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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 More... NCBI chr19:4,113,756...4,126,559
Ensembl chr19:4,114,446...4,125,858
JBrowse link
G Avpr1b arginine vasopressin receptor 1B ISO RGD PMID:23884782 RGD:14700670 NCBI chr 1:131,599,114...131,612,000
Ensembl chr 1:131,599,239...131,612,000
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16195406 NCBI chr14:46,383,525...46,390,669
Ensembl chr14:46,383,520...46,390,669
JBrowse link
G Usp8 ubiquitin specific peptidase 8 ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
PMID:25485838 NCBI chr 2:126,707,201...126,759,314
Ensembl chr 2:126,707,328...126,759,297
JBrowse link
adenoid squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1a HNF1 homeobox A IMP RGD PMID:10489374 RGD:150540314 NCBI chr 5:114,948,980...114,971,062
Ensembl chr 5:114,948,980...114,971,094
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 (Junior blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21544799 NCBI chr 6:58,584,491...58,692,451
Ensembl chr 6:58,584,523...58,695,676
JBrowse link
G Aip aryl-hydrocarbon receptor-interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975028 NCBI chr19:4,113,756...4,126,559
Ensembl chr19:4,114,446...4,125,858
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18927292 NCBI chr 6:116,410,071...116,461,178
Ensembl chr 6:116,410,077...116,461,178
JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17684125 NCBI chr15:10,981,756...10,996,624
Ensembl chr15:10,981,756...10,996,626
JBrowse link
G Apc APC, WNT signaling pathway regulator ISO DNA:frameshift mutations, nonsense mutations:exon:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:9111214 PMID:10383901 PMID:12034317 PMID:19092804 PMID:30188895 More... RGD:2317202 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Atp1a1 ATPase, Na+/K+ transporting, alpha 1 polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:23416519 PMID:23913004 NCBI chr 3:101,576,219...101,604,707
Ensembl chr 3:101,576,219...101,604,684
JBrowse link
G Atp2a3 ATPase, Ca++ transporting, ubiquitous ISO CTD Direct Evidence: marker/mechanism CTD PMID:23913004 NCBI chr11:72,961,169...72,993,043
Ensembl chr11:72,961,169...72,993,044
JBrowse link
G Atp2b3 ATPase, Ca++ transporting, plasma membrane 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23416519 NCBI chr  X:73,502,749...73,573,275
Ensembl chr  X:73,503,086...73,571,005
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10223192 PMID:10426811 NCBI chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274
JBrowse link
G Bcl2l1 BCL2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10426811 NCBI chr 2:152,758,732...152,833,803
Ensembl chr 2:152,780,668...152,831,728
JBrowse link
G Cacna1d calcium channel, voltage-dependent, L type, alpha 1D subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23913001 PMID:23913004 NCBI chr14:30,039,941...30,491,156
Ensembl chr14:30,039,939...30,491,455
JBrowse link
G Ctnnb1 catenin (cadherin associated protein), beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10223192 PMID:10965019 NCBI chr 9:120,933,400...120,960,507
Ensembl chr 9:120,929,216...120,960,507
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11376689 NCBI chr17:79,706,940...79,715,061
Ensembl chr17:79,701,537...79,715,061
JBrowse link
G Efemp1 epidermal growth factor-containing fibulin-like extracellular matrix protein 1 ISO protein:decreased expression: : RGD PMID:24080855 RGD:10401654 NCBI chr11:28,853,154...28,926,743
Ensembl chr11:28,853,204...28,926,743
JBrowse link
G Esr2 estrogen receptor 2 (beta) ISO ratio with Esr1;mRNA:decreased expression:thyroid gland (human) RGD PMID:11721176 RGD:8694118 NCBI chr12:76,120,419...76,177,259
Ensembl chr12:76,120,419...76,177,259
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16926031 NCBI chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513
JBrowse link
G Gjb1 gap junction protein, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16926031 NCBI chr  X:101,376,376...101,385,629
Ensembl chr  X:101,376,378...101,385,629
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1611713 NCBI chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
JBrowse link
G Ins2 insulin II IEP protein:increased secretion:serum RGD PMID:12917331 RGD:2317273 NCBI chr 7:142,678,656...142,679,726
Ensembl chr 7:142,678,656...142,743,381
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 9:32,314,706...32,344,380
Ensembl chr 9:32,314,707...32,344,350
JBrowse link
G Klf5 Kruppel-like factor 5 IEP RGD PMID:14726538 RGD:1304288 NCBI chr14:99,298,691...99,313,412
Ensembl chr14:99,298,691...99,315,036
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:8761429 PMID:10545420 PMID:10813127 PMID:25851810 NCBI chr 6:145,216,699...145,250,420
Ensembl chr 6:145,216,699...145,250,239
JBrowse link
G Men1 multiple endocrine neoplasia 1 IMP DNA:deletion:exons RGD PMID:12917331 RGD:2317273 NCBI chr19:6,334,979...6,340,894
Ensembl chr19:6,334,979...6,340,891
JBrowse link
G Mir144 microRNA 144 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr11:78,073,005...78,073,070
Ensembl chr11:78,073,005...78,073,070
JBrowse link
G Mir345 microRNA 345 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr12:108,836,973...108,837,068
Ensembl chr12:108,836,973...108,837,068
JBrowse link
G Mir425 microRNA 425 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 9:108,568,777...108,568,861
Ensembl chr 9:108,568,777...108,568,861
JBrowse link
G Mir497 microRNA 497 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr11:70,234,717...70,234,800
Ensembl chr11:70,234,717...70,234,800
JBrowse link
G Mir500 microRNA 500 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr  X:7,237,683...7,237,774
Ensembl chr  X:7,237,683...7,237,774
JBrowse link
G Mir5112 microRNA 5112 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr18:82,720,281...82,720,340
Ensembl chr18:82,720,281...82,720,340
JBrowse link
G Mir690 microRNA 690 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr16:28,599,935...28,600,043
Ensembl chr16:28,599,935...28,600,043
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17389618 NCBI chr13:68,560,780...68,582,169
Ensembl chr13:68,560,780...68,582,149
JBrowse link
G Muc2 mucin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12468628 NCBI chr 7:141,690,340...141,754,691
Ensembl chr 7:141,690,340...141,754,693
JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO protein:increased expression:gallbladder RGD PMID:15100237 RGD:2326070 NCBI chr 9:49,502,129...49,799,393
Ensembl chr 9:49,502,136...49,798,925
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr11:79,339,590...79,581,609
Ensembl chr11:79,339,693...79,581,612
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2274009 PMID:12058109 NCBI chr13:27,057,570...27,065,204
Ensembl chr13:27,057,570...27,065,205
JBrowse link
G Ptma prothymosin alpha ISO CTD Direct Evidence: therapeutic CTD PMID:10822126 NCBI chr 1:86,526,557...86,530,712
Ensembl chr 1:86,526,726...86,530,712
JBrowse link
G Rbmy RNA binding motif protein, Y chromosome EXP CTD Direct Evidence: marker/mechanism CTD PMID:22073224 NCBI chr  Y:2,830,680...2,841,858
Ensembl chr  Y:2,830,680...2,841,854
JBrowse link
G Selenop selenoprotein P ISO CTD Direct Evidence: marker/mechanism CTD PMID:18483336 NCBI chr15:3,270,767...3,280,510
Ensembl chr15:3,268,547...3,280,508
JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16963246 NCBI chr10:77,032,269...77,050,432
Ensembl chr10:77,032,241...77,061,002
JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr11:79,993,106...80,034,123
Ensembl chr11:79,993,106...80,034,123
JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17389618 NCBI chr11:3,917,077...3,932,078
Ensembl chr11:3,917,192...3,932,159
JBrowse link
G Trp53 transformation related protein 53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21946351 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17823441 NCBI chr 2:126,791,558...126,876,261
Ensembl chr 2:126,791,565...126,876,230
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8413627 NCBI chr12:91,400,993...91,540,509
Ensembl chr12:91,384,563...91,549,808
JBrowse link
G Txnrd1 thioredoxin reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18483336 NCBI chr10:82,833,951...82,897,724
Ensembl chr10:82,833,951...82,897,712
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16061637 NCBI chr 6:113,623,994...113,631,634
Ensembl chr 6:113,623,959...113,631,633
JBrowse link
Adenomatous Polyps term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12810952 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Cdx2 caudal type homeobox 2 IMP RGD PMID:9052785 RGD:734757 NCBI chr 5:147,300,900...147,307,249
Ensembl chr 5:147,300,805...147,307,270
JBrowse link
G Defa21 defensin, alpha, 21 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15844706 NCBI chr 8:21,025,545...21,026,517
Ensembl chr 8:21,025,545...21,026,516
JBrowse link
G Smo smoothened, frizzled class receptor IMP RGD PMID:19427313 RGD:150340551 NCBI chr 6:29,735,497...29,761,366
Ensembl chr 6:29,735,503...29,761,365
JBrowse link
adenosquamous gallbladder carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr2 discoidin domain receptor family, member 2 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr 1:169,972,307...170,110,836
Ensembl chr 1:169,972,307...170,110,762
JBrowse link
G Ifitm1 interferon induced transmembrane protein 1 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr 7:140,967,429...140,969,827
Ensembl chr 7:140,967,221...140,969,825
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, alpha 1 polypeptide ISO ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma ClinVar PMID:23416519 NCBI chr 3:101,576,219...101,604,707
Ensembl chr 3:101,576,219...101,604,684
JBrowse link
G Atp2b3 ATPase, Ca++ transporting, plasma membrane 3 ISO ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma ClinVar PMID:23416519 NCBI chr  X:73,502,749...73,573,275
Ensembl chr  X:73,503,086...73,571,005
JBrowse link
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 ISO mRNA:decreased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr15:74,834,892...74,841,643
Ensembl chr15:74,834,125...74,841,643
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO mRNA:increased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr15:74,850,618...74,856,231
Ensembl chr15:74,851,010...74,856,318
JBrowse link
G Prkaca protein kinase, cAMP dependent, catalytic, alpha ISO associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human) RGD PMID:24855271 RGD:13515122 NCBI chr 8:83,972,978...83,996,444
Ensembl chr 8:83,972,993...83,996,443
JBrowse link
G Prkacb protein kinase, cAMP dependent, catalytic, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669941 NCBI chr 3:146,729,579...146,812,946
Ensembl chr 3:146,729,574...146,812,990
JBrowse link
ameloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf Braf transforming gene ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 6:29,735,497...29,761,366
Ensembl chr 6:29,735,503...29,761,365
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:134,588,169...134,601,005
Ensembl chr  X:134,588,149...134,601,125
JBrowse link
G Naga N-acetyl galactosaminidase, alpha ISO Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chr15:82,329,532...82,338,884
Ensembl chr15:82,329,532...82,338,925
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 5:3,689,999...3,803,124
Ensembl chr 5:3,690,000...3,802,925
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 5:3,803,156...3,844,515
Ensembl chr 5:3,803,184...3,845,564
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 1 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 6:113,326,972...113,334,877
Ensembl chr 6:113,326,972...113,335,068
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr 1:52,119,438...52,161,865
Ensembl chr 1:52,119,440...52,161,865
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr11:100,886,806...100,939,594
Ensembl chr11:100,885,098...100,939,540
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 chr17:24,595,816...24,632,676
Ensembl chr17:24,595,816...24,632,630
JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 chemokine (C-C motif) ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 1:83,116,766...83,119,167
Ensembl chr 1:83,116,766...83,119,167
JBrowse link
G Cd8a CD8 antigen, alpha chain ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 6:71,373,427...71,379,171
Ensembl chr 6:71,373,427...71,379,173
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:60,909,025...60,915,832
Ensembl chr 1:60,887,000...60,915,832
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:7,579,676...7,595,243
Ensembl chr  X:7,573,644...7,595,245
JBrowse link
G Ifna16 interferon alpha 16 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 4:88,676,287...88,676,856
Ensembl chr 4:88,675,915...88,676,924
JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
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 chr11:44,400,063...44,414,677
Ensembl chr11:44,400,063...44,414,033
JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
G Il21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr 3:37,222,759...37,232,636
Ensembl chr 3:37,222,759...37,232,636
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 chr11:53,612,460...53,618,665
Ensembl chr11:53,602,982...53,618,669
JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Klrk1 killer cell lectin-like receptor subfamily K, member 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 6:129,610,323...129,623,903
Ensembl chr 6:129,610,323...129,623,864
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 treatment ISO mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr14:33,377,898...33,447,353
Ensembl chr14:33,377,898...33,447,158
JBrowse link
G Myd88 myeloid differentiation primary response gene 88 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:119,335,934...119,340,018
Ensembl chr 9:119,335,934...119,341,411
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:4,337,715...4,345,184
Ensembl chr 7:4,337,724...4,345,164
JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:94,038,305...94,052,553
Ensembl chr 1:94,038,305...94,052,553
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 5:121,130,533...121,191,397
Ensembl chr 5:121,130,533...121,191,397
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 6:124,720,707...124,738,709
Ensembl chr 6:124,720,707...124,738,714
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:45,395,665...45,411,075
Ensembl chr 8:45,395,665...45,411,080
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:167,303,380...167,330,574
Ensembl chr  X:167,304,929...167,330,558
JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:167,241,123...167,264,329
Ensembl chr  X:167,242,696...167,264,329
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:106,222,598...106,226,876
Ensembl chr 9:106,222,598...106,226,883
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Tnfrsf18 tumor necrosis factor receptor superfamily, member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:156,026,322...156,028,894
Ensembl chr 4:156,026,164...156,028,895
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 (peptidyl-dipeptidase A) 1 treatment ISO protein:increased activity:heart left ventricle (rat) RGD PMID:22768235 PMID:8386093 RGD:12859285, RGD:12880017 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Ackr1 atypical chemokine receptor 1 (Duffy blood group) ISO RGD PMID:24429330 RGD:9681736 NCBI chr 1:173,331,886...173,333,503
Ensembl chr 1:173,331,886...173,333,750
JBrowse link
G Angpt2 angiopoietin 2 ISO mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chr 8:18,690,263...18,741,562
Ensembl chr 8:18,690,263...18,741,562
JBrowse link
G Arrb1 arrestin, beta 1 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr 7:99,535,147...99,606,772
Ensembl chr 7:99,535,466...99,606,771
JBrowse link
G Arrb2 arrestin, beta 2 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr11:70,432,485...70,440,828
Ensembl chr11:70,432,635...70,440,828
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO in Long Evans rats;mRNA:increased expression:aorta RGD PMID:16428894 RGD:8552771 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Des desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chr 1:75,360,292...75,368,579
Ensembl chr 1:75,360,329...75,368,579
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:10541235 RGD:8655590 NCBI chr 3:37,348,477...37,410,106
Ensembl chr 3:37,348,346...37,410,108
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO
IDA
protein:increased expression:ileal vein RGD PMID:17398390 PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO
IDA
RGD PMID:17398390 PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Timp4 tissue inhibitor of metalloproteinase 4 ISO protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chr 6:115,244,444...115,252,205
Ensembl chr 6:115,241,892...115,252,205
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:brain cortex, brain dura mater: RGD PMID:24626343 PMID:10541235 RGD:8551823, RGD:8655590 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
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, type II-like 1 IMP RGD PMID:11062473 RGD:1300250 NCBI chr15:101,128,522...101,145,336
Ensembl chr15:101,128,522...101,145,336
JBrowse link
G Eng endoglin susceptibility ISO
IMP
associated with Telangiectasia, Hereditary Hemorrhagic; RGD PMID:8728706 PMID:24520391 RGD:11041184, RGD:11041564 NCBI chr 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669
JBrowse link
G Ephb4 Eph receptor B4 ISO ClinVar Annotator: match by term: Arteriovenous malformation ClinVar PMID:25741868 PMID:28687708 PMID:30578106 PMID:30760892 NCBI chr 5:137,350,109...137,374,522
Ensembl chr 5:137,350,109...137,378,669
JBrowse link
G Glmn glomulin, FKBP associated protein ISO glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chr 5:107,548,962...107,597,888
Ensembl chr 5:107,548,967...107,597,888
JBrowse link
G Map2 microtubule-associated protein 2 ISO protein:decreased expression:hippocampus RGD PMID:20873448 RGD:6483324 NCBI chr 1:66,175,202...66,442,583
Ensembl chr 1:66,175,273...66,442,583
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16720380 RGD:1582655 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:14639529 PMID:15917201 RGD:1581296 NCBI chr13:85,214,699...85,289,486
Ensembl chr13:85,214,780...85,289,130
JBrowse link
G Tek TEK receptor tyrosine kinase susceptibility ISO DNA:missense mutation: :p.R849W RGD PMID:8980225 RGD:1578533 NCBI chr 4:94,739,086...94,874,976
Ensembl chr 4:94,739,289...94,874,976
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, type II-like 1 IEA OMIM:108010 MouseDO NCBI chr15:101,128,522...101,145,336
Ensembl chr15:101,128,522...101,145,336
JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr13:81,095,068...81,633,391
Ensembl chr13:81,095,068...81,633,154
JBrowse link
G Braf Braf transforming gene 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 More... NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
G Cacna1h calcium channel, voltage-dependent, T type, alpha 1H subunit ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr17:25,374,285...25,436,334
Ensembl chr17:25,374,285...25,433,783
JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr18:16,588,877...16,809,246
Ensembl chr18:16,588,877...16,809,246
JBrowse link
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr11:16,752,203...16,913,907
Ensembl chr11:16,752,203...16,918,158
JBrowse link
G Eng endoglin disease_progression ISO
IEA
IMP
DNA:polymorphism: : 207G>A(human)
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
OMIM:108010
ClinVar
MouseDO
RGD
PMID:25741868 PMID:24876084 PMID:24520391 RGD:11041171, RGD:11041564 NCBI chr 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669
JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 5:147,561,604...147,726,438
Ensembl chr 5:147,561,604...147,726,011
JBrowse link
G Gli2 GLI-Kruppel family member GLI2 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chr 1:118,834,061...119,054,405
Ensembl chr 1:118,834,132...119,053,619
JBrowse link
G Il17rd interleukin 17 receptor D ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053 PMID:25741868 NCBI chr14:27,038,964...27,107,286
Ensembl chr14:27,038,941...27,107,286
JBrowse link
G Il6 interleukin 6 ISO OMIM NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Kdr kinase insert domain protein receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 5:75,932,827...75,979,072
Ensembl chr 5:75,932,827...75,978,458
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
OMIM
ClinVar
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More... NCBI chr 6:145,216,699...145,250,420
Ensembl chr 6:145,216,699...145,250,239
JBrowse link
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:120,923,411...120,979,396
Ensembl chr10:120,923,413...120,979,332
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 1:39,900,902...40,026,310
Ensembl chr 1:39,900,913...40,026,310
JBrowse link
G Notch4 notch 4 IMP
IEA
OMIM:108010 MouseDO
RGD
PMID:19546852 RGD:6480671 NCBI chr17:34,564,286...34,588,543
Ensembl chr17:34,564,268...34,588,503
JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:75,516,490...75,556,852
Ensembl chr 3:75,516,490...75,556,856
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr11:72,047,528...72,135,889
Ensembl chr11:72,047,528...72,135,778
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 1:10,993,273...11,303,683
Ensembl chr 1:10,993,465...11,303,681
JBrowse link
G Sars seryl-aminoacyl-tRNA synthetase ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 3:108,424,864...108,445,259
Ensembl chr 3:108,424,865...108,445,209
JBrowse link
G Scube2 signal peptide, CUB domain, EGF-like 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:109,798,690...109,865,679
Ensembl chr 7:109,798,676...109,865,679
JBrowse link
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:86,048,746...86,498,926
Ensembl chr10:86,055,125...86,498,896
JBrowse link
G Timp3 tissue inhibitor of metalloproteinase 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:86,300,412...86,349,505
Ensembl chr10:86,300,372...86,349,506
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:16388189 RGD:1580567 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Zfyve16 zinc finger, FYVE domain containing 16 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr13:92,487,749...92,530,810
Ensembl chr13:92,487,108...92,530,868
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, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: Brain tumor-polyposis syndrome 2 ClinVar PMID:1316610 PMID:1324223 PMID:8990002 PMID:9950360 PMID:11317365 More... NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
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:25741868 More... NCBI chr 4:47,091,894...47,123,058
Ensembl chr 4:47,091,909...47,123,070
JBrowse link
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar NCBI chr11:16,752,203...16,913,907
Ensembl chr11:16,752,203...16,918,158
JBrowse link
G Gm36566 predicted gene, 36566 ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 More... NCBI chr19:32,754,447...32,757,412 JBrowse link
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: Cowden syndrome 1
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More... NCBI chr 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
JBrowse link
G Pten phosphatase and tensin homolog IEA
ISO
OMIM:153480
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome
MouseDO
ClinVar
OMIM
PMID:1097835 PMID:2338203 PMID:7728760 PMID:8673088 PMID:8980400 More... NCBI chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Sdhb succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ISO ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA ClinVar PMID:27604842 PMID:28492532 NCBI chr 4:140,961,271...140,979,198
Ensembl chr 4:140,961,203...140,979,193
JBrowse link
basaloid squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO DNA:missense mutations, nonsense mutations RGD PMID:25395299 RGD:150523793 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
JBrowse link
bile duct adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf Braf transforming gene IAGP DNA:missense mutation:cds:p.V600E (human) RGD PMID:25704541 RGD:11521169 NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
bladder squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pten phosphatase and tensin homolog disease_progression ISO associated with schistosomiasis;protein:decreased expression:urothelium (human) RGD PMID:26916953 RGD:127285612 NCBI chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
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 7:144,929,931...144,939,831
Ensembl chr 7:144,929,931...144,939,925
JBrowse link
G Ccne1 cyclin E1 ISO associated with Vulvar Neoplasms;mRNA:increased expression:vulva RGD PMID:17471573 RGD:2289255 NCBI chr 7:38,097,984...38,107,490
Ensembl chr 7:38,097,984...38,107,534
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A (P21) ISO protein:increased expression:skin: RGD PMID:10583111 RGD:8662826 NCBI chr17:29,090,979...29,100,722
Ensembl chr17:29,090,976...29,100,727
JBrowse link
G Nrf1 nuclear respiratory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21514422 NCBI chr 6:30,047,985...30,153,458
Ensembl chr 6:30,047,988...30,153,458
JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21514422 NCBI chr 5:51,454,249...52,115,853
Ensembl chr 5:51,454,250...51,567,726
JBrowse link
G Tfam transcription factor A, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:21514422 NCBI chr10:71,225,468...71,238,328
Ensembl chr10:71,225,464...71,238,280
JBrowse link
breast fibroadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt7b wingless-type MMTV integration site family, member 7B ISO RGD PMID:8168088 RGD:2291878 NCBI chr15:85,535,437...85,581,821
Ensembl chr15:85,535,437...85,582,473
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 chr10:8,722,217...8,945,608
Ensembl chr10:8,722,219...8,886,070
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 chr18:12,189,694...12,236,506
Ensembl chr18:12,189,692...12,236,400
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:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18446851 More... NCBI chr13:85,189,377...85,213,731
Ensembl chr13:85,189,408...85,223,469
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
RGD
PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18446851 More... RGD:734495 NCBI chr13:85,214,699...85,289,486
Ensembl chr13:85,214,780...85,289,130
JBrowse link
G Stambp STAM binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr 6:83,543,206...83,575,826
Ensembl chr 6:83,543,211...83,572,729
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 More... NCBI chr13:85,189,377...85,213,731
Ensembl chr13:85,189,408...85,223,469
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 More... NCBI chr13:85,214,699...85,289,486
Ensembl chr13:85,214,780...85,289,130
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 chr 5:137,350,109...137,374,522
Ensembl chr 5:137,350,109...137,378,669
JBrowse link
G Slc12a9 solute carrier family 12 (potassium/chloride transporters), member 9 ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2
ClinVar PMID:25741868 PMID:28687708 NCBI chr 5:137,314,558...137,340,070
Ensembl chr 5:137,314,558...137,333,597
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, subunit A, flavoprotein (Fp) ISO ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 More... NCBI chr13:74,322,255...74,350,240
Ensembl chr13:74,322,254...74,350,280
JBrowse link
G Sdhb succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 More... NCBI chr 4:140,961,271...140,979,198
Ensembl chr 4:140,961,203...140,979,193
JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 More... NCBI chr 1:171,129,157...171,150,640
Ensembl chr 1:171,127,165...171,150,603
JBrowse link
cavernous hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 cerebral cavernous malformation 2 ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:25741868 NCBI chr11:6,546,887...6,596,761
Ensembl chr11:6,546,887...6,596,744
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:10508515 PMID:10545614 PMID:11222804 PMID:12404106 PMID:23595507 More... NCBI chr 5:3,803,156...3,844,515
Ensembl chr 5:3,803,184...3,845,564
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 chr13:85,189,377...85,213,731
Ensembl chr13:85,189,408...85,223,469
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 chr13:85,214,699...85,289,486
Ensembl chr13:85,214,780...85,289,130
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:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chr 6:113,623,994...113,631,634
Ensembl chr 6:113,623,959...113,631,633
JBrowse link
cerebral cavernous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A kinase (PRKA) anchor protein (yotiao) 9 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 5:3,927,736...4,080,204
Ensembl chr 5:3,928,054...4,081,310
JBrowse link
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 5:3,689,999...3,803,124
Ensembl chr 5:3,690,000...3,802,925
JBrowse link
G Ccm2 cerebral cavernous malformation 2 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 chr11:6,546,887...6,596,761
Ensembl chr11:6,546,887...6,596,744
JBrowse link
G Cyp51 cytochrome P450, family 51 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 5:4,080,674...4,104,697
Ensembl chr 5:4,081,145...4,104,746
JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 5:147,561,604...147,726,438
Ensembl chr 5:147,561,604...147,726,011
JBrowse link
G Kdr kinase insert domain protein receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 5:75,932,827...75,979,072
Ensembl chr 5:75,932,827...75,978,458
JBrowse link
G Krit1 KRIT1, ankyrin repeat containing susceptibility ISO
IEA
ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:116860
ClinVar
CTD
RGD
MouseDO
PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 More... RGD:1598379, RGD:1358458 NCBI chr 5:3,803,156...3,844,515
Ensembl chr 5:3,803,184...3,845,564
JBrowse link
G Lrrd1 leucine rich repeats and death domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 5:3,845,173...3,866,596
Ensembl chr 5:3,845,173...3,866,596
JBrowse link
G Notch3 notch 3 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr17:32,120,820...32,166,896
Ensembl chr17:32,120,820...32,166,852
JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 More... NCBI chr 3:75,516,490...75,556,852
Ensembl chr 3:75,516,490...75,556,856
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Serpini1 serine (or cysteine) peptidase inhibitor, clade I, member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 3:75,557,493...75,642,523
Ensembl chr 3:75,557,547...75,643,495
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 More... NCBI chr 5:3,803,156...3,844,515
Ensembl chr 5:3,803,184...3,845,564
JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 cerebral cavernous malformation 2 ISO
IEA
ClinVar Annotator: match by term: Cerebral cavernous malformations 2
OMIM:603284
OMIM
ClinVar
MouseDO
PMID:2468908 PMID:14624391 PMID:14740320 PMID:15122722 PMID:16199547 More... NCBI chr11:6,546,887...6,596,761
Ensembl chr11:6,546,887...6,596,744
JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr11:6,597,814...6,606,059
Ensembl chr11:6,597,823...6,606,053
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
IEA
ClinVar Annotator: match by term: Cerebral cavernous malformations 3 OMIM
ClinVar
MouseDO
PMID:9536098 PMID:15543491 PMID:17576681 PMID:18035376 PMID:18060436 More... NCBI chr 3:75,516,490...75,556,852
Ensembl chr 3:75,516,490...75,556,856
JBrowse link
G Serpini1 serine (or cysteine) peptidase inhibitor, clade I, member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 3 ClinVar PMID:18060436 PMID:20623299 PMID:28492532 NCBI chr 3:75,557,493...75,642,523
Ensembl chr 3:75,557,547...75,643,495
JBrowse link
cervical squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific disease_progression ISO protein:increased expression:cervix squamous epithelium (human) RGD PMID:28109322 RGD:125097518 NCBI chr 3:89,714,469...89,753,455
Ensembl chr 3:89,715,022...89,753,446
JBrowse link
G Bax BCL2-associated X protein ISO protein:increased expression:uterine cervix RGD PMID:17694953 RGD:1643352 NCBI chr 7:45,461,695...45,466,903
Ensembl chr 7:45,461,697...45,466,898
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 9:7,818,226...7,837,131
Ensembl chr 9:7,818,227...7,837,064
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 chr11:86,058,136...86,201,215
Ensembl chr11:86,058,138...86,201,193
JBrowse link
G Ccl22 chemokine (C-C motif) ligand 22 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 8:94,745,684...94,751,388
Ensembl chr 8:94,745,590...94,751,699
JBrowse link
G Ccr4 chemokine (C-C motif) receptor 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 9:114,490,316...114,505,476
Ensembl chr 9:114,490,316...114,504,916
JBrowse link
G Cd82 CD82 antigen ISO protein:decreased expression:uterine cervix RGD PMID:15642213 RGD:2289399 NCBI chr 2:93,419,102...93,462,950
Ensembl chr 2:93,419,111...93,463,140
JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr18:61,105,572...61,131,139
Ensembl chr18:61,100,598...61,132,149
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO cervical squamous cell carcinoma RGD PMID:17306351 RGD:2289084 NCBI chr 2:126,034,658...126,091,185
Ensembl chr 2:126,034,658...126,091,185
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 chr 5:33,721,724...33,737,068
Ensembl chr 5:33,721,674...33,737,068
JBrowse link
G Fos FBJ osteosarcoma oncogene disease_progression ISO protein:increased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr12:85,473,890...85,477,274
Ensembl chr12:85,473,890...85,477,273
JBrowse link
G Fosl1 fos-like antigen 1 ISO protein:decreased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr19:5,447,698...5,455,938
Ensembl chr19:5,447,547...5,455,946
JBrowse link
G Foxp3 forkhead box P3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr  X:7,579,676...7,595,243
Ensembl chr  X:7,573,644...7,595,245
JBrowse link
G Mir21a microRNA 21a ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr11:86,584,067...86,584,158
Ensembl chr11:86,584,067...86,584,158
JBrowse link
G Pdpn podoplanin disease_progression ISO RGD PMID:16528371 RGD:2292237 NCBI chr 4:143,267,409...143,299,564
Ensembl chr 4:143,267,431...143,299,564
JBrowse link
G Smad3 SMAD family member 3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 9:63,646,766...63,757,994
Ensembl chr 9:63,646,767...63,757,994
JBrowse link
G Timp2 tissue inhibitor of metalloproteinase 2 ISO protein:decreased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr11:118,301,061...118,355,411
Ensembl chr11:118,301,069...118,355,740
JBrowse link
G Tmbim6 transmembrane BAX inhibitor motif containing 6 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15337562 RGD:2291959 NCBI chr15:99,392,947...99,410,049
Ensembl chr15:99,392,882...99,410,049
JBrowse link
G Tnfrsf4 tumor necrosis factor receptor superfamily, member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 4:156,013,595...156,016,613
Ensembl chr 4:156,013,843...156,016,612
JBrowse link
G Tnfsf4 tumor necrosis factor (ligand) superfamily, member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 1:161,395,438...161,418,206
Ensembl chr 1:161,395,409...161,418,410
JBrowse link
G Trp53 transformation related protein 53 disease_progression ISO RGD PMID:17969407 RGD:2298526 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Tymp thymidine phosphorylase disease_progression ISO RGD PMID:16803522 RGD:2293719 NCBI chr15:89,371,631...89,377,036
Ensembl chr15:89,371,931...89,377,039
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 chr16:16,983,382...17,047,453
Ensembl chr16:16,983,382...17,047,453
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 chr11:116,021,961...116,026,039
Ensembl chr11:116,021,912...116,027,962
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:9745456 PMID:10523019 More... NCBI chr 9:110,722,085...110,747,145
Ensembl chr 9:110,722,085...110,747,145
JBrowse link
chondroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 PMID:25895133 NCBI chr 1:65,158,616...65,186,479
Ensembl chr 1:65,158,616...65,186,500
JBrowse link
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 PMID:25895133 NCBI chr 7:80,094,845...80,118,608
Ensembl chr 7:80,094,846...80,115,392
JBrowse link
G Ihh Indian hedgehog IEP RGD PMID:26091072 RGD:12910968 NCBI chr 1:74,945,315...74,951,672
Ensembl chr 1:74,945,315...74,951,672
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 chr 5:121,130,533...121,191,397
Ensembl chr 5:121,130,533...121,191,397
JBrowse link
G Smo smoothened, frizzled class receptor treatment IMP RGD PMID:26091072 RGD:12910968 NCBI chr 6:29,735,497...29,761,366
Ensembl chr 6:29,735,503...29,761,365
JBrowse link
choroid plexus papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp53 transformation related protein 53 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 More... NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
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 IEA OMIM:612242 MouseDO NCBI chr14:34,411,061...34,503,336
Ensembl chr14:34,410,734...34,503,341
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:15608678 PMID:15647370 More... NCBI chr 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
JBrowse link
CLOVES syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna11 guanine nucleotide binding protein, alpha 11 ISO ClinVar Annotator: match by term: CLOVE SYNDROME ClinVar PMID:25741868 PMID:27476652 NCBI chr10:81,528,724...81,545,162
Ensembl chr10:81,528,724...81,545,190
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO
IEA
ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES
ClinVar Annotator: match by term: CLOVE SYNDROME
ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
OMIM:612918
DNA: missense mutations: exon :p.H1047R, p.H1047L
OMIM
ClinVar
MouseDO
RGD
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... RGD:13207409 NCBI chr 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
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 chr19:3,851,585...3,894,369
Ensembl chr19:3,851,773...3,894,369
JBrowse link
G Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 IMP RGD PMID:26194191 RGD:11086893 NCBI chr11:95,957,163...96,005,944
Ensembl chr11:95,957,163...96,005,940
JBrowse link
G Rac1 Rac family small GTPase 1 ISO RGD PMID:12865273 RGD:13432048 NCBI chr 5:143,505,481...143,528,031
Ensembl chr 5:143,503,634...143,528,036
JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO mRNA:decreased expression:colon (human) RGD PMID:29875879 RGD:150429665 NCBI chr 3:133,463,677...133,545,136
Ensembl chr 3:133,463,679...133,545,139
JBrowse link
colorectal adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: Colorectal adenoma ClinVar PMID:2472832 PMID:10811618 PMID:11257105 PMID:11904335 PMID:16454848 More... NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Birc7 baculoviral IAP repeat-containing 7 (livin) ISO RGD PMID:21122381 RGD:13217408 NCBI chr 2:180,928,609...180,934,010
Ensembl chr 2:180,929,023...180,934,010
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression ISO protein:increased expression:large intestine RGD PMID:30214616 RGD:126779593 NCBI chr 6:47,530,274...47,595,270
Ensembl chr 6:47,530,139...47,595,341
JBrowse link
G F5 coagulation factor V ISO protein:increased expression:serum RGD PMID:30971492 RGD:40907058 NCBI chr 1:164,151,835...164,220,277
Ensembl chr 1:164,151,838...164,220,277
JBrowse link
G Fos FBJ osteosarcoma oncogene ISO RGD PMID:8264230 RGD:13210753 NCBI chr12:85,473,890...85,477,274
Ensembl chr12:85,473,890...85,477,273
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO DNA:deletion:cds (human) RGD PMID:20375710 RGD:7495820 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G Gstp1 glutathione S-transferase, pi 1 ISO DNA:SNP: :p.A114V (human) RGD PMID:20375710 RGD:7495820 NCBI chr19:4,035,411...4,037,912
Ensembl chr19:4,035,407...4,037,985
JBrowse link
G Jun jun proto-oncogene ISO RGD PMID:8264230 RGD:13210753 NCBI chr 4:95,049,036...95,052,222
Ensembl chr 4:95,049,034...95,052,222
JBrowse link
G Map2k4 mitogen-activated protein kinase kinase 4 ISO protein:decreased expression:colorectum (human) RGD PMID:28423721 RGD:150429743 NCBI chr11:65,688,244...65,788,359
Ensembl chr11:65,688,243...65,788,297
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:21122381 PMID:23082052 RGD:13217408, RGD:13217413 NCBI chr14:33,377,898...33,447,353
Ensembl chr14:33,377,898...33,447,158
JBrowse link
G Mir224 microRNA 224 ISO mRNA:increased expression:colorectal mucosa: RGD PMID:25919696 RGD:14398749 NCBI chr  X:72,261,031...72,261,112
Ensembl chr  X:72,261,031...72,261,112
JBrowse link
G Myd88 myeloid differentiation primary response gene 88 ameliorates IMP RGD PMID:30063920 RGD:150519915 NCBI chr 9:119,335,934...119,340,018
Ensembl chr 9:119,335,934...119,341,411
JBrowse link
G Ptch1 patched 1 ISO RGD PMID:24612059 RGD:150523840 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
JBrowse link
G Raf1 v-raf-leukemia viral oncogene 1 ISO RGD PMID:21122381 RGD:13217408 NCBI chr 6:115,618,569...115,676,635
Ensembl chr 6:115,618,067...115,676,635
JBrowse link
G Smad4 SMAD family member 4 ISO mRNA:increased expression:mucosa RGD PMID:11480790 RGD:21066339 NCBI chr18:73,634,790...73,703,791
Ensembl chr18:73,639,009...73,703,780
JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO protein:increased expression:serum, colorectal mucosa, epithelial cell RGD PMID:23082052 RGD:13217413 NCBI chr 6:125,349,723...125,362,483
Ensembl chr 6:125,349,362...125,362,484
JBrowse link
conjunctival squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam3 a disintegrin and metallopeptidase domain 3 (cyritestin) ISO DNA, mRNA:amplification, increase expression RGD PMID:25491297 RGD:13831354 NCBI chr 8:24,677,232...24,726,377
Ensembl chr 8:24,677,225...24,725,852
JBrowse link
corpus callosum lipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Lipoma of corpus callosum ClinVar PMID:25741868 NCBI chr 9:45,906,447...45,932,107
Ensembl chr 9:45,906,497...45,929,726
JBrowse link
cystadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase A, fructose-bisphosphate ISO protein:increased expression:pancreas RGD PMID:19077459 RGD:2325696 NCBI chr 7:126,795,234...126,800,994
Ensembl chr 7:126,795,234...126,800,751
Ensembl chr 7:126,795,234...126,800,751
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 IEA OMIM:166950 MouseDO NCBI chr10:42,181,845...42,276,695
Ensembl chr10:42,181,841...42,276,755
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 gene family 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD
ClinVar
PMID:9536098 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 More... NCBI chr11:117,765,985...117,782,193
Ensembl chr11:117,765,988...117,782,198
JBrowse link
G Tmc8 transmembrane channel-like gene family 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 More... NCBI chr11:117,781,584...117,793,137
Ensembl chr11:117,782,076...117,793,110
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 gene family 6 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar
OMIM
PMID:9536098 PMID:12426567 PMID:15042430 PMID:17139267 PMID:17576681 More... NCBI chr11:117,765,985...117,782,193
Ensembl chr11:117,765,988...117,782,198
JBrowse link
G Tmc8 transmembrane channel-like gene family 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532 NCBI chr11:117,781,584...117,793,137
Ensembl chr11:117,782,076...117,793,110
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 gene family 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS 2
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
ClinVar
OMIM
PMID:10084299 PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532 More... NCBI chr11:117,781,584...117,793,137
Ensembl chr11:117,782,076...117,793,110
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 (calmyrin) ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 ClinVar
OMIM
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28646613 More... NCBI chr 7:80,227,156...80,232,805
Ensembl chr 7:80,227,147...80,232,813
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 chr 5:65,860,742...65,896,700
Ensembl chr 5:65,861,213...65,896,700
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 3:7,572,028...7,613,760
Ensembl chr 3:7,569,994...7,613,760
JBrowse link
Epithelioid Hemangioendothelioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifna2 interferon alpha 2 ISO CTD Direct Evidence: therapeutic CTD PMID:15982392 NCBI chr 4:88,683,207...88,683,779
Ensembl chr 4:88,682,881...88,683,912
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chr  X:141,475,370...141,689,236
Ensembl chr  X:141,475,385...141,689,234
JBrowse link
G Col4a6 collagen, type IV, alpha 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chr  X:141,165,403...141,474,095
Ensembl chr  X:141,165,403...141,474,076
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, sub-family C (CFTR/MRP), member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21206495 NCBI chr19:43,782,308...43,838,332
Ensembl chr19:43,782,192...43,840,740
JBrowse link
G Adcyap1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:93,198,245...93,206,541
Ensembl chr17:93,199,017...93,206,537
JBrowse link
G Ajuba ajuba LIM protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr14:54,567,469...54,577,661
Ensembl chr14:54,567,472...54,577,558
JBrowse link
G Aldh2 aldehyde dehydrogenase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:16639733 PMID:22960999 NCBI chr 5:121,566,027...121,593,824
Ensembl chr 5:121,566,027...121,593,824
JBrowse link
G Anxa1 annexin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr19:20,373,434...20,390,671
Ensembl chr19:20,373,428...20,390,944
JBrowse link
G Atm ataxia telangiectasia mutated disease_progression ISO Smoke Inhalation Injury; mRNA:increased expression:esophagus (human) RGD PMID:17019709 RGD:150340713 NCBI chr 9:53,437,122...53,536,828
Ensembl chr 9:53,439,149...53,536,740
JBrowse link
G Atp1b2 ATPase, Na+/K+ transporting, beta 2 polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr11:69,599,728...69,605,978
Ensembl chr11:69,599,736...69,605,942
JBrowse link
G Axin1 axin 1 disease_progression ISO protein:decreased expression:esophagus (human) RGD PMID:12771989 RGD:150530473 NCBI chr17:26,131,217...26,195,811
Ensembl chr17:26,138,688...26,195,811
JBrowse link
G Azin1 antizyme inhibitor 1 ISO RGD PMID:24302582 RGD:14700707 NCBI chr15:38,487,430...38,519,294
Ensembl chr15:38,487,427...38,519,266
JBrowse link
G B2m beta-2 microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:122,147,687...122,153,082
Ensembl chr 2:122,147,686...122,153,083
JBrowse link
G Blvrb biliverdin reductase B (flavin reductase (NADPH)) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 7:27,447,978...27,465,981
Ensembl chr 7:27,447,978...27,466,144
JBrowse link
G Bmi1 Bmi1 polycomb ring finger oncogene ISO RGD PMID:21165554 RGD:126781701 NCBI chr 2:18,677,018...18,686,629
Ensembl chr 2:18,677,018...18,686,629
JBrowse link
G Bmp6 bone morphogenetic protein 6 ISO protein:increased expression:esophagus RGD PMID:22364398 RGD:7242413 NCBI chr13:38,345,716...38,500,314
Ensembl chr13:38,345,107...38,500,302
JBrowse link
G Brca1 breast cancer 1, early onset ISO DNA:SNP: :rs799917 (human) RGD PMID:23749772 RGD:126925960 NCBI chr11:101,488,761...101,551,955
Ensembl chr11:101,488,764...101,551,955
JBrowse link
G Brca2 breast cancer 2, early onset ISO DNA:nonsense mutation: :p.K3326X (human) RGD PMID:21279724 RGD:11344913 NCBI chr 5:150,522,297...150,570,147
Ensembl chr 5:150,522,630...150,570,329
JBrowse link
G Bst2 bone marrow stromal cell antigen 2 disease_progression ISO RGD PMID:26832883 RGD:14398496 NCBI chr 8:71,534,255...71,537,472
Ensembl chr 8:71,534,255...71,537,456
JBrowse link
G Bub1b BUB1B, mitotic checkpoint serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr 2:118,598,202...118,641,592
Ensembl chr 2:118,598,211...118,641,591
JBrowse link
G Calr calreticulin ameliorates ISO CTD Direct Evidence: marker/mechanism
human cells in a mouse model
CTD
RGD
PMID:21517111 PMID:19684620 PMID:23814025 RGD:150521703, RGD:150521679 NCBI chr 8:84,842,088...84,846,931
Ensembl chr 8:84,841,850...84,846,934
JBrowse link
G Capza1 capping protein (actin filament) muscle Z-line, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 3:104,822,781...104,864,505
Ensembl chr 3:104,822,779...104,864,505
JBrowse link
G Car1 carbonic anhydrase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 3:14,766,214...14,808,365
Ensembl chr 3:14,766,216...14,808,368
JBrowse link
G Car2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 3:14,886,269...14,900,770
Ensembl chr 3:14,886,273...14,900,770
JBrowse link
G Cbx8 chromobox 8 severity ISO mRNA:increased expression:esophagus: RGD PMID:25197352 RGD:9587436 NCBI chr11:119,036,303...119,040,913
Ensembl chr11:119,036,305...119,040,969
JBrowse link
G Cchcr1 coiled-coil alpha-helical rod protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr17:35,517,049...35,531,015
Ensembl chr17:35,517,100...35,531,015
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 7:144,929,931...144,939,831
Ensembl chr 7:144,929,931...144,939,925
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A (P21) ISO CTD Direct Evidence: therapeutic CTD PMID:15375580 NCBI chr17:29,090,979...29,100,722
Ensembl chr17:29,090,976...29,100,727
JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 4:89,274,473...89,294,619
Ensembl chr 4:89,274,471...89,294,653
JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO DNA:SNPs: :rs615552, rs573687 (human) RGD PMID:23361049 RGD:7248756 NCBI chr 4:89,306,289...89,311,032
Ensembl chr 4:89,306,299...89,311,039
JBrowse link
G Cfl1 cofilin 1, non-muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr19:5,490,455...5,494,031
Ensembl chr19:5,490,455...5,495,201
JBrowse link
G Chrna5 cholinergic receptor, nicotinic, alpha polypeptide 5 susceptibility ISO DNA:SNP: :rs667282(human) RGD PMID:23844051 RGD:150524358 NCBI chr 9:54,980,827...55,011,420
Ensembl chr 9:54,980,880...55,007,779
JBrowse link
G Clic1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:35,050,243...35,058,719
Ensembl chr17:35,049,966...35,058,749
JBrowse link
G Clptm1l CLPTM1-like susceptibility
no_association
ISO DNA:SNP: :rs451360(human)
DNA:SNP: :rs401681(human)
mRNA:increased expression:esophagus
RGD PMID:26716642 PMID:24386361 PMID:25480402 PMID:25007268 RGD:11572962, RGD:150537098, RGD:150530497, RGD:150530488 NCBI chr13:73,604,002...73,620,639
Ensembl chr13:73,604,006...73,620,605
JBrowse link
G Crabp1 cellular retinoic acid binding protein I ISO CTD Direct Evidence: marker/mechanism CTD PMID:17438526 NCBI chr 9:54,764,748...54,773,110
Ensembl chr 9:54,764,748...54,773,110
JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr16:4,081,334...4,213,957
Ensembl chr16:4,081,328...4,213,997
JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO mRNA:decreased expression:esophagus squamous epithelium (human) RGD PMID:32038997 RGD:150524298 NCBI chr18:61,105,572...61,131,139
Ensembl chr18:61,100,598...61,132,149
JBrowse link
G Cstb cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:78,425,670...78,427,622
Ensembl chr10:78,425,669...78,427,622
JBrowse link
G Ctnnb1 catenin (cadherin associated protein), beta 1 ISO ClinVar Annotator: match by term: Esophageal Squamous Cell Carcinoma ClinVar PMID:25157968 PMID:26619011 NCBI chr 9:120,933,400...120,960,507
Ensembl chr 9:120,929,216...120,960,507
JBrowse link
G Cxcl15 chemokine (C-X-C motif) ligand 15 severity ISO mRNA:increased expression:esophagus (human) RGD PMID:31423201 RGD:150520019 NCBI chr 5:90,794,534...90,803,067
Ensembl chr 5:90,794,534...90,803,067
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:11860825 RGD:14700943 NCBI chr 9:57,687,928...57,703,824
Ensembl chr 9:57,687,928...57,703,824
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO protein:increased expression:esophagus (rat) RGD PMID:18618592 RGD:7829715 NCBI chr17:79,706,940...79,715,061
Ensembl chr17:79,701,537...79,715,061
JBrowse link
G Cyp26b1 cytochrome P450, family 26, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr 6:84,571,414...84,593,908
Ensembl chr 6:84,571,414...84,593,908
JBrowse link
G Cyp2a5 cytochrome P450, family 2, subfamily a, polypeptide 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11241319 NCBI chr 7:26,835,339...26,843,264
Ensembl chr 7:26,835,305...26,843,548
JBrowse link
G Dcc deleted in colorectal carcinoma ISO DNA:deletions:multiple (human) RGD PMID:8187090 RGD:734879 NCBI chr18:71,253,613...72,351,228
Ensembl chr18:71,253,634...72,351,069
JBrowse link
G Dido1 death inducer-obliterator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr 2:180,657,963...180,710,068
Ensembl chr 2:180,657,964...180,709,999
JBrowse link
G Dnmt3b DNA methyltransferase 3B disease_progression ISO protein:increased expression:nucleus: RGD PMID:22213175 RGD:9589085 NCBI chr 2:153,649,411...153,687,730
Ensembl chr 2:153,649,450...153,687,730
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
RGD
PMID:21947696 PMID:23485129 PMID:25157968 PMID:10385363 RGD:5131486 NCBI chr11:16,752,203...16,913,907
Ensembl chr11:16,752,203...16,918,158
JBrowse link
G Ehmt1 euchromatic histone 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 2:24,790,769...24,919,643
Ensembl chr 2:24,789,928...24,919,614
JBrowse link
G Ehmt2 euchromatic histone lysine N-methyltransferase 2 disease_progression ISO protein:increased expression:esophagus mucosa: RGD PMID:24805087 RGD:9590071 NCBI chr17:34,898,463...34,914,073
Ensembl chr17:34,898,469...34,914,052
JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17965222 PMID:25151357 NCBI chr15:81,586,209...81,652,077
Ensembl chr15:81,585,351...81,652,077
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 susceptibility
disease_progression
ISO DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human)
protein:altered localization:nucleus
RGD PMID:24916311 PMID:18000820 RGD:126781764, RGD:126781765 NCBI chr 1:68,031,884...69,108,576
Ensembl chr 1:68,032,186...69,108,059
JBrowse link
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 treatment ISO RGD PMID:23263828 RGD:11252162 NCBI chr 7:19,344,067...19,356,524
Ensembl chr 7:19,344,778...19,356,524
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression ISO RGD PMID:25613619 PMID:21165554 RGD:126781697, RGD:126781701 NCBI chr 6:47,530,274...47,595,270
Ensembl chr 6:47,530,139...47,595,341
JBrowse link
G Fanca Fanconi anemia, complementation group A ISO DNA:missense mutation: :p.S858R (human) RGD PMID:21279724 RGD:11344913 NCBI chr 8:123,266,294...123,318,651
Ensembl chr 8:123,268,300...123,318,576
JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr11:120,805,958...120,825,166
Ensembl chr11:120,805,846...120,824,547
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 8:44,933,100...45,052,257
Ensembl chr 8:44,935,447...45,052,257
JBrowse link
G Fat2 FAT atypical cadherin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr11:55,250,609...55,337,505
Ensembl chr11:55,250,609...55,336,564
JBrowse link
G Fat3 FAT atypical cadherin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 9:15,910,189...16,502,681
Ensembl chr 9:15,910,189...16,501,285
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 3:38,884,667...39,011,992
Ensembl chr 3:38,886,940...39,011,985
JBrowse link
G Fbxw7 F-box and WD-40 domain protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 3:84,814,990...84,979,198
Ensembl chr 3:84,815,268...84,979,198
JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 treatment ISO RGD PMID:25989802 RGD:150520041 NCBI chr13:55,152,818...55,168,759
Ensembl chr13:55,152,640...55,168,759
JBrowse link
G Fkbp1a FK506 binding protein 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:151,542,483...151,561,691
Ensembl chr 2:151,542,483...151,561,692
JBrowse link
G Gdi2 guanosine diphosphate (GDP) dissociation inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr13:3,538,075...3,566,261
Ensembl chr13:3,538,063...3,567,871
JBrowse link
G Glo1 glyoxalase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:30,592,861...30,612,659
Ensembl chr17:30,584,936...30,626,871
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 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G Gsto1 glutathione S-transferase omega 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr19:47,854,973...47,864,790
Ensembl chr19:47,854,970...47,864,790
JBrowse link
G Gstp1 glutathione S-transferase, pi 1 ISO DNA:polymorphism: :p.I105V (human) RGD PMID:17916905 RGD:14700982 NCBI chr19:4,035,411...4,037,912
Ensembl chr19:4,035,407...4,037,985
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17173682 PMID:25432134 PMID:17916905 RGD:14700948, RGD:14700982 NCBI chr10:75,783,813...75,798,584
Ensembl chr10:75,783,813...75,798,584
JBrowse link
G H19 H19, imprinted maternally expressed transcript ISO CTD Direct Evidence: marker/mechanism CTD PMID:32739445 NCBI chr 7:142,575,530...142,578,146
Ensembl chr 7:142,575,529...142,578,143
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17201171 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
G Hmgb1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 5:149,046,702...149,053,057
Ensembl chr 5:149,046,702...149,184,489
JBrowse link
G Hmgn5 high-mobility group nucleosome binding domain 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28914995 NCBI chr  X:109,004,537...109,013,380
Ensembl chr  X:109,004,534...109,013,404
JBrowse link
G Hoxb7 homeobox B7 severity ISO protein:increased expression:esophageal mucosa (human) RGD PMID:26076456 RGD:10402177 NCBI chr11:96,285,604...96,290,163
Ensembl chr11:96,286,623...96,290,162
JBrowse link
G Hspa5 heat shock protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:34,772,090...34,776,529
Ensembl chr 2:34,771,970...34,777,547
JBrowse link
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial severity ISO human cells in mouse model RGD PMID:32367071 RGD:149735568 NCBI chr 7:80,094,845...80,118,608
Ensembl chr 7:80,094,846...80,115,392
JBrowse link
G Jak2 Janus kinase 2 severity ISO protein:increased phosphorylation:esophagus squamous epithelium (human) RGD PMID:32158193 RGD:127285669 NCBI chr19:29,251,803...29,313,095
Ensembl chr19:29,251,828...29,313,080
JBrowse link
G Kat2b K(lysine) acetyltransferase 2B ISO mRNA:decreased expression:esophagus (human) RGD PMID:19525977 RGD:9590307 NCBI chr17:53,566,774...53,672,721
Ensembl chr17:53,566,861...53,672,720
JBrowse link
G Kdm4c lysine (K)-specific 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 4:74,242,497...74,405,864
Ensembl chr 4:74,242,497...74,405,860
JBrowse link
G Kdm5b lysine (K)-specific demethylase 5B severity ISO protein:increased expression:esophageal mucosa, cytoplasm (human) RGD PMID:22534467 RGD:9587776 NCBI chr 1:134,560,178...134,632,878
Ensembl chr 1:134,560,171...134,635,285
JBrowse link
G Kdm6a lysine (K)-specific demethylase 6A ameliorates ISO DNA:mutations:multiple (human)
mRNA:increased expression:esophagus (human)
protein:increased expression:esophagus (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25151357 PMID:25151357 PMID:31804468 PMID:29351209 RGD:9588233, RGD:150429742, RGD:150429739 NCBI chr  X:18,160,862...18,279,936
Ensembl chr  X:18,162,575...18,279,936
JBrowse link
G Kmt2c lysine (K)-specific methyltransferase 2C ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25151357 PMID:25151357 RGD:9588233 NCBI chr 5:25,271,795...25,498,855
Ensembl chr 5:25,271,798...25,498,783
JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D ISO DNA:mutations:multiple (human)
mRNA:increased expression:esophagus
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25151357 PMID:25151357 PMID:29532228 RGD:9588233, RGD:150521712 NCBI chr15:98,831,669...98,874,077
Ensembl chr15:98,831,669...98,871,204
JBrowse link
G Krt13 keratin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr11:100,117,327...100,121,566
Ensembl chr11:100,117,327...100,121,566
JBrowse link
G Krt14 keratin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr11:100,203,162...100,207,510
Ensembl chr11:100,203,162...100,207,548
JBrowse link
G Krt16 keratin 16 ISO RGD PMID:8950218 RGD:633113 NCBI chr11:100,246,091...100,248,902
Ensembl chr11:100,246,091...100,248,902
JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr11:100,256,215...100,261,029
Ensembl chr11:100,256,217...100,261,029
JBrowse link
G Krt19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr11:100,140,810...100,145,926
Ensembl chr11:100,140,810...100,148,665
JBrowse link
G Loxl2 lysyl oxidase-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24716982 NCBI chr14:69,608,692...69,695,834
Ensembl chr14:69,609,068...69,695,834
JBrowse link
G Lta lymphotoxin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr17:35,203,165...35,205,578
Ensembl chr17:35,203,165...35,205,351
JBrowse link
G Lzts1 leucine zipper, putative tumor suppressor 1 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar PMID:10097140 NCBI chr 8:69,132,659...69,184,249
Ensembl chr 8:69,132,669...69,184,225
JBrowse link
G Mad2l1 MAD2 mitotic arrest deficient-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr 6:66,535,221...66,541,107
Ensembl chr 6:66,535,390...66,547,220
JBrowse link
G Malat1 metastasis associated lung adenocarcinoma transcript 1 (non-coding RNA) ISO CTD Direct Evidence: marker/mechanism CTD PMID:25538231 NCBI chr19:5,795,690...5,802,672
Ensembl chr19:5,795,690...5,802,672
JBrowse link
G Map3k1 mitogen-activated protein kinase kinase kinase 1 sexual_dimorphism ISO DNA:missense mutation, SNP:CDS, exon 14, 3'-UTR: (rs702689,rs702688) (human) RGD PMID:32753933 RGD:150573717 NCBI chr13:111,746,428...111,818,269
Ensembl chr13:111,746,428...111,808,993
JBrowse link
G Mbd4 methyl-CpG binding domain protein 4 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 6:115,840,697...115,853,400
Ensembl chr 6:115,840,697...115,853,371
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA, protein:hypermethylation, decreased expression:promoter, esophagus
CTD
RGD
PMID:25520135 PMID:21674174 RGD:126790574 NCBI chr 7:136,894,463...137,128,193
Ensembl chr 7:136,894,614...137,130,266
JBrowse link
G Mir217 microRNA 217 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25538231 NCBI chr11:28,763,728...28,763,835
Ensembl chr11:28,763,728...28,763,835
JBrowse link
G Mir423 microRNA 423 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24205249 NCBI chr11:77,078,064...77,078,172
Ensembl chr11:77,078,064...77,078,172
JBrowse link
G Mir494 microRNA 494 ISO mRNA:decreased expression:esophagus RGD PMID:25480402 RGD:150530497 NCBI chr12:109,715,318...109,715,402
Ensembl chr12:109,715,318...109,715,402
JBrowse link
G Mlh1 mutL homolog 1 disease_progression ISO DNA, protein:hypermethylation, decreased expression:promoter, esophagus RGD PMID:21674174 RGD:126790574 NCBI chr 9:111,228,228...111,271,786
Ensembl chr 9:111,228,228...111,271,791
JBrowse link
G Msh2 mutS homolog 2 disease_progression ISO DNA, protein:hypermethylation, decreased expression:promoter, esophagus
DNA, protein:hypermethylation, decreased expression:esophagus
RGD PMID:22265839 PMID:21674174 PMID:24366688 RGD:126790560, RGD:126790574, RGD:126790573 NCBI chr17:87,672,532...87,723,713
Ensembl chr17:87,672,330...87,723,713
JBrowse link
G Msx3 msh homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr 7:140,046,157...140,049,088
Ensembl chr 7:140,046,157...140,049,089
JBrowse link
G Mt1 metallothionein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr 8:94,178,883...94,180,327
Ensembl chr 8:94,179,082...94,180,327
JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 2:75,675,513...75,704,663
Ensembl chr 2:75,675,513...75,704,641
JBrowse link
G Notch1 notch 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 2:26,457,902...26,503,822
Ensembl chr 2:26,457,903...26,516,663
JBrowse link
G Notch2 notch 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 3:98,013,538...98,150,367
Ensembl chr 3:98,013,527...98,150,361
JBrowse link
G Notch3 notch 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr17:32,120,820...32,166,896
Ensembl chr17:32,120,820...32,166,852
JBrowse link
G Pfn1 profilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr11:70,651,844...70,656,799
Ensembl chr11:70,651,850...70,654,644
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729852 PMID:20729853 NCBI chr19:38,481,034...38,785,105
Ensembl chr19:38,481,109...38,785,030
JBrowse link
G Prdx1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 4:116,685,599...116,700,000
Ensembl chr 4:116,685,544...116,700,822
JBrowse link
G Psmb9 proteasome (prosome, macropain) subunit, beta type 9 (large multifunctional peptidase 2) disease_progression ISO RGD PMID:19492245 RGD:6482249 NCBI chr17:34,182,030...34,187,330
Ensembl chr17:34,181,987...34,187,764
JBrowse link
G Psme1 proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr14:55,578,494...55,581,527
Ensembl chr14:55,578,123...55,581,529
JBrowse link
G Psme2 proteasome (prosome, macropain) activator subunit 2 (PA28 beta) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr14:55,587,440...55,591,101
Ensembl chr14:55,587,441...55,591,113
JBrowse link
G Ptch1 patched 1 disease_progression ISO RGD PMID:16475698 RGD:150523841 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15756444 PMID:16543248 PMID:18197933 NCBI chr 1:150,100,031...150,108,234
Ensembl chr 1:150,100,031...150,108,227
JBrowse link
G Ptprt protein tyrosine phosphatase, receptor type, T susceptibility ISO DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human) RGD PMID:25967969 RGD:150520191 NCBI chr 2:161,521,988...162,661,147
Ensembl chr 2:161,521,990...162,661,147
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
G Rnf6 ring finger protein (C3H2C3 type) 6 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar PMID:12154016 NCBI chr 5:146,209,193...146,221,457
Ensembl chr 5:146,209,192...146,221,555
JBrowse link
G Runx1 runt related transcription factor 1 ISO DNA:SNP: :rs2014300 (human) RGD PMID:30666517 RGD:126775149 NCBI chr16:92,601,466...92,826,074
Ensembl chr16:92,601,466...92,826,149
JBrowse link
G Runx2 runt related transcription factor 2 ISO mRNA:increased expression:esophagus mucosa RGD PMID:18500170 RGD:126779568 NCBI chr17:44,495,987...44,814,797
Ensembl chr17:44,495,987...44,814,797
JBrowse link
G Runx3 runt related transcription factor 3 disease_progression ISO mRNA:decreased expression:esophagus mucosa RGD PMID:18500170 RGD:126779568 NCBI chr 4:135,120,645...135,177,990
Ensembl chr 4:135,120,652...135,177,990
JBrowse link
G Sall4 spalt like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr 2:168,748,332...168,767,201
Ensembl chr 2:168,748,332...168,767,943
JBrowse link
G Serpinb3d serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3D ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:107,078,163...107,083,480
Ensembl chr 1:107,078,167...107,083,506
JBrowse link
G Sfn stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 4:133,600,556...133,602,168
Ensembl chr 4:133,600,556...133,602,168
JBrowse link
G Slc39a6 solute carrier family 39 (metal ion transporter), member 6 ISO CTD Direct Evidence: therapeutic CTD PMID:23644492 NCBI chr18:24,579,881...24,603,817
Ensembl chr18:24,579,881...24,603,817
JBrowse link
G Slc52a3 solute carrier protein family 52, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729853 NCBI chr 2:151,996,511...152,009,258
Ensembl chr 2:151,996,511...152,009,258
JBrowse link
G Socs1 suppressor of cytokine signaling 1 severity
treatment
ISO
IDA
mRNA:decreased expression:esophagus RGD PMID:21385099 PMID:31728180 PMID:28233302 RGD:150573691, RGD:150573815, RGD:150573812 NCBI chr16:10,783,808...10,785,536
Ensembl chr16:10,782,240...10,785,536
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:18167182 PMID:21517111 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Sox2 SRY (sex determining region Y)-box 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19801978 NCBI chr 3:34,649,995...34,652,461
Ensembl chr 3:34,650,405...34,652,461
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr18:35,733,678...35,740,554
Ensembl chr18:35,733,679...35,740,554
JBrowse link
G Sult1a1 sulfotransferase family 1A, phenol-preferring, member 1 ISO DNA:SNP:exon:p.R213H, 638G>A (human) RGD PMID:12455060 RGD:1581448 NCBI chr 7:126,672,865...126,690,443
Ensembl chr 7:126,672,865...126,676,432
JBrowse link
G Tagln transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:45,929,628...45,936,058
Ensembl chr 9:45,929,619...45,936,058
JBrowse link
G Tap1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) ISO protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr17:34,187,556...34,197,225
Ensembl chr17:34,187,553...34,197,225
JBrowse link
G Tap2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) ISO protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr17:34,204,479...34,216,321
Ensembl chr17:34,203,527...34,216,321
JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr11:3,917,077...3,932,078
Ensembl chr11:3,917,192...3,932,159
JBrowse link
G Tert telomerase reverse transcriptase susceptibility
no_association
ISO DNA:SNPs: : rs2853691,rs2736100(human)
DNA:SNP: :rs2736098(human)
RGD PMID:26716642 PMID:25007268 RGD:11572962, RGD:150530488 NCBI chr13:73,626,911...73,649,843
Ensembl chr13:73,626,911...73,649,843
JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 severity ISO mRNA:decreased expression:esophagus squamous epithelium (human)
associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human)
DNA:mutations
RGD PMID:26093090 PMID:27050164 PMID:26873401 RGD:11528815, RGD:150429668, RGD:150429656 NCBI chr 3:133,463,677...133,545,136
Ensembl chr 3:133,463,679...133,545,139
JBrowse link
G Tet3 tet methylcytosine dioxygenase 3 ISO mRNA:decreased expression:esophagus squamous epithelium (human) RGD PMID:27050164 RGD:150429668 NCBI chr 6:83,362,373...83,457,208
Ensembl chr 6:83,362,373...83,459,084
JBrowse link
G Tnfaip8 tumor necrosis factor, alpha-induced protein 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21969086 NCBI chr18:49,979,427...50,093,229
Ensembl chr18:49,979,427...50,107,173
JBrowse link
G Tnxb tenascin XB ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr17:34,660,453...34,719,815
Ensembl chr17:34,660,457...34,719,815
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 6:124,810,586...124,814,158
Ensembl chr 6:124,810,586...124,814,296
JBrowse link
G Tpm1 tropomyosin 1, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:67,022,590...67,049,672
Ensembl chr 9:67,022,590...67,049,406
JBrowse link
G Tpm2 tropomyosin 2, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 4:43,513,726...43,523,583
Ensembl chr 4:43,514,711...43,523,765
JBrowse link
G Trp53 transformation related protein 53 ISO
EXP
DNA:misssense mutation: :p.R72P (rs1042522) (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16543248 PMID:25151357 PMID:28789369 RGD:14995932 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Txndc17 thioredoxin domain containing 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr11:72,207,554...72,210,487
Ensembl chr11:72,207,547...72,210,015
JBrowse link
G Tymp thymidine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11641616 NCBI chr15:89,371,631...89,377,036
Ensembl chr15:89,371,931...89,377,039
JBrowse link
G Wrap53 WD repeat containing, antisense to Trp53 disease_progression ISO RGD PMID:24626331 RGD:21081532 NCBI chr11:69,561,754...69,580,250
Ensembl chr11:69,561,758...69,580,255
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
RGD
PMID:11956080 PMID:25526675 PMID:11956080 RGD:1599874 NCBI chr 8:114,439,635...115,352,712
Ensembl chr 8:114,439,655...115,352,708
JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 treatment ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs:exon 6, exon 9, exon 10:multiple (human)
CTD
RGD
PMID:16639733 PMID:27123143 PMID:28356949 RGD:150530634, RGD:150530505 NCBI chr 7:24,546,699...24,573,438
Ensembl chr 7:24,546,289...24,573,440
JBrowse link
G Zcchc12 zinc finger, CCHC domain containing 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr  X:36,195,904...36,199,164
Ensembl chr  X:36,195,904...36,199,158
JBrowse link
familial adenomatous polyposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 thymoma viral proto-oncogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17942926 NCBI chr12:112,653,821...112,674,884
Ensembl chr12:112,653,821...112,674,884
JBrowse link
G Apc APC, WNT signaling pathway regulator ISO
IEA
ClinVar Annotator: match by term: Familial multiple polyposis syndrome
ClinVar Annotator: match by term: APC-Associated Polyposis Disorders
ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL
ClinVar Annotator: match by term: MYH-associated polyposis
ClinVar Annotator: match by term: Familial adenomatous polyposis
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
OMIM:175100 | OMIM:608456
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:175100
DNA:point mutation:CDS:p.K1137X (3409A>T) (rat)
ClinVar
MouseDO
CTD
RGD
PMID:1316610 PMID:1319115 PMID:1324223 PMID:1338764 PMID:1338904 More... RGD:1331525, RGD:1601201, RGD:2293188 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Cd44 CD44 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:28255344 NCBI chr 2:102,811,141...102,901,669
Ensembl chr 2:102,811,141...102,901,665
JBrowse link
G Csf1r colony stimulating factor 1 receptor severity ISO DNA:SNPs,haplotype:promoter:multiple (pig) RGD PMID:32717306 RGD:150524307 NCBI chr18:61,105,572...61,131,139
Ensembl chr18:61,100,598...61,132,149
JBrowse link
G Cyp26a1 cytochrome P450, family 26, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16885356 NCBI chr19:37,697,738...37,701,536
Ensembl chr19:37,697,798...37,701,536
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25200834 NCBI chr11:16,752,203...16,913,907
Ensembl chr11:16,752,203...16,918,158
JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B, subunit 3 ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr 4:117,019,399...117,086,852
Ensembl chr 4:117,019,402...117,087,306
JBrowse link
G F5 coagulation factor V ISO CTD Direct Evidence: marker/mechanism CTD PMID:25200834 NCBI chr 1:164,151,835...164,220,277
Ensembl chr 1:164,151,838...164,220,277
JBrowse link
G Fmo3 flavin containing monooxygenase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17559352 NCBI chr 1:162,953,799...162,984,528
Ensembl chr 1:162,953,800...162,984,528
JBrowse link
G Grem1 gremlin 1, DAN family BMP antagonist ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561515 NCBI chr 2:113,748,675...113,758,648
Ensembl chr 2:113,746,164...113,758,646
JBrowse link
G Hdac2 histone deacetylase 2 treatment IMP RGD PMID:24218540 RGD:9590246 NCBI chr10:36,974,297...37,001,889
Ensembl chr10:36,974,544...37,001,889
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 4:116,995,296...117,005,277
Ensembl chr 4:116,995,317...117,005,277
JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr 4:116,819,907...116,821,508
Ensembl chr 4:116,819,904...116,821,707
JBrowse link
G Ihh Indian hedgehog IEP RGD PMID:25307863 RGD:11528847 NCBI chr 1:74,945,315...74,951,672
Ensembl chr 1:74,945,315...74,951,672
JBrowse link
G Itih4 inter alpha-trypsin inhibitor, heavy chain 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25200834 NCBI chr14:30,886,476...30,901,986
Ensembl chr14:30,886,476...30,902,353
JBrowse link
G Lrg1 leucine-rich alpha-2-glycoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25200834 NCBI chr17:56,119,678...56,121,946
Ensembl chr17:56,119,678...56,122,001
JBrowse link
G Mcc mutated in colorectal cancers ISO CTD Direct Evidence: marker/mechanism CTD PMID:8071957 NCBI chr18:44,425,060...44,812,182
Ensembl chr18:44,425,060...44,812,182
JBrowse link
G Mir155 microRNA 155 ISO miRNA:decreased expression:colon RGD PMID:30072583 RGD:21409749 NCBI chr16:84,714,140...84,714,204
Ensembl chr16:84,714,140...84,714,204
JBrowse link
G Msh3 mutS homolog 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:92,211,878...92,355,004
Ensembl chr13:92,211,872...92,355,003
JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: MYH-associated polyposis
ClinVar Annotator: match by term: APC-Associated Polyposis Disorders
ClinVar Annotator: match by term: Adenomatous polyposis coli
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:2084865 PMID:9536098 PMID:9846876 PMID:10612827 PMID:11092888 More... RGD:1600191 NCBI chr 4:116,807,636...116,819,439
Ensembl chr 4:116,807,723...116,819,440
JBrowse link
G Nthl1 nth (endonuclease III)-like 1 (E.coli) ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938944 NCBI chr17:24,632,680...24,638,838
Ensembl chr17:24,632,680...24,638,837
JBrowse link
G Pold1 polymerase (DNA directed), delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:44,532,744...44,548,815
Ensembl chr 7:44,532,746...44,548,849
JBrowse link
G Pole polymerase (DNA directed), epsilon ISO ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis ClinVar PMID:20951805 PMID:21157497 PMID:22980975 PMID:23636398 PMID:24033266 More... NCBI chr 5:110,286,319...110,337,468
Ensembl chr 5:110,286,306...110,337,474
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr 4:117,096,056...117,116,101
Ensembl chr 4:117,096,075...117,116,101
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17942926 NCBI chr 1:150,100,031...150,108,234
Ensembl chr 1:150,100,031...150,108,227
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:12907644 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Toe1 target of EGR1, member 1 (nuclear) ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:9536098 PMID:12056405 PMID:14618256 PMID:17576681 PMID:18271935 More... NCBI chr 4:116,804,003...116,807,601
Ensembl chr 4:116,794,310...116,807,640
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr 4:116,989,965...116,994,436
Ensembl chr 4:116,989,965...116,994,413
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:17970811 PMID:25741868 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
JBrowse link
G Zswim5 zinc finger SWIM-type containing 5 ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr 4:116,877,402...116,989,105
Ensembl chr 4:116,877,376...116,989,264
JBrowse link
familial adenomatous polyposis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2210408I21Rik RIKEN cDNA 2210408I21 gene ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr13:77,135,531...77,613,785
Ensembl chr13:77,135,540...77,613,784
JBrowse link
G 5430425K12Rik RIKEN cDNA 5430425K12 gene ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr13:80,940,403...80,948,597
Ensembl chr13:80,940,411...80,948,597
JBrowse link
G 9530068E07Rik RIKEN cDNA 9530068E07 gene ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:52,396,428...52,408,723
Ensembl chr11:52,396,428...52,408,728
JBrowse link
G Ablim3 actin binding LIM protein family, member 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:61,799,392...61,911,885
Ensembl chr18:61,799,392...61,911,824
JBrowse link
G Acsl6 acyl-CoA synthetase long-chain family member 6 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:54,303,805...54,364,756
Ensembl chr11:54,303,798...54,364,756
JBrowse link
G Adamts19 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 19 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:58,835,992...59,053,682
Ensembl chr18:58,836,667...59,054,060
JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr13:81,095,068...81,633,391
Ensembl chr13:81,095,068...81,633,154
JBrowse link
G Adrb2 adrenergic receptor, beta 2 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:62,177,713...62,179,981
Ensembl chr18:62,177,816...62,179,959
JBrowse link
G Afap1l1 actin filament associated protein 1-like 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:61,730,262...61,786,662
Ensembl chr18:61,730,261...61,786,702
JBrowse link
G Aff4 AF4/FMR2 family, member 4 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:53,350,640...53,421,830
Ensembl chr11:53,350,833...53,421,830
JBrowse link
G Aldh7a1 aldehyde dehydrogenase family 7, member A1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:56,524,722...56,572,991
Ensembl chr18:56,509,687...56,572,951
JBrowse link
G Ankhd1 ankyrin repeat and KH domain containing 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:36,560,603...36,658,908
Ensembl chr18:36,559,987...36,658,913
JBrowse link
G Anxa6 annexin A6 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:54,978,953...55,033,471
Ensembl chr11:54,979,108...55,033,445
JBrowse link
G Ap3s1 adaptor-related protein complex 3, sigma 1 subunit ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:46,741,694...46,790,826
Ensembl chr18:46,741,876...46,790,826
JBrowse link
G Apbb3 amyloid beta (A4) precursor protein-binding, family B, member 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:36,671,154...36,679,366
Ensembl chr18:36,671,154...36,679,366
JBrowse link
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar
OMIM
PMID:1316610 PMID:1317264 PMID:1319115 PMID:1319838 PMID:1324223 More... NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Arap3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:37,972,623...37,999,531
Ensembl chr18:37,972,628...37,998,969
JBrowse link
G Arhgap26 Rho GTPase activating protein 26 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:38,601,617...39,376,285
Ensembl chr18:38,993,145...39,376,284
Ensembl chr18:38,993,145...39,376,284
JBrowse link
G Arhgef37 Rho guanine nucleotide exchange factor (GEF) 37 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:61,491,657...61,536,928
Ensembl chr18:61,491,657...61,536,594
JBrowse link
G Arl14epl ADP-ribosylation factor-like 14 effector protein-like ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:46,921,812...46,934,222
Ensembl chr18:46,921,815...46,934,232
JBrowse link
G Arrdc3 arrestin domain containing 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr13:80,883,384...80,896,042
Ensembl chr13:80,883,384...80,896,042
JBrowse link
G Arsi arylsulfatase i ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:60,911,991...60,919,506
Ensembl chr18:60,911,780...60,918,561
JBrowse link
G Arsk arylsulfatase K ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr13:76,060,422...76,098,660
Ensembl chr13:76,060,422...76,098,660
JBrowse link
G Atg12 autophagy related 12 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:46,732,417...46,741,724
Ensembl chr18:46,730,144...46,741,580
JBrowse link
G Atox1 antioxidant 1 copper chaperone ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:55,446,637...55,461,208
Ensembl chr11:55,446,641...55,461,239
JBrowse link
G B230219D22Rik RIKEN cDNA B230219D22 gene ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr13:55,693,124...55,703,500
Ensembl chr13:55,693,124...55,703,500
JBrowse link
G Brd8 bromodomain containing 8 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:34,598,611...34,624,863
Ensembl chr18:34,598,615...34,624,601
JBrowse link
G C330018D20Rik RIKEN cDNA C330018D20 gene ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:56,955,828...56,975,379
Ensembl chr18:56,955,833...56,975,368
JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:60,925,307...60,988,152
Ensembl chr18:60,925,618...60,988,152
JBrowse link
G Camk4 calcium/calmodulin-dependent protein kinase IV ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:32,934,941...33,195,767
Ensembl chr18:32,934,931...33,191,228
JBrowse link
G Caml calcium modulating ligand ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr13:55,623,005...55,632,416
Ensembl chr13:55,623,005...55,632,411
JBrowse link
G Cast calpastatin ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr13:74,692,366...74,808,874
Ensembl chr13:74,692,368...74,808,810
JBrowse link
G Catsper3 cation channel, sperm associated 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr13:55,784,500...55,824,048
Ensembl chr13:55,784,568...55,808,998
JBrowse link
G Ccdc112 coiled-coil domain containing 112 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:46,282,151...46,311,950
Ensembl chr18:46,282,151...46,311,928
JBrowse link
G Ccdc69 coiled-coil domain containing 69 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:55,049,733...55,078,666
Ensembl chr11:55,049,731...55,078,131
JBrowse link
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr13:85,189,377...85,213,731
Ensembl chr13:85,189,408...85,223,469
JBrowse link
G Cd14 CD14 antigen ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:36,725,064...36,726,815
Ensembl chr18:36,725,067...36,726,798
JBrowse link
G Cd74 CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated) ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:60,803,849...60,812,652
Ensembl chr18:60,803,848...60,812,652
JBrowse link
G Cdc23 CDC23 cell division cycle 23 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:34,628,348...34,651,749
Ensembl chr18:34,630,951...34,651,735
JBrowse link
G Cdc25c cell division cycle 25C ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr18:34,732,993...34,751,564
Ensembl chr18:34,732,993...34,751,533