Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0008039
Disease: Cheyne-Stokes Respiration
Cheyne-Stokes Respiration
0.010 GeneticVariation phenotype BEFREE Background The contribution of the lung or the plant gain ( PG ; ie, change in blood gases per unit change in ventilation) to Cheyne-Stokes respiration ( CSR ) in heart failure has only been hypothesized by mathematical models, but never been directly evaluated. 31237174 2019
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.010 GeneticVariation disease BEFREE Here, we describe a patient whose features we would suggest represent a new FGFR2-related syndrome, craniosynostosis with XY male-to-female sex reversal or CSR. 26362256 2015
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 GeneticVariation disease BEFREE Within the CSR gene set, a group of 42 v-Src inducible genes was associated with reduced disease- and metastasis-free survival in several independent patient cohorts with breast or lung cancer. 20152043 2010
CUI: C0278704
Disease: Malignant Childhood Neoplasm
Malignant Childhood Neoplasm
0.010 GeneticVariation disease BEFREE In 22 childhood cancer survivors (median age: 14.8, range 6.4-21.6 years), mean GLS (- 13.83 ± 0.74% to - 15.94 ± 0.74%, p = 0.002), GCS (- 18.79 ± 1.21% to - 20.74 ± 0.84%, p = 0.027), LSR (- 0.78 ± 0.04 to - 0.88 ± 0.04 s<sup>-1</sup>, p = 0.022), and CSR (- 1.08 ± 0.07 to - 1.21 ± 0.06 s<sup>-1</sup>, p = 0.027) improved on therapy. 29789916 2018
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 GeneticVariation disease BEFREE Within the CSR gene set, a group of 42 v-Src inducible genes was associated with reduced disease- and metastasis-free survival in several independent patient cohorts with breast or lung cancer. 20152043 2010
CUI: C1285498
Disease: Vegetation
Vegetation
0.010 GeneticVariation disease BEFREE We measured 16 different functional traits and then ordinated the resulting vegetation within the CSR triangle using StrateFy. 28388622 2017
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 GeneticVariation disease BEFREE Within the CSR gene set, a group of 42 v-Src inducible genes was associated with reduced disease- and metastasis-free survival in several independent patient cohorts with breast or lung cancer. 20152043 2010
CUI: C3897752
Disease: Recurrent Childhood Glioblastoma
Recurrent Childhood Glioblastoma
0.010 GeneticVariation disease BEFREE In this phase I clinical study, we evaluated the safety and bioactivity of CSR-T cell therapy in 14 patients with recurrent glioblastoma who were unresponsive to surgical resection and standard radiotherapy. 31136972 2019
CUI: C4288305
Disease: Recurrent Glioblastoma
Recurrent Glioblastoma
0.010 GeneticVariation disease BEFREE In this phase I clinical study, we evaluated the safety and bioactivity of CSR-T cell therapy in 14 patients with recurrent glioblastoma who were unresponsive to surgical resection and standard radiotherapy. 31136972 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.080 Biomarker group BEFREE Transgenic mouse models of T(12;15)/t(8;14), including newly developed "iMyc" gene-insertion mice, will be useful in elucidating the role of these CSR factors in the progression of Myc-induced B cell tumors. 16815105 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.080 Biomarker group BEFREE A clustering enrichment regime using the CSR genes and two independent breast tumor data-sets was used to identify a 42-gene aggressive tumor gene signature. 20152043 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.080 Biomarker group BEFREE The present findings suggest that CSR1 is a potent tumor sup-pressor gene. 16436673 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.080 Biomarker group BEFREE Cellular stress response 1 (CSR1) is a tumor suppressor gene that plays an important role in regulating cell death. 27148859 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.080 Biomarker group BEFREE Cellular Stress Response 1 (CSR1) is a tumor suppressor gene and frequently deleted in prostate cancers. 29705808 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.080 Biomarker group BEFREE CSR1 suppresses tumor growth and metastasis of human hepatocellular carcinoma via inhibition of HPIP. 28975986 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.040 Biomarker disease BEFREE Cellular Stress Response 1 (CSR1) is a tumor suppressor gene and frequently deleted in prostate cancers. 29705808 2018
CUI: C0018801
Disease: Heart failure
Heart failure
0.030 Biomarker disease BEFREE Conclusions PG is a powerful contributor of CSR and should be evaluated together with the CG and circulation time to individualize treatments aimed at stabilizing breathing in heart failure. 31237174 2019
CUI: C0018801
Disease: Heart failure
Heart failure
0.030 Biomarker disease BEFREE Our findings suggest the novel concept that the negative pattern of CSR-CSA may constitute a form of auto-resuscitation that acts as a compensatory mechanism to maintain SV in patients with severe HF. 30946471 2019
CUI: C0018801
Disease: Heart failure
Heart failure
0.030 Biomarker disease BEFREE This study investigated the association of microstructural cerebral lesions with central sleep apnea with Cheyne-Stokes-respiration (CSA-CSR) in heart failure (HF) patients and the effect of positive airway pressure therapy (PAP) of CSA-CSR on these lesions. 29102807 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.030 Biomarker disease BEFREE This study investigated the association of microstructural cerebral lesions with central sleep apnea with Cheyne-Stokes-respiration (CSA-CSR) in heart failure (HF) patients and the effect of positive airway pressure therapy (PAP) of CSA-CSR on these lesions. 29102807 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.030 Biomarker disease BEFREE Conclusions PG is a powerful contributor of CSR and should be evaluated together with the CG and circulation time to individualize treatments aimed at stabilizing breathing in heart failure. 31237174 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.030 Biomarker disease BEFREE Our findings suggest the novel concept that the negative pattern of CSR-CSA may constitute a form of auto-resuscitation that acts as a compensatory mechanism to maintain SV in patients with severe HF. 30946471 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 Biomarker phenotype BEFREE CSR1 suppresses tumor growth and metastasis of human hepatocellular carcinoma via inhibition of HPIP. 28975986 2017