer, the roles of the GARP-TGF-β axis in systemic autoimmune diseases are unknown. 29618665 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 Biomarker group BEFREE The promise for GARP-targeted strategy as a novel immunotherapy of cancer is also highlighted. 29458436 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 GeneticVariation group BEFREE Platelet-specific deletion of the GARP-encoding gene <i>Lrrc32</i> blunted TGFβ activity at the tumor site and potentiated protective immunity against both melanoma and colon cancer. 28763790 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 Biomarker group BEFREE As Treg-derived TGF-β may mediate the suppressive functions of Tregs, GARP may represent a target to inhibit Treg suppression in cancer or augment suppression in autoimmunity. 28001437 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 Biomarker group BEFREE Platelets subvert T cell immunity against cancer via GARP-TGFβ axis. 28763790 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 AlteredExpression group BEFREE Interestingly, membrane bound GARP is shed from the surface of both, activated Treg and melanoma cells, and, in its soluble form (sGARP), not only induces peripheral Treg but also a tumor associated (M2) macrophage phenotype. 27248166 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.050 Biomarker group BEFREE Apart from the known differentially expressed genes on 11q13 (e.g., phosphofurin acidic cluster sorting protein 1 (PACS1) and FOS ligand 1 (FOSL1 or Fra-1)), we detected novel differentially expressed cellular genes located within the tumor suppressor gene region (e.g., EGF-containing fibulin-like extracellular matrix protein 2 (EFEMP2) and leucine rich repeat containing 32 (LRRC32) (also known as glycoprotein-A repetitions predominant (GARP)) that may have potential tumor suppressor functions in this model system of non-tumorigenic and tumorigenic HeLa x fibroblast hybrid cells. 24042169 2013
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.050 Biomarker disease BEFREE To identify regulating genes in innate immunity, we analyzed data from a genome-wide linkage scan using microsatellites in osteoarthritis (OA) patients (The GARP study) and their innate cytokine data on interleukin (IL)-1beta, IL-1Ra, IL-10 and tumor necrosis factor (TNF)alpha. 20407468 2010
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.050 Biomarker disease BEFREE Allele-sharing methods were applied to the symptomatic osteoarthritis GARP study where taking into account the family-history increased considerably the evidence of linkage in the region of the DIO2 susceptibility locus. 20707788 2010
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.050 GeneticVariation disease BEFREE To identify a new osteoarthritis susceptibility locus, a genome-wide linkage scan and combined linkage association analysis were applied to 179 affected siblings and four trios with generalized osteoarthritis (The GARP study). 18334578 2008