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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Neoplasm of the lung
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Accession:HP:0100526 term browser browse the term
Definition:Tumor of the lung.
Synonyms:exact_synonym: Lung tumor;   Lung tumour
 broad_synonym: Lung cancer
 xref: NCI:C3262;   SNOMEDCT_US:126713003;   UMLS:C0024121


show annotations for term's descendants           Sort by:
Neoplasm of the lung term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAGAB alpha and gamma adaptin binding protein IAGP HPO ORPHA:79501 NCBI chr15:67,200,667...67,255,198
Ensembl chr15:67,200,667...67,255,195 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759 		JBrowse link
G ALK ALK receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:22277784 PMID:24887559 PMID:25741868 PMID:26939704 PMID:28492532 NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586 		JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ARID2 AT-rich interaction domain 2 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040 		JBrowse link
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:25741868 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G BARD1 BRCA1 associated RING domain 1 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:19197335 PMID:20077502 PMID:25741868 PMID:26467025 PMID:26738429 More... NCBI chr 2:214,725,646...214,809,683
Ensembl chr 2:214,725,646...214,809,683 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:21515830 PMID:24465802 PMID:26253951 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:9536098 PMID:16439621 PMID:16474404 PMID:16953233 PMID:17366577 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:8554067 PMID:9760198 PMID:10486320 PMID:10505028 PMID:11260866 More... NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:654 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G CASP8 caspase 8 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836 		JBrowse link
G CDC27 cell division cycle 27 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr17:47,117,703...47,189,295
Ensembl chr17:47,117,703...47,189,422 		JBrowse link
G CDH10 cadherin 10 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr 5:24,487,100...24,644,978
Ensembl chr 5:24,487,100...24,644,978 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP ClinVar Annotator: match by term: Lung cancer ClinVar
HPO		 ORPHA:524 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 IAGP DNA:missense mutation:CDS p.D140E (rs7479004) RGD PMID:25407497 RGD:153323305 NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP ClinVar Annotator: match by term: Lung cancer HPO
ClinVar		 PMID:16883537 PMID:18484200 PMID:21244692 PMID:21618645 PMID:23318652 More... ORPHA:524 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit onset IAGP DNA:SNP:exon 2: rs8040868(T>C) (human) RGD PMID:29416783 RGD:151361155 NCBI chr15:78,593,052...78,620,996
Ensembl chr15:78,593,052...78,621,295 		JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit susceptibility IAGP DNA:SNP:3'utr: (rs1948)C>T (human) RGD PMID:29416783 RGD:151361155 NCBI chr15:78,624,111...78,661,641
Ensembl chr15:78,624,111...78,727,754 		JBrowse link
G COL14A1 collagen type XIV alpha 1 chain IAGP HPO ORPHA:79501 NCBI chr 8:120,124,454...120,373,573
Ensembl chr 8:120,059,780...120,373,573 		JBrowse link
G COMT catechol-O-methyltransferase susceptibility IAGP DNA:SNP:exon 4: 472G>A, p.V158M (rs4680) (human) RGD PMID:27644662 RGD:401959228 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G CTNND2 catenin delta 2 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr 5:10,971,836...11,904,446
Ensembl chr 5:10,971,836...11,904,446 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 sexual_dimorphism IAGP DNA:SNP:intron: (rs2765934) RGD PMID:31264381 RGD:151665340 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G DAB2IP DAB2 interacting protein sexual_dimorphism IAGP DNA:SNP:intron 1:97906C>A (rs1571801) (human) RGD PMID:22046421 RGD:151665197 NCBI chr 9:121,567,074...121,785,530
Ensembl chr 9:121,567,057...121,785,530 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP HPO ORPHA:654 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
G DRD4 dopamine receptor D4 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr11:637,269...640,706
Ensembl chr11:637,269...640,706 		JBrowse link
G DSPP dentin sialophosphoprotein IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873 		JBrowse link
G EGFR epidermal growth factor receptor IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:11423618 PMID:15272417 PMID:15728811 PMID:15737014 PMID:15901872 More... NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G EGFR-AS1 EGFR antisense RNA 1 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:11423618 PMID:15272417 PMID:15728811 PMID:15737014 PMID:15901872 More... NCBI chr 7:55,179,750...55,188,949
Ensembl chr 7:55,179,750...55,212,969 		JBrowse link
G EPB41L3 erythrocyte membrane protein band 4.1 like 3 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr18:5,392,386...5,630,663
Ensembl chr18:5,392,381...5,630,700 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:24728327 PMID:25741868 PMID:26094658 PMID:28492532 PMID:31115453 More... NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:887325 PMID:1339317 PMID:9150142 PMID:9443879 PMID:10196384 More... NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G EWSR1 EWS RNA binding protein 1 IAGP HPO ORPHA:83469 NCBI chr22:29,268,268...29,300,521
Ensembl chr22:29,268,009...29,300,525 		JBrowse link
G FASLG Fas ligand IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:17605793 PMID:25741868 PMID:26456038 PMID:28492532 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FAT1 FAT atypical cadherin 1 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 disease_progression IAGP DNA:SNP:exon 9: p.G388R (human) RGD PMID:16061909 RGD:150429976 NCBI chr 5:177,086,915...177,098,144
Ensembl chr 5:177,086,905...177,098,144 		JBrowse link
G GNAQ G protein subunit alpha q IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811 		JBrowse link
G GPC3 glypican 3 IAGP HPO ORPHA:654 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP HPO ORPHA:654 NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552 		JBrowse link
G HPGD 15-hydroxyprostaglandin dehydrogenase IAGP HPO ORPHA:2796 NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 susceptibility IAGP DNA:SNP:CD: (rs11540478) C>T (human) RGD PMID:27649069 RGD:149735566 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558 		JBrowse link
G KMT2C lysine methyltransferase 2C IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:25741868 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:1875403 PMID:6320174 PMID:7773929 PMID:8439212 PMID:9362444 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LOC126806930 BRD4-independent group 4 enhancer GRCh37_chr3:195505212-195506411 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr 3:195,778,341...195,779,540 JBrowse link
G LOC126859871 MED14-independent group 3 enhancer GRCh37_chr6:162621359-162622558 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:10319889 PMID:10511432 PMID:12975291 PMID:16227559 PMID:17415800 More... NCBI chr 6:162,200,327...162,201,526 JBrowse link
G LOC126860048 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:55223847-55225046 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:55,156,001...55,157,353 JBrowse link
G LOC126860202 BRD4-independent group 4 enhancer GRCh37_chr7:140493623-140494822 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:24920063 PMID:25741868 PMID:28492532 NCBI chr 7:140,793,823...140,795,022 JBrowse link
G LOC126860933 BRD4-independent group 4 enhancer GRCh37_chr10:50679962-50681161 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:9443879 PMID:18628313 PMID:23428416 PMID:25741868 PMID:28492532 More... NCBI chr10:49,471,916...49,473,115 JBrowse link
G LRP1B LDL receptor related protein 1B disease_progression IAGP DNA:mutations:multiple:
ClinVar Annotator: match by term: Lung cancer		 ClinVar
RGD		 PMID:33219256 RGD:150429789 NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016 		JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 ameliorates IAGP DNA:SNP:promoter: -1304T>G (rs3826392) (human) RGD PMID:20554746 RGD:150429822 NCBI chr17:12,020,877...12,143,828
Ensembl chr17:12,020,829...12,143,830 		JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 exacerbates IAGP DNA:missense mutation:CDS:p.E116K RGD PMID:27028764 RGD:11529413 NCBI chr19:7,903,877...7,914,478
Ensembl chr19:7,903,843...7,914,478 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO ORPHA:659 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member IAGP DNA:SNP:promoter:-190indel, -235C>A, (rs3831987,rs3738484) RGD PMID:21887682 RGD:151356991 NCBI chr 1:150,574,558...150,579,610
Ensembl chr 1:150,560,895...150,579,738 		JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:524 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G MIRLET7BHG MIRLET7B host gene susceptibility IAGP DNA:SNPs:multiple RGD PMID:26199339 RGD:152998959 NCBI chr22:46,085,997...46,113,928
Ensembl chr22:46,044,913...46,116,382 		JBrowse link
G MLH1 mutL homolog 1 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:25420488 PMID:26845104 PMID:28492532 PMID:30702970 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MUC16 mucin 16, cell surface associated IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr19:8,848,844...9,065,751
Ensembl chr19:8,848,844...9,010,390 		JBrowse link
G MUC19 mucin 19, oligomeric (gene/pseudogene) IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr12:40,393,394...40,570,757
Ensembl chr12:40,393,395...40,570,832 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr11:1,074,874...1,110,508
Ensembl chr11:1,074,875...1,110,511 		JBrowse link
G MUC3A mucin 3A, cell surface associated IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr 7:100,949,534...100,968,347
Ensembl chr 7:100,949,534...100,968,347 		JBrowse link
G MUC4 mucin 4, cell surface associated IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973 		JBrowse link
G MUC6 mucin 6, oligomeric mucus/gel-forming (gene/pseudogene) IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr11:1,012,823...1,036,718
Ensembl chr11:1,012,823...1,036,718 		JBrowse link
G NAB2 NGFI-A binding protein 2 IAGP HPO ORPHA:2126 NCBI chr12:57,089,114...57,095,476
Ensembl chr12:57,089,043...57,095,476 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO ORPHA:2591 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 More... NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO ORPHA:2591 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PERP p53 apoptosis effector related to PMP22 IAGP HPO ORPHA:659 NCBI chr 6:138,088,505...138,107,419
Ensembl chr 6:138,088,505...138,107,419 		JBrowse link
G PGBD3 piggyBac transposable element derived 3 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:9443879 PMID:10196384 PMID:18414213 PMID:18628313 PMID:18784753 More... NCBI chr10:49,515,105...49,524,281
Ensembl chr10:49,454,470...49,539,538 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980 		JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit severity IAGP DNA:missense mutation:CDS:p.A252V RGD PMID:17855454 RGD:11567235 NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376 		JBrowse link
G POU6F2 POU class 6 homeobox 2 IAGP HPO ORPHA:654 NCBI chr 7:38,977,909...39,468,601
Ensembl chr 7:38,977,909...39,493,095 		JBrowse link
G PPP2R1B protein phosphatase 2 scaffold subunit Abeta IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr11:111,688,000...111,766,389
Ensembl chr11:111,726,908...111,766,389 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:10072423 PMID:10319889 PMID:10511432 PMID:10824074 PMID:11179010 More... NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G RAD52 RAD52 homolog, DNA repair protein susceptibility IAGP DNA:SNP,haplotype:
DNA:SNP: (rs4766394) (human)		 RGD PMID:18449888 PMID:22382497 RGD:151660351, RGD:151660503 NCBI chr12:911,736...991,122
Ensembl chr12:911,736...990,053 		JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP HPO MIM:182280 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436 		JBrowse link
G RELN reelin IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658 		JBrowse link
G REST RE1 silencing transcription factor IAGP HPO ORPHA:654 NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:15457444 PMID:15677700 PMID:17325736 PMID:18322994 PMID:19827168 More... NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365 		JBrowse link
G SLC25A5 solute carrier family 25 member 5 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr  X:119,468,444...119,471,396
Ensembl chr  X:119,468,422...119,471,396 		JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP HPO ORPHA:2796 NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184 		JBrowse link
G SMAD3 SMAD family member 3 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:21515830 PMID:24465804 PMID:26253951 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMAD4 SMAD family member 4 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:21515830 PMID:24465805 PMID:25741868 PMID:26253951 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMAD9 SMAD family member 9 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar PMID:21515830 PMID:24465803 PMID:26253951 NCBI chr13:36,844,831...36,920,854
Ensembl chr13:36,844,831...36,920,887 		JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 IAGP HPO ORPHA:2126 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar
HPO		 ORPHA:2869 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar
HPO		 ORPHA:524 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TP73 tumor protein p73 susceptibility IAGP DNA:SNPs:exon 2: 4G>A, 14C>T RGD PMID:32063627 RGD:151347583 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201 		JBrowse link
G TRIM28 tripartite motif containing 28 IAGP HPO ORPHA:654 NCBI chr19:58,544,064...58,550,715
Ensembl chr19:58,544,064...58,550,722 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO ORPHA:654 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G TRPC4 transient receptor potential cation channel subfamily C member 4 susceptibility IAGP DNA:SNPs:: (rs9547991, rs978156) (human) RGD PMID:27617218 RGD:152995362 NCBI chr13:37,632,063...37,869,772
Ensembl chr13:37,632,063...37,869,802 		JBrowse link
G TRPC7 transient receptor potential cation channel subfamily C member 7 susceptibility IAGP DNA:SNPs:: (rs11748198) (human) RGD PMID:27617218 RGD:152995362 NCBI chr 5:136,212,745...136,365,545
Ensembl chr 5:136,212,745...136,365,545 		JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 IAGP HPO ORPHA:659 NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812 		JBrowse link
G UBXN11 UBX domain protein 11 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr 1:26,282,282...26,318,355
Ensembl chr 1:26,281,328...26,318,363 		JBrowse link
G VEGFC vascular endothelial growth factor C IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr 4:176,683,538...176,792,922
Ensembl chr 4:176,683,538...176,792,922 		JBrowse link
G WRN WRN RecQ like helicase IAGP HPO ORPHA:902 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:654 ORPHA:83469 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility
no_association
severity
onset		 IAGP DNA:SNP:exon 10: c.1178G>A, p.R393H (human)
DNA:missense mutation:exon 10: p.R399Q (rs25487) (human)
DNA:missense mutation:cds: p.R399Q (human)
DNA:missense mutations:cds: p.R399Q, p.R194W (human)
DNA:SNPs, haplotypes:exon 6, exon 7: p.R194W, p.P206P (rs179978, rs915927) (human)
DNA:missense mutation:exon 10: p.R399Q (human)
DNA:missense mutation:exon 10: p.R399Q, 28152G>A (human)
DNA:missense mutation:exon 17: c.1804C>A, p.P602T (human)		 RGD PMID:24935603 PMID:25038912 PMID:15705867 PMID:17531525 PMID:20003463 More... RGD:11056906, RGD:151347450, RGD:151347439, RGD:151347426, RGD:151347422, RGD:151347416, RGD:151347407, RGD:151347172, RGD:151236316 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZFHX3 zinc finger homeobox 3 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr16:72,782,885...73,891,930
Ensembl chr16:72,782,885...73,891,871 		JBrowse link
G ZFHX3-AS1 ZFHX3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr16:72,665,133...72,821,654
Ensembl chr16:72,665,123...72,822,781
Ensembl chr16:72,665,123...72,822,781 		JBrowse link
G ZFTA zinc finger translocation associated IAGP HPO ORPHA:251636 NCBI chr11:63,759,892...63,768,775
Ensembl chr11:63,759,892...63,768,775 		JBrowse link
G ZNF521 zinc finger protein 521 IAGP ClinVar Annotator: match by term: Lung cancer ClinVar NCBI chr18:25,061,924...25,352,166
Ensembl chr18:25,061,924...25,352,190 		JBrowse link
Alveolar cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO MIM:211980 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CASP8 caspase 8 IAGP HPO MIM:211980 NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836 		JBrowse link
G CYP2A6 cytochrome P450 family 2 subfamily A member 6 IAGP HPO MIM:211980 NCBI chr19:40,843,541...40,850,447
Ensembl chr19:40,843,541...40,850,447 		JBrowse link
G EGFR epidermal growth factor receptor IAGP HPO MIM:211980 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP HPO MIM:211980 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:211980 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G FASLG Fas ligand IAGP HPO MIM:211980 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G IRF1 interferon regulatory factor 1 IAGP HPO MIM:211980 NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO MIM:211980 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G MAP3K8 mitogen-activated protein kinase kinase kinase 8 IAGP HPO MIM:211980 NCBI chr10:30,434,021...30,461,833
Ensembl chr10:30,434,021...30,461,833 		JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming IAGP HPO MIM:178500 NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO MIM:211980 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PPP2R1B protein phosphatase 2 scaffold subunit Abeta IAGP HPO MIM:211980 NCBI chr11:111,688,000...111,766,389
Ensembl chr11:111,726,908...111,766,389 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP HPO MIM:211980 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G SFTPA2 surfactant protein A2 IAGP HPO MIM:178500 NCBI chr10:79,555,852...79,560,407
Ensembl chr10:79,555,852...79,560,407 		JBrowse link
G SFTPC surfactant protein C IAGP HPO MIM:178500 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479 		JBrowse link
G SLC22A18 solute carrier family 22 member 18 IAGP HPO MIM:211980 NCBI chr11:2,899,691...2,925,246
Ensembl chr11:2,899,721...2,925,246 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO MIM:178500 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
Lung adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM19 ADAM metallopeptidase domain 19 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr 5:157,477,304...157,575,775
Ensembl chr 5:157,395,534...157,575,775 		JBrowse link
G ADAMTSL3 ADAMTS like 3 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr15:83,654,123...84,039,842
Ensembl chr15:83,654,088...84,039,842 		JBrowse link
G ADGRG6 adhesion G protein-coupled receptor G6 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266 		JBrowse link
G ALK ALK receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586 		JBrowse link
G ALX1 ALX homeobox 1 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G ARAF A-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar NCBI chr  X:47,561,205...47,571,908
Ensembl chr  X:47,561,205...47,571,908 		JBrowse link
G B2M beta-2-microglobulin IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP HPO MIM:614327 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Lung adenocarcinoma HPO
ClinVar		 PMID:12068308 PMID:12198537 PMID:12460919 PMID:12960123 PMID:14612909 More... MIM:211980 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CASP8 caspase 8 IAGP HPO MIM:211980 NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836 		JBrowse link
G CD163 CD163 molecule IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893 		JBrowse link
G CDK12 cyclin dependent kinase 12 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar NCBI chr17:39,461,486...39,567,559
Ensembl chr17:39,461,486...39,567,559 		JBrowse link
G CDK4 cyclin dependent kinase 4 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP ClinVar Annotator: match by term: Lung adenocarcinoma HPO
ClinVar		 ORPHA:1501 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 susceptibility IAGP DNA:missense mutation:CDS:p.D140E (rs7479004) RGD PMID:29667179 RGD:151660359 NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524 		JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr15:78,593,052...78,620,996
Ensembl chr15:78,593,052...78,621,295 		JBrowse link
G CHRNA5 cholinergic receptor nicotinic alpha 5 subunit IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr15:78,565,520...78,595,269
Ensembl chr15:78,565,520...78,595,269 		JBrowse link
G CSF1R colony stimulating factor 1 receptor susceptibility IAGP DNA:missense mutation:CDS:p.H362R (rs10079250) RGD PMID:25144241 RGD:150524283 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma HPO
ClinVar		 ORPHA:1501 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 susceptibility IAGP DNA:SNP:3' utr: (rs4809957) RGD PMID:22797725 RGD:151665791 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G CYP2A6 cytochrome P450 family 2 subfamily A member 6 IAGP HPO MIM:211980 NCBI chr19:40,843,541...40,850,447
Ensembl chr19:40,843,541...40,850,447 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G EGFR epidermal growth factor receptor IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar
HPO		 PMID:11423618 PMID:15118073 PMID:15118125 PMID:15272417 PMID:15329413 More... MIM:211980 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G EGFR-AS1 EGFR antisense RNA 1 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:11423618 PMID:15272417 PMID:15728811 PMID:15737014 PMID:15901872 More... NCBI chr 7:55,179,750...55,188,949
Ensembl chr 7:55,179,750...55,212,969 		JBrowse link
G EPHA5 EPH receptor A5 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar NCBI chr 4:65,319,567...65,670,489
Ensembl chr 4:65,319,563...65,670,495 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar
HPO		 PMID:15457249 PMID:15753357 PMID:16638863 PMID:18334834 PMID:22325357 More... MIM:211980 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:211980 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G FASLG Fas ligand IAGP HPO MIM:211980 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092 		JBrowse link
G FGF10 fibroblast growth factor 10 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 exacerbates IAGP RGD PMID:19296538 RGD:150429981 NCBI chr 5:177,086,915...177,098,144
Ensembl chr 5:177,086,905...177,098,144 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G FOXP2 forkhead box P2 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772 		JBrowse link
G FOXP4 forkhead box P4 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr 6:41,546,381...41,602,384
Ensembl chr 6:41,546,381...41,602,384 		JBrowse link
G FOXP4-AS1 FOXP4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr 6:41,523,895...41,548,621
Ensembl chr 6:41,436,972...41,562,194 		JBrowse link
G FPR2 formyl peptide receptor 2 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr19:51,761,180...51,770,531
Ensembl chr19:51,752,026...51,770,531 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HTR4 5-hydroxytryptamine receptor 4 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr 5:148,451,032...148,654,527
Ensembl chr 5:148,446,042...148,677,235 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IREB2 iron responsive element binding protein 2 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453 		JBrowse link
G IRF1 interferon regulatory factor 1 IAGP HPO MIM:211980 NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Lung adenocarcinoma HPO
ClinVar		 PMID:6320174 PMID:11745231 PMID:15696205 PMID:16051643 PMID:17704260 More... MIM:211980 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LOC110006318 serine/threonine kinase 11 intron 3 Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr19:1,219,531...1,219,844 JBrowse link
G LOC124849303 Sharpr-MPRA regulatory region 10890 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr13:28,321,172...28,321,466 JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar NCBI chr 3:41,224,408...41,225,607 JBrowse link
G LOC126860749 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:120466103-120467302 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr 9:117,703,825...117,705,024 JBrowse link
G LOC126861112 CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:1214179-1215378 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr11:1,192,954...1,194,152 JBrowse link
G LOC129996415 ATAC-STARR-seq lymphoblastoid silent region 17184 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr 6:41,546,328...41,547,007 JBrowse link
G LOC129996416 ATAC-STARR-seq lymphoblastoid silent region 17185 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr 6:41,547,078...41,547,257 JBrowse link
G LOC130002133 ATAC-STARR-seq lymphoblastoid silent region 20071 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 PMID:28492532 NCBI chr 9:95,508,202...95,508,521 JBrowse link
G LRP1B LDL receptor related protein 1B disease_progression IAGP DNA:mutations:multiple RGD PMID:18948947 RGD:11064706 NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G MAP3K8 mitogen-activated protein kinase kinase kinase 8 IAGP HPO MIM:211980 NCBI chr10:30,434,021...30,461,833
Ensembl chr10:30,434,021...30,461,833 		JBrowse link
G MLH1 mutL homolog 1 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896 		JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951 		JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 IAGP HPO MIM:618913 NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G PACRG parkin coregulated IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:12719539 NCBI chr 6:162,727,132...163,315,500
Ensembl chr 6:162,727,132...163,315,500 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Lung adenocarcinoma HPO
ClinVar		 MIM:211980 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PITX2 paired like homeodomain 2 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518 		JBrowse link
G PPP2R1B protein phosphatase 2 scaffold subunit Abeta IAGP HPO MIM:211980 NCBI chr11:111,688,000...111,766,389
Ensembl chr11:111,726,908...111,766,389 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1501 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar
HPO		 PMID:10072423 PMID:12719539 PMID:20301651 PMID:22956510 PMID:25741868 More... MIM:211980 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 PMID:28492532 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436 		JBrowse link
G RHOA ras homolog family member A IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998 		JBrowse link
G RIN3 Ras and Rab interactor 3 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr14:92,513,781...92,688,994
Ensembl chr14:92,513,781...92,688,994 		JBrowse link
G ROS1 ROS proto-oncogene 1, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr 6:117,287,353...117,425,942
Ensembl chr 6:117,287,353...117,425,942 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase exacerbates IAGP DNA:mutations:multiple RGD PMID:27687306 RGD:150429649 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SFTA3 surfactant associated 3 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr14:36,473,288...36,519,556
Ensembl chr14:36,473,207...36,521,149
Ensembl chr14:36,473,207...36,521,149 		JBrowse link
G SLC22A18 solute carrier family 22 member 18 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar
HPO		 PMID:27993330 MIM:211980 NCBI chr11:2,899,691...2,925,246
Ensembl chr11:2,899,721...2,925,246 		JBrowse link
G SMAD4 SMAD family member 4 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:1501 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TLR4 toll like receptor 4 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar PMID:27993330 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar
HPO		 PMID:1565144 PMID:1631137 PMID:2046748 PMID:7732013 PMID:8423216 More... MIM:151623 ORPHA:1501 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 IAGP ClinVar Annotator: match by term: Lung adenocarcinoma ClinVar NCBI chr21:43,092,956...43,107,578
Ensembl chr21:43,092,956...43,107,570 		JBrowse link
G ZFHX3 zinc finger homeobox 3 ameliorates IAGP DNA:mutations:multiple RGD PMID:32653938 RGD:151361163 NCBI chr16:72,782,885...73,891,930
Ensembl chr16:72,782,885...73,891,871 		JBrowse link
G ZNRF3 zinc and ring finger 3 IAGP HPO ORPHA:1501 NCBI chr22:28,883,572...29,057,488
Ensembl chr22:28,883,572...29,057,488 		JBrowse link
Non-small cell lung carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Non-small cell lung carcinoma ClinVar NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586 		JBrowse link
G ARAF A-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Non-small cell lung cancer ClinVar NCBI chr  X:47,561,205...47,571,908
Ensembl chr  X:47,561,205...47,571,908 		JBrowse link
G ATM ATM serine/threonine kinase susceptibility IAGP DNA:SNPs,haplotypes:intron: (rs227060, rs170548) (human) RGD PMID:17582598 RGD:150383340 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G BIRC3 baculoviral IAP repeat containing 3 ameliorates IAGP DNA:SNP:intron: (rs11225211) RGD PMID:32905523 RGD:153297804 NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Non-small cell lung cancer
ClinVar Annotator: match by term: Non-small cell lung carcinoma		 ClinVar
HPO		 PMID:2102266 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 More... MIM:211980 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CASP8 caspase 8 IAGP HPO MIM:211980 NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836 		JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit susceptibility IGI DNA:SNP:exon: (rs1051730) (human) RGD PMID:21747048 RGD:151660346 NCBI chr15:78,593,052...78,620,996
Ensembl chr15:78,593,052...78,621,295 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 disease_progression
susceptibility		 IAGP DNA:SNP:intron 4: (rs3787554)
DNA:SNPs:multiple
DNA:SNPs:CDS, 3' utr: (rs6068816, rs4809957)
DNA:SNP:exon, intron: (rs6068816, rs2181874) 		RGD PMID:23435876 PMID:29726119 PMID:25544771 PMID:27669215 RGD:151361182, RGD:151708739, RGD:151665789, RGD:151665175 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G CYP2A6 cytochrome P450 family 2 subfamily A member 6 IAGP HPO MIM:211980 NCBI chr19:40,843,541...40,850,447
Ensembl chr19:40,843,541...40,850,447 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Non-small cell lung carcinoma ClinVar NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G EGFR epidermal growth factor receptor IAGP ClinVar Annotator: match by term: Non-small cell lung cancer
ClinVar Annotator: match by term: Non-small cell lung carcinoma		 ClinVar
HPO		 PMID:11423618 PMID:15118073 PMID:15118125 PMID:15272417 PMID:15623594 More... MIM:211980 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G EGFR-AS1 EGFR antisense RNA 1 IAGP ClinVar Annotator: match by term: Non-small cell lung cancer
ClinVar Annotator: match by term: Non-small cell lung carcinoma		 ClinVar PMID:11423618 PMID:15272417 PMID:15623594 PMID:15728811 PMID:15737014 More... NCBI chr 7:55,179,750...55,188,949
Ensembl chr 7:55,179,750...55,212,969 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Non-small cell lung cancer
ClinVar Annotator: match by term: Non-small cell lung carcinoma		 ClinVar
HPO		 PMID:15457249 PMID:15753357 PMID:16638863 PMID:16863509 PMID:18334834 More... MIM:211980 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment IAGP DNA:SNPs:multiple RGD PMID:28924235 RGD:153323316 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit treatment IAGP DNA:SNPs:multiple RGD PMID:28924235 RGD:153323316 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease treatment IAGP DNA:SNPs:multiple RGD PMID:24782167 PMID:28924235 RGD:151347410, RGD:153323316 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor treatment IAGP DNA:SNP:intron: (rs4253002) HPO
RGD		 PMID:28924235 MIM:211980, RGD:153323316 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G FASLG Fas ligand IAGP HPO MIM:211980 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FAT1 FAT atypical cadherin 1 treatment IAGP RGD PMID:31085721 RGD:151347689 NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722 		JBrowse link
G FGFR4 fibroblast growth factor receptor 4 severity IAGP DNA:SNP:exon 9: p.G3888R (rs351855) (human) RGD PMID:23524567 RGD:150429982 NCBI chr 5:177,086,915...177,098,144
Ensembl chr 5:177,086,905...177,098,144 		JBrowse link
G FH fumarate hydratase severity IAGP DNA:SNP: (rs1414493) (human) RGD PMID:25576295 RGD:150340558 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Non-small cell lung cancer ClinVar PMID:2674130 PMID:3004741 PMID:3283542 PMID:3304147 PMID:6287572 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 severity IAGP DNA:SNP: (rs11540478) (human) RGD PMID:25576295 RGD:150340558 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G IRF1 interferon regulatory factor 1 IAGP ClinVar Annotator: match by term: Non-small cell lung cancer ClinVar
HPO		 PMID:10395927 MIM:211980 NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Non-small cell lung cancer
ClinVar Annotator: match by term: Non-small cell lung carcinoma		 ClinVar
HPO		 PMID:1875403 PMID:2547513 PMID:3627975 PMID:6320174 PMID:6695174 More... MIM:211980 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LRP1B LDL receptor related protein 1B ameliorates IAGP DNA:mutations:multiple: RGD PMID:31164891 RGD:150429775 NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Non-small cell lung cancer ClinVar PMID:2674130 PMID:3004741 PMID:3283542 PMID:3304147 PMID:6287572 More... NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP ClinVar Annotator: match by term: Non-small cell lung carcinoma ClinVar PMID:18632602 PMID:25741868 PMID:29643386 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 ameliorates IAGP DNA:SNP:intron: (rs12452497)(human) RGD PMID:26165383 RGD:11521299 NCBI chr17:12,020,877...12,143,828
Ensembl chr17:12,020,829...12,143,830 		JBrowse link
G MAP2K7 mitogen-activated protein kinase kinase 7 susceptibility IAGP DNA:SNP:3' utr: (rs3679) RGD PMID:27861856 RGD:155230827 NCBI chr19:7,903,877...7,914,478
Ensembl chr19:7,903,843...7,914,478 		JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 severity IAGP DNA:SNPs:5'-UTR, intron 1: (rs17661089, rs16886403, rs726501) RGD PMID:21636554 RGD:150573805 NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152 		JBrowse link
G MAP3K8 mitogen-activated protein kinase kinase kinase 8 IAGP HPO MIM:211980 NCBI chr10:30,434,021...30,461,833
Ensembl chr10:30,434,021...30,461,833 		JBrowse link
G MCL1 MCL1 apoptosis regulator, BCL2 family member disease_progression IAGP DNA:mutations:multiple RGD PMID:27264345 RGD:151356758 NCBI chr 1:150,574,558...150,579,610
Ensembl chr 1:150,560,895...150,579,738 		JBrowse link
G NCOA2 nuclear receptor coactivator 2 IAGP DNA:SNPs:introns: (rs2926702, rs11993276) RGD PMID:23144319 RGD:153002581 NCBI chr 8:70,109,782...70,456,446
Ensembl chr 8:70,109,782...70,403,808 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Non-small cell lung carcinoma
ClinVar Annotator: match by term: Non-small cell lung cancer		 ClinVar PMID:1654209 PMID:6587382 PMID:12727991 PMID:14508525 PMID:18633438 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Non-small cell lung cancer
ClinVar Annotator: match by term: Non-small cell lung carcinoma		 ClinVar
HPO		 PMID:15016963 PMID:15520168 PMID:15608678 PMID:15930273 PMID:17376864 More... MIM:211980 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PPP2R1B protein phosphatase 2 scaffold subunit Abeta IAGP HPO MIM:211980 NCBI chr11:111,688,000...111,766,389
Ensembl chr11:111,726,908...111,766,389 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP HPO MIM:211980 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G RAD21 RAD21 cohesin complex component susceptibility IAGP DNA:SNP:intron: (rs1374297) RGD PMID:28977903 RGD:150520036 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G RAD52 RAD52 homolog, DNA repair protein susceptibility IAGP DNA:SNPs,haplotype:multiple RGD PMID:32401173 RGD:151660355 NCBI chr12:911,736...991,122
Ensembl chr12:911,736...990,053 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A susceptibility IAGP DNA:SNP: 3'utr (rs13173911) (human) RGD PMID:25576295 RGD:150340558 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C exacerbates IAGP DNA:SNP: 3'utr (rs12064957) (human) RGD PMID:25576295 RGD:150340558 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SLC22A18 solute carrier family 22 member 18 IAGP HPO MIM:211980 NCBI chr11:2,899,691...2,925,246
Ensembl chr11:2,899,721...2,925,246 		JBrowse link
G SLC3A2 solute carrier family 3 member 2 severity IAGP DNA:SNP:5'utr: (rs105929) (human) RGD PMID:24782339 RGD:152995443 NCBI chr11:62,856,109...62,888,860
Ensembl chr11:62,856,004...62,888,880 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 IAGP HPO ORPHA:137605 NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Non-small cell lung carcinoma ClinVar NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP DNA:mutations:multiple RGD PMID:32554069 RGD:150429694 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G TP73 tumor protein p73 treatment IAGP DNA:SNP:intron: (rs3765701) RGD PMID:21965272 RGD:151347589 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility
treatment
severity		 IAGP DNA:missense mutations:cds:p.R194W, p.R399Q (human)
DNA:SNP:5'utr: 77T>C (rs3213245) (human)
DNA:SNP:3'utr: (rs25487) (human)
DNA:missense mutation:cds: p.R194W (human)		 RGD PMID:25308691 PMID:16652158 PMID:15301704 PMID:24446315 PMID:26345972 More... RGD:151232295, RGD:151232296, RGD:151347427, RGD:11097268, RGD:11251107, RGD:151347410, RGD:151347402, RGD:151347175, RGD:11538163, RGD:151232297 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473 		JBrowse link
G ZFHX3 zinc finger homeobox 3 ameliorates IAGP DNA:mutations:multiple RGD PMID:32653938 RGD:151361163 NCBI chr16:72,782,885...73,891,930
Ensembl chr16:72,782,885...73,891,871 		JBrowse link
Pleuropulmonary blastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DICER1 dicer 1, ribonuclease III IAGP ClinVar Annotator: match by term: Pleuropulmonary blastoma ClinVar
HPO		 PMID:16199547 PMID:19556464 PMID:21036787 PMID:21266384 PMID:21501861 More... MIM:180295 MIM:601200 ORPHA:276399 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 IAGP HPO ORPHA:276399 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558 		JBrowse link
Pulmonary lymphangiomyomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNG interferon gamma IAGP HPO MIM:613254 ORPHA:805 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G LOC130058210 ATAC-STARR-seq lymphoblastoid silent region 7024 IAGP ClinVar Annotator: match by term: Lymphangioleiomyomatosis ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29655203 NCBI chr16:2,048,019...2,048,248 JBrowse link
G NTHL1 nth like DNA glycosylase 1 IAGP ClinVar Annotator: match by term: Lymphangioleiomyomatosis ClinVar PMID:25741868 PMID:28492532 NCBI chr16:2,039,820...2,047,834
Ensembl chr16:2,039,815...2,047,866 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Lymphangioleiomyomatosis ClinVar PMID:25741868 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Lymphangioleiomyomatosis ClinVar
HPO		 PMID:5279523 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 More... MIM:191100 MIM:606690 ORPHA:538 ORPHA:805 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Lymphangioleiomyomatosis ClinVar
HPO		 PMID:5279523 PMID:8824881 PMID:9076719 PMID:9285776 PMID:9302281 More... MIM:606690 MIM:613254 ORPHA:538 ORPHA:805 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
Small cell lung carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G ATM ATM serine/threonine kinase susceptibility IAGP DNA:SNP:intron:(rs227060) (human) RGD PMID:28642860 RGD:150383339 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G B2M beta-2-microglobulin IAGP ClinVar Annotator: match by term: Small cell lung cancer ClinVar NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G CDC27 cell division cycle 27 IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr17:47,117,703...47,189,295
Ensembl chr17:47,117,703...47,189,422 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 susceptibility IAGP DNA:SNP:CDS: (rs6068816)
DNA:SNP:3' utr: (rs4809957) 		RGD PMID:31264381 PMID:22797725 RGD:151665340, RGD:151665791 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G DSPP dentin sialophosphoprotein IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873 		JBrowse link
G FAT1 FAT atypical cadherin 1 IAGP DNA:mutations:multiple (human) RGD PMID:31199602 RGD:150429733 NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G KDM6A lysine demethylase 6A IAGP DNA:mutations:multiple: RGD PMID:31199602 RGD:150429733 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KMT2C lysine methyltransferase 2C IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644 		JBrowse link
G LOC123956272 Sharpr-MPRA regulatory region 15588 IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr 7:152,265,024...152,265,318 JBrowse link
G LOC126806930 BRD4-independent group 4 enhancer GRCh37_chr3:195505212-195506411 IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr 3:195,778,341...195,779,540 JBrowse link
G LRP1B LDL receptor related protein 1B IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr 2:140,231,423...142,131,016
Ensembl chr 2:140,231,423...142,131,016 		JBrowse link
G MUC16 mucin 16, cell surface associated IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr19:8,848,844...9,065,751
Ensembl chr19:8,848,844...9,010,390 		JBrowse link
G MUC19 mucin 19, oligomeric (gene/pseudogene) IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr12:40,393,394...40,570,757
Ensembl chr12:40,393,395...40,570,832 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr11:1,074,874...1,110,508
Ensembl chr11:1,074,875...1,110,511 		JBrowse link
G MUC3A mucin 3A, cell surface associated IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr 7:100,949,534...100,968,347
Ensembl chr 7:100,949,534...100,968,347 		JBrowse link
G MUC4 mucin 4, cell surface associated IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr 3:195,746,771...195,811,929
Ensembl chr 3:195,746,765...195,811,973 		JBrowse link
G MUC6 mucin 6, oligomeric mucus/gel-forming (gene/pseudogene) IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr11:1,012,823...1,036,718
Ensembl chr11:1,012,823...1,036,718 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Small cell lung cancer ClinVar NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G RAD52 RAD52 homolog, DNA repair protein susceptibility
treatment		 IAGP DNA:SNP:3'utr: (rs7963551) (human)
DNA:SNP: (rs10774474)(human)		 RGD PMID:26629180 PMID:27531263 RGD:151660337, RGD:151660339 NCBI chr12:911,736...991,122
Ensembl chr12:911,736...990,053 		JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP ClinVar Annotator: match by term: Small cell lung carcinoma
ClinVar Annotator: match by term: Small cell lung cancer
ClinVar Annotator: match by term: Oat cell carcinoma of lung		 ClinVar PMID:1352883 PMID:2594029 PMID:2601691 PMID:7881418 PMID:8651278 More... NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436 		JBrowse link
G SLC25A5 solute carrier family 25 member 5 IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr  X:119,468,444...119,471,396
Ensembl chr  X:119,468,422...119,471,396 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TP73 tumor protein p73 IAGP DNA:mutations:multiple: RGD PMID:26168399 RGD:151347582 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201 		JBrowse link
G UBXN11 UBX domain protein 11 IAGP ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr 1:26,282,282...26,318,355
Ensembl chr 1:26,281,328...26,318,363 		JBrowse link
Squamous cell lung carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586 		JBrowse link
G ATM ATM serine/threonine kinase susceptibility IAGP DNA:SNP:intron:(rs228589) (human) RGD PMID:28642860 RGD:150383339 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G B2M beta-2-microglobulin IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar PMID:8552400 PMID:8573142 PMID:9053859 PMID:9660926 PMID:10498896 More... NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CHRNB4 cholinergic receptor nicotinic beta 4 subunit susceptibility IAGP DNA:SNP:: (rs7178270) (human) RGD PMID:23397474 RGD:151361148 NCBI chr15:78,624,111...78,661,641
Ensembl chr15:78,624,111...78,727,754 		JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 susceptibility IAGP DNA:SNP:3' utr: (rs4809957) RGD PMID:22797725 RGD:151665791 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G EGFR epidermal growth factor receptor IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar PMID:20942962 PMID:24033266 PMID:25382819 PMID:25741868 PMID:27294619 More... NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G EGFR-AS1 EGFR antisense RNA 1 IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:55,179,750...55,188,949
Ensembl chr 7:55,179,750...55,212,969 		JBrowse link
G EP300 E1A binding protein p300 IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G EPHA2 EPH receptor A2 IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar NCBI chr 1:16,124,337...16,156,069
Ensembl chr 1:16,124,337...16,156,069 		JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar PMID:8589699 PMID:10471491 PMID:11038465 PMID:11879084 PMID:15772091 More... NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G H3C2 H3 clustered histone 2 IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar NCBI chr 6:26,031,589...26,032,099
Ensembl chr 6:26,031,589...26,032,099 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar PMID:16372351 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar PMID:25741868 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar PMID:6695174 PMID:15696205 PMID:17704260 PMID:26242988 PMID:28492532 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LOC129996007 ATAC-STARR-seq lymphoblastoid active region 24180 IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar NCBI chr 6:26,032,006...26,032,125 JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar PMID:16372351 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar PMID:25741868 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G MED12 mediator complex subunit 12 IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar PMID:25741868 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PPP6C protein phosphatase 6 catalytic subunit IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar NCBI chr 9:125,146,573...125,189,803
Ensembl chr 9:125,146,573...125,189,939 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RAD52 RAD52 homolog, DNA repair protein susceptibility IAGP DNA:SNP: (rs6489769) (human) RGD PMID:22585858 RGD:151660345 NCBI chr12:911,736...991,122
Ensembl chr12:911,736...990,053 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
Tracheobronchial leiomyomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A5 collagen type IV alpha 5 chain IAGP HPO ORPHA:1018 NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G COL4A6 collagen type IV alpha 6 chain IAGP HPO ORPHA:1018 NCBI chr  X:108,155,614...108,439,458
Ensembl chr  X:108,155,607...108,439,497 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Abnormality of the respiratory system 5359
        Neoplasm of the respiratory system 908
          Neoplasm of the lung 870
            Lung fibroma 0
            Neoplasm of the tracheobronchial system + 22
            Non-small cell lung carcinoma + 725
            Pulmonary chondroma 0
            Pulmonary cylindroma 0
            Pulmonary hamartoma 0
            Pulmonary lymphangiomyomatosis 6
            Pulmonary lymphoma 0
            Pulmonary paraglioma 0
            Small cell lung carcinoma 81
Path 2
Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Abnormality of the respiratory system 5359
        Abnormal respiratory system physiology 5071
          Abnormal respiratory system morphology 2716
            Abnormal lung morphology 2434
              Neoplasm of the lung 870
                Lung fibroma 0
                Neoplasm of the tracheobronchial system + 22
                Non-small cell lung carcinoma + 725
                Pulmonary chondroma 0
                Pulmonary cylindroma 0
                Pulmonary hamartoma 0
                Pulmonary lymphangiomyomatosis 6
                Pulmonary lymphoma 0
                Pulmonary paraglioma 0
                Small cell lung carcinoma 81
paths to the root