Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.010 Biomarker BEFREE Here, we compared the BCR repertoire in systemic lupus erythematosus, anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis, Crohn's disease, Behçet's disease, eosinophilic granulomatosis with polyangiitis, and immunoglobulin A (IgA) vasculitis by analysing BCR clonality, use of immunoglobulin heavy-chain variable region (IGHV) genes and-in particular-isotype use. 31554970

2019

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C0475801
Disease: Leukemia, Prolymphocytic, B-Cell
Leukemia, Prolymphocytic, B-Cell
0.010 GeneticVariation BEFREE The majority of B-PLL used the IGHV3 or IGHV4 subgroups (89%) and displayed significantly mutated IGHV genes (79%). 31527074

2019

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C0855139
Disease: Monocytoid B-cell lymphoma
Monocytoid B-cell lymphoma
0.010 Biomarker BEFREE Finally, the disease-specific survival and the progression-free survival were significantly different between cases with mutated and unmutated IGHV genes, pointing out mutational status as a possible new biomarker in NMZL. 31802229

2019

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C0085183
Disease: Neoplasms, Second Primary
Neoplasms, Second Primary
0.010 GeneticVariation BEFREE At diagnosis, very young patients had a similar rate of adverse cytogenetics, IGHV mutation and ZAP70 expression and had lower beta-2-microglobulin and a lower incidence of second malignancies. 29316456

2018

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections
0.010 Biomarker BEFREE Binet stage, blood lymphocyte level, TP53 abnormality, unmutated IGHV, prior HBV, and EBV infections were independently associated with TTT in multivariate analyses. 29901220

2018

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.010 AlteredExpression BEFREE In the liver of PBC and ALD patients, (i) roughly 10% of the B lymphocytes were clonally related and highly expressed, and there were also lineages that underwent extensive clonal expansion; (ii) there was different use of IGHV/IGHJ segments between PBC and ALD, suggesting distinct Ag exposure backgrounds, but this did not lead to a significant difference in their clonal expansion level. 28834158

2018

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C0545080
Disease: Composite Lymphoma
Composite Lymphoma
0.010 GeneticVariation BEFREE Clonal relationships in CL and DL are commonly investigated by molecular analysis using mutational status with t(14;18)BCL2/IgH translocation and immunoglobulin heavy chain variable-region (IgV<sub>H</sub>) gene rearrangement. 29177642

2018

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis
0.010 GeneticVariation BEFREE Selection against amino acid exchanges was prominent in the framework region of IGHV clones from GPA tissue. 30054207

2018

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C0020981
Disease: Angioimmunoblastic Lymphadenopathy
Angioimmunoblastic Lymphadenopathy
0.010 Biomarker BEFREE Investigation of four AITLs by TET2 and IGHV gene sequencing of single microdissected B cells showed that between 10% and 60% of polyclonal B cells in AITL lymph nodes harboured the identical TET2 mutations of the respective T-cell lymphoma clone. 28337768

2017

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma
0.010 GeneticVariation BEFREE Investigation of four AITLs by TET2 and IGHV gene sequencing of single microdissected B cells showed that between 10% and 60% of polyclonal B cells in AITL lymph nodes harboured the identical TET2 mutations of the respective T-cell lymphoma clone. 28337768

2017

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia
0.010 Biomarker BEFREE Late onset HGG, more frequently recorded in patients with Rai stage I-II (p=0.001) and unmutated IGHV (p=0.001), was also associated with a higher rate of severe infections (p=0.002). 28292720

2017

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy
0.010 Biomarker BEFREE This association was maintained after adjusting for either FISH [hazard ratio (HR) 2·18; 95% CI 1·25-3·81; P = 0·006) or IGHV status (HR 2·02; 95% CI 1·11-3·69; P = 0·02) individually, but was attenuated when adjusting by both (HR 1·72; 95% CI 0·88-3·38; P = 0·11).These data demonstrate that CD49d-positive CLL patients experience a disease course dominated by lymphadenopathy. 28386906

2017

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 GeneticVariation BEFREE Our findings show, for the first time, a significant association between biased usage of autoreactive IGHV and somatic mutation of NF-κB regulators in MALT lymphoma, arguing for their cooperation in sustaining chronic B-cell receptor signalling and driving oncogenesis in lymphoma development. 28682481

2017

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C1850900
Disease: Familial primary gastric lymphoma
Familial primary gastric lymphoma
0.010 GeneticVariation BEFREE Our findings show, for the first time, a significant association between biased usage of autoreactive IGHV and somatic mutation of NF-κB regulators in MALT lymphoma, arguing for their cooperation in sustaining chronic B-cell receptor signalling and driving oncogenesis in lymphoma development. 28682481

2017

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
0.010 Biomarker BEFREE Chronic lymphocytic leukemias (CLLs) with unmutated (U-CLL) or mutated (M-CLL) IGHV have variable features of immunosuppression, possibly influenced by those CLL cells activated to produce interleukin 10 (IL-10). 27890932

2017

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE Similar patterns of IGHV-gene usage to those demonstrated here have been observed in inherited acute lymphoblastic leukaemia. 25752595

2015

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
Monoclonal Gammopathy of Undetermined Significance
0.010 GeneticVariation BEFREE Since MGUS generally precedes MM, these data suggest origins of MGUS and MM with IGHV gene mutational ICV from the same GC B-cell, arising via a distinctive pathway. 25929340

2015

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
Malformations of Cortical Development, Group II
0.010 Biomarker BEFREE Total proteome analysis identifies migration defects as a major pathogenetic factor in immunoglobulin heavy chain variable region (IGHV)-unmutated chronic lymphocytic leukemia. 25645933

2015

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C0002792
Disease: anaphylaxis
anaphylaxis
0.010 GeneticVariation BEFREE We therefore investigated IGHV mutations in IgE-associated sequences derived from ten individuals with a history of anaphylactic reactions to bee or wasp venom or peanut allergens. 24586993

2014

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma
0.010 GeneticVariation BEFREE 14q deletions are associated with trisomy 12, NOTCH1 mutations and unmutated IGHV genes in chronic lymphocytic leukemia and small lymphocytic lymphoma. 24729385

2014

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C0009812
Disease: Constitutional Symptom
Constitutional Symptom
0.010 GeneticVariation BEFREE At the time of presentation, AA patients had lower median hemoglobin levels (12.9 g/dL vs 13.7 g/dL), higher β2 microglobulin levels (2.7 mg/dL vs 2.4 mg/dL), greater frequency of constitutional symptoms (27% vs 10%), unmutated immunoglobulin heavy-chain variable region (IGHV) mutation status (65% vs 47%), ζ-chain-associated protein kinase 70 (ZAP70) expression (58% vs 32%), and deletion of chromosome 17p or chromosome 11q (28% vs 17%; P ≤ 02 for each comparison). 24022787

2013

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia
0.010 GeneticVariation BEFREE IGHV gene features and MYD88 L265P mutation separate the three marginal zone lymphoma entities and Waldenström macroglobulinemia/lymphoplasmacytic lymphomas. 22944768

2013

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
0.010 Biomarker BEFREE NOTCH1 mutation increased the risk of transformation to diffuse large B-cell lymphoma independently from IGHV, with this being validated in resampling tests of replicability. 23295735

2013

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C0002871
Disease: Anemia
Anemia
0.010 Biomarker BEFREE In SMZL, splenomegaly, anaemia and IGHV genes with >98% homology to the germline predicted the need for treatment; older age, anaemia and IGHV unmutated genes (100% homology) predicted shorter survival. 22594855

2012

Entrez Id: 28309
Gene Symbol: IGHV3OR16-7
IGHV3OR16-7
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
0.010 Biomarker BEFREE However, the rate of unmutated VH fragments in type 1 AIP (17%) was higher than that in obstructive pancreatitis (5.1%) (P= 0.010). 22524659

2012