Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.400 GeneticVariation disease BEFREE Bartter syndrome type IV, also known as Bartter syndrome with sensorineural deafness (BSND), is caused by loss-of-function mutations in the BSND gene, which encodes barttin, an accessory subunit of chloride channels located in the kidney and inner ear. 21158220 2010
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.400 GeneticVariation disease BEFREE Barttin mutations cause Bartter syndrome type IV, a salt-wasting nephropathy with sensorineural deafness. 29674316 2018
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.400 GeneticVariation disease BEFREE Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome. 18843510 2009
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.400 GeneticVariation disease BEFREE Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families. 16572343 2006
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.400 GeneticVariation disease BEFREE Bartter syndrome with sensorineural deafness (type IV Bartter syndrome) is a subtype of this tubular disease, and is due to mutations in the BSND gene. 16583241 2006
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.200 GeneticVariation disease BEFREE All twelve reported BSND mutations cause SND, whereas only two of the mutations give rise to normal glomerular filtration rate (GFR) and two other mutations cause hypercalciuria. 18843510 2009
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.200 GeneticVariation disease BEFREE Bartter syndrome with sensorineural deafness (type IV Bartter syndrome) is a subtype of this tubular disease, and is due to mutations in the BSND gene. 16583241 2006
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.200 GeneticVariation disease BEFREE Barttin mutations cause Bartter syndrome type IV, a salt-wasting nephropathy with sensorineural deafness. 29674316 2018
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.200 GeneticVariation disease BEFREE In the present study, we identified two novel missense mutations in BSND gene causing Bartter syndrome type IV which is a genetic disease with an autosomal recessive transmission, characterized by hypokalaemia, metabolic alkalosis, an elevation in plasma renin activity and hyperaldosteronism as well as sensorineural deafness. 30174009 2018
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.200 GeneticVariation disease BEFREE BS with sensorineural deafness (SND, OMIM602522) is a newly identified phenotype caused by mutations in the BSND gene that encodes barttin, a beta-subunit for chloride channel ClC-Ka and ClC-Kb and classified as type IV BS. 18310267 2008
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.200 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: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.200 GeneticVariation disease BEFREE Type IV Bartter syndrome is a type of neonatal Bartter syndrome with sensorineural deafness and has been recently shown to be caused by mutations in the BSND gene. 16328537 2006
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.200 GeneticVariation disease BEFREE Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. 11687798 2001
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.200 GeneticVariation disease BEFREE Loss-of-function mutations in barttin thus cause Bartter syndrome with sensorineural deafness. 12920401 2003
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		0.110 GeneticVariation disease BEFREE In the present study, we identified two novel missense mutations in BSND gene causing Bartter syndrome type IV which is a genetic disease with an autosomal recessive transmission, characterized by hypokalaemia, metabolic alkalosis, an elevation in plasma renin activity and hyperaldosteronism as well as sensorineural deafness. 30174009 2018
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		0.100 GeneticVariation disease GWASCAT Integrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis. 25085501 2014
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.100 GeneticVariation disease BEFREE Analysis of the 170 EBV genome sequences from NPC and EBV-associated gastric cancers revealed that the frequency of this SNP was associated with NPC incidence and this SNP was found to be accumulated in the BART promoter region. 31606205 2019
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.100 GeneticVariation disease BEFREE These SNPs can result in altered levels of expression of some miRNAs from the BART variant frequently present in Chinese and Indonesian nasopharyngeal carcinoma (NPC) samples. 28515295 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.090 GeneticVariation group BEFREE To the contrary, the majority of humanized mice infected with the BART miRNA knockout mutant developed tumors more rapidly, probably due to enhanced LMP1 expression, although deletion of the BART miRNAs did not modify the virus transforming abilities in vitro. 26694854 2015
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		0.030 GeneticVariation disease BEFREE The results support previous data indicating that mutations that are predicted to abolish barttin expression are associated with a severe phenotype and early onset renal failure. 23110775 2014
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		0.030 GeneticVariation disease BEFREE Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. 11687798 2001
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		0.030 GeneticVariation disease BEFREE The functional consequences of p.I12T differ from BSND mutations that cause renal failure and deafness in Bartter syndrome type IV. p.I12T leaves chloride channel function unaffected and only interferes with chaperone function of barttin in intracellular trafficking. 19646679 2009
CUI: C0011053
Disease: Deafness
Deafness 		0.020 GeneticVariation phenotype LHGDN Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families. 16572343 2006
CUI: C0011053
Disease: Deafness
Deafness 		0.020 GeneticVariation phenotype LHGDN Barttin mutations in antenatal Bartter syndrome with sensorineural deafness. 16773427 2006
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