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: C0339789
Disease: Congenital deafness
Congenital deafness 		0.020 GeneticVariation disease BEFREE Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness. 31478598 2019
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.020 GeneticVariation disease BEFREE Subpopulation screening of the coding exons and flanking introns of SMPX was further performed for 338 Chinese patients with nonsydromic HL by Sanger sequencing, and another two potential causative substitutions (c.238C>A and c.55A>G) in SMPX were identified in additional sporadic cases of congenital deafness. 28542515 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 Biomarker disease BEFREE Loss of CSL Unlocks a Hypoxic Response and Enhanced Tumor Growth Potential in Breast Cancer Cells. 27066863 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 AlteredExpression disease BEFREE Down regulation of CSL activity inhibits cell proliferation in prostate and breast cancer cells. 21520243 2011
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.010 AlteredExpression disease BEFREE This is functionally significant, because both CSL and p62 levels are lower in skin cancer-derived CAFs, in which autophagy is increased. 30231994 2018
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 GeneticVariation disease BEFREE Stereotactic ablative radiotherapy versus standard radiotherapy in stage 1 non-small-cell lung cancer (TROG 09.02 CHISEL): a phase 3, open-label, randomised controlled trial. 30770291 2019
CUI: C0011603
Disease: Dermatitis
Dermatitis 		0.010 Biomarker disease BEFREE This study examines the effects of the dietary supplementation with Lactobacillus acidophilus D2/CSL (CECT 4529) (LA) on productive performances, incidence of foot pad dermatitis and caecum microbioma in broiler chickens. 28472118 2017
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 Biomarker disease BEFREE We tested if the Notch/Deltex pathway, which is distinct from the canonical, CSL-mediated pathway, has a role in GBM. 23451269 2013
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.010 Biomarker disease BEFREE The frameshift mutation predicted to result in the premature truncation of the SMPX protein was co-segregated with the HL phenotype and was absent in 295 normal controls. 28542515 2017
CUI: C0023418
Disease: leukemia
leukemia 		0.010 AlteredExpression disease BEFREE CSL-MAML-dependent Notch1 signaling controls T lineage-specific IL-7R{alpha} gene expression in early human thymopoiesis and leukemia. 19349467 2009
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma 		0.010 Biomarker disease BEFREE Reactivation of Kaposi's sarcoma-associated herpesvirus (KSHV) from latency requires the viral transactivator Rta to contact the host protein Jκ recombination signal-binding protein (RBP-Jκ or CSL). 31308175 2019
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.010 Biomarker disease BEFREE VONCENTO (CSL Behring Gmbh, Marburg, Germany) is a plasma-derived, high concentration, lower volume [relative to HAEMATE P (CSL Behring)], high-purity von Willebrand factor (VWF)/factor VIII (FVIII) concentrate with a VWF/FVIII ratio similar to HAEMATE P. This open-label, multicentre study investigated the pharmacokinetic, haemostatic efficacy, and safety profiles of VONCENTO in study participants at least 12 years of age with von Willebrand disease (VWD) who required treatment of nonsurgical bleeding (NSB) events or underwent surgery or prophylaxis. 27203734 2017
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.010 Biomarker disease BEFREE Here, we find that CSL down-modulation triggers DNA damage, telomere loss and chromosome end fusions that also occur in skin Squamous Cell Carcinoma (SCC)-associated CAFs, in which CSL is decreased. 31467287 2019
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.010 AlteredExpression disease BEFREE We propose that cooperative leukemogenesis occurs in cells that have constitutive N(ic) and altered Ik isoform expression because genes normally repressed by Ik become activated by N(ic)/CSL. 12842084 2003
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		0.010 GeneticVariation disease BEFREE The study population consisted of 33 patients with recent ACS: 20 patients from the ERASE trial (randomized to receive 4 weekly intravenous infusions of CSL-111 40 mg/kg or placebo) and 13 additional patients recruited as controls using the same enrolment criteria. 28060837 2017
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 AlteredExpression disease BEFREE CSL-MAML-dependent Notch1 signaling controls T lineage-specific IL-7R{alpha} gene expression in early human thymopoiesis and leukemia. 19349467 2009
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 Biomarker disease BEFREE We tested if the Notch/Deltex pathway, which is distinct from the canonical, CSL-mediated pathway, has a role in GBM. 23451269 2013
CUI: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome 		0.010 Biomarker disease BEFREE Among 13 early-onset BC, CSL and LFL patients, gene panel sequencing identified a potentially pathogenic variant in CHEK2 that affects a canonical RNA splicing signal. 28608266 2018
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