Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1378050
Disease: Oncocytic Neoplasm
Oncocytic Neoplasm
0.010 AlteredExpression disease BEFREE These results suggest that BSND is expressed only in normal salivary glands and oncocytic salivary gland tumors such as Warthin's tumor and oncocytoma in addition to the two known organs and the two known renal tumor types mentioned above. 28470573 2018
CUI: C1510502
Disease: Oxyphilic Adenoma
Oxyphilic Adenoma
0.010 AlteredExpression disease BEFREE These results suggest that BSND is expressed only in normal salivary glands and oncocytic salivary gland tumors such as Warthin's tumor and oncocytoma in addition to the two known organs and the two known renal tumor types mentioned above. 28470573 2018
CUI: C1609533
Disease: Functional abdominal pain
Functional abdominal pain
0.010 Biomarker phenotype BEFREE AP-FGID: Abdominal Pain Related Functional Gastrointestinal Disorders; BART: Biofeedback-Assisted Relaxation Training; CIN: Chronic Idiopathic Nausea; COS: Core Outcomes Sets; EPS: Epigastric Pain Syndrome; ESPGHAN: European Society for Pediatric Gastroenterology Hepatology and Nutrition; FAP: Functional Abdominal Pain; FD: Functional Dyspepsia; GERD: Gastroesophageal Reflux Disease; GES: Gastric Electrical Stimulation; H<sub>2</sub>RAs: H2 Receptor Antagonists; IBS: irritable bowel syndrome; NASPGHAN: North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition; PDS: Postprandial Distress Syndrome; PPIs: Proton Pump Inhibitor; PROMs: Patient Reported Outcome Measures; RCTs: Randomized Controlled Trials; SSRIs: selective serotonin reuptake inhibitors; TCAs: tricyclic antidepressants. 30360666 2018
CUI: C1848336
Disease: Dent disease 1
Dent disease 1
0.010 AlteredExpression disease BEFREE As barttin and ClC-5 are both expressed in the thin and thick ascending limbs of the Henle's loop and the collecting duct, interactions between the two proteins could potentially contribute to the phenotypic variability of DD1. 30405442 2018
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
0.010 AlteredExpression disease BEFREE Finally, the expression of BSND mRNA in 30 types of tumors other than chromophobe RCC and salivary gland tumors was examined using data from the TCGA database, but none of these tumors exhibited BSND expression. 28470573 2018
CUI: C4316909
Disease: Marijuana Use
Marijuana Use
0.010 Biomarker disease BEFREE College students were administered self-report questionnaires (Zuckerman Sensation Seeking Scale [ZSS], Barratt Impulsiveness Scale [BIS-11], behavioral measures related to risk-taking and impulsivity (Balloon Analog Risk Task [BART], Experiential Discounting Task [EDT]), and the substance use module of a clinical interview (past-six-month alcohol and marijuana use). 29660594 2018
CUI: C0004771
Disease: Bartonella Infections
Bartonella Infections
0.010 Biomarker group BEFREE A manufactured kit (RealCycler BART, Progenie Molecular) was commercialised shortly thereafter for the detection of Bartonella infection, including Bartonella henselae. 29068281 2017
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 AlteredExpression group BEFREE Dissecting the regulation of EBV's BART miRNAs in carcinomas. 28259048 2017
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
0.010 Biomarker disease BEFREE CLC-K/barttin chloride channels are essential for NaCl re-absorption in Henle's loop and for potassium secretion by the stria vascularis in the inner ear. 26013830 2015
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.010 AlteredExpression disease BEFREE However, we report here on three brothers with varying degrees of renal dysfunction from mild to end-stage renal disease associated with renal barttin and ClC-K expression. 21269598 2011
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 Biomarker disease BEFREE The known etiological role of hsa-miR-18 as an oncomiR suggests that miR-BART-5 may function as viral oncomiR as observed in EBV-positive gastric carcinoma patients. 21880309 2011
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.010 AlteredExpression disease BEFREE However, we report here on three brothers with varying degrees of renal dysfunction from mild to end-stage renal disease associated with renal barttin and ClC-K expression. 21269598 2011
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis
0.010 GeneticVariation disease BEFREE Three patients developed chronic renal failure: one with KCNJ1 mutations during the second decade of age and two with CLCNKB and BSND mutations and without nephrocalcinosis during the first year of life. 19096086 2009
CUI: C0151476
Disease: Hypochloremic alkalosis
Hypochloremic alkalosis
0.010 Biomarker disease BEFREE We confirmed in a large cohort of ante/ neonatal BS that deafness, transient hyperkalaemia and severe hypokalaemic hypochloraemic alkalosis orientate molecular investigations to BSND, KCNJ1 and CLCNKB genes, respectively. 19096086 2009
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.010 GeneticVariation disease BEFREE We demonstrate that BSND mutations with different functional consequences are the basis for either syndromic or nonsyndromic deafness. 19646679 2009
CUI: C4048195
Disease: Autosomal dominant hypocalcemia
Autosomal dominant hypocalcemia
0.010 GeneticVariation disease BEFREE Neonatal Bartter's syndrome is caused by mutations of NKCC2 or ROMK, classic Bartter's syndrome by mutations of ClC-Kb, Bartter's syndrome associated with sensorineural deafness is due to mutations of BSND, Gitelman's syndrome to mutations of NCCT and Bartter's syndrome associated with autosomal dominant hypocalcemia is linked to mutations of CASR. 15056980 2004
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
0.010 GeneticVariation disease BEFREE This might be due to a less severe loss of function of barttin induced by G47R mutation, compared with others, and our observation seems to suggest a possibility of the prevalence of mild form BSND with various levels of barttin dysfunction among patients with congenital deafness of unknown origin. 12574213 2003
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 Biomarker phenotype BEFREE In the present study, we quantified the plasma levels of EBV DNA/RNAs, such as LMP1, LMP2, BART and EBER1 with real-time quantitative PCR, and CTCs with a CellSpotter Analyzer in NPC patients, with or without metastasis. 31832991 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 AlteredExpression group BEFREE In NPC, miR-BARTs, the EBV-encoded miRNAs derived from BamH1-A rightward transcripts, are abundantly expressed and contribute to cancer development by targeting various cellular and viral genes. 29230817 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 Biomarker group BEFREE Accumulating evidence suggests that ebv-mir-BARTs play a critical role in host cell survival, immune escape, cell proliferation, cell apoptosis, and cancer metabolism, promoting the generation of NPC. 26909566 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 Biomarker phenotype BEFREE Reconstitution of PTEN rescues all phenotypes generated by EBV-miR-BART1, highlighting the role of PTEN in EBV-miR-BART-driven metastasis in NPC. 26135619 2015
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections
0.020 Biomarker group BEFREE Specifically, in nasopharyngeal carcinoma (NPC) tissues and the EBV-positive cell line C666-1, the miR-BART family accounted for more than 10% of all detected miRNAs, suggesting that these miRNAs have important roles in maintaining latent EBV infections and in driving NPC tumorigenesis. 24161012 2013
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections
0.020 AlteredExpression group BEFREE In the present study, we proved that six forms of BARTs were present in EBV-positive cell lines and various tissue specimens with different EBV infection patterns. 22700548 2012
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.020 GeneticVariation disease BEFREE We conclude that CLCNKB-T481S is associated with essential hypertension in males within the Ghanaian population; however, further studies are needed to understand its sex and ethnic segregation as well as to identify cellular factors that account for the divergent functional expression of ClC-Kb-T481S plus barttin in Xenopus oocytes and mammalian cells. 19226700 2009
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.020 GeneticVariation disease BEFREE Functional BSND variants in essential hypertension. 17954364 2007