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Bartter disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Bartter disease
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Accession:DOID:445 term browser browse the term
Definition:A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
Synonyms:exact_synonym: Bartter syndrome;   Bartter's Disease;   Bartter's syndrome;   Bartters Disease;   Bartters syndrome;   aldosteronism with hyperplasia of the adrenal cortex;   juxtaglomerular hyperplasia with secondary aldosteronism
 narrow_synonym: ANTENATAL BARTTER SYNDROME
 primary_id: MESH:D001477
 xref: GARD:5893;   ICD10CM:E26.81;   ICD9CM:255.13;   MIM:PS601678;   NCI:C34412
For additional species annotation, visit the Alliance of Genome Resources.

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
Bartter disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Bartter syndrome | ClinVar Annotator: match by term: Bartter's syndrome ClinVar PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chrNW_004624862:4,917,196...4,927,139
Ensembl chrNW_004624862:4,917,198...4,927,137 		JBrowse link
G G BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Bartter syndrome | ClinVar Annotator: match by term: Bartter's syndrome ClinVar PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chr20:77,943,853...77,960,883
Ensembl chr20:77,940,881...77,955,094 		JBrowse link
G P BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Bartter syndrome | ClinVar Annotator: match by term: Bartter's syndrome ClinVar PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chr 6:157,424,389...157,432,571
Ensembl chr 6:157,425,878...157,432,580 		JBrowse link
G S Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Bartter syndrome | ClinVar Annotator: match by term: Bartter's syndrome ClinVar PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chrNW_004936522:6,329,981...6,338,825
Ensembl chrNW_004936522:6,327,594...6,338,823 		JBrowse link
G D BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Bartter syndrome | ClinVar Annotator: match by term: Bartter's syndrome ClinVar PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chr 5:54,225,393...54,239,305
Ensembl chr 5:54,225,389...54,237,110 		JBrowse link
G B BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Bartter syndrome | ClinVar Annotator: match by term: Bartter's syndrome ClinVar PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chr 1:54,281,736...54,292,159
Ensembl chr 1:55,869,495...55,879,674 		JBrowse link
G C Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Bartter syndrome | ClinVar Annotator: match by term: Bartter's syndrome ClinVar PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chrNW_004955464:4,459,686...4,468,749
Ensembl chrNW_004955464:4,459,628...4,468,927 		JBrowse link
G R Bsnd barttin CLCNK type accessory subunit beta ISO Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon
ClinVar Annotator: match by term: Bartter syndrome | ClinVar Annotator: match by term: Bartter's syndrome		 ClinVar
RGD		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... RGD:1600603 NCBI chr 5:126,480,590...126,489,389
Ensembl chr 5:121,251,774...121,260,571 		JBrowse link
G M Bsnd barttin CLCNK type accessory beta subunit ISO Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon
ClinVar Annotator: match by term: Bartter syndrome | ClinVar Annotator: match by term: Bartter's syndrome		 ClinVar
RGD		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... RGD:1600603 NCBI chr 4:106,340,653...106,349,440
Ensembl chr 4:106,340,653...106,349,480 		JBrowse link
G H BSND barttin CLCNK type accessory subunit beta IAGP Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon
ClinVar Annotator: match by term: Bartter syndrome
ClinVar Annotator: match by term: Bartter's syndrome		 ClinVar
RGD		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... RGD:1600603 NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172 		JBrowse link
G D CLCNK chloride voltage-gated channel K ISO ClinVar Annotator: match by term: Bartter syndrome ClinVar PMID:9326936 PMID:10831588 PMID:10906158 PMID:11734858 PMID:12472765 More... NCBI chr 2:81,612,382...81,627,742 JBrowse link
G B CLCNKB chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Bartter syndrome ClinVar PMID:9326936 PMID:10831588 PMID:10906158 PMID:11734858 PMID:12472765 More... NCBI chr 1:15,180,858...15,194,757
Ensembl chr 1:16,174,570...16,188,166 		JBrowse link
G R Clcnkb chloride voltage-gated channel Kb ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartter syndrome		 CTD
ClinVar
MouseDO		 PMID:9326936 PMID:10561751 PMID:10831588 PMID:10906158 PMID:11734858 More... NCBI chr 5:158,993,073...159,005,618
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
G M Clcnkb chloride channel, voltage-sensitive Kb ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartter syndrome		 CTD
ClinVar
MouseDO		 PMID:9326936 PMID:10561751 PMID:10831588 PMID:10906158 PMID:11734858 More... NCBI chr 4:141,131,668...141,143,440
Ensembl chr 4:141,131,664...141,143,325 		JBrowse link
G H CLCNKB chloride voltage-gated channel Kb EXP
IAGP
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartter syndrome		 CTD
ClinVar
MouseDO		 PMID:9326936 PMID:10561751 PMID:10831588 PMID:10906158 PMID:11734858 More... NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G N Kcnj1 potassium inwardly rectifying channel subfamily J member 1 ISO ClinVar Annotator: match by term: Antenatal Bartter syndrome | ClinVar Annotator: match by term: Bartter syndrome ClinVar PMID:9002665 PMID:9015377 PMID:9502574 PMID:9587066 PMID:10611379 More... NCBI chrNW_004624812:3,160,684...3,192,323
Ensembl chrNW_004624812:3,160,693...3,193,595 		JBrowse link
G G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 ISO ClinVar Annotator: match by term: Antenatal Bartter syndrome | ClinVar Annotator: match by term: Bartter syndrome ClinVar PMID:9002665 PMID:9015377 PMID:9502574 PMID:9587066 PMID:10611379 More... NCBI chr 1:119,971,282...120,040,752
Ensembl chr 1:119,969,370...119,986,411 		JBrowse link
G P KCNJ1 potassium inwardly rectifying channel subfamily J member 1 ISO ClinVar Annotator: match by term: Antenatal Bartter syndrome | ClinVar Annotator: match by term: Bartter syndrome ClinVar PMID:9002665 PMID:9015377 PMID:9502574 PMID:9587066 PMID:10611379 More... NCBI chr 9:55,779,020...55,812,761
Ensembl chr 9:55,780,257...55,781,375 		JBrowse link
G S Kcnj1 potassium inwardly rectifying channel subfamily J member 1 ISO ClinVar Annotator: match by term: Antenatal Bartter syndrome | ClinVar Annotator: match by term: Bartter syndrome ClinVar PMID:9002665 PMID:9015377 PMID:9502574 PMID:9587066 PMID:10611379 More... NCBI chrNW_004936572:3,396,329...3,425,848
Ensembl chrNW_004936572:3,421,557...3,425,276 		JBrowse link
G D KCNJ1 potassium inwardly rectifying channel subfamily J member 1 ISO ClinVar Annotator: match by term: Antenatal Bartter syndrome | ClinVar Annotator: match by term: Bartter syndrome ClinVar PMID:9002665 PMID:9015377 PMID:9502574 PMID:9587066 PMID:10611379 More... NCBI chr 5:5,783,242...5,813,961
Ensembl chr 5:5,809,118...5,812,794 		JBrowse link
G B KCNJ1 potassium inwardly rectifying channel subfamily J member 1 ISO ClinVar Annotator: match by term: Antenatal Bartter syndrome | ClinVar Annotator: match by term: Bartter syndrome ClinVar PMID:9002665 PMID:9015377 PMID:9502574 PMID:9587066 PMID:10611379 More... NCBI chr11:123,649,466...123,680,149
Ensembl chr11:127,553,327...127,557,860 		JBrowse link
G C Kcnj1 potassium inwardly rectifying channel subfamily J member 1 ISO ClinVar Annotator: match by term: Antenatal Bartter syndrome | ClinVar Annotator: match by term: Bartter syndrome ClinVar PMID:9002665 PMID:9015377 PMID:9502574 PMID:9587066 PMID:10611379 More... NCBI chrNW_004955412:29,801,022...29,832,153
Ensembl chrNW_004955412:29,801,022...29,829,674 		JBrowse link
G R Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Antenatal Bartter syndrome | ClinVar Annotator: match by term: Bartter syndrome		 CTD
ClinVar		 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9587066 PMID:10561751 More... NCBI chr 8:39,014,822...39,066,716
Ensembl chr 8:30,753,617...30,813,796 		JBrowse link
G M Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Antenatal Bartter syndrome | ClinVar Annotator: match by term: Bartter syndrome		 CTD
ClinVar		 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9587066 PMID:10561751 More... NCBI chr 9:32,283,714...32,310,493
Ensembl chr 9:32,283,789...32,310,493 		JBrowse link
G H KCNJ1 potassium inwardly rectifying channel subfamily J member 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartter syndrome
ClinVar Annotator: match by term: Antenatal Bartter syndrome
ClinVar Annotator: match by term: Antenatal Bartter syndrome | ClinVar Annotator: match by term: Bartter syndrome		 CTD
ClinVar		 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9587066 PMID:10561751 More... NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373 		JBrowse link
G G LOC103225532 chloride channel protein ClC-Kb ISO ClinVar Annotator: match by term: Bartter syndrome ClinVar PMID:9326936 PMID:10831588 PMID:10906158 PMID:11734858 PMID:12472765 More... NCBI chr20:116,241,589...116,255,452
Ensembl chr20:116,241,569...116,254,280 		JBrowse link
G H LOC106501713 CLCNKB recombination region IAGP ClinVar Annotator: match by term: Bartter syndrome ClinVar PMID:9326936 PMID:10831588 PMID:10906158 PMID:11734858 PMID:12472765 More... NCBI chr 1:16,044,593...16,059,459 JBrowse link
G N Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154 PMID:3519017 PMID:15976003 NCBI chrNW_004624807:6,817,472...6,827,374
Ensembl chrNW_004624807:6,817,195...6,827,462 		JBrowse link
G G REN renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154 PMID:3519017 PMID:15976003 NCBI chr25:25,159,816...25,193,620
Ensembl chr25:25,183,037...25,193,420 		JBrowse link
G P REN renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154 PMID:3519017 PMID:15976003 NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,658 		JBrowse link
G S Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154 PMID:3519017 PMID:15976003 NCBI chrNW_004936567:598,044...607,628
Ensembl chrNW_004936567:598,048...607,497 		JBrowse link
G D REN renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154 PMID:3519017 PMID:15976003 NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012 		JBrowse link
G B REN renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154 PMID:3519017 PMID:15976003 NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393 		JBrowse link
G C Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154 PMID:3519017 PMID:15976003 NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286 		JBrowse link
G R Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154 PMID:3519017 PMID:15976003 NCBI chr13:47,348,312...47,359,539
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G H REN renin EXP CTD Direct Evidence: marker/mechanism CTD PMID:929154 PMID:3519017 PMID:15976003 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324 		JBrowse link
G M Ren1 renin 1 structural ISO CTD Direct Evidence: marker/mechanism CTD PMID:929154 PMID:3519017 PMID:15976003 NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063 		JBrowse link
G N Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter syndrome ClinVar PMID:8640224 PMID:9585600 PMID:16199547 PMID:18391953 PMID:19096086 More... NCBI chrNW_004624731:11,403,936...11,486,244
Ensembl chrNW_004624731:11,403,675...11,484,982 		JBrowse link
G G SLC12A1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter syndrome ClinVar PMID:8640224 PMID:9585600 PMID:16199547 PMID:18391953 PMID:19096086 More... NCBI chr26:34,974,947...35,077,241
Ensembl chr26:34,976,126...35,075,186 		JBrowse link
G P SLC12A1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter syndrome ClinVar PMID:8640224 PMID:9585600 PMID:16199547 PMID:18391953 PMID:19096086 More... NCBI chr 1:123,481,892...123,571,655
Ensembl chr 1:123,481,369...123,571,630 		JBrowse link
G S Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter syndrome ClinVar PMID:8640224 PMID:9585600 PMID:16199547 PMID:18391953 PMID:19096086 More... NCBI chrNW_004936471:10,564,530...10,648,124
Ensembl chrNW_004936471:10,564,535...10,646,977 		JBrowse link
G D SLC12A1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter syndrome ClinVar PMID:8640224 PMID:9585600 PMID:16199547 PMID:18391953 PMID:19096086 More... NCBI chr30:14,458,373...14,548,870
Ensembl chr30:14,459,606...14,547,694 		JBrowse link
G B SLC12A1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter syndrome ClinVar PMID:8640224 PMID:9585600 PMID:16199547 PMID:18391953 PMID:19096086 More... NCBI chr15:27,155,331...27,252,995
Ensembl chr15:45,479,583...45,577,084 		JBrowse link
G C Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter syndrome ClinVar PMID:8640224 PMID:9585600 PMID:16199547 PMID:18391953 PMID:19096086 More... NCBI chrNW_004955409:5,597,033...5,680,009
Ensembl chrNW_004955409:5,597,033...5,680,009 		JBrowse link
G R Slc12a1 solute carrier family 12 member 1 ISO antenatal Bartter syndrome type 1,OMIM:601678;DNA:point mutation:exon:D648N, V272F
ClinVar Annotator: match by term: Bartter syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8640224 PMID:9585600 PMID:10561751 PMID:16199547 PMID:18391953 More... RGD:1624188 NCBI chr 3:132,859,581...132,936,354
Ensembl chr 3:112,406,140...112,482,899 		JBrowse link
G M Slc12a1 solute carrier family 12, member 1 ISO antenatal Bartter syndrome type 1,OMIM:601678;DNA:point mutation:exon:D648N, V272F
ClinVar Annotator: match by term: Bartter syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8640224 PMID:9585600 PMID:10561751 PMID:16199547 PMID:18391953 More... RGD:1624188 NCBI chr 2:124,994,430...125,071,922
Ensembl chr 2:124,994,425...125,071,922 		JBrowse link
G H SLC12A1 solute carrier family 12 member 1 IAGP
EXP		 antenatal Bartter syndrome type 1,OMIM:601678;DNA:point mutation:exon:D648N, V272F
ClinVar Annotator: match by term: Bartter syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8640224 PMID:9585600 PMID:10561751 PMID:16199547 PMID:18391953 More... RGD:1624188 NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078 		JBrowse link
G N Slc12a3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Bartter's syndrome ClinVar PMID:8528245 PMID:8812482 PMID:8900229 PMID:9596079 PMID:9734597 More... NCBI chrNW_004624746:29,087,867...29,132,793
Ensembl chrNW_004624746:29,098,254...29,132,752 		JBrowse link
G G SLC12A3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Bartter's syndrome ClinVar PMID:8528245 PMID:8812482 PMID:8900229 PMID:9596079 PMID:9734597 More... NCBI chr 5:42,808,773...42,877,714
Ensembl chr 5:42,811,597...42,862,002 		JBrowse link
G P SLC12A3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Bartter's syndrome ClinVar PMID:8528245 PMID:8812482 PMID:8900229 PMID:9596079 PMID:9734597 More... NCBI chr 6:18,844,752...18,885,497
Ensembl chr 6:18,844,600...18,885,476 		JBrowse link
G S Slc12a3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Bartter's syndrome ClinVar PMID:8528245 PMID:8812482 PMID:8900229 PMID:9596079 PMID:9734597 More... NCBI chrNW_004936475:9,044,099...9,076,301
Ensembl chrNW_004936475:9,044,106...9,076,307 		JBrowse link
G D SLC12A3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Bartter's syndrome ClinVar PMID:8528245 PMID:8812482 PMID:8900229 PMID:9596079 PMID:9734597 More... NCBI chr 2:59,413,737...59,449,129
Ensembl chr 2:59,413,828...59,449,081 		JBrowse link
G B SLC12A3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Bartter's syndrome ClinVar PMID:8528245 PMID:8812482 PMID:8900229 PMID:9596079 PMID:9734597 More... NCBI chr16:37,142,797...37,193,713
Ensembl chr16:56,276,049...56,324,528 		JBrowse link
G C Slc12a3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Bartter's syndrome ClinVar PMID:8528245 PMID:8812482 PMID:8900229 PMID:9596079 PMID:9734597 More... NCBI chrNW_004955433:14,553,752...14,588,317
Ensembl chrNW_004955433:14,553,758...14,587,602 		JBrowse link
G R Slc12a3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Bartter's syndrome ClinVar PMID:8528245 PMID:8812482 PMID:8900229 PMID:9596079 PMID:9734597 More... NCBI chr19:10,636,594...10,690,008
Ensembl chr19:10,631,393...10,669,091 		JBrowse link
G M Slc12a3 solute carrier family 12, member 3 ISO ClinVar Annotator: match by term: Bartter's syndrome ClinVar PMID:8528245 PMID:8812482 PMID:8900229 PMID:9596079 PMID:9734597 More... NCBI chr 8:95,055,737...95,092,850
Ensembl chr 8:95,055,829...95,092,842 		JBrowse link
G H SLC12A3 solute carrier family 12 member 3 IAGP ClinVar Annotator: match by term: Bartter's syndrome ClinVar PMID:8528245 PMID:8812482 PMID:8900229 PMID:9596079 PMID:9734597 More... NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome ClinVar PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More... NCBI chrNW_004624912:485,252...613,572
Ensembl chrNW_004624912:485,258...614,656 		JBrowse link
G G CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome ClinVar PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More... NCBI chr22:58,579,640...58,612,142
Ensembl chr22:58,578,396...58,604,756 		JBrowse link
G P CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome ClinVar PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More... NCBI chr13:138,279,785...138,364,934
Ensembl chr13:138,280,364...138,364,252 		JBrowse link
G S Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome ClinVar PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More... NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454 		JBrowse link
G D CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome ClinVar PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More... NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559 		JBrowse link
G B CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome ClinVar PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More... NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268 		JBrowse link
G C Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome ClinVar PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More... NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210 		JBrowse link
G R Casr calcium-sensing receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome		 CTD
ClinVar		 PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More... NCBI chr11:77,738,398...77,813,639
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
G M Casr calcium-sensing receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome		 CTD
ClinVar		 PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More... NCBI chr16:36,310,947...36,382,605
Ensembl chr16:36,314,058...36,382,503 		JBrowse link
G H CASR calcium sensing receptor IAGP
EXP		 ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More... NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
Bartter disease type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal ClinVar PMID:25326637 PMID:28492532 NCBI chrNW_004624774:12,863,446...13,116,929
Ensembl chrNW_004624774:12,863,446...13,116,545 		JBrowse link
G G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal ClinVar PMID:25326637 PMID:28492532 NCBI chr23:31,204,652...31,476,677
Ensembl chr23:31,204,391...31,475,820 		JBrowse link
G P FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal ClinVar PMID:25326637 PMID:28492532 NCBI chr 2:131,150,665...131,370,241
Ensembl chr 2:131,150,667...131,370,466 		JBrowse link
G S Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal ClinVar PMID:25326637 PMID:28492532 NCBI chrNW_004936504:1,535,629...1,757,386
Ensembl chrNW_004936504:1,535,624...1,757,435 		JBrowse link
G D FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal ClinVar PMID:25326637 PMID:28492532 NCBI chr11:17,311,238...17,551,536
Ensembl chr11:17,311,226...17,551,536 		JBrowse link
G B FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal ClinVar PMID:25326637 PMID:28492532 NCBI chr 5:123,673,209...123,953,741
Ensembl chr 5:129,435,248...129,715,711 		JBrowse link
G C Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal ClinVar PMID:25326637 PMID:28492532 NCBI chrNW_004955415:1,307,553...1,535,435
Ensembl chrNW_004955415:1,309,077...1,537,052 		JBrowse link
G R Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal ClinVar PMID:25326637 PMID:28492532 NCBI chr18:53,696,197...53,901,992
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G M Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal ClinVar PMID:25326637 PMID:28492532 NCBI chr18:58,141,689...58,343,200
Ensembl chr18:58,141,695...58,343,559 		JBrowse link
G H FBN2 fibrillin 2 IAGP ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal ClinVar PMID:25326637 PMID:28492532 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G H LOC126862123 CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48543423-48544622 IAGP ClinVar Annotator: match by term: Bartter disease type 1
ClinVar Annotator: match by term: SLC12A1-related condition		 ClinVar PMID:8640224 PMID:9355073 PMID:9585600 PMID:19096086 PMID:25741868 More... NCBI chr15:48,251,226...48,252,425 JBrowse link
G N Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter disease type 1 | ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal | ClinVar Annotator: match by term: SLC12A1-related condition OMIM
ClinVar		 PMID:8640224 PMID:9355073 PMID:9536098 PMID:9585600 PMID:12761241 More... NCBI chrNW_004624731:11,403,936...11,486,244
Ensembl chrNW_004624731:11,403,675...11,484,982 		JBrowse link
G G SLC12A1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter disease type 1 | ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal | ClinVar Annotator: match by term: SLC12A1-related condition OMIM
ClinVar		 PMID:8640224 PMID:9355073 PMID:9536098 PMID:9585600 PMID:12761241 More... NCBI chr26:34,974,947...35,077,241
Ensembl chr26:34,976,126...35,075,186 		JBrowse link
G P SLC12A1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter disease type 1 | ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal | ClinVar Annotator: match by term: SLC12A1-related condition OMIM
ClinVar		 PMID:8640224 PMID:9355073 PMID:9536098 PMID:9585600 PMID:12761241 More... NCBI chr 1:123,481,892...123,571,655
Ensembl chr 1:123,481,369...123,571,630 		JBrowse link
G S Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter disease type 1 | ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal | ClinVar Annotator: match by term: SLC12A1-related condition OMIM
ClinVar		 PMID:8640224 PMID:9355073 PMID:9536098 PMID:9585600 PMID:12761241 More... NCBI chrNW_004936471:10,564,530...10,648,124
Ensembl chrNW_004936471:10,564,535...10,646,977 		JBrowse link
G D SLC12A1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter disease type 1 | ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal | ClinVar Annotator: match by term: SLC12A1-related condition OMIM
ClinVar		 PMID:8640224 PMID:9355073 PMID:9536098 PMID:9585600 PMID:12761241 More... NCBI chr30:14,458,373...14,548,870
Ensembl chr30:14,459,606...14,547,694 		JBrowse link
G B SLC12A1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter disease type 1 | ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal | ClinVar Annotator: match by term: SLC12A1-related condition OMIM
ClinVar		 PMID:8640224 PMID:9355073 PMID:9536098 PMID:9585600 PMID:12761241 More... NCBI chr15:27,155,331...27,252,995
Ensembl chr15:45,479,583...45,577,084 		JBrowse link
G C Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter disease type 1 | ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal | ClinVar Annotator: match by term: SLC12A1-related condition OMIM
ClinVar		 PMID:8640224 PMID:9355073 PMID:9536098 PMID:9585600 PMID:12761241 More... NCBI chrNW_004955409:5,597,033...5,680,009
Ensembl chrNW_004955409:5,597,033...5,680,009 		JBrowse link
G R Slc12a1 solute carrier family 12 member 1 ISO
ISS		 ClinVar Annotator: match by term: Bartter disease type 1 | ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal | ClinVar Annotator: match by term: SLC12A1-related condition
OMIM:601678
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8640224 PMID:9355073 PMID:9536098 PMID:9585600 PMID:12761241 More... NCBI chr 3:132,859,581...132,936,354
Ensembl chr 3:112,406,140...112,482,899 		JBrowse link
G M Slc12a1 solute carrier family 12, member 1 ISO
IAGP		 ClinVar Annotator: match by term: Bartter disease type 1 | ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal | ClinVar Annotator: match by term: SLC12A1-related condition
CTD Direct Evidence: marker/mechanism
OMIM:601678		 OMIM
ClinVar
CTD
MouseDO		 PMID:8640224 PMID:9355073 PMID:9536098 PMID:9585600 PMID:12761241 More... NCBI chr 2:124,994,430...125,071,922
Ensembl chr 2:124,994,425...125,071,922 		JBrowse link
G H SLC12A1 solute carrier family 12 member 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Bartter disease type 1
ClinVar Annotator: match by term: Bartter disease type 1 | ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal | ClinVar Annotator: match by term: SLC12A1-related condition
ClinVar Annotator: match by term: Bartter disease type 1 | ClinVar Annotator: match by term: SLC12A1-related condition
OMIM:601678
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:8640224 PMID:9355073 PMID:9536098 PMID:9585600 PMID:12761241 More... NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078 		JBrowse link
Bartter disease type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Kcnj1 potassium inwardly rectifying channel subfamily J member 1 ISO ClinVar Annotator: match by term: Bartter disease type 2 | ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal | ClinVar Annotator: match by term: KCNJ1-related condition OMIM
ClinVar		 PMID:8841184 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9580661 More... NCBI chrNW_004624812:3,160,684...3,192,323
Ensembl chrNW_004624812:3,160,693...3,193,595 		JBrowse link
G G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 ISO ClinVar Annotator: match by term: Bartter disease type 2 | ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal | ClinVar Annotator: match by term: KCNJ1-related condition OMIM
ClinVar		 PMID:8841184 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9580661 More... NCBI chr 1:119,971,282...120,040,752
Ensembl chr 1:119,969,370...119,986,411 		JBrowse link
G P KCNJ1 potassium inwardly rectifying channel subfamily J member 1 ISO ClinVar Annotator: match by term: Bartter disease type 2 | ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal | ClinVar Annotator: match by term: KCNJ1-related condition OMIM
ClinVar		 PMID:8841184 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9580661 More... NCBI chr 9:55,779,020...55,812,761
Ensembl chr 9:55,780,257...55,781,375 		JBrowse link
G S Kcnj1 potassium inwardly rectifying channel subfamily J member 1 ISO ClinVar Annotator: match by term: Bartter disease type 2 | ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal | ClinVar Annotator: match by term: KCNJ1-related condition OMIM
ClinVar		 PMID:8841184 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9580661 More... NCBI chrNW_004936572:3,396,329...3,425,848
Ensembl chrNW_004936572:3,421,557...3,425,276 		JBrowse link
G D KCNJ1 potassium inwardly rectifying channel subfamily J member 1 ISO ClinVar Annotator: match by term: Bartter disease type 2 | ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal | ClinVar Annotator: match by term: KCNJ1-related condition OMIM
ClinVar		 PMID:8841184 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9580661 More... NCBI chr 5:5,783,242...5,813,961
Ensembl chr 5:5,809,118...5,812,794 		JBrowse link
G B KCNJ1 potassium inwardly rectifying channel subfamily J member 1 ISO ClinVar Annotator: match by term: Bartter disease type 2 | ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal | ClinVar Annotator: match by term: KCNJ1-related condition OMIM
ClinVar		 PMID:8841184 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9580661 More... NCBI chr11:123,649,466...123,680,149
Ensembl chr11:127,553,327...127,557,860 		JBrowse link
G C Kcnj1 potassium inwardly rectifying channel subfamily J member 1 ISO ClinVar Annotator: match by term: Bartter disease type 2 | ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal | ClinVar Annotator: match by term: KCNJ1-related condition OMIM
ClinVar		 PMID:8841184 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9580661 More... NCBI chrNW_004955412:29,801,022...29,832,153
Ensembl chrNW_004955412:29,801,022...29,829,674 		JBrowse link
G R Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO
ISS		 ClinVar Annotator: match by term: Bartter disease type 2 | ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal | ClinVar Annotator: match by term: KCNJ1-related condition
OMIM:241200
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8841184 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9580661 More... NCBI chr 8:39,014,822...39,066,716
Ensembl chr 8:30,753,617...30,813,796 		JBrowse link
G M Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 ISO
IAGP		 ClinVar Annotator: match by term: Bartter disease type 2 | ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal | ClinVar Annotator: match by term: KCNJ1-related condition
CTD Direct Evidence: marker/mechanism
OMIM:241200		 OMIM
ClinVar
CTD
MouseDO		 PMID:8841184 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9580661 More... NCBI chr 9:32,283,714...32,310,493
Ensembl chr 9:32,283,789...32,310,493 		JBrowse link
G H KCNJ1 potassium inwardly rectifying channel subfamily J member 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Bartter disease type 2
ClinVar Annotator: match by term: Bartter disease type 2 | ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal | ClinVar Annotator: match by term: KCNJ1-related condition
ClinVar Annotator: match by term: Bartter disease type 2 | ClinVar Annotator: match by term: KCNJ1-related condition
OMIM:241200
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:8841184 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9580661 More... NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373 		JBrowse link
Bartter disease type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chrNW_004624912:485,252...613,572
Ensembl chrNW_004624912:485,258...614,656 		JBrowse link
G G CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chr22:58,579,640...58,612,142
Ensembl chr22:58,578,396...58,604,756 		JBrowse link
G P CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chr13:138,279,785...138,364,934
Ensembl chr13:138,280,364...138,364,252 		JBrowse link
G S Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454 		JBrowse link
G D CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559 		JBrowse link
G B CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268 		JBrowse link
G C Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210 		JBrowse link
G R Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chr11:77,738,398...77,813,639
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
G M Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chr16:36,310,947...36,382,605
Ensembl chr16:36,314,058...36,382,503 		JBrowse link
G H CASR calcium sensing receptor IAGP ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:28492532 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G P CLCNK chloride voltage-gated channel K ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 6:75,178,914...75,192,670 JBrowse link
G D CLCNK chloride voltage-gated channel K ISO ClinVar Annotator: match by term: Bartter disease type 3 OMIM
ClinVar		 PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 More... NCBI chr 2:81,612,382...81,627,742 JBrowse link
G N Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chrNW_004624764:2,202,438...2,212,185
Ensembl chrNW_004624764:2,202,579...2,212,337 		JBrowse link
G S Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chrNW_004936474:3,591,134...3,601,562 JBrowse link
G R Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 5:158,974,190...158,989,275
Ensembl chr 5:153,691,209...153,706,148 		JBrowse link
G M Clcnka chloride channel, voltage-sensitive Ka ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 4:141,111,922...141,126,017
Ensembl chr 4:141,111,921...141,126,035 		JBrowse link
G H CLCNKA chloride voltage-gated channel Ka IAGP ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050 		JBrowse link
G B CLCNKB chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Bartter disease type 3 OMIM
ClinVar		 PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 More... NCBI chr 1:15,180,858...15,194,757
Ensembl chr 1:16,174,570...16,188,166 		JBrowse link
G R Clcnkb chloride voltage-gated channel Kb ISO
ISS		 ClinVar Annotator: match by term: Bartter disease type 3
OMIM:607364
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 More... NCBI chr 5:158,993,073...159,005,618
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
G M Clcnkb chloride channel, voltage-sensitive Kb ISO
IAGP		 ClinVar Annotator: match by term: Bartter disease type 3
CTD Direct Evidence: marker/mechanism
OMIM:607364		 OMIM
ClinVar
CTD
MouseDO		 PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 More... NCBI chr 4:141,131,668...141,143,440
Ensembl chr 4:141,131,664...141,143,325 		JBrowse link
G H CLCNKB chloride voltage-gated channel Kb IAGP
ISS
EXP		 ClinVar Annotator: match by term: Bartter disease type 3
OMIM:607364
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 More... NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G B LOC100986591 chloride channel protein ClC-Ka ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 1:15,159,362...15,171,376
Ensembl chr 1:16,152,022...16,163,777 		JBrowse link
G G LOC103225532 chloride channel protein ClC-Kb ISO ClinVar Annotator: match by term: Bartter disease type 3 OMIM
ClinVar		 PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 More... NCBI chr20:116,241,589...116,255,452
Ensembl chr20:116,241,569...116,254,280 		JBrowse link
G H LOC106501713 CLCNKB recombination region IAGP ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 More... NCBI chr 1:16,044,593...16,059,459 JBrowse link
G N Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chrNW_004624731:11,403,936...11,486,244
Ensembl chrNW_004624731:11,403,675...11,484,982 		JBrowse link
G G SLC12A1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr26:34,974,947...35,077,241
Ensembl chr26:34,976,126...35,075,186 		JBrowse link
G P SLC12A1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 1:123,481,892...123,571,655
Ensembl chr 1:123,481,369...123,571,630 		JBrowse link
G S Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chrNW_004936471:10,564,530...10,648,124
Ensembl chrNW_004936471:10,564,535...10,646,977 		JBrowse link
G D SLC12A1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr30:14,458,373...14,548,870
Ensembl chr30:14,459,606...14,547,694 		JBrowse link
G B SLC12A1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr15:27,155,331...27,252,995
Ensembl chr15:45,479,583...45,577,084 		JBrowse link
G C Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chrNW_004955409:5,597,033...5,680,009
Ensembl chrNW_004955409:5,597,033...5,680,009 		JBrowse link
G R Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 3:132,859,581...132,936,354
Ensembl chr 3:112,406,140...112,482,899 		JBrowse link
G M Slc12a1 solute carrier family 12, member 1 ISO ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr 2:124,994,430...125,071,922
Ensembl chr 2:124,994,425...125,071,922 		JBrowse link
G H SLC12A1 solute carrier family 12 member 1 IAGP ClinVar Annotator: match by term: Bartter disease type 3 ClinVar PMID:25741868 NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078 		JBrowse link
Bartter disease type 4A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: BSND-related condition | ClinVar Annotator: match by term: Bartter disease type 4A OMIM
ClinVar		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chrNW_004624862:4,917,196...4,927,139
Ensembl chrNW_004624862:4,917,198...4,927,137 		JBrowse link
G G BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: BSND-related condition | ClinVar Annotator: match by term: Bartter disease type 4A OMIM
ClinVar		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chr20:77,943,853...77,960,883
Ensembl chr20:77,940,881...77,955,094 		JBrowse link
G P BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: BSND-related condition | ClinVar Annotator: match by term: Bartter disease type 4A OMIM
ClinVar		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chr 6:157,424,389...157,432,571
Ensembl chr 6:157,425,878...157,432,580 		JBrowse link
G S Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: BSND-related condition | ClinVar Annotator: match by term: Bartter disease type 4A OMIM
ClinVar		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chrNW_004936522:6,329,981...6,338,825
Ensembl chrNW_004936522:6,327,594...6,338,823 		JBrowse link
G D BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: BSND-related condition | ClinVar Annotator: match by term: Bartter disease type 4A OMIM
ClinVar		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chr 5:54,225,393...54,239,305
Ensembl chr 5:54,225,389...54,237,110 		JBrowse link
G B BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: BSND-related condition | ClinVar Annotator: match by term: Bartter disease type 4A OMIM
ClinVar		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chr 1:54,281,736...54,292,159
Ensembl chr 1:55,869,495...55,879,674 		JBrowse link
G C Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: BSND-related condition | ClinVar Annotator: match by term: Bartter disease type 4A OMIM
ClinVar		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chrNW_004955464:4,459,686...4,468,749
Ensembl chrNW_004955464:4,459,628...4,468,927 		JBrowse link
G R Bsnd barttin CLCNK type accessory subunit beta ISO
ISS		 ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: BSND-related condition | ClinVar Annotator: match by term: Bartter disease type 4A
OMIM:602522
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chr 5:126,480,590...126,489,389
Ensembl chr 5:121,251,774...121,260,571 		JBrowse link
G M Bsnd barttin CLCNK type accessory beta subunit ISO
IAGP		 ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: BSND-related condition | ClinVar Annotator: match by term: Bartter disease type 4A
CTD Direct Evidence: marker/mechanism
OMIM:602522		 OMIM
ClinVar
CTD
MouseDO		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chr 4:106,340,653...106,349,440
Ensembl chr 4:106,340,653...106,349,480 		JBrowse link
G H BSND barttin CLCNK type accessory subunit beta IAGP
ISS
EXP		 ClinVar Annotator: match by term: Bartter disease type 4A
ClinVar Annotator: match by term: BSND-related condition | ClinVar Annotator: match by term: Bartter disease type 4A
OMIM:602522
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS		 OMIM
ClinVar
MouseDO
CTD		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172 		JBrowse link
G H LOC129930596 ATAC-STARR-seq lymphoblastoid active region 1070 IAGP ClinVar Annotator: match by term: Bartter disease type 4A ClinVar PMID:25741868 NCBI chr 1:54,998,926...54,998,975 JBrowse link
Bartter disease type 4b term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P CLCNK chloride voltage-gated channel K ISO ClinVar Annotator: match by term: Bartter disease type 4B OMIM
ClinVar		 PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:75,178,914...75,192,670 JBrowse link
G D CLCNK chloride voltage-gated channel K ISO ClinVar Annotator: match by term: Bartter disease type 4B OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:81,612,382...81,627,742 JBrowse link
G N Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Bartter disease type 4B OMIM
ClinVar		 PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624764:2,202,438...2,212,185
Ensembl chrNW_004624764:2,202,579...2,212,337 		JBrowse link
G S Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Bartter disease type 4B OMIM
ClinVar		 PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936474:3,591,134...3,601,562 JBrowse link
G R Clcnka chloride voltage-gated channel Ka ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartter disease type 4B		 OMIM
CTD
ClinVar		 PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:158,974,190...158,989,275
Ensembl chr 5:153,691,209...153,706,148 		JBrowse link
G M Clcnka chloride channel, voltage-sensitive Ka ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartter disease type 4B		 OMIM
CTD
ClinVar		 PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:141,111,922...141,126,017
Ensembl chr 4:141,111,921...141,126,035 		JBrowse link
G H CLCNKA chloride voltage-gated channel Ka IAGP
EXP		 ClinVar Annotator: match by term: Bartter disease type 4B
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050 		JBrowse link
G B CLCNKB chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Bartter disease type 4B OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:15,180,858...15,194,757
Ensembl chr 1:16,174,570...16,188,166 		JBrowse link
G R Clcnkb chloride voltage-gated channel Kb ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartter disease type 4B		 OMIM
CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:158,993,073...159,005,618
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
G M Clcnkb chloride channel, voltage-sensitive Kb ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartter disease type 4B		 OMIM
CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:141,131,668...141,143,440
Ensembl chr 4:141,131,664...141,143,325 		JBrowse link
G H CLCNKB chloride voltage-gated channel Kb IAGP
EXP		 ClinVar Annotator: match by term: Bartter disease type 4B
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G B LOC100986591 chloride channel protein ClC-Ka ISO ClinVar Annotator: match by term: Bartter disease type 4B OMIM
ClinVar		 PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:15,159,362...15,171,376
Ensembl chr 1:16,152,022...16,163,777 		JBrowse link
G G LOC103225532 chloride channel protein ClC-Kb ISO ClinVar Annotator: match by term: Bartter disease type 4B OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:116,241,589...116,255,452
Ensembl chr20:116,241,569...116,254,280 		JBrowse link
G H LOC106501712 CLCNKA recombination region IAGP ClinVar Annotator: match by term: Bartter disease type 4B ClinVar PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:16,023,929...16,036,205 JBrowse link
G H LOC106501713 CLCNKB recombination region IAGP ClinVar Annotator: match by term: Bartter disease type 4B ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:16,044,593...16,059,459 JBrowse link
Bartter disease type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Bartter disease type 5 | ClinVar Annotator: match by term: MAGED2-related condition OMIM
ClinVar		 PMID:25741868 PMID:27120771 PMID:28492532 PMID:29146702 PMID:29758562 NCBI chrNW_004624910:37,155...47,711 JBrowse link
G G MAGED2 MAGE family member D2 ISO ClinVar Annotator: match by term: Bartter disease type 5 | ClinVar Annotator: match by term: MAGED2-related condition OMIM
ClinVar		 PMID:25741868 PMID:27120771 PMID:28492532 PMID:29146702 PMID:29758562 NCBI chr  X:50,898,166...50,906,667
Ensembl chr  X:50,898,324...50,906,260 		JBrowse link
G S Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Bartter disease type 5 | ClinVar Annotator: match by term: MAGED2-related condition OMIM
ClinVar		 PMID:25741868 PMID:27120771 PMID:28492532 PMID:29146702 PMID:29758562 NCBI chrNW_004936751:1,639,276...1,647,494
Ensembl chrNW_004936751:1,639,276...1,647,180 		JBrowse link
G D MAGED2 MAGE family member D2 ISO ClinVar Annotator: match by term: Bartter disease type 5 | ClinVar Annotator: match by term: MAGED2-related condition OMIM
ClinVar		 PMID:25741868 PMID:27120771 PMID:28492532 PMID:29146702 PMID:29758562 NCBI chr  X:46,502,459...46,510,990
Ensembl chr  X:46,502,381...46,509,436 		JBrowse link
G B MAGED2 MAGE family member D2 ISO ClinVar Annotator: match by term: Bartter disease type 5 | ClinVar Annotator: match by term: MAGED2-related condition OMIM
ClinVar		 PMID:25741868 PMID:27120771 PMID:28492532 PMID:29146702 PMID:29758562 NCBI chr  X:47,010,009...47,018,370
Ensembl chr  X:55,241,161...55,249,256 		JBrowse link
G C Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Bartter disease type 5 | ClinVar Annotator: match by term: MAGED2-related condition OMIM
ClinVar		 PMID:25741868 PMID:27120771 PMID:28492532 PMID:29146702 PMID:29758562 NCBI chrNW_004955475:2,038,189...2,046,240
Ensembl chrNW_004955475:2,038,189...2,046,290 		JBrowse link
G R Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Bartter disease type 5 | ClinVar Annotator: match by term: MAGED2-related condition OMIM
ClinVar		 PMID:25741868 PMID:27120771 PMID:28492532 PMID:29146702 PMID:29758562 NCBI chr  X:23,160,928...23,364,994
Ensembl chr  X:19,733,597...19,740,477 		JBrowse link
G M Maged2 MAGE family member D2 ISO ClinVar Annotator: match by term: Bartter disease type 5 | ClinVar Annotator: match by term: MAGED2-related condition OMIM
ClinVar		 PMID:25741868 PMID:27120771 PMID:28492532 PMID:29146702 PMID:29758562 NCBI chr  X:149,589,417...149,597,358
Ensembl chr  X:149,589,366...149,597,341 		JBrowse link
G H MAGED2 MAGE family member D2 IAGP ClinVar Annotator: match by term: Bartter disease type 5 | ClinVar Annotator: match by term: MAGED2-related condition OMIM
ClinVar		 PMID:25741868 PMID:27120771 PMID:28492532 PMID:29146702 PMID:29758562 NCBI chr  X:54,807,745...54,816,015
Ensembl chr  X:54,807,599...54,816,015 		JBrowse link
Bartter Syndrome Type 3, with Hypocalciuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D CLCNK chloride voltage-gated channel K ISO ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:17622951 PMID:24830959 PMID:24965226 More... NCBI chr 2:81,612,382...81,627,742 JBrowse link
G B CLCNKB chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:17622951 PMID:24830959 PMID:24965226 More... NCBI chr 1:15,180,858...15,194,757
Ensembl chr 1:16,174,570...16,188,166 		JBrowse link
G R Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:17622951 PMID:24830959 PMID:24965226 More... NCBI chr 5:158,993,073...159,005,618
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
G M Clcnkb chloride channel, voltage-sensitive Kb ISO ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:17622951 PMID:24830959 PMID:24965226 More... NCBI chr 4:141,131,668...141,143,440
Ensembl chr 4:141,131,664...141,143,325 		JBrowse link
G H CLCNKB chloride voltage-gated channel Kb IAGP ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:17622951 PMID:24830959 PMID:24965226 More... NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G G LOC103225532 chloride channel protein ClC-Kb ISO ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:17622951 PMID:24830959 PMID:24965226 More... NCBI chr20:116,241,589...116,255,452
Ensembl chr20:116,241,569...116,254,280 		JBrowse link
G H LOC106501713 CLCNKB recombination region IAGP ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:17622951 PMID:24830959 PMID:24965226 More... NCBI chr 1:16,044,593...16,059,459 JBrowse link
Sensorineural Deafness with Mild Renal Dysfunction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction ClinVar PMID:11687798 PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624862:4,917,196...4,927,139
Ensembl chrNW_004624862:4,917,198...4,927,137 		JBrowse link
G G BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction ClinVar PMID:11687798 PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 More... NCBI chr20:77,943,853...77,960,883
Ensembl chr20:77,940,881...77,955,094 		JBrowse link
G P BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction ClinVar PMID:11687798 PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 More... NCBI chr 6:157,424,389...157,432,571
Ensembl chr 6:157,425,878...157,432,580 		JBrowse link
G S Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction ClinVar PMID:11687798 PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936522:6,329,981...6,338,825
Ensembl chrNW_004936522:6,327,594...6,338,823 		JBrowse link
G D BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction ClinVar PMID:11687798 PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 More... NCBI chr 5:54,225,393...54,239,305
Ensembl chr 5:54,225,389...54,237,110 		JBrowse link
G B BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction ClinVar PMID:11687798 PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 More... NCBI chr 1:54,281,736...54,292,159
Ensembl chr 1:55,869,495...55,879,674 		JBrowse link
G C Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction ClinVar PMID:11687798 PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955464:4,459,686...4,468,749
Ensembl chrNW_004955464:4,459,628...4,468,927 		JBrowse link
G R Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction ClinVar PMID:11687798 PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 More... NCBI chr 5:126,480,590...126,489,389
Ensembl chr 5:121,251,774...121,260,571 		JBrowse link
G M Bsnd barttin CLCNK type accessory beta subunit ISO ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction ClinVar PMID:11687798 PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 More... NCBI chr 4:106,340,653...106,349,440
Ensembl chr 4:106,340,653...106,349,480 		JBrowse link
G H BSND barttin CLCNK type accessory subunit beta IAGP ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction ClinVar PMID:11687798 PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 More... NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      Bartter disease 96
        Autosomal Dominant Hypocalcemia, with Bartter Syndrome 10
        Bartter disease type 1 21
        Bartter disease type 2 10
        Bartter disease type 3 + 34
        Bartter disease type 4A 11
        Bartter disease type 4b 15
        Bartter disease type 5 9
        Sensorineural Deafness with Mild Renal Dysfunction 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      endocrine system disease 80498
        adrenal gland disease 2772
          adrenal cortex disease 880
            adrenal gland hyperfunction 396
              primary hyperaldosteronism 323
                Bartter disease 96
                  Autosomal Dominant Hypocalcemia, with Bartter Syndrome 10
                  Bartter disease type 1 21
                  Bartter disease type 2 10
                  Bartter disease type 3 + 34
                  Bartter disease type 4A 11
                  Bartter disease type 4b 15
                  Bartter disease type 5 9
                  Sensorineural Deafness with Mild Renal Dysfunction 10
paths to the root