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: C0024299
Disease: Lymphoma
Lymphoma
0.010 GeneticVariation group BEFREE <i>HCP5</i> rs3099844 was associated with anti-SSA (<i>P</i> = 0.006, OR = 3.07) and anti-SSB (<i>P</i> = 0.005, OR = 2.66) antibodies, severity of focus score (<i>P</i> = 0.03, OR = 12), and lymphoma development (<i>P</i> = 0.002, OR = 7.23). 30882006 2019
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
0.010 GeneticVariation disease BEFREE <i>HCP5</i> rs3099844 was associated with anti-SSA (<i>P</i> = 0.006, OR = 3.07) and anti-SSB (<i>P</i> = 0.005, OR = 2.66) antibodies, severity of focus score (<i>P</i> = 0.03, OR = 12), and lymphoma development (<i>P</i> = 0.002, OR = 7.23). 30882006 2019
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma
0.010 GeneticVariation disease BEFREE <i>HCP5</i> rs3099844 was associated with anti-SSA (<i>P</i> = 0.006, OR = 3.07) and anti-SSB (<i>P</i> = 0.005, OR = 2.66) antibodies, severity of focus score (<i>P</i> = 0.03, OR = 12), and lymphoma development (<i>P</i> = 0.002, OR = 7.23). 30882006 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 Biomarker phenotype BEFREE <i>SHISA3</i> suppressed NPC cell invasion and metastasis <i>in vitro</i> and <i>in vivo</i> by impeding the E3 ubiquitin ligase tripartite motif containing 21 (TRIM21)-mediated ubiquitination and degradation small G protein signaling modulator 1 (SGSM1) and by inhibiting the MAPK pathway activation. 30573520 2019
CUI: C3266123
Disease: Serrated polyp
Serrated polyp
0.010 GeneticVariation disease BEFREE (2) Proximal SDR (PSDR) meaning colonoscopies with any serrated polyp (SSA/P, HP, TSA) of any size proximal to the sigmoid colon divided by the total number of screening and surveillance colonoscopies, respectively. 28153571 2017
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors
0.020 AlteredExpression group BEFREE 5-HIAA = 5-hydroxyindoleacetic acid; CgA = chromogranin A; CI = confidence interval; CLARINET = Controlled Study of Lanreotide Antiproliferative Response in Neuroendocrine Tumors; CS = carcinoid syndrome; ELECT = Evaluation of Lanreotide Depot/Autogel Efficacy and Safety as a Carcinoid Syndrome Treatment; HR = hazard ratio; ITT = intention-to-treat; NET = neuroendocrine tumor; PanNET = pancreatic NET; PFS = progression-free survival; PPI = proton pump inhibitor; SSA = somatostatin analogue; ULN = upper limit of normal. 30084687 2018
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome
0.100 Biomarker disease BEFREE 70 patients with anti-SSA antibody positive SS were selected as the observation group, and the non-positive Sjogren syndrome (PSS) subjects were collected as the control group at the same time. 30070316 2018
Neonatal Systemic lupus erythematosus
0.100 Biomarker disease BEFREE Neonatal lupus erythematosus (NLE) is an inflammatory syndrome in the fetus or neonate associated with the presence of anti-Ro(SSA) and anti-La(SSB) antibodies in the mother. 10743829 2000
Neonatal Systemic lupus erythematosus
0.100 Biomarker disease BEFREE Neonatal lupus erythematosus (NLE) is a rare disease characterized by the transplacental passage from the mother to the fetus of autoantibodies, in particular anti-Ro(SS-A), anti-La(SS-B), or both. 10879307 2000
Neonatal Systemic lupus erythematosus
0.100 Biomarker disease BEFREE Neonatal lupus erythematosus is an immune-mediated disease associated with the transplacental passage of maternal autoantibodies, primarily anti-Ro (SS-A) and anti-La (SS-B). 12542254 2002
Neonatal Systemic lupus erythematosus
0.100 Biomarker disease BEFREE Neonatal lupus is linked to the presence of anti-Ro/SS-A and anti-La/SS-B antibodies in the mother, although other factors probably of fetal origin are important. 17153854 2006
Lupus Erythematosus, Subacute Cutaneous
0.030 Biomarker disease BEFREE Subacute cutaneous lupus erythematosus (SCLE) is a photosensitive form of lupus-specific skin lesion that is strongly associated with the presence of anti-Ro/SSA autoantibody. 18540991 2008
CUI: C0333983
Disease: Hyperplastic Polyp
Hyperplastic Polyp
0.100 Biomarker disease BEFREE Hyperplastic polyps (HPs) share some histologic and molecular characteristics with SSA/P, but it is unclear whether SSA/Ps are derived from HPs or whether they develop by a different pathogenetic pathway. 21836485 2011
CUI: C4520526
Disease: Serrated hyperplastic polyposis
Serrated hyperplastic polyposis
0.010 Biomarker disease BEFREE Serrated (hyperplastic) polyposis (SP) is a rare disorder with multiple colorectal hyperplastic polyps and often sessile serrated adenomas/polyps (SSA/P) or adenomas. 22490521 2013
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome
0.100 Biomarker disease BEFREE Primary Sjögren's syndrome (SS) is a systemic autoimmune inflammatory disease characterized by focal lymphocytic infiltrates in the lachrymal and salivary glands and autoantibodies against the SSA/Ro and SSB/La antigens. 23944604 2013
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
Sessile Serrated Adenoma/Polyp
0.100 GeneticVariation disease BEFREE Sessile serrated adenoma/polyp (SSA/P) is considered as an early precursor in the serrated neoplasia pathway leading to colorectal cancer development. 24925057 2015
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome
0.020 Biomarker disease BEFREE The syndrome is believed to be caused by transplacental passage of an IgG antibody, usually the anti-Ro (SS-A) antibody, from the mother to the infant. 2579661 1985
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
Sessile Serrated Adenoma/Polyp
0.100 GeneticVariation disease BEFREE Sessile serrated adenoma/polyp (SSA/P) is a colorectal polyp that has malignant potential. 27663716 2017
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
Sessile Serrated Adenoma/Polyp
0.100 Biomarker disease BEFREE Sessile serrated adenoma/polyps (SSA/P) are premalignant lesions of colorectal cancer that are difficult to distinguish histologically from hyperplastic polyps (HP) of minimal to no malignant potential. 27705923 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
Neonatal Systemic lupus erythematosus
0.100 Biomarker disease BEFREE Neonatal lupus: Follow-up in infants with anti-SSA/Ro antibodies and review of the literature. 28212920 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 Sessile serrated adenoma/polyp (SSA/P) is regarded as a genetically homogeneous entity, with most lesions harbouring the BRAF V600E mutation. 29920740 2018
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
Sessile Serrated Adenoma/Polyp
0.100 GeneticVariation disease BEFREE Sessile serrated adenoma/polyp (SSA/p) is a premalignant lesion in the colon and rectum. 30510949 2018
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
Sessile Serrated Adenoma/Polyp
0.100 Biomarker disease BEFREE Sessile serrated adenoma/polyps (SSA/P) are recognized as precancerous lesions in the colon and resemble hyperplastic polyps (HP). 30693669 2019