Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Mucosa-Associated Lymphoid Tissue Lymphoma
0.020 GeneticVariation disease BEFREE The list is now growing with the report of increased frequency of inactivating mutations in the TNFAIP3 gene in MALT lymphomas expressing IG receptors encoded by the IGHV4-34 gene, particularly of the ocular adnexa. 28892161 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.010 Biomarker disease BEFREE Furthermore, subset 4 IGs do not bind DNA nor i or I carbohydrate antigens, common targets of IGHV4-34-utilizing antibodies in systemic lupus erythematosus and cold agglutinin disease, respectively. 28097289 2017
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder
0.010 Biomarker phenotype BEFREE <b>Purpose:</b> We sought to investigate whether B cell receptor immunoglobulin (BcR IG) stereotypy is associated with particular clinicobiological features among chronic lymphocytic leukemia (CLL) patients expressing mutated BcR IG (M-CLL) encoded by the IGHV4-34 gene, and also ascertain whether these associations could refine prognostication.<b>Experimental Design:</b> In a series of 19,907 CLL cases with available immunogenetic information, we identified 339 IGHV4-34-expressing cases assigned to one of the four largest stereotyped M-CLL subsets, namely subsets #4, #16, #29 and #201, and investigated in detail their clinicobiological characteristics and disease outcomes.<b>Results:</b> We identified shared and subset-specific patterns of somatic hypermutation (SHM) among patients assigned to these subsets. 28536306 2017
CUI: C0175816
Disease: Cold Hemagglutinin Disease
Cold Hemagglutinin Disease
0.010 Biomarker disease BEFREE Furthermore, subset 4 IGs do not bind DNA nor i or I carbohydrate antigens, common targets of IGHV4-34-utilizing antibodies in systemic lupus erythematosus and cold agglutinin disease, respectively. 28097289 2017
CUI: C1850900
Disease: Familial primary gastric lymphoma
Familial primary gastric lymphoma
0.010 Biomarker disease BEFREE We showed that: (1) there was a significant association between the biased usage of IGHV4-34 (binds to the carbohydrate I/i antigens) and inactivating mutation of TNFAIP3 [encoding a global negative regulator of the canonical nuclear factor-κB (NF-κB) pathway] in ocular adnexal MALT lymphoma; (2) IGHV1-69 was significantly overrepresented (54%) in MALT lymphoma of the salivary gland, but was not associated with mutation in any of the 17 genes investigated; and (3) MALT lymphoma lacked mutations that are frequently seen in other B-cell lymphomas characterized by constitutive NF-κB activities, including mutations in CD79B, CARD11, MYD88, TNFRSF11A, and TRAF3. 28682481 2017
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.040 GeneticVariation disease BEFREE A molecularly defined IGHV4-34+ variant is also resistant whether HCL or HCLv immunophenotypically. 31068044 2019
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
0.010 Biomarker disease BEFREE These include IGHV4-34, known to produce autoreactive antibodies, and IGKV3-20, a feature described in other B-cell malignancies but not yet in BL. 30617194 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 Biomarker group BEFREE These include IGHV4-34, known to produce autoreactive antibodies, and IGKV3-20, a feature described in other B-cell malignancies but not yet in BL. 30617194 2019
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma
0.010 Biomarker disease BEFREE These include IGHV4-34, known to produce autoreactive antibodies, and IGKV3-20, a feature described in other B-cell malignancies but not yet in BL. 30617194 2019
CUI: C0278879
Disease: Childhood Burkitt Lymphoma
Childhood Burkitt Lymphoma
0.010 Biomarker disease BEFREE These include IGHV4-34, known to produce autoreactive antibodies, and IGKV3-20, a feature described in other B-cell malignancies but not yet in BL. 30617194 2019