Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		0.910 GeneticVariation disease CLINVAR Phosphate homeostasis in Bartter syndrome: a case-control study. 24902942 2014
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		0.910 GeneticVariation disease UNIPROT Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene. 12761627 2003
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		0.910 GeneticVariation disease CLINVAR Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. 19096086 2009
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		0.910 GeneticVariation disease BEFREE Mutations in the recently described BSND gene, mapped in chromosome 1p31, have been reported to be associated with BSND. 16572343 2006
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		0.910 GeneticVariation disease CLINVAR Type IV Bartter syndrome: report of two new cases. 16583241 2006
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		0.910 GeneticVariation disease UNIPROT Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin. 12574213 2003
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		0.910 GeneticVariation disease CLINVAR Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. 11687798 2001
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		0.910 GeneticVariation disease UNIPROT Barttin increases surface expression and changes current properties of ClC-K channels. 12111250 2002
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		0.910 GeneticVariation disease UNIPROT Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. 11687798 2001
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.400 GeneticVariation disease BEFREE Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV. 28012523 2017
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.400 GeneticVariation disease BEFREE Palmitoylation of the accessory subunit barttin might thus play a role in chloride channel dysfunction in certain variants of Bartter syndrome. 26013830 2015
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.400 GeneticVariation disease BEFREE Type 4 Bartter syndrome (BS) is caused by genetic mutations in barttin, which is coded for by BSND. 31362893 2019
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.400 GeneticVariation disease BEFREE Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family. 21269598 2011
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.400 GeneticVariation disease LHGDN 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 LHGDN In addition, we generated several stable cell lines expressing mutant barttins to clarify the consequence of the previously reported barttin mutations in Bartter syndrome. 12761627 2003
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.400 GeneticVariation disease BEFREE This function can be clearly seen since mutations in CLCNKB or BSND cause Bartter's syndrome types III and IV, respectively. 31177533 2019
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.400 GeneticVariation disease BEFREE We analyzed the BSND gene in a patient with type IV Bartter syndrome. 16328537 2006
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.400 GeneticVariation disease BEFREE Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene. 23110775 2014
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.400 GeneticVariation disease BEFREE Loss-of-function mutations in barttin thus cause Bartter syndrome with sensorineural deafness. 12920401 2003
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.400 GeneticVariation disease BEFREE Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. 11687798 2001
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.400 GeneticVariation disease BEFREE We identified two novel missense mutations p.Arg8Gly and p.Thr36Asn in exon 1 of BSND gene; both mutations were described for the first time in Moroccan patients with Bartter syndrome type IV. 30174009 2018
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.400 GeneticVariation disease LHGDN Barttin mutations in antenatal Bartter syndrome with sensorineural deafness. 16773427 2006
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.400 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: C0004775
Disease: Bartter Disease
Bartter Disease 		0.400 GeneticVariation disease BEFREE In addition, we generated several stable cell lines expressing mutant barttins to clarify the consequence of the previously reported barttin mutations in Bartter syndrome. 12761627 2003
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		0.400 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