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.
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Atp1a1
ATPase Na+/K+ transporting subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23416519
NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837
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Atp2b3
ATPase plasma membrane Ca2+ transporting 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23416519
NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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Cacna1d
calcium voltage-gated channel subunit alpha1 D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23913001
NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215
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Cacna1h
calcium voltage-gated channel subunit alpha1 H
ISO
ClinVar Annotator: match by term: Hyperaldosteronism | ClinVar Annotator: match by term: Primary aldosteronism
ClinVar
PMID:25741868 PMID:25907736 PMID:28492532
NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376
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Clcn2
chloride voltage-gated channel 2
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:605635 | OMIM:613677
CTD MouseDO
PMID:29403012
NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657
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Crh
corticotropin releasing hormone
ISS
OMIM:605635 | OMIM:613677
MouseDO
NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
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Cybb
cytochrome b-245 beta chain
IEP
Protein:increased expression:heart ventricle
RGD
PMID:16373592
RGD:1599681
NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
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Cyp11b1
cytochrome P450, family 11, subfamily b, polypeptide 1
ISO
DNA:gene fusion:intron:Cyp11b2 (human)
RGD
PMID:1731223
RGD:4891155
NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11085685
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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Cyp11b3
cytochrome P450, family 11, subfamily b, polypeptide 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11085685
NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
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Drd2
dopamine receptor D2
ISS
OMIM:605635 | OMIM:613677
MouseDO
NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: Cushing syndrome | ClinVar Annotator: match by term: Cushing's syndrome
ClinVar
PMID:1517386 PMID:1594625 PMID:1944469 PMID:2109828 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:10571700 PMID:11093740 PMID:11784876 PMID:12727968 PMID:12970262 PMID:12970318 PMID:15126527 PMID:15952988 PMID:16507630 PMID:16543670 PMID:17873334 PMID:20197676 PMID:21525160 PMID:21713996 PMID:21835143 PMID:23281139 PMID:23403822 PMID:23536913 PMID:23796510 PMID:23843956 PMID:24855271 PMID:25157968 PMID:25719192 PMID:25741868 PMID:25802881 PMID:26341786 PMID:26574629 PMID:26619011 PMID:27398169 PMID:27506760 PMID:28492532 PMID:29059381 PMID:29991465 PMID:30702195 More...
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISS
OMIM:605635 | OMIM:613677
MouseDO
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Ren
renin
ISO
protein:increased activity:blood plasma (human)
RGD
PMID:15080782
RGD:126908012
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Serpina1
serpin family A member 1
IEP
RGD
PMID:15475529
RGD:1643158
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA
ClinVar
PMID:1505964 PMID:8702665 PMID:9876352 PMID:11092390 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:15711092 PMID:18553568 PMID:18796523 PMID:20427508 PMID:21525160 PMID:23281139 PMID:23533243 PMID:23796510 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24728327 PMID:25044890 PMID:25219572 PMID:25741868 PMID:25802881 PMID:26633545 PMID:27703483 PMID:28492532 PMID:29059381 PMID:29072892 PMID:30349702 PMID:30674755 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 More...
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Armc5
armadillo repeat containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:182,820,141...182,826,913
Ensembl chr 1:182,820,141...182,826,907
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Gcgr
glucagon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20529775
NCBI chr10:105,808,474...105,816,641
Ensembl chr10:105,808,473...105,816,640
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA | ClinVar Annotator: match by term: ACTH-independent macronodular adrenal hyperplasia 1 | ClinVar Annotator: match by term: ADRENOCORTICOTROPIC HORMONE-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA | ClinVar Annotator: match by term: CUSHING SYNDROME, ADRENAL, DUE TO AIMAH CTD Direct Evidence: marker/mechanism DNA:missense mutations:exon:p.R201S, p.R201H (human)
OMIM ClinVar CTD RGD
PMID:1505964 PMID:8702665 PMID:9876352 PMID:11092390 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:15711092 PMID:18553568 PMID:18796523 PMID:20427508 PMID:21525160 PMID:23281139 PMID:23533243 PMID:23796510 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24728327 PMID:25044890 PMID:25219572 PMID:25741868 PMID:25802881 PMID:26633545 PMID:27703483 PMID:28492532 PMID:29059381 PMID:29072892 PMID:30349702 PMID:30674755 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 PMID:12727968 More...
RGD:11568052
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Prkaca
protein kinase cAMP-activated catalytic subunit alpha
ISO
ClinVar Annotator: match by term: ACTH-independent adrenal Cushing syndrome, somatic
ClinVar
PMID:24571724 PMID:24700472 PMID:24747643 PMID:24855271
NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430
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Armc5
armadillo repeat containing 5
ISO
ClinVar Annotator: match by term: ACTH-independent macronodular adrenal hyperplasia 2 | ClinVar Annotator: match by term: ARMC5-related condition
OMIM ClinVar
PMID:24283224 PMID:24601692 PMID:24708098 PMID:24905064 PMID:25741868 PMID:26214113 PMID:27094308 PMID:28492532 PMID:32117062 PMID:35368666 PMID:36727580 More...
NCBI chr 1:182,820,141...182,826,913
Ensembl chr 1:182,820,141...182,826,907
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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 PMID:15005845 PMID:17048213 PMID:24297799 PMID:25506941 PMID:25741868 PMID:25967373 PMID:28492532 More...
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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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 PMID:16199547 PMID:16328537 PMID:16572343 PMID:16583241 PMID:16773427 PMID:16935888 PMID:17954364 PMID:18776122 PMID:19025784 PMID:19096086 PMID:19646679 PMID:21269598 PMID:21541222 PMID:21865213 PMID:23967202 PMID:24033266 PMID:24902942 PMID:24949729 PMID:25741868 PMID:26467025 PMID:26537508 PMID:26857709 PMID:28012523 PMID:28492532 PMID:28555110 PMID:29254190 PMID:29986705 PMID:30174009 PMID:30303587 PMID:30733538 PMID:32608139 PMID:33348466 PMID:35628451 PMID:35709690 PMID:11687798 More...
RGD:1600603
NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571
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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 PMID:12472765 PMID:21631963 PMID:23703872 PMID:28381550 PMID:28492532 PMID:31115572 PMID:32857947 More...
NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
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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 PMID:10611379 PMID:10878442 PMID:11318951 PMID:12081585 PMID:12086641 PMID:12911542 PMID:16982955 PMID:18391953 PMID:19096086 PMID:21865213 PMID:22275899 PMID:23782368 PMID:24400161 PMID:24659592 PMID:24696311 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28979772 PMID:29036958 PMID:29942493 PMID:31441846 PMID:31731488 PMID:32251469 PMID:32573669 PMID:32939031 PMID:32997650 PMID:33058840 PMID:34663630 PMID:34751387 PMID:35006361 PMID:35463019 More...
NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796
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Ren
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:929154 PMID:3519017 PMID:15976003
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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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:19096086 PMID:25741868 PMID:28492532 PMID:29398133 PMID:35358470 PMID:36092934 PMID:8640224 More...
RGD:1624188
NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899
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Slc12a3
solute carrier family 12 member 3
ISO
ClinVar Annotator: match by term: Bartter's syndrome
ClinVar
PMID:8528245 PMID:9734597 PMID:10988270 PMID:12039972 PMID:17329572 PMID:18391953 PMID:21415153 PMID:22009145 PMID:23328711 PMID:25741868 PMID:26467025 PMID:26921350 PMID:28492532 More...
NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091
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Slc12a1
solute carrier family 12 member 1
ISO ISS
ClinVar Annotator: match by term: Bartter disease type 1 | 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 PMID:15167446 PMID:16199547 PMID:17576681 PMID:17699451 PMID:18391953 PMID:19096086 PMID:19513753 PMID:19602640 PMID:20219833 PMID:21157372 PMID:21209010 PMID:23897314 PMID:24033266 PMID:24253496 PMID:24550759 PMID:25326637 PMID:25422309 PMID:25741868 PMID:26467025 PMID:26963954 PMID:28000888 PMID:28095294 PMID:28492532 PMID:28893421 PMID:29398133 PMID:29527380 PMID:29942493 PMID:30076350 PMID:30113482 PMID:31625567 PMID:32997713 PMID:33532864 PMID:33973684 PMID:35348259 PMID:35628451 PMID:36058813 PMID:36092934 More...
NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899
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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 OMIM:241200 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:8841184 PMID:9002665 PMID:9015377 PMID:9502574 PMID:9580661 PMID:9727001 PMID:10049979 PMID:10611379 PMID:10878442 PMID:11318951 PMID:12086641 PMID:12589089 PMID:12911542 PMID:18391953 PMID:19096086 PMID:19221509 PMID:19602640 PMID:20219833 PMID:20699659 PMID:20926634 PMID:22245519 PMID:22441188 PMID:24400161 PMID:24659592 PMID:24696311 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28630040 PMID:29942493 PMID:31441846 PMID:31731488 PMID:32251469 PMID:32573669 PMID:32590952 PMID:32939031 PMID:32997650 PMID:33058840 PMID:34345425 PMID:34663630 PMID:34751387 PMID:35006361 More...
NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796
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Casr
calcium-sensing receptor
ISO
ClinVar Annotator: match by term: Bartter disease type 3
ClinVar
PMID:28492532
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Clcnka
chloride voltage-gated channel Ka
ISO
ClinVar Annotator: match by term: Bartter disease type 3
ClinVar
PMID:25741868
NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148
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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 PMID:15531551 PMID:15875219 PMID:16902263 PMID:17185149 PMID:17622951 PMID:20810575 PMID:21415153 PMID:21631963 PMID:21865213 PMID:23703872 PMID:23991001 PMID:24033266 PMID:24058621 PMID:24271511 PMID:24830959 PMID:24965226 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25810436 PMID:26467025 PMID:26920127 PMID:28288174 PMID:28381550 PMID:28492532 PMID:28555925 PMID:29254190 PMID:30773290 PMID:31115572 PMID:31672324 PMID:31690835 PMID:31803959 PMID:31834604 PMID:32576985 PMID:32857947 PMID:33532864 More...
NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
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Slc12a1
solute carrier family 12 member 1
ISO
ClinVar Annotator: match by term: Bartter disease type 3
ClinVar
PMID:25741868
NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899
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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: 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 PMID:16199547 PMID:16328537 PMID:16572343 PMID:16583241 PMID:16773427 PMID:16935888 PMID:17954364 PMID:18776122 PMID:19025784 PMID:19096086 PMID:19646679 PMID:21269598 PMID:21541222 PMID:21865213 PMID:23967202 PMID:24033266 PMID:24828792 PMID:24902942 PMID:24949729 PMID:25741868 PMID:26467025 PMID:26537508 PMID:26857709 PMID:28012523 PMID:28492532 PMID:28555110 PMID:29254190 PMID:29942493 PMID:29986705 PMID:30174009 PMID:30303587 PMID:30311386 PMID:30733538 PMID:32608139 PMID:33348466 PMID:35628451 PMID:35709690 More...
NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571
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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 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148
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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 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
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Maged2
MAGE family member D2
ISO
ClinVar Annotator: match by term: Bartter disease type 5 | ClinVar Annotator: match by term: Bartter syndrome, type 5, antenatal, transient CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:27120771 PMID:28492532 PMID:29146702 PMID:29758562
NCBI chr X:19,733,593...19,741,769
Ensembl chr X:19,733,597...19,740,477
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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 PMID:25741868 PMID:26920127 PMID:28381550 PMID:28492532 PMID:29254190 More...
NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
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Kcnj5
potassium inwardly-rectifying channel, subfamily J, member 5
ISO
ClinVar Annotator: match by term: Familial hyperaldosteronism
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
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Clcn2
chloride voltage-gated channel 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: FH II | ClinVar Annotator: match by term: Familial hyperaldosteronism type II
CTD OMIM ClinVar
PMID:1521363 PMID:17762171 PMID:19191339 PMID:19861545 PMID:21703448 PMID:23542698 PMID:23707145 PMID:25741868 PMID:25907736 PMID:28492532 PMID:29403011 PMID:29403012 PMID:31589614 PMID:32906206 More...
NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657
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Satb1
SATB homeobox 1
ISO
ClinVar Annotator: match by term: Familial hyperaldosteronism type II
ClinVar
PMID:29403011
NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
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Kcnj5
potassium inwardly-rectifying channel, subfamily J, member 5
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial hyperaldosteronism type 3 | ClinVar Annotator: match by term: Familial hyperaldosteronism type III
OMIM CTD ClinVar
PMID:20560207 PMID:21311022 PMID:22203740 PMID:22252394 PMID:22308486 PMID:22628607 PMID:23829355 PMID:24037882 PMID:24420545 PMID:24506072 PMID:24574546 PMID:24819081 PMID:25057880 PMID:25417227 PMID:25741868 PMID:26350513 PMID:28447626 PMID:28492532 PMID:29016797 PMID:29396561 PMID:29726953 PMID:30764634 PMID:30847666 PMID:31521807 PMID:34426522 More...
NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
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Cacna1h
calcium voltage-gated channel subunit alpha1 H
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ALDOSTERONISM, PRIMARY, AND HYPERTENSION | ClinVar Annotator: match by term: Hyperaldosteronism, familial, type IV
CTD OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:17696120 PMID:25741868 PMID:25907736 PMID:26467025 PMID:26587300 PMID:27148582 PMID:27331657 PMID:27729216 PMID:28492532 PMID:30860130 PMID:32227660 More...
NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
ISO
ClinVar Annotator: match by term: ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE | ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism | ClinVar Annotator: match by term: Hyperaldosteronism, familial, type I ClinVar Annotator: match by term: ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE | ClinVar Annotator: match by term: GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM | ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism | ClinVar Annotator: match by term: Hyperaldosteronism, familial, type I CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1472060 PMID:1731223 PMID:2022736 PMID:7049883 PMID:7903314 PMID:8004113 PMID:8506298 PMID:8768848 PMID:8964882 PMID:8989319 PMID:9302260 PMID:9435454 PMID:9536098 PMID:9546661 PMID:10487675 PMID:11095433 PMID:11549691 PMID:12452430 PMID:12966519 PMID:15026188 PMID:15062555 PMID:15324322 PMID:15751602 PMID:15755848 PMID:15807871 PMID:16030166 PMID:16046588 PMID:16670167 PMID:16984984 PMID:17121536 PMID:17296872 PMID:17371482 PMID:17576681 PMID:17692261 PMID:17726333 PMID:18204274 PMID:19567537 PMID:19820005 PMID:19844114 PMID:20024693 PMID:20089618 PMID:22333028 PMID:22465514 PMID:22964742 PMID:23345044 PMID:23940125 PMID:24022297 PMID:24033266 PMID:24536089 PMID:25525159 PMID:25741868 PMID:25911436 PMID:25913739 PMID:26053152 PMID:26300845 PMID:26467025 PMID:26476331 PMID:26956189 PMID:27376426 PMID:27376433 PMID:27821898 PMID:28228528 PMID:28492532 PMID:28514642 PMID:30223866 PMID:30242600 PMID:32850530 PMID:33275286 PMID:33864926 More...
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
G
Cyp11b3
cytochrome P450, family 11, subfamily b, polypeptide 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism
CTD ClinVar
PMID:1472060 PMID:1594605 PMID:1731223 PMID:8530633 PMID:8954040 PMID:9703385 PMID:9814506 PMID:10965212 PMID:11174838 PMID:11549691 PMID:15324322 PMID:16118341 PMID:18710464 PMID:22465514 PMID:22931312 PMID:24033266 PMID:25102047 PMID:25741868 PMID:28492532 PMID:33098647 More...
NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
G
Hbb-b1
hemoglobin, beta adult major chain
ISO
ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism
ClinVar
PMID:1398286 PMID:1742490 PMID:3401592 PMID:12402333 PMID:16434382 PMID:25741868 More...
NCBI chr 1:158,224,175...158,231,675
Ensembl chr 1:158,120,200...158,252,012
G
Cacna1d
calcium voltage-gated channel subunit alpha1 D
ISO
ClinVar Annotator: match by term: CACNA1D-related condition | ClinVar Annotator: match by term: CACNA1D-related disorder | ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:23913001 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28318089 PMID:28492532 PMID:30847666 PMID:32561571 PMID:33432195 More...
NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215
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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 PMID:30303587 PMID:30311386 More...
NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571
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