TUBB4B, tubulin beta 4B class IVb, 10383

N. diseases: 46; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693498
Disease: LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS 		0.600 GeneticVariation disease UNIPROT Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. 29198720 2017
CUI: C4693498
Disease: LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS 		0.600 Biomarker disease CLINGEN Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. 29198720 2017
CUI: C4693498
Disease: LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS 		0.600 GeneticVariation disease CLINVAR Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. 29198720 2017
CUI: C0019193
Disease: Hepatitis, Toxic
Hepatitis, Toxic 		0.300 Biomarker disease CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249 2015
CUI: C1262760
Disease: Hepatitis, Drug-Induced
Hepatitis, Drug-Induced 		0.300 Biomarker disease CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249 2015
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury 		0.300 Biomarker disease CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249 2015
CUI: C4277682
Disease: Chemical and Drug Induced Liver Injury
Chemical and Drug Induced Liver Injury 		0.300 Biomarker disease CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249 2015
CUI: C4279912
Disease: Chemically-Induced Liver Toxicity
Chemically-Induced Liver Toxicity 		0.300 Biomarker disease CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249 2015
CUI: C0004096
Disease: Asthma
Asthma 		0.030 AlteredExpression disease BEFREE To investigate a possible genetic basis for reported differences in beta-2 receptor expression in atopic subjects, DNA from 42 atopic children (22 asthmatics and 22 with allergic rhinitis) and 30 non-atopic subjects was Southern blotted and Ban-1 restriction fragment polymorphisms (RFLPS) were studied using a 2.6 kb probe of the human beta-2 receptor gene. 10780896 1993
CUI: C0004096
Disease: Asthma
Asthma 		0.030 GeneticVariation disease BEFREE The extent to which ADRβ2 gene polymorphisms are relevant to asthma management needs further review, both clinically and at the molecular level. 21294785 2011
CUI: C0004096
Disease: Asthma
Asthma 		0.030 Biomarker disease BEFREE To determine whether race and gender affect beta(2)receptor-stimulated bronchodilation, we quantified FEV(1)and plasma concentrations of albuterol at various times following the oral administration of a single 8-mg dose of albuterol in 15 black and 15 white male and female asthmatics. 10873550 2000
CUI: C0011847
Disease: Diabetes
Diabetes 		0.030 GeneticVariation disease BEFREE To identify mutations in the NeuroD/BETA2 gene that may predispose patients to develop diabetes, we studied the gene in 50 Japanese subjects with diabetes (4 with type 1 and 46 with type 2) by the polymerase chain reaction (PCR) followed by single-strand conformation polymorphism and sequencing analyses. 10334323 1999
CUI: C0011847
Disease: Diabetes
Diabetes 		0.030 GeneticVariation disease BEFREE A novel mutation, Ser159Pro in the NeuroD1/BETA2 gene contributes to the development of diabetes in a Chinese potential MODY family. 17440689 2007
CUI: C0011847
Disease: Diabetes
Diabetes 		0.030 GeneticVariation disease BEFREE In the present study, we examined mutations in the NeuroD/BETA2 gene for association with either type 1 or 2 diabetes. 10905500 2000
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.030 GeneticVariation disease BEFREE Because the variant of the NeuroD/BETA2 gene (Ala45Thr) is associated with type 1 but not type 2 diabetes, it may be implicated in the loss of pancreatic beta-cells in type 1 diabetes. 10334323 1999
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.030 GeneticVariation disease BEFREE Mutations in the NeuroD/BETA2 gene were linked to the development of type 2 diabetes (T2DM). 12861411 2003
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.030 GeneticVariation disease BEFREE In conclusion, mutations in the NeuroD/BETA2 gene are not a common cause of late-onset type 2 diabetes among Danes. 10905500 2000
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 AlteredExpression disease BEFREE Hypermethylation of RAR-beta(2) gene was inversely associated with histological and nuclear grade of breast cancer. 18463976 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 AlteredExpression disease BEFREE In view of the conflicting reports in the literature concerning c-erb beta-2 gene amplification or protein over-expression (assessed by western blot or immunohistochemistry) and prognosis of breast cancer, studies in which these parameters are correlated individually with prognosis in the same group of patients are needed. 1347417 1992
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.020 Biomarker disease BEFREE Thus, PKC Beta II is a tumour suppressor in colon cancer and low levels serve as a predictor for poor survival outcome. 26989024 2016
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.020 AlteredExpression disease BEFREE We also concluded that chemotherapy enriched to increase TUBB4B level and/or to stabilize microtubule polymerization might more effectively prevent metastasis in colon cancer development. 31375012 2019
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 Biomarker disease BEFREE Drug-treated clonogenic assays showed that sensitivity to epothilone B was not altered following knockdown of βII-tubulin in both NSCLC cell lines. 21738778 2011
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 AlteredExpression disease BEFREE However, RMM1 and TUBB2 expressions were not correlated with clinical outcome of NSCLC. 24854656 2014
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.020 GeneticVariation disease BEFREE Because the variant of the NeuroD/BETA2 gene (Ala45Thr) is associated with type 1 but not type 2 diabetes, it may be implicated in the loss of pancreatic beta-cells in type 1 diabetes. 10334323 1999
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.020 GeneticVariation disease BEFREE NeuroD/BETA2 gene variability and diabetes: no associations to late-onset type 2 diabetes but an A45 allele may represent a susceptibility marker for type 1 diabetes among Danes. Danish Study Group of Diabetes in Childhood, and the Danish IDDM Epidemiology and Genetics Group. 10905500 2000