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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:adrenocortical carcinoma
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Accession:DOID:3948 term browser browse the term
Definition:A malignant neoplasm of the ADRENAL CORTEX. Adrenocortical carcinomas are unencapsulated anaplastic (ANAPLASIA) masses sometimes exceeding 20 cm or 200 g. They are more likely to be functional than nonfunctional, and produce ADRENAL CORTEX HORMONES that may result in hypercortisolism (CUSHING SYNDROME); HYPERALDOSTERONISM; and/or VIRILISM.
Synonyms:exact_synonym: Adrenal Cortical Carcinomas;   adrenal cortical carcinoma;   adrenocortical carcinomas;   carcinoma of the adrenal cortex
 primary_id: MESH:D018268
 alt_id: RDO:0007151
 xref: GARD:558;   NCI:C22992;   NCI:C9325
For additional species annotation, visit the Alliance of Genome Resources.


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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:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:21159183 PMID:21343334 PMID:21470402 PMID:21484931 PMID:21514416 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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13663
    disease of anatomical entity 13322
      endocrine system disease 4914
        endocrine gland cancer 2211
          adrenal gland cancer 23
            adrenal cortex cancer 22
              adrenocortical carcinoma 22
                Hereditary Adrenocortical Carcinoma 1
                Pediatric Adrenocortical Carcinoma 1
                adrenal cortical adenocarcinoma 0
Path 2
Term Annotations click to browse term
  disease 13663
    disease of cellular proliferation 6499
      Neoplasms by Site 5931
        Endocrine Gland Neoplasms 2367
          endocrine gland cancer 2211
            adrenal gland cancer 23
              adrenal cortex cancer 22
                adrenocortical carcinoma 22
                  Hereditary Adrenocortical Carcinoma 1
                  Pediatric Adrenocortical Carcinoma 1
                  adrenal cortical adenocarcinoma 0
paths to the root