SMN1, survival of motor neuron 1, telomeric, 6606

N. diseases: 317; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 AlteredExpression disease BEFREE Retrospectively, immunohistochemistry was performed to study stromal protein expression of both CD34 and SMA in 304 NSCLC patients with pTNM stage I-III disease. 31760702 2020
Idiopathic Membranous Glomerulonephritis
0.010 GeneticVariation disease BEFREE <b>Conclusion</b>: This study of two cohorts from different regions of China indicate that specific <i>PLA2R1</i> polymorphisms are associated with IMN and SMN. 31532353 2020
Idiopathic pulmonary arterial hypertension
0.010 Biomarker disease BEFREE The right ventricular systolic pressure (RVSP), right ventricle hypertrophy index (RVHI), percentage of medial wall thickness (%MT), α-SMA, Ki-67 and TUNEL staining were performed to evaluate the development of PAH. 31837334 2020
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.010 Biomarker group BEFREE OBJECTIVESupplementary motor area (SMA) syndrome is defined as temporary paralysis after the resection of brain tumor localized in the SMA. 30738403 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 AlteredExpression disease BEFREE Here, we investigated the effect of TP53 on α‑SMA expression in breast cancer cells. 30535478 2019
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.010 AlteredExpression disease BEFREE The associations were assessed between α‑SMA expression and the clinical features of CRS. 31322276 2019
CUI: C0014009
Disease: Empyema
Empyema
0.010 AlteredExpression disease BEFREE Myocardin, α-SMA, calponin, and smooth muscle myosin were notably upregulated in the thickened pleura of carbon black/bleomycin and empyema mouse models of fibrosing pleural injury. 30605348 2019
Fenestration (morphologic abnormality)
0.010 Biomarker disease BEFREE For the SMA (N.=341) fenestrations were used in 169 (49.6%) and branches in 172 (50.4%). 29943962 2019
CUI: C0016065
Disease: Polyostotic fibrous dysplasia
Polyostotic fibrous dysplasia
0.010 AlteredExpression disease BEFREE Treatment with PFD significantly reduced ConA-induced expression of type II and IV collagens, α-SMA mRNA expression, and HP content and decreased inflammatory cells infiltration in hepatic tissues. 31639402 2019
CUI: C0017411
Disease: Female Genital Diseases
Female Genital Diseases
0.010 AlteredExpression group BEFREE Our results showed that ADSCs from omentum of ovarian cancer patients,no matter whether metastasis or not, expressed higher levels of α-SMA than ADSCs from patients with benign gynecologic disease. 31046126 2019
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis
0.010 Biomarker disease BEFREE Subgroup analysis by treatment strategies, assay methods, ethnicity, gender, renal function, the approach of ruling out SMN, and the ratio of patients with nephrotic-range proteinuria at baseline showed no significant association between these factors with the prognostic value of sPLA2R-ab for PMN patients. 31533641 2019
CUI: C0019159
Disease: Hepatitis A
Hepatitis A
0.010 Biomarker disease BEFREE Furthermore, TLR4 overexpression induced by DEN was decreased by Baishouwu extract, leading to the markedly down-regulated levels of MyD88, TRAF6, NF-κB p65, TGF-β1 and α-SMA in hepatitis, cirrhosis, and hepatocarcinoma. 31068809 2019
CUI: C0022346
Disease: Icterus
Icterus
0.010 AlteredExpression phenotype BEFREE Lower area percent expression of α-SMA correlated with increased probability of jaundice clearance after KPE (P < 0.001). 30381493 2019
CUI: C0022548
Disease: Keloid
Keloid
0.010 Biomarker disease BEFREE The reconstructed keloid showed increased contraction, dermal thickness (trend) and α-SMA+ staining, but co-culture with monocytes did not further enhance the keloid phenotype. 31187196 2019
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.010 Biomarker disease BEFREE Histopathology sections from the nail matrix biopsy specimen showed a dermal proliferation of bland appearing spindle shaped cells with elongated, blunt ended nuclei (SMA and caldesmon positive), arranged in fascicles, which is typical of leiomyomas. 31141855 2019
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.010 Biomarker disease BEFREE The results of our study revealed that during the first week, there were significant elevations of fibrin, tissue factor expressions, and prothrombin time (PT) coupled with neutropenia without significant changes in liver fibrosis markers such as TGF-β, α-SMA and collagen deposition. 31158377 2019
CUI: C0025202
Disease: melanoma
melanoma
0.010 AlteredExpression disease BEFREE Herein, by scrutinizing the expression of α-SMA and PD-L1 in melanoma and CRC tissues, we found that CAFs was positive correlated with PD-L1 expression. 30873585 2019
CUI: C0027947
Disease: Neutropenia
Neutropenia
0.010 Biomarker disease BEFREE The results of our study revealed that during the first week, there were significant elevations of fibrin, tissue factor expressions, and prothrombin time (PT) coupled with neutropenia without significant changes in liver fibrosis markers such as TGF-β, α-SMA and collagen deposition. 31158377 2019
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.010 Biomarker disease BEFREE Due to the clinical features of SMA, the application of the ASO by lumbar puncture can be challenging in symptomatic patients considering the frequently observed scoliosis, previous spine fusion surgeries, joint contractures, and respiratory insufficiency. 30460449 2019
CUI: C0149516
Disease: Chronic sinusitis
Chronic sinusitis
0.010 Biomarker disease BEFREE Epithelial‑mesenchymal transition in chronic rhinosinusitis (CRS) and the prognostic value of α‑SMA in postoperative outcomes of patients with CRS. 31322276 2019
CUI: C0152256
Disease: Disuse osteoporosis
Disuse osteoporosis
0.010 Biomarker disease BEFREE Retrospective chart review of IV BP for treatment of disuse osteoporosis and low BMD in children with SMA at a tertiary pediatric center from 2010 to 2018 RESULTS: Eight patients (50% female; 75% SMA type 1; median age at first infusion 6.7 years) receiving a total of 39 infusions (54% pamidronate, 46% zoledronic acid) were included in this report. 31788718 2019
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
0.010 GeneticVariation disease BEFREE Adult forms of SMA are associated with selective grey matter degeneration in the spinal cord with preserved white matter integrity. 30522974 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: C0278704
Disease: Malignant Childhood Neoplasm
Malignant Childhood Neoplasm
0.010 Biomarker disease BEFREE The previously observed inverse relationship between LTL and thyroid SMN risk in survivors of childhood cancer may be related to alternative molecular mechanisms and warrants further study. 30377209 2019
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
0.010 AlteredExpression disease BEFREE Prolonged administration of RSV significantly suppressed high-grade biliary neoplasia (P = 0.008), attenuated upregulation of hyperplasia and fibrogenesis-related genes (Tgfb, α-SMA and CK7), and decreased the elevated oxidative DNA damage. 31628937 2019