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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:adrenal cortex disease
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Accession:DOID:3952 term browser browse the term
Definition:Pathological processes of the ADRENAL CORTEX.
Synonyms:exact_synonym: adrenal cortex diseases
 primary_id: MESH:D000303
 alt_id: RDO:0004754
For additional species annotation, visit the Alliance of Genome Resources.


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adrenal cortex disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMC proopiomelanocortin EXP CTD Direct Evidence: therapeutic CTD PMID:11370731 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
ACTH-independent macronodular adrenal hyperplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAS GNAS complex locus IAGP ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA ClinVar PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011 NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
ACTH-independent macronodular adrenal hyperplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARMC5 armadillo repeat containing 5 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr16:31,458,273...31,467,167
Ensembl chr16:31,458,080...31,467,166
JBrowse link
G GCGR glucagon receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:20529775 NCBI chr17:81,804,078...81,814,008
Ensembl chr17:81,804,132...81,814,008
JBrowse link
G GNAS GNAS complex locus IAGP DNA:missense mutations:exon:p.R201S, p.R201H (human)
ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA
OMIM
ClinVar
PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011, PMID:12727968 RGD:11568052 NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
ACTH-independent macronodular adrenal hyperplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARMC5 armadillo repeat containing 5 IAGP ClinVar Annotator: match by term: Acth-independent macronodular adrenal hyperplasia 2 ClinVar
OMIM
PMID:24283224 PMID:24601692 PMID:24905064 PMID:25741868 NCBI chr16:31,458,273...31,467,167
Ensembl chr16:31,458,080...31,467,166
JBrowse link
Addison's disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP ClinVar Annotator: match by term: Addison's disease ClinVar PMID:7581394 PMID:7668254 PMID:8040304 PMID:8773611 PMID:10190819 PMID:11248239 PMID:11748843 PMID:12530690 PMID:12624723 PMID:14767898 PMID:15032602 PMID:15811009 PMID:16087056 PMID:17542813 PMID:17990484 PMID:21476988 PMID:22479560 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:153,724,851...153,744,755
Ensembl chr  X:153,724,856...153,744,755
JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP
EXP
DNA:polymorphism:intron:rs8048002T>C
CTD Direct Evidence: marker/mechanism
CTD PMID:18593762, PMID:18593762 RGD:5491177 NCBI chr16:10,866,208...10,941,562
Ensembl chr16:10,866,222...10,943,021
JBrowse link
G CLEC16A C-type lectin domain containing 16A IAGP
EXP
DNA:polymorphism:intron:rs12917716C
CTD Direct Evidence: marker/mechanism
CTD PMID:18593762, PMID:18593762 RGD:5491177 NCBI chr16:10,944,539...11,193,272
Ensembl chr16:10,944,564...11,182,186
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphism (human)
DNA:repeat (human)
RGD PMID:20455895, PMID:12072047 RGD:5147608, RGD:5147829 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP DNA:polymorphisms (human)
DNA:polymorphism (human)
RGD PMID:21816777, PMID:19858318 RGD:5147553, RGD:5147588 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,578,769...32,589,848
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP DNA: snp: cds: rs2476601 RGD PMID:18301444 RGD:6484549 NCBI chr 1:113,813,811...113,871,761
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G VDR vitamin D receptor IEA GAD PMID:15118671 RGD:1331525 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
Adrenal Cortex Neoplasms term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAI2 G protein subunit alpha i2 IAGP ClinVar Annotator: match by term: Adrenal cortical tumor, somatic ClinVar PMID:2116665 NCBI chr 3:50,227,068...50,259,362
Ensembl chr 3:50,226,292...50,259,362
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ClinVar Annotator: match by term: Adrenal cortical tumor, somatic ClinVar PMID:12203783 PMID:14500362 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G TP53 tumor protein p53 IAGP DNA:missense mutation::p.R337H (human) RGD PMID:28387921 RGD:14995484 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
adrenal cortical adenoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 IAGP ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma ClinVar PMID:23416519 NCBI chr 1:116,372,986...116,410,259
Ensembl chr 1:116,372,668...116,410,261
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 IAGP ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma ClinVar PMID:23416519 NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,676...153,582,939
JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 IEP mRNA:decreased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,354...142,879,846
Ensembl chr 8:142,872,354...142,879,846
JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 IEP mRNA:increased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human) RGD PMID:24855271 RGD:13515122 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:29669941 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
JBrowse link
adrenal gland hyperfunction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAS GNAS complex locus IAGP ClinVar Annotator: match by term: Hyperadrenocorticism ClinVar PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011 NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
adrenocortical carcinoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12015757 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
Ensembl chr 7:87,503,017...87,713,323
JBrowse link
G BAP1 BRCA1 associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr 3:52,401,004...52,410,030
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP
EXP
ClinVar Annotator: match by term: Adrenocortical carcinoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12068308 PMID:14612909 PMID:14679157 PMID:14688025 PMID:17096326 PMID:17119447 PMID:17311103 PMID:18368129 PMID:18794803 PMID:19383316 PMID:19537845 PMID:19913317 PMID:20350999 PMID:20619739 PMID:21129611 PMID:22310681 PMID:23352452 PMID:23585556 PMID:24033266 PMID:25157968 PMID:26619011 PMID:28492532 PMID:29595366 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A EXP CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,753...21,995,301
Ensembl chr 9:21,967,753...21,995,301
JBrowse link
G CTNNB1 catenin beta 1 IAGP
EXP
ClinVar Annotator: match by term: Adrenocortical carcinoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9065403 PMID:9500465 PMID:9927029 PMID:10027390 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:23265383 PMID:24747642 PMID:24788118 PMID:25157968 PMID:26619011 PMID:26822237 NCBI chr 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G DAXX death domain associated protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr 6:33,318,558...33,322,959
Ensembl chr 6:33,318,558...33,323,016
JBrowse link
G EGFR epidermal growth factor receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:23585556 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G GNAS GNAS complex locus IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011 NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G H3-3A H3.3 histone A IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar PMID:26619011 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,073,212
Ensembl chr 1:226,061,851...226,073,212
Ensembl chr 1:226,061,851...226,073,212
JBrowse link
G IGF1R insulin like growth factor 1 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:22407999 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G IGF2 insulin like growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21521927 PMID:23417626 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,141,238
JBrowse link
G MED12 mediator complex subunit 12 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,556...71,142,454
JBrowse link
G MEN1 menin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr11:64,803,514...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22658544 PMID:22729222 PMID:22729224 PMID:23100325 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:31775759 NCBI chr 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G RB1 RB transcriptional corepressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22547773 NCBI chr11:4,094,685...4,138,932
Ensembl chr11:4,094,707...4,138,932
JBrowse link
G SPARC secreted protein acidic and cysteine rich EXP CTD Direct Evidence: marker/mechanism CTD PMID:22156929 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975
JBrowse link
G TERT telomerase reverse transcriptase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TOP2A DNA topoisomerase II alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:23533247 NCBI chr17:40,388,525...40,417,902
Ensembl chr17:40,388,525...40,417,896
JBrowse link
G TP53 tumor protein p53 IAGP
EXP
ClinVar Annotator: match by term: Adrenocortical carcinoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1565144 PMID:1918170 PMID:2826609 PMID:7651740 PMID:7707106 PMID:7732013 PMID:7750099 PMID:7887414 PMID:8023157 PMID:8080050 PMID:8164043 PMID:8336941 PMID:8423216 PMID:8479749 PMID:8869100 PMID:9020384 PMID:9157982 PMID:9242456 PMID:9407971 PMID:9472631 PMID:9525742 PMID:9569050 PMID:9572492 PMID:9815696 PMID:10229196 PMID:10567903 PMID:10864200 PMID:10871862 PMID:11051241 PMID:11429705 PMID:11793474 PMID:11896595 PMID:11920788 PMID:12034820 PMID:12509279 PMID:12672316 PMID:12695689 PMID:12826609 PMID:12901974 PMID:12917626 PMID:14584079 PMID:15017592 PMID:15037740 PMID:15390294 PMID:15607980 PMID:15951970 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16736287 PMID:16861262 PMID:17401428 PMID:17540308 PMID:17541742 PMID:17606709 PMID:17636407 PMID:17724467 PMID:18208484 PMID:18511570 PMID:18555592 PMID:18685109 PMID:18989156 PMID:19147582 PMID:19336573 PMID:19367569 PMID:19468865 PMID:19681600 PMID:19850740 PMID:20127978 PMID:20128691 PMID:20407015 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:21159183 PMID:21343334 PMID:21470402 PMID:21484931 PMID:21535297 PMID:21552135 PMID:21626334 PMID:21761402 PMID:22710932 PMID:22768918 PMID:22811390 PMID:22847613 PMID:22899716 PMID:23161690 PMID:23259501 PMID:23585556 PMID:23894400 PMID:23967324 PMID:24033266 PMID:24381225 PMID:24384472 PMID:24487413 PMID:24641375 PMID:24677579 PMID:24728327 PMID:24744791 PMID:24747642 PMID:24940547 PMID:25157968 PMID:25339994 PMID:25503501 PMID:25584008 PMID:25584637 PMID:25741868 PMID:25787918 PMID:25896519 PMID:26014290 PMID:26270727 PMID:26467025 PMID:26556299 PMID:26619011 PMID:26681312 PMID:26822237 PMID:26845104 PMID:27022024 PMID:27149858 PMID:27374712 PMID:27458004 PMID:27533082 PMID:27724982 PMID:27730344 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28724667 PMID:28861920 PMID:29070607 PMID:29489754 PMID:29753700 PMID:29979965 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30299350 PMID:30311369 PMID:30352134 PMID:30630526 PMID:30709381 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31206626 PMID:31775759 PMID:32401780 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G ZNRF3 zinc and ring finger 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr22:28,800,657...29,057,488
Ensembl chr22:28,883,572...29,057,488
JBrowse link
apparent mineralocorticoid excess syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 IAGP
EXP
ClinVar Annotator: match by term: Apparent mineralocorticoid excess
ClinVar Annotator: match by term: Apparent mineralocorticoid excess, mild
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:3860318 PMID:7593417 PMID:7593456 PMID:7608290 PMID:7670488 PMID:9398712 PMID:9683587 PMID:9683905 PMID:9707624 PMID:9851783 PMID:10536001 PMID:11085685 PMID:11238516 PMID:12788846 PMID:15126515 PMID:15134813 PMID:17314322 PMID:19075542 PMID:24123366 PMID:25526675 PMID:25593612 PMID:25741868 PMID:26467025 NCBI chr16:67,431,121...67,437,553
Ensembl chr16:67,430,652...67,437,553
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:15521956 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
Autosomal Dominant Hypocalcemia, with Bartter Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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:12107202 PMID:12191970 PMID:12241879 PMID:15005845 PMID:17048213 PMID:25741868 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,683...122,291,629
Ensembl chr 3:122,183,683...122,291,629
JBrowse link
Bartter disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 PMID:11687798 PMID:16583241 PMID:16773427 PMID:17954364 PMID:18776122 PMID:19025784 PMID:19096086 PMID:23967202 PMID:24033266 PMID:24902942 PMID:25741868 PMID:26467025 PMID:28012523 PMID:28492532 PMID:29254190 PMID:30174009, PMID:11687798 RGD:1600603 NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172
JBrowse link
G CLCNKB chloride voltage-gated channel Kb EXP CTD Direct Evidence: marker/mechanism CTD PMID:10561751 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,043,736...16,057,308
JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 IAGP
EXP
ClinVar Annotator: match by term: Antenatal Bartter Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10561751 PMID:12911542 PMID:16982955 PMID:22275899 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373
JBrowse link
G 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 SLC12A1 solute carrier family 12 member 1 IAGP
EXP
antenatal Bartter syndrome type 1,OMIM:601678;DNA:point mutation:exon:D648N, V272F
CTD Direct Evidence: marker/mechanism
CTD PMID:10561751, PMID:8640224 RGD:1624188 NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078
JBrowse link
Bartter disease type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC12A1 solute carrier family 12 member 1 IAGP ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal ClinVar
OMIM
PMID:8640224 PMID:9355073 PMID:9585600 PMID:12761241 PMID:15167446 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:25741868 PMID:26467025 PMID:26963954 PMID:28000888 PMID:28095294 PMID:28492532 PMID:28893421 PMID:30113482 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 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 IAGP ClinVar Annotator: match by term: Bartter syndrome, type 2, antenatal ClinVar
OMIM
PMID:8841184 PMID:9002665 PMID:9015377 PMID:9580661 PMID:9727001 PMID:10049979 PMID:11318951 PMID:12911542 PMID:18391953 PMID:19096086 PMID:19602640 PMID:20699659 PMID:22245519 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32590952 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 CLCNKA chloride voltage-gated channel Ka IAGP ClinVar Annotator: match by term: Bartter syndrome 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 CLCNKB chloride voltage-gated channel Kb IAGP ClinVar Annotator: match by term: Bartter syndrome type 3 ClinVar
OMIM
PMID:9326936 PMID:10831588 PMID:10906158 PMID:11102542 PMID:11734858 PMID:17185149 PMID:21631963 PMID:23991001 PMID:24033266 PMID:24058621 PMID:24830959 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25810436 PMID:26467025 PMID:28288174 PMID:28555925 PMID:32576985 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,043,736...16,057,308
JBrowse link
G LOC106501713 CLCNKB recombination region IAGP ClinVar Annotator: match by term: Bartter syndrome type 3 ClinVar PMID:9326936 PMID:10831588 PMID:11102542 PMID:11734858 PMID:17185149 PMID:21631963 PMID:23991001 PMID:24033266 PMID:24058621 PMID:24830959 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25810436 PMID:26467025 PMID:28288174 PMID:28555925 PMID:32576985 NCBI chr 1:16,044,593...16,059,459 JBrowse link
Bartter disease type 4A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSND barttin CLCNK type accessory subunit beta IAGP ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS
ClinVar Annotator: match by term: Bartter disease type 4a
ClinVar
OMIM
PMID:9463315 PMID:11687798 PMID:11734858 PMID:12574213 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:25741868 PMID:26467025 PMID:26537508 PMID:28012523 PMID:28492532 PMID:29254190 PMID:30174009 PMID:30303587 NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172
JBrowse link
Bartter disease type 4b term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCNKA chloride voltage-gated channel Ka IAGP ClinVar Annotator: match by term: Bartter syndrome, type 4b ClinVar
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 CLCNKB chloride voltage-gated channel Kb IAGP OMIM NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,043,736...16,057,308
JBrowse link
G LOC106501712 CLCNKA recombination region IAGP ClinVar Annotator: match by term: Bartter syndrome, type 4b ClinVar PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:16,023,929...16,036,205 JBrowse link
Bartter disease type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAGED2 MAGE family member D2 IAGP ClinVar Annotator: match by term: Bartter syndrome, type 5, antenatal, transient ClinVar
OMIM
PMID:27120771 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 CLCNKB chloride voltage-gated channel Kb IAGP ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:20810575 PMID:26920127 PMID:28492532 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,043,736...16,057,308
JBrowse link
G LOC106501713 CLCNKB recombination region IAGP ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:20810575 PMID:26920127 PMID:28492532 NCBI chr 1:16,044,593...16,059,459 JBrowse link
Cushing Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AVPR1B arginine vasopressin receptor 1B IEP RGD PMID:23884782 RGD:14700670 NCBI chr 1:206,106,936...206,117,388
Ensembl chr 1:206,106,936...206,117,699
JBrowse link
G CRH corticotropin releasing hormone EXP CTD Direct Evidence: marker/mechanism CTD PMID:21359208 NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464
JBrowse link
G GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 ISO DNA:polymorphism:3' utr:1519T>C, abdominal obesity and hypercortisolism RGD PMID:12080446 RGD:1626491 NCBI chr 5:161,685,721...161,702,592
Ensembl chr 5:161,547,063...161,702,593
JBrowse link
G GNAS GNAS complex locus IAGP ClinVar Annotator: match by term: Cushing's syndrome ClinVar PMID:1594625 PMID:1944469 PMID:2109828 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO
IDA
protein:decreased activity:blood, mononuclear leukocyte RGD PMID:19635986, PMID:10356629, PMID:10471508 RGD:7174715, RGD:7174723, RGD:7174722 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:6088243 PMID:19153526 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:29669941 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:15521956 PMID:29367455, PMID:12213893 RGD:1581269 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
Familial Hyperaldosteronism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP ClinVar Annotator: match by term: Familial hyperaldosteronism ClinVar PMID:28492532 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
JBrowse link
Familial Hyperaldosteronism, Type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN2 chloride voltage-gated channel 2 IAGP
EXP
ClinVar Annotator: match by term: Hyperaldosteronism, familial, type II
ClinVar Annotator: match by term: FH II
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:19191339 PMID:19861545 PMID:23542698 PMID:25741868 PMID:25907736 PMID:29403011 PMID:29403012 NCBI chr 3:184,346,185...184,361,605
Ensembl chr 3:184,346,185...184,361,650
JBrowse link
Familial Hyperaldosteronism, Type III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP ClinVar Annotator: match by term: HYPERALDOSTERONISM, FAMILIAL, TYPE III
ClinVar Annotator: match by term: FH III
ClinVar
OMIM
PMID:20560207 PMID:21311022 PMID:22203740 PMID:22252394 PMID:22308486 PMID:22628607 PMID:23829355 PMID:24037882 PMID:24420545 PMID:24574546 PMID:24819081 PMID:25057880 PMID:25741868 PMID:28492532 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
JBrowse link
Familial Hyperaldosteronism, Type IV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1H calcium voltage-gated channel subunit alpha1 H IAGP ClinVar Annotator: match by term: Hyperaldosteronism, familial, type IV
ClinVar Annotator: match by term: ALDOSTERONISM, PRIMARY, AND HYPERTENSION
ClinVar
OMIM
PMID:15048902 PMID:15852375 PMID:17696120 PMID:25741868 PMID:25907736 PMID:26467025 PMID:28492532 NCBI chr16:1,153,106...1,221,769
Ensembl chr16:1,153,106...1,221,771
JBrowse link
glucocorticoid-remediable aldosteronism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 IAGP
EXP
ClinVar Annotator: match by term: Hyperaldosteronism, familial, type I
ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism
ClinVar Annotator: match by term: ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1472060 PMID:1731223 PMID:2022736 PMID:7049883 PMID:8506298 PMID:8768848 PMID:8964882 PMID:8989319 PMID:9435454 PMID:9546661 PMID:11549691 PMID:12452430 PMID:12966519 PMID:15026188 PMID:15062555 PMID:15751602 PMID:16030166 PMID:16984984 PMID:17371482 PMID:17692261 PMID:19820005 PMID:20024693 PMID:20089618 PMID:22465514 PMID:22964742 PMID:23345044 PMID:24022297 PMID:24033266 PMID:24536089 PMID:25741868 PMID:26300845 PMID:26467025 PMID:26956189 PMID:27376426 PMID:27376433 PMID:27821898 PMID:28228528 PMID:28492532 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,354...142,879,846
Ensembl chr 8:142,872,354...142,879,846
JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 IAGP
EXP
ClinVar Annotator: match by term: Hyperaldosteronism, familial, type I
ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1472060 PMID:1594605 PMID:1731223 PMID:8530633 PMID:8954040 PMID:9703385 PMID:9814506 PMID:10965212 PMID:11174838 PMID:11549691 PMID:16118341 PMID:18710464 PMID:22465514 PMID:22931312 PMID:24033266 PMID:25102047 PMID:28492532 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
JBrowse link
G LOC106799833 CYP11B1 recombination region IAGP ClinVar Annotator: match by term: Hyperaldosteronism, familial, type I
ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism
ClinVar PMID:2022736 PMID:7049883 PMID:8506298 PMID:8964882 PMID:8989319 PMID:9435454 PMID:9546661 PMID:11549691 PMID:12452430 PMID:12966519 PMID:15026188 PMID:15062555 PMID:15751602 PMID:16030166 PMID:16984984 PMID:17371482 PMID:17692261 PMID:19820005 PMID:20024693 PMID:20089618 PMID:22465514 PMID:22964742 PMID:23345044 PMID:24022297 PMID:24033266 PMID:24536089 PMID:25741868 PMID:26300845 PMID:26467025 PMID:26956189 PMID:27376426 PMID:27376433 PMID:27821898 PMID:28228528 PMID:28492532 NCBI chr 8:142,874,234...142,879,022 JBrowse link
G LOC106799834 CYP11B2 recombination region IAGP ClinVar Annotator: match by term: Hyperaldosteronism, familial, type I ClinVar PMID:1594605 PMID:8530633 PMID:8954040 PMID:9703385 PMID:9814506 PMID:10965212 PMID:11174838 PMID:11549691 PMID:16118341 PMID:18710464 PMID:22465514 PMID:22931312 PMID:24033266 PMID:25102047 PMID:28492532 NCBI chr 8:142,903,458...142,918,174 JBrowse link
G LOC110673971 CYP11B2 promoter IAGP ClinVar Annotator: match by term: Hyperaldosteronism, familial, type I ClinVar NCBI chr 8:142,917,842...142,919,862 JBrowse link
Hereditary Adrenocortical Carcinoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary OMIM
ClinVar
PMID:1565143 PMID:1565144 PMID:1683921 PMID:7732013 PMID:7887414 PMID:8164043 PMID:8198984 PMID:8203469 PMID:8423216 PMID:8825920 PMID:9047394 PMID:9242456 PMID:9569050 PMID:9865903 PMID:10411893 PMID:10797439 PMID:10811497 PMID:10864200 PMID:11040944 PMID:11101847 PMID:11139324 PMID:11391594 PMID:11479205 PMID:11782540 PMID:12007217 PMID:12619118 PMID:12672316 PMID:12826609 PMID:15004724 PMID:15173255 PMID:15381368 PMID:15390294 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15781620 PMID:15951970 PMID:15977174 PMID:16401470 PMID:16489069 PMID:16522644 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17224268 PMID:17289876 PMID:17311302 PMID:17540308 PMID:17606709 PMID:17636407 PMID:17727479 PMID:18391940 PMID:18511570 PMID:19127115 PMID:19367569 PMID:19556618 PMID:19881536 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20522432 PMID:20689556 PMID:20693561 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21348412 PMID:21484931 PMID:21512767 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22652532 PMID:22698404 PMID:22710932 PMID:22811390 PMID:22899716 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23263379 PMID:23403321 PMID:23484829 PMID:23538418 PMID:23792586 PMID:23894400 PMID:24033266 PMID:24076587 PMID:24381225 PMID:24487276 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24641375 PMID:24651012 PMID:24663046 PMID:24677579 PMID:24728327 PMID:24810334 PMID:24868540 PMID:25157968 PMID:25348012 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25787918 PMID:25952993 PMID:26086041 PMID:26206375 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27153395 PMID:27157322 PMID:27242894 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27516001 PMID:27619989 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28125078 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28573494 PMID:28724667 PMID:28772286 PMID:28861920 PMID:29070607 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29769598 PMID:29945567 PMID:29979965 PMID:30076369 PMID:30212483 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30374176 PMID:30588330 PMID:30816478 PMID:30883245 PMID:31016814 PMID:31159747 PMID:31775759 PMID:32000721 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
MIRAGE Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SAMD9 sterile alpha motif domain containing 9 IAGP ClinVar Annotator: match by term: Mirage syndrome ClinVar
OMIM
PMID:16960814 PMID:18094730 PMID:24029230 PMID:25741868 PMID:27182967 PMID:28346228 PMID:28492532 PMID:29266745 PMID:29365320 PMID:29506479 PMID:30046003 PMID:31208161 PMID:31638924 PMID:31666768 PMID:32106287 NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023
JBrowse link
Pediatric Adrenocortical Carcinoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Adrenocortical carcinoma, pediatric ClinVar PMID:9704930 PMID:10864200 PMID:11481490 PMID:11600572 PMID:11753428 PMID:12826609 PMID:15121773 PMID:15741269 PMID:16033918 PMID:16494995 PMID:18248785 PMID:18762572 PMID:19717094 PMID:19877175 PMID:20407015 PMID:21192060 PMID:23469205 PMID:23570263 PMID:23733769 PMID:24884479 PMID:24936644 PMID:25584008 PMID:25741868 PMID:26452166 PMID:26572807 PMID:26681051 PMID:27223487 PMID:27663983 PMID:27714481 PMID:28472496 PMID:28492532 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
Primary Aldosteronism, Seizures, and Neurologic Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1D calcium voltage-gated channel subunit alpha1 D IAGP ClinVar Annotator: match by term: Primary aldosteronism, seizures, and neurologic abnormalities ClinVar
OMIM
PMID:23913001 PMID:25741868 NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733
JBrowse link
primary hyperaldosteronism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23416519 NCBI chr 1:116,372,986...116,410,259
Ensembl chr 1:116,372,668...116,410,261
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23416519 NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,676...153,582,939
JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D EXP CTD Direct Evidence: marker/mechanism CTD PMID:23913001 NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733
JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H IAGP ClinVar Annotator: match by term: Primary hyperaldosteronism
ClinVar Annotator: match by term: Hyperaldosteronism
ClinVar PMID:25741868 PMID:25907736 PMID:28492532 NCBI chr16:1,153,106...1,221,769
Ensembl chr16:1,153,106...1,221,771
JBrowse link
G CLCN2 chloride voltage-gated channel 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29403012 NCBI chr 3:184,346,185...184,361,605
Ensembl chr 3:184,346,185...184,361,650
JBrowse link
G CRH corticotropin releasing hormone ISS OMIM:605635 | OMIM:613677 MouseDO NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464
JBrowse link
G CYBB cytochrome b-245 beta chain ISO Protein:increased expression:heart ventricle RGD PMID:16373592 RGD:1599681 NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,059...37,813,461
JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 IAGP
EXP
DNA:gene fusion:intron:Cyp11b2 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:11085685, PMID:1731223 RGD:4891155 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,354...142,879,846
Ensembl chr 8:142,872,354...142,879,846
JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 IAGP
EXP
DNA:gene fusion:intron:Cyp11b1 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:11085685, PMID:1731223 RGD:4891155 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
JBrowse link
G DRD2 dopamine receptor D2 ISS OMIM:605635 | OMIM:613677 MouseDO NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691
JBrowse link
G GNAS GNAS complex locus IAGP ClinVar Annotator: match by term: Cushing's syndrome ClinVar PMID:1594625 PMID:1944469 PMID:2109828 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IEA OMIM:605635 | OMIM:613677 MouseDO NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISS OMIM:605635 | OMIM:613677 MouseDO NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
JBrowse link
G SERPINA1 serpin family A member 1 ISO RGD PMID:15475529 RGD:1643158 NCBI chr14:94,376,747...94,390,654
Ensembl chr14:94,376,747...94,390,693
JBrowse link
primary pigmented nodular adrenocortical disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE11A phosphodiesterase 11A IEA OMIM:610475 | OMIM:610489 | OMIM:614190 | OMIM:615830 MouseDO NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,628,069...178,108,339
Ensembl chr 2:177,628,069...178,108,339
JBrowse link
G PDE8B phosphodiesterase 8B IEA OMIM:610475 | OMIM:610489 | OMIM:614190 | OMIM:615830 MouseDO NCBI chr 5:77,180,304...77,428,256
Ensembl chr 5:77,086,732...77,427,124
Ensembl chr 5:77,086,732...77,427,124
Ensembl chr 5:77,086,732...77,427,124
JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IEA OMIM:610475 | OMIM:610489 | OMIM:614190 | OMIM:615830 MouseDO NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IEA
ISS
OMIM:610475 | OMIM:610489 | OMIM:614190 | OMIM:615830 MouseDO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
Primary Pigmented Nodular Adrenocortical Disease, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAS GNAS complex locus IAGP ClinVar Annotator: match by term: Nodular primary adrenocortical dysplasia ClinVar PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011 NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 1 ClinVar
OMIM
PMID:12213893 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
Primary Pigmented Nodular Adrenocortical Disease, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSC2 desmocollin 2 IAGP ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2 ClinVar PMID:25741868 NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,840...31,102,522
JBrowse link
G PDE11A phosphodiesterase 11A IAGP ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2 ClinVar
OMIM
PMID:16767104 PMID:19671705 PMID:20351491 PMID:21047926 PMID:21681106 PMID:24033266 PMID:25741868 PMID:27535533 PMID:28492532 NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,628,069...178,108,339
Ensembl chr 2:177,628,069...178,108,339
JBrowse link
G PDE11A-AS1 PDE11A antisense RNA 1 IAGP ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2 ClinVar PMID:16767104 PMID:25741868 NCBI chr 2:177,673,322...177,723,289
Ensembl chr 2:177,653,419...177,723,289
JBrowse link
Primary Pigmented Nodular Adrenocortical Disease, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE8B phosphodiesterase 8B IAGP ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 3 ClinVar
OMIM
PMID:18272904 NCBI chr 5:77,180,304...77,428,256
Ensembl chr 5:77,086,732...77,427,124
Ensembl chr 5:77,086,732...77,427,124
Ensembl chr 5:77,086,732...77,427,124
JBrowse link
Primary Pigmented Nodular Adrenocortical Disease, 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 4 ClinVar
OMIM
PMID:24571724 PMID:24700472 PMID:24747643 PMID:24855271 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
JBrowse link
Sensorineural Deafness with Mild Renal Dysfunction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSND barttin CLCNK type accessory subunit beta IAGP ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction ClinVar PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172
JBrowse link
X-linked adrenal hypoplasia congenita term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMD dystrophin IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:31,119,219...33,339,460
Ensembl chr  X:31,097,677...33,339,441
Ensembl chr  X:31,097,677...33,339,441
JBrowse link
G FTHL17 ferritin heavy chain like 17 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:31,071,233...31,072,041
Ensembl chr  X:31,071,233...31,072,041
JBrowse link
G GK glycerol kinase IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,653,348...30,731,462
Ensembl chr  X:30,653,359...30,731,456
Ensembl chr  X:30,653,359...30,731,456
JBrowse link
G GK-AS1 GK antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,700,064...30,718,099
Ensembl chr  X:30,699,998...30,724,174
JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:28,587,446...29,956,718
Ensembl chr  X:28,587,446...29,956,718
JBrowse link
G LOC108410393 NR0B1 5' regulatory region IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,309,364...30,314,190 JBrowse link
G LOC113875019 Sharpr-MPRA regulatory region 11934 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,145,392...30,145,686 JBrowse link
G LOC116309149 CRISPRi-validated cis-regulatory element chrX.504 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,283,426...30,284,166 JBrowse link
G LOC116309150 CRISPRi-validated cis-regulatory element chrX.505 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,284,257...30,284,403 JBrowse link
G MAGEB1 MAGE family member B1 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,243,731...30,252,040
Ensembl chr  X:30,243,730...30,252,040
JBrowse link
G MAGEB2 MAGE family member B2 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,215,563...30,220,089
Ensembl chr  X:30,215,563...30,220,089
JBrowse link
G MAGEB3 MAGE family member B3 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,230,657...30,237,495
Ensembl chr  X:30,230,436...30,237,492
JBrowse link
G MAGEB4 MAGE family member B4 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,242,000...30,244,187
Ensembl chr  X:30,242,000...30,244,187
JBrowse link
G MIR3915 microRNA 3915 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:32,583,656...32,583,752
Ensembl chr  X:32,583,656...32,583,752
JBrowse link
G MIR4666B microRNA 4666b IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:29,574,278...29,574,358
Ensembl chr  X:29,574,278...29,574,358
JBrowse link
G MIR6134 microRNA 6134 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:28,495,555...28,495,663
Ensembl chr  X:28,495,555...28,495,663
JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar
OMIM
PMID:6891556 PMID:7990953 PMID:7990958 PMID:8636263 PMID:8855822 PMID:9003500 PMID:9195207 PMID:9360549 PMID:9415399 PMID:10361383 PMID:10522996 PMID:10599709 PMID:10675358 PMID:10848616 PMID:11113848 PMID:11549627 PMID:11788621 PMID:12519885 PMID:12629128 PMID:17504899 PMID:18339285 PMID:20573681 PMID:21408189 PMID:21739173 PMID:23384712 PMID:23512386 PMID:25741868 PMID:28492532 PMID:28546232 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390
JBrowse link
G TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,827,442...30,889,391
Ensembl chr  X:30,827,442...30,975,084
JBrowse link
G TAB3-AS1 TAB3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,834,623...30,839,073
Ensembl chr  X:30,834,623...30,835,300
JBrowse link
G TASL TLR adaptor interacting with endolysosomal SLC15A4 IAGP ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:30,558,809...30,577,766
Ensembl chr  X:30,558,809...30,577,766
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19890
    disease of anatomical entity 18505
      endocrine system disease 5946
        adrenal gland disease 240
          adrenal cortex disease 90
            Adrenal Cortex Neoplasms + 30
            Adrenocortical Unresponsiveness to Acth with Postreceptor Defect 0
            Nelson syndrome 0
            adrenal cortical hypofunction + 28
            adrenal gland hyperfunction + 35
            primary pigmented nodular adrenocortical disease + 7
paths to the root