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: Carcinoid Tumor
Accession: DOID:9007787
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Definition: A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182)
Synonyms: exact_synonym: Argentaffinoma; Carcinoid; Carcinoid Tumors; Carcinoids; Goblet Cell Carcinoid; argentaffinomas; goblet cell carcinoids
narrow_synonym: Atypical Carcinoid Tumor
primary_id: MESH:D002276
xref: EFO:0004243 ; EFO:1000097
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Alb
albumin
ISO
protein:decreased expression:serum:
RGD
PMID:975003
RGD:11036087
NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
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Eno2
enolase 2, gamma neuronal
ISO
RGD
PMID:17345775
RGD:2293739
NCBI chr 6:124,737,018...124,746,489
Ensembl chr 6:124,737,016...124,746,636
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Men1
multiple endocrine neoplasia 1
ISO
DNA:loss of heterozygosity:lung:PYGM,D11S449,D11S906(human)
RGD
PMID:16465412
RGD:2317351
NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:12584572
RGD:2317635
NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995
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Mir10a
microRNA 10a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr11:96,207,991...96,208,100
Ensembl chr11:96,207,991...96,208,100
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Mir127
microRNA 127
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr12:109,559,280...109,559,349
Ensembl chr12:109,559,280...109,559,349
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Mir136
microRNA 136
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr12:109,561,761...109,561,822
Ensembl chr12:109,561,761...109,561,822
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Mir146
microRNA 146
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr11:43,265,224...43,265,288
Ensembl chr11:43,265,224...43,265,288
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Mir154
microRNA 154
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr12:109,704,867...109,704,932
Ensembl chr12:109,704,867...109,704,932
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Mir155
microRNA 155
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
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Mir193a
microRNA 193a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr11:79,602,795...79,602,860
Ensembl chr11:79,602,795...79,602,860
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Mir222
microRNA 222
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr X:19,013,132...19,013,210
Ensembl chr X:19,013,132...19,013,210
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Mir224
microRNA 224
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr X:71,304,637...71,304,718
Ensembl chr X:71,304,637...71,304,718
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Mir302d
microRNA 302d
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 3:127,339,273...127,339,338
Ensembl chr 3:127,339,273...127,339,338
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Mir30a
microRNA 30a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 1:23,311,350...23,311,420
Ensembl chr 1:23,311,350...23,311,420
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Mir34b
microRNA 34b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 9:51,014,862...51,014,945
Ensembl chr 9:51,014,862...51,014,945
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Mir34c
microRNA 34c
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 9:51,014,334...51,014,410
Ensembl chr 9:51,014,334...51,014,410
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Mir369
microRNA 369
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr12:109,709,852...109,709,930
Ensembl chr12:109,709,852...109,709,930
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Mir370
microRNA 370
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr12:109,584,692...109,584,770
Ensembl chr12:109,584,692...109,584,770
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Mir409
microRNA 409
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr12:109,709,592...109,709,670
Ensembl chr12:109,709,592...109,709,670
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Mir410
microRNA 410
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr12:109,710,149...109,710,229
Ensembl chr12:109,710,149...109,710,229
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Mir432
microRNA 432
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr12:109,561,390...109,561,464
Ensembl chr12:109,561,390...109,561,464
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Mir487b
microRNA 487b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr12:109,693,767...109,693,848
Ensembl chr12:109,693,767...109,693,848
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Mir494
microRNA 494
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr12:109,681,752...109,681,836
Ensembl chr12:109,681,752...109,681,836
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Mir511
microRNA 511
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 2:14,265,814...14,265,892
Ensembl chr 2:14,265,814...14,265,892
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Reg1
regenerating islet-derived 1
ISO
associated with Hypergastrinemia;DNA:missense mutations:cds:multiple (human)
RGD
PMID:10348814
RGD:9850135
NCBI chr 6:78,402,966...78,405,651
Ensembl chr 6:78,399,694...78,405,650
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Nap1l1
nucleosome assembly protein 1-like 1
ISO
mRNA:increased expression:intestinal mucosa (human)
RGD
PMID:16424981
RGD:9590082
NCBI chr10:111,308,754...111,334,011
Ensembl chr10:111,309,084...111,334,011
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Sdhd
succinate dehydrogenase complex, subunit D, integral membrane protein
ISO
ClinVar Annotator: match by term: Carcinoid tumors, intestinal
ClinVar
PMID:12007193 PMID:12111639 PMID:12386824 PMID:12696072 PMID:14557476 PMID:15623805 PMID:18678321 PMID:21565294 PMID:21979946 PMID:22703879 PMID:23175444 PMID:24728327 PMID:25149476 PMID:25694510 PMID:25695889 PMID:25741868 PMID:26467025 PMID:27279923 PMID:28128698 PMID:28164237 PMID:28492532 PMID:29386252 PMID:29792313 PMID:34906457 PMID:35626065 PMID:35938916 More...
NCBI chr 9:50,507,640...50,515,149
Ensembl chr 9:50,507,657...50,515,112
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Atrx
ATRX, chromatin remodeler
disease_progression
ISO
protein:decreased expression:nucleus, lung
RGD
PMID:31499081
RGD:127285379
NCBI chr X:104,841,221...104,972,978
Ensembl chr X:104,841,221...104,973,009
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Col4a3
collagen, type IV, alpha 3
severity
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:25105010
RGD:151660336
NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780
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Creb5
cAMP responsive element binding protein 5
severity
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:25105010
RGD:151660336
NCBI chr 6:53,264,154...53,677,349
Ensembl chr 6:53,264,255...53,677,361
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Men1
multiple endocrine neoplasia 1
ISO
ClinVar Annotator: match by term: Lung carcinoid tumor
ClinVar
PMID:9215689 PMID:9361035 PMID:9463336 PMID:9709921 PMID:11303512 PMID:11579199 PMID:12112656 PMID:12213668 PMID:14985373 PMID:15240620 PMID:15635078 PMID:15670192 PMID:17065424 PMID:17623761 PMID:17853334 PMID:17879353 PMID:19041010 PMID:20833329 PMID:21340156 PMID:22470073 PMID:23321498 PMID:24915123 PMID:25291050 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29036195 PMID:30324798 PMID:30339208 PMID:32299109 PMID:34160414 PMID:35696052 More...
NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
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Ptprb
protein tyrosine phosphatase receptor type B
severity
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:25105010
RGD:151660336
NCBI chr10:116,111,407...116,225,443
Ensembl chr10:116,111,428...116,225,440
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