RPS4X, ribosomal protein S4 X-linked, 6191

N. diseases: 28; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004134
Disease: Ataxia
Ataxia 		0.010 GeneticVariation phenotype BEFREE The term <i>spinocerebellar ataxia</i> encompasses a heterogeneous group of neurodegenerative disorders due to pathogenic variants in more than 100 genes, underlying 2 major groups of ataxia: autosomal dominant cerebellar ataxias (ADCA, also known as spinocerebellar ataxias [SCAs]) due to heterozygous variants or polyglutamine triplet expansions leading to adult-onset ataxia, and autosomal recessive spinocerebellar ataxias (ARCAs, also known as SCARs) due to biallelic variants, usually resulting in more severe and earlier-onset cerebellar ataxia. 31617442 2020
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 GeneticVariation phenotype BEFREE The term <i>spinocerebellar ataxia</i> encompasses a heterogeneous group of neurodegenerative disorders due to pathogenic variants in more than 100 genes, underlying 2 major groups of ataxia: autosomal dominant cerebellar ataxias (ADCA, also known as spinocerebellar ataxias [SCAs]) due to heterozygous variants or polyglutamine triplet expansions leading to adult-onset ataxia, and autosomal recessive spinocerebellar ataxias (ARCAs, also known as SCARs) due to biallelic variants, usually resulting in more severe and earlier-onset cerebellar ataxia. 31617442 2020
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		0.010 GeneticVariation disease BEFREE The term <i>spinocerebellar ataxia</i> encompasses a heterogeneous group of neurodegenerative disorders due to pathogenic variants in more than 100 genes, underlying 2 major groups of ataxia: autosomal dominant cerebellar ataxias (ADCA, also known as spinocerebellar ataxias [SCAs]) due to heterozygous variants or polyglutamine triplet expansions leading to adult-onset ataxia, and autosomal recessive spinocerebellar ataxias (ARCAs, also known as SCARs) due to biallelic variants, usually resulting in more severe and earlier-onset cerebellar ataxia. 31617442 2020
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 GeneticVariation phenotype BEFREE The PHKG2 and RNF40 genes are either overlapping or close to the sequences of SCAR marker BC13-4, while SCAR marker BC10-1 is in the intron and overlap the DPEP1 gene, suggesting that alterations in the expression of these genes could contribute to cancer progression. 28410206 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 GeneticVariation group BEFREE The term <i>spinocerebellar ataxia</i> encompasses a heterogeneous group of neurodegenerative disorders due to pathogenic variants in more than 100 genes, underlying 2 major groups of ataxia: autosomal dominant cerebellar ataxias (ADCA, also known as spinocerebellar ataxias [SCAs]) due to heterozygous variants or polyglutamine triplet expansions leading to adult-onset ataxia, and autosomal recessive spinocerebellar ataxias (ARCAs, also known as SCARs) due to biallelic variants, usually resulting in more severe and earlier-onset cerebellar ataxia. 31617442 2020
CUI: C1265713
Disease: Trephine hole
Trephine hole 		0.010 GeneticVariation disease BEFREE COveRs to impRove AesthetiC ouTcome after Surgery for Chronic subdural haemAtoma by buRr hole trepanation (CORRECT-SCAR): protocol of a Swiss single-blinded, randomised controlled trial. 31811007 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 Biomarker disease BEFREE These results suggest that the RPS4X/YB-1 complex is a significant potential target to counteract cisplatin resistance in breast cancer. 21466612 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 Biomarker disease CTD_human These results suggest that the RPS4X/YB-1 complex is a significant potential target to counteract cisplatin resistance in breast cancer. 21466612 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.320 Biomarker disease BEFREE These results suggest that the RPS4X/YB-1 complex is a significant potential target to counteract cisplatin resistance in breast cancer. 21466612 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.320 Biomarker disease CTD_human These results suggest that the RPS4X/YB-1 complex is a significant potential target to counteract cisplatin resistance in breast cancer. 21466612 2011
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		0.300 Biomarker disease CTD_human An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells. 21466612 2011
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.300 Biomarker group CTD_human An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells. 21466612 2011
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		0.300 Biomarker disease CTD_human An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells. 21466612 2011
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.050 Biomarker disease BEFREE There may be another gene(s) that contributes to abnormal phenotypes of monosomy X. Molecular evolutionary analysis shows that the Y-linked and RPS4X-related homologs diverged prior to the radiation of placental mammals and evolved independently. 8808278 1996
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.050 Biomarker disease BEFREE These findings are consistent with the hypothesis that RPS4 deficiency has a role in Turner syndrome, a complex human phenotype associated with monosomy X. 8358435 1993
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.050 Biomarker disease BEFREE Two genes with these properties are ZFX and RPS4X, both of which have been proposed to play a role in Turner's syndrome. 2034290 1991
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.050 Biomarker disease BEFREE Based on our results, we conclude that haploinsufficiency of RPS4X is not the cause of UTS. 8557258 1996
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.050 Biomarker disease BEFREE We therefore assume that RPS4X is not the most prominent candidate gene for Turner syndrome. 1587534 1992
CUI: C0242526
Disease: Gonadal Dysgenesis, 45,X
Gonadal Dysgenesis, 45,X 		0.020 Biomarker disease BEFREE These findings are consistent with the hypothesis that RPS4 deficiency has a role in Turner syndrome, a complex human phenotype associated with monosomy X. 8358435 1993
CUI: C0242526
Disease: Gonadal Dysgenesis, 45,X
Gonadal Dysgenesis, 45,X 		0.020 Biomarker disease BEFREE There may be another gene(s) that contributes to abnormal phenotypes of monosomy X. Molecular evolutionary analysis shows that the Y-linked and RPS4X-related homologs diverged prior to the radiation of placental mammals and evolved independently. 8808278 1996
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.010 Biomarker disease BEFREE In this work, we developed a series of activatable photoacoustic (PA) probes with low molecular weights (less than 438 Da), RPS1-RPS4, which can specifically chelate with Cu<sup>2+</sup> to form radicals with turn-on PA signals in the near-infrared (NIR) region. 31309679 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 Biomarker disease BEFREE Anti-CCG-2, -4 and -7 antibodies were detected in 25·5, 33·2 and 37·0% patients with RA, respectively, and these antibodies were very specific for RA (specificity, 98·1-99·7%). 23480184 2013
CUI: C0010414
Disease: Infection by Cryptococcus neoformans
Infection by Cryptococcus neoformans 		0.010 Biomarker disease BEFREE In contrast, the 1281-1283(230) SCAR marker and the M antigen probe also amplified DNA from Aspergillus niger and Cryptococcus neoformans, respectively. 22189121 2012
CUI: C0019655
Disease: Histoplasmosis
Histoplasmosis 		0.010 Biomarker disease BEFREE To evaluate the relevance of the SCAR markers for the diagnosis of histoplasmosis, another molecular marker (M antigen probe) was used for comparison. 22189121 2012
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 Biomarker disease BEFREE These results included known markers of MS such as the myelin basic protein (MBP) and glutathione S-transferase (GST) M1, nerve growth factors, such as nerve injury-induced protein 1 (NINJ1), X-ray and excision DNA repair factors (XRCC9 and ERCC5) and X-linked genes such as the ribosomal protein, RPS4X. 14625084 2003