Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
0.200 Biomarker disease MGD Osteopotentia regulates osteoblast maturation, bone formation, and skeletal integrity in mice. 20440000 2010
CUI: C2931093
Disease: Osteogenesis imperfecta, type 5
Osteogenesis imperfecta, type 5
0.200 Biomarker disease MGD Osteopotentia regulates osteoblast maturation, bone formation, and skeletal integrity in mice. 20440000 2010
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0406317
Disease: Chronic small plaque psoriasis
Chronic small plaque psoriasis
0.020 GeneticVariation disease BEFREE Tofacitinib was superior to placebo for the treatment of moderate-to-severe plaque psoriasis in the OPT Pivotal 1 and 2, OPT Retreatment studies, but FDA approval was declined for this indication based on issues of clinical efficacy and long-term safety. 30118353 2018
CUI: C0406317
Disease: Chronic small plaque psoriasis
Chronic small plaque psoriasis
0.020 Biomarker disease BEFREE A Phase 3 withdrawal/re-treatment study (NCT01186744; OPT Retreatment) showed tofacitinib re-treatment was effective in patients with chronic plaque psoriasis. 27600367 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 Biomarker group BEFREE In addition, the CL20i4-EF1alpha-hgamma(c)OPT vector has not caused any tumors in transplanted mice. 20457870 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 Biomarker group BEFREE Luciferase assays revealed that the hTERT promoter presented the highest tumor selectivity. hESE1 and SLP1 promoters showed strong epithelial cell selectivity (hESE1, 16/17; SLP1, 15/17), with the OSP1 (11/17) promoter exhibiting lower epithelial selectivity. 12051873 2002
CUI: C0018801
Disease: Heart failure
Heart failure
0.010 GeneticVariation disease BEFREE Optimising pacemaker therapy and medical therapy in pacemaker patients for heart failure: protocol for the OPT-PACE randomised controlled trial. 31320354 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.010 GeneticVariation disease BEFREE Optimising pacemaker therapy and medical therapy in pacemaker patients for heart failure: protocol for the OPT-PACE randomised controlled trial. 31320354 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 Biomarker phenotype BEFREE SUCO might be a potential diagnostic biomarker for HCC patients, which promotes the tumorigenesis and progression of HCC. 31434866 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 Biomarker disease BEFREE SUCO might be a potential diagnostic biomarker for HCC patients, which promotes the tumorigenesis and progression of HCC. 31434866 2019
CUI: C0015967
Disease: Fever
Fever
0.010 GeneticVariation phenotype BEFREE The activities of the ETC complexes were diminished in the SLP1 when exposed to high temperature, but also it was distinguished an alternative oxidase activity. 28181110 2017
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.010 Biomarker disease BEFREE Selected baseline characteristics or early improvement in Psoriasis Area and Severity Index (PASI) in the phase 3 tofacitinib study OPT 1 (NCT01276639) were evaluated as predictors for a clinical response (75% improvement in PASI [PASI75]) at week 16. 27538247 2017
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome
0.010 AlteredExpression disease BEFREE We found in both cells and tumors a marked upregulation in CTFG and a significant reduction of SLP1 expression in the CD24(+)/IGF1R-KD; tumor-suppressor and tumor-promoting genes respectively. 27179633 2016
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 Biomarker disease BEFREE We analyzed global DNA binding of MEIS1 in leukemic cells as well as gene expression alterations in MEIS1-deficent cells and identified synaptotagmin-like 1 (Sytl1, also known as Slp1) as the MEIS1 target gene that cooperates with Hoxa9 in leukemogenesis. 27018596 2016
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
0.010 AlteredExpression disease BEFREE We found in both cells and tumors a marked upregulation in CTFG and a significant reduction of SLP1 expression in the CD24(+)/IGF1R-KD; tumor-suppressor and tumor-promoting genes respectively. 27179633 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 Biomarker group BEFREE Our results indicate that mTLE defects may affect neuronal development, and suggest that neurons have abnormal development due to lack of SUCO, which may be a generalized-onset epilepsy-related gene. 25668491 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.010 Biomarker disease BEFREE Our results indicate that mTLE defects may affect neuronal development, and suggest that neurons have abnormal development due to lack of SUCO, which may be a generalized-onset epilepsy-related gene. 25668491 2015
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe
0.010 GeneticVariation disease BEFREE Exome sequencing identifies SUCO mutations in mesial temporal lobe epilepsy. 25668491 2015
CUI: C1411966
Disease: Clostridium; difficile (disorder)
Clostridium; difficile (disorder)
0.010 GeneticVariation disease BEFREE A new macrocyclic antibiotic, fidaxomicin (OPT-80), causes less alteration to the bowel microbiota of Clostridium difficile-infected patients than does vancomycin. 20724385 2010
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection
0.010 Biomarker disease BEFREE The highest SLP-1 h was measured in the CD4+CD4+CD45RO+ CD25- population (T reg depleted), suggesting a role of Tregs in controlling immune activation during HIV-1 infection. 19303058 2009
CUI: C0036323
Disease: Schistosomiasis
Schistosomiasis
0.010 Biomarker disease BEFREE Sm-SLP-1 was immunolocalized to the gastrodermis of adult worms, but did not confer protection in a murine vaccination model of schistosomiasis. 18571965 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.010 Biomarker disease BEFREE To investigate the role of alpha4 (Ch 20) and beta2 (Ch 1) genes in conferring a risk for smoking and for smoking a large number of cigarettes daily in subjects with schizophrenia. 18043764 2007