Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0445118
Disease: Nephrotic range proteinuria
Nephrotic range proteinuria 		0.100 Biomarker phenotype HPO
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0743360
Disease: Recurrent ear infections
Recurrent ear infections 		0.100 Biomarker group HPO
CUI: C1837899
Disease: Type I transferrin isoform profile
Type I transferrin isoform profile 		0.100 Biomarker phenotype HPO
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C4021845
Disease: Oromotor apraxia
Oromotor apraxia 		0.100 Biomarker disease HPO
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.100 Biomarker phenotype HPO
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination 		0.100 Biomarker phenotype HPO
CUI: C4316995
Disease: Primary Hypothyroidism
Primary Hypothyroidism 		0.100 Biomarker disease HPO
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.030 Biomarker disease BEFREE Identified gaps in the literature include; lack of accurate epidemiological data on incident infection, untreated chronic HCV infection particularly in PWUD living outside Dublin and those not engaged with OST. 31395032 2019
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.030 Biomarker disease BEFREE D3FEAT is an international open-label study that recruited treatment-naïve participants with recent injecting drug use (previous 6 months) and/or receiving OST with chronic HCV G1 infection between June 2016 and February 2017 in seven countries. 30384028 2018
CUI: C0242510
Disease: Drug usage
Drug usage 		0.030 GeneticVariation phenotype BEFREE D3FEAT is an international open-label study that recruited treatment-naïve participants with recent injecting drug use (previous 6 months) and/or receiving OST with chronic HCV G1 infection between June 2016 and February 2017 in seven countries. 30384028 2018
CUI: C0242510
Disease: Drug usage
Drug usage 		0.030 Biomarker phenotype BEFREE These findings underscore the importance of expansion of services including OST to help reduce drug use and facilitate IDU cessation for those who wish to do so. 29482055 2018
CUI: C0242510
Disease: Drug usage
Drug usage 		0.030 Biomarker phenotype BEFREE In this real-life study in a middle-income country, PWID treated for HCV and receiving a simple peer-support intervention demonstrated an excellent treatment response and good adherence, not associated with injecting drug use during treatment and OST at treatment initiation. 30384026 2018
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.030 Biomarker disease BEFREE In this analysis of the ASTRAL trials (non-opioid substitution therapy [OST], n = 984; OST, n = 51) evaluating the once-daily, pan-genotypic regimen of sofosbuvir/velpatasvir for hepatitis C virus infection, OST did not impact completion, adherence, sustained virologic response (SVR12), or safety. 27553377 2016
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.020 AlteredExpression disease BEFREE Here the objective of the study was to increase the expression of OST48 to examine if this slowed the development of DKD by facilitating the clearance of AGEs. 31541173 2019
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.020 Biomarker disease BEFREE Quantitative polymerase chain reaction was employed to quantify expression of two genes coding for advanced glycation end-product receptors [RAGE ( AGER) and AGER1 ( DDOST)] and of the gene coding the deacetylase SIRT1 ( SIRT1) in peripheral blood mononuclear cells from type 1 diabetes patients without [Group A, n = 35; 28.5 (24-39) years old; median (interquartile interval)] or with at least one microvascular complication [Group B, n = 117; 34.5 (30-42) years old]; 31 healthy controls were also included. 29027826 2018
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.020 Biomarker disease BEFREE OST index ≤2 predicted osteoporosis with a sensitivity of 95.7% and a specificity of 33.6% and an area under the curve for a receiver operating characteristic curve of 0.702. 27210803 2018
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.020 Biomarker disease BEFREE A total of 42 rats were used and divided in to the following experimental groups: CTL: control group (rats submitted to fictitious surgery and fed with a balanced diet), OST: osteoporosis group (rats submitted to a bilateral ovariectomy and fed with a low calcium diet) and ALE: alendronate group (rats submitted to a bilateral ovariectomy, fed with a low calcium diet and treated with sodium alendronate). 28198975 2017
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.020 Biomarker disease BEFREE DDOST, PRKCSH and LGALS3, which encode AGE-receptors 1, 2 and 3, respectively, are not associated with diabetic nephropathy in type 1 diabetes. 20490454 2010
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.020 Biomarker disease BEFREE DDOST, PRKCSH and LGALS3, which encode AGE-receptors 1, 2 and 3, respectively, are not associated with diabetic nephropathy in type 1 diabetes. 20490454 2010