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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:neuroendocrine carcinoma
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Accession:DOID:1800 term browser browse the term
Definition:A carcinoma that derives_from neuroendocrine cells. (DO)
Synonyms:exact_synonym: neuroendocrine carcinomas
 primary_id: MESH:D018278
 xref: NCI:C3773
For additional species annotation, visit the Alliance of Genome Resources.


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neuroendocrine carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eno2 enolase 2 ISO RGD PMID:15010880 RGD:2293735 NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047
JBrowse link
familial medullary thyroid carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma ClinVar NCBI chr 2:187,161,817...187,181,400
Ensembl chr 2:187,162,017...187,181,395
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma ClinVar PMID:10330344, PMID:10443680, PMID:11139246, PMID:11159935, PMID:11719521, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Prlr prolactin receptor ISS OMIM:155240 MouseDO NCBI chr 2:60,131,410...60,325,686
Ensembl chr 2:60,131,776...60,325,692
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma
ClinVar Annotator: match by term: MEN2A and FMTC
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:3078962, PMID:3697657, PMID:7633441, PMID:7647787, PMID:7784092, PMID:7824936, PMID:7845675, PMID:7849720, PMID:7874109, PMID:7881414, PMID:7907913, PMID:7911697, PMID:7915165, PMID:8099202, PMID:8103403, PMID:8114940, PMID:8557249, PMID:8625130, PMID:8675603, PMID:8797874, PMID:8807338, PMID:8855832, PMID:8918855, PMID:9003111, PMID:9090527, PMID:9111992, PMID:9146685, PMID:9174404, PMID:9230192, PMID:9242375, PMID:9259198, PMID:9263528, PMID:9384613, PMID:9398735, PMID:9452077, PMID:9498388, PMID:9506724, PMID:9681851, PMID:9681852, PMID:9727738, PMID:9745455, PMID:9760196, PMID:9839497, PMID:9879991, PMID:10024437, PMID:10076558, PMID:10235148, PMID:10323403, PMID:10445857, PMID:10462620, PMID:10490816, PMID:10549772, PMID:10646792, PMID:10777380, PMID:10876191, PMID:10982477, PMID:11114642, PMID:11230481, PMID:11454140, PMID:11524247, PMID:11562352, PMID:11589684, PMID:11739416, PMID:11900218, PMID:11932300, PMID:11935126, PMID:12000816, PMID:12116277, PMID:12193298, PMID:12205548, PMID:12409662, PMID:12490841, PMID:12566528, PMID:12604374, PMID:12686527, PMID:12694233, PMID:12864791, PMID:14517954, PMID:14561794, PMID:14566559, PMID:14602786, PMID:14633923, PMID:14715928, PMID:14718397, PMID:15164440, PMID:15184865, PMID:15240641, PMID:15277225, PMID:15292360, PMID:15452453, PMID:15531714, PMID:15699703, PMID:15741265, PMID:15753368, PMID:15771139, PMID:15855933, PMID:15858153, PMID:15870131, PMID:16118333, PMID:16314641, PMID:16343097, PMID:16388093, PMID:16441254, PMID:16469774, PMID:16507829, PMID:16532227, PMID:16649977, PMID:16705552, PMID:16707008, PMID:16712668, PMID:16715139, PMID:16736292, PMID:16813623, PMID:16865646, PMID:16865647, PMID:16868135, PMID:16928683, PMID:17021738, PMID:17047083, PMID:17097365, PMID:17102091, PMID:17178962, PMID:17188172, PMID:17209045, PMID:17483988, PMID:17610518, PMID:17704047, PMID:17895320, PMID:18058472, PMID:18062802, PMID:18063059, PMID:18805915, PMID:19138318, PMID:19469690, PMID:19472011, PMID:19826964, PMID:19906784, PMID:20080836, PMID:20087666, PMID:20103606, PMID:20497437, PMID:20516206, PMID:20554711, PMID:20739875, PMID:20833330, PMID:20979234, PMID:20981092, PMID:21254918, PMID:21311890, PMID:21422799, PMID:21626080, PMID:21655256, PMID:21678021, PMID:21688339, PMID:21690267, PMID:21765987, PMID:21810974, PMID:21834681, PMID:21986619, PMID:21995290, PMID:22068382, PMID:22403753, PMID:22584710, PMID:22676047, PMID:22703879, PMID:22729463, PMID:22837065, PMID:22965292, PMID:22995991, PMID:23084198, PMID:23210566, PMID:23295303, PMID:23461807, PMID:23527089, PMID:23723040, PMID:23745650, PMID:23756355, PMID:24033266, PMID:24064755, PMID:24152999, PMID:24361808, PMID:24375508, PMID:24449023, PMID:24569963, PMID:24616773, PMID:24617864, PMID:24684035, PMID:24716929, PMID:24728327, PMID:24805091, PMID:24845513, PMID:25157968, PMID:25319874, PMID:25374962, PMID:25425582, PMID:25440022, PMID:25628771, PMID:25629635, PMID:25637381, PMID:25694125, PMID:25741868, PMID:25767701, PMID:25810047, PMID:25887804, PMID:25950813, PMID:26046350, PMID:26247112, PMID:26269449, PMID:26356818, PMID:26467025, PMID:27153395, PMID:27673361, PMID:27809725, PMID:27884173, PMID:27994876, PMID:28323957, PMID:28492532, PMID:28647780, PMID:28946813, PMID:28951487, PMID:29097883, PMID:29408964, PMID:29656518, PMID:29684080, PMID:30311386, PMID:30644554, PMID:30927507, PMID:31510104 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
lung small cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy1 adenylate cyclase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr14:87,311,970...87,429,880
Ensembl chr14:87,312,203...87,421,659
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Small cell lung cancer ClinVar PMID:17611497, PMID:18256540, PMID:18392055, PMID:18504432, PMID:18611285, PMID:19418217, PMID:19487299, PMID:19853286, PMID:20233444, PMID:20453058, PMID:21464312, PMID:21512767, PMID:21793738, PMID:22538770, PMID:22610119, PMID:22722201, PMID:22722839, PMID:22980975, PMID:23237847, PMID:23348505, PMID:23700467, PMID:23728071, PMID:23934607, PMID:24190505, PMID:24657128, PMID:25157968, PMID:26619011, PMID:28492532 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Ascl1 achaete-scute family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26253517 NCBI chr 7:28,038,662...28,040,504
Ensembl chr 7:28,038,662...28,040,510
JBrowse link
G Avp arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2832203 NCBI chr 3:123,117,482...123,119,460
Ensembl chr 3:123,117,492...123,119,460
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Small cell lung cancer ClinVar PMID:26619011 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Bcl2 BCL2, apoptosis regulator susceptibility ISO DNA:SNP: :rs2279115(human) RGD PMID:26311051 RGD:13673911 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 1:15,799,753...15,828,838
Ensembl chr 1:15,782,477...15,860,624
JBrowse link
G Ccnd1 cyclin D1 disease_progression ISO DNA:snp:exon:c.870G>A (human) RGD PMID:29739297 RGD:13673912 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO protein:increased expression:lung RGD PMID:9500468 RGD:13673920 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Cdyl chromodomain Y-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr17:29,672,925...29,895,416
Ensembl chr17:29,674,164...29,895,386
JBrowse link
G Ckb creatine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:2828370 NCBI chr 6:136,142,956...136,145,838
Ensembl chr 6:136,142,956...136,145,837
JBrowse link
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 4:74,700,539...77,025,463 JBrowse link
G Col22a1 collagen type XXII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 7:113,014,896...113,251,165
Ensembl chr 7:113,015,747...113,228,439
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9093707 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Dip2c disco-interacting protein 2 homolog C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr17:63,426,688...63,810,183
Ensembl chr17:63,635,086...63,808,464
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta susceptibility ISO DNA:SNPs:promoter:-283T >C,-579G>T(human) RGD PMID:15528220 RGD:9589086 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G E2f1 E2F transcription factor 1 disease_progression
treatment
ISO mRNA, protein:increased expression:lung RGD PMID:24755270, PMID:11313916, PMID:23792570 RGD:13464335, RGD:13464344, RGD:13464337 NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20837450 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Elavl2 ELAV like RNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 5:109,499,410...109,651,829
Ensembl chr 5:109,499,408...109,651,730
JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Epha7 Eph receptor A7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 5:43,602,744...43,761,198
Ensembl chr 5:43,603,043...43,757,549
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Grik3 glutamate ionotropic receptor kainate type subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 5:143,500,441...143,715,546
Ensembl chr 5:143,500,441...143,715,546
JBrowse link
G Grm8 glutamate metabotropic receptor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 4:54,474,344...55,409,526
Ensembl chr 4:54,474,136...55,407,922
JBrowse link
G Id2 inhibitor of DNA binding 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr 6:44,360,077...44,361,908
Ensembl chr 6:44,348,501...44,363,915
JBrowse link
G Insm1 INSM transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr 3:140,427,961...140,430,467 JBrowse link
G Itgb1 integrin subunit beta 1 disease_progression
treatment
ISO RGD PMID:21063403, PMID:12168902 RGD:13792831, RGD:13792832 NCBI chr19:61,677,512...61,725,537
Ensembl chr19:61,677,542...61,725,535
JBrowse link
G Khsrp KH-type splicing regulatory protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 9:10,013,795...10,023,670
Ensembl chr 9:10,013,854...10,022,924
JBrowse link
G Kif21a kinesin family member 21A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 7:132,069,962...132,200,947
Ensembl chr 7:132,071,116...132,143,470
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15499612 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
JBrowse link
G Lama3 laminin subunit alpha 3 ISO DNA:hyper-methylation:promoter: RGD PMID:12855645 RGD:13793369 NCBI chr18:3,704,866...3,941,215
Ensembl chr18:3,705,916...3,940,838
JBrowse link
G Lamb3 laminin subunit beta 3 ISO DNA:hyper-methylation:promoter: RGD PMID:12855645 RGD:13793369 NCBI chr13:112,031,614...112,073,187
Ensembl chr13:112,031,594...112,073,186
JBrowse link
G Lamc2 laminin subunit gamma 2 ISO DNA:hyper-methylation:promoter: RGD PMID:12855645 RGD:13793369 NCBI chr13:70,566,643...70,632,126
Ensembl chr13:70,566,643...70,626,252
JBrowse link
G Lyrm9 LYR motif containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr10:66,099,478...66,113,559
Ensembl chr10:66,099,531...66,113,559
JBrowse link
G Max MYC associated factor X ISO DNA:loss of heterozygosity:lung RGD PMID:24362264 RGD:13793386 NCBI chr 6:99,984,260...100,011,460
Ensembl chr 6:99,984,260...100,011,388
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO protein:missense mutation:cds:p.A222V (human) RGD PMID:17533396 RGD:4891158 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtor mechanistic target of rapamycin kinase disease_progression ISO DNA:SNP: :rs2536(human) RGD PMID:28280736 RGD:13825123 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:28089889 RGD:13793389 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Mycl MYCL proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: therapeutic CTD PMID:22941189 NCBI chr 5:140,691,947...140,698,837
Ensembl chr 5:140,692,779...140,698,609
JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 7:107,734,326...107,775,701
Ensembl chr 7:107,734,323...107,775,714
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Small cell lung cancer ClinVar PMID:15016963, PMID:15254419, PMID:15520168, PMID:15608678, PMID:15647370, PMID:15805248, PMID:16847462, PMID:16906227, PMID:16930767, PMID:17376864, PMID:17673550, PMID:18676830, PMID:18725974, PMID:19029981, PMID:19223544, PMID:19366826, PMID:19513541, PMID:19903786, PMID:20453058, PMID:20619739, PMID:21430269, PMID:21558396, PMID:22162582, PMID:22162589, PMID:22228622, PMID:22271473, PMID:22357840, PMID:22658544, PMID:22729223, PMID:22729224, PMID:23066039, PMID:23246288, PMID:23408298, PMID:23754335, PMID:23888070, PMID:24033266, PMID:24265155, PMID:24497998, PMID:24559322, PMID:25157968, PMID:25557259, PMID:26301495, PMID:26593112, PMID:26619011, PMID:26851524, PMID:27426476, PMID:27631024, PMID:27870750, PMID:28941273, PMID:29446767 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 disease_progression ISO DNA:SNPs: :rs3756668,rs12755(human) RGD PMID:28280736 RGD:13825123 NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
JBrowse link
G Plscr4 phospholipid scramblase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 8:99,880,073...99,917,733
Ensembl chr 8:99,880,073...99,918,825
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Small cell lung cancer
CTD
ClinVar
PMID:9467011, PMID:9915974, PMID:10866302, PMID:11504908, PMID:11875759, PMID:16773562, PMID:17526801, PMID:17942903, PMID:18767981, PMID:19457929, PMID:20085938, PMID:20300775, PMID:21659347, PMID:21822720, PMID:21824802, PMID:21828076, PMID:22266152, PMID:22320991, PMID:22327138, PMID:22595938, PMID:22941188, PMID:23335809, PMID:23399955, PMID:23470840, PMID:24778394, PMID:25157968, PMID:25527629, PMID:25741868, PMID:26619011, PMID:26798346, PMID:27477328, PMID:27535533, PMID:28475857, PMID:28492532, PMID:29359449, PMID:29706350 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Ptk2 protein tyrosine kinase 2 disease_progression ISO DNA:CNV:: RGD PMID:21800286, PMID:20802517 RGD:13825133, RGD:13825141 NCBI chr 7:114,436,419...114,611,317
Ensembl chr 7:114,437,361...114,590,119
JBrowse link
G Rarb retinoic acid receptor, beta ISO DNA:methylation: : RGD PMID:29851970 RGD:13825142 NCBI chr15:9,915,223...10,262,599
Ensembl chr15:10,120,206...10,262,599
JBrowse link
G Rassf8 Ras association domain family member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 4:180,059,020...180,135,924
Ensembl chr 4:180,062,799...180,135,966
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Small cell lung carcinoma
ClinVar Annotator: match by term: Small cell lung cancer
CTD
ClinVar
PMID:1352883, PMID:2594029, PMID:7881418, PMID:9632788, PMID:9671401, PMID:10486322, PMID:10966849, PMID:12541220, PMID:15643604, PMID:16269091, PMID:16449662, PMID:17096365, PMID:18677112, PMID:18682685, PMID:20041224, PMID:22941188, PMID:22941189, PMID:23532519, PMID:24225018, PMID:24688104, PMID:25157968, PMID:25741868, PMID:26925970, PMID:28492532, PMID:28575107, PMID:28724667 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Rims2 regulating synaptic membrane exocytosis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 7:78,091,998...78,594,164
Ensembl chr 7:78,092,037...78,594,138
JBrowse link
G Runx1t1 RUNX1 partner transcriptional co-repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 5:27,284,921...27,440,802
Ensembl chr 5:27,312,928...27,442,841
JBrowse link
G Satb2 SATB homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 9:63,456,877...63,642,193
Ensembl chr 9:63,456,783...63,641,400
JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO mRNA:increased expression:lung: RGD PMID:12107105 RGD:13825152 NCBI chr 2:58,506,146...58,534,211
Ensembl chr 2:58,506,151...58,534,211
JBrowse link
G Slit2 slit guidance ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr14:66,831,848...67,171,491
Ensembl chr14:66,831,848...67,170,361
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26343384 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
JBrowse link
G Tmem132d transmembrane protein 132D ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr12:31,934,343...32,607,768
Ensembl chr12:31,934,343...32,607,370
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Small cell lung cancer
ClinVar Annotator: match by term: Small cell lung carcinoma
CTD
ClinVar
PMID:1359493, PMID:1565143, PMID:1565144, PMID:1569604, PMID:1631137, PMID:1631151, PMID:1683921, PMID:1915267, PMID:1978757, PMID:2046748, PMID:2113594, PMID:2826609, PMID:7732013, PMID:7887414, PMID:8023157, PMID:8062826, PMID:8080050, PMID:8099841, PMID:8118819, PMID:8164043, PMID:8242631, PMID:8423216, PMID:8425176, PMID:8479749, PMID:8527048, PMID:8633021, PMID:9049183, PMID:9242456, PMID:9290701, PMID:9407971, PMID:9472631, PMID:9525742, PMID:9546439, PMID:9569050, PMID:9572492, PMID:9598730, PMID:9627118, PMID:9662334, PMID:9667734, PMID:9825943, PMID:10229196, PMID:10411893, PMID:10432928, PMID:10519380, PMID:10567903, PMID:10589545, PMID:10616528, PMID:10797439, PMID:10864200, PMID:10871862, PMID:10914716, PMID:10922393, PMID:11051239, PMID:11139324, PMID:11180592, PMID:11313981, PMID:11429705, PMID:11479205, PMID:11593407, PMID:11782540, PMID:11793474, PMID:11896595, PMID:11920959, PMID:12124823, PMID:12509279, PMID:12672316, PMID:12695689, PMID:12726864, PMID:12792784, PMID:12826609, PMID:12917626, PMID:14559903, PMID:15004724, PMID:15017592, PMID:15037740, PMID:15077194, PMID:15381368, PMID:15390294, PMID:15541116, PMID:15580553, PMID:15607980, PMID:15722483, PMID:15781620, PMID:15825182, PMID:15951970, PMID:15977174, PMID:16209708, PMID:16288208, PMID:16401470, PMID:16474844, PMID:16489069, PMID:16494995, PMID:16508005, PMID:16633321, PMID:16682957, PMID:16778209, PMID:16818505, PMID:16827139, PMID:16861262, PMID:17015838, PMID:17311302, PMID:17390010, PMID:17401428, PMID:17417627, PMID:17427234, PMID:17530187, PMID:17540308, PMID:17567834, PMID:17606709, PMID:17636407, PMID:17724467, PMID:17875924, PMID:18307025, PMID:18511570, PMID:18555592, PMID:18628487, PMID:18685109, PMID:19101993, PMID:19336573, PMID:19378321, PMID:19462533, PMID:19556618, PMID:19834951, PMID:19850740, PMID:20013323, PMID:20028212, PMID:20113312, PMID:20127978, PMID:20128691, PMID:20234365, PMID:20308654, PMID:20407015, PMID:20505364, PMID:20506564, PMID:20516128, PMID:20522432, PMID:20593220, PMID:20693561, PMID:20805372, PMID:21056685, PMID:21187651, PMID:21232794, PMID:21305319, PMID:21343334, PMID:21356188, PMID:21483000, PMID:21484931, PMID:21514416, PMID:21519010, PMID:21535297, PMID:21552135, PMID:21601526, PMID:21761402, PMID:22109999, PMID:22110706, PMID:22114072, PMID:22186996, PMID:22198284, PMID:22265402, PMID:22319594, PMID:22427690, PMID:22540896, PMID:22710932, PMID:22713868, PMID:22768918, PMID:22811390, PMID:22862161, PMID:22899716, PMID:22915647, PMID:22919068, PMID:22923379, PMID:22941188, PMID:22941189, PMID:22999923, PMID:23161690, PMID:23172776, PMID:23246812, PMID:23265383, PMID:23315175, PMID:23334668, PMID:23538418, PMID:23630318, PMID:23667202, PMID:23713777, PMID:23894400, PMID:23950206, PMID:23967324, PMID:24033266, PMID:24038938, PMID:24307375, PMID:24381225, PMID:24395441, PMID:24487413, PMID:24501221, PMID:24573247, PMID:24603336, PMID:24641375, PMID:24651012, PMID:24651015, PMID:24677579, PMID:24702488, PMID:24744791, PMID:24810334, PMID:25123297, PMID:25157968, PMID:25339994, PMID:25433984, PMID:25503501, PMID:25525159, PMID:25584008, PMID:25587027, PMID:25741868, PMID:25757876, PMID:25787918, PMID:25896519, PMID:25925845, PMID:25927356, PMID:25945745, PMID:25952993, PMID:26014290, PMID:26022348, PMID:26230955, PMID:26425688, PMID:26467025, PMID:26497680, PMID:26556299, PMID:26585234, PMID:26619011, PMID:26628864, PMID:26681312, PMID:26787237, PMID:26818906, PMID:26822237, PMID:26845104, PMID:27022024, PMID:27149858, PMID:27276561, PMID:27374712, PMID:27458004, PMID:27463065, PMID:27523101, PMID:27533082, PMID:27680515, PMID:27683180, PMID:27724982, PMID:27730344, PMID:27895058, PMID:27959731, PMID:28135145, PMID:28152038, PMID:28369373, PMID:28453743, PMID:28472496, PMID:28476805, PMID:28477316, PMID:28492532, PMID:28724667, PMID:28861920, PMID:29025599, PMID:29070607, PMID:29470806, PMID:29478780, PMID:29489754, PMID:29752822, PMID:29753700, PMID:29979965, PMID:30076369, PMID:30128536, PMID:30216591, PMID:30224644, PMID:30306255, PMID:30311369, PMID:30327374, PMID:30352134, PMID:30709381, PMID:30720243, PMID:30840781 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Xpo5 exportin 5 severity ISO DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) RGD PMID:24648983 RGD:11041738 NCBI chr 9:17,125,201...17,163,170
Ensembl chr 9:17,125,201...17,163,170
JBrowse link
G Zdbf2 zinc finger, DBF-type containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 9:70,052,088...70,090,847
Ensembl chr 9:70,059,683...70,089,778
JBrowse link
Medullary Carcinomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO CTD Direct Evidence: therapeutic CTD PMID:11352223 NCBI chr16:37,457,134...37,495,758
Ensembl chr16:37,457,135...37,495,758
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:7915165 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
Merkel cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO mRNA:decreased expression:skin (human) RGD PMID:28359267 RGD:38500206 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25277525 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO mRNA,protein:increased expression:nucleus RGD PMID:31218705 RGD:27226803 NCBI chr 8:40,066,954...40,078,131
Ensembl chr 8:40,067,076...40,078,165
JBrowse link
thyroid gland medullary carcinoma 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: Medullary Thyroid Cancer ClinVar PMID:12460918, PMID:15696205, PMID:16361624, PMID:16618717, PMID:17062680, PMID:17384584, PMID:18316791, PMID:18794081, PMID:19114683, PMID:19255327, PMID:19679400, PMID:19773371, PMID:20921462, PMID:20921465, PMID:21228335, PMID:23406027, PMID:24033266, PMID:25157968 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Medullary thyroid cancer (MTC) ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medullary thyroid carcinoma
ClinVar Annotator: match by term: Medullary thyroid cancer
CTD
ClinVar
PMID:2008030, PMID:2660074, PMID:2904651, PMID:3078962, PMID:7491519, PMID:7536460, PMID:7595171, PMID:7608256, PMID:7633441, PMID:7784092, PMID:7824936, PMID:7835899, PMID:7845675, PMID:7849700, PMID:7849720, PMID:7860065, PMID:7874109, PMID:7881414, PMID:7906417, PMID:7906866, PMID:7907913, PMID:7911697, PMID:7914213, PMID:7915165, PMID:7915822, PMID:7977365, PMID:8099202, PMID:8103403, PMID:8114940, PMID:8570194, PMID:8595427, PMID:8675603, PMID:8757765, PMID:8765374, PMID:8782503, PMID:8797874, PMID:8807338, PMID:8855832, PMID:8880581, PMID:8909322, PMID:8918855, PMID:9012462, PMID:9067749, PMID:9090527, PMID:9111992, PMID:9146685, PMID:9174404, PMID:9223675, PMID:9230192, PMID:9242375, PMID:9259198, PMID:9263528, PMID:9384613, PMID:9398735, PMID:9498388, PMID:9506724, PMID:9620546, PMID:9681850, PMID:9681851, PMID:9699127, PMID:9820617, PMID:9839497, PMID:9879991, PMID:9950371, PMID:10024437, PMID:10076558, PMID:10235148, PMID:10369718, PMID:10445857, PMID:10462620, PMID:10490816, PMID:10522989, PMID:10679286, PMID:11114642, PMID:11230481, PMID:11351254, PMID:11389085, PMID:11524247, PMID:11562352, PMID:11739416, PMID:11900218, PMID:11935126, PMID:11939755, PMID:11987030, PMID:12000816, PMID:12116277, PMID:12205548, PMID:12466368, PMID:12566528, PMID:12604374, PMID:12686527, PMID:12711285, PMID:12746565, PMID:12788868, PMID:12864791, PMID:14561794, PMID:14715928, PMID:14718397, PMID:15184865, PMID:15277225, PMID:15281979, PMID:15292360, PMID:15472167, PMID:15523405, PMID:15531714, PMID:15588376, PMID:15699703, PMID:15741265, PMID:15753368, PMID:15855933, PMID:15858153, PMID:15870131, PMID:16053382, PMID:16099853, PMID:16118333, PMID:16314641, PMID:16322339, PMID:16343097, PMID:16388093, PMID:16419493, PMID:16469774, PMID:16525712, PMID:16705552, PMID:16707008, PMID:16712668, PMID:16715139, PMID:16736292, PMID:16778204, PMID:16817830, PMID:16849421, PMID:16865647, PMID:16868135, PMID:17021738, PMID:17047083, PMID:17065770, PMID:17097365, PMID:17102080, PMID:17102083, PMID:17102091, PMID:17108110, PMID:17178962, PMID:17209045, PMID:17270543, PMID:17316110, PMID:17483988, PMID:17527003, PMID:17573899, PMID:17605401, PMID:17610518, PMID:17639058, PMID:17848262, PMID:17895320, PMID:17898100, PMID:18058472, PMID:18062802, PMID:18063059, PMID:18073307, PMID:18206480, PMID:18209889, PMID:18252215, PMID:18541894, PMID:18794325, PMID:18976013, PMID:19015274, PMID:19041016, PMID:19062722, PMID:19240193, PMID:19255327, PMID:19336503, PMID:19469690, PMID:19472011, PMID:19825962, PMID:19826964, PMID:19906784, PMID:20065189, PMID:20080836, PMID:20103606, PMID:20368568, PMID:20516206, PMID:20554711, PMID:20847059, PMID:20943719, PMID:20979234, PMID:21054478, PMID:21253810, PMID:21254918, PMID:21311890, PMID:21422799, PMID:21422803, PMID:21449769, PMID:21455200, PMID:21470995, PMID:21479187, PMID:21551259, PMID:21655256, PMID:21690267, PMID:21765987, PMID:21810974, PMID:21986619, PMID:22025146, PMID:22068382, PMID:22199277, PMID:22233172, PMID:22359510, PMID:22584710, PMID:22676344, PMID:22703879, PMID:22900816, PMID:22992277, PMID:23056499, PMID:23295303, PMID:23404858, PMID:23416954, PMID:23617071, PMID:23723040, PMID:23861463, PMID:24033266, PMID:24055113, PMID:24064755, PMID:24152999, PMID:24331334, PMID:24336963, PMID:24375508, PMID:24449023, PMID:24561444, PMID:24617864, PMID:24716929, PMID:24784869, PMID:24805091, PMID:24845513, PMID:25027091, PMID:25157968, PMID:25374962, PMID:25425582, PMID:25440022, PMID:25515555, PMID:25628771, PMID:25637381, PMID:25694125, PMID:25741868, PMID:25810047, PMID:25887804, PMID:25950813, PMID:26046350, PMID:26084817, PMID:26269449, PMID:26332594, PMID:26356818, PMID:26467025, PMID:26556299, PMID:26732158, PMID:27153395, PMID:27406704, PMID:27539324, PMID:27673361, PMID:27698838, PMID:27807060, PMID:27994876, PMID:28099363, PMID:28323957, PMID:28469506, PMID:28492532, PMID:28647780, PMID:28946813, PMID:28951487, PMID:29097883, PMID:29133048, PMID:29197744, PMID:29656518, PMID:30311386, PMID:30644554, PMID:30927507, PMID:31510104 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
vipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Men1 menin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17961653 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Sst somatostatin ISO CTD Direct Evidence: therapeutic CTD PMID:2868874 NCBI chr11:80,358,172...80,359,449
Ensembl chr11:80,358,211...80,359,444
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      endocrine system disease 4988
        endocrine gland cancer 1456
          neuroendocrine tumor 469
            neuroendocrine carcinoma 73
              Medullary Carcinomas + 7
              Merkel cell carcinoma 3
              Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 0
              breast large cell neuroendocrine carcinoma 0
              lung small cell carcinoma + 62
              somatostatinoma 0
              vipoma + 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of cellular proliferation 5913
      Neoplasms by Site 5278
        organ system cancer 4061
          nervous system cancer 1607
            neuroectodermal tumor 640
              neuroendocrine tumor 469
                neuroendocrine carcinoma 73
                  Medullary Carcinomas + 7
                  Merkel cell carcinoma 3
                  Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 0
                  breast large cell neuroendocrine carcinoma 0
                  lung small cell carcinoma + 62
                  somatostatinoma 0
                  vipoma + 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.