Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Isobutyryl-CoA dehydrogenase deficiency
0.730 GeneticVariation disease BEFREE Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening. 17924841 2007
Isobutyryl-CoA dehydrogenase deficiency
0.730 Biomarker disease BEFREE Our results broaden the mutational spectrum of ACAD8 and improve the understanding of the clinical phenotype of IBDHD. 30253142 2018
Isobutyryl-CoA dehydrogenase deficiency
0.730 Biomarker disease BEFREE The created databases include ACAD8 (isobutyryl-CoA dehydrogenase deficiency (IBD)), ACADSB (short-chain acyl-CoA dehydrogenase (SCAD) deficiency), AUH (3-methylglutaconic aciduria (3-MGCA)), DHCR7 (Smith-Lemli-Opitz syndrome), HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency), HSD17B10 (17-beta-hydroxysteroid dehydrogenase X deficiency), FKBP14 (Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; EDSKMH) and ROGDI (Kohlschütter-Tönz syndrome). 25111118 2014
CUI: C0002871
Disease: Anemia
Anemia
0.160 GeneticVariation disease BEFREE Prevalence of Anemia in Pediatric IBD Patients and Impact on Disease Severity: Results of the Pediatric IBD-Registry CEDATA-GPGE®. 29358946 2017
CUI: C0002871
Disease: Anemia
Anemia
0.160 Biomarker disease BEFREE Anaemia is an important complication of inflammatory bowel disease [IBD]. 28575481 2017
CUI: C0002871
Disease: Anemia
Anemia
0.160 Biomarker disease BEFREE Anaemia is common in patients with inflammatory bowel disease [IBD], its two main aetiologies being iron deficiency anaemia [IDA] and anaemia of chronic inflammation [ACI]. 31665264 2020
CUI: C0002871
Disease: Anemia
Anemia
0.160 Biomarker disease BEFREE Clinicians should strongly consider investigation for IBD in young patients presenting with diarrhoea and anaemia [in males] following PA. Future research should discern appropriate screening strategies for this high-risk cohort. 30544202 2019
CUI: C0002871
Disease: Anemia
Anemia
0.160 Biomarker disease BEFREE Expert commentary: Anemia in IBD is polyetiological, reaching far beyond iron deficiency anemia. 27885843 2017
CUI: C0002871
Disease: Anemia
Anemia
0.160 Biomarker disease BEFREE Ferinject®-therapy was proven to be effective and safe in a large cohort of patients with IBD-associated anaemia in routine practice. 29955835 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Overall, outcome from our current studies identifies Cld-1 as potential prognostic biomarker for IBD severity and CAC, and a novel therapeutic target. 30971761 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Alterations in mitochondrial function and MT-UPR activation are integral aspects of pathologies, including IBD and cancer. 29844587 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Korean patients with IBD are at increased risk for overall, intestinal and haematological cancer. 28333358 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE Considering the high risk of dysplasia and cancer in inflammatory bowel disease [IBD], surveillance is advocated. 30597029 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE The registries included those falling within the remit of national statistics, hospital databases, twin and multiplex registries, inflammatory bowel disease [IBD] registries and biobanks, and cancer and surgical registries. 28158624 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE CRC was not observed in our cohort.The six extraintestinal malignancies did not show significant relation to IBD. 29147110 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE The aims of the study were to determine the prevalence of intestinal/extraintestinal cancers in an IBD cohort 20 years after diagnosis and to assess whether these patients had an increased cancer-specific risk compared with a matched control population. 28453756 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Our findings suggest possible roles of TP53 and KRAS as biomarkers for cancer and dysplasia screening among patients with IBD and may also provide targeted therapy in patients with IBD-CRC. 28077799 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Further studies are needed to explore the impact of comorbid conditions on the risk of cancer in IBD. 30874294 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE Among 75 patients with active IBD and PSC treated with vedolizumab, 21 patients discontinued vedolizumab before Week 30 [due to lack of efficacy in 19 and malignancy in two patients]. 31056693 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE Cancer risk in IBD: how to diagnose and how to manage DALM and ALM. 21912466 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE The results were stratified by malignancy or IBD. 31318768 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE IBD-CRN cases included 17 with ulcerative colitis (UC) and two with Crohn's disease (CD); nine had cancer and 10 had dysplasia. 23347191 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE The extent of lymph node harvesting during surgery for colorectal neoplasm [dysplasia and/or cancer] complicating inflammatory bowel disease [IBD] is a matter of debate. 28369422 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE However, mTOR pathway was activated in IBD but not in CAC. 25569743 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation group BEFREE Here we define the in vivo role of BVES in colitis-associated cancer (CAC), its cellular function and its relevance to patients with IBD. 28389570 2017