Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.020 GeneticVariation disease BEFREE We measured by real-time PCR the expression of genes involved in lipid metabolism [acetyl-Coenzyme A carboxylase alpha, apolipoprotein B (APOB), diacylglycerol O-acyltransferase 2, fatty acid-binding protein 1, fatty acid synthase, microsomal triglyceride transfer protein (MTTP), peroxisome proliferator-activated receptor alpha (PPARA), peroxisome proliferator-activated receptor gamma (PPARG), protein kinase AMP-activated alpha 1 catalytic subunit (PRKAA1) and sterol regulatory element-binding transcription factor 1 (SREBF1)] in liver biopsies from patients infected with HCV genotype-1 (HCVGT1), HCVGT3 and Hepatitis B (HBV) using β-glucuronidase (GUSB) and splicing factor arginine/serine-rich 4 (SFRS4) as housekeeping genes. 20196803 2011
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.020 AlteredExpression disease BEFREE Our results indicate that liver disease affects the expression of common HKGs and that β-glucuronidase and splicing factor arginine/serine-rich 4 are the most stable HKGs from this group for studies of gene expression in HCV-infected human liver. 21073651 2011
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 AlteredExpression phenotype BEFREE Specifically, the upregulation of SRSF4, SRSF6, or TRA2β disrupts acinar morphogenesis and promotes cell proliferation and invasion in MCF-10A cells. 31775037 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE SRp55/SRp75: p<0.001) were observed in tumor samples with alternative RON splicing. 25997828 2015
CUI: C1847540
Disease: Azoospermia, Nonobstructive
Azoospermia, Nonobstructive
0.010 GeneticVariation disease BEFREE Rs17431717 near SFRS9 and rs12046213 near SFRS4 were significantly associated with a decreased risk of NOA, whereas rs10849753 near SFRS9 and rs6103330 in SFRS6 were associated with an increased risk of NOA. 24661730 2014
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.010 Biomarker disease BEFREE We investigated the variability of commonly used HGKs (18S, β-actin, glyceraldehyde-3-phosphate [GAPDH], and arginine/serine-rich splicing factor [SFRS4]) in the liver of patients with ALD. 21913943 2012
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
0.010 GeneticVariation disease BEFREE We measured by real-time PCR the expression of genes involved in lipid metabolism [acetyl-Coenzyme A carboxylase alpha, apolipoprotein B (APOB), diacylglycerol O-acyltransferase 2, fatty acid-binding protein 1, fatty acid synthase, microsomal triglyceride transfer protein (MTTP), peroxisome proliferator-activated receptor alpha (PPARA), peroxisome proliferator-activated receptor gamma (PPARG), protein kinase AMP-activated alpha 1 catalytic subunit (PRKAA1) and sterol regulatory element-binding transcription factor 1 (SREBF1)] in liver biopsies from patients infected with HCV genotype-1 (HCVGT1), HCVGT3 and Hepatitis B (HBV) using β-glucuronidase (GUSB) and splicing factor arginine/serine-rich 4 (SFRS4) as housekeeping genes. 20196803 2011
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.010 AlteredExpression group BEFREE Our results indicate that liver disease affects the expression of common HKGs and that β-glucuronidase and splicing factor arginine/serine-rich 4 are the most stable HKGs from this group for studies of gene expression in HCV-infected human liver. 21073651 2011
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.010 Biomarker disease BEFREE An SRp75/hnRNPG complex interacting with hnRNPE2 regulates the 5' splice site of tau exon 10, whose misregulation causes frontotemporal dementia. 21723381 2011
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.010 Biomarker disease BEFREE Using co-transfections, co-immunoprecipitations and RNAi we discovered that SRp75 binds to the proximal downstream intron of tau exon 10 at the FTDP-17 hotspot region; and that hnRNPG and hnRNPE2 interact with SRp75. 21723381 2011