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: C1848204
Disease: DEAFNESS, X-LINKED 4 (disorder)
DEAFNESS, X-LINKED 4 (disorder) 		0.610 GeneticVariation disease CLINVAR Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. 21549342 2011
CUI: C1848204
Disease: DEAFNESS, X-LINKED 4 (disorder)
DEAFNESS, X-LINKED 4 (disorder) 		0.610 Biomarker disease CTD_human
CUI: C1848204
Disease: DEAFNESS, X-LINKED 4 (disorder)
DEAFNESS, X-LINKED 4 (disorder) 		0.610 Biomarker disease BEFREE Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family. 21893181 2011
CUI: C1848204
Disease: DEAFNESS, X-LINKED 4 (disorder)
DEAFNESS, X-LINKED 4 (disorder) 		0.610 GeneticVariation disease CLINVAR Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. 21549336 2011
CUI: C1848204
Disease: DEAFNESS, X-LINKED 4 (disorder)
DEAFNESS, X-LINKED 4 (disorder) 		0.610 Biomarker disease GENOMICS_ENGLAND A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22. 8872482 1996
CUI: C1848204
Disease: DEAFNESS, X-LINKED 4 (disorder)
DEAFNESS, X-LINKED 4 (disorder) 		0.610 CausalMutation disease CLINVAR
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. 21549336 2011
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. 21549342 2011
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease BEFREE Only three X-linked genes (POU class 3 homeobox 4 (POU3F4), phosphoribosyl pyrophosphate synthetase 1 (PRPS1), and small muscle protein X-linked (SMPX)) are known to be involved in nonsyndromic hearing loss. 30874365 2020
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family. 21893181 2011
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect. 22911656 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family. 28542515 2017
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN Identification of genes concordantly expressed with Atoh1 during inner ear development. 21519551 2011
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 GeneticVariation disease BEFREE A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family. 28542515 2017
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 GeneticVariation disease BEFREE A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family. 29559740 2018
CUI: C0018780
Disease: Hearing Loss, High-Frequency
Hearing Loss, High-Frequency 		0.100 Biomarker disease HPO
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		0.100 CausalMutation disease CLINVAR
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.030 Biomarker disease BEFREE We also show that the histone demethylase KDM6B is a direct CSL-negative target, with inverse roles of CSL in HKC and SCC proliferative capacity, tumorigenesis, and tumor-associated inflammatory reaction. 29757189 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.030 AlteredExpression disease BEFREE Like CSL, PDCD4 is down-regulated in stromal fibroblasts of premalignant skin actinic keratosis (AKs) lesions and squamous cell carcinoma (SCC). 27542230 2016
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.030 Biomarker disease 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 Biomarker disease BEFREE Loss of CSL Unlocks a Hypoxic Response and Enhanced Tumor Growth Potential in Breast Cancer Cells. 27066863 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 AlteredExpression disease BEFREE Down regulation of CSL activity inhibits cell proliferation in prostate and breast cancer cells. 21520243 2011
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.020 GeneticVariation disease BEFREE To characterize the population pharmacokinetics of C1-INH (SC) (HAEGARDA<sup>®</sup> ; CSL Behring) in healthy volunteers and HAE patients, and assess the variability and influence of covariates on pharmacokinetics. 29998524 2018
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.020 Biomarker disease BEFREE Berinert® (CSL Behring) is a plasma-derived human C1 inhibitor (C1-INH) concentrate, approved for the treatment of HAE with C1-INH deficiency (C1-INH-HAE), however, it is often used off-label in Europe to treat HAE with normal C1-INH. 28251901 2017