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.
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Eno2
enolase 2
ISO
RGD
PMID:15010880
RGD:2293735
NCBI chr 4:159,258,371...159,267,220
Ensembl chr 4:157,572,088...157,580,980
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Insrr
insulin receptor-related receptor
ISO
ClinVar Annotator: match by term: Familial medullary thyroid carcinoma
ClinVar
PMID:25741868
NCBI chr 2:175,553,244...175,572,676
Ensembl chr 2:173,255,414...173,274,800
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Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary
ClinVar
PMID:10330344 PMID:10443680 PMID:10861667 PMID:11139246 PMID:11159935 PMID:11719521 PMID:20301726 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29770739 PMID:32219930 More...
NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:173,236,963...173,253,770
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Prlr
prolactin receptor
ISS
OMIM:155240
MouseDO
NCBI chr 2:60,861,391...61,051,883
Ensembl chr 2:59,134,588...59,324,718
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Ret
ret proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary
CTD OMIM ClinVar
PMID:2660074 PMID:3078962 PMID:3697657 PMID:7536460 PMID:7595170 PMID:7633441 PMID:7647787 PMID:7716719 PMID:7784092 PMID:7824936 PMID:7835899 PMID:7845675 PMID:7849720 PMID:7874109 PMID:7881414 PMID:7906417 PMID:7906866 PMID:7907913 PMID:7911697 PMID:7915165 PMID:7915166 PMID:7977365 PMID:8099202 PMID:8103403 PMID:8114940 PMID:8557249 PMID:8570194 PMID:8595427 PMID:8626834 PMID:8675603 PMID:8733882 PMID:8782503 PMID:8797874 PMID:8807338 PMID:8855832 PMID:8909322 PMID:8918855 PMID:9067749 PMID:9090527 PMID:9111992 PMID:9111993 PMID:9146685 PMID:9174404 PMID:9230192 PMID:9242375 PMID:9259198 PMID:9263528 PMID:9384613 PMID:9398735 PMID:9452077 PMID:9467562 PMID:9498388 PMID:9506724 PMID:9536098 PMID:9606292 PMID:9620546 PMID:9681851 PMID:9681852 PMID:9727738 PMID:9745455 PMID:9760196 PMID:9824583 PMID:9839497 PMID:9868860 PMID:9879991 PMID:9950371 PMID:10024437 PMID:10076558 PMID:10220148 PMID:10235148 PMID:10323403 PMID:10369718 PMID:10445857 PMID:10462620 PMID:10490816 PMID:10549772 PMID:10646792 PMID:10679286 PMID:10777380 PMID:10790203 PMID:10826520 PMID:10876191 PMID:10982477 PMID:11114642 PMID:11230481 PMID:11238493 PMID:11295841 PMID:11351254 PMID:11386462 PMID:11436122 PMID:11454140 PMID:11471675 PMID:11562352 PMID:11589684 PMID:11688458 PMID:11732489 PMID:11739416 PMID:11788682 PMID:11849247 PMID:11932300 PMID:11935126 PMID:11939755 PMID:12000816 PMID:12019403 PMID:12116277 PMID:12150334 PMID:12193298 PMID:12409662 PMID:12410354 PMID:12490841 PMID:12566528 PMID:12686527 PMID:12694233 PMID:12788868 PMID:12864791 PMID:12920219 PMID:14517954 PMID:14561794 PMID:14566559 PMID:14602786 PMID:14633923 PMID:14715928 PMID:14718397 PMID:15184865 PMID:15240641 PMID:15271413 PMID:15277225 PMID:15292360 PMID:15331579 PMID:15345114 PMID:15386323 PMID:15472167 PMID:15531714 PMID:15588376 PMID:15588381 PMID:15699703 PMID:15741265 PMID:15753368 PMID:15771139 PMID:15834508 PMID:15844786 PMID:15855933 PMID:15858153 PMID:15870131 PMID:15991157 PMID:16118333 PMID:16275981 PMID:16314641 PMID:16325365 PMID:16343097 PMID:16384843 PMID:16441254 PMID:16469774 PMID:16507829 PMID:16525712 PMID:16532227 PMID:16649977 PMID:16705552 PMID:16707008 PMID:16712668 PMID:16715139 PMID:16736292 PMID:16813623 PMID:16849421 PMID:16865646 PMID:16865647 PMID:16868135 PMID:16928683 PMID:17021738 PMID:17032739 PMID:17047083 PMID:17097365 PMID:17108110 PMID:17108762 PMID:17178962 PMID:17188172 PMID:17209045 PMID:17316110 PMID:17344846 PMID:17384210 PMID:17466010 PMID:17483988 PMID:17540634 PMID:17576681 PMID:17590169 PMID:17605401 PMID:17610518 PMID:17664273 PMID:17704047 PMID:17895320 PMID:17963006 PMID:18058472 PMID:18062802 PMID:18063059 PMID:18073307 PMID:18206480 PMID:18209889 PMID:18248648 PMID:18252215 PMID:18299477 PMID:18551016 PMID:18805915 PMID:18984779 PMID:19041016 PMID:19169500 PMID:19201392 PMID:19445625 PMID:19469690 PMID:19472011 PMID:19826964 PMID:19906784 PMID:19958926 PMID:20039896 PMID:20041006 PMID:20080836 PMID:20087666 PMID:20103606 PMID:20142552 PMID:20369307 PMID:20442138 PMID:20494215 PMID:20497437 PMID:20516206 PMID:20554711 PMID:20719260 PMID:20739875 PMID:20833330 PMID:20979234 PMID:20981092 PMID:21054478 PMID:21134561 PMID:21253810 PMID:21254918 PMID:21309721 PMID:21311890 PMID:21422799 PMID:21454698 PMID:21479187 PMID:21490379 PMID:21626080 PMID:21655256 PMID:21678021 PMID:21688339 PMID:21690267 PMID:21711375 PMID:21765987 PMID:21810974 PMID:21834681 PMID:21986619 PMID:21995290 PMID:22068382 PMID:22174939 PMID:22199277 PMID:22233172 PMID:22270996 PMID:22359510 PMID:22403753 PMID:22584710 PMID:22584715 PMID:22648184 PMID:22676047 PMID:22676344 PMID:22703879 PMID:22729463 PMID:22747440 PMID:22811860 PMID:22837065 PMID:22865907 PMID:22965292 PMID:22992277 PMID:22995991 PMID:23084198 PMID:23210566 PMID:23278115 PMID:23295303 PMID:23341727 PMID:23461807 PMID:23468374 PMID:23514012 PMID:23526464 PMID:23527089 PMID:23660872 PMID:23723040 PMID:23744765 PMID:23745650 PMID:23756355 PMID:24033266 PMID:24064755 PMID:24144365 PMID:24152999 PMID:24331334 PMID:24336963 PMID:24361808 PMID:24375508 PMID:24449023 PMID:24560924 PMID:24569963 PMID:24616773 PMID:24617864 PMID:24684035 PMID:24699901 PMID:24716929 PMID:24728327 PMID:24745698 PMID:24794695 PMID:24805091 PMID:24845513 PMID:25319874 PMID:25349307 PMID:25374962 PMID:25425582 PMID:25440022 PMID:25497412 PMID:25501606 PMID:25624014 PMID:25628771 PMID:25637381 PMID:25694125 PMID:25733075 PMID:25741868 PMID:25759805 PMID:25767701 PMID:25810047 PMID:25824727 PMID:25887804 PMID:25903693 PMID:26033033 PMID:26046350 PMID:26084817 PMID:26206375 PMID:26230854 PMID:26247112 PMID:26254625 PMID:26269449 PMID:26343384 PMID:26356818 PMID:26395553 PMID:26467025 PMID:26556299 PMID:26678667 PMID:26687385 PMID:26758973 PMID:26845104 PMID:26876062 PMID:26920351 PMID:27099842 PMID:27153395 PMID:27207748 PMID:27379493 PMID:27525386 PMID:27527004 PMID:27539324 PMID:27673361 PMID:27704398 PMID:27807060 PMID:27809725 PMID:27884173 PMID:27994876 PMID:28125075 PMID:28137737 PMID:28323957 PMID:28492532 PMID:28566479 PMID:28578594 PMID:28647780 PMID:28717660 PMID:28873162 PMID:28946813 PMID:28951487 PMID:29026273 PMID:29097883 PMID:29192238 PMID:29386230 PMID:29396759 PMID:29408964 PMID:29420094 PMID:29549836 PMID:29579362 PMID:29590403 PMID:29625052 PMID:29641532 PMID:29656518 PMID:29684080 PMID:29790872 PMID:30172768 PMID:30217742 PMID:30392857 PMID:30644554 PMID:30653460 PMID:30660595 PMID:30763276 PMID:30877234 PMID:30884088 PMID:30927507 PMID:31019283 PMID:31431315 PMID:31447099 PMID:31471357 PMID:31510104 PMID:31937788 PMID:32164334 PMID:32179705 PMID:32283892 PMID:32293499 PMID:32375120 PMID:32411094 PMID:32546069 PMID:32732076 PMID:32923848 PMID:33084974 PMID:33167350 PMID:33340421 PMID:33450337 PMID:33615670 PMID:33680468 PMID:33754314 PMID:33763905 PMID:33827484 PMID:34426522 PMID:34629742 PMID:34637071 PMID:34881033 PMID:34885201 PMID:35189708 PMID:35264596 PMID:35304457 PMID:35534704 PMID:35535697 PMID:35957908 PMID:36166639 PMID:36222615 PMID:36451132 PMID:36900098 PMID:36900197 PMID:37529773 PMID:37604101 PMID:37937776 PMID:38253735 More...
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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Acvr1b
activin A receptor type 1B
ISO
RGD
PMID:33880365
RGD:151665493
NCBI chr 7:132,286,266...132,329,679
Ensembl chr 7:132,286,275...132,329,673
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Adcy1
adenylate cyclase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr14:81,911,240...82,020,594
Ensembl chr14:81,911,099...82,028,969
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Apoa1
apolipoprotein A1
treatment
ISO
RGD
PMID:26996551
RGD:11561502
NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035
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Apoc3
apolipoprotein C3
treatment
ISO
RGD
PMID:26996551
RGD:11561502
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Ascl1
achaete-scute family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26253517
NCBI chr 7:23,790,642...23,793,509
Ensembl chr 7:21,903,126...21,905,993
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Atm
ATM serine/threonine kinase
susceptibility
ISO
DNA:SNP:intron:(rs227060) (human)
RGD
PMID:28642860
RGD:150383339
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437
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Atrx
ATRX, chromatin remodeler
disease_progression
ISO
RGD
PMID:31374064 PMID:29748005
RGD:127285382 , RGD:127285383
NCBI chr X:74,916,548...75,062,880
Ensembl chr X:70,850,981...70,997,330
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Avp
arginine vasopressin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2832203
NCBI chr 3:138,246,544...138,248,522
Ensembl chr 3:117,793,457...117,795,425
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Axin2
axin 2
disease_progression
ISO
DNA:SNP::1386 C>T(human)
RGD
PMID:30346805
RGD:151356655
NCBI chr10:94,393,379...94,426,579
Ensembl chr10:93,899,245...93,926,231
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B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Small cell lung cancer | ClinVar Annotator: match by term: Small cell lung carcinoma
ClinVar
PMID:26619011
NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766
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Bcl2
BCL2, apoptosis regulator
susceptibility
ISO
DNA:SNP: :rs2279115(human)
RGD
PMID:26311051
RGD:13673911
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bclaf1
BCL2-associated transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 1:15,088,436...15,117,666
Ensembl chr 1:15,070,894...15,148,832
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Ccnd1
cyclin D1
disease_progression
ISO
DNA:snp:exon:c.870G>A (human)
RGD
PMID:29739297
RGD:13673912
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
protein:increased expression:lung
RGD
PMID:9500468
RGD:13673920
NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982
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Cdyl
chromodomain Y-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr17:28,982,009...29,204,345
Ensembl chr17:28,982,037...29,204,313
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Chrna3
cholinergic receptor nicotinic alpha 3 subunit
susceptibility
ISO
mRNA:increased expression:lung DNA:SNP:cds:rs8040868(human)
RGD
PMID:20124469 PMID:22280835
RGD:150527851 , RGD:151347453
NCBI chr 8:55,401,668...55,415,165
Ensembl chr 8:55,401,702...55,415,165
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Chrna5
cholinergic receptor nicotinic alpha 5 subunit
ISO
mRNA:increased expression:lung
RGD
PMID:20124469
RGD:150527851
NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146
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Chrna9
cholinergic receptor nicotinic alpha 9 subunit
susceptibility
ISO
DNA:SNPs:multiples:
RGD
PMID:22280835
RGD:151347453
NCBI chr14:42,235,218...42,241,939
Ensembl chr14:42,235,226...42,242,192
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Chrnb4
cholinergic receptor nicotinic beta 4 subunit
ISO
mRNA:increased expression:lung
RGD
PMID:20124469
RGD:150527851
NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027
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Ckb
creatine kinase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2828370
NCBI chr 6:136,550,583...136,553,464
Ensembl chr 6:130,729,423...130,732,315
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Cntnap2
contactin associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 4:75,109,358...77,366,258
Ensembl chr 4:74,109,472...76,362,027
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Col22a1
collagen type XXII alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 7:103,730,939...103,968,452
Ensembl chr 7:103,731,037...103,968,462
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Col4a2
collagen type IV alpha 2 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr16:84,749,672...84,885,520
Ensembl chr16:78,047,602...78,183,839
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Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941188
NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888
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Csf1r
colony stimulating factor 1 receptor
exacerbates
ISO
protein:increased expression:lung (human)
RGD
PMID:1390197
RGD:150524305
NCBI chr18:56,834,152...56,860,804
Ensembl chr18:54,546,659...54,590,415
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9093707
NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
susceptibility
ISO
DNA:SNP:CDS: (rs6068816) (human)
RGD
PMID:31264381
RGD:151665340
NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:159,275,947...159,290,383
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Dip2c
disco-interacting protein 2 homolog C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr17:60,647,346...61,032,467
Ensembl chr17:60,649,065...61,032,305
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Dll4
delta like canonical Notch ligand 4
treatment
IEP
RGD
PMID:33628824
RGD:155663482
NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:106,316,986...106,326,931
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Dnmt3b
DNA methyltransferase 3 beta
susceptibility
ISO
DNA:SNPs:promoter:-283T >C,-579G>T(human)
RGD
PMID:15528220
RGD:9589086
NCBI chr 3:162,590,777...162,629,313
Ensembl chr 3:142,130,592...142,169,124
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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 3:163,524,739...163,535,563
Ensembl chr 3:143,049,478...143,075,361
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Eef2
eukaryotic translation elongation factor 2
ISO
protein:increased expression:lung (human)
RGD
PMID:24589652
RGD:153297816
NCBI chr 7:9,183,836...9,196,255
Ensembl chr 7:8,533,116...8,559,183
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20837450
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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Elavl2
ELAV like RNA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 5:105,960,872...106,086,463
Ensembl chr 5:105,960,875...106,109,097
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Ep300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941188
NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Epha7
Eph receptor A7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941188
NCBI chr 5:42,975,353...43,128,703
Ensembl chr 5:42,975,405...43,127,112
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Fat1
FAT atypical cadherin 1
ISO
DNA:mutations:multiple (human)
RGD
PMID:31199602
RGD:150429733
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Fgfr1
Fibroblast growth factor receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941188
NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
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Foxa1
forkhead box A1
disease_progression
ISO
RGD
PMID:22383183
RGD:151665760
NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
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Grik3
glutamate ionotropic receptor kainate type subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 5:137,767,865...137,989,617
Ensembl chr 5:137,767,865...137,984,307
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Grm8
glutamate metabotropic receptor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 4:55,805,762...56,731,690
Ensembl chr 4:55,805,955...56,730,831
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Grp
gastrin releasing peptide
disease_progression
ISO
protein:increased expression:serum (human)
RGD
PMID:30146822
RGD:401700396
NCBI chr18:59,388,679...59,402,061
Ensembl chr18:59,388,274...59,402,061
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Id2
inhibitor of DNA binding 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23582323
NCBI chr 6:47,469,162...47,470,995
Ensembl chr 6:41,728,946...41,744,400
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Insm1
INSM transcriptional repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23582323
NCBI chr 3:133,640,030...133,642,963
Ensembl chr 3:133,639,580...133,643,003
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Itgb1
integrin subunit beta 1
disease_progression treatment
ISO
RGD
PMID:21063403 PMID:12168902
RGD:13792831 , RGD:13792832
NCBI chr19:73,602,277...73,650,271
Ensembl chr19:56,705,171...56,753,195
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Kdm6a
lysine demethylase 6A
ISO
DNA:mutations:multiple: (human)
RGD
PMID:31199602
RGD:150429733
NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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Khsrp
KH-type splicing regulatory protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 9:1,862,555...1,872,403
Ensembl chr 9:1,862,899...1,872,451
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Kif21a
kinesin family member 21A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 7:122,062,523...122,179,051
Ensembl chr 7:122,062,537...122,178,999
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15499612
NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
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Kmt2a
lysine methyltransferase 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941188
NCBI chr 8:54,013,547...54,089,219
Ensembl chr 8:45,118,814...45,193,181
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Kmt2d
lysine methyltransferase 2D
disease_progression
ISO
DNA:missense mutations, insertion/deletion:plasma
RGD
PMID:28007623 PMID:29748005 PMID:27873319 PMID:29627316
RGD:150523766 , RGD:127285383 , RGD:150523768 , RGD:150523767
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Lama3
laminin subunit alpha 3
ISO
DNA:hyper-methylation:promoter:
RGD
PMID:12855645
RGD:13793369
NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
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Lamb3
laminin subunit beta 3
ISO
DNA:hyper-methylation:promoter:
RGD
PMID:12855645
RGD:13793369
NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405
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Lamc2
laminin subunit gamma 2
ISO
DNA:hyper-methylation:promoter:
RGD
PMID:12855645
RGD:13793369
NCBI chr13:65,284,664...65,344,164
Ensembl chr13:65,284,664...65,344,200
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Lyrm9
LYR motif containing 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr10:64,223,732...64,237,791
Ensembl chr10:63,725,743...63,739,772
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Max
MYC associated factor X
ISO
DNA:loss of heterozygosity:lung
RGD
PMID:24362264
RGD:13793386
NCBI chr 6:101,369,989...101,395,333
Ensembl chr 6:95,636,858...95,662,137
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Mthfr
methylenetetrahydrofolate reductase
severity
ISO
protein:missense mutation:cds:p.A222V (human)
RGD
PMID:17533396
RGD:4891158
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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Mtor
mechanistic target of rapamycin kinase
disease_progression
ISO
DNA:SNP: :rs2536(human)
RGD
PMID:28280736
RGD:13825123
NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311
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Myc
MYC proto-oncogene, bHLH transcription factor
disease_progression
ISO
RGD
PMID:28089889
RGD:13793389
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
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Mycl
MYCL proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22941189
NCBI chr 5:140,559,843...140,566,704
Ensembl chr 5:135,274,748...135,281,582
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Ndrg1
N-myc downstream regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 7:100,573,526...100,614,902
Ensembl chr 7:98,684,487...98,725,880
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Notch1
notch receptor 1
treatment
IEP
RGD
PMID:33628824
RGD:155663482
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531
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Pbrm1
polybromo 1
disease_progression
ISO
RGD
PMID:29748005
RGD:127285383
NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Small cell lung carcinoma
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24559322 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26851524 PMID:27631024 PMID:28151489 PMID:28425981 PMID:29661094 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34496175 More...
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
disease_progression
ISO
DNA:SNPs: :rs3756668,rs12755(human)
RGD
PMID:28280736
RGD:13825123
NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631
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Plscr4
phospholipid scramblase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 8:92,987,290...93,026,056
Ensembl chr 8:92,987,381...93,026,049
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941188
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Ptk2
protein tyrosine kinase 2
disease_progression
ISO
DNA:CNV::
RGD
PMID:21800286 PMID:20802517
RGD:13825133 , RGD:13825141
NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
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Rad52
RAD52 homolog, DNA repair protein
susceptibility treatment
ISO
DNA:SNP:3'utr: (rs7963551) (human) DNA:SNP: (rs10774474)(human)
RGD
PMID:26629180 PMID:27531263
RGD:151660337 , RGD:151660339
NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207
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Rarb
retinoic acid receptor, beta
ISO
DNA:methylation: :
RGD
PMID:29851970
RGD:13825142
NCBI chr15:8,700,533...9,051,288
Ensembl chr15:8,406,492...9,051,288
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Rassf8
Ras association domain family member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 4:178,716,110...178,798,042
Ensembl chr 4:178,719,992...178,796,690
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Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Small cell lung carcinoma
CTD ClinVar
PMID:2594029 PMID:22941188 PMID:22941189 PMID:25741868
NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302
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Rictor
RPTOR independent companion of MTOR, complex 2
severity
ISO
associated with Neoplasm Metastasis; protein:increased expression:lung, lymph node (human) DNA:CNV, amplification:exon (human)
RGD
PMID:31454632 PMID:27863413
RGD:152995447 , RGD:152995517
NCBI chr 2:57,539,279...57,631,291
Ensembl chr 2:55,811,322...55,901,426
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Rims2
regulating synaptic membrane exocytosis 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 7:70,248,104...70,759,134
Ensembl chr 7:70,243,872...70,757,491
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Runx1t1
RUNX1 partner transcriptional co-repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 5:27,187,674...27,338,070
Ensembl chr 5:27,187,551...27,335,592
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Satb2
SATB homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707
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Skp2
S-phase kinase associated protein 2
ISO
mRNA:increased expression:lung:
RGD
PMID:12107105
RGD:13825152
NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
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Slit2
slit guidance ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941188
NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
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Smarca4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26343384
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Sox2
SRY-box transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338
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Tmem132d
transmembrane protein 132D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr12:28,270,039...28,917,324
Ensembl chr12:28,270,712...28,915,374
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941188 PMID:22941189
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Tp73
tumor protein p73
ISO
DNA:mutations:multiple: (human)
RGD
PMID:26168399
RGD:151347582
NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:164,621,377...164,681,128
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Ttr
transthyretin
ISO
protein:increased expression:lung (human)
RGD
PMID:26943652
RGD:151665207
NCBI chr18:12,216,684...12,225,972
Ensembl chr18:11,943,789...11,951,008
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Ubxn11
UBX domain protein 11
ISO
ClinVar Annotator: match by term: Small cell lung cancer | ClinVar Annotator: match by term: Small cell lung carcinoma
ClinVar
NCBI chr 5:146,329,666...146,353,529
Ensembl chr 5:146,329,842...146,353,526
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Xpo5
exportin 5
severity
ISO
DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human)
RGD
PMID:24648983
RGD:11041738
NCBI chr 9:22,237,760...22,275,745
Ensembl chr 9:14,740,182...14,778,171
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Zdbf2
zinc finger, DBF-type containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 9:64,672,974...64,748,446
Ensembl chr 9:64,709,880...64,744,265
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Hpgd
15-hydroxyprostaglandin dehydrogenase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11352223
NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228
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Ret
ret proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7915165
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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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 gland carcinoma
CTD ClinVar
PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 PMID:7906417 PMID:7906866 PMID:7911697 PMID:7915165 PMID:7977365 PMID:8570194 PMID:8595427 PMID:8782503 PMID:8797874 PMID:8918855 PMID:9242375 PMID:9398735 PMID:9620546 PMID:10024437 PMID:10076558 PMID:10369718 PMID:10445857 PMID:10679286 PMID:11351254 PMID:11688458 PMID:11739416 PMID:11849247 PMID:12686527 PMID:12920219 PMID:14602786 PMID:15277225 PMID:15292360 PMID:15588381 PMID:15753368 PMID:15858153 PMID:16419493 PMID:16469774 PMID:16525712 PMID:16532227 PMID:16712668 PMID:16715139 PMID:16849421 PMID:16868135 PMID:16928683 PMID:17108110 PMID:17178962 PMID:17209045 PMID:17540634 PMID:17590169 PMID:17605401 PMID:17664273 PMID:17704047 PMID:17895320 PMID:17963006 PMID:18058472 PMID:18062802 PMID:18073307 PMID:18209889 PMID:18252215 PMID:19041016 PMID:19169500 PMID:19469690 PMID:20103606 PMID:20516206 PMID:20554711 PMID:21253810 PMID:21479187 PMID:21551259 PMID:21690267 PMID:21765987 PMID:21810974 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22676344 PMID:22992277 PMID:23295303 PMID:23660872 PMID:24033266 PMID:24055113 PMID:24336963 PMID:24449023 PMID:24699901 PMID:24845513 PMID:25440022 PMID:25637381 PMID:25741868 PMID:25810047 PMID:25887804 PMID:26046350 PMID:26084817 PMID:26269449 PMID:26332594 PMID:26356818 PMID:26467025 PMID:27014708 PMID:27539324 PMID:27673361 PMID:27683183 PMID:27807060 PMID:28323957 PMID:28492532 PMID:28647780 PMID:28873162 PMID:28946813 PMID:28951487 PMID:29192238 PMID:29656518 PMID:29684080 PMID:30446652 PMID:30660595 PMID:30758123 PMID:30763276 PMID:30927507 PMID:31300450 PMID:31510104 PMID:31550935 PMID:31711124 PMID:32080788 PMID:32179705 PMID:32375120 PMID:32546069 PMID:33340421 PMID:33532864 PMID:33827484 PMID:34120433 PMID:34402300 PMID:34426522 PMID:34629742 PMID:34881033 PMID:35264596 PMID:35534704 PMID:37347391 PMID:37627175 More...
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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Cd68
Cd68 molecule
ISO
protein:increased expression:tumor (human)
RGD
PMID:22050913
RGD:40925916
NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,381,815...54,383,697
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Fgfr3
fibroblast growth factor receptor 3
ISO
mRNA:decreased expression:skin (human)
RGD
PMID:28359267
RGD:38500206
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25277525
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
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Spa17
sperm autoantigenic protein 17
ISO
mRNA,protein:increased expression:nucleus
RGD
PMID:31218705
RGD:27226803
NCBI chr 8:37,307,432...37,318,519
Ensembl chr 8:37,307,557...37,318,639
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Ifna1
interferon, alpha 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17961653
NCBI chr 5:108,143,240...108,143,809
Ensembl chr 5:103,097,356...103,097,925
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Men1
menin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17961653
NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:203,639,000...203,644,871
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Sst
somatostatin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2868874
NCBI chr11:90,461,546...90,462,823
Ensembl chr11:76,956,896...76,958,173
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