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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:cell type benign neoplasm
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Accession:DOID:0060084 term browser browse the term
Definition:A benign neoplasm that is classified by the type of cell or tissue from which it is derived. (DO)
For additional species annotation, visit the Alliance of Genome Resources.


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ACTH-secreting pituitary adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aip aryl-hydrocarbon receptor-interacting protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PITUITARY ADENOMA 4, ACTH-SECRETING
CTD
ClinVar
PMID:17360484 PMID:18381572 PMID:19366855 PMID:20506337 PMID:20530095 PMID:21454441 PMID:21753072 PMID:22319033 PMID:22720333 PMID:23300914 PMID:23321498 PMID:23633209 PMID:24033266 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25741868 PMID:27153395 PMID:28492532 PMID:29074612 PMID:30461320 PMID:32324286 NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
JBrowse link
G Avpr1b arginine vasopressin receptor 1B ISO RGD PMID:23884782 RGD:14700670 NCBI chr13:48,367,307...48,378,831
Ensembl chr13:48,367,307...48,378,831
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16195406 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
PMID:25485838 NCBI chr 3:119,173,818...119,222,499
Ensembl chr 3:119,173,818...119,222,484
JBrowse link
adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21544799 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Aip aryl-hydrocarbon receptor-interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975028 NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18927292 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17684125 NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO DNA:frameshift mutations, nonsense mutations:exon:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:9111214 PMID:10383901 PMID:12034317 PMID:19092804 PMID:30188895, PMID:11677205 RGD:2317202 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23416519 PMID:23913004 NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
JBrowse link
G Atp2a3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23913004 NCBI chr10:59,528,849...59,560,440
Ensembl chr10:59,529,785...59,560,433
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23416519 NCBI chr  X:157,236,400...157,312,028
Ensembl chr  X:157,239,306...157,312,028
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10223192 PMID:10426811 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10426811 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD PMID:23913001 PMID:23913004 NCBI chr16:6,110,294...6,405,022
Ensembl chr16:6,112,150...6,405,117
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10223192 PMID:10965019 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11376689 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO protein:decreased expression: : RGD PMID:24080855 RGD:10401654 NCBI chr14:113,202,382...113,294,993
Ensembl chr14:113,202,419...113,295,014
JBrowse link
G Esr2 estrogen receptor 2 ISO ratio with Esr1;mRNA:decreased expression:thyroid gland (human) RGD PMID:11721176 RGD:8694118 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16926031 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16926031 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1611713 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Ins2 insulin 2 ISO protein:increased secretion:serum RGD PMID:12917331 RGD:2317273 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23913001 PMID:23913004 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link
G Klf5 Kruppel-like factor 5 ISO RGD PMID:14726538 RGD:1304288 NCBI chr15:83,703,796...83,722,921
Ensembl chr15:83,703,791...83,722,921
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8761429 PMID:10545420 PMID:10813127 PMID:25851810 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Men1 menin 1 ISO DNA:deletion:exons RGD PMID:12917331 RGD:2317273 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Mir144 microRNA 144 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr10:65,291,365...65,291,447
Ensembl chr10:65,291,365...65,291,447
JBrowse link
G Mir345 microRNA 345 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 6:132,748,968...132,749,063
Ensembl chr 6:132,748,968...132,749,063
JBrowse link
G Mir425 microRNA 425 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 8:117,354,821...117,354,903
Ensembl chr 8:117,354,821...117,354,903
JBrowse link
G Mir497 microRNA 497 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr10:56,844,977...56,845,045
Ensembl chr10:56,844,977...56,845,045
JBrowse link
G Mir500 microRNA 500 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr  X:16,121,332...16,121,411
Ensembl chr  X:16,121,322...16,121,413
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17389618 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO CTD Direct Evidence: marker/mechanism CTD PMID:12468628 NCBI chr 1:214,663,929...214,693,197 JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO protein:increased expression:gallbladder RGD PMID:15100237 RGD:2326070 NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2274009 PMID:12058109 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Ptma prothymosin alpha ISO CTD Direct Evidence: therapeutic CTD PMID:10822126 NCBI chr 9:93,545,396...93,549,436
Ensembl chr 9:93,545,396...93,549,436
JBrowse link
G Selenop selenoprotein P ISO CTD Direct Evidence: marker/mechanism CTD PMID:18483336 NCBI chr 2:53,105,912...53,116,198
Ensembl chr 2:53,109,684...53,114,858
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16963246 NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr10:67,325,101...67,371,588
Ensembl chr10:67,325,347...67,369,668
JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17389618 NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21946351 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17823441 NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8413627 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link
G Txnrd1 thioredoxin reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18483336 NCBI chr 7:26,946,124...26,984,400
Ensembl chr 7:26,946,125...26,984,400
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16061637 NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
JBrowse link
Adenomatous Polyps term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:12810952 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Cdx2 caudal type homeo box 2 ISO RGD PMID:9052785 RGD:734757 NCBI chr12:9,464,026...9,470,565
Ensembl chr12:9,464,026...9,470,565
JBrowse link
G Defa5 defensin alpha 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15844706 NCBI chr16:75,338,050...75,340,401
Ensembl chr16:75,338,052...75,340,360
JBrowse link
adrenal cortical adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma ClinVar PMID:23416519 NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma ClinVar PMID:23416519 NCBI chr  X:157,236,400...157,312,028
Ensembl chr  X:157,239,306...157,312,028
JBrowse link
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 ISO mRNA:decreased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO mRNA:increased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO mRNA:increased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISO associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human) RGD PMID:24855271 RGD:13515122 NCBI chr19:25,095,089...25,118,869
Ensembl chr19:25,095,089...25,118,860
JBrowse link
G Prkacb protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669941 NCBI chr 2:252,602,197...252,691,886
Ensembl chr 2:252,605,307...252,691,886
JBrowse link
ameloblastoma 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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
JBrowse link
angiokeratoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha ISO CTD Direct Evidence: therapeutic CTD PMID:19925601 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chr 7:123,563,047...123,572,074
Ensembl chr 7:123,563,059...123,572,082
JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ogg1 8-oxoguanine DNA glycosylase no_association ISO associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney
associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human)
associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human)
RGD PMID:19265534, PMID:17932460, PMID:17932460 RGD:8657154, RGD:8657155, RGD:8657155 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tsc2 TSC complex subunit 2 ISO associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney RGD PMID:19265534 RGD:8657154 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Ifna1 interferon, alpha 1 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 5:106,951,822...106,952,908
Ensembl chr 5:106,952,082...106,952,792
JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il12b interleukin 12B treatment ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559, PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il4 interleukin 4 treatment ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559, PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Klrk1 killer cell lectin like receptor K1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
Ensembl chr 9:101,307,764...101,319,845
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
JBrowse link
G Serpinf1 serpin family F member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:28,486,836...28,513,004
Ensembl chr  X:28,486,869...28,512,957
JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:28,539,158...28,562,803
Ensembl chr  X:28,539,158...28,562,803
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
JBrowse link
Arteriovenous Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment IEP
IMP
protein:increased activity:heart left ventricle (rat) RGD PMID:22768235, PMID:8386093 RGD:12859285, RGD:12880017 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ackr1 atypical chemokine receptor 1 IEP RGD PMID:24429330 RGD:9681736 NCBI chr13:91,827,310...91,828,875 JBrowse link
G Angpt2 angiopoietin 2 IEP mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G Arrb1 arrestin, beta 1 IEP mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr 1:164,502,099...164,573,947
Ensembl chr 1:164,502,389...164,593,139
JBrowse link
G Arrb2 arrestin, beta 2 IEP mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr10:57,040,252...57,048,045
Ensembl chr10:57,040,267...57,048,134
JBrowse link
G Col1a1 collagen type I alpha 1 chain IEP in Long Evans rats;mRNA:increased expression:aorta RGD PMID:16428894 RGD:8552771 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Des desmin IEP RGD PMID:10591032 RGD:13525010 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:10541235 RGD:8655590 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IEP
ISO
protein:increased expression:ileal vein RGD PMID:17398390, PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP
ISO
RGD PMID:17398390, PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 IEP protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chr 4:147,156,948...147,163,467
Ensembl chr 4:147,156,948...147,163,467
JBrowse link
G Vegfa vascular endothelial growth factor A IEP
ISO
protein:increased expression:brain cortex, brain dura mater: RGD PMID:24626343, PMID:10541235 RGD:8551823, RGD:8655590 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
arteriovenous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO RGD PMID:11062473 RGD:1300250 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
JBrowse link
G Eng endoglin susceptibility ISO associated with Telangiectasia, Hereditary Hemorrhagic; RGD PMID:8728706, PMID:24520391 RGD:11041184, RGD:11041564 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Glmn glomulin, FKBP associated protein ISO glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chr14:3,204,390...3,247,703
Ensembl chr14:3,204,390...3,247,695
JBrowse link
G Map2 microtubule-associated protein 2 IEP protein:decreased expression:hippocampus RGD PMID:20873448 RGD:6483324 NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16720380 RGD:1582655 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14639529, PMID:15917201 RGD:1581296 NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
JBrowse link
G Tek TEK receptor tyrosine kinase susceptibility ISO DNA:missense mutation: :p.R849W RGD PMID:8980225 RGD:1578533 NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
JBrowse link
arteriovenous malformations of the brain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISS OMIM:108010 MouseDO NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 2:8,926,843...9,504,455
Ensembl chr 2:8,926,850...9,504,134
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr18:8,146,971...8,366,037
Ensembl chr18:8,146,971...8,360,684
JBrowse link
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Eng endoglin disease_progression ISO
ISS
DNA:polymorphism: : 207G>A(human)
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
OMIM:108010
ClinVar
MouseDO
PMID:25741868, PMID:24876084, PMID:24520391 RGD:11041171, RGD:11041564 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Il17rd interleukin 17 receptor D ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053 PMID:25741868 NCBI chr16:2,670,471...2,737,271
Ensembl chr16:2,670,618...2,731,808
JBrowse link
G Il6 interleukin 6 ISO OMIM NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain OMIM
ClinVar
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:21079152 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22025163 PMID:22235099 PMID:22407852 PMID:22499344 PMID:22683711 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23406027 PMID:24033266 PMID:25044103 PMID:25157968 PMID:25695684 PMID:26372703 PMID:28492532 PMID:29298116 PMID:31891627 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
JBrowse link
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:62,976,671...63,045,860
Ensembl chr 7:62,996,336...63,045,728
JBrowse link
G Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 9:46,657,444...46,782,545
Ensembl chr 9:46,657,575...46,782,545
JBrowse link
G Notch4 notch receptor 4 ISO
ISS
OMIM:108010 MouseDO PMID:19546852 RGD:6480671 NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:58,618,679...58,722,679
Ensembl chr10:58,618,645...58,693,754
JBrowse link
G Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:7,622,668...7,941,715
Ensembl chr 5:7,627,771...7,941,822
JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 2:211,219,743...211,235,475
Ensembl chr 2:211,219,750...211,235,467
JBrowse link
G Scube2 signal peptide, CUB domain and EGF like domain containing 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 1:174,428,056...174,495,356
Ensembl chr 1:174,428,699...174,495,258
JBrowse link
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:23,403,896...23,808,602
Ensembl chr 7:23,403,891...23,808,602
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:16388189 RGD:1580567 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Zfyve16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 2:22,060,879...22,105,822
Ensembl chr 2:22,062,050...22,105,710
JBrowse link
Attenuated Adenomatous Polyposis Coli term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Brain tumor-polyposis syndrome 2 ClinVar PMID:1316610 PMID:1324223 PMID:8990002 PMID:9950360 PMID:11317365 PMID:20223039 PMID:20685668 PMID:25741868 PMID:28492532 PMID:28944238 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 ISO ClinVar Annotator: match by term: Adenomatous polyposis coli, attenuated ClinVar PMID:19617566 PMID:20551049 PMID:22461326 PMID:24038392 PMID:26845104 PMID:28492532 PMID:29095867 PMID:29596542 NCBI chr 5:62,718,733...62,751,345
Ensembl chr 5:62,718,787...62,750,145
JBrowse link
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar PMID:15930273 PMID:17376864 PMID:18829572 PMID:19366826 PMID:21824802 PMID:22120714 PMID:22729224 PMID:22949682 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:28941273 PMID:31568861 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pten phosphatase and tensin homolog ISO
ISS
ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
OMIM:153480
ClinVar
MouseDO
PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 PMID:9598803 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10749983 PMID:10848731 PMID:10920277 PMID:10923032 PMID:11504908 PMID:11685670 PMID:14518070 PMID:15016963 PMID:15211648 PMID:15254419 PMID:15647370 PMID:16952599 PMID:17392703 PMID:17526800 PMID:17873882 PMID:17941496 PMID:18558293 PMID:18725974 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19458356 PMID:19829307 PMID:19903786 PMID:20018398 PMID:20085938 PMID:20453058 PMID:20600018 PMID:20619739 PMID:20881644 PMID:21194675 PMID:21343951 PMID:21659347 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22281088 PMID:22381246 PMID:22479427 PMID:22491738 PMID:22520842 PMID:23335809 PMID:23349303 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:23886400 PMID:24033266 PMID:24052722 PMID:24778394 PMID:25157968 PMID:25288137 PMID:25326635 PMID:25669429 PMID:25741868 PMID:25756585 PMID:26376867 PMID:26773036 PMID:27426521 PMID:27477328 PMID:27959697 PMID:28286253 PMID:28492532 PMID:28526761 PMID:29663862 PMID:30287823 PMID:32238909 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA ClinVar PMID:18678321 PMID:21565294 PMID:21979946 PMID:28492532 PMID:29386252 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
JBrowse link
bile duct adenoma 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 DNA:missense mutation:cds:p.V600E (human) RGD PMID:25704541 RGD:11521169 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
Bowen's Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29103775 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Ccne1 cyclin E1 ISO associated with Vulvar Neoplasms;mRNA:increased expression:vulva RGD PMID:17471573 RGD:2289255 NCBI chr 1:94,485,830...94,495,112
Ensembl chr 1:94,485,832...94,494,980
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:skin: RGD PMID:10583111 RGD:8662826 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Nrf1 nuclear respiratory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21514422 NCBI chr 4:57,335,732...57,445,317
Ensembl chr 4:57,378,069...57,445,341
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21514422 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Tfam transcription factor A, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:21514422 NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link
breast fibroadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt7b Wnt family member 7B ISO RGD PMID:8168088 RGD:2291878 NCBI chr 7:126,423,418...126,465,724
Ensembl chr 7:126,420,656...126,465,723
JBrowse link
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sash1 SAM and SH3 domain containing 1 ISO ClinVar Annotator: match by term: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA OMIM
ClinVar
PMID:25315659 NCBI chr 1:2,782,905...2,950,749
Ensembl chr 1:2,782,864...2,846,200
JBrowse link
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangiomas ClinVar PMID:25741868 NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683
JBrowse link
Capillary Malformation-Arteriovenous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation ClinVar PMID:14639529 PMID:18446851 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28295764 PMID:28492532 PMID:29891884 NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
JBrowse link
G Rasa1 RAS p21 protein activator 1 susceptibility ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:14639529 PMID:18446851 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28295764 PMID:28492532 PMID:29171923 PMID:29891884 PMID:30120215, PMID:14639529 RGD:734495 NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
JBrowse link
G Stambp Stam binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr 4:115,249,343...115,277,340
Ensembl chr 4:115,249,351...115,275,068
JBrowse link
Capillary Malformation-Arteriovenous Malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:14639529 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28492532 PMID:29120072 NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 OMIM
ClinVar
PMID:14639529 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28492532 PMID:29120072 NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
JBrowse link
Capillary Malformation-Arteriovenous Malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2
ClinVar
OMIM
PMID:25741868 PMID:28687708 PMID:28730721 PMID:29444212 PMID:30578106 NCBI chr12:22,393,338...22,418,332
Ensembl chr12:22,393,330...22,417,980
JBrowse link
G Slc12a9 solute carrier family 12, member 9 ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 ClinVar PMID:28687708 NCBI chr12:22,434,845...22,451,265
Ensembl chr12:22,434,814...22,451,263
JBrowse link
Carney Triad term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26490314 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29872718 PMID:30068732 NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 PMID:17200167 PMID:17667967 PMID:17884808 PMID:19001511 PMID:19215943 PMID:19802898 PMID:21820839 PMID:23282968 PMID:24033266 PMID:25371406 PMID:25683602 PMID:25741868 PMID:25972245 PMID:26173966 PMID:26467025 PMID:26916530 PMID:28070496 PMID:28152038 PMID:28349240 PMID:28374168 PMID:28492532 PMID:28738844 PMID:29386252 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:12658451 PMID:17667967 PMID:17804857 PMID:19351833 PMID:21173220 PMID:21822798 PMID:24402737 PMID:26173966 PMID:28492532 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
JBrowse link
cavernous hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:25741868 NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:10545614 PMID:23595507 PMID:24466005 PMID:25741868 PMID:28492532 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
Central Nervous System Venous Angioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
JBrowse link
cerebellar angioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
JBrowse link
cerebral cavernous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
JBrowse link
G Ccm2 CCM2 scaffold protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD
ClinVar
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532 NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing susceptibility ISO
ISS
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar Annotator: match by OMIM:116860
MouseDO
ClinVar
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11959162 PMID:12404106 PMID:12810002 PMID:12854741 PMID:15079030 PMID:17187287 PMID:17211633 PMID:18383588 PMID:19088123 PMID:19454328 PMID:20419355 PMID:20798775 PMID:21029238 PMID:23584803 PMID:23595507 PMID:24401931 PMID:24466005 PMID:24689081 PMID:24721395 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28645800 PMID:28745674 PMID:30161288, PMID:14755725, PMID:15079030 RGD:1358458, RGD:1598379 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:28492532 NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
JBrowse link
cerebral cavernous malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 1 ClinVar
OMIM
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11222804 PMID:11310633 PMID:11914398 PMID:11941540 PMID:12404106 PMID:12854741 PMID:17562932 PMID:19088123 PMID:19454328 PMID:24401931 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 OMIM
ClinVar
PMID:2468908 PMID:14624391 PMID:14740320 PMID:15122722 PMID:17160895 PMID:18060436 PMID:18300272 PMID:19088123 PMID:19088124 PMID:20419355 PMID:23595507 PMID:24466005 PMID:25525273 PMID:25741868 PMID:26467025 PMID:27153162 PMID:27561926 PMID:27792856 PMID:28492532 PMID:28655553 PMID:32860008 NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr14:86,860,607...86,868,605
Ensembl chr14:86,860,608...86,868,598
JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 3 OMIM
ClinVar
PMID:15543491 PMID:18035376 PMID:18060436 PMID:20623299 PMID:23485406 PMID:23595507 PMID:23801932 PMID:25354366 PMID:25741868 PMID:26896283 PMID:28492532 PMID:30161288 NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 3 ClinVar PMID:18060436 PMID:20623299 PMID:28492532 NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
JBrowse link
cervical squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bax BCL2 associated X, apoptosis regulator ISO protein:increased expression:uterine cervix RGD PMID:17694953 RGD:1643352 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 disease_progression ISO DNA, protein:amplification, increased expression:uterine cervix, nucleus RGD PMID:12208731 RGD:1643529 NCBI chr 8:6,014,014...6,036,668
Ensembl chr 8:6,013,207...6,034,142
JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 severity ISO mRNA, protein:increased expression:uterine cervix, nucleus (human) RGD PMID:24708616 RGD:11252104 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr19:10,674,189...10,681,145
Ensembl chr19:10,674,189...10,681,145
JBrowse link
G Ccr4 C-C motif chemokine receptor 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 8:122,530,152...122,535,959
Ensembl chr 8:122,530,624...122,532,070
JBrowse link
G Cd82 Cd82 molecule ISO protein:decreased expression:uterine cervix RGD PMID:15642213 RGD:2289399 NCBI chr 3:82,324,344...82,368,846
Ensembl chr 3:82,324,354...82,368,357
JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr18:56,414,493...56,458,300
Ensembl chr18:56,414,488...56,458,300
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO cervical squamous cell carcinoma RGD PMID:17306351 RGD:2289084 NCBI chr 3:118,315,859...118,368,464
Ensembl chr 3:118,317,761...118,366,872
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 no_association ISO DNA:missense mutation:cds: p.S249G (human) RGD PMID:11605053 RGD:38500202 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit disease_progression ISO protein:increased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO protein:decreased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr 1:220,826,560...220,835,066
Ensembl chr 1:220,826,560...220,835,066
JBrowse link
G Foxp3 forkhead box P3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr  X:15,753,175...15,768,648
Ensembl chr  X:15,753,175...15,768,522
JBrowse link
G Mir21 microRNA 21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Pdpn podoplanin disease_progression ISO RGD PMID:16528371 RGD:2292237 NCBI chr 5:161,947,137...161,981,441
Ensembl chr 5:161,947,137...161,981,441
JBrowse link
G Smad3 SMAD family member 3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO protein:decreased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
JBrowse link
G Tmbim6 transmembrane BAX inhibitor motif containing 6 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15337562 RGD:2291959 NCBI chr 7:141,039,433...141,070,269
Ensembl chr 7:141,034,982...141,069,989
JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474
JBrowse link
G Tnfsf4 TNF superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr13:79,269,973...79,293,775
Ensembl chr13:79,269,973...79,293,778
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO RGD PMID:17969407 RGD:2298526 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:16803522 RGD:2293719 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
childhood pilocytic astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapk1 mitogen activated protein kinase 1 ISO protein:increased expression:brain: RGD PMID:21466243 RGD:13702864 NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
JBrowse link
chondroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3f3b H3.3 histone B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr10:104,573,666...104,575,890
Ensembl chr10:104,573,664...104,575,890
JBrowse link
chondrodysplasia Blomstrand type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by OMIM:215045
ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type
ClinVar
OMIM
PMID:3975110 PMID:9268097 PMID:9649554 PMID:10523019 PMID:17164305 PMID:18559376 PMID:25741868 PMID:28492532 NCBI chr 8:118,984,531...119,012,803
Ensembl chr 8:118,988,053...119,012,671
JBrowse link
chondroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 PMID:25895133 NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 PMID:25895133 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO RGD PMID:26091072 RGD:12910968 NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X (human) RGD PMID:20577567 RGD:11069623 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Smo smoothened, frizzled class receptor treatment ISO RGD PMID:26091072 RGD:12910968 NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
JBrowse link
choroid plexus papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Papilloma of choroid plexus
ClinVar Annotator: match by OMIM:260500
OMIM
ClinVar
PMID:1565143 PMID:1565144 PMID:1683921 PMID:7732013 PMID:7887414 PMID:8164043 PMID:8423216 PMID:8825920 PMID:9047394 PMID:9242456 PMID:9569050 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11101847 PMID:11139324 PMID:11479205 PMID:11782540 PMID:12007217 PMID:12085209 PMID:12619118 PMID:12672316 PMID:12826609 PMID:15004724 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15951970 PMID:15977174 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:17540308 PMID:17606709 PMID:17636407 PMID:18391940 PMID:18511570 PMID:19127115 PMID:19556618 PMID:19881536 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20689556 PMID:20693561 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21484931 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22698404 PMID:22811390 PMID:22899716 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23263379 PMID:23538418 PMID:23792586 PMID:24033266 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24641375 PMID:24651012 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25584008 PMID:25741868 PMID:25787918 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26822237 PMID:26845104 PMID:27153395 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27516001 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28492532 PMID:29478780 PMID:29489754 PMID:30076369 PMID:30224644 PMID:30327374 PMID:30816478 PMID:31775759 PMID:32000721 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
chromosome 10q23 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1a bone morphogenetic protein receptor type 1A ISS OMIM:612242 MouseDO NCBI chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
JBrowse link
CLAPO Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: LOPEZ-GUTIERREZ SYNDROME
ClinVar Annotator: match by term: Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth
ClinVar
OMIM
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 PMID:16906227 PMID:16930767 PMID:17376864 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729222 PMID:22729224 PMID:23066039 PMID:23100325 PMID:24033266 PMID:24559322 PMID:25157968 PMID:25741868 PMID:26619011 PMID:26851524 PMID:27631024 PMID:28492532 PMID:29446767 PMID:31775759 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
CLOVES syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: CLOVE SYNDROME
ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES
ClinVar Annotator: match by term: CLOVES SYNDROME
DNA: missense mutations: exon :p.H1047R, p.H1047L
OMIM
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23888070 PMID:24033266 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:26851524 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:31775759, PMID:22729222 RGD:13207409 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
colon adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chka choline kinase alpha ISO protein:increased expression:colonic mucosa (human) RGD PMID:10363580 RGD:10401945 NCBI chr 1:219,076,618...219,126,221
Ensembl chr 1:219,077,771...219,126,220
JBrowse link
G Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 ISO RGD PMID:26194191 RGD:11086893 NCBI chr10:83,774,178...83,823,323
Ensembl chr10:83,780,203...83,822,996
JBrowse link
G Rac1 Rac family small GTPase 1 ISO RGD PMID:12865273 RGD:13432048 NCBI chr12:13,090,316...13,111,841
Ensembl chr12:13,090,172...13,111,873
JBrowse link
colorectal adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Colorectal adenoma ClinVar PMID:2472832 PMID:10811618 PMID:11257105 PMID:11904335 PMID:16454848 PMID:18199528 PMID:18844223 PMID:20233475 PMID:21859464 PMID:22703879 PMID:22722839 PMID:22995991 PMID:23085758 PMID:23292937 PMID:23970361 PMID:24033266 PMID:24055113 PMID:24728327 PMID:24861525 PMID:25178641 PMID:25203624 PMID:25318351 PMID:25479140 PMID:25559809 PMID:25637381 PMID:25741868 PMID:25778705 PMID:25980754 PMID:26332594 PMID:26416840 PMID:26467025 PMID:26580448 PMID:27153395 PMID:27535533 PMID:27600092 PMID:28301460 PMID:28492532 PMID:28503720 PMID:28873162 PMID:29212164 PMID:30256826 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Birc7 baculoviral IAP repeat-containing 7 ISO RGD PMID:21122381 RGD:13217408 NCBI chr 3:176,438,335...176,443,864
Ensembl chr 3:176,439,199...176,443,195
JBrowse link
G F5 coagulation factor V ISO protein:increased expression:serum RGD PMID:30971492 RGD:40907058 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:8264230 RGD:13210753 NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion:cds (human) RGD PMID:20375710 RGD:7495820 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO DNA:SNP: :p.A114V (human) RGD PMID:20375710 RGD:7495820 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:8264230 RGD:13210753 NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:21122381, PMID:23082052 RGD:13217408, RGD:13217413 NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Mir224 microRNA 224 ISO mRNA:increased expression:colorectal mucosa: RGD PMID:25919696 RGD:14398749 NCBI chr  X:152,223,754...152,223,835
Ensembl chr  X:152,223,754...152,223,835
JBrowse link
G Odc1 ornithine decarboxylase 1 ISO ClinVar Annotator: match by term: Colonic adenoma recurrence, reduced risk of ClinVar PMID:12810952 NCBI chr 6:42,852,529...42,859,142
Ensembl chr 6:42,852,683...42,859,927
JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO RGD PMID:21122381 RGD:13217408 NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
JBrowse link
G Smad4 SMAD family member 4 ISO mRNA:increased expression:mucosa RGD PMID:11480790 RGD:21066339 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum, colorectal mucosa, epithelial cell RGD PMID:23082052 RGD:13217413 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
conjunctival squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam3a ADAM metallopeptidase domain 3A ISO DNA, mRNA:amplification, increase expression RGD PMID:25491297 RGD:13831354 NCBI chr16:72,086,878...72,136,685
Ensembl chr16:72,086,878...72,136,687
JBrowse link
cystadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO protein:increased expression:pancreas RGD PMID:19077459 RGD:2325696 NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO protein:increased expression:pancreas RGD PMID:19077459 RGD:2325696 NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
JBrowse link
dermoid cyst of ovary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo3 forkhead box O3 ISS OMIM:166950 MouseDO NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
JBrowse link
epidermodysplasia verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc6 transmembrane channel like 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD
ClinVar
PMID:15042430 PMID:17139267 PMID:25741868 PMID:28492532 NCBI chr10:106,766,857...106,783,004 JBrowse link
G Tmc8 transmembrane channel-like 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532 NCBI chr10:106,784,819...106,795,307
Ensembl chr10:106,785,077...106,795,299
JBrowse link
Epidermodysplasia Verruciformis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc6 transmembrane channel like 6 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar
OMIM
PMID:12426567 PMID:15042430 PMID:17139267 PMID:25741868 PMID:28492532 NCBI chr10:106,766,857...106,783,004 JBrowse link
G Tmc8 transmembrane channel-like 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:106,784,819...106,795,307
Ensembl chr10:106,785,077...106,795,299
JBrowse link
Epidermodysplasia Verruciformis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc8 transmembrane channel-like 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS 2
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
ClinVar
OMIM
PMID:10084299 PMID:12426567 PMID:28646613 NCBI chr10:106,784,819...106,795,307
Ensembl chr10:106,785,077...106,795,299
JBrowse link
Epidermodysplasia Verruciformis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cib1 calcium and integrin binding 1 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 ClinVar
OMIM
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28646613 PMID:30068544 NCBI chr 1:142,014,962...142,020,461
Ensembl chr 1:142,014,958...142,020,525
JBrowse link
Epidermodysplasia Verruciformis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoh ras homolog family member H susceptibility ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 ClinVar
OMIM
PMID:22850876 NCBI chr14:43,961,756...43,992,587
Ensembl chr14:43,961,756...43,992,587
JBrowse link
Epidermodysplasia Verruciformis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il7 interleukin 7 susceptibility ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 OMIM
ClinVar
PMID:25981006 NCBI chr 2:96,427,884...96,474,979
Ensembl chr 2:96,439,286...96,474,977
JBrowse link
Epithelioid Leiomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a5 collagen type IV alpha 5 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chr  X:112,405,647...112,768,337
Ensembl chr  X:112,405,647...112,473,822
JBrowse link
esophagus squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21206495 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:121,705,897...121,725,736
Ensembl chr 9:121,706,979...121,725,716
JBrowse link
G Ajuba ajuba LIM protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr15:33,208,210...33,218,456
Ensembl chr15:33,208,216...33,218,456
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:16639733 PMID:22960999 NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
JBrowse link
G Anxa1 annexin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr10:56,205,622...56,211,879
Ensembl chr10:56,205,625...56,211,891
JBrowse link
G Azin1 antizyme inhibitor 1 ISO RGD PMID:24302582 RGD:14700707 NCBI chr 7:77,345,646...77,372,398
Ensembl chr 7:77,345,646...77,372,398
JBrowse link
G B2m beta-2 microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Blvrb biliverdin reductase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:84,256,063...84,273,726
Ensembl chr 1:84,256,159...84,274,075
JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO protein:increased expression:esophagus RGD PMID:22364398 RGD:7242413 NCBI chr17:26,955,142...27,112,820
Ensembl chr17:26,955,142...27,112,820
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO DNA:nonsense mutation: :p.K3326X (human) RGD PMID:21279724 RGD:11344913 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Bst2 bone marrow stromal cell antigen 2 disease_progression ISO RGD PMID:26832883 RGD:14398496 NCBI chr16:19,938,781...19,942,353
Ensembl chr16:19,938,784...19,942,353
JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr 3:110,367,949...110,420,471
Ensembl chr 3:110,367,939...110,420,458
JBrowse link
G Calr calreticulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr19:25,956,771...25,961,666
Ensembl chr19:25,956,771...25,961,666
JBrowse link
G Capza1 capping actin protein of muscle Z-line subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:207,305,748...207,350,812
Ensembl chr 2:207,305,752...207,350,812
JBrowse link
G Car1 carbonic anhydrase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:88,185,204...88,227,486
Ensembl chr 2:88,217,188...88,227,479
JBrowse link
G Car2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:88,097,740...88,112,868
Ensembl chr 2:88,097,720...88,113,029
JBrowse link
G Cbx8 chromobox 8 severity ISO mRNA:increased expression:esophagus: RGD PMID:25197352 RGD:9587436 NCBI chr10:108,148,073...108,150,511
Ensembl chr10:108,148,073...108,150,511
JBrowse link
G Cchcr1 coiled-coil alpha-helical rod protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr20:3,730,968...3,745,721
Ensembl chr20:3,730,955...3,740,009
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO CTD Direct Evidence: therapeutic CTD PMID:15375580 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO DNA:SNPs: :rs615552, rs573687 (human) RGD PMID:23361049 RGD:7248756 NCBI chr 5:107,834,353...107,857,428
Ensembl chr 5:107,845,951...107,858,104
JBrowse link
G Cfl1 cofilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:220,869,805...220,873,337
Ensembl chr 1:220,869,805...220,873,337
JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr20:5,040,314...5,049,166
Ensembl chr20:5,040,337...5,049,166
JBrowse link
G Crabp1 cellular retinoic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17438526 NCBI chr 8:59,344,097...59,352,135
Ensembl chr 8:59,344,083...59,352,132
JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Cstb cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Esophageal Squamous Cell Carcinoma ClinVar PMID:25157968 PMID:26619011 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:11860825 RGD:14700943 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 IEP protein:increased expression:esophagus (rat) RGD PMID:18618592 RGD:7829715 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr 4:116,261,796...116,278,615
Ensembl chr 4:116,261,796...116,278,615
JBrowse link
G Dcc DCC netrin 1 receptor ISO DNA:deletions:multiple (human) RGD PMID:8187090 RGD:734879 NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566
JBrowse link
G Dido1 death inducer-obliterator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr 3:176,162,886...176,216,868
Ensembl chr 3:176,162,886...176,197,753
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta disease_progression ISO protein:increased expression:nucleus: RGD PMID:22213175 RGD:9589085 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G Egfr epidermal growth factor receptor severity ISO protein:increased expression:esophagus (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Esophageal Squamous Cell Carcinoma
CTD
ClinVar
PMID:21947696 PMID:23485129 PMID:25157968, PMID:10385363 RGD:5131486 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 disease_progression ISO protein:increased expression:esophagus:
protein:increased expression:esophagus mucosa:
RGD PMID:24649311, PMID:24805087 RGD:9589143, RGD:9590071 NCBI chr 3:1,966,974...2,123,858
Ensembl chr 3:1,960,957...2,123,820
JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 disease_progression ISO protein:increased expression:esophagus mucosa: RGD PMID:24805087 RGD:9590071 NCBI chr20:4,576,033...4,592,980
Ensembl chr20:4,576,057...4,592,980
JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17965222 PMID:25151357 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO RGD PMID:23263828 RGD:11252162 NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Fanca FA complementation group A ISO DNA:missense mutation: :p.S858R (human) RGD PMID:21279724 RGD:11344913 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr10:109,987,735...110,005,901
Ensembl chr10:109,987,735...110,005,901
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
JBrowse link
G Fat2 FAT atypical cadherin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr10:40,583,025...40,682,598
Ensembl chr10:40,584,403...40,657,861
JBrowse link
G Fat3 FAT atypical cadherin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 8:14,417,039...15,011,596
Ensembl chr 8:14,417,584...14,880,644
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
JBrowse link
G Fkbp1a FKBP prolyl isomerase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 3:147,042,944...147,062,725
Ensembl chr 3:147,042,944...147,062,724
JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:70,299,177...70,325,864
Ensembl chr17:70,299,183...70,325,855
JBrowse link
G Glo1 glyoxalase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr20:9,273,589...9,291,608
Ensembl chr20:9,273,594...9,291,610
JBrowse link
G Gstm1 glutathione S-transferase mu 1 no_association ISO RGD PMID:11860825, PMID:17916905, PMID:25432134 RGD:14700943, RGD:14700982, RGD:14700948 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gsto1 glutathione S-transferase omega 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:267,607,437...267,617,387
Ensembl chr 1:267,607,418...267,617,387
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO DNA:polymorphism: :p.I105V (human) RGD PMID:17916905 RGD:14700982 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17173682, PMID:25432134, PMID:17916905 RGD:14700948, RGD:14700982 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17201171 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Hmgn5 high mobility group nucleosome binding domain 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28914995 NCBI chr  X:80,134,557...80,142,902
Ensembl chr  X:80,134,557...80,142,902
JBrowse link
G Hoxb7 homeo box B7 severity ISO protein:increased expression:esophageal mucosa (human) RGD PMID:26076456 RGD:10402177 NCBI chr10:84,135,224...84,138,642
Ensembl chr10:84,135,116...84,138,637
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
JBrowse link
G Kat2b lysine acetyltransferase 2B ISO mRNA:decreased expression:esophagus (human) RGD PMID:19525977 RGD:9590307 NCBI chr 9:4,440,982...4,492,949 JBrowse link
G Kdm4c lysine demethylase 4C severity
susceptibility
ISO protein:increased expression:esophageal epithelium, nucleus (human)
DNA:snp:intron:IVS8-3292G>A (rs1340513) (human)
RGD PMID:24224128, PMID:15805246 RGD:9587746, RGD:9587752 NCBI chr 5:90,800,139...91,012,662
Ensembl chr 5:90,800,082...91,012,659
JBrowse link
G Kdm5b lysine demethylase 5B severity ISO protein:increased expression:esophageal mucosa, cytoplasm (human) RGD PMID:22534467 RGD:9587776 NCBI chr13:51,384,371...51,455,392
Ensembl chr13:51,384,389...51,455,357
JBrowse link
G Kdm6a lysine demethylase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr  X:4,805,493...4,945,788
Ensembl chr  X:4,806,277...4,945,944
JBrowse link
G Kmt2c lysine methyltransferase 2C ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:25151357, PMID:25151357 RGD:9588233 NCBI chr 4:82,506...109,986
NCBI chr 4:6,083,650...6,294,413
Ensembl chr 4:6,083,736...6,292,516
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:25151357, PMID:25151357 RGD:9588233 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G Krt13 keratin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:88,032,130...88,036,040
Ensembl chr10:88,032,130...88,036,040
JBrowse link
G Krt14 keratin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
JBrowse link
G Krt16 keratin 16 IEP RGD PMID:8950218 RGD:633113 NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:88,158,993...88,163,712
Ensembl chr10:88,118,001...88,163,723
JBrowse link
G Krt19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:88,055,843...88,060,560
Ensembl chr10:88,055,841...88,060,561
JBrowse link
G LOC100361016 oocyte specific homeobox 5-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr  X:93,064,417...93,067,181
Ensembl chr  X:93,064,686...93,065,675
JBrowse link
G Loxl2 lysyl oxidase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24716982 NCBI chr15:51,276,022...51,365,238
Ensembl chr15:51,303,909...51,365,234
JBrowse link
G Lta lymphotoxin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Lzts1 leucine zipper tumor suppressor 1 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar PMID:10097140 NCBI chr16:22,250,452...22,306,667
Ensembl chr16:22,250,470...22,306,662
JBrowse link
G Mad2l1 mitotic arrest deficient 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr 4:97,530,993...97,543,179
Ensembl chr 4:97,531,083...97,537,086
JBrowse link
G Mbd4 methyl-CpG binding domain 4 DNA glycosylase susceptibility ISO DNA:snp:cds:p.E346K (rs140693) (human)
DNA:snp:intron:IVS5-140A>G (rs3138355) (human)
RGD PMID:15205355, PMID:25162968 RGD:9588976, RGD:9588980 NCBI chr 4:147,744,673...147,756,462
Ensembl chr 4:147,746,186...147,756,294
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25520135 NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
JBrowse link
G Mir217 microRNA 217 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25538231 NCBI chr14:113,119,529...113,119,633
Ensembl chr14:113,119,529...113,119,633
JBrowse link
G Mir423 microRNA 423 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24205249 NCBI chr10:63,098,366...63,098,444
Ensembl chr10:63,098,360...63,098,453
JBrowse link
G Mt1 metallothionein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Notch2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
JBrowse link
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
G Pfn1 profilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:57,273,003...57,275,708
Ensembl chr10:57,273,005...57,275,708
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729852 PMID:20729853 NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
JBrowse link
G Prdx1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 5:135,536,413...135,551,986
Ensembl chr 5:135,536,413...135,551,990
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 disease_progression ISO RGD PMID:19492245 RGD:6482249 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G Psme1 proteasome activator subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr15:34,256,071...34,258,947
Ensembl chr15:34,256,071...34,258,947
JBrowse link
G Psme2 proteasome activator subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr15:34,265,552...34,269,851
Ensembl chr15:34,265,557...34,269,851
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15756444 PMID:16543248 PMID:18197933 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Rnf6 ring finger protein 6 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar PMID:12154016 NCBI chr12:10,574,168...10,583,196
Ensembl chr12:10,574,168...10,583,208
JBrowse link
G Sall4 spalt-like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
JBrowse link
G Serpinb3 serpin family B member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr13:27,186,701...27,193,211
Ensembl chr13:27,187,130...27,192,592
JBrowse link
G Sfn stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 5:151,823,422...151,824,937
Ensembl chr 5:151,823,887...151,824,633
JBrowse link
G Slc39a6 solute carrier family 39 member 6 ISO CTD Direct Evidence: therapeutic CTD PMID:23644492 NCBI chr18:16,523,450...16,543,992
Ensembl chr18:16,522,982...16,543,992
JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729853 NCBI chr 3:147,503,266...147,517,935
Ensembl chr 3:147,511,406...147,516,455
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18167182 PMID:21517111 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19801978 NCBI chr 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
JBrowse link
G Sult1a1 sulfotransferase family 1A member 1 ISO DNA:SNP:exon:p.R213H, 638G>A (human) RGD PMID:12455060 RGD:1581448 NCBI chr 1:198,100,586...198,104,106
Ensembl chr 1:198,100,586...198,104,109
JBrowse link
G Tagln transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 8:50,222,895...50,228,369
Ensembl chr 8:50,222,896...50,231,357
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
JBrowse link
G Tnfaip8 TNF alpha induced protein 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21969086 NCBI chr18:44,664,310...44,779,914
Ensembl chr18:44,716,226...44,779,914
JBrowse link
G Tnxb tenascin XB ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198
G Tp53 tumor protein p53 ISO DNA:misssense mutation: :p.R72P (rs1042522) (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16543248 PMID:25151357, PMID:28789369 RGD:14995932 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
JBrowse link
G Tpm1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
JBrowse link
G Tpm2 tropomyosin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
JBrowse link
G Txndc17 thioredoxin domain containing 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:58,776,792...58,779,764
Ensembl chr10:58,776,792...58,779,764
JBrowse link
G Tymp thymidine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11641616 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
G Uty ubiquitously transcribed tetratricopeptide repeat containing, Y-linked ISO DNA:mutations:multiple (human) RGD PMID:25151357 RGD:9588233 NCBI chr  Y:1,065,274...1,206,127
Ensembl chr  Y:989,240...1,206,096
JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 disease_progression ISO RGD PMID:24626331 RGD:21081532 NCBI chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO esophageal squamous cell carcinoma, OMIM:133239
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic
CTD
ClinVar
PMID:11956080 PMID:25526675, PMID:11956080 RGD:1599874 NCBI chr19:46,761,353...47,695,247 JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16639733 NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
JBrowse link
G Zcchc12 zinc finger CCHC-type containing 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr  X:122,808,581...122,811,790
Ensembl chr  X:122,808,605...122,811,789
JBrowse link
familial adenomatous polyposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17942926 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO
IMP
ClinVar Annotator: match by term: Familial multiple polyposis syndrome
ClinVar Annotator: match by term: APC-Associated Polyposis Disorders
ClinVar Annotator: match by term: MYH-associated polyposis
ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL
ClinVar Annotator: match by term: Familial adenomatous polyposis
ClinVar Annotator: match by term: Adenomatous polyposis coli
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Adenomatous Polyposis
ClinVar Annotator: match by OMIM:175100
DNA:point mutation:CDS:p.K1137X (3409A>T) (rat)
ClinVar
CTD
PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1528264 PMID:1651563 PMID:1944466 PMID:2000873 PMID:2281069 PMID:2472832 PMID:2478327 PMID:7562975 PMID:7833936 PMID:8071957 PMID:8103406 PMID:8111416 PMID:8125478 PMID:8162022 PMID:8187091 PMID:8252630 PMID:8381579 PMID:8381580 PMID:8381581 PMID:8395941 PMID:8625067 PMID:8730280 PMID:8834176 PMID:8931709 PMID:8940262 PMID:8990002 PMID:9101302 PMID:9288102 PMID:9342373 PMID:9375853 PMID:9487968 PMID:9585599 PMID:9585611 PMID:9664575 PMID:9724771 PMID:9731522 PMID:9731533 PMID:9751605 PMID:9824584 PMID:9831355 PMID:9869602 PMID:9869603 PMID:9869620 PMID:9916927 PMID:9950360 PMID:9973276 PMID:10083733 PMID:10094547 PMID:10439961 PMID:10470088 PMID:10598803 PMID:10612827 PMID:10646887 PMID:10679643 PMID:10713886 PMID:10737725 PMID:10737795 PMID:10768871 PMID:10938175 PMID:10982189 PMID:11001924 PMID:11040535 PMID:11159880 PMID:11207040 PMID:11247895 PMID:11247896 PMID:11257105 PMID:11317365 PMID:11354631 PMID:11420398 PMID:11588890 PMID:11606402 PMID:11741105 PMID:11748858 PMID:11766074 PMID:11818965 PMID:11904335 PMID:11933206 PMID:11960572 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12093899 PMID:12172928 PMID:12173026 PMID:12173321 PMID:12357334 PMID:12374230 PMID:12394442 PMID:12408524 PMID:12486240 PMID:12494469 PMID:12533824 PMID:12581900 PMID:12901799 PMID:14523376 PMID:14574009 PMID:14578138 PMID:14616385 PMID:14624392 PMID:14633595 PMID:14695993 PMID:14729851 PMID:14961559 PMID:15024739 PMID:15108286 PMID:15108288 PMID:15122587 PMID:15133491 PMID:15300576 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15689459 PMID:15712637 PMID:15771908 PMID:15824157 PMID:15833136 PMID:15857185 PMID:15929773 PMID:15951963 PMID:16088911 PMID:16110024 PMID:16134147 PMID:16140997 PMID:16199547 PMID:16228836 PMID:16292097 PMID:16317745 PMID:16454848 PMID:16461775 PMID:16569251 PMID:16650078 PMID:16843107 PMID:16875934 PMID:17064931 PMID:17119068 PMID:17135589 PMID:17293347 PMID:17411426 PMID:17489848 PMID:17568392 PMID:17604324 PMID:17785554 PMID:17854661 PMID:17920230 PMID:17942926 PMID:17963004 PMID:18063416 PMID:18199528 PMID:18343606 PMID:18433509 PMID:18612690 PMID:18632633 PMID:18704758 PMID:18794146 PMID:18844223 PMID:18948947 PMID:18992635 PMID:19029688 PMID:19036155 PMID:19047896 PMID:19196998 PMID:19336753 PMID:19444466 PMID:19474113 PMID:19531215 PMID:19701947 PMID:19725996 PMID:19768578 PMID:19793053 PMID:19888426 PMID:20223039 PMID:20233475 PMID:20301519 PMID:20333795 PMID:20434453 PMID:20510605 PMID:20564245 PMID:20649969 PMID:20685668 PMID:20924072 PMID:20977806 PMID:21110124 PMID:21153778 PMID:21643010 PMID:21653199 PMID:21779980 PMID:21859464 PMID:21901162 PMID:21902576 PMID:21970370 PMID:21995669 PMID:21995949 PMID:22000517 PMID:22135120 PMID:22150579 PMID:22431159 PMID:22675565 PMID:22703879 PMID:22722839 PMID:22773231 PMID:22810696 PMID:22851115 PMID:22875147 PMID:22941256 PMID:22987206 PMID:22995991 PMID:23159591 PMID:23204322 PMID:23292937 PMID:23460355 PMID:23561487 PMID:23576677 PMID:23700467 PMID:23709753 PMID:23846443 PMID:23896379 PMID:23910461 PMID:23970361 PMID:24033266 PMID:24039736 PMID:24055113 PMID:24123366 PMID:24310308 PMID:24416237 PMID:24448499 PMID:24470207 PMID:24498620 PMID:24549056 PMID:24573554 PMID:24599579 PMID:24651453 PMID:24664542 PMID:24728327 PMID:24735542 PMID:24790607 PMID:24841357 PMID:24861525 PMID:25142776 PMID:25157968 PMID:25159915 PMID:25178641 PMID:25186627 PMID:25200834 PMID:25203624 PMID:25280562 PMID:25326637 PMID:25479140 PMID:25490678 PMID:25525159 PMID:25559809 PMID:25590978 PMID:25604157 PMID:25637381 PMID:25710373 PMID:25722345 PMID:25741868 PMID:25801821 PMID:25832318 PMID:25925381 PMID:25941542 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26138249 PMID:26161710 PMID:26173098 PMID:26187149 PMID:26252958 PMID:26300997 PMID:26314409 PMID:26332594 PMID:26373296 PMID:26394139 PMID:26421687 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26493165 PMID:26508446 PMID:26517685 PMID:26580448 PMID:26613750 PMID:26625971 PMID:26681312 PMID:26692440 PMID:26822149 PMID:26837502 PMID:26840078 PMID:26845104 PMID:26900293 PMID:26917275 PMID:26976419 PMID:27000756 PMID:27028212 PMID:27081525 PMID:27121310 PMID:27124905 PMID:27146957 PMID:27150160 PMID:27153395 PMID:27156442 PMID:27354939 PMID:27435373 PMID:27443514 PMID:27535533 PMID:27574554 PMID:27600092 PMID:27623068 PMID:27696107 PMID:27878467 PMID:27930734 PMID:27978560 PMID:28050010 PMID:28125075 PMID:28127413 PMID:28135136 PMID:28135145 PMID:28202063 PMID:28283864 PMID:28349240 PMID:28414304 PMID:28492532 PMID:28502729 PMID:28503720 PMID:28533537 PMID:28576136 PMID:28608266 PMID:28749474 PMID:28828701 PMID:28873162 PMID:29029407 PMID:29122597 PMID:29367705 PMID:29368261 PMID:29386312 PMID:29406563 PMID:29478780 PMID:29506128 PMID:29562902 PMID:29641532 PMID:29684080 PMID:29901124 PMID:29915797 PMID:29945567 PMID:29961768 PMID:29987844 PMID:30152102 PMID:30256826 PMID:30267214 PMID:30374176 PMID:30426508 PMID:30487145 PMID:30613976 PMID:30680046 PMID:30897307 PMID:31113927 PMID:31428572, PMID:18432252, PMID:17360473, PMID:15118671 RGD:2293188, RGD:1601201, RGD:1331525 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G ApcPirc APC, WNT signaling pathway regulator; polyposis in the rat colon IMP RGD PMID:17360473 RGD:1601201
G Cd44 CD44 molecule (Indian blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:28255344 NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
JBrowse link
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16885356 NCBI chr 1:256,382,861...256,386,729
Ensembl chr 1:256,382,791...256,386,729
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25200834 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr 5:135,882,946...135,949,276
Ensembl chr 5:135,882,967...135,949,818
JBrowse link
G F5 coagulation factor V ISO CTD Direct Evidence: marker/mechanism CTD PMID:25200834 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Fmo3 flavin containing dimethylaniline monoxygenase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17559352 NCBI chr13:80,837,418...80,856,214
Ensembl chr13:80,837,420...80,862,963
JBrowse link
G Grem1 gremlin 1, DAN family BMP antagonist ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561515 NCBI chr 3:105,203,309...105,214,989
Ensembl chr 3:105,203,309...105,214,989
JBrowse link
G Hdac2 histone deacetylase 2 treatment ISO RGD PMID:24218540 RGD:9590246 NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
JBrowse link
G Hectd3 HECT domain E3 ubiquitin protein ligase 3 ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr 5:135,860,578...135,870,535
Ensembl chr 5:135,860,675...135,868,495
JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr 5:135,675,826...135,677,432
Ensembl chr 5:135,675,832...135,677,432
JBrowse link
G Ihh Indian hedgehog signaling molecule ISO RGD PMID:25307863 RGD:11528847 NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
JBrowse link
G Itih4 inter-alpha-trypsin inhibitor heavy chain 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25200834 NCBI chr16:6,970,367...6,985,538
Ensembl chr16:6,970,342...6,985,579
JBrowse link
G Lrg1 leucine-rich alpha-2-glycoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25200834 NCBI chr 9:10,952,424...10,954,664
Ensembl chr 9:10,952,374...10,954,681
JBrowse link
G Mcc MCC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:8071957 NCBI chr18:35,683,185...35,817,117
NCBI chr 1:12,006,663...12,128,849
Ensembl chr 1:12,006,660...12,128,845
Ensembl chr18:12,006,660...12,128,845
JBrowse link
G Mir155 microRNA 155 ISO miRNA:decreased expression:colon RGD PMID:30072583 RGD:21409749 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Msh3 mutS homolog 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:21,790,048...21,931,791
Ensembl chr 2:21,790,044...21,931,720
JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: MYH-associated polyposis
ClinVar Annotator: match by term: Adenomatous polyposis coli
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2084865 PMID:3561487 PMID:9846876 PMID:10612827 PMID:11092888 PMID:11295288 PMID:11433026 PMID:11801590 PMID:11818965 PMID:11864576 PMID:12056405 PMID:12393807 PMID:12606733 PMID:12707038 PMID:12853198 PMID:14579148 PMID:14618256 PMID:14633673 PMID:14991577 PMID:14999774 PMID:15034862 PMID:15180946 PMID:15188161 PMID:15236166 PMID:15326180 PMID:15366000 PMID:15465463 PMID:15523092 PMID:15635083 PMID:15673720 PMID:15690400 PMID:15761860 PMID:15890374 PMID:15931596 PMID:15943555 PMID:15987719 PMID:16042573 PMID:16134146 PMID:16134147 PMID:16140997 PMID:16207212 PMID:16234049 PMID:16287072 PMID:16338133 PMID:16408224 PMID:16455870 PMID:16492921 PMID:16557584 PMID:16616356 PMID:16645203 PMID:16774938 PMID:16890597 PMID:16929514 PMID:16941501 PMID:16996809 PMID:17031395 PMID:17081686 PMID:17122612 PMID:17161978 PMID:17207658 PMID:17219200 PMID:17219385 PMID:17252231 PMID:17273161 PMID:17368238 PMID:17369389 PMID:17489848 PMID:17524638 PMID:17581577 PMID:17674103 PMID:17703316 PMID:17874208 PMID:17931073 PMID:17949294 PMID:17956577 PMID:18091433 PMID:18172263 PMID:18271935 PMID:18294051 PMID:18301448 PMID:18414213 PMID:18422726 PMID:18433509 PMID:18495334 PMID:18506705 PMID:18515411 PMID:18534194 PMID:18564191 PMID:18776649 PMID:18787472 PMID:18811933 PMID:18992148 PMID:19032956 PMID:19245865 PMID:19279422 PMID:19300419 PMID:19338676 PMID:19394335 PMID:19414147 PMID:19443904 PMID:19479711 PMID:19506731 PMID:19527492 PMID:19531215 PMID:19725997 PMID:19732775 PMID:19793053 PMID:19806110 PMID:19836313 PMID:19841264 PMID:19902366 PMID:19953527 PMID:19998059 PMID:20063264 PMID:20110747 PMID:20191381 PMID:20223003 PMID:20418187 PMID:20571908 PMID:20618354 PMID:20628285 PMID:20663686 PMID:20687945 PMID:20725929 PMID:20816984 PMID:20848659 PMID:21061173 PMID:21063410 PMID:21078199 PMID:21153778 PMID:21167187 PMID:21171015 PMID:21178863 PMID:21195604 PMID:21235684 PMID:21287799 PMID:21443744 PMID:21520333 PMID:21777424 PMID:21815886 PMID:21952991 PMID:21962078 PMID:22158503 PMID:22252118 PMID:22266422 PMID:22297469 PMID:22402879 PMID:22473953 PMID:22538434 PMID:22641385 PMID:22703879 PMID:22722201 PMID:22744763 PMID:22773231 PMID:22865608 PMID:22922830 PMID:22926731 PMID:22976915 PMID:23007840 PMID:23035301 PMID:23108399 PMID:23322991 PMID:23361220 PMID:23383274 PMID:23460355 PMID:23507534 PMID:23561487 PMID:23605219 PMID:23621914 PMID:23625202 PMID:23729658 PMID:23805267 PMID:23820649 PMID:24033266 PMID:24039736 PMID:24082139 PMID:24278394 PMID:24377541 PMID:24444654 PMID:24470512 PMID:24556621 PMID:24569162 PMID:24691292 PMID:24728327 PMID:24733792 PMID:24763289 PMID:24799981 PMID:24834277 PMID:24953332 PMID:25151137 PMID:25186627 PMID:25197429 PMID:25307848 PMID:25318351 PMID:25326637 PMID:25368107 PMID:25503501 PMID:25525159 PMID:25559809 PMID:25569433 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25820570 PMID:25856671 PMID:25892863 PMID:25927356 PMID:25937855 PMID:25938944 PMID:25957691 PMID:25980754 PMID:26138249 PMID:26202870 PMID:26296696 PMID:26300997 PMID:26332594 PMID:26377631 PMID:26436112 PMID:26446593 PMID:26467025 PMID:26511139 PMID:26556299 PMID:26580448 PMID:26600934 PMID:26615199 PMID:26632267 PMID:26673696 PMID:26681312 PMID:26684191 PMID:26689913 PMID:26694661 PMID:26822237 PMID:26824983 PMID:26837502 PMID:26845104 PMID:26900293 PMID:26902849 PMID:26944241 PMID:26947005 PMID:26976419 PMID:27077130 PMID:27145315 PMID:27153395 PMID:27194394 PMID:27276934 PMID:27377421 PMID:27443514 PMID:27498913 PMID:27600092 PMID:27696107 PMID:27705013 PMID:27799157 PMID:27829682 PMID:27870730 PMID:27978560 PMID:28087410 PMID:28127763 PMID:28135048 PMID:28135145 PMID:28141798 PMID:28152038 PMID:28166811 PMID:28195393 PMID:28199314 PMID:28202063 PMID:28243543 PMID:28251689 PMID:28332257 PMID:28349240 PMID:28445943 PMID:28492532 PMID:28495237 PMID:28502729 PMID:28526081 PMID:28533537 PMID:28577310 PMID:28634180 PMID:28644590 PMID:28717660 PMID:28726808 PMID:28861346 PMID:28873161 PMID:28873162 PMID:28944238 PMID:28961279 PMID:29093764 PMID:29330641 PMID:29368341 PMID:29371908 PMID:29406563 PMID:29431110 PMID:29458332 PMID:29478780 PMID:29484706 PMID:29641532 PMID:29667044 PMID:29684080 PMID:29879026 PMID:29915346 PMID:29967336 PMID:30093976 PMID:30151275 PMID:30256826 PMID:30267214 PMID:30333958 PMID:30374176 PMID:30487145 PMID:30564557 PMID:30604180 PMID:30719162 PMID:30833417 PMID:30836094 PMID:30850667 PMID:30982232 PMID:31062380 PMID:31104418 PMID:31159747 PMID:31220976 PMID:31273614 PMID:31285513 PMID:31360874 PMID:31575519 PMID:31742824 PMID:31921681, PMID:11818965 RGD:1600191 NCBI chr 5:135,663,328...135,675,348
Ensembl chr 5:135,663,371...135,675,344
JBrowse link
G Nthl1 nth-like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938944 NCBI chr10:13,996,660...14,002,827
Ensembl chr10:13,996,645...14,002,910
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr 5:135,962,252...135,983,816
Ensembl chr 5:135,962,911...135,983,816
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17942926 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Scg5 secretogranin V ISO ClinVar Annotator: match by term: Hereditary Mixed Polyposis ClinVar PMID:25741868 NCBI chr 3:105,235,065...105,279,475
Ensembl chr 3:105,235,050...105,279,462
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12907644 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Toe1 target of EGR1, exonuclease ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:12056405 PMID:14618256 PMID:15180946 PMID:18271935 PMID:18776649 PMID:20725929 PMID:22473953 PMID:25186627 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:135,659,733...135,663,299
Ensembl chr 5:135,659,734...135,663,299
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643
JBrowse link
G Zswim5 zinc finger, SWIM-type containing 5 ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr 5:135,735,825...135,854,525
Ensembl chr 5:135,735,825...135,852,575
JBrowse link
familial adenomatous polyposis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar
OMIM
PMID:1316610 PMID:1317264 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1528264 PMID:1651174 PMID:1651563 PMID:1678319 PMID:1843350 PMID:1944466 PMID:2068568 PMID:2281069 PMID:2472832 PMID:2478327 PMID:7485167 PMID:7490101 PMID:7562975 PMID:7746201 PMID:7797123 PMID:7833149 PMID:7833931 PMID:7833936 PMID:7853377 PMID:7951218 PMID:7959691 PMID:8019566 PMID:8103406 PMID:8111410 PMID:8111416 PMID:8125478 PMID:8162022 PMID:8162051 PMID:8187091 PMID:8252630 PMID:8252631 PMID:8381579 PMID:8381580 PMID:8381581 PMID:8390900 PMID:8395941 PMID:8594558 PMID:8625067 PMID:8730280 PMID:8834176 PMID:8835324 PMID:8844222 PMID:8888441 PMID:8910893 PMID:8931709 PMID:8940262 PMID:8956059 PMID:8990002 PMID:9067764 PMID:9101302 PMID:9288102 PMID:9298819 PMID:9341879 PMID:9342373 PMID:9343467 PMID:9375853 PMID:9382065 PMID:9452101 PMID:9487968 PMID:9585599 PMID:9585611 PMID:9603437 PMID:9664575 PMID:9669663 PMID:9724771 PMID:9731522 PMID:9731533 PMID:9751605 PMID:9824584 PMID:9831355 PMID:9843214 PMID:9869602 PMID:9869603 PMID:9869620 PMID:9916927 PMID:9950360 PMID:9973276 PMID:10077047 PMID:10083733 PMID:10090483 PMID:10094547 PMID:10439961 PMID:10470088 PMID:10494086 PMID:10562580 PMID:10598803 PMID:10612827 PMID:10646887 PMID:10666372 PMID:10679643 PMID:10713886 PMID:10737725 PMID:10737795 PMID:10768871 PMID:10811618 PMID:10923044 PMID:10938175 PMID:10982189 PMID:11001924 PMID:11159880 PMID:11207040 PMID:11247895 PMID:11247896 PMID:11257105 PMID:11317365 PMID:11354631 PMID:11606402 PMID:11707392 PMID:11741105 PMID:11748858 PMID:11754114 PMID:11768389 PMID:11818965 PMID:11839722 PMID:11852337 PMID:11896079 PMID:11904335 PMID:11933206 PMID:11960572 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12093899 PMID:12136240 PMID:12172928 PMID:12173026 PMID:12173321 PMID:12357334 PMID:12374230 PMID:12486240 PMID:12503191 PMID:12533824 PMID:12581900 PMID:12702169 PMID:12901799 PMID:14514668 PMID:14522379 PMID:14523376 PMID:14574009 PMID:14578138 PMID:14616385 PMID:14624392 PMID:14633595 PMID:14695993 PMID:14729851 PMID:14961559 PMID:14966376 PMID:14999774 PMID:15024739 PMID:15095859 PMID:15108286 PMID:15108288 PMID:15122587 PMID:15131404 PMID:15133491 PMID:15300576 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15712637 PMID:15771908 PMID:15824157 PMID:15833136 PMID:15857185 PMID:15929773 PMID:15951963 PMID:15952110 PMID:16088911 PMID:16111973 PMID:16134147 PMID:16140997 PMID:16199547 PMID:16228836 PMID:16292097 PMID:16317745 PMID:16454848 PMID:16461775 PMID:16569251 PMID:16616356 PMID:16650078 PMID:16680592 PMID:16736293 PMID:16843107 PMID:16875934 PMID:16883523 PMID:17064931 PMID:17119068 PMID:17135589 PMID:17230660 PMID:17293347 PMID:17411426 PMID:17426470 PMID:17486639 PMID:17489848 PMID:17568392 PMID:17604324 PMID:17785554 PMID:17854661 PMID:17920230 PMID:17963004 PMID:18063416 PMID:18166348 PMID:18199528 PMID:18224684 PMID:18343606 PMID:18369740 PMID:18387968 PMID:18406876 PMID:18433509 PMID:18487285 PMID:18612690 PMID:18629394 PMID:18794146 PMID:18844223 PMID:18948947 PMID:18992635 PMID:19029688 PMID:19036155 PMID:19047896 PMID:19111562 PMID:19196998 PMID:19279422 PMID:19331226 PMID:19336753 PMID:19444466 PMID:19474113 PMID:19506109 PMID:19531215 PMID:19701947 PMID:19725996 PMID:19768578 PMID:19793053 PMID:19888426 PMID:20033787 PMID:20223039 PMID:20233475 PMID:20301519 PMID:20333795 PMID:20434453 PMID:20510605 PMID:20513532 PMID:20564245 PMID:20649969 PMID:20682701 PMID:20685668 PMID:20924072 PMID:20977806 PMID:21078199 PMID:21110124 PMID:21142386 PMID:21153778 PMID:21476993 PMID:21520333 PMID:21643010 PMID:21646762 PMID:21653199 PMID:21779980 PMID:21813476 PMID:21859464 PMID:21901162 PMID:21902576 PMID:21970370 PMID:21995949 PMID:22000517 PMID:22027476 PMID:22135120 PMID:22150579 PMID:22164339 PMID:22395475 PMID:22425061 PMID:22431159 PMID:22434720 PMID:22585170 PMID:22645652 PMID:22669205 PMID:22675565 PMID:22703879 PMID:22722839 PMID:22773231 PMID:22799487 PMID:22810696 PMID:22851115 PMID:22863191 PMID:22875147 PMID:22941256 PMID:22976915 PMID:22987206 PMID:22995991 PMID:23085758 PMID:23159591 PMID:23204322 PMID:23244118 PMID:23292937 PMID:23348723 PMID:23460355 PMID:23484150 PMID:23561487 PMID:23571587 PMID:23575299 PMID:23576677 PMID:23700467 PMID:23709753 PMID:23715166 PMID:23725351 PMID:23757202 PMID:23846443 PMID:23896379 PMID:23910461 PMID:23970361 PMID:24033266 PMID:24039736 PMID:24055113 PMID:24082139 PMID:24123366 PMID:24310308 PMID:24326041 PMID:24416237 PMID:24448499 PMID:24470207 PMID:24498620 PMID:24506336 PMID:24518971 PMID:24549056 PMID:24573554 PMID:24599579 PMID:24618431 PMID:24651453 PMID:24664542 PMID:24728327 PMID:24735542 PMID:24750145 PMID:24755471 PMID:24763289 PMID:24790607 PMID:24841357 PMID:24861525 PMID:24946964 PMID:25142776 PMID:25148578 PMID:25157968 PMID:25178641 PMID:25186627 PMID:25203624 PMID:25243319 PMID:25256751 PMID:25257991 PMID:25318351 PMID:25326637 PMID:25338684 PMID:25479140 PMID:25490678 PMID:25525159 PMID:25559809 PMID:25590978 PMID:25604157 PMID:25637381 PMID:25676610 PMID:25710373 PMID:25722345 PMID:25741868 PMID:25742471 PMID:25778705 PMID:25801821 PMID:25819062 PMID:25832318 PMID:25925381 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26138249 PMID:26161710 PMID:26163615 PMID:26173098 PMID:26178707 PMID:26187149 PMID:26207792 PMID:26252958 PMID:26300997 PMID:26309368 PMID:26314409 PMID:26320869 PMID:26332594 PMID:26336887 PMID:26338694 PMID:26373296 PMID:26378065 PMID:26394139 PMID:26414517 PMID:26416840 PMID:26421687 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26480326 PMID:26486734 PMID:26493165 PMID:26508446 PMID:26510091 PMID:26511139 PMID:26517685 PMID:26530882 PMID:26580448 PMID:26613750 PMID:26625971 PMID:26643872 PMID:26667234 PMID:26681312 PMID:26690363 PMID:26692440 PMID:26787237 PMID:26819281 PMID:26822149 PMID:26837502 PMID:26840078 PMID:26845104 PMID:26862949 PMID:26900293 PMID:26917275 PMID:26933808 PMID:26976419 PMID:27000756 PMID:27028212 PMID:27077911 PMID:27081525 PMID:27087319 PMID:27121310 PMID:27124905 PMID:27146957 PMID:27150160 PMID:27153395 PMID:27156442 PMID:27158207 PMID:27217144 PMID:27260402 PMID:27282352 PMID:27284491 PMID:27329244 PMID:27343414 PMID:27354939 PMID:27391059 PMID:27435373 PMID:27443514 PMID:27535533 PMID:27574554 PMID:27600092 PMID:27623068 PMID:27647783 PMID:27684187 PMID:27696107 PMID:27705013 PMID:27717299 PMID:27760322 PMID:27852271 PMID:27878467 PMID:27882345 PMID:27908614 PMID:27930734 PMID:27978560 PMID:27997549 PMID:28050010 PMID:28051113 PMID:28057616 PMID:28125075 PMID:28127413 PMID:28135136 PMID:28135145 PMID:28157215 PMID:28185118 PMID:28195393 PMID:28195569 PMID:28196074 PMID:28202063 PMID:28283864 PMID:28301460 PMID:28380452 PMID:28423518 PMID:28492532 PMID:28502729 PMID:28503720 PMID:28524162 PMID:28526081 PMID:28528518 PMID:28533537 PMID:28548127 PMID:28576136 PMID:28608266 PMID:28717660 PMID:28726808 PMID:28744403 PMID:28749474 PMID:28805986 PMID:28828701 PMID:28873162 PMID:28891274 PMID:28944238 PMID:29029407 PMID:29050249 PMID:29112017 PMID:29122597 PMID:29212164 PMID:29237405 PMID:29367705 PMID:29368261 PMID:29368341 PMID:29371908 PMID:29386312 PMID:29406563 PMID:29478780 PMID:29485843 PMID:29506128 PMID:29517769 PMID:29562902 PMID:29641532 PMID:29684080 PMID:29723602 PMID:29868112 PMID:29901124 PMID:29915797 PMID:29945567 PMID:29954149 PMID:29961768 PMID:29968043 PMID:29987844 PMID:30086788 PMID:30093976 PMID:30111351 PMID:30122538 PMID:30152102 PMID:30239046 PMID:30256826 PMID:30267214 PMID:30306255 PMID:30324682 PMID:30374176 PMID:30426508 PMID:30487145 PMID:30613976 PMID:30680046 PMID:30696621 PMID:30705875 PMID:30833958 PMID:30897307 PMID:30981987 PMID:31062380 PMID:31113927 PMID:31159747 PMID:31175917 PMID:31186761 PMID:31269945 PMID:31273614 PMID:31285513 PMID:31422818 PMID:31428572 PMID:31486992 PMID:31547467 PMID:31703593 PMID:31921681 PMID:32251017 PMID:32283892 PMID:32860008 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G Reep5 receptor accessory protein 5 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:12136240 NCBI chr18:27,128,462...27,159,693
Ensembl chr18:27,128,464...27,159,693
JBrowse link
G Srp19 signal recognition particle 19 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:12136240 NCBI chr18:27,114,822...27,121,062
Ensembl chr18:27,114,822...27,121,059
JBrowse link
familial adenomatous polyposis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE OMIM
ClinVar
PMID:11818965 PMID:12393807 PMID:12606733 PMID:15635083 PMID:15890374 PMID:15931596 PMID:15987719 PMID:16140997 PMID:16492921 PMID:16557584 PMID:16616356 PMID:16890597 PMID:17219385 PMID:17273161 PMID:17368238 PMID:17369389 PMID:17489848 PMID:17674103 PMID:17703316 PMID:17949294 PMID:17956577 PMID:18091433 PMID:18506705 PMID:18534194 PMID:18564191 PMID:19032956 PMID:19245865 PMID:19279422 PMID:19394335 PMID:19506731 PMID:19732775 PMID:19793053 PMID:19836313 PMID:19953527 PMID:19998059 PMID:20063264 PMID:20191381 PMID:20418187 PMID:20618354 PMID:20848659 PMID:21063410 PMID:21171015 PMID:21178863 PMID:21815886 PMID:21952991 PMID:22158503 PMID:22266422 PMID:22297469 PMID:22473953 PMID:22703879 PMID:22744763 PMID:22865608 PMID:22926731 PMID:22976915 PMID:23007840 PMID:23035301 PMID:23108399 PMID:23322991 PMID:23361220 PMID:23507534 PMID:23561487 PMID:23625202 PMID:23805267 PMID:24033266 PMID:24082139 PMID:24278394 PMID:24444654 PMID:24569162 PMID:24691292 PMID:24728327 PMID:24953332 PMID:25525159 PMID:25741868 PMID:25820570 PMID:25937855 PMID:26467025 PMID:26822237 PMID:26845104 PMID:27153395 PMID:27705013 PMID:27829682 PMID:28141798 PMID:28152038 PMID:28492532 PMID:28634180 PMID:28944238 PMID:29330641 PMID:30487145 NCBI chr 5:135,663,328...135,675,348
Ensembl chr 5:135,663,371...135,675,344
JBrowse link
familial adenomatous polyposis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nthl1 nth-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 3 OMIM
ClinVar
PMID:12144783 PMID:18515411 PMID:20054297 PMID:25741868 PMID:25938944 PMID:26431160 PMID:26559593 PMID:26649986 PMID:27713038 PMID:27720914 PMID:28492532 PMID:30552997 PMID:31227763 PMID:31285513 NCBI chr10:13,996,660...14,002,827
Ensembl chr10:13,996,645...14,002,910
JBrowse link
familial adenomatous polyposis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhfr dihydrofolate reductase ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 4 ClinVar PMID:28492532 NCBI chr 2:21,931,887...21,958,927
Ensembl chr 2:21,931,493...21,962,453
JBrowse link
G Msh3 mutS homolog 3 ISO ClinVar Annotator: match by term: FAMILIAL ADENOMATOUS POLYPOSIS 4
ClinVar Annotator: match by term: Familial adenomatous polyposis 4
ClinVar
OMIM
PMID:8782829 PMID:21128252 PMID:22179786 PMID:25741868 PMID:27476653 PMID:27712984 PMID:28492532 PMID:28875981 PMID:28944238 NCBI chr 2:21,790,048...21,931,791
Ensembl chr 2:21,790,044...21,931,720
JBrowse link
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:20488708 RGD:11039024 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Cand2 cullin-associated and neddylation-dissociated 2 (putative) ISO RGD PMID:31426861 RGD:18899564 NCBI chr 4:147,686,487...147,714,593
Ensembl chr 4:147,686,490...147,714,585
JBrowse link
Familial Cystic Parathyroid Adenomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Cystic parathyroid adenoma ClinVar PMID:12434154 NCBI chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
JBrowse link
familial hepatic adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Hepatic adenomas, familial OMIM
ClinVar
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 PMID:9166684 PMID:9313763 PMID:9439666 PMID:10333057 PMID:10447526 PMID:10754480 PMID:11058894 PMID:11315851 PMID:12050210 PMID:12355088 PMID:12530534 PMID:12574234 PMID:12618559 PMID:15649945 PMID:15928245 PMID:17054605 PMID:17407387 PMID:17440016 PMID:17573900 PMID:17937063 PMID:17989309 PMID:18414213 PMID:18672310 PMID:21051477 PMID:21628466 PMID:23551881 PMID:23607861 PMID:25174781 PMID:26467025 PMID:28862987 PMID:29417725 PMID:30814848 NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
JBrowse link
Familial Isolated Pituitary Adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aip aryl-hydrocarbon receptor-interacting protein ISO ClinVar Annotator: match by term: Familial Isolated Pituitary Adenomas
ClinVar Annotator: match by term: Pituitary adenoma, familial isolated
ClinVar PMID:26186299 NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Familial Isolated Pituitary Adenomas ClinVar PMID:25741868 NCBI chr 8:116,370,730...116,391,337
Ensembl chr 8:116,370,744...116,391,307
JBrowse link
Ferguson-Smith tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr1 transforming growth factor, beta receptor 1 susceptibility ISO ClinVar Annotator: match by OMIM:132800
ClinVar Annotator: match by term: Multiple self healing squamous epithelioma
ClinVar Annotator: match by term: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:2647812 PMID:5173258 PMID:8499949 PMID:16928994 PMID:19542084 PMID:21358634 PMID:23884466 PMID:24033266 PMID:24793577 PMID:25110237 PMID:25741868 PMID:25834947 PMID:26848186 PMID:26877057 PMID:27611364 PMID:28492532 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
Fibroadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO mRNA, protein:increased expression:breast RGD PMID:17254320 RGD:2293756 NCBI chr 1:220,826,560...220,835,066
Ensembl chr 1:220,826,560...220,835,066
JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25038752 PMID:26437033 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
G Rara retinoic acid receptor, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26437033 NCBI chr10:86,838,819...86,884,224
Ensembl chr10:86,860,685...86,884,210
JBrowse link
G Wnt2 Wnt family member 2 ISO mRNA:increased expression:breast RGD PMID:8168088 RGD:2291878 NCBI chr 4:45,286,845...45,332,899
Ensembl chr 4:45,292,437...45,332,420
JBrowse link
G Wnt4 Wnt family member 4 ISO breast fibroadenoma RGD PMID:8168088 RGD:2291878 NCBI chr 5:155,649,238...155,668,065
Ensembl chr 5:155,649,217...155,672,579
JBrowse link
focal nonepidermolytic palmoplantar keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kb15 type II keratin Kb15 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal ClinVar PMID:19609311 NCBI chr 7:143,208,034...143,217,771
Ensembl chr 7:143,208,527...143,217,535
JBrowse link
G Krt16 keratin 16 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal ClinVar PMID:8595410 PMID:16250206 PMID:25741868 NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
JBrowse link
focal nonepidermolytic palmoplantar keratoderma 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt16 keratin 16 ISO OMIM NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
JBrowse link
focal nonepidermolytic palmoplantar keratoderma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2 ClinVar NCBI chr10:59,893,064...59,910,769
Ensembl chr10:59,879,850...59,911,051
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2 OMIM
ClinVar
PMID:21285946 PMID:24452206 PMID:25285920 PMID:25741868 PMID:28492532 PMID:28587736 NCBI chr10:59,829,755...59,863,780
Ensembl chr10:59,831,241...59,860,987
JBrowse link
follicular adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Minpp1 multiple inositol-polyphosphate phosphatase 1 ISO ClinVar Annotator: match by term: Thyroid adenoma, follicular ClinVar PMID:11297621 NCBI chr 1:251,045,352...251,071,045
Ensembl chr 1:251,045,440...251,071,040
JBrowse link
ganglioglioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Ganglioglioma ClinVar PMID:25741868 PMID:28492532 NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Childhood ganglioglioma ClinVar PMID:19363522 PMID:19794125 PMID:21190184 PMID:21343559 PMID:21716161 PMID:22535154 PMID:24033266 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Ganglioglioma ClinVar PMID:7607663 PMID:16835897 PMID:16944272 PMID:19738042 PMID:24357598 PMID:25325900 PMID:25741868 PMID:26467025 PMID:27980226 PMID:28492532 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
Gardner Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Gardner syndrome
ClinVar PMID:1316610 PMID:1651563 PMID:2164769 PMID:2478327 PMID:7485167 PMID:8162051 PMID:8381579 PMID:8381580 PMID:8594558 PMID:9375853 PMID:9487968 PMID:9824584 PMID:9916927 PMID:10094547 PMID:10982189 PMID:11001924 PMID:11317365 PMID:11466687 PMID:12007223 PMID:12173026 PMID:14633595 PMID:15108286 PMID:15311282 PMID:16134147 PMID:16317745 PMID:17135589 PMID:17293347 PMID:18199528 PMID:18433509 PMID:20223039 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21779980 PMID:21859464 PMID:22000517 PMID:22135120 PMID:22703879 PMID:23159591 PMID:23561487 PMID:24033266 PMID:24728327 PMID:24790607 PMID:24841357 PMID:25142776 PMID:25637381 PMID:25741868 PMID:26332594 PMID:26467025 PMID:26613750 PMID:26845104 PMID:26917275 PMID:27435373 PMID:27930734 PMID:28492532 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
glottis squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wrap53 WD repeat containing, antisense to TP53 disease_progression ISO RGD PMID:28849066 RGD:21081521 NCBI chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857
JBrowse link
growth hormone secreting pituitary adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aip aryl-hydrocarbon receptor-interacting protein ISO ClinVar Annotator: match by OMIM:102200
ClinVar Annotator: match by term: Somatotroph adenoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2200621 PMID:5320367 PMID:12213383 PMID:16728643 PMID:17242703 PMID:17244780 PMID:17299063 PMID:17341560 PMID:17360484 PMID:17371465 PMID:17609395 PMID:18381572 PMID:18484068 PMID:19366855 PMID:19474519 PMID:19556287 PMID:19955762 PMID:20354355 PMID:20457215 PMID:20506337 PMID:20507346 PMID:20530095 PMID:20570174 PMID:20595802 PMID:20685857 PMID:21208107 PMID:21340166 PMID:21348957 PMID:21454441 PMID:21512261 PMID:21753072 PMID:21984905 PMID:22287093 PMID:22319033 PMID:22720333 PMID:22915287 PMID:23038625 PMID:23038925 PMID:23300914 PMID:23321498 PMID:23371967 PMID:23633209 PMID:23743763 PMID:24033266 PMID:24050928 PMID:24423289 PMID:25019383 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25350067 PMID:25614825 PMID:25741868 PMID:26186299 PMID:26792934 PMID:27033541 PMID:27153395 PMID:27253664 PMID:27267386 PMID:27650164 PMID:28220018 PMID:28255869 PMID:28427099 PMID:28492532 PMID:28634279 PMID:29074612 PMID:29308445 PMID:29729370 PMID:30262796 PMID:30461320 PMID:30941100 PMID:32324286 NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:pituitary gland: RGD PMID:18981426 RGD:8662821 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1611713 PMID:2042694 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:11254676 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Gpr101 G protein-coupled receptor 101 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:140,296,220...140,303,743
Ensembl chr  X:140,299,770...140,303,686
JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO mRNA:decreased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr16:37,457,134...37,495,758
Ensembl chr16:37,457,135...37,495,758
JBrowse link
G Men1 menin 1 ISS
ISO
OMIM:102200
ClinVar Annotator: match by term: Somatotroph adenoma
MouseDO
ClinVar
PMID:30630164 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2042694 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
growth hormone secreting pituitary adenoma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2 OMIM
ClinVar
PMID:25470569 PMID:25806919 PMID:25806920 PMID:25806921 PMID:26792934 PMID:26815903 PMID:27245663 PMID:27498687 PMID:28492532 PMID:29389097 NCBI chr  X:140,296,220...140,303,743
Ensembl chr  X:140,299,770...140,303,686
JBrowse link
head and neck squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25275603 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcc1 ATP binding cassette subfamily C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25275603 NCBI chr10:549,537...672,235
Ensembl chr10:549,883...672,196
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25275603 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25275603 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:11569495 PMID:11853795 PMID:12399961 PMID:12623848 PMID:14745431 PMID:19164531 PMID:19264234 PMID:19811824 PMID:21489624 PMID:23676790 PMID:24236021 PMID:25157968 PMID:31775759 NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23873848 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:26619011 PMID:28492532 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Ankrd17 ankyrin repeat domain 17 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:28580594 NCBI chr14:19,291,025...19,431,521
Ensembl chr14:19,318,565...19,431,515
JBrowse link
G Atp7b ATPase copper transporting beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:12509969 NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:26619011 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18186519 PMID:18368129 PMID:18398503 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19913317 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28492532 PMID:28854169 PMID:28891408 PMID:29595366 PMID:29925953 PMID:31775759 PMID:31779674 PMID:31891627 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:26614431 NCBI chr17:76,991,722...77,093,515
Ensembl chr17:76,995,043...77,093,308
JBrowse link
G Ccna1 cyclin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23358896 PMID:29464035 NCBI chr 2:144,456,689...144,503,570
Ensembl chr 2:144,458,153...144,467,912
JBrowse link
G Ccna2 cyclin A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29464035 NCBI chr 2:123,274,727...123,282,266
Ensembl chr 2:123,275,881...123,282,214
JBrowse link
G Ccnb1 cyclin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29464035 NCBI chr 2:30,782,133...30,791,106
Ensembl chr 2:30,783,915...30,791,221
JBrowse link
G Ccnd1 cyclin D1 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD PMID:26909611 PMID:29464035, PMID:9796972 RGD:13434911 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Ccne1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29464035 NCBI chr 1:94,485,830...94,495,112
Ensembl chr 1:94,485,832...94,494,980
JBrowse link
G Ccne2 cyclin E2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29464035 NCBI chr 5:24,434,077...24,446,406
Ensembl chr 5:24,434,872...24,446,406
JBrowse link
G Cdk2 cyclin dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29464035 NCBI chr 7:3,124,953...3,132,533
Ensembl chr 7:3,124,954...3,132,457
JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29464035 NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29464035 NCBI chr 4:27,781,728...27,969,653
Ensembl chr 4:27,785,647...27,966,398
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A disease_progression ISO DNA:SNPs: :rs3731217, rs3088440 (human)
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic
ClinVar
CTD
PMID:7780957 PMID:8153634 PMID:8521414 PMID:8595405 PMID:8668202 PMID:8723678 PMID:8755727 PMID:9324288 PMID:9751050 PMID:9823374 PMID:9856841 PMID:10491434 PMID:11477665 PMID:11500805 PMID:11687599 PMID:12072543 PMID:15140233 PMID:15146471 PMID:16234564 PMID:16896043 PMID:16905682 PMID:17992122 PMID:18573309 PMID:21462282 PMID:21609436 PMID:24991542 PMID:25157968 PMID:25356972 PMID:25741868 PMID:26192916 PMID:26619011 PMID:26681309 PMID:26775776 PMID:26909611 PMID:28492532 PMID:28830827 PMID:29983899 PMID:31775759, PMID:21381012 RGD:8552291 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cntn4 contactin 4 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:28595731 NCBI chr 4:137,785,166...138,787,527
Ensembl chr 4:138,269,142...138,787,525
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:29551561 NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:9927029 PMID:10192393 PMID:23265383 PMID:25157968 PMID:26619011 PMID:26822237 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta susceptibility ISO DNA:SNP,haplotype:promoter:-149C>T,-579G>T(human) RGD PMID:18455294 RGD:9589078 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar PMID:15118073 PMID:15118125 PMID:15788655 PMID:17177598 PMID:20415598 PMID:21531084 PMID:23358982 PMID:24712396 PMID:25157968 PMID:25969368 PMID:26101090 PMID:26619011 PMID:28492532 PMID:28874603 PMID:31775759 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:26619011 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:22908275 PMID:26619011 NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
JBrowse link
G Fancb FA complementation group B ISO DNA:hypermethylation:promoter RGD PMID:20332657 RGD:11344903 NCBI chr  X:31,124,018...31,140,790
Ensembl chr  X:31,124,018...31,140,711
JBrowse link
G Fancd2 FA complementation group D2 ISO RGD PMID:20935219 RGD:11344907 NCBI chr 4:145,489,869...145,551,479
Ensembl chr 4:145,489,869...145,551,479
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:25741868 PMID:26619011 NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO associated with human papillomavirus;DNA:missense mutation:cds: p.S249C (human)
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma
ClinVar PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11241532 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16841094 PMID:17384684 PMID:18642369 PMID:19381019 PMID:19749790 PMID:25157968 PMID:25606676 PMID:25741868 PMID:26619011 PMID:28492532, PMID:25056374 RGD:38500237 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Fhit fragile histidine triad diadenosine triphosphatase ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:28580594 NCBI chr15:15,697,292...16,862,873 JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 ISO ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar PMID:26614431 NCBI chr20:53,791,428...54,517,691
Ensembl chr20:53,789,760...54,517,709
JBrowse link
G Hoxa5 homeo box A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22227861
G