DYM, dymeclin, 54808

N. diseases: 155; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000729
Disease: Abdominal Cramps
Abdominal Cramps
0.010 Biomarker phenotype BEFREE The main action consists in the blockade of Ca2+ entry through L-type Ca2+ channels and interference with intracytoplasmatic Ca2+ mobilization necessary for SMC contraction, thus preventing excessive bowel contractions and abdominal cramps. 29732965 2018
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.010 Biomarker phenotype BEFREE Further, OB blocks the T-type Ca2+ channels and interferes with the muscarinic responses; it interacts, directly or indirectly, with the tachykinin receptors on SMC and on primary afferent neurons whose combined effects may result in the reduction of motility and abdominal pain. 29732965 2018
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology
0.100 Biomarker phenotype HPO
CUI: C4021746
Disease: Abnormality of the ilium
Abnormality of the ilium
0.100 Biomarker disease HPO
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis
0.100 Biomarker disease HPO
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist
0.100 Biomarker disease HPO
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly
0.100 Biomarker disease HPO
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 Biomarker disease BEFREE Our machine learning models trained on the morphometric and connectome estimates (number of features = 34,646) showed optimal classification accuracy (AD/SMC: 97% accuracy, MCI/SMC: 83% accuracy; AD/MCI: 97% accuracy) in NHIS-IH cohort, outperforming a benchmark model (FLAIR-based white matter hyperintensity volumes). 31150957 2019
CUI: C0002793
Disease: Anaplasia
Anaplasia
0.020 GeneticVariation disease BEFREE OSA-induced cardiovascular fibrosis was associated with SMC dedifferentiation, and PHD3 overexpression may benefit its prevention by reversing the dedifferentiation. 31346526 2019
CUI: C0002793
Disease: Anaplasia
Anaplasia
0.020 Biomarker disease BEFREE HERP1 expression was associated with the SMC proliferation and dedifferentiation in vitro and in vivo. 16151017 2005
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
0.010 GeneticVariation disease BEFREE Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology. 12757356 2003
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
0.010 Biomarker disease BEFREE This study suggests that IgE actives the lincRNAp21-p21 pathway to induce SMC senescence, which contributes to the formation of AAA, and lincRNA-p21 is a potential therapeutic target for AAA aggravated by asthma. 31440377 2019
CUI: C0340613
Disease: Arterial aneurysm
Arterial aneurysm
0.010 AlteredExpression disease BEFREE These results demonstrate that mast cells participate in AAA pathogenesis in mice by releasing proinflammatory cytokines IL-6 and IFN-gamma, which may induce aortic SMC apoptosis, matrix-degrading protease expression, and vascular wall remodeling, important hallmarks of arterial aneurysms. 17932568 2007
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease
0.010 GeneticVariation group BEFREE Human MYH11 gene mutations provide the first example of a direct change in a specific SMC protein leading to an inherited arterial disease. 16444274 2006
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.030 AlteredExpression disease BEFREE In this study, we analyzed expression patterns of genes involved in carotid atherosclerosis development (e.g., transcription factors of regulation of SMC genes) of VSMCs located inside or outside the plaque lesion that may give clues about changes in phenotypic plasticity during atherosclerosis. 29562638 2018
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.030 AlteredExpression disease BEFREE Strikingly, SMC-targeted GLUT1 overexpression fails to accelerate atherosclerosis in mice that do not exhibit the metabolic syndrome phenotype or monocytosis. 29875324 2018
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.030 Biomarker disease BEFREE In addition to typical smooth muscle cell (SMC) markers, these pathways also encompassed cytoskeleton-related genes previously not associated with atherosclerosis. 27470516 2016
CUI: C0004096
Disease: Asthma
Asthma
0.020 Biomarker disease BEFREE This study suggests that IgE actives the lincRNAp21-p21 pathway to induce SMC senescence, which contributes to the formation of AAA, and lincRNA-p21 is a potential therapeutic target for AAA aggravated by asthma. 31440377 2019
CUI: C0004096
Disease: Asthma
Asthma
0.020 Biomarker disease BEFREE Paracrine signaling from lung epithelium to the surrounding mesenchyme is important for lung SMC development and function and is a contributing factor in an array of pulmonary diseases such as bronchopulmonary dysplasia, pulmonary hypertension, and asthma. 19690384 2009
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.030 AlteredExpression disease BEFREE Strikingly, SMC-targeted GLUT1 overexpression fails to accelerate atherosclerosis in mice that do not exhibit the metabolic syndrome phenotype or monocytosis. 29875324 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.030 AlteredExpression disease BEFREE In this study, we analyzed expression patterns of genes involved in carotid atherosclerosis development (e.g., transcription factors of regulation of SMC genes) of VSMCs located inside or outside the plaque lesion that may give clues about changes in phenotypic plasticity during atherosclerosis. 29562638 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.030 Biomarker disease BEFREE In addition to typical smooth muscle cell (SMC) markers, these pathways also encompassed cytoskeleton-related genes previously not associated with atherosclerosis. 27470516 2016
CUI: C4703473
Disease: Atherosclerotic lesion
Atherosclerotic lesion
0.010 Biomarker disease BEFREE SMC-specific deletion of Noxa1 in Apoe<sup>-/-</sup> mice (Noxa1<sup>SMC-/-</sup>/Apoe<sup>-/-</sup>) similarly decreased vascular ROS levels and atherosclerotic lesion size. 30576919 2019
CUI: C0410653
Disease: Atlantoaxial instability
Atlantoaxial instability
0.100 Biomarker disease HPO
Attention deficit hyperactivity disorder
0.100 Biomarker disease HPO