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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:thyroid gland papillary carcinoma
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Accession:DOID:3969 term browser browse the term
Definition:A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland. (DO)
Synonyms:exact_synonym: NONMEDULLARY THYROID CARCINOMA, PAPILLARY;   Nonmedullary Thyroid Carcinoma;   PACT;   PTC;   TPC;   familial nonmedullary thyroid cancer;   papillary carcinoma of the thyroid gland;   papillary carcinoma of thyroid;   papillary familial nonmedullary thyroid cancer;   papillary thyroid cancer;   papillary thyroid carcinoma
 primary_id: MESH:D000077273
 xref: EFO:0000641;   GARD:12027;   NCI:C4035;   OMIM:PS188550
For additional species annotation, visit the Alliance of Genome Resources.

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thyroid gland papillary carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase susceptibility ISO associated with Radiation-Induced Neoplasms;DNA:SNPs,haplotypes:exon 39,intron 22,intron 48: p.D1853N, IVS22-77 T>C, IVS48 + 238 C>G (rs1801516, rs664677, rs609429)
ClinVar Annotator: match by term: Papillary thyroid carcinoma		 RGD
ClinVar		 PMID:19286843 PMID:19404735 PMID:20305132 PMID:23555315 PMID:25186627 More... RGD:401850780 NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520 		JBrowse link
G BEGAIN brain enriched guanylate kinase associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr24:78,501,920...78,552,954
Ensembl chr24:78,501,870...78,511,496 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase onset ISO DNA:mutation:cds:p.V600E(human)
ClinVar Annotator: match by term: Papillary thyroid carcinoma		 RGD
ClinVar		 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... RGD:7241798 NCBI chr21:109,495,525...109,690,261 JBrowse link
G BRD4 bromodomain containing 4 ISO mRNA, protein:increased expression:thyroid RGD PMID:26707881 RGD:11085509 NCBI chr 6:13,836,332...13,883,459
Ensembl chr 6:13,836,324...13,873,877 		JBrowse link
G CAMK2N1 calcium/calmodulin dependent protein kinase II inhibitor 1 ISO mRNA:increased expression:thyroid gland RGD PMID:23569218 RGD:18337285 NCBI chr20:112,064,718...112,068,505
Ensembl chr20:112,065,581...112,067,256 		JBrowse link
G CAT catalase ISO protein:increased activity:plasma: RGD PMID:20204550 RGD:9068926 NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592 		JBrowse link
G CBX7 chromobox 7 ISO mRNA,protein,DNA:decreased expression, loss of heterozygosity:thyroid gland:
mRNA:decreased expression:thyroid gland (mouse)		 RGD PMID:18701502 RGD:9587357 NCBI chr19:21,776,618...21,798,525
Ensembl chr19:21,775,931...21,798,309 		JBrowse link
G CCDC6 coiled-coil domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 9:71,382,842...71,501,589
Ensembl chr 9:71,383,032...71,497,403 		JBrowse link
G CCND1 cyclin D1 ISO mRNA:increased expression:thyroid RGD PMID:28677753 RGD:13792605 NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357 		JBrowse link
G CTNNB1 catenin beta 1 disease_progression ISO mRNA:increased expression:thyroid RGD PMID:28677753 PMID:29498921 RGD:13792558 RGD:13792605 NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949 		JBrowse link
G CUNH11orf65 chromosome unknown C11orf65 homolog ISO ClinVar Annotator: match by term: Papillary thyroid carcinoma ClinVar PMID:19404735 PMID:20305132 PMID:23555315 PMID:25186627 PMID:25741868 More... NCBI chr 1:99,804,191...99,879,834
Ensembl chr 1:99,804,218...99,827,182 		JBrowse link
G DIO3 iodothyronine deiodinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr24:79,538,264...79,544,448 JBrowse link
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr24:79,915,719...80,008,666
Ensembl chr24:79,915,889...80,000,099 		JBrowse link
G KMT2D lysine methyltransferase 2D ISO associated with familial adenomatous polyposis;DNA:missense mutations, nonsense mutation RGD PMID:32024448 RGD:150523759 NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423 		JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO mRNA:increased expression:thyroid RGD PMID:28677753 RGD:13792605 NCBI chr 7:55,974,770...56,096,214
Ensembl chr 7:55,990,621...56,094,110 		JBrowse link
G LIG4 DNA ligase 4 ISO ClinVar Annotator: match by term: Papillary thyroid carcinoma ClinVar PMID:25741868 NCBI chr 3:86,576,200...86,587,097
Ensembl chr 3:86,577,304...86,580,039 		JBrowse link
G LOC103233229 cadherin-1 ISO DNA:hypermethylation:promoter RGD PMID:25520863 RGD:13792554 NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:thyroid RGD PMID:28677753 RGD:13792605 NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384 		JBrowse link
G NKX2-1 NK2 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr24:13,274,118...13,317,533
Ensembl chr24:13,310,846...13,317,056 		JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Papillary thyroid carcinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:21,322,952...21,358,363
Ensembl chr 5:21,322,975...21,358,198 		JBrowse link
G PLAU plasminogen activator, urokinase severity ISO mRNA:increased expression:thyroid gland (human) RGD PMID:22702340 RGD:7241798 NCBI chr 9:57,452,904...57,459,345
Ensembl chr 9:57,452,761...57,459,286 		JBrowse link
G PPP2R5C protein phosphatase 2 regulatory subunit B'gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr24:79,703,316...79,875,379
Ensembl chr24:79,703,312...79,875,389 		JBrowse link
G RAP1GAP RAP1 GTPase activating protein ISO protein:decreased expression:thyroid gland (human) RGD PMID:19066305 RGD:9835342 NCBI chr20:110,967,457...111,040,940
Ensembl chr20:110,987,308...111,040,947 		JBrowse link
G RET ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 9:38,746,088...38,798,773
Ensembl chr 9:38,769,170...38,796,712 		JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO DNA:hypermethylation:promoter RGD PMID:25520863 RGD:13792554 NCBI chr20:107,769,244...107,802,154
Ensembl chr20:107,736,683...107,802,307 		JBrowse link
G RXRG retinoid X receptor gamma ISO mRNA:increased expression:thyroid RGD PMID:28677753 RGD:13792605 NCBI chr25:63,444,128...63,490,594
Ensembl chr25:63,443,944...63,490,635 		JBrowse link
G SNAI1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 2:13,988,059...13,993,780
Ensembl chr 2:13,988,024...13,993,746 		JBrowse link
G SNAI2 snail family transcriptional repressor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 8:45,043,381...45,047,054
Ensembl chr 8:45,043,393...45,046,978 		JBrowse link
G TP53 tumor protein p53 susceptibility ISO associated with Radiation-Induced Neoplasms;DNA:SNPs, haplotypes:exon 4: p.R72P (rs1042522) (human) RGD PMID:19286843 RGD:401850780 NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223 		JBrowse link
G TPM3 tropomyosin 3 ISO mRNA:increased expression:thyroid RGD PMID:28677753 RGD:13792605 NCBI chr20:9,630,056...9,669,819
Ensembl chr20:9,638,678...9,653,039 		JBrowse link
G WARS1 tryptophanyl-tRNA synthetase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr24:78,296,154...78,340,683
Ensembl chr24:78,295,741...78,339,732 		JBrowse link
G WDR20 WD repeat domain 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr24:80,064,362...80,152,706
Ensembl chr24:80,064,421...80,152,881 		JBrowse link
G WDR3 WD repeat domain 3 susceptibility ISO DNA:snps, haplotype:introns: c.500+239G>A, c.*1-2382A>C (rs3765501, rs4658973) (human) RGD PMID:20578902 RGD:11041898 NCBI chr20:15,773,294...15,803,157
Ensembl chr20:15,772,511...15,799,581 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility ISO DNA:SNP:exon 10: p.R399Q (rs25487) (Human) RGD PMID:19286843 RGD:401850780 NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094 		JBrowse link
G ZEB1 zinc finger E-box binding homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr 9:30,674,893...30,862,682
Ensembl chr 9:30,674,578...30,863,250 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28030816 NCBI chr10:29,732,934...29,864,157
Ensembl chr10:29,729,305...29,864,205 		JBrowse link
Thyroid Cancer, Nonmedullary, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXE1 forkhead box E1 ISO ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 4 OMIM
ClinVar		 PMID:25381600 PMID:25741868 PMID:28444304 PMID:32428920 NCBI chr12:41,555,901...41,559,914
Ensembl chr12:41,557,568...41,558,686 		JBrowse link
Thyroid Cancer, Nonmedullary, 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HABP2 hyaluronan binding protein 2 susceptibility ISO ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 5 ClinVar
OMIM		 PMID:12138371 PMID:12578864 PMID:15486068 PMID:25741868 PMID:26222560 More... NCBI chr 9:106,435,439...106,472,967
Ensembl chr 9:106,436,685...106,474,544 		JBrowse link
Thyroid Carcinoma, Nonmedullary 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 ClinVar NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191 		JBrowse link
G NKX2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 OMIM
ClinVar		 PMID:19176457 PMID:25741868 PMID:28492532 NCBI chr24:13,274,118...13,317,533
Ensembl chr24:13,310,846...13,317,056 		JBrowse link
G PCM1 pericentriolar material 1 ISO ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 ClinVar PMID:10980597 PMID:25741868 NCBI chr 8:16,018,414...16,124,846
Ensembl chr 8:16,017,972...16,125,145 		JBrowse link
G RINT1 RAD50 interactor 1 ISO ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1 ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:31204009 PMID:33471991 NCBI chr21:74,454,916...74,491,057
Ensembl chr21:74,454,947...74,490,768 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    disease of cellular proliferation 7115
      cancer 5154
        cell type cancer 3540
          carcinoma 2990
            adenocarcinoma 1559
              thyroid gland adenocarcinoma 46
                differentiated thyroid gland carcinoma 46
                  thyroid gland papillary carcinoma 41
                    Papillary Thyroid Carcinoma, with Papillary Renal Neoplasia 0
                    Papillary Thyroid Microcarcinoma 0
                    Thyroid Cancer, Nonmedullary, 4 1
                    Thyroid Cancer, Nonmedullary, 5 1
                    Thyroid Carcinoma, Nonmedullary 1 4
                    columnar cell variant papillary carcinoma 0
                    multicentric papillary thyroid carcinoma 0
                    nonencapsulated sclerosing carcinoma 0
                    papillary follicular thyroid adenocarcinoma 0
                    tall cell variant papillary carcinoma 0
Path 2
Term Annotations click to browse term
  disease 15274
    disease of cellular proliferation 7115
      cancer 5154
        organ system cancer 4925
          endocrine gland cancer 2289
            thyroid cancer 74
              thyroid gland carcinoma 63
                thyroid gland adenocarcinoma 46
                  differentiated thyroid gland carcinoma 46
                    thyroid gland papillary carcinoma 41
                      Papillary Thyroid Carcinoma, with Papillary Renal Neoplasia 0
                      Papillary Thyroid Microcarcinoma 0
                      Thyroid Cancer, Nonmedullary, 4 1
                      Thyroid Cancer, Nonmedullary, 5 1
                      Thyroid Carcinoma, Nonmedullary 1 4
                      columnar cell variant papillary carcinoma 0
                      multicentric papillary thyroid carcinoma 0
                      nonencapsulated sclerosing carcinoma 0
                      papillary follicular thyroid adenocarcinoma 0
                      tall cell variant papillary carcinoma 0
paths to the root