TRIM21, tripartite motif containing 21, 6737

N. diseases: 229; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149530
Disease: Congenital heart block
Congenital heart block 		0.100 Biomarker disease BEFREE Congenital heart block (CHB) may develop in fetuses of Ro/SSA autoantibody-positive women. 30808622 2019
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		0.100 Biomarker disease BEFREE Primary Sjögren's syndrome is associated with a markedly increased risk of cardiovascular disease and the presence of Ro/SSA and La/SSB autoantibodies identify the subgroup of patients carrying the highest risk. 31127862 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE Cancer-associated mutation abolishes the impact of TRIM21 on the invasion of breast cancer cells. 31622717 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.080 GeneticVariation group BEFREE Cancer-associated mutation abolishes the impact of TRIM21 on the invasion of breast cancer cells. 31622717 2020
CUI: C0406637
Disease: Erythema multiforme-like lupus erythematosus
Erythema multiforme-like lupus erythematosus 		0.010 Biomarker disease BEFREE Rowell syndrome (RS) is a rare disease characterized by the association of systemic lupus erythematosus (SLE) or cutaneous lupus with lesions similar to erythema multiforme and the presence of autoantibodies including ANA, SSA, SSB, or rheumatoid factor. 31674268 2019
CUI: C1266025
Disease: Traditional Serrated Adenoma
Traditional Serrated Adenoma 		0.040 Biomarker disease BEFREE Traditional serrated adenoma (TSA) remains the least understood of all the colorectal adenomas, although these lesions have been associated with a significant cancer risk, twice that of the conventional adenoma (CAD) and of the sessile serrated adenoma (SSA/P). 31729028 2020
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.100 Biomarker disease BEFREE Systemic lupus erythematosus is associated with the presence of autoantibodies which bind several ribonucleoproteins, including Ro (or SS-A). 7531629 1995
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.100 Biomarker disease BEFREE Systemic lupus erythematosus (SLE) is an autoimmune disorder characterized by production of autoantibodies against intracellular antigens including DNA, ribosomal P, Ro (SS-A), La (SS-B), and the spliceosome. 9843982 1998
CUI: C0149530
Disease: Congenital heart block
Congenital heart block 		0.100 Biomarker disease BEFREE Ro/SSA autoantibodies directly bind cardiomyocytes, disturb calcium homeostasis, and mediate congenital heart block. 15630133 2005
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		0.020 AlteredExpression disease BEFREE Ro52 was upregulated in experimentally photoprovoked CLE lesions as observed by immunohistochemistry in sequential biopsies, which was confirmed in vitro both at the mRNA and protein levels by exposing cultured patient-derived primary keratinocytes to UVR. 19194477 2009
CUI: C0265797
Disease: Congenital emphysema
Congenital emphysema 		0.020 AlteredExpression disease BEFREE Ro52 was upregulated in experimentally photoprovoked CLE lesions as observed by immunohistochemistry in sequential biopsies, which was confirmed in vitro both at the mRNA and protein levels by exposing cultured patient-derived primary keratinocytes to UVR. 19194477 2009
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		0.020 AlteredExpression disease BEFREE Ro52 was upregulated in experimentally photoprovoked CLE lesions as observed by immunohistochemistry in sequential biopsies, which was confirmed in vitro both at the mRNA and protein levels by exposing cultured patient-derived primary keratinocytes to UVR. 19194477 2009
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		0.100 Biomarker disease BEFREE Ro52/Trim21 is targeted as an autoantigen in systemic lupus erythematosus and Sjögren's syndrome. 19635858 2009
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.030 Biomarker group BEFREE TRIM21 is mainly found in hematopoietic cells in which its expression is induced by IFNs during viral. infections and in systemic autoimmune diseases such as systemic lupus erythematosus and Sjögren's syndrome. 23975864 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.100 Biomarker group BEFREE TRIM21 is mainly found in hematopoietic cells in which its expression is induced by IFNs during viral. infections and in systemic autoimmune diseases such as systemic lupus erythematosus and Sjögren's syndrome. 23975864 2013
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.100 Biomarker disease BEFREE TRIM21 is mainly found in hematopoietic cells in which its expression is induced by IFNs during viral. infections and in systemic autoimmune diseases such as systemic lupus erythematosus and Sjögren's syndrome. 23975864 2013
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		0.100 Biomarker disease BEFREE TRIM21 is mainly found in hematopoietic cells in which its expression is induced by IFNs during viral. infections and in systemic autoimmune diseases such as systemic lupus erythematosus and Sjögren's syndrome. 23975864 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.070 Biomarker disease BEFREE TRIM21, a negative modulator of LFG in breast carcinoma MDA-MB-231 cells in vitro. 26398169 2015
CUI: C4082937
Disease: Necrotizing enterocolitis in fetus OR newborn
Necrotizing enterocolitis in fetus OR newborn 		0.010 GeneticVariation disease BEFREE TRIM21 (rs660) was associated with NEC-related intestinal perforation (p = 0.038; OR = 4.65, 95% CI 1.09-19.78). 26670709 2015
CUI: C0021845
Disease: Intestinal Perforation
Intestinal Perforation 		0.010 GeneticVariation disease BEFREE TRIM21 (rs660) was associated with NEC-related intestinal perforation (p = 0.038; OR = 4.65, 95% CI 1.09-19.78). 26670709 2015
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.100 AlteredExpression group BEFREE TRIM21 is a RING finger domain-containing ubiquitin E3 ligase whose expression is elevated in autoimmune disease. 26942676 2016
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.100 Biomarker group BEFREE Tripartite motif-containing protein 21 (TRIM21) regulates pro-inflammatory cytokines and type I interferons and acts as an autoantigen in certain autoimmune diseases, but TRIM21 has not been investigated in psoriasis. 27943421 2017
CUI: C0409979
Disease: Neonatal Systemic lupus erythematosus
Neonatal Systemic lupus erythematosus 		0.100 Biomarker disease BEFREE Ro52 autoantibodies arise from self-reactive progenitors in a mother of a child with neonatal lupus. 28118945 2017
CUI: C0040558
Disease: Toxoplasmosis
Toxoplasmosis 		0.010 Biomarker disease BEFREE TRIM21 is critical for survival of Toxoplasma gondii infection and localises to GBP-positive parasite vacuoles. 28701773 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.100 Biomarker disease BEFREE Ro52/TRIM21 plays a key role in antibody-dependent pathogen neutralization and is a major autoantigen in systemic lupus erythematosus, Sjögren's syndrome (SS), and other autoimmune diseases. 29463848 2018