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 chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Eno2
enolase 2
ISO
RGD
PMID:17345775
RGD:2293739
NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
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Men1
menin 1
ISO
DNA:loss of heterozygosity:lung:PYGM,D11S449,D11S906(human)
RGD
PMID:16465412
RGD:2317351
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:12584572
RGD:2317635
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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Mir10a
microRNA 10a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280
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Mir127
microRNA 127
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 6:128,546,215...128,546,311
Ensembl chr 6:128,546,215...128,546,311
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Mir136
microRNA 136
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 6:128,549,096...128,549,177
Ensembl chr 6:128,549,096...128,549,177
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Mir146a
microRNA 146a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Mir154
microRNA 154
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 6:128,752,947...128,753,030
Ensembl chr 6:128,752,947...128,753,030
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Mir155
microRNA 155
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir193a
microRNA 193a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
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Mir222
microRNA 222
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
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Mir224
microRNA 224
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr X:150,065,088...150,065,169
Ensembl chr X:150,065,088...150,065,169
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Mir30a
microRNA 30a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
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Mir34b
microRNA 34b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
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Mir34c
microRNA 34c
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
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Mir370
microRNA 370
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 6:128,572,257...128,572,335
Ensembl chr 6:128,572,257...128,572,335
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Mir409
microRNA 409
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 6:128,757,780...128,757,856
Ensembl chr 6:128,757,779...128,757,858
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Mir410
microRNA 410
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 6:128,758,358...128,758,433
Ensembl chr 6:128,758,354...128,758,434
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Mir487b
microRNA 487b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 6:128,741,485...128,741,566
Ensembl chr 6:128,741,485...128,741,566
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Mir494
microRNA 494
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793
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Reg1a
regenerating family member 1 alpha
ISO
associated with Hypergastrinemia;DNA:missense mutations:cds:multiple (human)
RGD
PMID:10348814
RGD:9850135
NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
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Nap1l1
nucleosome assembly protein 1-like 1
ISO
mRNA:increased expression:intestinal mucosa (human)
RGD
PMID:16424981
RGD:9590082
NCBI chr 7:46,933,278...46,957,853
Ensembl chr 7:46,933,356...46,956,593
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Sdhd
succinate dehydrogenase complex subunit D
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 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238
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Atrx
ATRX, chromatin remodeler
disease_progression
ISO
protein:decreased expression:nucleus, lung
RGD
PMID:31499081
RGD:127285379
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Col4a3
collagen type IV alpha 3 chain
severity
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:25105010
RGD:151660336
NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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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 4:82,393,091...82,794,320
Ensembl chr 4:82,393,730...82,790,325
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Men1
menin 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 chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Ptprb
protein tyrosine phosphatase, receptor type, B
severity
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:25105010
RGD:151660336
NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748
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