SMPX, small muscle protein X-linked, 23676

N. diseases: 37; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 Biomarker group BEFREE Thus, CSL inhibition may provide a more effective mechanism to inhibit Notch-pathway dependent cancer cell proliferation as compared to GSI treatment. 21520243 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 AlteredExpression group BEFREE Thus, ATF3 converges with CSL in negative control of CAF activation with epigenetic changes amenable to cancer- and stroma-focused intervention. 28684431 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 Biomarker group BEFREE Taken together, the findings point to a central role of CSL in telomere homeostasis with important implications for genomic instability of cancer stromal cells and beyond. 31467287 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 Biomarker group BEFREE CSL, the key effector of canonical Notch signaling endowed with an intrinsic transcription repressive function, suppresses stromal fibroblast senescence and Cancer Associated Fibroblast (CAF) activation through direct down-modulation of key effector genes. 27542230 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 AlteredExpression group BEFREE Combined CSL and p53 downregulation promotes cancer-associated fibroblast activation. 26302407 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 Biomarker group BEFREE Taken together, the findings point to a central role of CSL in telomere homeostasis with important implications for genomic instability of cancer stromal cells and beyond. 31467287 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 Biomarker group BEFREE CSL, the key effector of canonical Notch signaling endowed with an intrinsic transcription repressive function, suppresses stromal fibroblast senescence and Cancer Associated Fibroblast (CAF) activation through direct down-modulation of key effector genes. 27542230 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 AlteredExpression group BEFREE Combined CSL and p53 downregulation promotes cancer-associated fibroblast activation. 26302407 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 AlteredExpression group BEFREE Thus, ATF3 converges with CSL in negative control of CAF activation with epigenetic changes amenable to cancer- and stroma-focused intervention. 28684431 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 Biomarker group BEFREE Thus, CSL inhibition may provide a more effective mechanism to inhibit Notch-pathway dependent cancer cell proliferation as compared to GSI treatment. 21520243 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE All canonical Notch signaling is transmitted through the DNA-binding protein CSL, and hyperactivated Notch signaling is associated with tumor development; thus it may be anticipated that CSL deficiency should reduce tumor growth. 27066863 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE In vivo, SCC cells with increased CSL levels gave rise to rapidly expanding tumors, while cells with silenced CSL formed smaller and more differentiated tumors with enhanced inflammatory infiltrate. 29757189 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 AlteredExpression group BEFREE We report that, in human dermal fibroblasts (HDFs), conditions inducing autophagy-often found in tumor stroma-down-regulate CSL protein levels but do not affect its mRNA levels. 30231994 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 Biomarker group BEFREE CSL-deficient dermal fibroblasts promote increased tumor cell proliferation through upregulation of c-Jun and c-Fos expression and consequently higher levels of diffusible growth factors, inflammatory cytokines, and matrix-remodeling enzymes. 22682244 2012
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions
0.010 Biomarker group BEFREE CSL is downmodulated in stromal fibroblasts of premalignant skin actinic keratosis lesions and squamous cell carcinomas, whereas p53 expression and function are downmodulated only in the latter, with paracrine FGF signalling as the probable culprit. 26302407 2015
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.010 AlteredExpression group BEFREE Down-regulation of CSL also suppressed the proliferation of ErbB2-negative breast tumor cell lines, indicating that the NOTCH-CSL signaling axis is involved in cell proliferation. 18339869 2008
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.330 Biomarker phenotype GENOMICS_ENGLAND A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22. 8872482 1996
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.330 GeneticVariation phenotype BEFREE Collectively, this study is the first to report the role of SMPX in Chinese population and identify a novel frameshift mutation in SMPX that causes not only nonsyndromic late-onset progressive HL, but also congenital hearing impairment. 28542515 2017
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.330 Biomarker phenotype BEFREE Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family. 21893181 2011
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.330 AlteredExpression phenotype BEFREE SMPX had previously been demonstrated to be specifically expressed in striated muscle and, therefore, seemed an unlikely candidate gene for hearing impairment. 21549342 2011
CUI: C1837352
Disease: Childhood onset
Childhood onset
0.100 Biomarker phenotype HPO
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance
0.100 Biomarker phenotype HPO
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.030 Biomarker phenotype BEFREE Collectively, this suggests that CSL exerts functions beyond serving as the central node in the Notch signaling cascade and reveals a role for CSL in tumorigenesis and regulation of the cellular hypoxic response. 27066863 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.030 Biomarker phenotype BEFREE The Notch/CSL pathway plays an important role in skin homeostasis and carcinogenesis. 27542230 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.030 Biomarker phenotype BEFREE The Notch signaling pathway transcriptional regulator, CSL (also called as CBF1, Suppressor of Hairless or Lag-1 in different species, generally designated as CSL1), is not only associated with cell proliferation and differentiation but also involved in tumorigenesis, inflammation and immune regulation in vertebrates. 30031869 2018