MALT1, MALT1 paracaspase, 10892

N. diseases: 148; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809583
Disease: IMMUNODEFICIENCY 12
IMMUNODEFICIENCY 12
0.700 GeneticVariation disease UNIPROT A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. 23727036 2013
CUI: C3809583
Disease: IMMUNODEFICIENCY 12
IMMUNODEFICIENCY 12
0.700 Biomarker disease CTD_human
CUI: C3809583
Disease: IMMUNODEFICIENCY 12
IMMUNODEFICIENCY 12
0.700 CausalMutation disease CLINVAR
CUI: C3809583
Disease: IMMUNODEFICIENCY 12
IMMUNODEFICIENCY 12
0.700 GermlineCausalMutation disease ORPHANET A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. 23727036 2013
CUI: C3809583
Disease: IMMUNODEFICIENCY 12
IMMUNODEFICIENCY 12
0.700 GermlineCausalMutation disease ORPHANET Combined immunodeficiency associated with homozygous MALT1 mutations. 24332264 2014
CUI: C3809583
Disease: IMMUNODEFICIENCY 12
IMMUNODEFICIENCY 12
0.700 Biomarker disease GENOMICS_ENGLAND Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation. 25627829 2015
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 GeneticVariation disease BEFREE The t(14;18)(q32;q21) involving the IGH and the MALT1 gene has previously been described in PCMZL, whereas the t(14;18)(q32;q21) IGH/BCL2 seems to be restricted to follicular lymphoma and diffuse large B-cell lymphoma. 17519619 2007
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 GeneticVariation disease BEFREE A possible API2-MLT fusion transcript specific to t(11;18)(q21;q21) was examined by means of reverse transcription-polymerase chain reaction (RT-PCR) in tumours from 47 cases of primary gastrointestinal lymphoma (28 low grade mucosa associated lymphoid tissue (MALT) lymphomas, four low grade MALT lymphomas with a high grade component, nine secondary diffuse large B cell lymphomas, four primary diffuse large B cell lymphomas, and two T cell lymphomas). 12499431 2003
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 AlteredExpression disease BEFREE This study aimed to assess the effects of phorbol myristate acetate/ionomycin (PMA/IONO) on the growth and apoptosis of the DLBCL cell line OCI-LY1, and their associations with A20, MALT1 and survivin levels. 27349720 2016
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 GeneticVariation disease BEFREE We investigated p16 gene methylation and mutation in a large series of untreated cases of pulmonary MALT lymphoma and diffuse large B-cell lymphoma (DLBL), and correlated p16 gene alterations with a MALT lymphoma-specific API2-MALT1 fusion and the clinicopathologic features of MALT lymphoma. 15832193 2005
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 AlteredExpression disease BEFREE HOIL1 is also constitutively processed in the 'activated B-cell-like' (ABC) subtype of diffuse large B-cell lymphoma (DLBCL), which exhibits aberrant MALT1 activity. 27006117 2016
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 GeneticVariation disease BEFREE API2-MALT1 fusion genes were detected in seven cases (15%) of MALT lymphoma and one case (8%) of diffuse large B-cell lymphoma. 14681324 2003
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 GeneticVariation disease BEFREE In the present study, the frequency of the numeric and structural aberrations of the chromosomes 1, 3, 12, 18 and X and of the MALT1 gene as well as their potential clinical significance were analyzed by using fluorescent in situ hybridization on a tissue microarray containing 257 tissue samples from 203 cases of surgically resected primary gastric lymphomas including 115 cases of MALT lymphomas, 88 cases of diffuse large B-cell lymphomas (DLBCLs, 75 with an associated MALT lymphoma, so-called ex-MALT DLBCL, and 13 de novo), and 54 controls cases of Helicobacter pylori-associated chronic gastritis. 18234275 2008
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 AlteredExpression disease BEFREE Gain of chromosome region 18q21 including the MALT1 gene is associated with the activated B-cell-like gene expression subtype and increased BCL2 gene dosage and protein expression in diffuse large B-cell lymphoma. 18367485 2008
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 GeneticVariation disease BEFREE A novel fusion of the MALT1 gene and the microtubule-associated protein 4 (MAP4) gene occurs in diffuse large B-cell lymphoma. 16804917 2006
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 Biomarker disease BEFREE Although these findings suggest that t(14;18)/IGH-MALT1 is a rare molecular event in gastrointestinal MALT lymphomas and DLBCLs, further studies to elucidate the role of this genetic alteration in these diseases are indicated. 24236896 2014
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 GeneticVariation disease BEFREE Combinatorial BTK and MALT1 inhibition augments killing of CD79 mutant diffuse large B cell lymphoma. 26540570 2015
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 Biomarker disease BEFREE The aggressive activated B-cell like (ABC) subtype of diffuse large B-cell lymphoma (DLBCL) exploits a multi-protein complex of CARMA1, BCL10, and MALT1 (CBM complex), which normally conveys NF-κB signaling upon antigen receptors engagement. 30474008 2018
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 AlteredExpression disease BEFREE The API2--MALT1 fusion transcript was not detected in H pylori gastritis and mucosal DLBCL but was found in 25 of 72 (35%) MALT lymphomas of various sites. 11493468 2001
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 Biomarker disease BEFREE We analyzed the genetic alterations and protein expression of MYC, BCL2, BCL6, and MALT1 in 219 cases of diffuse large B-cell lymphoma. 23716551 2013
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 GeneticVariation disease BEFREE Chronic active B cell receptor (BCR) signaling, a hallmark of the activated B cell-like (ABC) subtype of diffuse large B cell lymphoma (DLBCL), engages the CARD11-MALT1-BCL10 (CBM) adapter complex to activate IκB kinase (IKK) and the classical NF-κB pathway. 27070702 2016
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 GeneticVariation disease BEFREE This is the first report of an IGH-MALT1 translocation in DLBCL. 14652825 2003
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 GeneticVariation disease BEFREE The biological significance of BAFF signalling in t(11;18)(q21;q21)-negative lymphoma cells was further studied in two types of lymphoma B cell: OCI-Ly3 [non-germinal centre B-cell origin DLBCL without t(11;18)(q21;q21) cell line] and MA-1 [t(14;18)(q32;q21)/IGH-MALT1-positive DLBCL cell line]. 27873317 2017
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 GeneticVariation disease BEFREE Gastric MALTs showed frequent API2-MALT1 (38%) but not IGH translocations (0%), and the DLBCLs showed neither translocation. 22742986 2012
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.400 Biomarker disease BEFREE Translocations involving IGH were detected in 36 (32%) of 111 cases; their partner genes included BCL6 (n = 10), c-MYC (n = 5), and FOXP1 (n = 3) but remained unknown in the remaining 18 cases. t(14;18)/IGH-BCL2, t(14;18)/IGH-MALT1, and t(1;14)/BCL10-IGH were not detected in any case. t(11;18)/API2-MALT1 was detected in none of the cases, except for one case of DLBCL with MALT lymphoma, which showed positive signals only in MALT lymphoma cells. 18445693 2008