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: Lung Carcinoid Tumors
Accession: DOID:9006608
browse the term
Synonyms: exact_synonym: Lung Carcinoid Neoplasm; Lung Carcinoid Tumor; PCT; carcinoid tumor of lung; pulmonary carcinoid neoplasm; pulmonary carcinoid tumor
xref: EFO:1000037 ; NCI:C4038
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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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