CBLB, Cbl proto-oncogene B, 868

N. diseases: 33; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.440 GeneticVariation disease GWASCAT Overexpression of the Cytokine BAFF and Autoimmunity Risk. 28445677 2017
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.440 GeneticVariation disease BEFREE Replication extended to the following polymorphisms: PKN2 (rs305217), GTF2B (rs7538427), EPHA4 (rs1517440), YTHDF3 (rs12115114), ANKFN1 (rs17758761) and PTPRM (rs4798571), which did not reach the threshold of significance in a follow-up of the first genome-wide association study (GWAS) conducted in multiple sclerosis; TMEM39A (rs1132200), which appeared as a newly identified susceptibility gene in the same study; a gene previously reaching GWAS significance in Italy, CBLB (rs9657904); IL12B (rs6887695, rs10045431), a susceptibility gene shared by diverse autoimmune diseases and, finally, another gene showing inconclusive association with multiple sclerosis, CNR1 (rs1049353). 22194214 2012
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.440 AlteredExpression disease BEFREE These data link expression of FOXP3, CBLB and ITCH mRNA and CTLA-4 expression on the surface of CD4(+) CD25(high) T cell in MS. We hypothesize that this may reflect alterations in the inhibitory effect of CTLA-4 or in regulatory T cell function. 23039885 2012
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.440 GeneticVariation disease BEFREE These data provide further evidence of the association of MS disease with variation within CBLB. 21037273 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.440 Biomarker disease BEFREE CBLB encodes a negative regulator of adaptive immune responses, and mice lacking the ortholog are prone to experimental autoimmune encephalomyelitis, the animal model of multiple sclerosis. 20453840 2010
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.440 GeneticVariation disease GWASCAT Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. 20453840 2010
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.440 GeneticVariation disease GWASDB Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. 20453840 2010
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.440 Biomarker disease CTD_human Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. 20453840 2010
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.310 GeneticVariation disease BEFREE In summary, novel mutations in c-CBL and CBL-b have been identified in human AML and may represent potential targets for novel therapeutics. 17475912 2007
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.310 GeneticVariation disease LHGDN In summary, novel mutations in c-CBL and CBL-b have been identified in human AML and may represent potential targets for novel therapeutics. 17475912 2007
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.310 CausalMutation disease CGI
CUI: C0014072
Disease: Experimental Autoimmune Encephalomyelitis
Experimental Autoimmune Encephalomyelitis 		0.300 Biomarker disease CTD_human CBLB encodes a negative regulator of adaptive immune responses, and mice lacking the ortholog are prone to experimental autoimmune encephalomyelitis, the animal model of multiple sclerosis. 20453840 2010
CUI: C0751324
Disease: Multiple Sclerosis, Acute Fulminating
Multiple Sclerosis, Acute Fulminating 		0.300 Biomarker disease CTD_human Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. 20453840 2010
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.250 Biomarker disease BEFREE The interaction between UBASH3A and CBL-B may synergistically inhibit T cell function and affect risk for type 1 diabetes, as both genes have been shown to be associated with this autoimmune disease. 31659016 2019
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.250 GeneticVariation disease BEFREE Furthermore, evidence of a statistical interaction with the known T1D susceptibility-associated CTLA4 polymorphism rs3087243 (laboratory name CT60, G>A) was reported (P<0.0001), such that the CBLB SNP rs3772534 G allele was overtransmitted to offspring with the CTLA4 rs3087243 G/G genotype. 17209142 2007
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.250 GeneticVariation disease BEFREE One SNP in exon 12 of the CBLB gene was significantly demonstrated to be associated to T1D in a large Danish T1D family material of 480 families. 15629882 2005
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.250 GeneticVariation disease BEFREE Evaluation of disease association by a multilocus transmission/disequilibrium test (TDT) gave a P value of 0.484 for IAN4L1 and 0.692 for CBLB, suggesting that neither gene influences susceptibility to common alleles of human type 1 diabetes in these populations. 14747305 2004
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.250 GeneticVariation disease BEFREE Seven single-nucleotide polymorphism (SNP) markers spanning the CBLB gene were genotyped in multiplex T1D families and assessed for disease association by transmission disequilibrium testing. 14961073 2004
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.250 SusceptibilityMutation disease RGD Cblb is a major susceptibility gene for rat type 1 diabetes mellitus. 12118252 2002
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.250 Biomarker disease RGD Cblb is a major susceptibility gene for rat type 1 diabetes mellitus. 12118252 2002
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.100 GeneticVariation phenotype GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.090 Biomarker group BEFREE The interaction between UBASH3A and CBL-B may synergistically inhibit T cell function and affect risk for type 1 diabetes, as both genes have been shown to be associated with this autoimmune disease. 31659016 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.090 Biomarker group BEFREE The CBLB protein (CBL-B) is a key regulator of peripheral immune tolerance by limiting T cell activation and expansion and hence T cell-mediated autoimmunity through its ubiquitin E3-ligase activity. 25261476 2014
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.090 Biomarker group BEFREE Understanding the signaling pathways regulated by Cbl-b in innate and adaptive immune cells is therefore essential for efficient manipulation of Cbl-b in emerging immunotherapies for human disorders such as autoimmune diseases, allergic inflammation, infections, and cancer. 24875217 2014