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: 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: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Tumor/normal (T/N) ratio of RET/β actin mRNA levels was not different within gender, stage, smoking status, and pathological subtypes. 23342255 2012
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
0.010 AlteredExpression disease BEFREE SGBS adipocytes showed increased levels of β-actin and HSP60 after 96 h of glucose restriction. 26759119 2016
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.010 Biomarker group BEFREE Immunodeficient mice with bone marrow transplantation from the cytomegalovirus enhancer/chicken β-actin promoter-enhanced green fluorescent protein mice were used for the in vivo experiments. 27742059 2016
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis
0.010 Biomarker disease BEFREE Lupus nephritis (class IV) had higher STAT3/β-actin intensity than SLE without renal involvement. 30767092 2019
CUI: C0021400
Disease: Influenza
Influenza
0.030 Biomarker disease BEFREE Influenza virus infection has adverse effects on the metabolism of two representative RNA polymerase II transcripts in chicken embryo fibroblasts, those coding for beta-actin and for avian leukosis virus (ALV) proteins. 6095046 1984
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Tumor specimens from all 14 patients in the good-prognosis group contained more than 10(3) IFN gamma mRNA copies per 5 x 10(5) beta actin mRNA copies, whereas tumor specimens from only six of the 13 patients in the poor-prognosis group contained this level of IFN gamma mRNA (two-sided P = .006). 9486814 1998
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 AlteredExpression disease BEFREE beta-actin mRNA was analyzed to check the viability of plasma RNA in samples from 45 patients with breast cancer and 25 controls. 11555599 2001
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 AlteredExpression disease BEFREE beta-actin mRNA was analyzed to check the viability of plasma RNA in samples from 45 patients with breast cancer and 25 controls. 11555599 2001
CUI: C0004096
Disease: Asthma
Asthma
0.040 AlteredExpression disease BEFREE beta-Actin and GAPDH used as denominators of gene expression quantitation in asthma research can cause confounding. 12200519 2002
Mucosa-Associated Lymphoid Tissue Lymphoma
0.020 Biomarker disease BEFREE Beta-actin transcript was amplified in 50 cases (94%), including 19 mucosa-associated lymphoid tissue and 31 diffuse large B-cell lymphomas (five with mucosa-associated lymphoid tissue components). 19320643 2009
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.010 Biomarker disease BEFREE Beta-actin transcript was amplified in 50 cases (94%), including 19 mucosa-associated lymphoid tissue and 31 diffuse large B-cell lymphomas (five with mucosa-associated lymphoid tissue components). 19320643 2009
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.020 Biomarker disease BEFREE β-actin tended to decrease with steatosis and to increase with alcoholic hepatitis; β-actin also increased in patients with both alcoholic hepatitis and cirrhosis. 21913943 2012
CUI: C0019187
Disease: Hepatitis, Alcoholic
Hepatitis, Alcoholic
0.010 Biomarker disease BEFREE β-actin tended to decrease with steatosis and to increase with alcoholic hepatitis; β-actin also increased in patients with both alcoholic hepatitis and cirrhosis. 21913943 2012
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.020 Biomarker disease BEFREE β-actin tended to decrease with steatosis and to increase with alcoholic hepatitis; β-actin also increased in patients with both alcoholic hepatitis and cirrhosis. 21913943 2012
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.020 Biomarker disease BEFREE β-actin tended to decrease with steatosis and to increase with alcoholic hepatitis; β-actin also increased in patients with both alcoholic hepatitis and cirrhosis. 21913943 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Beta-actin (ACTB) has traditionally been regarded as an endogenous housekeeping gene and has been widely used as a reference gene/protein in quantifying expression levels in tumors. 23266771 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 AlteredExpression group BEFREE β-actin is a housekeeping gene, frequently used as loading control, but, differentially expresses in cancer. 25232253 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 AlteredExpression group BEFREE β-actin is a housekeeping gene, frequently used as loading control, but, differentially expresses in cancer. 25232253 2014
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 Biomarker group BEFREE β-actin (ACTB) participates in the vascular remodeling and contributes to the cardiovascular diseases. 31327802 2020
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: 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: 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
Qualitative abnormality of granulocyte
0.010 GeneticVariation disease BEFREE A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. 10411937 1999
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