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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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



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ACTH-secreting pituitary adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PITUITARY ADENOMA 4, ACTH-SECRETING
CTD
ClinVar
PMID:17360484 PMID:18381572 PMID:19366855 PMID:20506337 PMID:20530095 More... NCBI chr18:49,986,582...49,992,756
Ensembl chr18:49,986,587...49,992,676
JBrowse link
G AVPR1B arginine vasopressin receptor 1B ISO RGD PMID:23884782 RGD:14700670 NCBI chr38:2,440,574...2,446,037
Ensembl chr38:2,440,615...2,446,037
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16195406 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G USP8 ubiquitin specific peptidase 8 ISO OMIM NCBI chr30:16,341,970...16,408,246
Ensembl chr30:16,342,009...16,408,012
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 chr26:16,805,690...16,826,065
Ensembl chr26:16,805,690...16,824,790
JBrowse link
adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG2 ATP binding cassette subfamily G member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21544799 NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674
JBrowse link
G AIP aryl hydrocarbon receptor interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22975028 NCBI chr18:49,986,582...49,992,756
Ensembl chr18:49,986,587...49,992,676
JBrowse link
G ALOX5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18927292 NCBI chr28:2,170,920...2,218,765
Ensembl chr28:2,170,920...2,219,609
JBrowse link
G AMACR alpha-methylacyl-CoA racemase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17684125 NCBI chr 4:73,815,438...73,836,016
Ensembl chr 4:73,815,291...73,867,437
JBrowse link
G APC APC regulator of WNT signaling pathway ISO DNA:frameshift mutations, nonsense mutations:exon:multiple (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9111214 PMID:10383901 PMID:11677205 PMID:12034317 PMID:19092804 More... RGD:2317202 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23416519 PMID:23913004 NCBI chr17:53,828,482...53,847,043
Ensembl chr17:53,813,976...53,847,167
JBrowse link
G ATP2A3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23913004 NCBI chr 9:47,694,494...47,727,017
Ensembl chr 9:47,695,809...47,727,778
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23416519 NCBI chr  X:121,355,217...121,405,245
Ensembl chr  X:121,361,239...121,403,609
JBrowse link
G BCL2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10223192 PMID:10426811 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G BCL2L1 BCL2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10426811 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355
JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD PMID:23913001 PMID:23913004 NCBI chr20:36,189,986...36,488,460
Ensembl chr20:36,191,810...36,613,686
JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10223192 PMID:10965019 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11376689 NCBI chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554
JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 ISO protein:decreased expression: : RGD PMID:24080855 RGD:10401654 NCBI chr10:56,632,801...56,694,872
Ensembl chr10:56,579,899...56,787,187
JBrowse link
G ESR2 estrogen receptor 2 ISO ratio with Esr1;mRNA:decreased expression:thyroid gland (human) RGD PMID:11721176 RGD:8694118 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691
JBrowse link
G GJA1 gap junction protein alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16926031 NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
JBrowse link
G GJB1 gap junction protein beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16926031 NCBI chr  X:55,565,995...55,575,332
Ensembl chr  X:55,573,808...55,574,659
JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1611713 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G INS insulin ISO protein:increased secretion:serum RGD PMID:12917331 RGD:2317273 NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23913001 PMID:23913004 NCBI chr 5:5,736,544...5,760,705
Ensembl chr 5:5,740,176...5,760,866
JBrowse link
G KLF5 Kruppel like factor 5 ISO RGD PMID:14726538 RGD:1304288 NCBI chr22:27,163,179...27,185,241
Ensembl chr22:27,162,397...27,200,871
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8761429 PMID:10545420 PMID:10813127 PMID:25851810 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G MEN1 menin 1 ISO DNA:deletion:exons RGD PMID:12917331 RGD:2317273 NCBI chr18:52,346,747...52,352,884
Ensembl chr18:52,346,933...52,353,340
JBrowse link
G MIR144 microRNA mir-144 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 9:43,031,035...43,031,094
Ensembl chr 9:43,031,035...43,031,094
JBrowse link
G MIR345 microRNA mir-345 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 8:68,592,447...68,592,506 JBrowse link
G MIR425 microRNA mir-425 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr20:40,144,613...40,144,675
Ensembl chr20:40,144,606...40,144,683
JBrowse link
G MIR497 microRNA mir-497 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr 5:32,045,759...32,045,825
Ensembl chr 5:32,045,759...32,045,825
JBrowse link
G MIR502 microRNA mir-502 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25926378 NCBI chr  X:42,785,601...42,785,659
Ensembl chr  X:42,785,587...42,785,666
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17389618 NCBI chr34:6,068,572...6,119,580
Ensembl chr34:6,070,046...6,098,312
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO CTD Direct Evidence: marker/mechanism CTD PMID:12468628 NCBI chr18:45,416,347...45,438,226 JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO protein:increased expression:gallbladder RGD PMID:15100237 RGD:2326070 NCBI chr 5:19,895,587...20,192,334
Ensembl chr 5:19,895,613...20,191,995
JBrowse link
G NF1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
G PRL prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2274009 PMID:12058109 NCBI chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824
JBrowse link
G PTMA prothymosin alpha ISO CTD Direct Evidence: therapeutic CTD PMID:10822126 NCBI chr25:43,563,145...43,567,987
Ensembl chr25:43,562,395...43,675,699
JBrowse link
G SELENOP selenoprotein P ISO CTD Direct Evidence: marker/mechanism CTD PMID:18483336 NCBI chr 4:66,953,060...66,964,162
Ensembl chr 4:66,956,405...66,959,043
JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16963246 NCBI chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr 9:40,992,797...41,038,729
Ensembl chr 9:40,994,825...41,038,645
JBrowse link
G TCN2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17389618 NCBI chr26:23,693,664...23,710,342
Ensembl chr26:23,693,773...23,709,832
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21946351 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17823441 NCBI chr30:16,465,546...16,579,874
Ensembl chr30:16,466,234...16,579,594
JBrowse link
G TSHR thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8413627 NCBI chr 8:53,327,280...53,482,898
Ensembl chr 8:53,326,655...53,482,898
JBrowse link
G TXNRD1 thioredoxin reductase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18483336 NCBI chr10:33,904,065...34,021,549
Ensembl chr10:33,886,343...34,021,696
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16061637 NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323
JBrowse link
Adenomatous Polyps term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:12810952 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G CDX2 caudal type homeobox 2 ISO RGD PMID:9052785 RGD:734757 NCBI chr25:11,701,134...11,707,883
Ensembl chr25:11,700,779...11,707,127
JBrowse link
G SMO smoothened, frizzled class receptor ISO RGD PMID:19427313 RGD:150340551 NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033
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 ISO RGD PMID:29043607 RGD:150429712 NCBI chr38:20,002,984...20,152,930
Ensembl chr38:20,008,057...20,152,275
JBrowse link
G LOC483397 interferon-induced transmembrane protein 1 disease_progression ISO RGD PMID:29043607 RGD:150429712 NCBI chr18:25,494,018...25,495,114 JBrowse link
adrenal cortical adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma ClinVar PMID:23416519 NCBI chr17:53,828,482...53,847,043
Ensembl chr17:53,813,976...53,847,167
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma ClinVar PMID:23416519 NCBI chr  X:121,355,217...121,405,245
Ensembl chr  X:121,361,239...121,403,609
JBrowse link
G CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2 ISO mRNA:increased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr13:36,866,476...36,880,625 JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha ISO associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human) RGD PMID:24855271 RGD:13515122 NCBI chr20:48,416,730...48,425,237
Ensembl chr20:48,409,045...48,426,669
JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669941 NCBI chr 6:63,615,445...63,729,386
Ensembl chr 6:63,618,323...63,730,146
JBrowse link
ameloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
JBrowse link
G SMO smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033
JBrowse link
angiokeratoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLA galactosidase alpha ISO CTD Direct Evidence: therapeutic CTD PMID:19925601 NCBI chr  X:75,311,536...75,320,391
Ensembl chr  X:75,311,536...75,320,249
JBrowse link
G NAGA alpha-N-acetylgalactosaminidase ISO Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chr10:23,303,950...23,312,409
Ensembl chr10:23,304,354...23,396,068
JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKIB1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chr14:17,835,582...18,007,077
Ensembl chr14:17,837,117...18,004,106
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr14:17,836,513...17,872,514
Ensembl chr14:17,832,625...17,872,190
JBrowse link
angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OGG1 8-oxoguanine DNA glycosylase no_association ISO associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human)
associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney
associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human)
RGD PMID:17932460 PMID:19265534 RGD:8657154 RGD:8657155 NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264
JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G TSC2 TSC complex subunit 2 ISO associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney RGD PMID:19265534 RGD:8657154 NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960
JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9D2 B9 domain containing 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709
JBrowse link
G CD8A CD8a molecule ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr17:38,396,022...38,400,508
Ensembl chr17:38,369,414...38,400,508
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G FOXP3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758
JBrowse link
G IL10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL12B interleukin 12B treatment ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:40400714 RGD:7829774 NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228
JBrowse link
G IL2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G IL21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266
JBrowse link
G IL4 interleukin 4 treatment ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:40400714 RGD:7829774 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G IL6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G KLRK1 killer cell lectin like receptor K1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 treatment ISO mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr28:323,361...410,367
Ensembl chr28:368,513...406,401
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr23:7,901,578...7,905,274
Ensembl chr23:7,901,250...7,904,534
JBrowse link
G NCR1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620
JBrowse link
G PDCD1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr27:38,084,976...38,101,552
Ensembl chr27:38,084,980...38,101,937
JBrowse link
G SERPINF1 serpin family F member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
JBrowse link
G TLR3 toll like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr16:44,617,012...44,633,591
Ensembl chr16:44,550,846...44,653,247
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TLR7 toll like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:9,331,243...9,360,461
Ensembl chr  X:9,314,815...9,359,603
JBrowse link
G TLR8 toll like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:9,381,159...9,399,938 JBrowse link
G TLR9 toll like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114
JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:56,394,559...56,397,502
Ensembl chr 5:56,394,659...56,397,741
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:8386093 PMID:22768235 RGD:12859285 RGD:12880017 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G ACKR1 atypical chemokine receptor 1 ISO RGD PMID:24429330 RGD:9681736 NCBI chr38:22,762,584...22,765,330
Ensembl chr38:22,758,013...22,763,958
JBrowse link
G ANGPT2 angiopoietin 2 ISO mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chr16:58,404,049...58,458,344
Ensembl chr16:58,405,259...58,457,701
JBrowse link
G ARRB1 arrestin beta 1 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr21:23,261,020...23,304,448
Ensembl chr21:23,235,711...23,297,786
JBrowse link
G ARRB2 arrestin beta 2 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr 5:31,831,208...31,838,875
Ensembl chr 5:31,829,864...31,839,454
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 chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G DES desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985
JBrowse link
G FGF2 fibroblast growth factor 2 ISO RGD PMID:10541235 RGD:8655590 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO protein:increased expression:ileal vein RGD PMID:17398390 PMID:23924957 RGD:13204800 RGD:1642040 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:17398390 PMID:23924957 RGD:13204800 RGD:1642040 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chr20:6,399,522...6,405,089
Ensembl chr20:6,399,522...6,405,089
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:brain cortex, brain dura mater: RGD PMID:10541235 PMID:24626343 RGD:8551823 RGD:8655590 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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 chr27:3,075,373...3,090,549
Ensembl chr27:3,076,124...3,092,469
JBrowse link
G ENG endoglin susceptibility ISO associated with Telangiectasia, Hereditary Hemorrhagic; RGD PMID:8728706 PMID:24520391 RGD:11041184 RGD:11041564 NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064
JBrowse link
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Arteriovenous malformation ClinVar PMID:25741868 PMID:28687708 PMID:30578106 PMID:30760892 NCBI chr 6:8,925,303...8,943,284
Ensembl chr 6:8,924,686...8,942,324
JBrowse link
G GLMN glomulin, FKBP associated protein ISO glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chr 6:56,631,186...56,678,397
Ensembl chr 6:56,644,456...56,678,399
JBrowse link
G MAP2 microtubule associated protein 2 ISO protein:decreased expression:hippocampus RGD PMID:20873448 RGD:6483324 NCBI chr37:17,316,899...17,611,360
Ensembl chr37:17,466,678...17,607,803
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:16720380 RGD:1582655 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G RASA1 RAS p21 protein activator 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:14639529 PMID:15917201 RGD:1581296 NCBI chr 3:21,068,182...21,177,288
Ensembl chr 3:21,054,930...21,176,757
JBrowse link
G TEK TEK receptor tyrosine kinase susceptibility ISO DNA:missense mutation: :p.R849W RGD PMID:8980225 RGD:1578533 NCBI chr11:45,278,375...45,377,300
Ensembl chr11:45,278,891...45,409,093
JBrowse link
arteriovenous malformations of the brain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 6:39,510,129...39,533,129
Ensembl chr 6:39,510,121...39,533,753
JBrowse link
G CDH2 cadherin 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:60,736,760...60,950,477
Ensembl chr 7:60,736,760...60,951,034
JBrowse link
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G ENG endoglin disease_progression ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation
DNA:polymorphism: : 207G>A(human)
RGD
ClinVar
PMID:16179574 PMID:24520391 PMID:24876084 PMID:25741868 RGD:11041171 RGD:11041564 RGD:1580962 NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621
JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chr19:29,128,401...29,383,324
Ensembl chr19:29,130,227...29,383,658
JBrowse link
G IL17RD interleukin 17 receptor D ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053 PMID:25741868 NCBI chr20:33,240,728...33,306,727
Ensembl chr20:33,240,767...33,303,404
JBrowse link
G IL6 interleukin 6 ISO OMIM NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO OMIM NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G LEMD3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:7,775,995...7,833,895
Ensembl chr10:7,777,946...7,834,107
JBrowse link
G MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:41,088,020...41,276,801
Ensembl chr10:41,089,371...41,276,891
JBrowse link
G NOTCH4 notch receptor 4 ISO RGD PMID:19546852 RGD:6480671 NCBI chr12:1,585,249...1,608,721
Ensembl chr12:1,587,918...1,607,760
JBrowse link
G PDCD10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr34:32,512,109...32,553,524
Ensembl chr34:32,512,112...32,553,445
JBrowse link
G PITPNM3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:30,772,794...30,820,725
Ensembl chr 5:30,754,963...30,819,443
JBrowse link
G PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr29:17,458,098...17,738,069
Ensembl chr29:17,458,281...17,735,170
JBrowse link
G SARS1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 6:42,584,792...42,605,201
Ensembl chr 6:42,584,798...42,605,136
JBrowse link
G SCUBE2 signal peptide, CUB domain and EGF like domain containing 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr21:32,370,361...32,435,608
Ensembl chr21:32,370,913...32,574,588
JBrowse link
G SYN3 synapsin III ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:30,475,134...30,927,758
Ensembl chr10:30,482,870...30,923,257
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:16388189 RGD:1580567 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G ZFYVE16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 3:26,662,750...26,714,184
Ensembl chr 3:26,664,068...26,699,073
JBrowse link
Attenuated Adenomatous Polyposis Coli term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Brain tumor-polyposis syndrome 2 ClinVar PMID:1316610 PMID:1324223 PMID:8990002 PMID:9950360 PMID:11317365 More... NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 ISO ClinVar Annotator: match by term: Adenomatous polyposis coli, attenuated ClinVar PMID:19617566 PMID:20551049 PMID:22461326 PMID:24038392 PMID:24357849 More... NCBI chr11:55,909,368...55,947,791
Ensembl chr11:55,909,252...55,947,788
JBrowse link
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More... NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910
JBrowse link
G PTEN phosphatase and tensin homolog ISO OMIM NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA ClinVar PMID:27604842 PMID:28492532 NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109
JBrowse link
basaloid squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTCH1 patched 1 ISO DNA:missense mutations, nonsense mutations RGD PMID:25395299 RGD:150523793 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
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 ISO DNA:missense mutation:cds:p.V600E (human) RGD PMID:25704541 RGD:11521169 NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
JBrowse link
bladder squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTEN phosphatase and tensin homolog disease_progression ISO associated with schistosomiasis;protein:decreased expression:urothelium (human) RGD PMID:26916953 RGD:127285612 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
Bowen's Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29103775 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
JBrowse link
G CCNE1 cyclin E1 ISO associated with Vulvar Neoplasms;mRNA:increased expression:vulva RGD PMID:17471573 RGD:2289255 NCBI chr 1:121,688,622...121,697,533
Ensembl chr 1:121,688,796...121,697,649
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:skin: RGD PMID:10583111 RGD:8662826 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
G NRF1 nuclear respiratory factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21514422 NCBI chr14:7,085,018...7,218,802
Ensembl chr14:7,085,791...7,193,034
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21514422 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
JBrowse link
G TFAM transcription factor A, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:21514422 NCBI chr 4:10,585,320...10,600,664
Ensembl chr 4:10,585,480...10,598,058
JBrowse link
breast fibroadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT7B Wnt family member 7B ISO mRNA:increased expression:tumor:increased in 10% of malignant neoplasms vs normal tissue and fibroadenomas RGD PMID:8168088 RGD:2291878 NCBI chr10:20,160,916...20,208,786
Ensembl chr10:20,160,206...20,243,160
JBrowse link
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SASH1 SAM and SH3 domain containing 1 ISO OMIM NCBI chr 1:39,221,243...39,478,057
Ensembl chr 1:39,146,020...39,476,914
JBrowse link
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangiomas ClinVar PMID:25741868 NCBI chr 7:64,764,941...64,802,507
Ensembl chr 7:64,760,121...64,802,902
JBrowse link
Capillary Malformation-Arteriovenous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNH cyclin H ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation ClinVar PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18446851 More... NCBI chr 3:21,046,477...21,067,305
Ensembl chr 3:21,046,472...21,178,315
JBrowse link
G LOC100684058 STAM binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr17:49,194,810...49,221,017
Ensembl chr17:49,195,101...49,221,013
JBrowse link
G RASA1 RAS p21 protein activator 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation
DNA:mutations:multiple (human)
CTD
ClinVar
RGD
PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18446851 More... RGD:734495 NCBI chr 3:21,068,182...21,177,288
Ensembl chr 3:21,054,930...21,176,757
JBrowse link
Capillary Malformation-Arteriovenous Malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNH cyclin H ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:14639529 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 More... NCBI chr 3:21,046,477...21,067,305
Ensembl chr 3:21,046,472...21,178,315
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More... NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G RASA1 RAS p21 protein activator 1 ISO OMIM NCBI chr 3:21,068,182...21,177,288
Ensembl chr 3:21,054,930...21,176,757
JBrowse link
Capillary Malformation-Arteriovenous Malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPHB4 EPH receptor B4 ISO OMIM NCBI chr 6:8,925,303...8,943,284
Ensembl chr 6:8,924,686...8,942,324
JBrowse link
G SLC12A9 solute carrier family 12 member 9 ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2
ClinVar PMID:25741868 PMID:28687708 NCBI chr 6:8,898,536...8,908,057
Ensembl chr 6:8,898,520...8,907,997
JBrowse link
Carney Triad term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: 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 chr34:11,935,684...11,965,094
Ensembl chr34:11,935,941...11,965,189
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 More... NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109
JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 More... NCBI chr38:21,162,850...21,200,429
Ensembl chr38:21,162,421...21,200,333
JBrowse link
cavernous hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCM2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:25741868 NCBI chr16:10,347,801...10,392,560
Ensembl chr16:10,347,145...10,394,594
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:10508515 PMID:10545614 PMID:11222804 PMID:12404106 PMID:23595507 More... NCBI chr14:17,836,513...17,872,514
Ensembl chr14:17,832,625...17,872,190
JBrowse link
Central Nervous System Venous Angioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNH cyclin H ISO ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chr 3:21,046,477...21,067,305
Ensembl chr 3:21,046,472...21,178,315
JBrowse link
G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chr 3:21,068,182...21,177,288
Ensembl chr 3:21,054,930...21,176,757
JBrowse link
cerebellar angioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323
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 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr14:17,590,256...17,743,646
Ensembl chr14:17,590,772...17,740,294
JBrowse link
G ANKIB1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr14:17,835,582...18,007,077
Ensembl chr14:17,837,117...18,004,106
JBrowse link
G CCM2 CCM2 scaffold protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD
ClinVar
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532 NCBI chr16:10,347,801...10,392,560
Ensembl chr16:10,347,145...10,394,594
JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr14:17,746,654...17,767,019
Ensembl chr14:17,746,656...17,766,658
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621
JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing susceptibility ISO ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformations 1
RGD
ClinVar
CTD
PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 More... RGD:1358458 RGD:1598379 NCBI chr14:17,836,513...17,872,514
Ensembl chr14:17,832,625...17,872,190
JBrowse link
G LRRD1 leucine rich repeats and death domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr14:17,781,791...17,811,408
Ensembl chr14:17,781,934...17,809,825
JBrowse link
G NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219
JBrowse link
G PDCD10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 More... NCBI chr34:32,512,109...32,553,524
Ensembl chr34:32,512,112...32,553,445
JBrowse link
G PON1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G SERPINI1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr34:32,553,876...32,624,708
Ensembl chr34:32,553,902...32,624,526
JBrowse link
cerebral cavernous malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRIT1 KRIT1 ankyrin repeat containing ISO OMIM NCBI chr14:17,836,513...17,872,514
Ensembl chr14:17,832,625...17,872,190
JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCM2 CCM2 scaffold protein ISO OMIM NCBI chr16:10,347,801...10,392,560
Ensembl chr16:10,347,145...10,394,594
JBrowse link
G NACAD NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr16:10,393,993...10,394,424 JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDCD10 programmed cell death 10 ISO OMIM NCBI chr34:32,512,109...32,553,524
Ensembl chr34:32,512,112...32,553,445
JBrowse link
G SERPINI1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 3 ClinVar PMID:18060436 PMID:20623299 PMID:28492532 NCBI chr34:32,553,876...32,624,708
Ensembl chr34:32,553,902...32,624,526
JBrowse link
cervical squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific disease_progression ISO protein:increased expression:cervix squamous epithelium (human) RGD PMID:28109322 RGD:125097518 NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO protein:increased expression:uterine cervix RGD PMID:17694953 RGD:1643352 NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 disease_progression ISO DNA, protein:amplification, increased expression:uterine cervix, nucleus RGD PMID:12208731 RGD:1643529 NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 severity ISO mRNA, protein:increased expression:uterine cervix, nucleus (human) RGD PMID:24708616 RGD:11252104 NCBI chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788
JBrowse link
G CCL22 C-C motif chemokine ligand 22 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 2:59,039,650...59,045,519
Ensembl chr 2:59,040,539...59,045,625
JBrowse link
G CCR4 C-C motif chemokine receptor 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr23:3,844,072...3,847,770
Ensembl chr23:3,844,173...3,845,255
JBrowse link
G CD82 CD82 molecule ISO protein:decreased expression:uterine cervix RGD PMID:15642213 RGD:2289399 NCBI chr18:44,658,414...44,707,897
Ensembl chr18:44,659,180...44,706,768
JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO protein:increased expression:uterine cervix RGD PMID:18565574 RGD:2299119 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
JBrowse link
G FGF7 fibroblast growth factor 7 ISO cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells RGD PMID:17306351 RGD:2289084 NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 no_association ISO DNA:missense mutation:cds: p.S249G (human) RGD PMID:11605053 RGD:38500202 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit disease_progression ISO protein:increased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467
JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit ISO protein:decreased expression:uterine cervix RGD PMID:15514944 RGD:2293757 NCBI chr18:51,366,719...51,374,411
Ensembl chr18:51,368,352...51,373,748
JBrowse link
G FOXP3 forkhead box P3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr  X:42,331,229...42,362,841
Ensembl chr  X:42,344,108...42,350,758
JBrowse link
G MIR21 microRNA mir-21 ISO RNA:increased expression:cervical cell RGD PMID:26010154 RGD:41404529 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
G PDPN podoplanin disease_progression ISO RGD PMID:16528371 RGD:2292237 NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375
JBrowse link
G SMAD3 SMAD family member 3 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr30:31,246,313...31,360,098
Ensembl chr30:31,245,657...31,363,337
JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO protein:decreased expression:uterine cervix RGD PMID:16619570 RGD:2290402 NCBI chr 9:2,521,882...2,533,883
Ensembl chr 9:2,521,882...2,533,989
JBrowse link
G TMBIM6 transmembrane BAX inhibitor motif containing 6 disease_progression ISO mRNA:increased expression:uterine cervix RGD PMID:15337562 RGD:2291959 NCBI chr27:4,921,606...4,944,830
Ensembl chr27:4,921,606...4,944,783
JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 5:56,401,410...56,404,410
Ensembl chr 5:56,401,384...56,404,761
JBrowse link
G TNFSF4 TNF superfamily member 4 severity ISO RGD PMID:28086903 RGD:38455996 NCBI chr 7:25,883,297...25,909,608
Ensembl chr 7:25,883,251...25,906,892
JBrowse link
G TP53 tumor protein p53 disease_progression ISO RGD PMID:17969407 RGD:2298526 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
childhood pilocytic astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPK1 mitogen-activated protein kinase 1 ISO protein:increased expression:brain: RGD PMID:21466243 RGD:13702864 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998
JBrowse link
chondrodysplasia Blomstrand type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTH1R parathyroid hormone 1 receptor ISO OMIM NCBI chr20:41,905,265...41,924,712
Ensembl chr20:41,905,273...41,925,794
JBrowse link
chondroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 PMID:25895133 NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 PMID:25895133 NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496
JBrowse link
G IHH Indian hedgehog signaling molecule ISO RGD PMID:26091072 RGD:12910968 NCBI chr37:25,616,942...25,622,989 JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X (human) RGD PMID:20577567 RGD:11069623 NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
JBrowse link
G SMO smoothened, frizzled class receptor treatment ISO RGD PMID:26091072 RGD:12910968 NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033
JBrowse link
choroid plexus papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP53 tumor protein p53 ISO OMIM NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
CLAPO Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO OMIM NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910
JBrowse link
CLOVES syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO OMIM NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910
JBrowse link
colon adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHKA choline kinase alpha ISO protein:increased expression:colonic mucosa (human) RGD PMID:10363580 RGD:10401945 NCBI chr18:49,717,512...49,784,653
Ensembl chr18:49,745,437...49,781,882
JBrowse link
G IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 ISO RGD PMID:26194191 RGD:11086893 NCBI chr 9:25,199,287...25,240,693
Ensembl chr 9:25,198,805...25,240,578
JBrowse link
G RAC1 Rac family small GTPase 1 ISO RGD PMID:12865273 RGD:13432048 NCBI chr 6:11,726,259...11,758,532
Ensembl chr 6:11,655,494...11,757,216
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 ISO mRNA:decreased expression:colon (human) RGD PMID:29875879 RGD:150429665 NCBI chr32:26,021,745...26,145,109
Ensembl chr32:26,059,693...26,143,536
JBrowse link
colorectal adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Colorectal adenoma ClinVar PMID:2472832 PMID:10811618 PMID:11257105 PMID:11904335 PMID:16454848 More... NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G BIRC7 baculoviral IAP repeat containing 7 ISO RGD PMID:21122381 RGD:13217408 NCBI chr24:46,950,700...46,956,375
Ensembl chr24:46,952,474...46,955,495
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression ISO protein:increased expression:large intestine RGD PMID:30214616 RGD:126779593 NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838
JBrowse link
G F5 coagulation factor V ISO protein:increased expression:serum RGD PMID:30971492 RGD:40907058 NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:8264230 RGD:13210753 NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467
JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO DNA:SNP: :p.A114V (human) RGD PMID:20375710 RGD:7495820 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO RGD PMID:8264230 RGD:13210753 NCBI chr 5:50,966,698...50,968,939 JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 ISO protein:decreased expression:colorectum (human) RGD PMID:28423721 RGD:150429743 NCBI chr 5:36,142,610...36,243,673
Ensembl chr 5:36,118,388...36,241,296
JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO RGD PMID:21122381 PMID:23082052 RGD:13217408 RGD:13217413 NCBI chr28:323,361...410,367
Ensembl chr28:368,513...406,401
JBrowse link
G MIR224 microRNA mir-224 ISO mRNA:increased expression:colorectal mucosa: RGD PMID:25919696 RGD:14398749 NCBI chr  X:119,925,345...119,925,413
Ensembl chr  X:119,925,345...119,925,413
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor ameliorates ISO RGD PMID:30063920 RGD:150519915 NCBI chr23:7,901,578...7,905,274
Ensembl chr23:7,901,250...7,904,534
JBrowse link
G PTCH1 patched 1 ISO RGD PMID:24612059 RGD:150523840 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO RGD PMID:21122381 RGD:13217408 NCBI chr20:5,892,839...5,972,672
Ensembl chr20:5,892,834...5,972,090
JBrowse link
G SMAD4 SMAD family member 4 ISO mRNA:increased expression:mucosa RGD PMID:11480790 RGD:21066339 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum, colorectal mucosa, epithelial cell RGD PMID:23082052 RGD:13217413 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
JBrowse link
corpus callosum lipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCSK7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Lipoma of corpus callosum ClinVar PMID:25741868 NCBI chr 5:16,367,737...16,389,991
Ensembl chr 5:16,367,116...16,390,006
JBrowse link
epidermodysplasia verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC6 transmembrane channel like 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD
ClinVar
PMID:9536098 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 More... NCBI chr 9:3,002,689...3,018,059
Ensembl chr 9:2,805,651...3,016,309
JBrowse link
G TMC8 transmembrane channel like 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 More... NCBI chr 9:2,989,095...2,999,702
Ensembl chr 9:2,990,419...2,999,778
JBrowse link
Epidermodysplasia Verruciformis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC6 transmembrane channel like 6 ISO OMIM NCBI chr 9:3,002,689...3,018,059
Ensembl chr 9:2,805,651...3,016,309
JBrowse link
G TMC8 transmembrane channel like 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532 NCBI chr 9:2,989,095...2,999,702
Ensembl chr 9:2,990,419...2,999,778
JBrowse link
Epidermodysplasia Verruciformis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC8 transmembrane channel like 8 ISO OMIM NCBI chr 9:2,989,095...2,999,702
Ensembl chr 9:2,990,419...2,999,778
JBrowse link
Epidermodysplasia Verruciformis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIB1 calcium and integrin binding 1 ISO OMIM NCBI chr 3:53,184,713...53,209,195
Ensembl chr 3:53,184,714...53,188,224
JBrowse link
Epidermodysplasia Verruciformis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHOH ras homolog family member H susceptibility ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 OMIM
ClinVar
PMID:22850876 NCBI chr 3:72,272,446...72,277,015
Ensembl chr 3:72,276,418...72,276,993
JBrowse link
Epidermodysplasia Verruciformis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL7 interleukin 7 susceptibility ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 OMIM
ClinVar
PMID:25981006 NCBI chr29:26,384,493...26,422,586
Ensembl chr29:26,384,493...26,422,737
JBrowse link
Epithelioid Leiomyoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A5 collagen type IV alpha 5 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chr  X:81,982,119...82,248,428
Ensembl chr  X:81,982,275...82,247,679
JBrowse link
G COL4A6 collagen type IV alpha 6 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17069596 NCBI chr  X:81,690,047...81,981,005
Ensembl chr  X:81,691,417...81,980,703
JBrowse link
esophagus squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC2 ATP binding cassette subfamily C member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21206495 NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740
JBrowse link
G ADCYAP1 adenylate cyclase activating polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 7:67,682,421...67,691,035 JBrowse link
G AJUBA ajuba LIM protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 8:3,272,408...3,302,179
Ensembl chr 8:3,272,405...3,301,708
JBrowse link
G ALDH2 aldehyde dehydrogenase 2 family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:16639733 PMID:22960999 NCBI chr26:9,319,109...9,361,021 JBrowse link
G ANXA1 annexin A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:84,744,159...84,763,011
Ensembl chr 1:84,744,163...84,763,011
JBrowse link
G ATM ATM serine/threonine kinase disease_progression ISO Smoke Inhalation Injury; mRNA:increased expression:esophagus (human) RGD PMID:17019709 RGD:150340713 NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr 5:32,548,591...32,553,911
Ensembl chr 5:32,549,167...32,553,504
JBrowse link
G AXIN1 axin 1 disease_progression ISO protein:decreased expression:esophagus (human) RGD PMID:12771989 RGD:150530473 NCBI chr 6:40,155,797...40,218,330
Ensembl chr 6:40,158,244...40,218,343
JBrowse link
G AZIN1 antizyme inhibitor 1 ISO RGD PMID:24302582 RGD:14700707 NCBI chr13:4,363,996...4,396,069
Ensembl chr13:4,361,340...4,396,040
JBrowse link
G B2M beta-2-microglobulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997
JBrowse link
G BLVRB biliverdin reductase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 1:113,244,484...113,258,170
Ensembl chr 1:113,244,503...113,258,073
JBrowse link
G BMI1 BMI1 proto-oncogene, polycomb ring finger ISO RGD PMID:21165554 RGD:126781701 NCBI chr 2:10,818,232...10,828,473
Ensembl chr 2:10,818,232...10,833,613
JBrowse link
G BMP6 bone morphogenetic protein 6 ISO protein:increased expression:esophagus RGD PMID:22364398 RGD:7242413 NCBI chr35:7,780,763...7,833,095
Ensembl chr35:7,804,231...7,831,845
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO DNA:SNP: :rs799917 (human) RGD PMID:23749772 RGD:126925960 NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO DNA:nonsense mutation: :p.K3326X (human) RGD PMID:21279724 RGD:11344913 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815
JBrowse link
G BST2 bone marrow stromal cell antigen 2 disease_progression ISO RGD PMID:26832883 RGD:14398496 NCBI chr20:45,383,757...45,387,420
Ensembl chr20:45,383,915...45,387,178
JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr30:7,361,982...7,410,162
Ensembl chr30:7,322,912...7,438,052
JBrowse link
G CA1 carbonic anhydrase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr29:31,858,644...31,868,135
Ensembl chr29:31,858,636...31,868,158
JBrowse link
G CA2 carbonic anhydrase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr29:31,959,225...31,975,309
Ensembl chr29:31,935,172...31,980,579
JBrowse link
G CALR calreticulin ameliorates ISO CTD Direct Evidence: marker/mechanism
human cells in a mouse model
CTD
RGD
PMID:19684620 PMID:21517111 PMID:23814025 RGD:150521679 RGD:150521703 NCBI chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245
JBrowse link
G CAPZA1 capping actin protein of muscle Z-line subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr17:62,900,062...62,948,164
Ensembl chr17:62,901,422...62,948,084
JBrowse link
G CBX8 chromobox 8 severity ISO mRNA:increased expression:esophagus: RGD PMID:25197352 RGD:9587436 NCBI chr 9:1,839,701...1,842,355
Ensembl chr 9:1,839,096...1,843,099
JBrowse link
G CCHCR1 coiled-coil alpha-helical rod protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr12:842,093...855,014
Ensembl chr12:837,993...854,978
JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO CTD Direct Evidence: therapeutic CTD PMID:15375580 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
G CDKN2A cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO DNA:SNPs: :rs615552, rs573687 (human) RGD PMID:23361049 RGD:7248756 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CFL1 cofilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr18:51,404,649...51,408,240
Ensembl chr18:51,401,659...51,408,212
JBrowse link
G CHRNA5 cholinergic receptor nicotinic alpha 5 subunit susceptibility ISO DNA:SNP: :rs667282(human) RGD PMID:23844051 RGD:150524358 NCBI chr13:38,343,966...38,355,534
Ensembl chr13:38,346,104...38,355,468
JBrowse link
G CLIC1 chloride intracellular channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr12:1,209,777...1,215,229
Ensembl chr12:1,209,780...1,215,229
JBrowse link
G CLPTM1L CLPTM1 like susceptibility
no_association
ISO DNA:SNP: :rs451360(human)
DNA:SNP: :rs401681(human)
mRNA:increased expression:esophagus
RGD PMID:24386361 PMID:25007268 PMID:25480402 PMID:26716642 RGD:11572962 RGD:150530488 RGD:150530497 RGD:150537098 NCBI chr34:11,263,274...11,277,666
Ensembl chr34:11,263,162...11,277,436
JBrowse link
G CRABP1 cellular retinoic acid binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17438526 NCBI chr 3:58,446,222...58,449,789 JBrowse link
G CREBBP CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176
JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO mRNA:decreased expression:esophagus squamous epithelium (human) RGD PMID:32038997 RGD:150524298 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
JBrowse link
G CSTB cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Esophageal Squamous Cell Carcinoma ClinVar PMID:25157968 PMID:26619011 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 severity ISO mRNA:increased expression:esophagus (human) RGD PMID:31423201 RGD:150520019 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO RGD PMID:11860825 RGD:14700943 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO protein:increased expression:esophagus (rat) RGD PMID:18618592 RGD:7829715 NCBI chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554
JBrowse link
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr17:50,633,397...50,653,882
Ensembl chr17:50,633,413...50,653,894
JBrowse link
G CYP2A7 cytochrome P450, family 2, subfamily A, polypeptide 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11241319 NCBI chr 1:112,900,508...112,906,745
Ensembl chr 1:112,900,403...112,907,076
JBrowse link
G DCC DCC netrin 1 receptor ISO DNA:deletions:multiple (human) RGD PMID:8187090 RGD:734879 NCBI chr 1:21,788,833...22,494,849
Ensembl chr 1:21,793,328...22,494,967
JBrowse link
G DIDO1 death inducer-obliterator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr24:46,691,117...46,735,117
Ensembl chr24:46,692,605...46,724,505
JBrowse link
G DNMT3B DNA methyltransferase 3 beta disease_progression ISO protein:increased expression:nucleus: RGD PMID:22213175 RGD:9589085 NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900
JBrowse link
G EGFR epidermal growth factor receptor severity ISO protein:increased expression:esophagus (human)
ClinVar Annotator: match by term: Esophageal Squamous Cell Carcinoma
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:10385363 PMID:21947696 PMID:23485129 PMID:25157968 RGD:5131486 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 disease_progression ISO protein:increased expression:esophagus mucosa:
protein:increased expression:esophagus:
RGD PMID:24649311 PMID:24805087 RGD:9589143 RGD:9590071 NCBI chr 9:48,031,593...48,110,954
Ensembl chr 9:48,032,709...48,175,828
JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 disease_progression ISO protein:increased expression:esophagus mucosa: RGD PMID:24805087 RGD:9590071 NCBI chr12:1,341,202...1,354,602
Ensembl chr12:1,341,191...1,354,584
JBrowse link
G EP300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17965222 PMID:25151357 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 disease_progression
susceptibility
ISO protein:altered localization:nucleus
DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human)
RGD PMID:18000820 PMID:24916311 RGD:126781764 RGD:126781765 NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment ISO RGD PMID:23263828 RGD:11252162 NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit disease_progression ISO RGD PMID:21165554 PMID:25613619 RGD:126781697 RGD:126781701 NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838
JBrowse link
G FANCA FA complementation group A ISO DNA:missense mutation: :p.S858R (human) RGD PMID:21279724 RGD:11344913 NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823
JBrowse link
G FASN fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr 9:233,105...249,573
Ensembl chr 9:232,963...249,092
JBrowse link
G FAT1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr16:44,113,621...44,241,187
Ensembl chr16:44,128,386...44,241,192
JBrowse link
G FAT2 FAT atypical cadherin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 4:57,743,007...57,823,740
Ensembl chr 4:57,742,651...57,823,740
JBrowse link
G FAT3 FAT atypical cadherin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr21:7,711,304...8,355,609
Ensembl chr21:7,711,995...8,213,266
JBrowse link
G FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195
JBrowse link
G FGFR4 fibroblast growth factor receptor 4 treatment ISO RGD PMID:25989802 RGD:150520041 NCBI chr 4:36,243,689...36,254,636
Ensembl chr 4:36,244,220...36,252,035
JBrowse link
G FKBP1A FKBP prolyl isomerase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr24:19,618,581...19,643,685
Ensembl chr24:19,618,558...19,643,046
JBrowse link
G GDI2 GDP dissociation inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:30,150,769...30,168,957
Ensembl chr 2:30,150,769...30,169,110
JBrowse link
G GLO1 glyoxalase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr12:7,584,141...7,609,615
Ensembl chr12:7,585,531...7,609,550
JBrowse link
G GSTO1 glutathione S-transferase omega 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr28:16,569,421...16,579,239
Ensembl chr28:16,569,066...16,619,880
JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO DNA:polymorphism: :p.I105V (human) RGD PMID:17916905 RGD:14700982 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:17201171 NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
JBrowse link
G HMGB1 high mobility group box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr25:9,431,223...9,558,167
Ensembl chr25:9,431,218...9,558,165
JBrowse link
G HOXB7 homeobox B7 severity ISO protein:increased expression:esophageal mucosa (human) RGD PMID:26076456 RGD:10402177 NCBI chr 9:24,870,037...24,874,517
Ensembl chr 9:24,870,612...24,873,453
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:57,850,870...57,855,607
Ensembl chr 9:57,850,922...57,855,257
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 severity ISO human cells in mouse model RGD PMID:32367071 RGD:149735568 NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496
JBrowse link
G JAK2 Janus kinase 2 severity ISO protein:increased phosphorylation:esophagus squamous epithelium (human) RGD PMID:32158193 RGD:127285669 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997
JBrowse link
G KAT2B lysine acetyltransferase 2B ISO mRNA:decreased expression:esophagus (human) RGD PMID:19525977 RGD:9590307 NCBI chr23:23,166,722...23,242,447
Ensembl chr23:23,168,600...23,233,478
JBrowse link
G KDM4C lysine demethylase 4C severity
susceptibility
ISO protein:increased expression:esophageal epithelium, nucleus (human)
DNA:snp:intron:IVS8-3292G>A (rs1340513) (human)
RGD PMID:15805246 PMID:24224128 RGD:9587746 RGD:9587752 NCBI chr11:27,662,764...28,101,432
Ensembl chr11:27,693,536...28,101,801
JBrowse link
G KDM5B lysine demethylase 5B severity ISO protein:increased expression:esophageal mucosa, cytoplasm (human) RGD PMID:22534467 RGD:9587776 NCBI chr 7:336,452...415,568
Ensembl chr 7:330,705...412,386
JBrowse link
G KDM6A lysine demethylase 6A ameliorates ISO DNA:mutations:multiple (human)
protein:increased expression:esophagus (human)
mRNA:increased expression:esophagus (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:25151357 PMID:29351209 PMID:31804468 RGD:150429739 RGD:150429742 RGD:9588233 NCBI chr  X:38,745,854...38,964,029
Ensembl chr  X:38,745,854...38,959,842
JBrowse link
G KMT2C lysine methyltransferase 2C ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:25151357 RGD:9588233 NCBI chr16:15,962,045...16,117,601
Ensembl chr16:15,963,901...16,158,408
JBrowse link
G KMT2D lysine methyltransferase 2D ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:esophagus
DNA:mutations:multiple (human)
CTD
RGD
PMID:25151357 PMID:29532228 RGD:150521712 RGD:9588233 NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490
JBrowse link
G KRT13 keratin 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:21,261,233...21,265,564
Ensembl chr 9:21,156,045...21,265,564
JBrowse link
G KRT14 keratin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr 9:21,190,672...21,195,060
Ensembl chr 9:21,156,045...21,265,564
JBrowse link
G KRT17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:21,155,007...21,161,407
Ensembl chr 9:21,156,045...21,265,564
JBrowse link
G KRT19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 9:21,240,778...21,245,039 JBrowse link
G LOC100686073 metallothionein-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16543248 NCBI chr 2:59,603,021...59,604,173
Ensembl chr 2:59,603,014...59,604,132
JBrowse link
G LOC476070 mitotic arrest deficient 2 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18691855 NCBI chr18:55,653,677...55,661,017 JBrowse link
G LOXL2 lysyl oxidase like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24716982 NCBI chr25:34,095,858...34,186,775
Ensembl chr25:34,126,335...34,185,969
JBrowse link
G LTA lymphotoxin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
JBrowse link
G LZTS1 leucine zipper tumor suppressor 1 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar PMID:10097140 NCBI chr25:36,764,235...36,814,204
Ensembl chr25:36,744,061...36,811,972
JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 sexual_dimorphism ISO DNA:missense mutation, SNP:CDS, exon 14, 3'-UTR: (rs702689,rs702688) (human) RGD PMID:32753933 RGD:150573717 NCBI chr 2:43,918,210...43,996,817
Ensembl chr 2:43,917,604...43,995,209
JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase susceptibility ISO DNA:snp:cds:p.E346K (rs140693) (human)
DNA:snp:intron:IVS5-140A>G (rs3138355) (human)
RGD PMID:15205355 PMID:25162968 RGD:9588976 RGD:9588980 NCBI chr20:5,716,162...5,725,068
Ensembl chr20:5,716,239...5,724,881
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA, protein:hypermethylation, decreased expression:promoter, esophagus
CTD
RGD
PMID:21674174 PMID:25520135 RGD:126790574 NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380
JBrowse link
G MIR217 microRNA mir-217 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25538231 NCBI chr10:56,754,566...56,754,647
Ensembl chr10:56,754,566...56,754,647
JBrowse link
G MIR423A microRNA mir-423a ISO CTD Direct Evidence: marker/mechanism CTD PMID:24205249 NCBI chr 9:44,155,913...44,155,971 JBrowse link
G MIR494 microRNA mir-494 ISO mRNA:decreased expression:esophagus RGD PMID:25480402 RGD:150530497 NCBI chr 8:69,261,385...69,261,465
Ensembl chr 8:69,261,385...69,261,465
JBrowse link
G MLH1 mutL homolog 1 disease_progression ISO DNA, protein:hypermethylation, decreased expression:promoter, esophagus RGD PMID:21674174 RGD:126790574 NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116
JBrowse link
G MSH2 mutS homolog 2 disease_progression ISO DNA, protein:hypermethylation, decreased expression:promoter, esophagus
DNA, protein:hypermethylation, decreased expression:esophagus
RGD PMID:21674174 PMID:22265839 PMID:24366688 RGD:126790560 RGD:126790573 RGD:126790574 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
JBrowse link
G NFE2L2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524
JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277
JBrowse link
G NOTCH2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857
JBrowse link
G NOTCH3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219
JBrowse link
G PFN1 profilin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 5:31,670,483...31,671,891
Ensembl chr 5:31,670,194...31,671,895
JBrowse link
G PLCE1 phospholipase C epsilon 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729852 PMID:20729853 NCBI chr28:8,209,707...8,484,427
Ensembl chr28:8,210,058...8,481,770
JBrowse link
G PRDX1 peroxiredoxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr15:14,834,009...14,855,665
Ensembl chr15:14,838,652...14,862,971
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 disease_progression ISO RGD PMID:19492245 RGD:6482249 NCBI chr12:2,432,287...2,438,920
Ensembl chr12:2,432,505...2,438,069
JBrowse link
G PSME1 proteasome activator subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 8:4,131,197...4,134,001
Ensembl chr 8:4,131,345...4,134,006
JBrowse link
G PSME2 proteasome activator subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 8:4,137,247...4,141,380
Ensembl chr 8:4,137,247...4,140,706
JBrowse link
G PTCH1 patched 1 disease_progression ISO RGD PMID:16475698 RGD:150523841 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15756444 PMID:16543248 PMID:18197933 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G PTPRT protein tyrosine phosphatase receptor type T susceptibility ISO DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human) RGD PMID:25967969 RGD:150520191 NCBI chr24:29,992,957...30,764,469
Ensembl chr24:30,000,637...30,820,835
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25151357 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
JBrowse link
G RNF6 ring finger protein 6 ISO ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic ClinVar PMID:12154016 NCBI chr25:13,199,201...13,240,347
Ensembl chr25:13,199,397...13,207,497
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO DNA:SNP: :rs2014300 (human) RGD PMID:30666517 RGD:126775149 NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839
JBrowse link
G RUNX2 RUNX family transcription factor 2 ISO mRNA:increased expression:esophagus mucosa RGD PMID:18500170 RGD:126779568 NCBI chr12:13,723,535...13,842,565
Ensembl chr12:13,628,539...13,840,785
Ensembl chr12:13,628,539...13,840,785
JBrowse link
G RUNX3 RUNX family transcription factor 3 disease_progression ISO mRNA:decreased expression:esophagus mucosa RGD PMID:18500170 RGD:126779568
G SALL4 spalt like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr24:37,941,498...37,959,713
Ensembl chr24:37,940,034...38,037,287
JBrowse link
G SFN stratifin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 2:73,268,289...73,269,663
Ensembl chr 2:73,268,791...73,269,537
JBrowse link
G SLC39A6 solute carrier family 39 member 6 ISO CTD Direct Evidence: therapeutic CTD PMID:23644492 NCBI chr 7:54,059,193...54,080,582
Ensembl chr 7:54,059,193...54,080,582
JBrowse link
G SLC52A3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20729853 NCBI chr24:20,127,527...20,141,070
Ensembl chr24:20,127,520...20,156,003
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 severity
treatment
ISO mRNA:decreased expression:esophagus RGD PMID:21385099 PMID:28233302 PMID:31728180 RGD:150573691 RGD:150573812 RGD:150573815 NCBI chr 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18167182 PMID:21517111 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G SOX2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19801978 NCBI chr34:14,853,000...14,855,153 JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25129146 NCBI chr 2:34,783,947...34,792,204
Ensembl chr 2:34,784,232...34,789,072
JBrowse link
G SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 ISO DNA:SNP:exon:p.R213H, 638G>A (human) RGD PMID:12455060 RGD:1581448 NCBI chr 6:18,176,156...18,179,492
Ensembl chr 6:18,176,355...18,179,489
JBrowse link
G TAGLN transgelin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 5:16,390,259...16,395,471
Ensembl chr 5:16,390,573...16,397,207
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO protein:decreased expression:esophagus RGD PMID:19492245 RGD:6482249 NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TCN2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr26:23,693,664...23,710,342
Ensembl chr26:23,693,773...23,709,832
JBrowse link
G TERT telomerase reverse transcriptase no_association
susceptibility
ISO DNA:SNP: :rs2736098(human)
DNA:SNPs: : rs2853691,rs2736100(human)
RGD PMID:25007268 PMID:26716642 RGD:11572962 RGD:150530488 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 severity ISO mRNA:decreased expression:esophagus squamous epithelium (human)
DNA:mutations
associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human)
RGD PMID:26093090 PMID:26873401 PMID:27050164 RGD:11528815 RGD:150429656 RGD:150429668 NCBI chr32:26,021,745...26,145,109
Ensembl chr32:26,059,693...26,143,536
JBrowse link
G TET3 tet methylcytosine dioxygenase 3 ISO mRNA:decreased expression:esophagus squamous epithelium (human) RGD PMID:27050164 RGD:150429668 NCBI chr17:48,976,510...49,083,454
Ensembl chr17:48,981,558...49,082,675
JBrowse link
G TNFAIP8 TNF alpha induced protein 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21969086 NCBI chr11:8,624,106...8,685,389
Ensembl chr11:8,660,557...8,684,374
JBrowse link
G TNXB tenascin XB ISO CTD Direct Evidence: marker/mechanism CTD PMID:29379198 NCBI chr12:1,453,227...1,510,171
Ensembl chr12:1,453,260...1,509,749
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
DNA:misssense mutation: :p.R72P (rs1042522) (human)
CTD
RGD
PMID:16543248 PMID:25151357 PMID:28789369 RGD:14995932 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G TPI1 triosephosphate isomerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr27:38,154,519...38,157,900
Ensembl chr27:38,154,519...38,158,137
JBrowse link
G TPM1 tropomyosin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr30:27,636,407...27,664,907
Ensembl chr30:27,636,283...27,664,442
JBrowse link
G TPM2 tropomyosin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr11:52,212,372...52,219,947
Ensembl chr11:52,212,401...52,219,923
JBrowse link
G TXNDC17 thioredoxin domain containing 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21517111 NCBI chr 5:30,701,673...30,703,742
Ensembl chr 5:30,701,700...30,703,739
JBrowse link
G VENTX VENT homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr28:40,836,688...40,840,145
Ensembl chr28:40,836,403...40,840,127
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 disease_progression ISO RGD PMID:24626331 RGD:21081532 NCBI chr 5:32,574,153...32,586,222
Ensembl chr 5:32,574,134...32,594,333
JBrowse link
G WWOX WW domain containing oxidoreductase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic
esophageal squamous cell carcinoma, OMIM:133239
CTD
ClinVar
RGD
PMID:11956080 PMID:25526675 RGD:1599874 NCBI chr 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406
JBrowse link
G XRCC1 X-ray repair cross complementing 1 treatment ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs:exon 6, exon 9, exon 10:multiple (human)
CTD
RGD
PMID:16639733 PMID:27123143 PMID:28356949 RGD:150530505 RGD:150530634 NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816
JBrowse link
G ZCCHC12 zinc finger CCHC-type containing 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30431698 NCBI chr  X:91,004,777...91,008,019 JBrowse link
familial adenomatous polyposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17942926 NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193
JBrowse link
G APC APC regulator of WNT signaling pathway ISO DNA:point mutation:CDS:p.K1137X (3409A>T) (rat)
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
RGD
ClinVar
CTD
PMID:1316610 PMID:1319115 PMID:1324223 PMID:1338764 PMID:1338904 More... RGD:1601201 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G CD44 CD44 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:28255344 NCBI chr18:32,735,493...32,826,483
Ensembl chr18:32,737,907...32,827,107
JBrowse link
G CSF1R colony stimulating factor 1 receptor severity ISO DNA:SNPs,haplotype:promoter:multiple (pig) RGD PMID:32717306 RGD:150524307 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
JBrowse link
G CYP26A1 cytochrome P450 family 26 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16885356 NCBI chr28:7,423,955...7,432,359
Ensembl chr28:7,428,772...7,432,370
JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25200834 NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr15:15,337,421...15,481,427
Ensembl chr15:15,337,483...15,481,425
JBrowse link
G F5 coagulation factor V ISO CTD Direct Evidence: marker/mechanism CTD PMID:25200834 NCBI chr 7:28,999,481...29,069,603
Ensembl chr 7:28,999,512...29,069,296
JBrowse link
G FMO3 flavin containing dimethylaniline monoxygenase 3 ISO CTD Direct Evidence: therapeutic CTD PMID:17559352 NCBI chr 7:27,720,420...27,745,522
Ensembl chr 7:27,720,420...27,845,626
JBrowse link
G GREM1 gremlin 1, DAN family BMP antagonist ISO CTD Direct Evidence: marker/mechanism CTD PMID:22561515 NCBI chr30:2,219,535...2,231,868
Ensembl chr30:2,222,898...2,225,418
JBrowse link
G HDAC2 histone deacetylase 2 treatment ISO RGD PMID:24218540 RGD:9590246 NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578
JBrowse link
G HECTD3 HECT domain E3 ubiquitin protein ligase 3 ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr15:15,319,264...15,328,034
Ensembl chr15:15,319,259...15,327,085
JBrowse link
G HPDL 4-hydroxyphenylpyruvate dioxygenase like ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr15:15,019,273...15,028,932
Ensembl chr15:15,027,472...15,028,671
JBrowse link
G IHH Indian hedgehog signaling molecule ISO RGD PMID:25307863 RGD:11528847 NCBI chr37:25,616,942...25,622,989 JBrowse link
G ITIH4 inter-alpha-trypsin inhibitor heavy chain 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25200834
G LRG1 leucine rich alpha-2-glycoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25200834 NCBI chr20:55,177,777...55,180,382
Ensembl chr20:55,177,824...55,180,369
JBrowse link
G MCC MCC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:8071957 NCBI chr 4:35,291,297...35,592,388
Ensembl chr 4:35,312,814...35,592,282
JBrowse link
G MIR155 microRNA mir-155 ISO miRNA:decreased expression:colon RGD PMID:30072583 RGD:21409749 NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833
JBrowse link
G MSH3 mutS homolog 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:26,335,788...26,520,633
Ensembl chr 3:26,336,403...26,518,521
JBrowse link
G MUTYH mutY DNA glycosylase ISO CTD Direct Evidence: marker/mechanism
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
ClinVar
RGD
PMID:2084865 PMID:9536098 PMID:9846876 PMID:10612827 PMID:11092888 More... RGD:1600191 NCBI chr15:15,018,345...15,026,539
Ensembl chr15:14,906,543...15,026,539
JBrowse link
G NTHL1 nth like DNA glycosylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938944 NCBI chr 6:38,899,144...38,904,637
Ensembl chr 6:38,899,126...38,905,622
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385
JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis ClinVar PMID:20951805 PMID:21157497 PMID:22980975 PMID:23636398 PMID:24033266 More... NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917
JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr15:15,488,357...15,503,748
Ensembl chr15:15,487,639...15,503,234
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17942926 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12907644 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G TOE1 target of EGR1, exonuclease ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:9536098 PMID:12056405 PMID:14618256 PMID:17576681 PMID:18271935 More... NCBI chr15:15,014,790...15,018,285
Ensembl chr15:15,015,098...15,018,276
JBrowse link
G UROD uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr15:15,313,808...15,317,130
Ensembl chr15:15,312,674...15,320,010
JBrowse link
G VDR vitamin D receptor ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:17970811 PMID:25741868 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
G ZSWIM5 zinc finger SWIM-type containing 5 ISO ClinVar Annotator: match by term: MYH-associated polyposis ClinVar PMID:28492532 NCBI chr15:15,109,965...15,312,935
Ensembl chr15:15,110,030...15,311,045
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 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:59,688,779...59,798,456
Ensembl chr 4:59,690,735...59,798,383
JBrowse link
G ACSL6 acyl-CoA synthetase long chain family member 6 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:20,226,877...20,284,919
Ensembl chr11:20,227,268...20,285,631
JBrowse link
G ADAMTS19 ADAM metallopeptidase with thrombospondin type 1 motif 19 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:18,272,602...18,500,581
Ensembl chr11:18,272,412...18,499,496
JBrowse link
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298
JBrowse link
G AFAP1L1 actin filament associated protein 1 like 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:59,617,759...59,650,194
Ensembl chr 4:59,618,523...59,678,988
JBrowse link
G AFF4 AF4/FMR2 family member 4 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:21,157,790...21,218,750
Ensembl chr11:21,163,398...21,218,190
JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:15,828,581...15,878,556
Ensembl chr11:15,815,936...15,878,516
JBrowse link
G ANKHD1 ankyrin repeat and KH domain containing 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:35,618,287...35,742,050
Ensembl chr 2:35,618,282...35,744,734
JBrowse link
G ANXA6 annexin A6 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:58,091,186...58,140,102
Ensembl chr 4:58,091,251...58,139,372
JBrowse link
G AP3S1 adaptor related protein complex 3 subunit sigma 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:5,543,140...5,611,322
Ensembl chr11:5,543,222...5,610,930
JBrowse link
G APBB3 amyloid beta precursor protein binding family B member 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:35,753,212...35,759,152
Ensembl chr 2:35,753,241...35,759,012
JBrowse link
G APC APC regulator of WNT signaling pathway ISO OMIM NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G ARAP3 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:36,614,799...36,639,281
Ensembl chr 2:36,615,361...36,639,525
JBrowse link
G ARHGAP26 Rho GTPase activating protein 26 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:37,627,448...38,045,589
Ensembl chr 2:37,626,698...38,040,079
JBrowse link
G ARHGEF37 Rho guanine nucleotide exchange factor 37 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:59,357,834...59,413,012
Ensembl chr 4:59,357,822...59,412,752
JBrowse link
G ARL14EPL ADP ribosylation factor like GTPase 14 effector protein like ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:5,776,462...5,784,409
Ensembl chr11:5,776,453...5,783,587
JBrowse link
G ARRDC3 arrestin domain containing 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 3:17,691,631...17,705,507
Ensembl chr 3:17,691,961...17,703,308
JBrowse link
G ARSI arylsulfatase family member I ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:58,788,141...58,793,542
Ensembl chr 4:58,787,283...58,793,542
JBrowse link
G ARSK arylsulfatase family member K ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 3:13,993,008...14,027,527
Ensembl chr 3:13,992,857...14,027,527
JBrowse link
G ATG12 autophagy related 12 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:5,531,062...5,543,034
Ensembl chr11:5,531,759...5,542,743
JBrowse link
G ATOX1 antioxidant 1 copper chaperone ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:57,599,927...57,611,863
Ensembl chr 4:57,600,005...57,611,862
JBrowse link
G BRD8 bromodomain containing 8 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:25,793,375...25,825,868
Ensembl chr11:25,793,668...25,825,726
JBrowse link
G C11H5orf15 chromosome 11 C5orf15 homolog ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:22,179,638...22,193,371
Ensembl chr11:22,180,731...22,193,322
JBrowse link
G C11H5orf24 chromosome 11 C5orf24 homolog ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:22,913,598...22,924,979
Ensembl chr11:22,920,483...22,922,639
JBrowse link
G C11H5orf63 chromosome 11 C5orf63 homolog ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:16,224,495...16,255,252
Ensembl chr11:16,235,346...16,254,833
JBrowse link
G C2H5orf46 chromosome 2 C5orf46 homolog ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:42,158,125...42,171,461
Ensembl chr 2:42,158,801...42,171,893
JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:58,800,818...58,865,830
Ensembl chr 4:58,800,813...58,865,830
JBrowse link
G CAMK4 calcium/calmodulin dependent protein kinase IV ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 3:1,174,975...1,369,640
Ensembl chr 3:1,180,401...1,369,803
JBrowse link
G CAMLG calcium modulating ligand ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:22,818,699...22,829,737
Ensembl chr11:22,818,743...22,829,736
JBrowse link
G CAST calpastatin ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 3:12,920,514...13,031,974
Ensembl chr 3:12,922,453...13,031,959
JBrowse link
G CATSPER3 cation channel sperm associated 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:23,018,770...23,057,945
Ensembl chr11:23,021,663...23,052,820
JBrowse link
G CCDC112 coiled-coil domain containing 112 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:5,025,450...5,052,742
Ensembl chr11:5,025,964...5,166,439
JBrowse link
G CCDC69 coiled-coil domain containing 69 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:58,034,831...58,071,702
Ensembl chr 4:58,033,553...58,069,245
JBrowse link
G CCNH cyclin H ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 3:21,046,477...21,067,305
Ensembl chr 3:21,046,472...21,178,315
JBrowse link
G CD14 CD14 molecule ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:35,790,505...35,792,967 JBrowse link
G CD74 CD74 molecule ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:58,689,745...58,698,421
Ensembl chr 4:58,689,752...58,698,151
JBrowse link
G CDC23 cell division cycle 23 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:25,834,752...25,851,588
Ensembl chr11:25,834,737...25,852,341
JBrowse link
G CDC25C cell division cycle 25C ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:25,904,152...25,940,754
Ensembl chr11:25,904,144...25,935,744
JBrowse link
G CDC42SE2 CDC42 small effector 2 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:19,641,815...19,757,867
Ensembl chr11:19,641,901...19,756,814
JBrowse link
G CDKL3 cyclin dependent kinase like 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:22,416,098...22,524,629
Ensembl chr11:22,432,720...22,522,050
JBrowse link
G CDKN2AIPNL CDKN2A interacting protein N-terminal like ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:22,548,186...22,556,261
Ensembl chr11:22,549,017...22,556,237
JBrowse link
G CDO1 cysteine dioxygenase type 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:5,512,996...5,524,556
Ensembl chr11:5,371,378...5,524,562
JBrowse link
G CDX1 caudal type homeobox 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:58,897,914...58,915,573
Ensembl chr 4:58,897,877...58,915,776
JBrowse link
G CEP120 centrosomal protein 120 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:13,184,590...13,306,975
Ensembl chr11:13,143,672...13,266,151
JBrowse link
G CETN3 centrin 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 3:18,529,198...18,547,195
Ensembl chr 3:18,529,240...18,547,069
JBrowse link
G CHD1 chromodomain helicase DNA binding protein 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 3:11,288,873...11,359,972
Ensembl chr 3:11,288,244...11,359,208
JBrowse link
G CHSY3 chondroitin sulfate synthase 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:18,621,196...18,855,018
Ensembl chr11:18,620,781...18,854,177
JBrowse link
G COMMD10 COMM domain containing 10 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:5,800,880...5,985,775
Ensembl chr11:5,800,928...5,984,924
JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
JBrowse link
G CSF2 colony stimulating factor 2 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959
JBrowse link
G CSNK1A1 casein kinase 1 alpha 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:59,435,530...59,485,591
Ensembl chr 4:59,435,764...59,483,475
JBrowse link
G CSNK1G3 casein kinase 1 gamma 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:13,357,816...13,465,708
Ensembl chr11:13,357,894...13,464,138
JBrowse link
G CTNNA1 catenin alpha 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091
JBrowse link
G CTXN3 cortexin 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:16,728,472...16,750,270 JBrowse link
G CXCL14 C-X-C motif chemokine ligand 14 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:23,598,640...23,606,850
Ensembl chr11:23,599,645...23,606,823
JBrowse link
G CXXC5 CXXC finger protein 5 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:34,903,680...34,939,580
Ensembl chr 2:34,935,858...35,082,085
JBrowse link
G CYSTM1 cysteine rich transmembrane module containing 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:35,391,089...35,434,063
Ensembl chr 2:35,391,154...35,453,194
JBrowse link
G DCP2 decapping mRNA 2 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:35,256,772...35,298,974
Ensembl chr 4:35,256,970...35,299,021
JBrowse link
G DCTN4 dynactin subunit 4 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:58,423,591...58,453,055
Ensembl chr 4:58,423,635...58,450,874
JBrowse link
G DDX46 DEAD-box helicase 46 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:22,834,843...22,906,976
Ensembl chr11:22,833,926...22,905,964
JBrowse link
G DELE1 DAP3 binding cell death enhancer 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:36,865,275...36,880,304
Ensembl chr 2:36,865,289...36,879,840
JBrowse link
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320
JBrowse link
G DMXL1 Dmx like 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:8,435,939...8,563,525
Ensembl chr11:8,436,322...8,561,550
JBrowse link
G DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:34,730,877...34,762,234
Ensembl chr 2:34,733,250...34,762,276
JBrowse link
G DND1 DND microRNA-mediated repression inhibitor 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:35,825,154...35,827,913
Ensembl chr 2:35,825,636...35,827,840
JBrowse link
G DPYSL3 dihydropyrimidinase like 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:41,687,725...41,809,402
Ensembl chr 2:41,690,845...41,802,376
JBrowse link
G DTWD2 DTW domain containing 2 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:8,257,068...8,366,875 JBrowse link
G ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:34,763,814...34,773,491 JBrowse link
G EFNA5 ephrin A5 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 3:4,272,138...4,546,527
Ensembl chr 3:4,272,518...4,542,049
JBrowse link
G EGR1 early growth response 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575
JBrowse link
G EIF4EBP3 eukaryotic translation initiation factor 4E binding protein 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:35,742,811...35,744,749
Ensembl chr 2:35,618,282...35,744,734
JBrowse link
G ELL2 elongation factor for RNA polymerase II 2 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 3:13,673,653...13,746,604
Ensembl chr 3:13,673,785...13,746,316
JBrowse link
G EPB41L4A erythrocyte membrane protein band 4.1 like 4A ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 3:507,516...686,861
Ensembl chr 3:507,069...686,751
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634
JBrowse link
G ERAP2 endoplasmic reticulum aminopeptidase 2 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 3:12,780,084...12,819,795
Ensembl chr 3:12,781,849...12,817,025
JBrowse link
G ETF1 eukaryotic translation termination factor 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:26,078,611...26,110,805
Ensembl chr11:26,080,478...26,110,894
JBrowse link
G FAM114A2 family with sequence similarity 114 member A2 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:55,629,241...55,662,683
Ensembl chr 4:55,633,865...55,661,487
JBrowse link
G FAM13B family with sequence similarity 13 member B ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:25,626,334...25,712,897
Ensembl chr11:25,628,536...25,708,365
JBrowse link
G FAM170A family with sequence similarity 170 member A ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:8,856,527...8,861,726 JBrowse link
G FAM172A family with sequence similarity 172 member A ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 3:15,281,442...15,695,303
Ensembl chr 3:15,281,448...15,694,715
JBrowse link
G FAM174A family with sequence similarity 174 member A ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 3:9,974,049...10,009,405
Ensembl chr 3:9,986,930...10,009,244
JBrowse link
G FAM81B family with sequence similarity 81 member B ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 3:14,116,761...14,171,527
Ensembl chr 3:14,116,773...14,172,051
JBrowse link
G FAT2 FAT atypical cadherin 2 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:57,743,007...57,823,740
Ensembl chr 4:57,742,651...57,823,740
JBrowse link
G FBN2 fibrillin 2 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:17,311,238...17,551,536
Ensembl chr11:17,311,226...17,551,536
JBrowse link
G FBXL17 F-box and leucine rich repeat protein 17 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 3:3,602,105...4,086,182
Ensembl chr 3:3,618,236...4,083,554
JBrowse link
G FBXO38 F-box protein 38 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:60,360,543...60,416,727
Ensembl chr 4:60,320,648...60,417,205
JBrowse link
G FCHSD1 FCH and double SH3 domains 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:36,601,969...36,612,262
Ensembl chr 2:36,602,460...36,612,199
JBrowse link
G FEM1C fem-1 homolog C ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:5,248,564...5,271,370
Ensembl chr11:5,180,798...5,271,891
JBrowse link
G FER FER tyrosine kinase ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 3:2,863,804...3,295,999
Ensembl chr 3:2,867,726...3,295,999
JBrowse link
G FGF1 fibroblast growth factor 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:37,467,431...37,554,770
Ensembl chr 2:37,470,985...37,554,619
JBrowse link
G FNIP1 folliculin interacting protein 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:19,979,294...20,134,341
Ensembl chr11:19,979,163...20,134,229
JBrowse link
G FSTL4 follistatin like 4 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:21,453,982...21,850,969
Ensembl chr11:21,458,678...21,856,547
JBrowse link
G G3BP1 G3BP stress granule assembly factor 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:57,541,627...57,585,375
Ensembl chr 4:57,481,908...57,585,241
JBrowse link
G GALNT10 polypeptide N-acetylgalactosaminyltransferase 10 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:55,275,008...55,491,619
Ensembl chr 4:55,277,883...55,491,499
JBrowse link
G GDF9 growth differentiation factor 9 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:21,143,982...21,148,945
Ensembl chr11:21,143,975...21,149,825
JBrowse link
G GFRA3 GDNF family receptor alpha 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:25,881,523...25,897,863
Ensembl chr11:25,882,099...25,897,817
JBrowse link
G GIN1 gypsy retrotransposon integrase 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 3:8,088,719...8,116,461
Ensembl chr 3:8,088,515...8,116,436
JBrowse link
G GLRA1 glycine receptor alpha 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:57,443,094...57,541,494
Ensembl chr 4:57,443,999...57,528,376
JBrowse link
G GLRX glutaredoxin ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 3:13,795,609...13,804,732
Ensembl chr 3:13,795,817...13,803,895
JBrowse link
G GM2A GM2 ganglioside activator ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:58,002,438...58,016,003
Ensembl chr 4:58,003,946...58,015,753
JBrowse link
G GNPDA1 glucosamine-6-phosphate deaminase 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:36,938,682...36,949,657
Ensembl chr 2:36,939,750...36,948,966
JBrowse link
G GPR150 G protein-coupled receptor 150 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532
G GPR151 G protein-coupled receptor 151 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:40,921,953...40,924,699
Ensembl chr 2:40,923,259...40,924,515
JBrowse link
G GPX3 glutathione peroxidase 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010
JBrowse link
G GRAMD2B GRAM domain containing 2B ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:15,673,819...15,784,013
Ensembl chr11:15,661,886...15,783,064
JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:55,801,269...56,103,383
Ensembl chr 4:55,803,296...56,103,669
JBrowse link
G GRPEL2 GrpE like 2, mitochondrial ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:59,603,384...59,614,491
Ensembl chr 4:59,590,167...59,614,584
JBrowse link
G GRXCR2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:40,310,285...40,330,200
Ensembl chr 2:40,315,807...40,328,240
JBrowse link
G HAND1 heart and neural crest derivatives expressed 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:55,231,061...55,234,640
Ensembl chr 4:55,231,481...55,234,265
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583
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G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:35,843,611...35,851,257
Ensembl chr 2:35,843,706...35,850,760
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G HBEGF heparin binding EGF like growth factor ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:35,551,248...35,563,310
Ensembl chr 2:35,551,250...35,563,043
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G HDAC3 histone deacetylase 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:36,583,283...36,598,121
Ensembl chr 2:36,583,283...36,597,682
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G HINT1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:19,551,057...19,555,390 JBrowse link
G HMGXB3 HMG-box containing 3 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:59,010,839...59,055,384
Ensembl chr 4:59,011,783...59,078,892
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G HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:25,464,601...25,467,460
Ensembl chr11:25,466,185...25,467,117
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G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:8,717,182...8,810,716
Ensembl chr11:8,717,349...8,824,594
JBrowse link
G HSPA4 heat shock protein family A (Hsp70) member 4 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:21,290,603...21,363,701
Ensembl chr11:21,290,621...21,505,122
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G HSPA9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:26,122,917...26,142,458
Ensembl chr11:26,121,499...26,142,434
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G HTR4 5-hydroxytryptamine receptor 4 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:60,224,534...60,359,244
Ensembl chr 4:60,185,056...60,353,439
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G IK IK cytokine ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 2:35,805,631...35,818,205
Ensembl chr 2:35,805,689...35,818,050
JBrowse link
G IL13 interleukin 13 ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
JBrowse link
G IL17B interleukin 17B ISO ClinVar Annotator: match by term: Familial adenomatous polyposis 1 ClinVar PMID:18487285 PMID:19279422 PMID:21643010 PMID:28492532 NCBI chr 4:59,578,568...59,584,069
Ensembl chr 4:59,543,080...59,583,968
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G IL3 interleukin 3 ISO ClinVar Annotator: mat