Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1865276
Disease: Global glomerulosclerosis
Global glomerulosclerosis 		0.100 Biomarker phenotype HPO
CUI: C1865279
Disease: Fetal polyuria
Fetal polyuria 		0.100 Biomarker phenotype HPO
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis 		0.100 Biomarker phenotype HPO
CUI: C3671887
Disease: Hypernatriuria
Hypernatriuria 		0.100 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C3807131
Disease: Reduced renal corticomedullary differentiation
Reduced renal corticomedullary differentiation 		0.100 Biomarker phenotype HPO
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		0.910 Biomarker disease GENOMICS_ENGLAND Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. 9463315 1998
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.300 Biomarker phenotype GENOMICS_ENGLAND Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. 9463315 1998
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
CUI: C1865270
Disease: BARTTER SYNDROME, TYPE 4A
BARTTER SYNDROME, TYPE 4A 		0.910 Biomarker disease CLINGEN 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 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 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 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 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 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 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 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 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