Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 Biomarker disease BEFREE Meloxicam, a BCS class II drug belonging to the class of NSAIDs is indicated in conditions of rheumatoid arthritis, ankylosing spondylitis and osteoarthritis in which rapid onset of drug action is desired to reduce inflammation and pain. 28005437 2017
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.010 GeneticVariation group BEFREE We fed KD to mice with respiratory chain complex III (CIII) deficiency and progressive hepatopathy due to mutated BCS1L, a CIII assembly factor. 28424480 2017
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.010 Biomarker disease BEFREE Meloxicam, a BCS class II drug belonging to the class of NSAIDs is indicated in conditions of rheumatoid arthritis, ankylosing spondylitis and osteoarthritis in which rapid onset of drug action is desired to reduce inflammation and pain. 28005437 2017
CUI: C0030193
Disease: Pain
Pain
0.010 Biomarker phenotype BEFREE Meloxicam, a BCS class II drug belonging to the class of NSAIDs is indicated in conditions of rheumatoid arthritis, ankylosing spondylitis and osteoarthritis in which rapid onset of drug action is desired to reduce inflammation and pain. 28005437 2017
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.010 Biomarker disease BEFREE Pharmaceutical salts of BCS class II second line anti-tuberculosis drug ethionamide (ETH) with various counter ions namely, 2-chloro-4-nitrobenzoic acid (CNB), 2,6-dihydroxybenzoic acid (2,6HBA), 2,3-dihydroxybenzoic acid (2,3HBA) and 2,4-dinitrobenzoic acid (DNB) were synthesized by crystal engineering approach. 27815138 2017
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome
0.010 GeneticVariation disease BEFREE We therefore investigated the utility of the gene expression patterns of 12 candidate genes (<i>TLR1</i>, -<i>2</i>, -<i>4</i>, -<i>6</i>, and <i>10</i>, <i>DEFA1</i>, <i>LTF</i>, <i>IL1B</i>, <i>BPI</i>, <i>CRP</i>, <i>IFNG</i>, and <i>DEFB4A</i>) previously associated with infection for detection of PJI in periprosthetic tissues of patients with total joint arthroplasty (TJA) (<i>n</i> = 76) reoperated for PJI (<i>n</i> = 38) or aseptic failure (<i>n</i> = 38), using the ultrafast quantitative reverse transcription-PCR (RT-PCR) Xxpress system (BJS Biotechnologies Ltd.). 28637910 2017
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.010 Biomarker disease BEFREE The study provides crucial information regarding the importance of TYMS6bpdel/del genotype and associated hyperhomocysteinemia in susceptibility to PTD, fetal death and LBW; and thus indicating their prognostic significance of TYMS 6bp del/del genotype in PTD which is of clinical importance. 28627444 2017
CUI: C3160887
Disease: Node-positive breast cancer
Node-positive breast cancer
0.010 GeneticVariation disease BEFREE This retrospective analysis was performed on patients with node-positive breast cancer who were enrolled in the Adjuvant Lapatinib and/or Trastuzumab Treatment Optimization phase III adjuvant trial and subjected to BCS. 28376188 2017
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome
0.010 GeneticVariation disease BEFREE We report a novel homozygous missense mutation in the ubiquinol-cytochrome c reductase synthesis-like (BCS1L) gene in two consanguineous Turkish families associated with deafness, Fanconi syndrome (tubulopathy), microcephaly, mental and growth retardation. 26563427 2016
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.010 GeneticVariation disease BEFREE We report a novel homozygous missense mutation in the ubiquinol-cytochrome c reductase synthesis-like (BCS1L) gene in two consanguineous Turkish families associated with deafness, Fanconi syndrome (tubulopathy), microcephaly, mental and growth retardation. 26563427 2016
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.010 GeneticVariation disease BEFREE A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly. 26563427 2016
CUI: C1857395
Disease: De Toni-Debre-Fanconi Syndrome
De Toni-Debre-Fanconi Syndrome
0.010 GeneticVariation disease BEFREE We report a novel homozygous missense mutation in the ubiquinol-cytochrome c reductase synthesis-like (BCS1L) gene in two consanguineous Turkish families associated with deafness, Fanconi syndrome (tubulopathy), microcephaly, mental and growth retardation. 26563427 2016
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis
0.010 GeneticVariation disease BEFREE Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. 25895478 2015
CUI: C0028754
Disease: Obesity
Obesity
0.010 Biomarker disease BEFREE Following dietary acclimation, ponies were stratified into either Lean (n = 11, body condition score [BCS] ≤4) or Obese (n = 11, BCS ≥7) groups and each group further stratified to either remain on the control, low NSC diet (n = 5 each for Obese and Lean) or receive a high NSC diet (hay chop supplemented with sweet feed and oligofructose, total diet ∼42% NSC; n = 6 each for Obese and Lean) for a period of 7 days. 24963607 2015
CUI: C4721530
Disease: Congenital hypotrichia
Congenital hypotrichia
0.010 GeneticVariation disease BEFREE Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. 25895478 2015
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.010 Biomarker group BEFREE MLL-PTD can couple with other chromosome aberrations, and its impact on disease prognosis remains to be studied further. 24438617 2014
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.010 GeneticVariation disease BEFREE The aim of the present study was to develop a reliable and reproducible canine model to mimic human diffuse hepatic vein obstruction (Budd‑Chiari syndrome, BCS). 24345960 2014
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome
0.010 GeneticVariation disease BEFREE The aim of the present study was to develop a reliable and reproducible canine model to mimic human diffuse hepatic vein obstruction (Budd‑Chiari syndrome, BCS). 24345960 2014
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.010 GeneticVariation disease BEFREE Of the 10 WT1-mutated cases, eight (80 %) had mutations in other genes, including FLT3-ITD in two cases, FLT3-D835 mutation in two, KIT mutation in three, MLL-PTD in three, NRAS mutation in one, and KRAS mutation in two (in some cases, more than one additional gene was mutated). 23979985 2013
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.010 Biomarker disease BEFREE Tat-PTD-modified oncolytic adenovirus driven by the SCG3 promoter and ASH1 enhancer for neuroblastoma therapy. 23889332 2013
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 Biomarker disease BEFREE Tat-PTD-modified oncolytic adenovirus driven by the SCG3 promoter and ASH1 enhancer for neuroblastoma therapy. 23889332 2013
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.010 Biomarker disease BEFREE Tat-PTD-modified oncolytic adenovirus driven by the SCG3 promoter and ASH1 enhancer for neuroblastoma therapy. 23889332 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 Biomarker disease BEFREE In this study, haFGF(14-154) and TAT-haFGF(14-154) (haFGF(14-154) fused with the cell-penetrating peptide transactivator of transcription protein transduction domain (TAT-PTD)) were intranasally administrated for 5 weeks to investigate the effects on senescence-accelerated mouse prone-8 (SAMP8) mice (a mouse model of AD). 22885230 2012
CUI: C0011175
Disease: Dehydration
Dehydration
0.010 Biomarker phenotype BEFREE BCS was diagnosed during the course of an episode of acute gastroenteritis with dehydration. 22452639 2012
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension
0.010 Biomarker disease BEFREE BCS is a rare form of portal hypertension in children. 22452639 2012