Disease table of BARTTER SYNDROME OMIM ID: PS601678

Gene-disease associations table

GeneAssociated with BARTTER SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
CLCNKAClinVar, OMIM, HUMSAVARHGNC link1p36.131PS601678
SLC12A1OMIM, HUMSAVARHGNC link15q21.11PS601678
KCNJ1OMIM, HUMSAVARHGNC link11q24.31PS601678
BSNDClinVar, OMIM, HUMSAVARHGNC link1p32.31PS601678
CLCNKBClinVar, OMIM, HUMSAVARHGNC link1p36.131PS601678

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Common tandem groupNumber of genes in this tandem group associated to this diseaseGenes in this tandem group associated to this disease
Group 122CLCNKA, CLCNKB
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
1p36.132CLCNKA, CLCNKB
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
1p362CLCNKA, CLCNKB
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
1p33CLCNKA, CLCNKB, BSND
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
1p3CLCNKA, CLCNKB, BSND
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
13CLCNKA, CLCNKB, BSND
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
CLCNKAYES2MAZ, KLF150
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Excretory systemNEW5.450.004BSND, CLCNKB, KCNJ1
Collecting duct acid secretion (hsa04966) NEW7.910.0BSND, CLCNKB
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Transmembrane transport of small moleculesR-HSA-3825513.794SLC12A1, BSND, CLCNKB, CLCNKA
Ion channel transportR-HSA-9837125.343BSND, CLCNKB, CLCNKA
Stimuli-sensing channelsR-HSA-26723516.283BSND, CLCNKB, CLCNKA

NET-GE enrichment

Term New enriched termICP valueGenes
Ion channel transport (R-HSA-983712) -5.340.002BSND, CLCNKB, CLCNKA
Transmembrane transport of small molecules (R-HSA-382551) -3.790.001CLCNKB, BSND, SLC12A1, KCNJ1, CLCNKA
Stimuli-sensing channels (R-HSA-2672351) -6.280.001BSND, CLCNKB, CLCNKA
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
substrate-specific transmembrane transporter activity (GO:0022891) 2.95SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
transporter activity (GO:0005215) 2.575SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
transmembrane transporter activity (GO:0022857) 2.825CLCNKB, BSND, SLC12A1, KCNJ1, CLCNKA
substrate-specific transporter activity (GO:0022892) 2.725SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
ion transmembrane transporter activity (GO:0015075) 3.045SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
voltage-gated ion channel activity (GO:0005244) 4.494BSND, CLCNKB, KCNJ1, CLCNKA
anion transmembrane transporter activity (GO:0008509) 4.434SLC12A1, BSND, CLCNKB, CLCNKA
chloride transmembrane transporter activity (GO:0015108) 5.244SLC12A1, CLCNKB, BSND, CLCNKA
voltage-gated channel activity (GO:0022832) 4.494BSND, CLCNKB, KCNJ1, CLCNKA
channel activity (GO:0015267) 3.64BSND, CLCNKB, KCNJ1, CLCNKA
gated channel activity (GO:0022836) 3.964BSND, CLCNKB, KCNJ1, CLCNKA
inorganic anion transmembrane transporter activity (GO:0015103) 4.874SLC12A1, CLCNKB, BSND, CLCNKA
passive transmembrane transporter activity (GO:0022803) 3.64BSND, CLCNKB, KCNJ1, CLCNKA
substrate-specific channel activity (GO:0022838) 3.674BSND, CLCNKB, KCNJ1, CLCNKA
ion channel activity (GO:0005216) 3.714BSND, CLCNKB, KCNJ1, CLCNKA
cation binding (GO:0043169) 1.43CLCNKB, KCNJ1, CLCNKA
metal ion binding (GO:0046872) 1.413CLCNKB, KCNJ1, CLCNKA
ion binding (GO:0043167) 1.363CLCNKB, KCNJ1, CLCNKA
binding (GO:0005488) 0.183CLCNKB, KCNJ1, CLCNKA
voltage-gated chloride channel activity (GO:0005247) 7.253BSND, CLCNKB, CLCNKA
anion channel activity (GO:0005253) 5.233BSND, CLCNKB, CLCNKA
chloride channel activity (GO:0005254) 5.363BSND, CLCNKB, CLCNKA
voltage-gated anion channel activity (GO:0008308) 6.913BSND, CLCNKB, CLCNKA
cation transmembrane transporter activity (GO:0008324) 3.322SLC12A1, KCNJ1

NET-GE enrichment

Term New enriched termICP valueGenes
substrate-specific transmembrane transporter activity (GO:0022891) -2.90.001SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
anion transmembrane transporter activity (GO:0008509) -4.430.002SLC12A1, BSND, CLCNKB, CLCNKA
voltage-gated ion channel activity (GO:0005244) -4.490.001BSND, CLCNKB, KCNJ1, CLCNKA
substrate-specific channel activity (GO:0022838) -3.670.009BSND, CLCNKB, KCNJ1, CLCNKA
chloride channel regulator activity (GO:0017081) NEW7.030.001BSND, KCNJ1
transporter activity (GO:0005215) -2.570.009SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
ion channel activity (GO:0005216) -3.710.008BSND, CLCNKB, KCNJ1, CLCNKA
voltage-gated anion channel activity (GO:0008308) -6.910.001BSND, CLCNKB, CLCNKA
ion transmembrane transporter activity (GO:0015075) -3.040.002SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
voltage-gated channel activity (GO:0022832) -4.490.001BSND, CLCNKB, KCNJ1, CLCNKA
transmembrane transporter activity (GO:0022857) -2.820.003CLCNKB, BSND, SLC12A1, KCNJ1, CLCNKA
substrate-specific transporter activity (GO:0022892) -2.720.004SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
gated channel activity (GO:0022836) -3.960.001BSND, CLCNKB, KCNJ1, CLCNKA
inorganic anion transmembrane transporter activity (GO:0015103) -4.870.0SLC12A1, CLCNKB, BSND, CLCNKA
channel activity (GO:0015267) -3.60.01BSND, CLCNKB, KCNJ1, CLCNKA
voltage-gated chloride channel activity (GO:0005247) -7.250.001BSND, CLCNKB, CLCNKA
passive transmembrane transporter activity (GO:0022803) -3.60.01BSND, CLCNKB, KCNJ1, CLCNKA
anion channel activity (GO:0005253) -5.230.013BSND, CLCNKB, CLCNKA
chloride channel activity (GO:0005254) -5.360.011BSND, CLCNKB, CLCNKA
chloride transmembrane transporter activity (GO:0015108) -5.240.0SLC12A1, BSND, CLCNKB, CLCNKA
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
ion transport (GO:0006811) 2.665CLCNKB, BSND, SLC12A1, KCNJ1, CLCNKA
transport (GO:0006810) 1.515CLCNKB, BSND, SLC12A1, KCNJ1, CLCNKA
localization (GO:0051179) 1.45SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
ion transmembrane transport (GO:0034220) 3.085SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
inorganic ion transmembrane transport (GO:0098660) 3.385SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
establishment of localization (GO:0051234) 1.485CLCNKB, BSND, SLC12A1, KCNJ1, CLCNKA
transmembrane transport (GO:0055085) 2.725SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
chloride transmembrane transport (GO:1902476) 5.224BSND, CLCNKB, SLC12A1, CLCNKA
regulation of transport (GO:0051049) 2.244BSND, CLCNKB, KCNJ1, CLCNKA
anion transport (GO:0006820) 3.714BSND, CLCNKB, SLC12A1, CLCNKA
chloride transport (GO:0006821) 5.134SLC12A1, CLCNKB, BSND, CLCNKA
biological regulation (GO:0065007) 0.394BSND, CLCNKB, KCNJ1, CLCNKA
regulation of transmembrane transport (GO:0034762) 3.744BSND, CLCNKB, KCNJ1, CLCNKA
inorganic anion transmembrane transport (GO:0098661) 5.044BSND, CLCNKB, SLC12A1, CLCNKA
inorganic anion transport (GO:0015698) 4.774BSND, CLCNKB, SLC12A1, CLCNKA
anion transmembrane transport (GO:0098656) 4.514SLC12A1, BSND, CLCNKB, CLCNKA
regulation of ion transmembrane transport (GO:0034765) 3.774BSND, CLCNKB, KCNJ1, CLCNKA
regulation of localization (GO:0032879) 1.944BSND, CLCNKB, KCNJ1, CLCNKA
regulation of biological process (GO:0050789) 0.454BSND, CLCNKB, KCNJ1, CLCNKA
regulation of ion transport (GO:0043269) 3.44BSND, CLCNKB, KCNJ1, CLCNKA
multicellular organismal process (GO:0032501) 1.453CLCNKB, KCNJ1, CLCNKA
regulation of anion transport (GO:0044070) 5.253BSND, CLCNKB, CLCNKA
regulation of anion transmembrane transport (GO:1903959) 6.363BSND, CLCNKB, CLCNKA
excretion (GO:0007588) 6.043CLCNKB, KCNJ1, CLCNKA
system process (GO:0003008) 2.33CLCNKB, KCNJ1, CLCNKA
potassium ion transport (GO:0006813) 4.682SLC12A1, KCNJ1
cation transport (GO:0006812) 3.112SLC12A1, KCNJ1
cellular process (GO:0009987) 0.262SLC12A1, KCNJ1
single-organism cellular process (GO:0044763) 0.652SLC12A1, KCNJ1
metal ion transport (GO:0030001) 3.362SLC12A1, KCNJ1
monovalent inorganic cation transport (GO:0015672) 3.742SLC12A1, KCNJ1
single-organism process (GO:0044699) 0.482SLC12A1, KCNJ1

NET-GE enrichment

Term New enriched termICP valueGenes
anion transport (GO:0006820) -3.710.0SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
chloride transport (GO:0006821) -5.130.0SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
regulation of ion transmembrane transport (GO:0034765) -3.770.004BSND, CLCNKB, KCNJ1, CLCNKA
regulation of anion transport (GO:0044070) -5.250.002BSND, CLCNKB, CLCNKA
regulation of transmembrane transport (GO:0034762) -3.740.004BSND, CLCNKB, KCNJ1, CLCNKA
kidney development (GO:0001822) NEW4.790.031SLC12A1, KCNJ1
localization (GO:0051179) -1.40.041SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
regulation of ion transport (GO:0043269) -3.40.0CLCNKB, BSND, SLC12A1, KCNJ1, CLCNKA
inorganic anion transmembrane transport (GO:0098661) -5.040.0SLC12A1, BSND, CLCNKB, CLCNKA
inorganic ion transmembrane transport (GO:0098660) -3.380.0SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
inorganic anion transport (GO:0015698) -4.770.0SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
excretion (GO:0007588) -6.040.0CLCNKB, BSND, SLC12A1, KCNJ1, CLCNKA
chloride transmembrane transport (GO:1902476) -5.220.0SLC12A1, BSND, CLCNKB, CLCNKA
ion transport (GO:0006811) -2.660.0CLCNKB, BSND, SLC12A1, KCNJ1, CLCNKA
transport (GO:0006810) -1.510.024CLCNKB, BSND, SLC12A1, KCNJ1, CLCNKA
sodium ion transport (GO:0006814) NEW4.750.047SLC12A1, KCNJ1
ion transmembrane transport (GO:0034220) -3.080.0CLCNKB, BSND, SLC12A1, KCNJ1, CLCNKA
single-organism transport (GO:0044765) NEW2.180.007CLCNKB, BSND, SLC12A1, KCNJ1, CLCNKA
establishment of localization (GO:0051234) -1.480.027CLCNKB, BSND, SLC12A1, KCNJ1, CLCNKA
transmembrane transport (GO:0055085) -2.720.004SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
system process (GO:0003008) -2.30.005SLC12A1, CLCNKB, KCNJ1, CLCNKA
anion transmembrane transport (GO:0098656) -4.510.0SLC12A1, CLCNKB, BSND, CLCNKA
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
integral component of membrane (GO:0016021) 1.145SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
membrane (GO:0016020) 0.685SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
cell part (GO:0044464) 0.115SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
plasma membrane (GO:0005886) 1.395SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
membrane part (GO:0044425) 0.955CLCNKB, BSND, SLC12A1, KCNJ1, CLCNKA
plasma membrane part (GO:0044459) 1.955SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
intrinsic component of membrane (GO:0031224) 1.135SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
protein complex (GO:0043234) 1.514BSND, CLCNKB, KCNJ1, CLCNKA
macromolecular complex (GO:0032991) 1.354BSND, CLCNKB, KCNJ1, CLCNKA
transmembrane transporter complex (GO:1902495) 4.063CLCNKB, KCNJ1, CLCNKA
transporter complex (GO:1990351) 4.043CLCNKB, KCNJ1, CLCNKA
membrane protein complex (GO:0098796) 2.843CLCNKB, KCNJ1, CLCNKA
ion channel complex (GO:0034702) 4.183CLCNKB, KCNJ1, CLCNKA
integral component of plasma membrane (GO:0005887) 2.573BSND, CLCNKB, CLCNKA
intrinsic component of plasma membrane (GO:0031226) 2.533BSND, CLCNKB, CLCNKA
plasma membrane region (GO:0098590) 2.972BSND, SLC12A1
chloride channel complex (GO:0034707) 5.892CLCNKB, CLCNKA

NET-GE enrichment

Term New enriched termICP valueGenes
transmembrane transporter complex (GO:1902495) -4.060.0BSND, CLCNKB, KCNJ1, CLCNKA
transporter complex (GO:1990351) -4.040.001BSND, CLCNKB, KCNJ1, CLCNKA
chloride channel complex (GO:0034707) -5.890.0BSND, CLCNKB, CLCNKA
ion channel complex (GO:0034702) -4.180.001BSND, CLCNKB, KCNJ1, CLCNKA
plasma membrane (GO:0005886) -1.390.011SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
plasma membrane part (GO:0044459) -1.950.001SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA