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: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE A BRAF mutation was present in 82% of serrated carcinomas (SCas), 62% of serrated adenomas (SAs), 83% of serrated polyps with abnormal proliferation (SPAPs-syn. sessile serrated adenoma [SSA]), 76% of microvesicular serrated polyps (MVSPs), and was not found in any of the histologic categories of the traditional adenoma-carcinoma sequence. 17122504 2006
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE We consider pedunculated serrated polyp showing features of SSA/P as a previously undescribed form of serrated adenoma/polyp in the spectrum of serrated neoplasia, which might represent a pedunculated variant of SSA/P or a precursor lesion of proximally located traditional serrated adenomas in the earliest stage. 23648458 2013
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE The pattern of microRNAs in screen-detected polyps in relation to histologic features and cancer risk has not been investigated. miRNA expression analysis was performed on normal mucosa (NM), hyperplastic polyps (HP), tubular adenomas (TA), tubulovillous adenomas or high-grade dysplasia (TVHG), and serrated polyps [sessile serrated adenoma/polyps (SSA/P) and traditional serrated adenomas (TSA)] in biopsy specimens from 109 patients undergoing screening/surveillance colonoscopy. 27658891 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE For cancer risk, industrial sources and SSA posed the highest proportion. 31655327 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.100 GeneticVariation disease BEFREE Additionally, rs4963128 and rs2246614 were correlated with a variety of clinical subphenotypes, such as lupus nephritis, arthritis, and the production of anti-SSA/B autoantibodies, despite a lack of significant association between these two SNPs and SLE disease susceptibility in general. 21167895 2011
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.100 GeneticVariation disease BEFREE The rs10516487 and rs17266594 polymorphisms were significantly associated with high-titre ANA (≥1 : 320) and production of anti-SSA antibodies in SLE patients compared with the control subjects. 21078628 2011
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.100 GeneticVariation disease BEFREE We previously detected polymorphisms in the 52-kDa Ro/SSA gene (SSA1) with restriction enzymes, one of which is strongly associated with the presence of SLE (P < 0.0005) in African Americans. 7713506 1994
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.100 GeneticVariation disease BEFREE HCP5 rs3099844 is associated with SLE and with anti-Ro/SSA. 25369137 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE We consider pedunculated serrated polyp showing features of SSA/P as a previously undescribed form of serrated adenoma/polyp in the spectrum of serrated neoplasia, which might represent a pedunculated variant of SSA/P or a precursor lesion of proximally located traditional serrated adenomas in the earliest stage. 23648458 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE More importantly, comparing to the xenograft tumors derived from MDA-MB-231 cells with the wild-type TRIM21, xenograft tumors derived from MDA-MB-231 cells with the R64Q mutated TRIM21 showed greatly increased infiltration into neighboring muscle fibers. 31622717 2020
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 GeneticVariation disease BEFREE In the sera of these three women circulating anti-SS-A (Ro) antibodies were detected, which are known to be associated with congenital heart block. 1881495 1991
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 GeneticVariation disease BEFREE Association of Natural Killer Cell Ligand Polymorphism HLA-C Asn80Lys With the Development of Anti-SSA/Ro-Associated Congenital Heart Block. 29045069 2017
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 GeneticVariation disease BEFREE While the relationship between maternal connective tissue diseases and neonatal rashes was described in the 1960s and congenital heart block in the 1970s, the "culprit" antibody reactivity to the SSA/Ro-SSB/La ribonucleoprotein complex was not identified until the 1980s. 28709760 2017
CUI: C0149530
Disease: Congenital heart block
Congenital heart block
0.100 GeneticVariation disease BEFREE Congenital complete heart block (CCHB) occurs in the offspring of mothers who have the HLA-A1;B8; DR3 haplotype and Ro (SS-A) autoantibodies. 2818659 1989
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome
0.100 GeneticVariation disease BEFREE 7216A/G polymorphism of SSA1 gene may be one of the genetic factors that determine the presence of anti-SS-A/Ro52 antibody in patients with primary SS. 16095123 2005
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.100 GeneticVariation disease BEFREE Conversely, maternal HLA-DQB1*0602 carried on HLA-DR2 haplotypes was associated with CHB but not cutaneous NLE; (ii) HLA-DQA1 alleles with glutamine at position 34 of the first domain, which have reportedly been associated with the autoimmune responses to Ro/SSA antigens in other ethnic groups, were increased in the mothers of infants with cutaneous involvement; and (iii) there was no particular class II HLA profile that distinguished the disease manifestations in infants. 9182815 1997
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.100 GeneticVariation disease BEFREE HLA-DRB1*04 and HLA-Cw*05 were identified as novel foetal HLA allele variants that confer susceptibility to CHB in response to Ro/SSA autoantibody exposure, whilst DRB1*13 and Cw*06 emerged as protective alleles. 24354957 2014
Neonatal Systemic lupus erythematosus
0.100 GeneticVariation disease BEFREE Conversely, maternal HLA-DQB1*0602 carried on HLA-DR2 haplotypes was associated with CHB but not cutaneous NLE; (ii) HLA-DQA1 alleles with glutamine at position 34 of the first domain, which have reportedly been associated with the autoimmune responses to Ro/SSA antigens in other ethnic groups, were increased in the mothers of infants with cutaneous involvement; and (iii) there was no particular class II HLA profile that distinguished the disease manifestations in infants. 9182815 1997
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome
0.100 GeneticVariation disease BEFREE Our data demonstrated that the functional variant, rs10774671, is associated with HBV infection and anti-SSA antibody-positive SS. 29242559 2017
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
Sessile Serrated Adenoma/Polyp
0.100 GeneticVariation disease BEFREE The histopathological characteristics of colorectal submucosal invasive carcinoma arising in sessile serrated adenoma/polyp (SSA/P), a rare malignant tumour, have not yet been fully elucidated. 28929387 2018
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
Sessile Serrated Adenoma/Polyp
0.100 GeneticVariation disease BEFREE We aimed to compare the gut microbiome between tubular adenoma (TA) and sessile serrated adenoma/polyp (SSA/P). 27125587 2016
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
Sessile Serrated Adenoma/Polyp
0.100 GeneticVariation disease BEFREE Histopathological diagnoses of the LSTs were as follows: tubular adenoma, 12 cases (57%); sessile serrated adenoma/polyp (SSA/P), 4 cases (19%); Tis carcinoma, 1 case (5%); and T1 carcinoma, 4 cases (19 LSTs were found in the following locations: cecum, 1 case (5%); ascending colon, 6 cases (29%); transverse colon, 6 cases, (29%); descending colon, 1 case (5%); sigmoid colon, 3 cases (13%); and rectum, 4 cases (19%). 28052292 2017
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
Sessile Serrated Adenoma/Polyp
0.100 GeneticVariation disease BEFREE Sessile serrated adenoma/polyp (SSA/P) was a risk factor for VMX/+ margin in CSP specimens (OR 58.36, 95% CI 7.45-456.96, p < 0.001). 29516270 2018
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
Sessile Serrated Adenoma/Polyp
0.100 GeneticVariation disease BEFREE In this report, we focused on colorectal adenoma (tubular or tubulovillous adenoma), or tubular early carcinoma or type 2 adenocarcinoma, familial adenomatous polyposis (FAP), ulcerative colitis-associated tumor (UCAT), and sessile serrated adenoma/polyp (SSA/P). 29564561 2018