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 Biomarker disease GENOMICS_ENGLAND Genetic causes of hypomagnesemia, a clinical overview. 27234911 2017
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		0.910 CausalMutation disease CLINVAR Adult presentation of Bartter syndrome type IV with erythrocytosis. 26537508 2016
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		0.910 Biomarker disease CLINGEN Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene. 23110775 2014
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 CausalMutation disease CLINVAR Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family. 21269598 2011
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		0.910 Biomarker disease MGD Generation and analyses of R8L barttin knockin mouse. 21593186 2011
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		0.910 CausalMutation disease CLINVAR Disease-causing dysfunctions of barttin in Bartter syndrome type IV. 18776122 2009
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 Biomarker disease CLINGEN Disease-causing dysfunctions of barttin in Bartter syndrome type IV. 18776122 2009
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		0.910 Biomarker disease CLINGEN Endocochlear potential depends on Cl- channels: mechanism underlying deafness in Bartter syndrome IV. 18833191 2008
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		0.910 CausalMutation disease CLINVAR Unusual adult-onset manifestation of an attenuated Bartter's syndrome type IV renal phenotype caused by a mutation in BSND. 16935888 2007
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		0.910 Biomarker disease CLINGEN 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 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 CausalMutation disease CLINVAR Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families. 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 CausalMutation disease CLINVAR A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV. 16328537 2006
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		0.910 Biomarker disease CLINGEN 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 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 CausalMutation disease CLINVAR 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 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 Biomarker disease CLINGEN 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 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 CausalMutation disease CLINVAR Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. 11734858 2001
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		0.910 Biomarker disease GENOMICS_ENGLAND 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 Biomarker disease CLINGEN Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. 11734858 2001