POTEF, POTE ankyrin domain family member F, 728378

N. diseases: 215; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE Very high expression levels ([hTERT x 100: beta-actin] >20) were found only in patients with cancer. 10675236 2000
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE beta-Actin mutations in chemically transformed human cell lines have been associated with tumorigenicity, an association consistent with other evidence suggesting that altered cytoskeletal proteins may have an important role in cancer initiation or progression. 3472224 1987
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE The comparison of the gene expression profiles between two subpopulations of melanoma cells (1C8 and T1C3) derived from the tumor of one patient by cDNA array revealed differences in GAPDH and beta-actin gene levels. 11476540 2001
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE These findings imply that the primary transfectant strains develop subpopulations of cells that are selected to form tumors because of their elevated rate of exogenous mutant beta-actin synthesis. 3614199 1987
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Activation of the GLI oncogene through fusion with the beta-actin gene (ACTB) in a group of distinctive pericytic neoplasms: pericytoma with t(7;12). 15111311 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE The expression of DTD and P450R in patient tumors (n = 29), as ratios to beta-actin levels, varied from 0 to 90% and 0 to 29%, respectively. 11350900 2001
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE beta-Actin mutations in chemically transformed human cell lines have been associated with tumorigenicity, an association consistent with other evidence suggesting that altered cytoskeletal proteins may have an important role in cancer initiation or progression. 3472224 1987
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation group BEFREE Very high expression levels ([hTERT x 100: beta-actin] >20) were found only in patients with cancer. 10675236 2000
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.090 GeneticVariation disease BEFREE We found significantly increased DNAse I transcripts in brain of DS and AD both, when normalized versus the house-keeping gene beta actin or total RNA. 10666689 1999
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.090 GeneticVariation disease BEFREE Serotypes 1-10 scAAV vectors that included enhanced green fluorescent (egfp) reporter gene driven by either cytomegalovirus (CMV) or chicken beta-actin (CBA) promoters were analyzed for transduction ability of HB (Huh-6) and HCC (Huh-7 and HepG2) cell lines and primary cultures of normal human hepatocytes. 19586787 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.050 GeneticVariation disease BEFREE To investigate an enzyme/prodrug gene therapy for colorectal cancer, using adenoviral gene transfer of the E. coli CD gene associated with administration of 5-FC, we constructed replication-defective adenovirus vectors expressing the E. coli CD gene or lacZ gene driven by a CAG promoter (composed of a cytomegalovirus immediate early enhancer and a chicken beta-actin promotor). 10840940 2000
CUI: C0021400
Disease: Influenza
Influenza
0.030 GeneticVariation disease BEFREE Using TRX transgenic (Tg) mice in which human TRX is overexpressed systemically under the control of beta-actin promoter, the effects of influenza virus infection were examined in TRX Tg mice and wild type C57BL/6 mice. 12008049 2002
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.020 GeneticVariation disease BEFREE The mRNA expression of IL-10 was found to be 3.63 folds higher (housekeeping gene, β-actin) and 2.42 folds higher (housekeeping gene, 18S rRNA) in RA patients as compared to controls. 29621504 2018
CUI: C0013421
Disease: Dystonia
Dystonia
0.020 GeneticVariation phenotype BEFREE A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646 2006
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.020 GeneticVariation disease BEFREE In the present study we developed a single-step triplex real-time polymerase chain reaction (PCR) assay for detection of Hepatitis B Virus (HBV) and Hepatitis C Virus (HCV) with sample quality check, by using β-actin as housekeeping gene. 26914508 2016
CUI: C0205204
Disease: Scab
Scab
0.020 GeneticVariation disease BEFREE 83% of subjects had at least one valid crust swab (detectable VZV or β-actin DNA), 78% had at least one valid crust, 78% had at least one valid vesicle swab, and 32% had at least one valid papule swab. 23275023 2013
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
0.020 GeneticVariation group BEFREE A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646 2006
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME
0.020 GeneticVariation disease BEFREE The p.Arg183Trp mutation in the beta-actin gene is associated with the clinical presentation of dystonia-deafness syndrome, even with only minimal or no developmental abnormalities of Baraitser-Winter syndrome. 27862284 2017
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME
0.020 GeneticVariation disease BEFREE We hypothesize that the pleiotropic manifestations of the dystonia-deafness syndrome caused by this mutation derive from diverse developmental functions of beta-actin in neural crest migration and proliferation (facial dysmorphogenesis), hair cell stereocilia function (infant-onset deafness), and altered synaptic activity patterns associated with pubertal changes in striatal function (adolescent-onset dystonia). 29788902 2018
Malignant neoplasm of colon and/or rectum
0.020 GeneticVariation disease BEFREE To investigate an enzyme/prodrug gene therapy for colorectal cancer, using adenoviral gene transfer of the E. coli CD gene associated with administration of 5-FC, we constructed replication-defective adenovirus vectors expressing the E. coli CD gene or lacZ gene driven by a CAG promoter (composed of a cytomegalovirus immediate early enhancer and a chicken beta-actin promotor). 10840940 2000
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 GeneticVariation group BEFREE A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646 2006
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
0.010 GeneticVariation group BEFREE Beta-actin (ACTB) loss-of-function mutations result in a pleiotropic developmental disorder of kidney. 31396261 2019
CUI: C0014040
Disease: Encephalitis Lethargica
Encephalitis Lethargica
0.010 GeneticVariation disease BEFREE Using this technique, messenger ribonucleic acid (mRNA) of the beta-actin gene was detected in eight clinical brain samples from the 1916-1920 outbreak of encephalitis lethargica, showing preservation of particular mRNAs. 12695912 2003
CUI: C0032300
Disease: Lobar Pneumonia
Lobar Pneumonia
0.010 GeneticVariation disease BEFREE The results of a control PCR for the human gene beta-actin suggested that false-negative psaA PCR results are attributable to problems of specimen collection, processing, or DNA extraction in 30% of cases (14 of 47). psaA PCR analysis is a sensitive tool for diagnosis of pneumococcal pneumonia in adults. 12791880 2003
CUI: C0155862
Disease: Streptococcal pneumonia
Streptococcal pneumonia
0.010 GeneticVariation disease BEFREE The results of a control PCR for the human gene beta-actin suggested that false-negative psaA PCR results are attributable to problems of specimen collection, processing, or DNA extraction in 30% of cases (14 of 47). psaA PCR analysis is a sensitive tool for diagnosis of pneumococcal pneumonia in adults. 12791880 2003