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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 ISO CTD Direct Evidence: therapeutic CTD PMID:11370731 NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
JBrowse link
ACTH-independent macronodular adrenal hyperplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100990650 guanine nucleotide-binding protein G(s) subunit alpha ISO 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 chr20:55,190,607...55,262,245 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 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:23,498,343...23,507,287 JBrowse link
G GCGR glucagon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20529775 NCBI chr17:76,205,023...76,220,171
Ensembl chr17:81,912,135...81,922,906
JBrowse link
G LOC100990650 guanine nucleotide-binding protein G(s) subunit alpha ISO OMIM NCBI chr20:55,190,607...55,262,245 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 ISO OMIM NCBI chr16:23,498,343...23,507,287 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 ISO 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:143,275,165...143,295,283
Ensembl chr  X:153,162,412...153,182,424
JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:rs8048002T>C
CTD
RGD
PMID:18593762 RGD:5491177 NCBI chr16:9,819,440...9,885,379
Ensembl chr16:11,041,434...11,090,485
JBrowse link
G CLEC16A C-type lectin domain containing 16A ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:intron:rs12917716C
CTD
RGD
PMID:18593762 RGD:5491177 NCBI chr16:9,887,877...10,124,500
Ensembl chr16:11,109,869...11,343,512
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain ISO DNA:repeat (human)
DNA:polymorphism (human)
RGD PMID:12072047 PMID:20455895 RGD:5147608 RGD:5147829 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 ISO DNA: snp: cds: rs2476601 RGD PMID:18301444 RGD:6484549 NCBI chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830
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 ISO ClinVar Annotator: match by term: Adrenal cortical tumor, somatic ClinVar PMID:2116665 NCBI chr 3:50,154,731...50,187,948
Ensembl chr 3:51,398,981...51,421,988
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Adrenal cortical tumor, somatic ClinVar PMID:12203783 PMID:14500362 NCBI chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943
JBrowse link
G TP53 tumor protein p53 ISO DNA:missense mutation::p.R337H (human) RGD PMID:28387921 RGD:14995484 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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 ISO ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma ClinVar PMID:23416519 NCBI chr 1:86,162,401...86,193,883
Ensembl chr 1:121,212,488...121,243,099
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma ClinVar PMID:23416519 NCBI chr  X:143,068,171...143,133,479
Ensembl chr  X:152,955,109...153,019,445
JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO mRNA:decreased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr 8:139,584,976...139,592,466
Ensembl chr 8:142,629,127...142,634,654
JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha ISO associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human) RGD PMID:24855271 RGD:13515122 NCBI chr19:13,657,344...13,683,864
Ensembl chr19:14,385,191...14,406,205
JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669941 NCBI chr 1:116,625,640...116,786,396
Ensembl chr 1:85,487,681...85,644,253
JBrowse link
adrenal gland hyperfunction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100990650 guanine nucleotide-binding protein G(s) subunit alpha ISO 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 chr20:55,190,607...55,262,245 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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12015757 NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238
JBrowse link
G BAP1 BRCA1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adrenocortical carcinoma
CTD
ClinVar
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 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr 9:21,803,862...21,831,322 JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adrenocortical carcinoma
CTD
ClinVar
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 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
JBrowse link
G DAXX death domain associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr 6:32,890,846...32,895,307
Ensembl chr 6:34,004,543...34,008,717
JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23585556 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22407999 NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
JBrowse link
G IGF2 insulin like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21521927 PMID:23417626 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890
JBrowse link
G LOC100970414 histone H3.3A ISO ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar PMID:26619011 NCBI chr 1:201,523,670...201,533,005
Ensembl chr 1:206,520,109...206,529,447
JBrowse link
G LOC100990650 guanine nucleotide-binding protein G(s) subunit alpha ISO 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 chr20:55,190,607...55,262,245 JBrowse link
G MED12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr  X:60,386,820...60,410,730
Ensembl chr  X:70,443,667...70,466,942
JBrowse link
G MEN1 menin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO 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 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO 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 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
JBrowse link
G RRM1 ribonucleotide reductase catalytic subunit M1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22547773 NCBI chr11:3,956,528...3,999,205
Ensembl chr11:4,068,119...4,110,474
JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:22156929 NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
JBrowse link
G TOP2A DNA topoisomerase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23533247 NCBI chr17:16,872,169...16,901,605
Ensembl chr17:17,097,778...17,126,207
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adrenocortical carcinoma
CTD
ClinVar
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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G ZNRF3 zinc and ring finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr22:9,891,021...10,109,147
Ensembl chr22:27,742,301...27,810,427
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 ISO OMIM NCBI chr16:47,776,118...47,782,861
Ensembl chr16:67,165,215...67,171,417
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15521956 NCBI chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943
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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD
ClinVar
PMID:11152759 PMID:12107202 PMID:12191970 PMID:12241879 PMID:15005845 PMID:17048213 PMID:25741868 NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268
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 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
RGD
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 RGD:1600603 NCBI chr 1:54,281,736...54,292,159
Ensembl chr 1:55,869,495...55,879,674
JBrowse link
G CLCNKB chloride voltage-gated channel Kb ISO CTD Direct Evidence: marker/mechanism CTD PMID:10561751 NCBI chr 1:15,180,858...15,194,757
Ensembl chr 1:16,174,570...16,188,166
JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Antenatal Bartter Syndrome
CTD
ClinVar
PMID:10561751 PMID:12911542 PMID:16982955 PMID:22275899 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:123,649,466...123,680,149
Ensembl chr11:127,553,327...127,557,860
JBrowse link
G 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 SLC12A1 solute carrier family 12 member 1 ISO antenatal Bartter syndrome type 1,OMIM:601678;DNA:point mutation:exon:D648N, V272F
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:8640224 PMID:10561751 RGD:1624188 NCBI chr15:27,155,331...27,252,995
Ensembl chr15:45,479,583...45,577,084
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 ISO OMIM NCBI chr15:27,155,331...27,252,995
Ensembl chr15:45,479,583...45,577,084
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 ISO OMIM NCBI chr11:123,649,466...123,680,149
Ensembl chr11:127,553,327...127,557,860
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 ISO ClinVar Annotator: match by term: Bartter syndrome 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 CLCNKB chloride voltage-gated channel Kb ISO OMIM NCBI chr 1:15,180,858...15,194,757
Ensembl chr 1:16,174,570...16,188,166
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 ISO OMIM NCBI chr 1:54,281,736...54,292,159
Ensembl chr 1:55,869,495...55,879,674
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 ISO OMIM NCBI chr 1:15,159,362...15,171,376
Ensembl chr 1:16,152,022...16,163,777
JBrowse link
G CLCNKB chloride voltage-gated channel Kb ISO OMIM NCBI chr 1:15,180,858...15,194,757
Ensembl chr 1:16,174,570...16,188,166
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 ISO OMIM NCBI chr  X:47,010,009...47,018,370
Ensembl chr  X:55,241,161...55,249,256
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 ISO ClinVar Annotator: match by term: Bartter syndrome, type 3, with hypocalciuria ClinVar PMID:15531551 PMID:16902263 PMID:20810575 PMID:26920127 PMID:28492532 NCBI chr 1:15,180,858...15,194,757
Ensembl chr 1:16,174,570...16,188,166
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 ISO RGD PMID:23884782 RGD:14700670 NCBI chr 1:181,713,548...181,723,645
Ensembl chr 1:185,999,627...186,007,043
JBrowse link
G CRH corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:21359208 NCBI chr 8:62,714,721...62,716,979
Ensembl chr 8:64,383,419...64,384,009
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 5:157,072,915...157,089,994
Ensembl chr 5:163,767,304...163,784,331
JBrowse link
G LOC100990650 guanine nucleotide-binding protein G(s) subunit alpha ISO 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 chr20:55,190,607...55,262,245 JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO protein:decreased activity:blood, mononuclear leukocyte RGD PMID:10356629 PMID:10471508 PMID:19635986 RGD:7174715 RGD:7174722 RGD:7174723 NCBI chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6088243 PMID:19153526 NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669941 NCBI chr 1:116,625,640...116,786,396
Ensembl chr 1:85,487,681...85,644,253
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12213893 PMID:15521956 PMID:29367455 RGD:1581269 NCBI chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943
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 ISO ClinVar Annotator: match by term: Familial hyperaldosteronism ClinVar PMID:28492532 NCBI chr11:123,705,361...123,735,370
Ensembl chr11:127,606,208...127,634,213
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 ISO OMIM NCBI chr 3:181,383,608...181,399,200
Ensembl chr 3:189,862,489...189,881,049
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 ISO OMIM NCBI chr11:123,705,361...123,735,370
Ensembl chr11:127,606,208...127,634,213
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 ISO OMIM Ensembl chr16:1,195,364...1,222,917 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 ISO OMIM NCBI chr 8:139,584,976...139,592,466
Ensembl chr 8:142,629,127...142,634,654
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 ISO OMIM NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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 ISO 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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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 ISO OMIM NCBI chr 3:53,432,189...53,751,347
Ensembl chr 3:54,495,952...54,970,444
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23416519 NCBI chr 1:86,162,401...86,193,883
Ensembl chr 1:121,212,488...121,243,099
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23416519 NCBI chr  X:143,068,171...143,133,479
Ensembl chr  X:152,955,109...153,019,445
JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD PMID:23913001 NCBI chr 3:53,432,189...53,751,347
Ensembl chr 3:54,495,952...54,970,444
JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Primary hyperaldosteronism
ClinVar Annotator: match by term: Hyperaldosteronism
ClinVar PMID:25741868 PMID:25907736 PMID:28492532 Ensembl chr16:1,195,364...1,222,917 JBrowse link
G CLCN2 chloride voltage-gated channel 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29403012 NCBI chr 3:181,383,608...181,399,200
Ensembl chr 3:189,862,489...189,881,049
JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism
DNA:gene fusion:intron:Cyp11b2 (human)
CTD
RGD
PMID:1731223 PMID:11085685 RGD:4891155 NCBI chr 8:139,584,976...139,592,466
Ensembl chr 8:142,629,127...142,634,654
JBrowse link
G LOC100982531 cytochrome b-245 heavy chain ISO Protein:increased expression:heart ventricle RGD PMID:16373592 RGD:1599681 NCBI chr  X:30,230,394...30,267,379
Ensembl chr  X:37,939,704...37,973,183
JBrowse link
G LOC100990650 guanine nucleotide-binding protein G(s) subunit alpha ISO 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 chr20:55,190,607...55,262,245 JBrowse link
G SERPINA1 serpin family A member 1 ISO RGD PMID:15475529 RGD:1643158 NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419
JBrowse link
Primary Pigmented Nodular Adrenocortical Disease, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100990650 guanine nucleotide-binding protein G(s) subunit alpha ISO 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 chr20:55,190,607...55,262,245 JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO OMIM NCBI chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943
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 ISO ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2 ClinVar PMID:25741868 NCBI chr18:24,296,505...24,332,997
Ensembl chr18:27,894,603...27,930,843
JBrowse link
G PDE11A phosphodiesterase 11A ISO OMIM NCBI chr2B:64,903,170...65,332,922 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 ISO OMIM NCBI chr 5:37,874,089...38,121,322 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 ISO OMIM NCBI chr19:13,657,344...13,683,864
Ensembl chr19:14,385,191...14,406,205
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 ISO ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction ClinVar PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr 1:54,281,736...54,292,159
Ensembl chr 1:55,869,495...55,879,674
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 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:23,728,650...26,338,849
Ensembl chr  X:31,282,415...33,492,733
JBrowse link
G FTHL17 ferritin heavy chain like 17 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:23,680,709...23,681,515
Ensembl chr  X:31,232,234...31,232,785
JBrowse link
G GK glycerol kinase ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:23,250,290...23,327,373
Ensembl chr  X:30,806,950...30,877,131
JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:21,180,693...22,548,122
Ensembl chr  X:28,950,521...30,109,286
JBrowse link
G MAGEB2 MAGE family member B2 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:22,804,983...22,810,236
Ensembl chr  X:30,369,947...30,370,906
JBrowse link
G MAGEB3 MAGE family member B3 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:22,820,432...22,837,556 JBrowse link
G MAGEB4 MAGE family member B4 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:22,840,883...22,843,295
Ensembl chr  X:30,397,398...30,398,438
JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 ISO OMIM NCBI chr  X:22,903,403...22,908,527
Ensembl chr  X:30,459,527...30,464,652
JBrowse link
G TAB3 TGF-beta activated kinase 1 (MAP3K7) binding protein 3 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:23,428,343...23,489,688
Ensembl chr  X:30,980,841...31,012,994
JBrowse link
G TASL TLR adaptor interacting with endolysosomal SLC15A4 ISO ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked ClinVar NCBI chr  X:23,159,321...23,178,192
Ensembl chr  X:30,716,617...30,717,522
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13605
    disease of anatomical entity 13266
      endocrine system disease 4862
        adrenal gland disease 197
          adrenal cortex disease 69
            Adrenal Cortex Neoplasms + 29
            Adrenocortical Unresponsiveness to Acth with Postreceptor Defect 0
            Nelson syndrome 0
            adrenal cortical hypofunction + 15
            adrenal gland hyperfunction + 28
            primary pigmented nodular adrenocortical disease + 6
paths to the root