Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
0.700 Biomarker disease GENOMICS_ENGLAND Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. 27486781 2016
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
0.700 GeneticVariation disease UNIPROT Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. 27486781 2016
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
0.700 Biomarker disease GENOMICS_ENGLAND Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. 27486781 2016
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
0.700 Biomarker disease CTD_human
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
0.700 CausalMutation disease CLINVAR
CUI: C0154832
Disease: Exudative retinopathy
Exudative retinopathy
0.410 Biomarker disease BEFREE Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy. 26908610 2016
CUI: C0154832
Disease: Exudative retinopathy
Exudative retinopathy
0.410 Biomarker disease GENOMICS_ENGLAND Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. 27486781 2016
Familial Exudative Vitreoretinopathy
0.410 Biomarker disease BEFREE Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy. 26908610 2016
Familial Exudative Vitreoretinopathy
0.410 Biomarker disease GENOMICS_ENGLAND Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. 27486781 2016
CUI: C0154832
Disease: Exudative retinopathy
Exudative retinopathy
0.410 GeneticVariation disease CLINVAR
Familial Exudative Vitreoretinopathy
0.410 GeneticVariation disease CLINVAR
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.330 Biomarker disease BEFREE To evaluate if glucagon-like peptide-1 receptor agonists (GLP-1RAs) reduce antipsychotic-associated body weight gain in patients with schizophrenia, when compared to controls. 30187620 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.330 Biomarker disease BEFREE The non-significant results of this first clinical trial exploring non-metabolic effects of a long-acting GLP-1RA in patients with schizophrenia could reflect a general problem of translating cognitive-enhancing effects of GLP-1RAs from animals to humans or be explained by factors specifically related to schizophrenia spectrum patients with obesity such as antipsychotic treatment. 28260235 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.330 AlteredExpression disease BEFREE A diagnosis of schizophrenia is a significant predictor for increased GLP, SETDB1 mRNA expression and H3K9me2 levels in both postmortem brain and lymphocyte samples. 23815974 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.330 Biomarker disease PSYGENET A diagnosis of schizophrenia is a significant predictor for increased GLP, SETDB1 mRNA expression and H3K9me2 levels in both postmortem brain and lymphocyte samples. 23815974 2013
Reticular Dystrophy Of Retinal Pigment Epithelium
0.300 GermlineCausalMutation disease ORPHANET Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. 27486781 2016
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 Biomarker group BEFREE Despite the early positioning of GLP-1RA in T2D treatment algorithms, GLP-1RA have been prescribed in patients with progressively more advanced disease stage and especially in the presence of cardiovascular disease. 31673896 2020
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 Biomarker group BEFREE Whereas glucose control using classical glucose-lowering agents (except perhaps metformin) largely fails to reduce cardiovascular disease (CVD), two new pharmacological classes, glucagon-like peptide-1 receptor agonists (GLP-1RAs) and sodium-glucose cotransporter type 2 inhibitors (SGLT2is), have proven their ability to reduce major cardiovascular events in patients with established CVD. 31108136 2020
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 Biomarker group BEFREE GLP-1RAs and SGLT2i are now advocated as second-line agents in European and US guidelines for management of both hyperglycaemia and for primary prevention of cardiovascular disease in people with T2DM. 31551292 2020
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 Biomarker group BEFREE Lately, GLP-1RAs have spiked the interest of researchers and clinicians due to their beneficial effects on CVD. 31825468 2020
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE Modulation of platelet function by diabetes agents in addition to their hypoglycemic effects would contribute to cardiovascular protection Newly introduced antidiabetic drugs of sodium-glucose cotransporter 2 inhibitors (SGLT2i), glucagon like peptide-1 receptor agonists (GLP-1RA) and dipeptidyl peptidase-4 inhibitors may have anti-platelet effects, and in the case of SGLT2i and GLP-1RA may contribute to their proven cardiovascular benefit that has been shown clinically. 31612835 2020
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE GLP-1RAs are associated with a reduction in cardiovascular morbidity and mortality in high-risk patients with diabetes. 31595657 2020
CUI: C0011847
Disease: Diabetes
Diabetes
0.100 Biomarker disease BEFREE GLP-1 receptor agonists (GLP-1RA) and dipeptidyl peptidase 4 inhibitors (DPP-4i) are two classes of antidiabetic agents used in the management of diabetes based on incretin hormones. 31837333 2020
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.100 Biomarker group BEFREE Modulation of platelet function by diabetes agents in addition to their hypoglycemic effects would contribute to cardiovascular protection Newly introduced antidiabetic drugs of sodium-glucose cotransporter 2 inhibitors (SGLT2i), glucagon like peptide-1 receptor agonists (GLP-1RA) and dipeptidyl peptidase-4 inhibitors may have anti-platelet effects, and in the case of SGLT2i and GLP-1RA may contribute to their proven cardiovascular benefit that has been shown clinically. 31612835 2020
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.100 Biomarker group BEFREE GLP-1 receptor agonists (GLP-1RA) and dipeptidyl peptidase 4 inhibitors (DPP-4i) are two classes of antidiabetic agents used in the management of diabetes based on incretin hormones. 31837333 2020