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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 Gland Neoplasms
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Accession:DOID:9000362 term browser browse the term
Definition:Tumors or cancer of the ADRENAL GLANDS.
Synonyms:exact_synonym: adrenal gland neoplasm;   adrenal neoplasm;   adrenal neoplasms;   neoplasm of adrenal gland;   tumor of the adrenal gland
 primary_id: MESH:D000310
 alt_id: RDO:0001990
 xref: EFO:0003850



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Adrenal Gland Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc42 cell division cycle 42 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747643 NCBI chr 5:154,838,478...154,876,629
Ensembl chr 5:149,553,724...149,593,111
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747643 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747643 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747643 NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: therapeutic CTD PMID:19261682 NCBI chr15:46,147,878...46,152,086
Ensembl chr15:41,972,905...41,973,581
Ensembl chr15:41,972,905...41,973,581
JBrowse link
G Gnrhr gonadotropin releasing hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19131502 NCBI chr14:22,211,666...22,229,654
Ensembl chr14:21,856,871...21,874,861
JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747643 NCBI chr19:41,059,843...41,083,189
Ensembl chr19:24,155,090...24,178,430
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15492235 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747643 NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747643 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19131502 NCBI chr 6:116,072,321...116,206,009
Ensembl chr 6:110,341,581...110,474,538
JBrowse link
adrenal carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptn pleiotrophin ISO human gene in a mouse model RGD PMID:1464602 RGD:9831442 NCBI chr 4:66,260,764...66,342,614
Ensembl chr 4:65,293,734...65,375,456
JBrowse link
Adrenal Cortex Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Adrenal cortex neoplasm ClinVar PMID:10192393 PMID:10666372 PMID:26822237 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Adrenal cortical tumor, somatic ClinVar PMID:2116665 NCBI chr 8:117,167,045...117,187,652
Ensembl chr 8:108,288,401...108,308,979
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 chr10:95,120,537...95,139,028
Ensembl chr10:94,620,039...94,639,041
JBrowse link
G Tp53 tumor protein p53 ISO DNA:missense mutation::p.R337H (human) RGD PMID:28387921 RGD:14995484 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
JBrowse link
adrenal cortical adenoma term browser
Symbol Object Name Qualifiers 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 2:191,709,311...191,737,414
Ensembl chr 2:189,020,722...189,048,837
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:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775
JBrowse link
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 ISO mRNA:decreased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr 7:108,653,385...108,660,062
Ensembl chr 7:106,718,274...106,779,278
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO mRNA:increased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr 7:108,719,349...108,726,024
Ensembl chr 7:106,838,590...106,845,004
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO mRNA:increased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr 7:108,689,319...108,694,808
Ensembl chr 7:106,808,559...106,814,048
JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Adrenocortical adenoma ClinVar PMID:10647896 NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:203,639,000...203,644,871
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 chr19:41,059,843...41,083,189
Ensembl chr19:24,155,090...24,178,430
JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669941 NCBI chr 2:238,297,140...238,389,317
Ensembl chr 2:235,636,885...235,726,198
JBrowse link
adrenal gland pheochromocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Adrenal gland pheochromocytoma ClinVar PMID:25741868 NCBI chr 5:164,890,778...165,025,848
Ensembl chr 5:159,561,271...159,742,778
JBrowse link
adrenocortical carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12015757 NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Adrenal cortex carcinoma | ClinVar Annotator: match by term: Adrenocortical carcinoma ClinVar PMID:15591283 PMID:18409179 PMID:23681356 PMID:28492532 NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535
JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 exacerbates ISO mRNA:increased expression:adrenal gland (human) RGD PMID:31964418 RGD:153344516 NCBI chr 8:13,253,697...13,273,672
Ensembl chr 8:4,968,842...4,988,732
JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ameliorates ISO mRNA:increased expression:adrenal gland (human) RGD PMID:31964418 RGD:153344516 NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:5,000,845...5,015,802
JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 exacerbates ISO mRNA:increased expression:adrenal gland (human) RGD PMID:31964418 RGD:153344516 NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380
JBrowse link
G Birc6 baculoviral IAP repeat-containing 6 exacerbates ISO mRNA:increased expression:adrenal gland (human) RGD PMID:31964418 RGD:153344516 NCBI chr 6:26,474,843...26,668,275
Ensembl chr 6:20,722,922...20,916,434
JBrowse link
G Birc7 baculoviral IAP repeat-containing 7 ameliorates ISO mRNA:increased expression:adrenal gland (human) RGD PMID:31964418 RGD:153344516 NCBI chr 3:188,425,392...188,430,174
Ensembl chr 3:168,047,824...168,052,606
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23585556 NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Bsg basigin ISO CTD Direct Evidence: marker/mechanism CTD PMID:36574092 NCBI chr 7:10,643,788...10,651,005
Ensembl chr 7:9,993,170...10,000,387
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Adrenal cortex carcinoma ClinVar PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 PMID:11461078 More... NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Daxx death-domain associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr20:4,971,973...4,978,062
Ensembl chr20:4,970,092...4,975,843
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23585556 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22407999 NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Igf2 insulin-like growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21521927 PMID:23417626 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018
JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
G Men1 menin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Rrm1 ribonucleotide reductase catalytic subunit M1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22547773 NCBI chr 1:166,235,904...166,260,206
Ensembl chr 1:156,823,960...156,848,261
JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:22156929 NCBI chr10:40,017,065...40,038,816
Ensembl chr10:39,516,406...39,538,396
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Top2a DNA topoisomerase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:23533247 NCBI chr10:84,441,954...84,473,093
Ensembl chr10:83,945,735...83,976,874
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adrenal cortex carcinoma | ClinVar Annotator: match by term: Adrenocortical carcinoma
CTD
ClinVar
PMID:1349102 PMID:1565143 PMID:1683921 PMID:1849234 PMID:1978757 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Xiap X-linked inhibitor of apoptosis ameliorates ISO mRNA:increased expression:adrenal gland (human) RGD PMID:31964418 RGD:153344516 NCBI chr  X:125,756,107...125,803,979
Ensembl chr  X:120,897,907...120,934,700
JBrowse link
G Znrf3 zinc and ring finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747642 NCBI chr14:84,375,668...84,527,465
Ensembl chr14:80,160,278...80,313,485
JBrowse link
Hereditary Adrenocortical Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lyst lysosomal trafficking regulator ISO ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary ClinVar PMID:25741868 NCBI chr17:93,225,509...93,427,650
Ensembl chr17:86,241,384...86,443,480
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary
CTD
ClinVar
OMIM
PMID:224644 PMID:253702 PMID:1200021 PMID:1349175 PMID:1394133 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
JBrowse link
Pediatric Adrenocortical Carcinoma term browser
Symbol Object Name Qualifiers 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:9582268 PMID:9704930 PMID:9704931 PMID:10864200 PMID:11481490 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      endocrine system disease 7039
        Endocrine Gland Neoplasms 2828
          Adrenal Gland Neoplasms 45
            Adrenal Cortex Neoplasms + 37
            Adrenal Incidentaloma 0
            Adrenal Medullary Hyperplasia 0
            Neural Crest Tumor 0
            Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome 0
            adrenal gland cancer + 30
paths to the root