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: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		0.300 Biomarker phenotype 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: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		0.100 Biomarker phenotype HPO
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		0.100 Biomarker phenotype HPO
CUI: C1855925
Disease: Hyperopia, High
Hyperopia, High 		0.100 Biomarker phenotype HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 Biomarker group BEFREE We also found that βII appears in the nuclei of otherwise normal cells adjacent to the tumor. 30621030 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 Biomarker group 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: C0027651
Disease: Neoplasms
Neoplasms 		0.060 Biomarker group BEFREE PKC-β knockout mice are insusceptible to CLL transplantations, underscoring the in vivo significance of the PKC-βII-NF-κB signaling pathway in the tumor microenvironment. 23328482 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 Biomarker group BEFREE In contrast, 2BECFP cells have a reduced tumor-take and tumor volume in vivo even though the overexpression of beta-2 was maintained. 22127840 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 PosttranslationalModification group BEFREE RAR-beta(2) promoter was methylated in 67, 56, and 53% of HNSCC tumors, HNSCC cell lines, and microdissected oral leukoplakia specimens, respectively. 15014026 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 Biomarker group BEFREE Expression of the 185 kd c-erb beta-2 protein product was detected in 3 of 19 (16%) tumours by western blotting and in 5 of 19 (26%) by immunohistochemistry. 1347417 1992
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: 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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.030 GeneticVariation group 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: 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: 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 In the present study, we examined mutations in the NeuroD/BETA2 gene for association with either type 1 or 2 diabetes. 10905500 2000
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.030 GeneticVariation group BEFREE In the present study, we examined mutations in the NeuroD/BETA2 gene for association with either type 1 or 2 diabetes. 10905500 2000