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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 EXP
IAGP
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 chr11:67,468,179...67,491,103
Ensembl chr11:67,468,174...67,491,154
JBrowse link
G AVPR1B arginine vasopressin receptor 1B IEP RGD PMID:23884782 RGD:14700670 NCBI chr 1:206,106,936...206,117,388
Ensembl chr 1:206,106,936...206,117,699
JBrowse link
G BMP4 bone morphogenetic protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16195406 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G USP8 ubiquitin specific peptidase 8 EXP
IAGP
CTD Direct Evidence: marker/mechanism CTD
OMIM
PMID:25485838 NCBI chr15:50,424,359...50,514,421
Ensembl chr15:50,424,380...50,514,421
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 ISO RGD PMID:10489374 RGD:150540314 NCBI chr12:120,977,683...121,002,512
Ensembl chr12:120,978,543...121,002,512
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) EXP CTD Direct Evidence: marker/mechanism CTD PMID:21544799 NCBI chr 4:88,090,264...88,231,626
Ensembl chr 4:88,090,150...88,231,628
JBrowse link
G AIP aryl hydrocarbon receptor interacting protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:22975028 NCBI chr11:67,468,179...67,491,103
Ensembl chr11:67,468,174...67,491,154
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18927292 NCBI chr10:45,374,209...45,446,121
Ensembl chr10:45,374,176...45,446,119
JBrowse link
G AMACR alpha-methylacyl-CoA racemase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17684125 NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP
EXP
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 chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23416519 PMID:23913004 NCBI chr 1:116,372,986...116,410,259
Ensembl chr 1:116,372,668...116,410,261
JBrowse link
G ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23913004 NCBI chr17:3,923,869...3,964,464
Ensembl chr17:3,923,870...3,964,464
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23416519 NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,642...153,582,939
JBrowse link
G BCL2 BCL2 apoptosis regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:10223192 PMID:10426811 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BCL2L1 BCL2 like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10426811 NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989
JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D EXP CTD Direct Evidence: marker/mechanism CTD PMID:23913001 PMID:23913004 NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733
JBrowse link
G CTNNB1 catenin beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10223192 PMID:10965019 NCBI chr 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11376689 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IEP protein:decreased expression: : RGD PMID:24080855 RGD:10401654 NCBI chr 2:55,865,967...55,924,163
Ensembl chr 2:55,865,967...55,924,139
JBrowse link
G ESR2 estrogen receptor 2 IEP ratio with Esr1;mRNA:decreased expression:thyroid gland (human) RGD PMID:11721176 RGD:8694118 NCBI chr14:64,226,707...64,338,631
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G GJA1 gap junction protein alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16926031 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G GJB1 gap junction protein beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16926031 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516
JBrowse link
G IGF1 insulin like growth factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:1611713 NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G INS insulin ISO protein:increased secretion:serum RGD PMID:12917331 RGD:2317273 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23913001 PMID:23913004 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
JBrowse link
G KLF5 Kruppel like factor 5 ISO RGD PMID:14726538 RGD:1304288 NCBI chr13:73,054,976...73,077,538
Ensembl chr13:73,054,976...73,077,541
JBrowse link
G KRAS KRAS proto-oncogene, GTPase EXP CTD Direct Evidence: marker/mechanism CTD PMID:8761429 PMID:10545420 PMID:10813127 PMID:25851810 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G MEN1 menin 1 ISO DNA:deletion:exons RGD PMID:12917331 RGD:2317273 NCBI chr11:64,803,514...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G MIR144 microRNA 144 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr17:28,861,533...28,861,618
Ensembl chr17:28,861,533...28,861,618
JBrowse link
G MIR345 microRNA 345 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr14:100,307,859...100,307,956
Ensembl chr14:100,307,859...100,307,956
JBrowse link
G MIR425 microRNA 425 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 3:49,020,148...49,020,234
Ensembl chr 3:49,020,148...49,020,234
JBrowse link
G MIR497 microRNA 497 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr17:7,017,911...7,018,022
Ensembl chr17:7,017,911...7,018,022
JBrowse link
G MIR502 microRNA 502 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr  X:50,014,598...50,014,683
Ensembl chr  X:50,014,598...50,014,683
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17389618 NCBI chr 5:7,851,186...7,901,124
Ensembl chr 5:7,851,186...7,906,025
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming EXP CTD Direct Evidence: marker/mechanism CTD PMID:12468628 NCBI chr11:1,074,875...1,110,508
Ensembl chr11:1,074,875...1,110,511
JBrowse link
G NCAM1 neural cell adhesion molecule 1 IEP protein:increased expression:gallbladder RGD PMID:15100237 RGD:2326070 NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,247...113,278,436
JBrowse link
G NF1 neurofibromin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G PRL prolactin EXP CTD Direct Evidence: marker/mechanism CTD PMID:2274009 PMID:12058109 NCBI chr 6:22,287,246...22,302,897
Ensembl chr 6:22,287,244...22,302,826
JBrowse link
G PTMA prothymosin alpha EXP CTD Direct Evidence: therapeutic CTD PMID:10822126 NCBI chr 2:231,708,525...231,713,551
Ensembl chr 2:231,706,895...231,713,551
JBrowse link
G SELENOP selenoprotein P EXP CTD Direct Evidence: marker/mechanism CTD PMID:18483336 NCBI chr 5:42,799,880...42,811,892
Ensembl chr 5:42,799,880...42,887,392
JBrowse link
G SLC19A1 solute carrier family 19 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16963246 NCBI chr21:45,502,517...45,563,140
Ensembl chr21:45,493,572...45,573,365
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr17:31,937,007...32,001,040
Ensembl chr17:31,937,007...32,001,038
JBrowse link
G TCN2 transcobalamin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17389618 NCBI chr22:30,607,174...30,627,271
Ensembl chr22:30,607,003...30,627,271
JBrowse link
G TP53 tumor protein p53 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21946351 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17823441 NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797
JBrowse link
G TSHR thyroid stimulating hormone receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:8413627 NCBI chr14:80,954,989...81,146,306
Ensembl chr14:80,954,989...81,146,306
JBrowse link
G TXNRD1 thioredoxin reductase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18483336 NCBI chr12:104,215,779...104,350,307
Ensembl chr12:104,215,779...104,350,307
JBrowse link
G VHL von Hippel-Lindau tumor suppressor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16061637 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667
JBrowse link
Adenomatous Polyps term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway EXP CTD Direct Evidence: marker/mechanism CTD PMID:12810952 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G CDX2 caudal type homeobox 2 ISO RGD PMID:9052785 RGD:734757 NCBI chr13:27,960,918...27,969,337
Ensembl chr13:27,960,918...27,969,315
JBrowse link
G DEFA5 defensin alpha 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15844706 NCBI chr 8:7,055,304...7,056,739
Ensembl chr 8:7,055,304...7,056,739
JBrowse link
G SMO smoothened, frizzled class receptor ISO RGD PMID:19427313 RGD:150340551 NCBI chr 7:129,188,633...129,213,548
Ensembl chr 7:129,188,633...129,213,545
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 tyrosine kinase 2 disease_progression IDA RGD PMID:29043607 RGD:150429712 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
G IFITM1 interferon induced transmembrane protein 1 disease_progression IDA RGD PMID:29043607 RGD:150429712 NCBI chr11:314,040...315,272
Ensembl chr11:310,041...315,272
JBrowse link
adrenal cortical adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 IAGP ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma ClinVar PMID:23416519 NCBI chr 1:116,372,986...116,410,259
Ensembl chr 1:116,372,668...116,410,261
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 IAGP ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma ClinVar PMID:23416519 NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,642...153,582,939
JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 IEP mRNA:decreased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846
JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 IEP mRNA:increased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human) RGD PMID:24855271 RGD:13515122 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:29669941 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
JBrowse link
Aerodigestive Tract Squamous Cell Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide IAGP ClinVar Annotator: match by term: Aerodigestive tract cancer, squamous cell, alcohol-related, protection against ClinVar PMID:2398055 PMID:2547609 PMID:6374651 PMID:10697413 PMID:12050823 NCBI chr 4:99,304,971...99,321,401
Ensembl chr 4:99,304,971...99,352,760
JBrowse link
ameloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G SMO smoothened, frizzled class receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 7:129,188,633...129,213,548
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
angiokeratoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLA galactosidase alpha EXP CTD Direct Evidence: therapeutic CTD PMID:19925601 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012
JBrowse link
G NAGA alpha-N-acetylgalactosaminidase IAGP Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842
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 IAGP ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 7:92,245,974...92,401,383
Ensembl chr 7:92,245,974...92,401,383
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing IAGP ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
JBrowse link
G LOC113748416 Sharpr-MPRA regulatory region 5961 IAGP ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr 7:92,245,795...92,246,089 JBrowse link
angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OGG1 8-oxoguanine DNA glycosylase no_association IEP
IAGP
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 3:9,749,952...9,788,246
Ensembl chr 3:9,749,944...9,788,219
JBrowse link
G PTEN phosphatase and tensin homolog IEP protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G STAT1 signal transducer and activator of transcription 1 IEP protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr 2:190,968,989...191,014,197
Ensembl chr 2:190,908,460...191,020,960
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IEP protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G TSC2 TSC complex subunit 2 IEP associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney RGD PMID:19265534 RGD:8657154 NCBI chr16:2,047,804...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL20 C-C motif chemokine ligand 20 IEP protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
JBrowse link
G CD8A CD8a molecule HEP mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,867,771...203,873,965
JBrowse link
G FOXP3 forkhead box P3 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:49,250,436...49,264,932
Ensembl chr  X:49,250,438...49,270,477
JBrowse link
G IFNA6 interferon alpha 6 treatment IEP RGD PMID:25774455 RGD:36174028 NCBI chr 9:21,350,318...21,350,887
Ensembl chr 9:21,349,835...21,351,378
JBrowse link
G IL10 interleukin 10 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G IL12B interleukin 12B treatment IEP protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,487
JBrowse link
G IL2 interleukin 2 IEP protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL21 interleukin 21 IEP protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G IL4 interleukin 4 treatment IEP protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G IL6 interleukin 6 IEP protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KLRK1 killer cell lectin like receptor K1 IEP mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 treatment HEP mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr10:48,306,673...48,439,360
Ensembl chr10:48,306,639...48,439,360
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,478...38,143,022
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 IEP mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr19:54,906,063...54,938,211
Ensembl chr19:54,906,148...54,916,140
JBrowse link
G PDCD1 programmed cell death 1 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:241,849,881...241,858,908
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IEP protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IEP protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
JBrowse link
G SERPINF1 serpin family F member 1 disease_progression IEP mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
G TGFB1 transforming growth factor beta 1 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TLR2 toll like receptor 2 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:153,684,080...153,710,643
Ensembl chr 4:153,684,070...153,706,260
JBrowse link
G TLR3 toll like receptor 3 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,069,155...186,088,073
JBrowse link
G TLR4 toll like receptor 4 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TLR7 toll like receptor 7 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361
JBrowse link
G TLR8 toll like receptor 8 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169
JBrowse link
G TLR9 toll like receptor 9 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 IEP mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:1,203,508...1,207,901
Ensembl chr 1:1,203,508...1,206,592
JBrowse link
Arteriovenous Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme treatment ISO protein:increased activity:heart left ventricle (rat) RGD PMID:22768235 PMID:8386093 RGD:12859285, RGD:12880017 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G ACKR1 atypical chemokine receptor 1 (Duffy blood group) ISO RGD PMID:24429330 RGD:9681736 NCBI chr 1:159,204,875...159,206,500
Ensembl chr 1:159,203,307...159,206,500
JBrowse link
G ANGPT2 angiopoietin 2 ISO mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409
JBrowse link
G ARRB1 arrestin beta 1 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr11:75,260,122...75,351,662
Ensembl chr11:75,260,122...75,351,705
JBrowse link
G ARRB2 arrestin beta 2 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr17:4,710,619...4,721,500
Ensembl chr17:4,710,596...4,721,499
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO in Long Evans rats;mRNA:increased expression:aorta RGD PMID:16428894 RGD:8552771 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G DES desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
JBrowse link
G FGF2 fibroblast growth factor 2 IEP RGD PMID:10541235 RGD:8655590 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO protein:increased expression:ileal vein RGD PMID:17398390 PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:17398390 PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chr 3:12,153,068...12,158,912
Ensembl chr 3:12,153,068...12,158,912
JBrowse link
G VEGFA vascular endothelial growth factor A ISO
IEP
protein:increased expression:brain cortex, brain dura mater: RGD PMID:24626343 PMID:10541235 RGD:8551823, RGD:8655590 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
arteriovenous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 ISO RGD PMID:11062473 RGD:1300250 NCBI chr12:51,906,913...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G ENG endoglin susceptibility IAGP
ISO
associated with Telangiectasia, Hereditary Hemorrhagic; RGD PMID:8728706 PMID:24520391 RGD:11041184, RGD:11041564 NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G EPHB4 EPH receptor B4 IAGP ClinVar Annotator: match by term: Arteriovenous malformation ClinVar PMID:25741868 PMID:28687708 PMID:30578106 PMID:30760892 NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
JBrowse link
G GLMN glomulin, FKBP associated protein IAGP glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chr 1:92,245,786...92,441,936
Ensembl chr 1:92,246,402...92,298,987
JBrowse link
G MAP2 microtubule associated protein 2 ISO protein:decreased expression:hippocampus RGD PMID:20873448 RGD:6483324 NCBI chr 2:209,424,047...209,734,118
Ensembl chr 2:209,424,047...209,734,118
JBrowse link
G MMP9 matrix metallopeptidase 9 IEP RGD PMID:16720380 RGD:1582655 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:14639529 PMID:15917201 RGD:1581296 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
G TEK TEK receptor tyrosine kinase susceptibility IAGP DNA:missense mutation: :p.R849W RGD PMID:8980225 RGD:1578533 NCBI chr 9:27,109,141...27,230,178
Ensembl chr 9:27,109,141...27,230,174
JBrowse link
arteriovenous malformations of the brain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 ISS OMIM:108010 MouseDO NCBI chr12:51,906,913...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G ADGRV1 adhesion G protein-coupled receptor V1 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:90,558,796...91,164,437
Ensembl chr 5:90,529,344...91,164,437
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP 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 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr16:1,153,106...1,221,769
Ensembl chr16:1,153,106...1,221,771
JBrowse link
G CDH2 cadherin 2 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr18:27,932,878...28,177,130
Ensembl chr18:27,932,879...28,177,946
JBrowse link
G EGFR epidermal growth factor receptor IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G ENG endoglin disease_progression IAGP
ISS
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
OMIM:108010
DNA:polymorphism: : 207G>A(human)
ClinVar
MouseDO
RGD
PMID:25741868 PMID:16179574 PMID:24520391 PMID:24876084 RGD:1580962, RGD:11041564, RGD:11041171 NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IEP protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G IL17RD interleukin 17 receptor D IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053 PMID:25741868 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
JBrowse link
G IL6 interleukin 6 IAGP OMIM NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KDR kinase insert domain receptor IEP protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP 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 chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LEMD3 LEM domain containing 3 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
JBrowse link
G MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 2:101,697,707...101,894,690
Ensembl chr 2:101,696,850...101,894,690
JBrowse link
G NOTCH4 notch receptor 4 ISO
ISS
OMIM:108010 MouseDO
RGD
PMID:19546852 RGD:6480671 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067
JBrowse link
G NRIP3-DT NRIP3 divergent transcript IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr11:9,004,093...9,069,363 JBrowse link
G PDCD10 programmed cell death 10 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:167,683,298...167,735,810
Ensembl chr 3:167,683,298...167,734,939
JBrowse link
G PITPNM3 PITPNM family member 3 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr17:6,451,263...6,556,555
Ensembl chr17:6,451,263...6,556,555
JBrowse link
G PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 8:67,951,918...68,237,032
Ensembl chr 8:67,952,046...68,237,032
JBrowse link
G SARS1 seryl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 1:109,213,893...109,238,182
Ensembl chr 1:109,213,918...109,238,182
JBrowse link
G SCUBE2 signal peptide, CUB domain and EGF like domain containing 2 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr11:9,019,476...9,091,599
Ensembl chr11:9,019,476...9,138,114
JBrowse link
G SYN3 synapsin III IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr22:32,507,820...33,058,381
Ensembl chr22:32,507,820...33,058,381
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041
JBrowse link
G VEGFA vascular endothelial growth factor A IEP RGD PMID:16388189 RGD:1580567 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G ZFYVE16 zinc finger FYVE-type containing 16 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:80,407,615...80,483,379
Ensembl chr 5:80,408,013...80,483,379
JBrowse link
Attenuated Adenomatous Polyposis Coli term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Brain tumor-polyposis syndrome 2 ClinVar PMID:1316610 PMID:1324223 PMID:8990002 PMID:9950360 PMID:11317365 More... NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 IAGP ClinVar Annotator: match by term: Adenomatous polyposis coli, attenuated ClinVar PMID:19617566 PMID:20551049 PMID:22461326 PMID:24038392 PMID:25741868 More... NCBI chr 9:98,807,670...98,850,081
Ensembl chr 9:98,807,670...98,850,081
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 IAGP ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 More... NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP 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 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome
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
OMIM
PMID:1097835 PMID:2338203 PMID:7728760 PMID:8673088 PMID:8980400 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA ClinVar PMID:27604842 PMID:28492532 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,722...17,054,032
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 IAGP DNA:missense mutations, nonsense mutations RGD PMID:25395299 RGD:150523793 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
bile duct adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP DNA:missense mutation:cds:p.V600E (human) RGD PMID:25704541 RGD:11521169 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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 IEP associated with schistosomiasis;protein:decreased expression:urothelium (human) RGD PMID:26916953 RGD:127285612 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29103775 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CCNE1 cyclin E1 IEP associated with Vulvar Neoplasms;mRNA:increased expression:vulva RGD PMID:17471573 RGD:2289255 NCBI chr19:29,811,991...29,824,312
Ensembl chr19:29,811,991...29,824,312
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IEP protein:increased expression:skin: RGD PMID:10583111 RGD:8662826 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
JBrowse link
G NRF1 nuclear respiratory factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21514422 NCBI chr 7:129,611,720...129,757,076
Ensembl chr 7:129,611,720...129,757,082
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:21514422 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G TFAM transcription factor A, mitochondrial EXP CTD Direct Evidence: marker/mechanism CTD PMID:21514422 NCBI chr10:58,385,409...58,399,220
Ensembl chr10:58,385,345...58,399,220
JBrowse link
breast fibroadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT7B Wnt family member 7B IEP mRNA:increased expression:tumor:increased in 10% of malignant neoplasms vs normal tissue and fibroadenomas RGD PMID:8168088 RGD:2291878 NCBI chr22:45,920,362...45,977,162
Ensembl chr22:45,920,366...45,977,162
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 IAGP ClinVar Annotator: match by term: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA OMIM
ClinVar
PMID:25315659 NCBI chr 6:148,193,440...148,552,049
Ensembl chr 6:148,272,304...148,552,044
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 IAGP ClinVar Annotator: match by term: Capillary hemangiomas ClinVar PMID:25741868 NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506
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 IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation ClinVar PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18446851 More... NCBI chr 5:87,311,471...87,412,971
Ensembl chr 5:87,318,416...87,412,930
JBrowse link
G LOC644285 uncharacterized LOC644285 IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation ClinVar PMID:28492532 NCBI chr 5:87,318,415...87,323,628 JBrowse link
G RASA1 RAS p21 protein activator 1 susceptibility IAGP
EXP
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 chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
G STAMBP STAM binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr 2:73,828,911...73,873,656
Ensembl chr 2:73,828,916...73,873,659
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 IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:14639529 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 More... NCBI chr 5:87,311,471...87,412,971
Ensembl chr 5:87,318,416...87,412,930
JBrowse link
G LOC644285 uncharacterized LOC644285 IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:28492532 NCBI chr 5:87,318,415...87,323,628 JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 OMIM
ClinVar
PMID:14639529 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 More... NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
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 IAGP 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 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
JBrowse link
G SLC12A9 solute carrier family 12 member 9 IAGP 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 7:100,826,869...100,867,012
Ensembl chr 7:100,826,820...100,867,010
JBrowse link
Carney Triad term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP ClinVar Annotator: match by term: Carney triad
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 chr 5:218,309...264,816
Ensembl chr 5:218,303...257,082
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ClinVar Annotator: match by term: Carney triad ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 More... NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,722...17,054,032
JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP ClinVar Annotator: match by term: Carney triad ClinVar PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 More... NCBI chr 1:161,314,381...161,375,340
Ensembl chr 1:161,314,381...161,363,206
JBrowse link
cavernous hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCM2 CCM2 scaffold protein IAGP ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:25741868 NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing IAGP ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:10508515 PMID:10545614 PMID:11222804 PMID:12404106 PMID:23595507 More... NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
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 IAGP ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chr 5:87,311,471...87,412,971
Ensembl chr 5:87,318,416...87,412,930
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
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 IAGP ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667
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 anchoring protein 9 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673
JBrowse link
G ANKIB1 ankyrin repeat and IBR domain containing 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 7:92,245,974...92,401,383
Ensembl chr 7:92,245,974...92,401,383
JBrowse link
G CCM2 CCM2 scaffold protein EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD
ClinVar
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532 NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 7:92,112,153...92,134,803
Ensembl chr 7:92,084,987...92,134,803
JBrowse link
G CYP51A1-AS1 CYP51A1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 7:92,134,563...92,180,725
Ensembl chr 7:92,134,604...92,180,725
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IEP protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G KDR kinase insert domain receptor IEP protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing susceptibility IAGP
EXP
ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformations 1
ClinVar
CTD
RGD
PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 More... RGD:1598379, RGD:1358458 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
JBrowse link
G LOC113748416 Sharpr-MPRA regulatory region 5961 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 7:92,245,795...92,246,089 JBrowse link
G LRRD1 leucine rich repeats and death domain containing 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 7:92,141,643...92,179,142
Ensembl chr 7:92,141,643...92,179,531
JBrowse link
G MIR1285-1 microRNA 1285-1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:17187287 PMID:17211633 PMID:20798775 PMID:28492532 NCBI chr 7:92,204,015...92,204,098
Ensembl chr 7:92,204,015...92,204,098
JBrowse link
G NOTCH3 notch receptor 3 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G PDCD10 programmed cell death 10 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 More... NCBI chr 3:167,683,298...167,735,810
Ensembl chr 3:167,683,298...167,734,939
JBrowse link
G PON1 paraoxonase 1 susceptibility IAGP DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PTEN phosphatase and tensin homolog IEP protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G SERPINI1 serpin family I member 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 3:167,735,721...167,825,569
Ensembl chr 3:167,735,243...167,825,569
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 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformations 1 ClinVar
OMIM
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 More... NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCM2 CCM2 scaffold protein IAGP ClinVar Annotator: match by term: Cerebral cavernous malformations 2 OMIM
ClinVar
PMID:2468908 PMID:14624391 PMID:14740320 PMID:15122722 PMID:16199547 More... NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
JBrowse link
G NACAD NAC alpha domain containing IAGP ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr 7:45,080,432...45,089,452
Ensembl chr 7:45,080,437...45,088,969
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 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformations 3 OMIM
ClinVar
PMID:9536098 PMID:15543491 PMID:17576681 PMID:18035376 PMID:18060436 More... NCBI chr 3:167,683,298...167,735,810
Ensembl chr 3:167,683,298...167,734,939
JBrowse link
G SERPINI1 serpin family I member 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformations 3 ClinVar PMID:18060436 PMID:20623299 PMID:28492532 NCBI chr 3:167,735,721...167,825,569
Ensembl chr 3:167,735,243...167,825,569
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 IEP protein:increased expression:cervix squamous epithelium (human) RGD PMID:28109322 RGD:125097518 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
JBrowse link
G BAX BCL2 associated X, apoptosis regulator IEP protein:increased expression:uterine cervix RGD PMID:17694953 RGD:1643352 NCBI chr19:48,954,825...48,961,798
Ensembl chr19:48,954,815...48,961,798
JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 disease_progression IEP DNA, protein:amplification, increased expression:uterine cervix, nucleus RGD PMID:12208731 RGD:1643529 NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 severity IEP mRNA, protein:increased expression:uterine cervix, nucleus (human) RGD PMID:24708616 RGD:11252104 NCBI chr17:61,679,139...61,864,120
Ensembl chr17:61,679,139...61,863,559
JBrowse link
G CCL22 C-C motif chemokine ligand 22 severity IEP RGD PMID:28086903 RGD:38455996 NCBI chr16:57,358,783...57,366,189
Ensembl chr16:57,358,783...57,366,189
JBrowse link
G CCR4 C-C motif chemokine receptor 4 severity IEP RGD PMID:28086903 RGD:38455996 NCBI chr 3:32,951,555...32,956,349
Ensembl chr 3:32,951,644...32,956,349
JBrowse link
G CD82 CD82 molecule IEP protein:decreased expression:uterine cervix RGD PMID:15642213 RGD:2289399 NCBI chr11:44,565,610...44,620,363
Ensembl chr11:44,564,427...44,620,358
JBrowse link
G CSF1R colony stimulating factor 1 receptor IEP protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
JBrowse link
G FGF7 fibroblast growth factor 7 IEP cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells RGD PMID:17306351 RGD:2289084 NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 no_association IAGP DNA:missense mutation:cds: p.S249G (human) RGD PMID:11605053 RGD:38500202 NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit disease_progression IEP protein:increased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230
JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit IEP protein:decreased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr11:65,892,049...65,900,545
Ensembl chr11:65,892,049...65,900,573
JBrowse link
G FOXP3 forkhead box P3 severity IEP RGD PMID:28086903 RGD:38455996 NCBI chr  X:49,250,436...49,264,932
Ensembl chr  X:49,250,438...49,270,477
JBrowse link
G MIR21 microRNA 21 IEP RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G PDPN podoplanin disease_progression IEP RGD PMID:16528371 RGD:2292237 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
JBrowse link
G SMAD3 SMAD family member 3 severity IEP RGD PMID:28086903 RGD:38455996 NCBI chr15:67,065,602...67,195,195
Ensembl chr15:67,063,763...67,195,173
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 IEP protein:decreased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
JBrowse link
G TMBIM6 transmembrane BAX inhibitor motif containing 6 disease_progression IEP mRNA:increased expression:uterine cervix RGD PMID:15337562 RGD:2291959 NCBI chr12:49,741,557...49,764,934
Ensembl chr12:49,707,725...49,764,934
JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 severity IEP RGD PMID:28086903 RGD:38455996 NCBI chr 1:1,211,326...1,216,812
Ensembl chr 1:1,211,340...1,214,153
JBrowse link
G TNFSF4 TNF superfamily member 4 severity IEP RGD PMID:28086903 RGD:38455996 NCBI chr 1:173,183,729...173,462,208
Ensembl chr 1:173,183,731...173,207,331
JBrowse link
G TP53 tumor protein p53 disease_progression IEP RGD PMID:17969407 RGD:2298526 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TYMP thymidine phosphorylase disease_progression IEP RGD PMID:16803522 RGD:2293719 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
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 IEP protein:increased expression:brain: RGD PMID:21466243 RGD:13702864 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
chondroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H3-3B H3.3 histone B EXP CTD Direct Evidence: marker/mechanism CTD PMID:24162739 NCBI chr17:75,776,434...75,779,779
Ensembl chr17:75,776,434...75,785,893
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 IAGP ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type ClinVar
OMIM
PMID:3975110 PMID:9268097 PMID:9649554 PMID:9745456 PMID:10523019 More... NCBI chr 3:46,877,689...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
chondroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22057234 PMID:25895133 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22057234 PMID:25895133 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
JBrowse link
G IHH Indian hedgehog signaling molecule ISO RGD PMID:26091072 RGD:12910968 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X (human) RGD PMID:20577567 RGD:11069623 NCBI chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO RGD PMID:26091072 RGD:12910968 NCBI chr 7:129,188,633...129,213,548
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
choroid plexus papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Choroid plexus papilloma
ClinVar Annotator: match by term: Papilloma of choroid plexus
ClinVar
OMIM
PMID:1565143 PMID:1565144 PMID:1683921 PMID:7732013 PMID:7887414 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
chromosome 10q23 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1A bone morphogenetic protein receptor type 1A ISS OMIM:612242 MouseDO NCBI chr10:86,755,786...86,927,969
Ensembl chr10:86,756,601...86,932,825
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 IAGP 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 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
CLOVES syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNA11 G protein subunit alpha 11 IAGP ClinVar Annotator: match by term: CLOVE SYNDROME ClinVar PMID:25741868 PMID:27476652 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP DNA: missense mutations: exon :p.H1047R, p.H1047L
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
ClinVar
OMIM
RGD
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... RGD:13207409 NCBI chr 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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 IEP protein:increased expression:colonic mucosa (human) RGD PMID:10363580 RGD:10401945 NCBI chr11:68,052,859...68,121,389
Ensembl chr11:68,052,859...68,121,444
JBrowse link
G IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 ISO RGD PMID:26194191 RGD:11086893 NCBI chr17:48,997,385...49,056,145
Ensembl chr17:48,997,385...49,056,145
JBrowse link
G RAC1 Rac family small GTPase 1 IEP RGD PMID:12865273 RGD:13432048 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IEP mRNA:decreased expression:colon (human) RGD PMID:29875879 RGD:150429665 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
colorectal adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Colorectal adenoma ClinVar PMID:2472832 PMID:10811618 PMID:11257105 PMID:11904335 PMID:16454848 More... NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G BIRC7 baculoviral IAP repeat containing 7 IEP RGD PMID:21122381 RGD:13217408 NCBI chr20:63,235,905...63,240,495
Ensembl chr20:63,235,883...63,240,495
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression IEP protein:increased expression:large intestine RGD PMID:30214616 RGD:126779593 NCBI chr 7:148,807,374...148,884,344
Ensembl chr 7:148,807,257...148,884,321
JBrowse link
G F5 coagulation factor V IEP protein:increased expression:serum RGD PMID:30971492 RGD:40907058 NCBI chr 1:169,511,951...169,586,630
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit IEP RGD PMID:8264230 RGD:13210753 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,282,230
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:deletion:cds (human) RGD PMID:20375710 RGD:7495820 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTP1 glutathione S-transferase pi 1 IAGP DNA:SNP: :p.A114V (human) RGD PMID:20375710 RGD:7495820 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit IEP RGD PMID:8264230 RGD:13210753 NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048
JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 HEP protein:decreased expression:colorectum (human) RGD PMID:28423721 RGD:150429743 NCBI chr17:12,020,822...12,143,828
Ensembl chr17:12,020,829...12,143,830
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 IEP
IDA
RGD PMID:21122381 PMID:23082052 RGD:13217408, RGD:13217413 NCBI chr10:48,306,673...48,439,360
Ensembl chr10:48,306,639...48,439,360
JBrowse link
G MIR224 microRNA 224 IEP mRNA:increased expression:colorectal mucosa: RGD PMID:25919696 RGD:14398749 NCBI chr  X:151,958,578...151,958,658
Ensembl chr  X:151,958,578...151,958,658
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ameliorates ISO RGD PMID:30063920 RGD:150519915 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,478...38,143,022
JBrowse link
G PTCH1 patched 1 IEP RGD PMID:24612059 RGD:150523840 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IEP RGD PMID:21122381 RGD:13217408 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
JBrowse link
G SMAD4 SMAD family member 4 IEP mRNA:increased expression:mucosa RGD PMID:11480790 RGD:21066339 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IEP protein:increased expression:serum, colorectal mucosa, epithelial cell RGD PMID:23082052 RGD:13217413 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
conjunctival squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM3A ADAM metallopeptidase domain 3A (pseudogene) IAGP DNA, mRNA:amplification, increase expression RGD PMID:25491297 RGD:13831354 NCBI chr 8:39,451,045...39,522,989
Ensembl chr 8:39,451,045...39,522,852
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 IAGP ClinVar Annotator: match by term: Lipoma of corpus callosum ClinVar PMID:25741868 NCBI chr11:117,201,156...117,232,525
Ensembl chr11:117,204,337...117,232,525
JBrowse link
cystadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDOA aldolase, fructose-bisphosphate A IEP protein:increased expression:pancreas RGD PMID:19077459 RGD:2325696 NCBI chr16:30,053,151...30,070,414
Ensembl chr16:30,053,090...30,070,420
Ensembl chr16:30,053,090...30,070,420
Ensembl chr16:30,053,090...30,070,420
JBrowse link
dermoid cyst of ovary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXO3 forkhead box O3 ISS OMIM:166950 MouseDO NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774
JBrowse link
epidermodysplasia verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC6 transmembrane channel like 6 EXP
IAGP
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 chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407
JBrowse link
G TMC8 transmembrane channel like 8 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 More... NCBI chr17:78,129,298...78,142,968
Ensembl chr17:78,130,770...78,142,968
JBrowse link
Epidermodysplasia Verruciformis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC6 transmembrane channel like 6 IAGP ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar
OMIM
PMID:9536098 PMID:12426567 PMID:15042430 PMID:17139267 PMID:17576681 More... NCBI chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407
JBrowse link
G TMC8 transmembrane channel like 8 IAGP ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532 NCBI chr17:78,129,298...78,142,968
Ensembl chr17:78,130,770...78,142,968
JBrowse link
Epidermodysplasia Verruciformis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC8 transmembrane channel like 8 IAGP 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 chr17:78,129,298...78,142,968
Ensembl chr17:78,130,770...78,142,968
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 IAGP ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 ClinVar
OMIM
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28646613 More... NCBI chr15:90,229,975...90,265,759
Ensembl chr15:90,229,975...90,234,047
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 IAGP ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 ClinVar
OMIM
PMID:22850876 NCBI chr 4:40,191,080...40,246,967
Ensembl chr 4:40,191,053...40,246,967
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 IAGP ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 OMIM
ClinVar
PMID:25981006 NCBI chr 8:78,675,870...78,806,830
Ensembl chr 8:78,675,743...78,805,523
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 EXP CTD Direct Evidence: therapeutic CTD PMID:15982392 NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398
JBrowse link
Epithelioid Leiomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A5 collagen type IV alpha 5 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545
JBrowse link
G COL4A6 collagen type IV alpha 6 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chr  X:108,155,607...108,439,493
Ensembl chr  X:108,155,607...108,439,497
JBrowse link
esophagus squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC2 ATP binding cassette subfamily C member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21206495 NCBI chr10:99,782,602...99,853,741
Ensembl chr10:99,782,640...99,852,594
JBrowse link
G ADCYAP1 adenylate cyclase activating polypeptide 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr18:904,384...912,172
Ensembl chr18:904,871...912,172
JBrowse link
G ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide EXP CTD Direct Evidence: marker/mechanism CTD PMID:22960999 NCBI chr 4:99,304,971...99,321,401
Ensembl chr 4:99,304,971...99,352,760
JBrowse link
G AJUBA ajuba LIM protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr14:22,971,177...22,982,551
Ensembl chr14:22,971,177...22,982,551
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member EXP CTD Direct Evidence: marker/mechanism CTD PMID:16639733 PMID:22960999 NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
JBrowse link
G ANXA1 annexin A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,393
JBrowse link
G ATM ATM serine/threonine kinase disease_progression IEP Smoke Inhalation Injury; mRNA:increased expression:esophagus (human) RGD PMID:17019709 RGD:150340713 NCBI chr11:108,222,484...108,369,102
Ensembl chr11:108,223,044...108,369,102
JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr17:7,646,627...7,657,770
Ensembl chr17:7,646,627...7,657,770
JBrowse link
G AXIN1 axin 1 disease_progression IEP protein:decreased expression:esophagus (human) RGD PMID:12771989 RGD:150530473 NCBI chr16:287,440...355,226
Ensembl chr16:287,440...352,723
JBrowse link
G AZIN1 antizyme inhibitor 1 IMP RGD PMID:24302582 RGD:14700707 NCBI chr 8:102,826,302...102,864,200
Ensembl chr 8:102,826,111...102,893,864
JBrowse link
G B2M beta-2-microglobulin EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr15:44,711,492...44,718,145
Ensembl chr15:44,711,487...44,718,851
JBrowse link
G BLVRB biliverdin reductase B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr19:40,447,768...40,465,745
Ensembl chr19:40,447,765...40,465,764
JBrowse link
G BMI1 BMI1 proto-oncogene, polycomb ring finger IEP RGD PMID:21165554 RGD:126781701 NCBI chr10:22,321,099...22,331,484
Ensembl chr10:22,321,099...22,331,484
JBrowse link
G BMP6 bone morphogenetic protein 6 IEP protein:increased expression:esophagus RGD PMID:22364398 RGD:7242413 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728
JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP DNA:SNP: :rs799917 (human) RGD PMID:23749772 RGD:126925960 NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP DNA:nonsense mutation: :p.K3326X (human) RGD PMID:21279724 RGD:11344913 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BST2 bone marrow stromal cell antigen 2 disease_progression IEP RGD PMID:26832883 RGD:14398496 NCBI chr19:17,402,939...17,405,630
Ensembl chr19:17,402,939...17,405,630
JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B EXP CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123
JBrowse link
G CA1 carbonic anhydrase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 8:85,327,608...85,378,113
Ensembl chr 8:85,327,608...85,379,014
JBrowse link
G CA2 carbonic anhydrase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
JBrowse link
G CALR calreticulin ameliorates EXP
IMP
CTD Direct Evidence: marker/mechanism
human cells in a mouse model
CTD
RGD
PMID:21517111 PMID:19684620 PMID:23814025 RGD:150521703, RGD:150521679 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G CAPZA1 capping actin protein of muscle Z-line subunit alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:112,619,775...112,671,616
Ensembl chr 1:112,619,805...112,671,616
JBrowse link
G CBX8 chromobox 8 severity IEP mRNA:increased expression:esophagus: RGD PMID:25197352 RGD:9587436 NCBI chr17:79,792,132...79,797,077
Ensembl chr17:79,792,132...79,801,683
JBrowse link
G CCHCR1 coiled-coil alpha-helical rod protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr 6:31,142,439...31,158,209
Ensembl chr 6:31,142,439...31,158,238
JBrowse link
G CCND1 cyclin D1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A EXP CTD Direct Evidence: therapeutic CTD PMID:15375580 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP DNA:SNPs: :rs615552, rs573687 (human) RGD PMID:23361049 RGD:7248756 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CFL1 cofilin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr11:65,854,673...65,858,180
Ensembl chr11:65,823,022...65,862,026
JBrowse link
G CHRNA5 cholinergic receptor nicotinic alpha 5 subunit susceptibility IAGP DNA:SNP: :rs667282(human) RGD PMID:23844051 RGD:150524358 NCBI chr15:78,565,520...78,595,269
Ensembl chr15:78,565,520...78,595,269
JBrowse link
G CLIC1 chloride intracellular channel 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 6:31,730,581...31,737,318
Ensembl chr 6:31,730,581...31,739,763
JBrowse link
G CLPTM1L CLPTM1 like susceptibility
no_association
IAGP
IEP
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 chr 5:1,317,752...1,345,099
Ensembl chr 5:1,317,752...1,345,099
JBrowse link
G CRABP1 cellular retinoic acid binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17438526 NCBI chr15:78,340,353...78,348,225
Ensembl chr15:78,340,353...78,348,225
JBrowse link
G CREBBP CREB binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr16:3,725,054...3,880,727
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CSF1R colony stimulating factor 1 receptor HEP mRNA:decreased expression:esophagus squamous epithelium (human) RGD PMID:32038997 RGD:150524298 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
JBrowse link
G CSTB cystatin B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330
JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Esophageal Squamous Cell Carcinoma ClinVar PMID:25157968 PMID:26619011 NCBI chr 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 severity IEP mRNA:increased expression:esophagus (human) RGD PMID:31423201 RGD:150520019 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,541...73,743,716
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP RGD PMID:11860825 RGD:14700943 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO protein:increased expression:esophagus (rat) RGD PMID:18618592 RGD:7829715 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
JBrowse link
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr 2:72,129,238...72,147,862
Ensembl chr 2:72,129,238...72,147,862
JBrowse link
G CYP2A6 cytochrome P450 family 2 subfamily A member 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11241319 NCBI chr19:40,843,541...40,850,447
Ensembl chr19:40,843,541...40,850,447
JBrowse link
G DCC DCC netrin 1 receptor IAGP DNA:deletions:multiple (human) RGD PMID:8187090 RGD:734879 NCBI chr18:52,340,172...53,535,899
Ensembl chr18:52,340,197...53,535,903
JBrowse link
G DIDO1 death inducer-obliterator 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr20:62,877,743...62,937,933
Ensembl chr20:62,877,738...62,937,952
JBrowse link
G DNMT3B DNA methyltransferase 3 beta disease_progression IEP protein:increased expression:nucleus: RGD PMID:22213175 RGD:9589085 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,356
JBrowse link
G EGFR epidermal growth factor receptor severity IEP
EXP
IAGP
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 chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 disease_progression IEP protein:increased expression:esophagus:
protein:increased expression:esophagus mucosa:
RGD PMID:24649311 PMID:24805087 RGD:9589143, RGD:9590071 NCBI chr 9:137,619,001...137,836,127
Ensembl chr 9:137,618,992...137,870,016
JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 disease_progression IEP protein:increased expression:esophagus mucosa: RGD PMID:24805087 RGD:9590071 NCBI chr 6:31,879,759...31,897,698
Ensembl chr 6:31,879,759...31,897,687
JBrowse link
G EP300 E1A binding protein p300 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17965222 PMID:25151357 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 susceptibility
disease_progression
IAGP
IEP
DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human)
protein:altered localization:nucleus
RGD PMID:24916311 PMID:18000820 RGD:126781764, RGD:126781765 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment IEP RGD PMID:23263828 RGD:11252162 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression IEP RGD PMID:25613619 PMID:21165554 RGD:126781697, RGD:126781701 NCBI chr 7:148,807,374...148,884,344
Ensembl chr 7:148,807,257...148,884,321
JBrowse link
G FANCA FA complementation group A IAGP DNA:missense mutation: :p.S858R (human) RGD PMID:21279724 RGD:11344913 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,737,549...89,816,657
JBrowse link
G FASN fatty acid synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr17:82,078,338...82,098,303
Ensembl chr17:82,078,338...82,098,294
JBrowse link
G FAT1 FAT atypical cadherin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 4:186,587,789...186,726,696
Ensembl chr 4:186,587,794...186,726,722
JBrowse link
G FAT2 FAT atypical cadherin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 5:151,504,092...151,594,822
Ensembl chr 5:151,504,092...151,591,331
JBrowse link
G FAT3 FAT atypical cadherin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr11:92,224,636...92,896,473
Ensembl chr11:92,224,818...92,896,473
JBrowse link
G FAT4 FAT atypical cadherin 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 4:125,314,918...125,492,932
Ensembl chr 4:125,314,918...125,492,932
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 4:152,320,544...152,536,873
Ensembl chr 4:152,320,544...152,536,092
JBrowse link
G FGFR4 fibroblast growth factor receptor 4 treatment IAGP RGD PMID:25989802 RGD:150520041 NCBI chr 5:177,086,915...177,098,144
Ensembl chr 5:177,086,905...177,098,144
JBrowse link
G FKBP1A FKBP prolyl isomerase 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr20:1,368,978...1,393,054
Ensembl chr20:1,368,977...1,393,164
JBrowse link
G GDI2 GDP dissociation inhibitor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:5,765,222...5,813,434
Ensembl chr10:5,765,223...5,842,132
JBrowse link
G GLO1 glyoxalase I EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 6:38,675,925...38,703,145
Ensembl chr 6:38,675,925...38,703,145
JBrowse link
G GSTM1 glutathione S-transferase mu 1 no_association IAGP RGD PMID:11860825 PMID:17916905 PMID:25432134 RGD:14700943, RGD:14700982, RGD:14700948 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTO1 glutathione S-transferase omega 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr10:104,254,173...104,267,455
Ensembl chr10:104,235,356...104,267,459
JBrowse link
G GSTP1 glutathione S-transferase pi 1 IAGP DNA:polymorphism: :p.I105V (human) RGD PMID:17916905 RGD:14700982 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G GSTT1 glutathione S-transferase theta 1 IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17173682 PMID:25432134 PMID:17916905 RGD:14700948, RGD:14700982
G H19 H19 imprinted maternally expressed transcript EXP CTD Direct Evidence: marker/mechanism CTD PMID:32739445 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,171...2,001,470
JBrowse link
G H2BC14 H2B clustered histone 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 6:27,815,022...27,815,489
Ensembl chr 6:27,815,022...27,815,489
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:17201171 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G HMGB1 high mobility group box 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
JBrowse link
G HMGN5 high mobility group nucleosome binding domain 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28914995 NCBI chr  X:81,113,699...81,201,913
Ensembl chr  X:81,113,699...81,201,913
JBrowse link
G HOXB7 homeobox B7 severity IEP protein:increased expression:esophageal mucosa (human) RGD PMID:26076456 RGD:10402177 NCBI chr17:48,607,232...48,611,017
Ensembl chr17:48,607,232...48,633,572
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 severity IMP human cells in mouse model RGD PMID:32367071 RGD:149735568 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
JBrowse link
G JAK2 Janus kinase 2 severity IEP protein:increased phosphorylation:esophagus squamous epithelium (human) RGD PMID:32158193 RGD:127285669 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
JBrowse link
G KAT2B lysine acetyltransferase 2B IEP mRNA:decreased expression:esophagus (human) RGD PMID:19525977 RGD:9590307 NCBI chr 3:20,040,407...20,154,404
Ensembl chr 3:20,040,446...20,154,404
JBrowse link
G KDM4C lysine demethylase 4C severity
susceptibility
IEP
IAGP
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 9:6,720,863...7,175,648
Ensembl chr 9:6,720,863...7,175,648
JBrowse link
G KDM5B lysine demethylase 5B severity IEP protein:increased expression:esophageal mucosa, cytoplasm (human) RGD PMID:22534467 RGD:9587776 NCBI chr 1:202,724,495...202,809,470
Ensembl chr 1:202,724,495...202,808,487
JBrowse link
G KDM6A lysine demethylase 6A ameliorates IAGP
IEP
EXP
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:44,873,182...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KMT2C lysine methyltransferase 2C IAGP
EXP
DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25151357 PMID:25151357 RGD:9588233 NCBI chr 7:152,134,925...152,436,642
Ensembl chr 7:152,134,922...152,436,644
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP
IEP
EXP
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 chr12:49,018,975...49,060,884
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G KRT13 keratin 13 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:41,500,981...41,505,612
Ensembl chr17:41,500,981...41,505,705
JBrowse link
G KRT14 keratin 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G KRT16 keratin 16 ISO RGD PMID:8950218 RGD:633113 NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899
JBrowse link
G KRT17 keratin 17 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842
JBrowse link
G KRT19 keratin 19 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:41,523,617...41,528,308
Ensembl chr17:41,523,617...41,528,308
JBrowse link
G LOXL2 lysyl oxidase like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24716982 NCBI chr 8:23,296,897...23,404,120
Ensembl chr 8:23,296,897...23,425,328
JBrowse link
G LTA lymphotoxin alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr 6:31,560,550...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G LZTS1 leucine zipper tumor suppressor 1 IAGP ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar PMID:10097140 NCBI chr 8:20,246,165...20,303,963
Ensembl chr 8:20,246,165...20,303,963
JBrowse link
G MAD2L1 mitotic arrest deficient 2 like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr 4:120,055,623...120,066,848
Ensembl chr 4:120,055,623...120,066,858
JBrowse link
G MALAT1 metastasis associated lung adenocarcinoma transcript 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25538231 NCBI chr11:65,497,738...65,506,516
Ensembl chr11:65,497,688...65,506,516
JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 sexual_dimorphism IAGP DNA:missense mutation, SNP:CDS, exon 14, 3'-UTR: (rs702689,rs702688) (human) RGD PMID:32753933 RGD:150573717 NCBI chr 5:56,815,543...56,896,152
Ensembl chr 5:56,815,549...56,896,152
JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase susceptibility IAGP 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 3:129,430,947...129,440,029
Ensembl chr 3:129,430,947...129,440,179
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase disease_progression EXP
IDA
CTD Direct Evidence: marker/mechanism
DNA, protein:hypermethylation, decreased expression:promoter, esophagus
CTD
RGD
PMID:25520135 PMID:21674174 RGD:126790574 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
JBrowse link
G MIR217 microRNA 217 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25538231 NCBI chr 2:55,982,967...55,983,076
Ensembl chr 2:55,982,967...55,983,076
JBrowse link
G MIR423 microRNA 423 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24205249 NCBI chr17:30,117,079...30,117,172
Ensembl chr17:30,117,079...30,117,172
JBrowse link
G MIR494 microRNA 494 IEP mRNA:decreased expression:esophagus RGD PMID:25480402 RGD:150530497 NCBI chr14:101,029,634...101,029,714
Ensembl chr14:101,029,634...101,029,714
JBrowse link
G MLH1 mutL homolog 1 disease_progression IDA DNA, protein:hypermethylation, decreased expression:promoter, esophagus RGD PMID:21674174 RGD:126790574 NCBI chr 3:36,993,487...37,050,846
Ensembl chr 3:36,993,350...37,050,846
JBrowse link
G MSH2 mutS homolog 2 disease_progression IDA 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 chr 2:47,403,067...47,634,501
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
G MT1X metallothionein 1X ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr16:56,682,470...56,684,196
Ensembl chr16:56,682,470...56,684,196
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,227,595...177,392,697
JBrowse link
G NOTCH1 notch receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G NOTCH2 notch receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
JBrowse link
G NOTCH3 notch receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G PFN1 profilin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061
JBrowse link
G PLCE1 phospholipase C epsilon 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20729852 PMID:20729853 NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823
JBrowse link
G PRDX1 peroxiredoxin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 disease_progression IEP RGD PMID:19492245 RGD:6482249 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,859,851
JBrowse link
G PSME1 proteasome activator subunit 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr14:24,136,194...24,138,962
Ensembl chr14:24,136,163...24,138,967
JBrowse link
G PSME2 proteasome activator subunit 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr14:24,143,365...24,146,646
Ensembl chr14:24,143,362...24,147,570
JBrowse link
G PTCH1 patched 1 disease_progression IEP RGD PMID:16475698 RGD:150523841 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15756444 PMID:16543248 PMID:18197933 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G PTPRT protein tyrosine phosphatase receptor type T susceptibility IAGP DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human) RGD PMID:25967969 RGD:150520191 NCBI chr20:42,029,959...43,189,906
Ensembl chr20:42,072,752...43,189,970
JBrowse link
G RB1 RB transcriptional corepressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RNF6 ring finger protein 6 IAGP ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar PMID:12154016 NCBI chr13:26,132,115...26,223,085
Ensembl chr13:26,132,115...26,222,314
JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP DNA:SNP: :rs2014300 (human) RGD PMID:30666517 RGD:126775149 NCBI chr21:34,787,801...35,049,334
Ensembl chr21:34,787,801...36,004,667
JBrowse link
G RUNX2 RUNX family transcription factor 2 IEP mRNA:increased expression:esophagus mucosa RGD PMID:18500170 RGD:126779568 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
G RUNX3 RUNX family transcription factor 3 disease_progression IEP mRNA:decreased expression:esophagus mucosa RGD PMID:18500170 RGD:126779568 NCBI chr 1:24,899,511...24,965,158
Ensembl chr 1:24,899,511...24,965,121
JBrowse link
G SALL4 spalt like transcription factor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G SERPINB3 serpin family B member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr18:63,655,197...63,661,893
Ensembl chr18:63,655,197...63,661,893
JBrowse link
G SFN stratifin EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:26,863,149...26,864,456
Ensembl chr 1:26,863,149...26,864,456
JBrowse link
G SLC39A6 solute carrier family 39 member 6 EXP CTD Direct Evidence: therapeutic CTD PMID:23644492 NCBI chr18:36,108,531...36,129,340
Ensembl chr18:36,108,531...36,129,385
JBrowse link
G SLC52A3 solute carrier family 52 member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20729853 NCBI chr20:760,080...775,985
Ensembl chr20:760,080...776,015
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 severity
treatment
IEP
ISO
mRNA:decreased expression:esophagus RGD PMID:21385099 PMID:31728180 PMID:28233302 RGD:150573691, RGD:150573815, RGD:150573812 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18167182 PMID:21517111 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SOX2 SRY-box transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19801978 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
JBrowse link
G SULT1A1 sulfotransferase family 1A member 1 IAGP DNA:SNP:exon:p.R213H, 638G>A (human) RGD PMID:12455060 RGD:1581448 NCBI chr16:28,605,258...28,623,395
Ensembl chr16:28,603,944...28,623,625
JBrowse link
G TAGLN transgelin EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr11:117,199,294...117,207,465
Ensembl chr11:117,199,370...117,207,464
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member IEP protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member IEP protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
JBrowse link
G TCN2 transcobalamin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr22:30,607,174...30,627,271
Ensembl chr22:30,607,003...30,627,271
JBrowse link
G TERT telomerase reverse transcriptase susceptibility
no_association
IAGP DNA:SNPs: : rs2853691,rs2736100(human)
DNA:SNP: :rs2736098(human)
RGD PMID:26716642 PMID:25007268 RGD:11572962, RGD:150530488 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 severity IEP
IAGP
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 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
JBrowse link
G TET3 tet methylcytosine dioxygenase 3 IEP mRNA:decreased expression:esophagus squamous epithelium (human) RGD PMID:27050164 RGD:150429668 NCBI chr 2:73,982,036...74,135,394
Ensembl chr 2:73,984,910...74,108,176
JBrowse link
G TNFAIP8 TNF alpha induced protein 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21969086 NCBI chr 5:119,268,759...119,399,688
Ensembl chr 5:119,268,692...119,399,688
JBrowse link
G TNXB tenascin XB EXP CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334
JBrowse link
G TP53 tumor protein p53 IAGP
EXP
ISO
DNA:misssense mutation: :p.R72P (rs1042522) (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16543248 PMID:25151357 PMID:28789369 RGD:14995932 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TPI1 triosephosphate isomerase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr12:6,866,834...6,870,948
Ensembl chr12:6,867,119...6,870,948
JBrowse link
G TPM1 tropomyosin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr15:63,042,698...63,071,915
Ensembl chr15:63,042,632...63,071,915
JBrowse link
G TPM2 tropomyosin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
JBrowse link
G TXNDC17 thioredoxin domain containing 17 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:6,641,060...6,644,541
Ensembl chr17:6,640,985...6,644,541
JBrowse link
G TYMP thymidine phosphorylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:11641616 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
JBrowse link
G VENTX VENT homeobox EXP CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr10:133,237,855...133,241,928
Ensembl chr10:133,237,855...133,241,928
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 disease_progression IEP RGD PMID:24626331 RGD:21081532 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
JBrowse link
G WWOX WW domain containing oxidoreductase IAGP
EXP
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 chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
JBrowse link
G XRCC1 X-ray repair cross complementing 1 treatment EXP
IAGP
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 chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
JBrowse link
G ZCCHC12 zinc finger CCHC-type containing 12 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr  X:118,823,824...118,826,968
Ensembl chr  X:118,823,824...118,826,968
JBrowse link
familial adenomatous polyposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17942926 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G APC APC regulator of WNT signaling pathway TAS
IAGP
EXP
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: Adenomatous colonic polyposis
ClinVar Annotator: match by term: Familial adenomatous polyposis
ClinVar Annotator: match by term: Familial adenomatous polyposis 1
CTD Direct Evidence: marker/mechanism
DNA:point mutation:CDS:p.K1137X (3409A>T) (rat)
ClinVar
CTD
RGD
PMID:1316610 PMID:1319115 PMID:1324223 PMID:1338764 PMID:1338904 More... RGD:2293188, RGD:1601201, RGD:1331525 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G CD44 CD44 molecule (Indian blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:28255344 NCBI chr11:35,139,168...35,232,402
Ensembl chr11:35,138,882...35,232,402
JBrowse link
G CSF1R colony stimulating factor 1 receptor severity ISO DNA:SNPs,haplotype:promoter:multiple (pig) RGD PMID:32717306 RGD:150524307 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
JBrowse link
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16885356 NCBI chr10:93,073,475...93,077,885
Ensembl chr10:93,073,475...93,077,885
JBrowse link
G EGFR epidermal growth factor receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:25200834 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma IAGP ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr 1:44,850,522...44,986,641
Ensembl chr 1:44,850,522...44,986,722
JBrowse link
G F5 coagulation factor V EXP CTD Direct Evidence: marker/mechanism CTD PMID:25200834 NCBI chr 1:169,511,951...169,586,630
Ensembl chr 1:169,511,951...169,586,588
JBrowse link
G FMO3 flavin containing dimethylaniline monoxygenase 3 EXP CTD Direct Evidence: therapeutic CTD PMID:17559352 NCBI chr 1:171,090,873...171,117,819
Ensembl chr 1:171,090,901...171,117,819
JBrowse link
G GREM1 gremlin 1, DAN family BMP antagonist EXP CTD Direct Evidence: marker/mechanism CTD PMID:22561515 NCBI chr15:32,718,004...32,745,106
Ensembl chr15:32,718,004...32,745,106
JBrowse link
G HDAC2 histone deacetylase 2 treatment ISO RGD PMID:24218540 RGD:9590246 NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308
JBrowse link
G HECTD3 HECT domain E3 ubiquitin protein ligase 3 IAGP ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr 1:45,002,547...45,011,324
Ensembl chr 1:45,002,540...45,011,324
JBrowse link
G HPDL 4-hydroxyphenylpyruvate dioxygenase like IAGP ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr 1:45,326,895...45,328,710
Ensembl chr 1:45,326,895...45,328,710
JBrowse link
G IHH Indian hedgehog signaling molecule IEP RGD PMID:25307863 RGD:11528847 NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25200834 NCBI chr 3:52,812,962...52,830,672
Ensembl chr 3:52,812,962...52,830,688
JBrowse link
G LOC121079956 Sharpr-MPRA regulatory region 14787 IAGP ClinVar Annotator: match by term: Familial multiple polyposis syndrome ClinVar PMID:25941542 NCBI chr 5:112,704,152...112,704,446 JBrowse link
G LRG1 leucine rich alpha-2-glycoprotein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25200834 NCBI chr19:4,536,402...4,540,036
Ensembl chr19:4,536,402...4,540,036
JBrowse link
G MCC MCC regulator of WNT signaling pathway EXP CTD Direct Evidence: marker/mechanism CTD PMID:8071957 NCBI chr 5:113,022,106...113,488,453
Ensembl chr 5:113,022,099...113,488,823
JBrowse link
G MIR155 microRNA 155 IEP miRNA:decreased expression:colon RGD PMID:30072583 RGD:21409749 NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
JBrowse link
G MSH3 mutS homolog 3 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:80,654,652...80,876,815
Ensembl chr 5:80,654,652...80,876,815
JBrowse link
G MUTYH mutY DNA glycosylase IAGP
EXP
ClinVar Annotator: match by term: MYH-associated polyposis
ClinVar Annotator: match by term: APC-Associated Polyposis Disorders
ClinVar Annotator: match by term: Familial multiple polyposis syndrome
ClinVar Annotator: match by term: Familial adenomatous polyposis
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 1:45,329,242...45,340,447
Ensembl chr 1:45,329,163...45,340,893
JBrowse link
G NTHL1 nth like DNA glycosylase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25938944 NCBI chr16:2,039,820...2,047,834
Ensembl chr16:2,039,815...2,047,866
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:50,384,291...50,418,018
Ensembl chr19:50,384,204...50,418,018
JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit IAGP ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis ClinVar PMID:20951805 PMID:21157497 PMID:22980975 PMID:23636398 PMID:24033266 More... NCBI chr12:132,623,758...132,687,519
Ensembl chr12:132,623,753...132,687,376
JBrowse link
G PTCH2 patched 2 IAGP ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17942926 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G SOD2 superoxide dismutase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12907644 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TOE1 target of EGR1, exonuclease IAGP ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:9536098 PMID:12056405 PMID:14618256 PMID:17576681 PMID:18271935 More... NCBI chr 1:45,339,751...45,343,973
Ensembl chr 1:45,340,052...45,343,973
JBrowse link
G UROD uroporphyrinogen decarboxylase IAGP ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr 1:45,012,254...45,015,575
Ensembl chr 1:45,010,950...45,015,575
JBrowse link
G VDR vitamin D receptor IAGP ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:17970811 PMID:25741868 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G ZSWIM5 zinc finger SWIM-type containing 5 IAGP ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr 1:45,016,399...45,206,605
Ensembl chr 1:45,016,399...45,306,209
JBrowse link
familial adenomatous polyposis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABLIM3 actin binding LIM protein family member 3 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:149,141,493...149,260,542
Ensembl chr 5:149,141,483...149,260,542
JBrowse link
G ACSL6 acyl-CoA synthetase long chain family member 6 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:131,949,973...132,012,068
Ensembl chr 5:131,949,973...132,012,243
JBrowse link
G ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:129,460,281...129,738,683
Ensembl chr 5:129,460,281...129,738,683
JBrowse link
G ADGRV1 adhesion G protein-coupled receptor V1 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:90,558,796...91,164,437
Ensembl chr 5:90,529,344...91,164,437
JBrowse link
G ADRB2 adrenoceptor beta 2 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
JBrowse link
G AFAP1L1 actin filament associated protein 1 like 1 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:149,271,859...149,343,637
Ensembl chr 5:149,271,859...149,343,637
JBrowse link
G AFF4 AF4/FMR2 family member 4 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:132,875,381...132,963,655
Ensembl chr 5:132,875,395...132,963,634
JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:126,541,841...126,595,219
Ensembl chr 5:126,531,200...126,595,362
JBrowse link
G ANKHD1 ankyrin repeat and KH domain containing 1 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:140,401,833...140,539,849
Ensembl chr 5:140,401,814...140,539,856
JBrowse link
G ANKHD1-EIF4EBP3 ANKHD1-EIF4EBP3 readthrough IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:140,401,833...140,549,576
Ensembl chr 5:140,401,908...140,549,569
JBrowse link
G ANXA6 annexin A6 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:151,100,706...151,157,779
Ensembl chr 5:151,100,706...151,157,785
JBrowse link
G AP3S1 adaptor related protein complex 3 subunit sigma 1 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:115,841,606...115,914,081
Ensembl chr 5:115,841,592...115,914,081
JBrowse link
G APBB3 amyloid beta precursor protein binding family B member 3 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:140,558,268...140,564,598
Ensembl chr 5:140,558,268...140,564,781
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar
OMIM
PMID:1316610 PMID:1317264 PMID:1319115 PMID:1319838 PMID:1324223 More... NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:141,653,401...141,682,230
Ensembl chr 5:141,653,401...141,682,230
JBrowse link
G ARHGAP26 Rho GTPase activating protein 26 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:142,770,370...143,229,011
Ensembl chr 5:142,770,377...143,229,011
JBrowse link
G ARHGEF37 Rho guanine nucleotide exchange factor 37 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:149,552,057...149,634,968
Ensembl chr 5:149,551,947...149,634,968
JBrowse link
G ARL14EPL ADP ribosylation factor like GTPase 14 effector protein like IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:116,032,472...116,059,489
Ensembl chr 5:116,032,324...116,060,118
JBrowse link
G ARRDC3 arrestin domain containing 3 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:91,368,631...91,383,332
Ensembl chr 5:91,368,631...91,383,317
JBrowse link
G ARSI arylsulfatase family member I IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:150,296,343...150,302,905
Ensembl chr 5:150,296,343...150,339,307
JBrowse link
G ARSK arylsulfatase family member K IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:95,555,101...95,605,102
Ensembl chr 5:95,555,101...95,605,102
JBrowse link
G ATG12 autophagy related 12 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:115,828,200...115,841,565
Ensembl chr 5:115,828,200...115,841,837
JBrowse link
G ATOX1 antioxidant 1 copper chaperone IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:151,742,822...151,758,631
Ensembl chr 5:151,742,316...151,772,532
JBrowse link
G BRD8 bromodomain containing 8 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:138,139,770...138,178,630
Ensembl chr 5:138,139,770...138,178,953
JBrowse link
G C5orf15 chromosome 5 open reading frame 15 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:133,955,510...133,968,625
Ensembl chr 5:133,955,510...133,968,674
JBrowse link
G C5orf24 chromosome 5 open reading frame 24 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:134,833,603...134,859,735
Ensembl chr 5:134,845,680...134,859,735
JBrowse link
G C5orf46 chromosome 5 open reading frame 46 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:147,850,463...147,906,594
Ensembl chr 5:147,880,726...147,906,538
JBrowse link
G C5orf63 chromosome 5 open reading frame 63 IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:127,042,562...127,073,502
Ensembl chr 5:127,045,235...127,073,506
JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha IAGP ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093