DES, desmin, 1674

N. diseases: 330; N. variants: 63
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002991
Disease: Cutaneous Fibrous Histiocytoma
Cutaneous Fibrous Histiocytoma
0.010 Biomarker disease BEFREE Positive smooth muscle actin and factor XIIIa staining in conjunction with negative staining for CD34 and desmin in the current spindled tumor cells are findings consistent with those of cutaneous dermatofibromas. 30893190 2020
CUI: C0015310
Disease: Exotropia
Exotropia
0.010 AlteredExpression disease BEFREE Desmin, which is downregulated in normal EOMs, had high expression in MR muscles of patients with XT. 31630292 2020
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy
0.010 AlteredExpression disease BEFREE Western blotting revealed that creatine kinase M-type, carbonic anhydrase III (muscle specific) and desmin were significantly elevated in dysferlinopathy muscle. 31439488 2020
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 GeneticVariation group BEFREE Baseline characteristics and 3-year clinical outcomes were stratified according to DM status (noninsulin-dependent and insulin-dependent) and DES generation. 31288561 2019
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes
0.010 Biomarker disease BEFREE Desmin and dystrophin abnormalities in upper airway muscles of snorers and patients with sleep apnea. 30764835 2019
CUI: C0206645
Disease: Desmoplastic fibroma
Desmoplastic fibroma
0.010 Biomarker disease BEFREE 1/2 of the MS cases were positive for desmin; 6/10 of the DF cases were positive for β-catenin, and 2 of the MF cases were positive for ALK-1. 30168888 2019
CUI: C0206658
Disease: Smooth Muscle Tumor
Smooth Muscle Tumor
0.010 Biomarker disease BEFREE Desmin and h-Caldesmon were positive in 90% and 57% of PEComas, and 91% and 82% of SMTs. 31851063 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 AlteredExpression disease BEFREE A total of 67.5% and 55.0% of cases positively expressed ACTA2 and DES in pancreatic carcinoma, respectively. 30466735 2019
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
0.010 Biomarker disease BEFREE Immunohistochemical staining demonstrated cells labeled with VIM (+), CD68PGM1 (+), CD34 (-), Actin (-), PCK (-), EMA (-), Desmin (-), SMA (-), S-100 (-), P63 (-), ALK-1 (-), beta-catenia (+), and KI67 (+). 31169683 2019
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
0.010 AlteredExpression disease BEFREE Diagnostic value of BRCA1-associated protein-1, glucose transporter-1 and desmin expression in the discrimination between reactive mesothelial proliferation and malignant mesothelioma in tissues and effusions. 31165505 2019
CUI: C0521720
Disease: Corneal fibrosis
Corneal fibrosis
0.010 Biomarker disease BEFREE It has remained as yet unproven whether desmin contributes in any significant manner to corneal fibrosis. 30590024 2019
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
0.010 Biomarker disease BEFREE This study provides substantial support for translation of an adeno-associated virus serotype 9-mediated TAZ gene replacement strategy using a Des promoter for human BTHS patients in the clinic. 30070157 2019
Secondary malignant neoplasm of lymph node
0.010 AlteredExpression disease BEFREE The coexpression of ACTA2 and DES was related to the expression of MMP2, and positively correlated with lymph node metastasis. 30466735 2019
CUI: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse
0.010 Biomarker disease BEFREE The aim of this study was to explore the link between autophagy and collagen metabolism in patients with pelvic organ prolapse (POP) by detecting the expressions of autophagy factors, collagen, desmin, cytokeratin, and vimentin. 28786871 2019
Myofibroma (morphologic abnormality)
0.010 Biomarker disease BEFREE Using a tissue microarray technique (TMA), cases of myofibroma (MF), of nodular fasciitis (NF), of desmoplastic fibroma (DF), and of myofibroblastic sarcoma (MS) from the Universidad Autónoma Metropolitana Xochimilco, and a Private Oral Pathology Service in Mexico City were stained with antibodies against alpha-smooth muscle actin (α-SMA), H-caldesmon, vimentin, desmin, β-catenin, CD34, anaplastic lymphoma protein kinase (ALK-1), and Ki-67. 30168888 2019
CUI: C1275959
Disease: Cellular neurothekeoma
Cellular neurothekeoma
0.010 Biomarker disease BEFREE Cellular neurothekeoma (CNT) is a dermal lesion with still unknown histogenesis, characterized by immunohistochemical staining for NKI/C3, NSE, MiTF, CD10 and CD68, whereas S100 protein, desmin and cytokeratins are negative. 30311258 2019
CUI: C1368237
Disease: Solitary Myofibromatosis
Solitary Myofibromatosis
0.010 Biomarker disease BEFREE Using a tissue microarray technique (TMA), cases of myofibroma (MF), of nodular fasciitis (NF), of desmoplastic fibroma (DF), and of myofibroblastic sarcoma (MS) from the Universidad Autónoma Metropolitana Xochimilco, and a Private Oral Pathology Service in Mexico City were stained with antibodies against alpha-smooth muscle actin (α-SMA), H-caldesmon, vimentin, desmin, β-catenin, CD34, anaplastic lymphoma protein kinase (ALK-1), and Ki-67. 30168888 2019
CUI: C1839832
Disease: Noncompaction cardiomyopathy
Noncompaction cardiomyopathy
0.010 GeneticVariation disease BEFREE Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect. 30908796 2019
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3
0.010 Biomarker disease BEFREE All 3 tumors were immunohistochemically positive for epithelial membrane antigen and desmin. 31305268 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 AlteredExpression disease BEFREE To study this phenomenon further, human neuronal-glial (HNG) cells in primary culture were incubated with LPS, and DNA arrays, Northern, Western, and ELISA analyses were used to quantify transcription patterns for the three member neuron-specific intermediate filament-gene family NF-H, NF-M, and NF-L. As in sporadic AD limbic-regions, down-regulated transcription products for the NF-L intermediate filament protein was significant. 30568571 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 GeneticVariation group BEFREE Our findings suggest that variations in the DES gene may be involved in cardiovascular disease. 30096250 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.010 Biomarker disease BEFREE Expression of the intermediate filament protein vimentin has been recently observed in the pancreatic islet β- and α-cells of humans with type 2 diabetes mellitus. 29275072 2018
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.010 AlteredExpression disease BEFREE The experiments <i>in vivo</i> and <i>in vitro</i> both displayed that the mRNA and protein expression of P2X7R, NLRP3, ASC, caspase1 (procaspase-1 mRNA in the gene level and active caspase-1 subunit P10 in the protein level), IL-1<i>β</i>, and IL-18 was significantly upregulated and the mRNA and protein expression of podocyte-associated molecules was significantly changed (downregulation of nephrin, podocin, and WT-1 expression and upregulation of desmin expression) indicating podocyte injury in the kidney tissue of DN rats and in the HG-stressed mouse podocytes, respectively. 30534570 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 GeneticVariation group BEFREE Since desmin expression is diminished in vascular smooth muscle cells during reparative processes, we wanted to study whether a common intragenic single nucleotide polymorphism at nucleotide position 828 (rs1058261) of the DES gene associates with hypertension, cerebrovascular complications, and all cardiovascular events in the Tampere adult population cardiovascular risk (TAMRISK) study. 30096250 2018
CUI: C0025063
Disease: Mediastinal Neoplasms
Mediastinal Neoplasms
0.010 Biomarker group BEFREE Thoracoscopic resection of the mediastinal tumor and immunohistological findings, which were positive for smooth muscle actin (SMA), HHF-35, vimentin, and desmin confirmed primary leiomyosarcoma. 29607872 2018