RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | cell type benign neoplasm |
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Accession: | DOID:0060084
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browse the term
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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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Aip |
aryl-hydrocarbon receptor-interacting protein |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PITUITARY ADENOMA 4, ACTH-SECRETING |
CTD ClinVar |
PMID:17360484 PMID:18381572 PMID:19366855 PMID:20506337 PMID:20530095 PMID:21454441 PMID:21753072 PMID:22319033 PMID:22720333 PMID:23300914 PMID:23321498 PMID:23633209 PMID:24033266 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25741868 PMID:27153395 PMID:28492532 PMID:29074612 PMID:30461320 PMID:32324286 |
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NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
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Avpr1b |
arginine vasopressin receptor 1B |
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ISO |
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RGD |
PMID:23884782 |
RGD:14700670 |
NCBI chr13:48,367,307...48,378,831
Ensembl chr13:48,367,307...48,378,831
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Bmp4 |
bone morphogenetic protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16195406 |
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NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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Usp8 |
ubiquitin specific peptidase 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD OMIM |
PMID:25485838 |
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NCBI chr 3:119,173,818...119,222,499
Ensembl chr 3:119,173,818...119,222,484
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Abcg2 |
ATP binding cassette subfamily G member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21544799 |
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NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
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Aip |
aryl-hydrocarbon receptor-interacting protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22975028 |
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NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
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Alox5 |
arachidonate 5-lipoxygenase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18927292 |
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NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
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Amacr |
alpha-methylacyl-CoA racemase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17684125 |
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NCBI chr 2:60,949,276...60,961,342
Ensembl chr 2:60,949,256...60,961,326
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Apc |
APC regulator of WNT signaling pathway |
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ISO |
DNA:frameshift mutations, nonsense mutations:exon:multiple (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9111214 PMID:10383901 PMID:12034317 PMID:19092804 PMID:30188895, PMID:11677205 |
RGD:2317202 |
NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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Atp1a1 |
ATPase Na+/K+ transporting subunit alpha 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23416519 PMID:23913004 |
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NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
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Atp2a3 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23913004 |
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NCBI chr10:59,528,849...59,560,440
Ensembl chr10:59,529,785...59,560,433
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Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23416519 |
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NCBI chr X:157,236,400...157,312,028
Ensembl chr X:157,239,306...157,312,028
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Bcl2 |
BCL2, apoptosis regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10223192 PMID:10426811 |
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NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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Bcl2l1 |
Bcl2-like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10426811 |
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NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
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Cacna1d |
calcium voltage-gated channel subunit alpha1 D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23913001 PMID:23913004 |
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NCBI chr16:6,110,294...6,405,022
Ensembl chr16:6,112,150...6,405,117
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Ctnnb1 |
catenin beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10223192 PMID:10965019 |
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NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11376689 |
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NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
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Efemp1 |
EGF containing fibulin extracellular matrix protein 1 |
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ISO |
protein:decreased expression: : |
RGD |
PMID:24080855 |
RGD:10401654 |
NCBI chr14:113,202,382...113,294,993
Ensembl chr14:113,202,419...113,295,014
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Esr2 |
estrogen receptor 2 |
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ISO |
ratio with Esr1;mRNA:decreased expression:thyroid gland (human) |
RGD |
PMID:11721176 |
RGD:8694118 |
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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Gja1 |
gap junction protein, alpha 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16926031 |
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NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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Gjb1 |
gap junction protein, beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16926031 |
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NCBI chr X:71,272,030...71,279,973
Ensembl chr X:71,272,042...71,279,977
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Igf1 |
insulin-like growth factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1611713 |
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NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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Ins2 |
insulin 2 |
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ISO |
protein:increased secretion:serum |
RGD |
PMID:12917331 |
RGD:2317273 |
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
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Kcnj5 |
potassium inwardly-rectifying channel, subfamily J, member 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23913001 PMID:23913004 |
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NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
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Klf5 |
Kruppel-like factor 5 |
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ISO |
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RGD |
PMID:14726538 |
RGD:1304288 |
NCBI chr15:83,703,796...83,722,921
Ensembl chr15:83,703,791...83,722,921
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Kras |
KRAS proto-oncogene, GTPase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8761429 PMID:10545420 PMID:10813127 PMID:25851810 |
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NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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Men1 |
menin 1 |
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ISO |
DNA:deletion:exons |
RGD |
PMID:12917331 |
RGD:2317273 |
NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
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Mir144 |
microRNA 144 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25926378 |
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NCBI chr10:65,291,365...65,291,447
Ensembl chr10:65,291,365...65,291,447
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Mir345 |
microRNA 345 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25926378 |
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NCBI chr 6:132,748,968...132,749,063
Ensembl chr 6:132,748,968...132,749,063
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Mir425 |
microRNA 425 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25926378 |
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NCBI chr 8:117,354,821...117,354,903
Ensembl chr 8:117,354,821...117,354,903
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Mir497 |
microRNA 497 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25926378 |
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NCBI chr10:56,844,977...56,845,045
Ensembl chr10:56,844,977...56,845,045
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Mir500 |
microRNA 500 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25926378 |
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NCBI chr X:16,121,332...16,121,411
Ensembl chr X:16,121,322...16,121,413
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Mtrr |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17389618 |
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NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
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Muc2 |
mucin 2, oligomeric mucus/gel-forming |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12468628 |
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NCBI chr 1:214,663,929...214,693,197
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Ncam1 |
neural cell adhesion molecule 1 |
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ISO |
protein:increased expression:gallbladder |
RGD |
PMID:15100237 |
RGD:2326070 |
NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
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Nf1 |
neurofibromin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25119042 |
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NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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Prl |
prolactin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2274009 PMID:12058109 |
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NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
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Ptma |
prothymosin alpha |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:10822126 |
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NCBI chr 9:93,545,396...93,549,436
Ensembl chr 9:93,545,396...93,549,436
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Selenop |
selenoprotein P |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18483336 |
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NCBI chr 2:53,105,912...53,116,198
Ensembl chr 2:53,109,684...53,114,858
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Slc19a1 |
solute carrier family 19 member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16963246 |
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NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
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Suz12 |
SUZ12 polycomb repressive complex 2 subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25119042 |
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NCBI chr10:67,325,101...67,371,588
Ensembl chr10:67,325,347...67,369,668
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Tcn2 |
transcobalamin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17389618 |
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NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
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Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21946351 |
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NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Trpm7 |
transient receptor potential cation channel, subfamily M, member 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17823441 |
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NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
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Tshr |
thyroid stimulating hormone receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8413627 |
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NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
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Txnrd1 |
thioredoxin reductase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18483336 |
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NCBI chr 7:26,946,124...26,984,400
Ensembl chr 7:26,946,125...26,984,400
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Vhl |
von Hippel-Lindau tumor suppressor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16061637 |
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NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
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Apc |
APC regulator of WNT signaling pathway |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12810952 |
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NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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Cdx2 |
caudal type homeo box 2 |
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ISO |
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RGD |
PMID:9052785 |
RGD:734757 |
NCBI chr12:9,464,026...9,470,565
Ensembl chr12:9,464,026...9,470,565
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Defa5 |
defensin alpha 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15844706 |
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NCBI chr16:75,338,050...75,340,401
Ensembl chr16:75,338,052...75,340,360
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Atp1a1 |
ATPase Na+/K+ transporting subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma |
ClinVar |
PMID:23416519 |
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NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
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Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
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ISO |
ClinVar Annotator: match by term: Aldosterone Producing Adrenal Cortex Adenoma |
ClinVar |
PMID:23416519 |
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NCBI chr X:157,236,400...157,312,028
Ensembl chr X:157,239,306...157,312,028
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Cyp11b1 |
cytochrome P450, family 11, subfamily b, polypeptide 1 |
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ISO |
mRNA:decreased expression:adrenal gland (human) |
RGD |
PMID:12457455 |
RGD:4891170 |
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Cyp11b2 |
cytochrome P450, family 11, subfamily b, polypeptide 2 |
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ISO |
mRNA:increased expression:adrenal gland (human) |
RGD |
PMID:12457455 |
RGD:4891170 |
NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
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Cyp11b3 |
cytochrome P450, family 11, subfamily b, polypeptide 3 |
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ISO |
mRNA:increased expression:adrenal gland (human) |
RGD |
PMID:12457455 |
RGD:4891170 |
NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
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Prkaca |
protein kinase cAMP-activated catalytic subunit alpha |
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ISO |
associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human) |
RGD |
PMID:24855271 |
RGD:13515122 |
NCBI chr19:25,095,089...25,118,869
Ensembl chr19:25,095,089...25,118,860
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Prkacb |
protein kinase cAMP-activated catalytic subunit beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29669941 |
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NCBI chr 2:252,602,197...252,691,886
Ensembl chr 2:252,605,307...252,691,886
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Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859340 |
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NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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Smo |
smoothened, frizzled class receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859340 |
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NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
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Gla |
galactosidase, alpha |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19925601 |
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NCBI chr X:105,405,915...105,417,331
Ensembl chr X:105,406,792...105,417,323
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Naga |
alpha-N-acetylgalactosaminidase |
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ISO |
Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W |
RGD |
PMID:8040340 |
RGD:1600558 |
NCBI chr 7:123,563,047...123,572,074
Ensembl chr 7:123,563,059...123,572,082
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Ankib1 |
ankyrin repeat and IBR domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas |
ClinVar |
PMID:25741868 |
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NCBI chr 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
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Krit1 |
KRIT1, ankyrin repeat containing |
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ISO |
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas |
ClinVar |
PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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Ogg1 |
8-oxoguanine DNA glycosylase |
no_association |
ISO |
associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human) associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human) |
RGD |
PMID:19265534, PMID:17932460, PMID:17932460 |
RGD:8657154, RGD:8657155, RGD:8657155 |
NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
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Pten |
phosphatase and tensin homolog |
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ISO |
protein:increased expression:kidney (human) |
RGD |
PMID:22737271 |
RGD:12802360 |
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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Stat1 |
signal transducer and activator of transcription 1 |
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ISO |
protein:increased serine phosphorylation:kidney |
RGD |
PMID:15994429 |
RGD:2298537 |
NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
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Stat3 |
signal transducer and activator of transcription 3 |
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ISO |
protein:increased tyrosine phosphorylation:kidney |
RGD |
PMID:15994429 |
RGD:2298537 |
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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Tsc2 |
TSC complex subunit 2 |
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ISO |
associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney |
RGD |
PMID:19265534 |
RGD:8657154 |
NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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Ccl20 |
C-C motif chemokine ligand 20 |
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ISO |
protein:decreased expression:skin |
RGD |
PMID:17545018 |
RGD:7483603 |
NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
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Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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Foxp3 |
forkhead box P3 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
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Ifna1 |
interferon, alpha 1 |
treatment |
ISO |
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RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr 5:106,951,822...106,952,908
Ensembl chr 5:106,952,082...106,952,792
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Il10 |
interleukin 10 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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G |
Il12b |
interleukin 12B |
treatment |
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:16114559, PMID:23754510 |
RGD:7829774, RGD:40400714 |
NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
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G |
Il2 |
interleukin 2 |
|
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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G |
Il4 |
interleukin 4 |
treatment |
ISO |
protein:increased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:16114559, PMID:23754510 |
RGD:7829774, RGD:40400714 |
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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G |
Il6 |
interleukin 6 |
|
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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G |
Klrk1 |
killer cell lectin like receptor K1 |
|
ISO |
mRNA,protein:decreased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
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G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
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G |
Ncr1 |
natural cytotoxicity triggering receptor 1 |
|
ISO |
mRNA,protein:decreased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
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G |
Pdcd1 |
programmed cell death 1 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845 Ensembl chr 9:101,307,764...101,319,845
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
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G |
Ptpn6 |
protein tyrosine phosphatase, non-receptor type 6 |
|
ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
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G |
Serpinf1 |
serpin family F member 1 |
disease_progression |
ISO |
mRNA, protein:decreased expression:skin of body (human) |
RGD |
PMID:23569025 |
RGD:27226706 |
NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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G |
Tlr3 |
toll-like receptor 3 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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G |
Tlr7 |
toll-like receptor 7 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:28,486,836...28,513,004
Ensembl chr X:28,486,869...28,512,957
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G |
Tlr8 |
toll-like receptor 8 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:28,539,158...28,562,803
Ensembl chr X:28,539,158...28,562,803
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G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:increased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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G |
Tnfrsf18 |
TNF receptor superfamily member 18 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
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G |
Ace |
angiotensin I converting enzyme |
treatment |
IEP IMP |
protein:increased activity:heart left ventricle (rat) |
RGD |
PMID:22768235, PMID:8386093 |
RGD:12859285, RGD:12880017 |
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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G |
Ackr1 |
atypical chemokine receptor 1 |
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IEP |
|
RGD |
PMID:24429330 |
RGD:9681736 |
NCBI chr13:91,827,310...91,828,875
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G |
Angpt2 |
angiopoietin 2 |
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IEP |
mRNA:increased expression:lung (rat) |
RGD |
PMID:18692629 |
RGD:2314184 |
NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
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G |
Arrb1 |
arrestin, beta 1 |
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IEP |
mRNA, protein:altered expression:left ventricle (rat) |
RGD |
PMID:22015551 |
RGD:5509867 |
NCBI chr 1:164,502,099...164,573,947
Ensembl chr 1:164,502,389...164,593,139
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G |
Arrb2 |
arrestin, beta 2 |
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IEP |
mRNA, protein:altered expression:left ventricle (rat) |
RGD |
PMID:22015551 |
RGD:5509867 |
NCBI chr10:57,040,252...57,048,045
Ensembl chr10:57,040,267...57,048,134
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G |
Col1a1 |
collagen type I alpha 1 chain |
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IEP |
in Long Evans rats;mRNA:increased expression:aorta |
RGD |
PMID:16428894 |
RGD:8552771 |
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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G |
Des |
desmin |
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IEP |
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RGD |
PMID:10591032 |
RGD:13525010 |
NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
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G |
Fgf2 |
fibroblast growth factor 2 |
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ISO |
|
RGD |
PMID:10541235 |
RGD:8655590 |
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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G |
Mmp2 |
matrix metallopeptidase 2 |
treatment |
IEP ISO |
protein:increased expression:ileal vein |
RGD |
PMID:17398390, PMID:23924957 |
RGD:1642040, RGD:13204800 |
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
IEP ISO |
|
RGD |
PMID:17398390, PMID:23924957 |
RGD:1642040, RGD:13204800 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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G |
Nos3 |
nitric oxide synthase 3 |
|
IEP |
protein:increased expression:vena cava |
RGD |
PMID:17344190 |
RGD:2292146 |
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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G |
Timp4 |
TIMP metallopeptidase inhibitor 4 |
|
IEP |
protein:decreased expression:ileal vein |
RGD |
PMID:17398390 |
RGD:1642040 |
NCBI chr 4:147,156,948...147,163,467
Ensembl chr 4:147,156,948...147,163,467
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G |
Vegfa |
vascular endothelial growth factor A |
|
IEP ISO |
protein:increased expression:brain cortex, brain dura mater: |
RGD |
PMID:24626343, PMID:10541235 |
RGD:8551823, RGD:8655590 |
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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G |
Acvrl1 |
activin A receptor like type 1 |
|
ISO |
|
RGD |
PMID:11062473 |
RGD:1300250 |
NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
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G |
Eng |
endoglin |
susceptibility |
ISO |
associated with Telangiectasia, Hereditary Hemorrhagic; |
RGD |
PMID:8728706, PMID:24520391 |
RGD:11041184, RGD:11041564 |
NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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G |
Glmn |
glomulin, FKBP associated protein |
|
ISO |
glomuvenous malformations |
RGD |
PMID:11845407 |
RGD:1598992 |
NCBI chr14:3,204,390...3,247,703
Ensembl chr14:3,204,390...3,247,695
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G |
Map2 |
microtubule-associated protein 2 |
|
IEP |
protein:decreased expression:hippocampus |
RGD |
PMID:20873448 |
RGD:6483324 |
NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
|
RGD |
PMID:16720380 |
RGD:1582655 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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G |
Rasa1 |
RAS p21 protein activator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14639529, PMID:15917201 |
RGD:1581296 |
NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
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G |
Tek |
TEK receptor tyrosine kinase |
susceptibility |
ISO |
DNA:missense mutation: :p.R849W |
RGD |
PMID:8980225 |
RGD:1578533 |
NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
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G |
Acvrl1 |
activin A receptor like type 1 |
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ISS |
OMIM:108010 |
MouseDO |
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NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
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G |
Adgrv1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:8,926,843...9,504,455
Ensembl chr 2:8,926,850...9,504,134
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar Annotator: match by term: Arteriovenous malformations of the brain |
ClinVar |
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 |
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NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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G |
Cacna1h |
calcium voltage-gated channel subunit alpha1 H |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
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G |
Cdh2 |
cadherin 2 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr18:8,146,971...8,366,037
Ensembl chr18:8,146,971...8,360,684
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G |
Egfr |
epidermal growth factor receptor |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
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G |
Eng |
endoglin |
disease_progression |
ISO ISS |
DNA:polymorphism: : 207G>A(human) ClinVar Annotator: match by term: Cerebral arteriovenous malformation OMIM:108010 |
ClinVar MouseDO |
PMID:25741868, PMID:24876084, PMID:24520391 |
RGD:11041171, RGD:11041564 |
NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
|
ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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G |
Gli2 |
GLI family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain |
ClinVar |
PMID:25741868 |
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NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
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G |
Il17rd |
interleukin 17 receptor D |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25636053 PMID:25741868 |
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NCBI chr16:2,670,471...2,737,271
Ensembl chr16:2,670,618...2,731,808
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G |
Il6 |
interleukin 6 |
|
ISO |
|
OMIM |
|
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NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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G |
Kdr |
kinase insert domain receptor |
|
ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain |
OMIM ClinVar |
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:21079152 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22025163 PMID:22235099 PMID:22407852 PMID:22499344 PMID:22683711 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23406027 PMID:24033266 PMID:25044103 PMID:25157968 PMID:25695684 PMID:26372703 PMID:28492532 PMID:29298116 PMID:31891627 |
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NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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G |
Lemd3 |
LEM domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 7:62,976,671...63,045,860
Ensembl chr 7:62,996,336...63,045,728
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G |
Map4k4 |
mitogen-activated protein kinase kinase kinase kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,657,444...46,782,545
Ensembl chr 9:46,657,575...46,782,545
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G |
Notch4 |
notch receptor 4 |
|
ISO ISS |
OMIM:108010 |
MouseDO |
PMID:19546852 |
RGD:6480671 |
NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
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G |
Pdcd10 |
programmed cell death 10 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
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G |
Pitpnm3 |
PITPNM family member 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr10:58,618,679...58,722,679
Ensembl chr10:58,618,645...58,693,754
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G |
Prex2 |
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:7,622,668...7,941,715
Ensembl chr 5:7,627,771...7,941,822
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G |
Sars1 |
seryl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 2:211,219,743...211,235,475
Ensembl chr 2:211,219,750...211,235,467
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G |
Scube2 |
signal peptide, CUB domain and EGF like domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:174,428,056...174,495,356
Ensembl chr 1:174,428,699...174,495,258
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G |
Syn3 |
synapsin III |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:23,403,896...23,808,602
Ensembl chr 7:23,403,891...23,808,602
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G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
|
RGD |
PMID:16388189 |
RGD:1580567 |
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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G |
Zfyve16 |
zinc finger FYVE-type containing 16 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 2:22,060,879...22,105,822
Ensembl chr 2:22,062,050...22,105,710
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G |
Apc |
APC regulator of WNT signaling pathway |
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ISO |
ClinVar Annotator: match by term: Brain tumor-polyposis syndrome 2 |
ClinVar |
PMID:1316610 PMID:1324223 PMID:8990002 PMID:9950360 PMID:11317365 PMID:20223039 PMID:20685668 PMID:25741868 PMID:28492532 PMID:28944238 |
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NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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G |
Galnt12 |
polypeptide N-acetylgalactosaminyltransferase 12 |
|
ISO |
ClinVar Annotator: match by term: Adenomatous polyposis coli, attenuated |
ClinVar |
PMID:19617566 PMID:20551049 PMID:22461326 PMID:24038392 PMID:26845104 PMID:28492532 PMID:29095867 PMID:29596542 |
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NCBI chr 5:62,718,733...62,751,345
Ensembl chr 5:62,718,787...62,750,145
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA |
ClinVar |
PMID:15930273 PMID:17376864 PMID:18829572 PMID:19366826 PMID:21824802 PMID:22120714 PMID:22729224 PMID:22949682 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:28941273 PMID:31568861 |
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NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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G |
Pten |
phosphatase and tensin homolog |
|
ISO ISS |
ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME OMIM:153480 |
ClinVar MouseDO |
PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 PMID:9598803 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10749983 PMID:10848731 PMID:10920277 PMID:10923032 PMID:11504908 PMID:11685670 PMID:14518070 PMID:15016963 PMID:15211648 PMID:15254419 PMID:15647370 PMID:16952599 PMID:17392703 PMID:17526800 PMID:17873882 PMID:17941496 PMID:18558293 PMID:18725974 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19458356 PMID:19829307 PMID:19903786 PMID:20018398 PMID:20085938 PMID:20453058 PMID:20600018 PMID:20619739 PMID:20881644 PMID:21194675 PMID:21343951 PMID:21659347 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22281088 PMID:22381246 PMID:22479427 PMID:22491738 PMID:22520842 PMID:23335809 PMID:23349303 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:23886400 PMID:24033266 PMID:24052722 PMID:24778394 PMID:25157968 PMID:25288137 PMID:25326635 PMID:25669429 PMID:25741868 PMID:25756585 PMID:26376867 PMID:26773036 PMID:27426521 PMID:27477328 PMID:27959697 PMID:28286253 PMID:28492532 PMID:28526761 PMID:29663862 PMID:30287823 PMID:32238909 |
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NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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G |
Sdhd |
succinate dehydrogenase complex subunit D |
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ISO |
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA |
ClinVar |
PMID:18678321 PMID:21565294 PMID:21979946 PMID:28492532 PMID:29386252 |
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NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
DNA:missense mutation:cds:p.V600E (human) |
RGD |
PMID:25704541 |
RGD:11521169 |
NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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G |
Ccnd1 |
cyclin D1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29103775 |
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NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
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G |
Ccne1 |
cyclin E1 |
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ISO |
associated with Vulvar Neoplasms;mRNA:increased expression:vulva |
RGD |
PMID:17471573 |
RGD:2289255 |
NCBI chr 1:94,485,830...94,495,112
Ensembl chr 1:94,485,832...94,494,980
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G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
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ISO |
protein:increased expression:skin: |
RGD |
PMID:10583111 |
RGD:8662826 |
NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
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G |
Nrf1 |
nuclear respiratory factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21514422 |
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NCBI chr 4:57,335,732...57,445,317
Ensembl chr 4:57,378,069...57,445,341
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G |
Ppargc1a |
PPARG coactivator 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21514422 |
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NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
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G |
Tfam |
transcription factor A, mitochondrial |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21514422 |
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NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
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G |
Wnt7b |
Wnt family member 7B |
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ISO |
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RGD |
PMID:8168088 |
RGD:2291878 |
NCBI chr 7:126,423,418...126,465,724
Ensembl chr 7:126,420,656...126,465,723
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G |
Sash1 |
SAM and SH3 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA |
OMIM ClinVar |
PMID:25315659 |
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NCBI chr 1:2,782,905...2,950,749
Ensembl chr 1:2,782,864...2,846,200
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G |
Npc1 |
NPC intracellular cholesterol transporter 1 |
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ISO |
ClinVar Annotator: match by term: Capillary hemangiomas |
ClinVar |
PMID:25741868 |
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NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683
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G |
Ccnh |
cyclin H |
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ISO |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation |
ClinVar |
PMID:14639529 PMID:18446851 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28295764 PMID:28492532 PMID:29891884 |
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NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
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G |
Rasa1 |
RAS p21 protein activator 1 |
susceptibility |
ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:14639529 PMID:18446851 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28295764 PMID:28492532 PMID:29171923 PMID:29891884 PMID:30120215, PMID:14639529 |
RGD:734495 |
NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
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G |
Stambp |
Stam binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23542699 |
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NCBI chr 4:115,249,343...115,277,340
Ensembl chr 4:115,249,351...115,275,068
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G |
Ccnh |
cyclin H |
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ISO |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 |
ClinVar |
PMID:14639529 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28492532 PMID:29120072 |
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NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
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G |
Rasa1 |
RAS p21 protein activator 1 |
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ISO |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 |
OMIM ClinVar |
PMID:14639529 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28492532 PMID:29120072 |
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NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
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G |
Ephb4 |
EPH receptor B4 |
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ISO |
ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 |
ClinVar OMIM |
PMID:25741868 PMID:28687708 PMID:28730721 PMID:29444212 PMID:30578106 |
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NCBI chr12:22,393,338...22,418,332
Ensembl chr12:22,393,330...22,417,980
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G |
Slc12a9 |
solute carrier family 12, member 9 |
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ISO |
ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 |
ClinVar |
PMID:28687708 |
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NCBI chr12:22,434,845...22,451,265
Ensembl chr12:22,434,814...22,451,263
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G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
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ISO |
ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA |
ClinVar |
PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26490314 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29872718 PMID:30068732 |
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NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
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G |
Sdhb |
succinate dehydrogenase complex iron sulfur subunit B |
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ISO |
ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA |
ClinVar |
PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 PMID:17200167 PMID:17667967 PMID:17884808 PMID:19001511 PMID:19215943 PMID:19802898 PMID:21820839 PMID:23282968 PMID:24033266 PMID:25371406 PMID:25683602 PMID:25741868 PMID:25972245 PMID:26173966 PMID:26467025 PMID:26916530 PMID:28070496 PMID:28152038 PMID:28349240 PMID:28374168 PMID:28492532 PMID:28738844 PMID:29386252 |
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NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
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G |
Sdhc |
succinate dehydrogenase complex subunit C |
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ISO |
ClinVar Annotator: match by term: Carney triad |
ClinVar |
PMID:12658451 PMID:17667967 PMID:17804857 PMID:19351833 PMID:21173220 PMID:21822798 PMID:24402737 PMID:26173966 PMID:28492532 |
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NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
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G |
Ccm2 |
CCM2 scaffold protein |
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ISO |
ClinVar Annotator: match by term: Cavernous hemangioma |
ClinVar |
PMID:25741868 |
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NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
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G |
Krit1 |
KRIT1, ankyrin repeat containing |
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ISO |
ClinVar Annotator: match by term: Cavernous hemangioma |
ClinVar |
PMID:10545614 PMID:23595507 PMID:24466005 PMID:25741868 PMID:28492532 |
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NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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G |
Ccnh |
cyclin H |
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ISO |
ClinVar Annotator: match by term: Cerebral venous angioma |
ClinVar |
PMID:23650393 PMID:25741868 PMID:31680349 |
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NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
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G |
Rasa1 |
RAS p21 protein activator 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral venous angioma |
ClinVar |
PMID:23650393 PMID:25741868 PMID:31680349 |
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NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
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G |
Vhl |
von Hippel-Lindau tumor suppressor |
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ISO |
ClinVar Annotator: match by term: Cerebellar hemangioblastoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
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G |
Ankib1 |
ankyrin repeat and IBR domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
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G |
Ccm2 |
CCM2 scaffold protein |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebral cavernous malformation |
CTD ClinVar |
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532 |
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NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
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G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
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ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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G |
Kdr |
kinase insert domain receptor |
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ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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G |
Krit1 |
KRIT1, ankyrin repeat containing |
susceptibility |
ISO ISS |
ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar Annotator: match by OMIM:116860 |
MouseDO ClinVar |
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11959162 PMID:12404106 PMID:12810002 PMID:12854741 PMID:15079030 PMID:17187287 PMID:17211633 PMID:18383588 PMID:19088123 PMID:19454328 PMID:20419355 PMID:20798775 PMID:21029238 PMID:23584803 PMID:23595507 PMID:24401931 PMID:24466005 PMID:24689081 PMID:24721395 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28645800 PMID:28745674 PMID:30161288, PMID:14755725, PMID:15079030 |
RGD:1358458, RGD:1598379 |
NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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G |
Pdcd10 |
programmed cell death 10 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:28492532 |
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NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
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G |
Pon1 |
paraoxonase 1 |
susceptibility |
ISO |
DNA:missense mutations:cds:p.L55M, p.Q192R (human) |
RGD |
PMID:26122242 |
RGD:11552573 |
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
protein:decreased expression:brain (human) |
RGD |
PMID:19061355 |
RGD:12859036 |
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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G |
Serpini1 |
serpin family I member 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
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NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
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G |
Krit1 |
KRIT1, ankyrin repeat containing |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformations 1 |
ClinVar OMIM |
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11222804 PMID:11310633 PMID:11914398 PMID:11941540 PMID:12404106 PMID:12854741 PMID:17562932 PMID:19088123 PMID:19454328 PMID:24401931 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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G |
Ccm2 |
CCM2 scaffold protein |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformations 2 |
OMIM ClinVar |
PMID:2468908 PMID:14624391 PMID:14740320 PMID:15122722 PMID:17160895 PMID:18060436 PMID:18300272 PMID:19088123 PMID:19088124 PMID:20419355 PMID:23595507 PMID:24466005 PMID:25525273 PMID:25741868 PMID:26467025 PMID:27153162 PMID:27561926 PMID:27792856 PMID:28492532 PMID:28655553 PMID:32860008 |
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NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
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G |
Nacad |
NAC alpha domain containing |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformations 2 |
ClinVar |
PMID:17160895 PMID:28492532 |
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NCBI chr14:86,860,607...86,868,605
Ensembl chr14:86,860,608...86,868,598
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G |
Pdcd10 |
programmed cell death 10 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformations 3 |
OMIM ClinVar |
PMID:15543491 PMID:18035376 PMID:18060436 PMID:20623299 PMID:23485406 PMID:23595507 PMID:23801932 PMID:25354366 PMID:25741868 PMID:26896283 PMID:28492532 PMID:30161288 |
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NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
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G |
Serpini1 |
serpin family I member 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformations 3 |
ClinVar |
PMID:18060436 PMID:20623299 PMID:28492532 |
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NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
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G |
Bax |
BCL2 associated X, apoptosis regulator |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:17694953 |
RGD:1643352 |
NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
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G |
Birc2 |
baculoviral IAP repeat-containing 2 |
disease_progression |
ISO |
DNA, protein:amplification, increased expression:uterine cervix, nucleus |
RGD |
PMID:12208731 |
RGD:1643529 |
NCBI chr 8:6,014,014...6,036,668
Ensembl chr 8:6,013,207...6,034,142
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G |
Brip1 |
BRCA1 interacting protein C-terminal helicase 1 |
severity |
ISO |
mRNA, protein:increased expression:uterine cervix, nucleus (human) |
RGD |
PMID:24708616 |
RGD:11252104 |
NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
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G |
Ccl22 |
C-C motif chemokine ligand 22 |
severity |
ISO |
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RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chr19:10,674,189...10,681,145
Ensembl chr19:10,674,189...10,681,145
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G |
Ccr4 |
C-C motif chemokine receptor 4 |
severity |
ISO |
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RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chr 8:122,530,152...122,535,959
Ensembl chr 8:122,530,624...122,532,070
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G |
Cd82 |
Cd82 molecule |
|
ISO |
protein:decreased expression:uterine cervix |
RGD |
PMID:15642213 |
RGD:2289399 |
NCBI chr 3:82,324,344...82,368,846
Ensembl chr 3:82,324,354...82,368,357
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G |
Csf1r |
colony stimulating factor 1 receptor |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:18565574 |
RGD:2299119 |
NCBI chr18:56,414,493...56,458,300
Ensembl chr18:56,414,488...56,458,300
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G |
Fgf7 |
fibroblast growth factor 7 |
|
ISO |
cervical squamous cell carcinoma |
RGD |
PMID:17306351 |
RGD:2289084 |
NCBI chr 3:118,315,859...118,368,464
Ensembl chr 3:118,317,761...118,366,872
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
no_association |
ISO |
DNA:missense mutation:cds: p.S249G (human) |
RGD |
PMID:11605053 |
RGD:38500202 |
NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
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G |
Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
disease_progression |
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:15514944 |
RGD:2293757 |
NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
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G |
Fosl1 |
FOS like 1, AP-1 transcription factor subunit |
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ISO |
protein:decreased expression:uterine cervix |
RGD |
PMID:15514944 |
RGD:2293757 |
NCBI chr 1:220,826,560...220,835,066
Ensembl chr 1:220,826,560...220,835,066
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G |
Foxp3 |
forkhead box P3 |
severity |
ISO |
|
RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
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G |
Mir21 |
microRNA 21 |
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ISO |
RNA:increased expression:cervical cell |
RGD |
PMID:26010154 |
RGD:41404529 |
NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
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G |
Pdpn |
podoplanin |
disease_progression |
ISO |
|
RGD |
PMID:16528371 |
RGD:2292237 |
NCBI chr 5:161,947,137...161,981,441
Ensembl chr 5:161,947,137...161,981,441
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G |
Smad3 |
SMAD family member 3 |
severity |
ISO |
|
RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
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G |
Timp2 |
TIMP metallopeptidase inhibitor 2 |
|
ISO |
protein:decreased expression:uterine cervix |
RGD |
PMID:16619570 |
RGD:2290402 |
NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
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G |
Tmbim6 |
transmembrane BAX inhibitor motif containing 6 |
disease_progression |
ISO |
mRNA:increased expression:uterine cervix |
RGD |
PMID:15337562 |
RGD:2291959 |
NCBI chr 7:141,039,433...141,070,269
Ensembl chr 7:141,034,982...141,069,989
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G |
Tnfrsf4 |
TNF receptor superfamily member 4 |
severity |
ISO |
|
RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chr 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474
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G |
Tnfsf4 |
TNF superfamily member 4 |
severity |
ISO |
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RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chr13:79,269,973...79,293,775
Ensembl chr13:79,269,973...79,293,778
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G |
Tp53 |
tumor protein p53 |
disease_progression |
ISO |
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RGD |
PMID:17969407 |
RGD:2298526 |
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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G |
Tymp |
thymidine phosphorylase |
disease_progression |
ISO |
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RGD |
PMID:16803522 |
RGD:2293719 |
NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
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G |
Mapk1 |
mitogen activated protein kinase 1 |
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ISO |
protein:increased expression:brain: |
RGD |
PMID:21466243 |
RGD:13702864 |
NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
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G |
H3f3b |
H3.3 histone B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24162739 |
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NCBI chr10:104,573,666...104,575,890
Ensembl chr10:104,573,664...104,575,890
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G |
Pth1r |
parathyroid hormone 1 receptor |
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ISO |
ClinVar Annotator: match by OMIM:215045 ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type |
ClinVar OMIM |
PMID:3975110 PMID:9268097 PMID:9649554 PMID:10523019 PMID:17164305 PMID:18559376 PMID:25741868 PMID:28492532 |
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NCBI chr 8:118,984,531...119,012,803
Ensembl chr 8:118,988,053...119,012,671
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G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22057234 PMID:25895133 |
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NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
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G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22057234 PMID:25895133 |
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NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
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G |
Ihh |
Indian hedgehog signaling molecule |
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ISO |
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RGD |
PMID:26091072 |
RGD:12910968 |
NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X (human) |
RGD |
PMID:20577567 |
RGD:11069623 |
NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
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G |
Smo |
smoothened, frizzled class receptor |
treatment |
ISO |
|
RGD |
PMID:26091072 |
RGD:12910968 |
NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
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G |
Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Papilloma of choroid plexus ClinVar Annotator: match by OMIM:260500 |
OMIM ClinVar |
PMID:1565143 PMID:1565144 PMID:1683921 PMID:7732013 PMID:7887414 PMID:8164043 PMID:8423216 PMID:8825920 PMID:9047394 PMID:9242456 PMID:9569050 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11101847 PMID:11139324 PMID:11479205 PMID:11782540 PMID:12007217 PMID:12085209 PMID:12619118 PMID:12672316 PMID:12826609 PMID:15004724 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15951970 PMID:15977174 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:17540308 PMID:17606709 PMID:17636407 PMID:18391940 PMID:18511570 PMID:19127115 PMID:19556618 PMID:19881536 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20689556 PMID:20693561 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21484931 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22698404 PMID:22811390 PMID:22899716 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23263379 PMID:23538418 PMID:23792586 PMID:24033266 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24641375 PMID:24651012 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25584008 PMID:25741868 PMID:25787918 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26822237 PMID:26845104 PMID:27153395 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27516001 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28492532 PMID:29478780 PMID:29489754 PMID:30076369 PMID:30224644 PMID:30327374 PMID:30816478 PMID:31775759 PMID:32000721 |
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NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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G |
Bmpr1a |
bone morphogenetic protein receptor type 1A |
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ISS |
OMIM:612242 |
MouseDO |
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NCBI chr16:10,758,278...10,852,170
Ensembl chr16:10,758,527...10,802,512
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: LOPEZ-GUTIERREZ SYNDROME ClinVar Annotator: match by term: Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth |
ClinVar OMIM |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 PMID:16906227 PMID:16930767 PMID:17376864 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729222 PMID:22729224 PMID:23066039 PMID:23100325 PMID:24033266 PMID:24559322 PMID:25157968 PMID:25741868 PMID:26619011 PMID:26851524 PMID:27631024 PMID:28492532 PMID:29446767 PMID:31775759 |
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NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: CLOVE SYNDROME ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES ClinVar Annotator: match by term: CLOVES SYNDROME DNA: missense mutations: exon :p.H1047R, p.H1047L |
OMIM ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23888070 PMID:24033266 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:26851524 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:31775759, PMID:22729222 |
RGD:13207409 |
NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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G |
Chka |
choline kinase alpha |
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ISO |
protein:increased expression:colonic mucosa (human) |
RGD |
PMID:10363580 |
RGD:10401945 |
NCBI chr 1:219,076,618...219,126,221
Ensembl chr 1:219,077,771...219,126,220
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G |
Igf2bp1 |
insulin-like growth factor 2 mRNA binding protein 1 |
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ISO |
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RGD |
PMID:26194191 |
RGD:11086893 |
NCBI chr10:83,774,178...83,823,323
Ensembl chr10:83,780,203...83,822,996
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G |
Rac1 |
Rac family small GTPase 1 |
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ISO |
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RGD |
PMID:12865273 |
RGD:13432048 |
NCBI chr12:13,090,316...13,111,841
Ensembl chr12:13,090,172...13,111,873
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G |
Apc |
APC regulator of WNT signaling pathway |
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ISO |
ClinVar Annotator: match by term: Colorectal adenoma |
ClinVar |
PMID:2472832 PMID:10811618 PMID:11257105 PMID:11904335 PMID:16454848 PMID:18199528 PMID:18844223 PMID:20233475 PMID:21859464 PMID:22703879 PMID:22722839 PMID:22995991 PMID:23085758 PMID:23292937 PMID:23970361 PMID:24033266 PMID:24055113 PMID:24728327 PMID:24861525 PMID:25178641 PMID:25203624 PMID:25318351 PMID:25479140 PMID:25559809 PMID:25637381 PMID:25741868 PMID:25778705 PMID:25980754 PMID:26332594 PMID:26416840 PMID:26467025 PMID:26580448 PMID:27153395 PMID:27535533 PMID:27600092 PMID:28301460 PMID:28492532 PMID:28503720 PMID:28873162 PMID:29212164 PMID:30256826 |
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NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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G |
Birc7 |
baculoviral IAP repeat-containing 7 |
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ISO |
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RGD |
PMID:21122381 |
RGD:13217408 |
NCBI chr 3:176,438,335...176,443,864
Ensembl chr 3:176,439,199...176,443,195
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G |
F5 |
coagulation factor V |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:30971492 |
RGD:40907058 |
NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
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G |
Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
|
RGD |
PMID:8264230 |
RGD:13210753 |
NCBI chr 6:109,300,433...109,303,299
Ensembl chr 6:109,300,433...109,303,299
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G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
DNA:deletion:cds (human) |
RGD |
PMID:20375710 |
RGD:7495820 |
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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G |
Gstp1 |
glutathione S-transferase pi 1 |
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ISO |
DNA:SNP: :p.A114V (human) |
RGD |
PMID:20375710 |
RGD:7495820 |
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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G |
Jun |
Jun proto-oncogene, AP-1 transcription factor subunit |
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ISO |
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RGD |
PMID:8264230 |
RGD:13210753 |
NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
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G |
Mapk8 |
mitogen-activated protein kinase 8 |
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ISO |
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RGD |
PMID:21122381, PMID:23082052 |
RGD:13217408, RGD:13217413 |
NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
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G |
Mir224 |
microRNA 224 |
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ISO |
mRNA:increased expression:colorectal mucosa: |
RGD |
PMID:25919696 |
RGD:14398749 |
NCBI chr X:152,223,754...152,223,835
Ensembl chr X:152,223,754...152,223,835
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G |
Odc1 |
ornithine decarboxylase 1 |
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ISO |
ClinVar Annotator: match by term: Colonic adenoma recurrence, reduced risk of |
ClinVar |
PMID:12810952 |
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NCBI chr 6:42,852,529...42,859,142
Ensembl chr 6:42,852,683...42,859,927
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G |
Raf1 |
Raf-1 proto-oncogene, serine/threonine kinase |
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ISO |
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RGD |
PMID:21122381 |
RGD:13217408 |
NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
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G |
Smad4 |
SMAD family member 4 |
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ISO |
mRNA:increased expression:mucosa |
RGD |
PMID:11480790 |
RGD:21066339 |
NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
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ISO |
protein:increased expression:serum, colorectal mucosa, epithelial cell |
RGD |
PMID:23082052 |
RGD:13217413 |
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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G |
Adam3a |
ADAM metallopeptidase domain 3A |
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ISO |
DNA, mRNA:amplification, increase expression |
RGD |
PMID:25491297 |
RGD:13831354 |
NCBI chr16:72,086,878...72,136,685
Ensembl chr16:72,086,878...72,136,687
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G |
Aldoa |
aldolase, fructose-bisphosphate A |
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ISO |
protein:increased expression:pancreas |
RGD |
PMID:19077459 |
RGD:2325696 |
NCBI chr 1:198,228,387...198,233,988
Ensembl chr 1:198,228,387...198,233,588
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G |
Aldoart2 |
aldolase 1 A retrogene 2 |
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ISO |
protein:increased expression:pancreas |
RGD |
PMID:19077459 |
RGD:2325696 |
NCBI chr 6:76,349,362...76,351,052
Ensembl chr 6:76,349,362...76,351,051
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G |
Foxo3 |
forkhead box O3 |
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ISS |
OMIM:166950 |
MouseDO |
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NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
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G |
Tmc6 |
transmembrane channel like 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epidermodysplasia verruciformis |
CTD ClinVar |
PMID:15042430 PMID:17139267 PMID:25741868 PMID:28492532 |
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NCBI chr10:106,766,857...106,783,004
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G |
Tmc8 |
transmembrane channel-like 8 |
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ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis |
ClinVar |
PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532 |
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NCBI chr10:106,784,819...106,795,307
Ensembl chr10:106,785,077...106,795,299
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G |
Tmc6 |
transmembrane channel like 6 |
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ISO |
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 |
ClinVar OMIM |
PMID:12426567 PMID:15042430 PMID:17139267 PMID:25741868 PMID:28492532 |
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NCBI chr10:106,766,857...106,783,004
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G |
Tmc8 |
transmembrane channel-like 8 |
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ISO |
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:106,784,819...106,795,307
Ensembl chr10:106,785,077...106,795,299
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G |
Tmc8 |
transmembrane channel-like 8 |
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ISO |
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS 2 ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2 |
ClinVar OMIM |
PMID:10084299 PMID:12426567 PMID:28646613 |
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NCBI chr10:106,784,819...106,795,307
Ensembl chr10:106,785,077...106,795,299
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G |
Cib1 |
calcium and integrin binding 1 |
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ISO |
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 |
ClinVar OMIM |
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28646613 PMID:30068544 |
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NCBI chr 1:142,014,962...142,020,461
Ensembl chr 1:142,014,958...142,020,525
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G |
Rhoh |
ras homolog family member H |
susceptibility |
ISO |
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 |
ClinVar OMIM |
PMID:22850876 |
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NCBI chr14:43,961,756...43,992,587
Ensembl chr14:43,961,756...43,992,587
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G |
Il7 |
interleukin 7 |
susceptibility |
ISO |
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 |
OMIM ClinVar |
PMID:25981006 |
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NCBI chr 2:96,427,884...96,474,979
Ensembl chr 2:96,439,286...96,474,977
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G |
Col4a5 |
collagen type IV alpha 5 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17069596 |
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NCBI chr X:112,769,595...112,983,720
Ensembl chr X:112,769,645...112,983,685
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G |
Col4a6 |
collagen type IV alpha 6 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17069596 |
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NCBI chr X:112,405,647...112,768,337
Ensembl chr X:112,405,647...112,473,822
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G |
Abcc2 |
ATP binding cassette subfamily C member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21206495 |
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NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
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G |
Adcyap1 |
adenylate cyclase activating polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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NCBI chr 9:121,705,897...121,725,736
Ensembl chr 9:121,706,979...121,725,716
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G |
Ajuba |
ajuba LIM protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
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NCBI chr15:33,208,210...33,218,456
Ensembl chr15:33,208,216...33,218,456
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G |
Aldh2 |
aldehyde dehydrogenase 2 family member |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16639733 PMID:22960999 |
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NCBI chr12:40,466,418...40,498,813
Ensembl chr12:40,466,495...40,498,752
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G |
Anxa1 |
annexin A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
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|
G |
Atp1b2 |
ATPase Na+/K+ transporting subunit beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25129146 |
|
NCBI chr10:56,205,622...56,211,879
Ensembl chr10:56,205,625...56,211,891
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G |
Azin1 |
antizyme inhibitor 1 |
|
ISO |
|
RGD |
PMID:24302582 |
RGD:14700707 |
NCBI chr 7:77,345,646...77,372,398
Ensembl chr 7:77,345,646...77,372,398
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|
G |
B2m |
beta-2 microglobulin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
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|
G |
Blvrb |
biliverdin reductase B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 1:84,256,063...84,273,726
Ensembl chr 1:84,256,159...84,274,075
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|
G |
Bmp6 |
bone morphogenetic protein 6 |
|
ISO |
protein:increased expression:esophagus |
RGD |
PMID:22364398 |
RGD:7242413 |
NCBI chr17:26,955,142...27,112,820
Ensembl chr17:26,955,142...27,112,820
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|
G |
Brca2 |
BRCA2, DNA repair associated |
|
ISO |
DNA:nonsense mutation: :p.K3326X (human) |
RGD |
PMID:21279724 |
RGD:11344913 |
NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
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|
G |
Bst2 |
bone marrow stromal cell antigen 2 |
disease_progression |
ISO |
|
RGD |
PMID:26832883 |
RGD:14398496 |
NCBI chr16:19,938,781...19,942,353
Ensembl chr16:19,938,784...19,942,353
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G |
Bub1b |
BUB1 mitotic checkpoint serine/threonine kinase B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18691855 |
|
NCBI chr 3:110,367,949...110,420,471
Ensembl chr 3:110,367,939...110,420,458
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G |
Calr |
calreticulin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr19:25,956,771...25,961,666
Ensembl chr19:25,956,771...25,961,666
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G |
Capza1 |
capping actin protein of muscle Z-line subunit alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 2:207,305,748...207,350,812
Ensembl chr 2:207,305,752...207,350,812
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G |
Car1 |
carbonic anhydrase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 2:88,185,204...88,227,486
Ensembl chr 2:88,217,188...88,227,479
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G |
Car2 |
carbonic anhydrase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 2:88,097,740...88,112,868
Ensembl chr 2:88,097,720...88,113,029
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|
G |
Cbx8 |
chromobox 8 |
severity |
ISO |
mRNA:increased expression:esophagus: |
RGD |
PMID:25197352 |
RGD:9587436 |
NCBI chr10:108,148,073...108,150,511
Ensembl chr10:108,148,073...108,150,511
|
|
G |
Cchcr1 |
coiled-coil alpha-helical rod protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29379198 |
|
NCBI chr20:3,730,968...3,745,721
Ensembl chr20:3,730,955...3,740,009
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G |
Ccnd1 |
cyclin D1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
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G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15375580 |
|
NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
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|
G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
|
ISO |
DNA:SNPs: :rs615552, rs573687 (human) |
RGD |
PMID:23361049 |
RGD:7248756 |
NCBI chr 5:107,834,353...107,857,428
Ensembl chr 5:107,845,951...107,858,104
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G |
Cfl1 |
cofilin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 1:220,869,805...220,873,337
Ensembl chr 1:220,869,805...220,873,337
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|
G |
Clic1 |
chloride intracellular channel 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr20:5,040,314...5,049,166
Ensembl chr20:5,040,337...5,049,166
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|
G |
Crabp1 |
cellular retinoic acid binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17438526 |
|
NCBI chr 8:59,344,097...59,352,135
Ensembl chr 8:59,344,083...59,352,132
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|
G |
Crebbp |
CREB binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
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G |
Cstb |
cystatin B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
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G |
Ctnnb1 |
catenin beta 1 |
|
ISO |
ClinVar Annotator: match by term: Esophageal Squamous Cell Carcinoma |
ClinVar |
PMID:25157968 PMID:26619011 |
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NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
ISO |
|
RGD |
PMID:11860825 |
RGD:14700943 |
NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
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G |
Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
|
IEP |
protein:increased expression:esophagus (rat) |
RGD |
PMID:18618592 |
RGD:7829715 |
NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
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|
G |
Cyp26b1 |
cytochrome P450, family 26, subfamily b, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29379198 |
|
NCBI chr 4:116,261,796...116,278,615
Ensembl chr 4:116,261,796...116,278,615
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|
G |
Dcc |
DCC netrin 1 receptor |
|
ISO |
DNA:deletions:multiple (human) |
RGD |
PMID:8187090 |
RGD:734879 |
NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566
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|
G |
Dido1 |
death inducer-obliterator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30431698 |
|
NCBI chr 3:176,162,886...176,216,868
Ensembl chr 3:176,162,886...176,197,753
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|
G |
Dnmt3b |
DNA methyltransferase 3 beta |
disease_progression |
ISO |
protein:increased expression:nucleus: |
RGD |
PMID:22213175 |
RGD:9589085 |
NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
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|
G |
Egfr |
epidermal growth factor receptor |
severity |
ISO |
protein:increased expression:esophagus (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Esophageal Squamous Cell Carcinoma |
CTD ClinVar |
PMID:21947696 PMID:23485129 PMID:25157968, PMID:10385363 |
RGD:5131486 |
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
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|
G |
Ehmt1 |
euchromatic histone lysine methyltransferase 1 |
disease_progression |
ISO |
protein:increased expression:esophagus: protein:increased expression:esophagus mucosa: |
RGD |
PMID:24649311, PMID:24805087 |
RGD:9589143, RGD:9590071 |
NCBI chr 3:1,966,974...2,123,858
Ensembl chr 3:1,960,957...2,123,820
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|
G |
Ehmt2 |
euchromatic histone lysine methyltransferase 2 |
disease_progression |
ISO |
protein:increased expression:esophagus mucosa: |
RGD |
PMID:24805087 |
RGD:9590071 |
NCBI chr20:4,576,033...4,592,980
Ensembl chr20:4,576,057...4,592,980
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|
G |
Ep300 |
E1A binding protein p300 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17965222 PMID:25151357 |
|
NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
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|
G |
Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
treatment |
ISO |
|
RGD |
PMID:23263828 |
RGD:11252162 |
NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
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|
G |
Fanca |
FA complementation group A |
|
ISO |
DNA:missense mutation: :p.S858R (human) |
RGD |
PMID:21279724 |
RGD:11344913 |
NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
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|
G |
Fasn |
fatty acid synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29379198 |
|
NCBI chr10:109,987,735...110,005,901
Ensembl chr10:109,987,735...110,005,901
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|
G |
Fat1 |
FAT atypical cadherin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
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|
G |
Fat2 |
FAT atypical cadherin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr10:40,583,025...40,682,598
Ensembl chr10:40,584,403...40,657,861
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|
G |
Fat3 |
FAT atypical cadherin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 8:14,417,039...15,011,596
Ensembl chr 8:14,417,584...14,880,644
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|
G |
Fat4 |
FAT atypical cadherin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387
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G |
Fbxw7 |
F-box and WD repeat domain containing 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
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|
G |
Fkbp1a |
FKBP prolyl isomerase 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 3:147,042,944...147,062,725
Ensembl chr 3:147,042,944...147,062,724
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|
G |
Gdi2 |
GDP dissociation inhibitor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr17:70,299,177...70,325,864
Ensembl chr17:70,299,183...70,325,855
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|
G |
Glo1 |
glyoxalase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr20:9,273,589...9,291,608
Ensembl chr20:9,273,594...9,291,610
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|
G |
Gstm1 |
glutathione S-transferase mu 1 |
no_association |
ISO |
|
RGD |
PMID:11860825, PMID:17916905, PMID:25432134 |
RGD:14700943, RGD:14700982, RGD:14700948 |
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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|
G |
Gsto1 |
glutathione S-transferase omega 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 1:267,607,437...267,617,387
Ensembl chr 1:267,607,418...267,617,387
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|
G |
Gstp1 |
glutathione S-transferase pi 1 |
|
ISO |
DNA:polymorphism: :p.I105V (human) |
RGD |
PMID:17916905 |
RGD:14700982 |
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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|
G |
Gstt1 |
glutathione S-transferase theta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17173682, PMID:25432134, PMID:17916905 |
RGD:14700948, RGD:14700982 |
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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|
G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17201171 |
|
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
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|
G |
Hmgb1 |
high mobility group box 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
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G |
Hmgn5 |
high mobility group nucleosome binding domain 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28914995 |
|
NCBI chr X:80,134,557...80,142,902
Ensembl chr X:80,134,557...80,142,902
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G |
Hoxb7 |
homeo box B7 |
severity |
ISO |
protein:increased expression:esophageal mucosa (human) |
RGD |
PMID:26076456 |
RGD:10402177 |
NCBI chr10:84,135,224...84,138,642
Ensembl chr10:84,135,116...84,138,637
|
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G |
Hspa5 |
heat shock protein family A (Hsp70) member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
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G |
Kat2b |
lysine acetyltransferase 2B |
|
ISO |
mRNA:decreased expression:esophagus (human) |
RGD |
PMID:19525977 |
RGD:9590307 |
NCBI chr 9:4,440,982...4,492,949
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G |
Kdm4c |
lysine demethylase 4C |
severity susceptibility |
ISO |
protein:increased expression:esophageal epithelium, nucleus (human) DNA:snp:intron:IVS8-3292G>A (rs1340513) (human) |
RGD |
PMID:24224128, PMID:15805246 |
RGD:9587746, RGD:9587752 |
NCBI chr 5:90,800,139...91,012,662
Ensembl chr 5:90,800,082...91,012,659
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G |
Kdm5b |
lysine demethylase 5B |
severity |
ISO |
protein:increased expression:esophageal mucosa, cytoplasm (human) |
RGD |
PMID:22534467 |
RGD:9587776 |
NCBI chr13:51,384,371...51,455,392
Ensembl chr13:51,384,389...51,455,357
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G |
Kdm6a |
lysine demethylase 6A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr X:4,805,493...4,945,788
Ensembl chr X:4,806,277...4,945,944
|
|
G |
Kmt2c |
lysine methyltransferase 2C |
|
ISO |
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357, PMID:25151357 |
RGD:9588233 |
NCBI chr 4:82,506...109,986 NCBI chr 4:6,083,650...6,294,413
Ensembl chr 4:6,083,736...6,292,516
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|
G |
Kmt2d |
lysine methyltransferase 2D |
|
ISO |
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357, PMID:25151357 |
RGD:9588233 |
NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
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G |
Krt13 |
keratin 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr10:88,032,130...88,036,040
Ensembl chr10:88,032,130...88,036,040
|
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G |
Krt14 |
keratin 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16543248 |
|
NCBI chr10:88,118,029...88,122,233
Ensembl chr10:88,055,823...88,122,233
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|
G |
Krt16 |
keratin 16 |
|
IEP |
|
RGD |
PMID:8950218 |
RGD:633113 |
NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
|
|
G |
Krt17 |
keratin 17 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr10:88,158,993...88,163,712
Ensembl chr10:88,118,001...88,163,723
|
|
G |
Krt19 |
keratin 19 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr10:88,055,843...88,060,560
Ensembl chr10:88,055,841...88,060,561
|
|
G |
LOC100361016 |
oocyte specific homeobox 5-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30431698 |
|
NCBI chr X:93,064,417...93,067,181
Ensembl chr X:93,064,686...93,065,675
|
|
G |
Loxl2 |
lysyl oxidase-like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24716982 |
|
NCBI chr15:51,276,022...51,365,238
Ensembl chr15:51,303,909...51,365,234
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|
G |
Lta |
lymphotoxin alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29379198 |
|
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
|
|
G |
Lzts1 |
leucine zipper tumor suppressor 1 |
|
ISO |
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic |
ClinVar |
PMID:10097140 |
|
NCBI chr16:22,250,452...22,306,667
Ensembl chr16:22,250,470...22,306,662
|
|
G |
Mad2l1 |
mitotic arrest deficient 2 like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18691855 |
|
NCBI chr 4:97,530,993...97,543,179
Ensembl chr 4:97,531,083...97,537,086
|
|
G |
Mbd4 |
methyl-CpG binding domain 4 DNA glycosylase |
susceptibility |
ISO |
DNA:snp:cds:p.E346K (rs140693) (human) DNA:snp:intron:IVS5-140A>G (rs3138355) (human) |
RGD |
PMID:15205355, PMID:25162968 |
RGD:9588976, RGD:9588980 |
NCBI chr 4:147,744,673...147,756,462
Ensembl chr 4:147,746,186...147,756,294
|
|
G |
Mgmt |
O-6-methylguanine-DNA methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25520135 |
|
NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
|
|
G |
Mir217 |
microRNA 217 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25538231 |
|
NCBI chr14:113,119,529...113,119,633
Ensembl chr14:113,119,529...113,119,633
|
|
G |
Mir423 |
microRNA 423 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24205249 |
|
NCBI chr10:63,098,366...63,098,444
Ensembl chr10:63,098,360...63,098,453
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|
G |
Mt1 |
metallothionein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16543248 |
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NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
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G |
Nfe2l2 |
nuclear factor, erythroid 2-like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
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G |
Notch1 |
notch receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
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G |
Notch2 |
notch receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
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G |
Notch3 |
notch receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
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G |
Pfn1 |
profilin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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NCBI chr10:57,273,003...57,275,708
Ensembl chr10:57,273,005...57,275,708
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G |
Plce1 |
phospholipase C, epsilon 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20729852 PMID:20729853 |
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NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
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G |
Prdx1 |
peroxiredoxin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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NCBI chr 5:135,536,413...135,551,986
Ensembl chr 5:135,536,413...135,551,990
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G |
Psmb9 |
proteasome 20S subunit beta 9 |
disease_progression |
ISO |
|
RGD |
PMID:19492245 |
RGD:6482249 |
NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
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G |
Psme1 |
proteasome activator subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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NCBI chr15:34,256,071...34,258,947
Ensembl chr15:34,256,071...34,258,947
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G |
Psme2 |
proteasome activator subunit 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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NCBI chr15:34,265,552...34,269,851
Ensembl chr15:34,265,557...34,269,851
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15756444 PMID:16543248 PMID:18197933 |
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NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
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G |
Rnf6 |
ring finger protein 6 |
|
ISO |
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic |
ClinVar |
PMID:12154016 |
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NCBI chr12:10,574,168...10,583,196
Ensembl chr12:10,574,168...10,583,208
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G |
Sall4 |
spalt-like transcription factor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30431698 |
|
NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
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G |
Serpinb3 |
serpin family B member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr13:27,186,701...27,193,211
Ensembl chr13:27,187,130...27,192,592
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G |
Sfn |
stratifin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 5:151,823,422...151,824,937
Ensembl chr 5:151,823,887...151,824,633
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G |
Slc39a6 |
solute carrier family 39 member 6 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:23644492 |
|
NCBI chr18:16,523,450...16,543,992
Ensembl chr18:16,522,982...16,543,992
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G |
Slc52a3 |
solute carrier family 52 member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20729853 |
|
NCBI chr 3:147,503,266...147,517,935
Ensembl chr 3:147,511,406...147,516,455
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18167182 PMID:21517111 |
|
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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G |
Sox2 |
SRY-box transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19801978 |
|
NCBI chr 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
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G |
Sting1 |
stimulator of interferon response cGAMP interactor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25129146 |
|
NCBI chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
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G |
Sult1a1 |
sulfotransferase family 1A member 1 |
|
ISO |
DNA:SNP:exon:p.R213H, 638G>A (human) |
RGD |
PMID:12455060 |
RGD:1581448 |
NCBI chr 1:198,100,586...198,104,106
Ensembl chr 1:198,100,586...198,104,109
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G |
Tagln |
transgelin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 8:50,222,895...50,228,369
Ensembl chr 8:50,222,896...50,231,357
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G |
Tap1 |
transporter 1, ATP binding cassette subfamily B member |
|
ISO |
protein:decreased expression:esophagus |
RGD |
PMID:19492245 |
RGD:6482249 |
NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
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G |
Tap2 |
transporter 2, ATP binding cassette subfamily B member |
|
ISO |
protein:decreased expression:esophagus |
RGD |
PMID:19492245 |
RGD:6482249 |
NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
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G |
Tcn2 |
transcobalamin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29379198 |
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NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
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G |
Tnfaip8 |
TNF alpha induced protein 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21969086 |
|
NCBI chr18:44,664,310...44,779,914
Ensembl chr18:44,716,226...44,779,914
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G |
Tnxb |
tenascin XB |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29379198 |
|
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G |
Tp53 |
tumor protein p53 |
|
ISO |
DNA:misssense mutation: :p.R72P (rs1042522) (human) CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16543248 PMID:25151357, PMID:28789369 |
RGD:14995932 |
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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G |
Tpi1 |
triosephosphate isomerase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
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G |
Tpm1 |
tropomyosin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
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G |
Tpm2 |
tropomyosin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
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G |
Txndc17 |
thioredoxin domain containing 17 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr10:58,776,792...58,779,764
Ensembl chr10:58,776,792...58,779,764
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G |
Tymp |
thymidine phosphorylase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11641616 |
|
NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
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G |
Uty |
ubiquitously transcribed tetratricopeptide repeat containing, Y-linked |
|
ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:25151357 |
RGD:9588233 |
NCBI chr Y:1,065,274...1,206,127
Ensembl chr Y:989,240...1,206,096
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G |
Wrap53 |
WD repeat containing, antisense to TP53 |
disease_progression |
ISO |
|
RGD |
PMID:24626331 |
RGD:21081532 |
NCBI chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857
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G |
Wwox |
WW domain-containing oxidoreductase |
|
ISO |
esophageal squamous cell carcinoma, OMIM:133239 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic |
CTD ClinVar |
PMID:11956080 PMID:25526675, PMID:11956080 |
RGD:1599874 |
NCBI chr19:46,761,353...47,695,247
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G |
Xrcc1 |
X-ray repair cross complementing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16639733 |
|
NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
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G |
Zcchc12 |
zinc finger CCHC-type containing 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30431698 |
|
NCBI chr X:122,808,581...122,811,790
Ensembl chr X:122,808,605...122,811,789
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G |
Akt1 |
AKT serine/threonine kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17942926 |
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NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
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G |
Apc |
APC regulator of WNT signaling pathway |
|
ISO IMP |
ClinVar Annotator: match by term: Familial multiple polyposis syndrome ClinVar Annotator: match by term: APC-Associated Polyposis Disorders ClinVar Annotator: match by term: MYH-associated polyposis ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL ClinVar Annotator: match by term: Familial adenomatous polyposis ClinVar Annotator: match by term: Adenomatous polyposis coli ClinVar Annotator: match by term: Familial adenomatous polyposis 1 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial Adenomatous Polyposis ClinVar Annotator: match by OMIM:175100 DNA:point mutation:CDS:p.K1137X (3409A>T) (rat) |
ClinVar CTD |
PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1528264 PMID:1651563 PMID:1944466 PMID:2000873 PMID:2281069 PMID:2472832 PMID:2478327 PMID:7562975 PMID:7833936 PMID:8071957 PMID:8103406 PMID:8111416 PMID:8125478 PMID:8162022 PMID:8187091 PMID:8252630 PMID:8381579 PMID:8381580 PMID:8381581 PMID:8395941 PMID:8625067 PMID:8730280 PMID:8834176 PMID:8931709 PMID:8940262 PMID:8990002 PMID:9101302 PMID:9288102 PMID:9342373 PMID:9375853 PMID:9487968 PMID:9585599 PMID:9585611 PMID:9664575 PMID:9724771 PMID:9731522 PMID:9731533 PMID:9751605 PMID:9824584 PMID:9831355 PMID:9869602 PMID:9869603 PMID:9869620 PMID:9916927 PMID:9950360 PMID:9973276 PMID:10083733 PMID:10094547 PMID:10439961 PMID:10470088 PMID:10598803 PMID:10612827 PMID:10646887 PMID:10679643 PMID:10713886 PMID:10737725 PMID:10737795 PMID:10768871 PMID:10938175 PMID:10982189 PMID:11001924 PMID:11040535 PMID:11159880 PMID:11207040 PMID:11247895 PMID:11247896 PMID:11257105 PMID:11317365 PMID:11354631 PMID:11420398 PMID:11588890 PMID:11606402 PMID:11741105 PMID:11748858 PMID:11766074 PMID:11818965 PMID:11904335 PMID:11933206 PMID:11960572 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12093899 PMID:12172928 PMID:12173026 PMID:12173321 PMID:12357334 PMID:12374230 PMID:12394442 PMID:12408524 PMID:12486240 PMID:12494469 PMID:12533824 PMID:12581900 PMID:12901799 PMID:14523376 PMID:14574009 PMID:14578138 PMID:14616385 PMID:14624392 PMID:14633595 PMID:14695993 PMID:14729851 PMID:14961559 PMID:15024739 PMID:15108286 PMID:15108288 PMID:15122587 PMID:15133491 PMID:15300576 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15689459 PMID:15712637 PMID:15771908 PMID:15824157 PMID:15833136 PMID:15857185 PMID:15929773 PMID:15951963 PMID:16088911 PMID:16110024 PMID:16134147 PMID:16140997 PMID:16199547 PMID:16228836 PMID:16292097 PMID:16317745 PMID:16454848 PMID:16461775 PMID:16569251 PMID:16650078 PMID:16843107 PMID:16875934 PMID:17064931 PMID:17119068 PMID:17135589 PMID:17293347 PMID:17411426 PMID:17489848 PMID:17568392 PMID:17604324 PMID:17785554 PMID:17854661 PMID:17920230 PMID:17942926 PMID:17963004 PMID:18063416 PMID:18199528 PMID:18343606 PMID:18433509 PMID:18612690 PMID:18632633 PMID:18704758 PMID:18794146 PMID:18844223 PMID:18948947 PMID:18992635 PMID:19029688 PMID:19036155 PMID:19047896 PMID:19196998 PMID:19336753 PMID:19444466 PMID:19474113 PMID:19531215 PMID:19701947 PMID:19725996 PMID:19768578 PMID:19793053 PMID:19888426 PMID:20223039 PMID:20233475 PMID:20301519 PMID:20333795 PMID:20434453 PMID:20510605 PMID:20564245 PMID:20649969 PMID:20685668 PMID:20924072 PMID:20977806 PMID:21110124 PMID:21153778 PMID:21643010 PMID:21653199 PMID:21779980 PMID:21859464 PMID:21901162 PMID:21902576 PMID:21970370 PMID:21995669 PMID:21995949 PMID:22000517 PMID:22135120 PMID:22150579 PMID:22431159 PMID:22675565 PMID:22703879 PMID:22722839 PMID:22773231 PMID:22810696 PMID:22851115 PMID:22875147 PMID:22941256 PMID:22987206 PMID:22995991 PMID:23159591 PMID:23204322 PMID:23292937 PMID:23460355 PMID:23561487 PMID:23576677 PMID:23700467 PMID:23709753 PMID:23846443 PMID:23896379 PMID:23910461 PMID:23970361 PMID:24033266 PMID:24039736 PMID:24055113 PMID:24123366 PMID:24310308 PMID:24416237 PMID:24448499 PMID:24470207 PMID:24498620 PMID:24549056 PMID:24573554 PMID:24599579 PMID:24651453 PMID:24664542 PMID:24728327 PMID:24735542 PMID:24790607 PMID:24841357 PMID:24861525 PMID:25142776 PMID:25157968 PMID:25159915 PMID:25178641 PMID:25186627 PMID:25200834 PMID:25203624 PMID:25280562 PMID:25326637 PMID:25479140 PMID:25490678 PMID:25525159 PMID:25559809 PMID:25590978 PMID:25604157 PMID:25637381 PMID:25710373 PMID:25722345 PMID:25741868 PMID:25801821 PMID:25832318 PMID:25925381 PMID:25941542 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26138249 PMID:26161710 PMID:26173098 PMID:26187149 PMID:26252958 PMID:26300997 PMID:26314409 PMID:26332594 PMID:26373296 PMID:26394139 PMID:26421687 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26493165 PMID:26508446 PMID:26517685 PMID:26580448 PMID:26613750 PMID:26625971 PMID:26681312 PMID:26692440 PMID:26822149 PMID:26837502 PMID:26840078 PMID:26845104 PMID:26900293 PMID:26917275 PMID:26976419 PMID:27000756 PMID:27028212 PMID:27081525 PMID:27121310 PMID:27124905 PMID:27146957 PMID:27150160 PMID:27153395 PMID:27156442 PMID:27354939 PMID:27435373 PMID:27443514 PMID:27535533 PMID:27574554 PMID:27600092 PMID:27623068 PMID:27696107 PMID:27878467 PMID:27930734 PMID:27978560 PMID:28050010 PMID:28125075 PMID:28127413 PMID:28135136 PMID:28135145 PMID:28202063 PMID:28283864 PMID:28349240 PMID:28414304 PMID:28492532 PMID:28502729 PMID:28503720 PMID:28533537 PMID:28576136 PMID:28608266 PMID:28749474 PMID:28828701 PMID:28873162 PMID:29029407 PMID:29122597 PMID:29367705 PMID:29368261 PMID:29386312 PMID:29406563 PMID:29478780 PMID:29506128 PMID:29562902 PMID:29641532 PMID:29684080 PMID:29901124 PMID:29915797 PMID:29945567 PMID:29961768 PMID:29987844 PMID:30152102 PMID:30256826 PMID:30267214 PMID:30374176 PMID:30426508 PMID:30487145 PMID:30613976 PMID:30680046 PMID:30897307 PMID:31113927 PMID:31428572, PMID:18432252, PMID:17360473, PMID:15118671 |
RGD:2293188, RGD:1601201, RGD:1331525 |
NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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G |
ApcPirc |
APC, WNT signaling pathway regulator; polyposis in the rat colon |
|
IMP |
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RGD |
PMID:17360473 |
RGD:1601201 |
|
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G |
Cd44 |
CD44 molecule (Indian blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28255344 |
|
NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
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G |
Cyp26a1 |
cytochrome P450, family 26, subfamily a, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16885356 |
|
NCBI chr 1:256,382,861...256,386,729
Ensembl chr 1:256,382,791...256,386,729
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G |
Egfr |
epidermal growth factor receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25200834 |
|
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
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G |
Eif2b3 |
eukaryotic translation initiation factor 2B subunit gamma |
|
ISO |
ClinVar Annotator: match by term: MYH-associated polyposis |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:135,882,946...135,949,276
Ensembl chr 5:135,882,967...135,949,818
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G |
F5 |
coagulation factor V |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25200834 |
|
NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
|
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G |
Fmo3 |
flavin containing dimethylaniline monoxygenase 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17559352 |
|
NCBI chr13:80,837,418...80,856,214
Ensembl chr13:80,837,420...80,862,963
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G |
Grem1 |
gremlin 1, DAN family BMP antagonist |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561515 |
|
NCBI chr 3:105,203,309...105,214,989
Ensembl chr 3:105,203,309...105,214,989
|
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G |
Hdac2 |
histone deacetylase 2 |
treatment |
ISO |
|
RGD |
PMID:24218540 |
RGD:9590246 |
NCBI chr20:43,084,870...43,108,198
Ensembl chr20:43,084,870...43,108,198
|
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G |
Hectd3 |
HECT domain E3 ubiquitin protein ligase 3 |
|
ISO |
ClinVar Annotator: match by term: MYH-associated polyposis |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:135,860,578...135,870,535
Ensembl chr 5:135,860,675...135,868,495
|
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G |
Hpdl |
4-hydroxyphenylpyruvate dioxygenase-like |
|
ISO |
ClinVar Annotator: match by term: MYH-associated polyposis |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:135,675,826...135,677,432
Ensembl chr 5:135,675,832...135,677,432
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G |
Ihh |
Indian hedgehog signaling molecule |
|
ISO |
|
RGD |
PMID:25307863 |
RGD:11528847 |
NCBI chr 9:82,208,223...82,214,440
Ensembl chr 9:82,208,223...82,214,440
|
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G |
Itih4 |
inter-alpha-trypsin inhibitor heavy chain 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25200834 |
|
NCBI chr16:6,970,367...6,985,538
Ensembl chr16:6,970,342...6,985,579
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G |
Lrg1 |
leucine-rich alpha-2-glycoprotein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25200834 |
|
NCBI chr 9:10,952,424...10,954,664
Ensembl chr 9:10,952,374...10,954,681
|
|
G |
Mcc |
MCC regulator of WNT signaling pathway |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8071957 |
|
NCBI chr18:35,683,185...35,817,117 NCBI chr 1:12,006,663...12,128,849
Ensembl chr 1:12,006,660...12,128,845 Ensembl chr18:12,006,660...12,128,845
|
|
G |
Mir155 |
microRNA 155 |
|
ISO |
miRNA:decreased expression:colon |
RGD |
PMID:30072583 |
RGD:21409749 |
NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
|
|
G |
Msh3 |
mutS homolog 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 2:21,790,048...21,931,791
Ensembl chr 2:21,790,044...21,931,720
|
|
G |
Mutyh |
mutY DNA glycosylase |
|
ISO |
ClinVar Annotator: match by term: MYH-associated polyposis ClinVar Annotator: match by term: Adenomatous polyposis coli CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:2084865 PMID:3561487 PMID:9846876 PMID:10612827 PMID:11092888 PMID:11295288 PMID:11433026 PMID:11801590 PMID:11818965 PMID:11864576 PMID:12056405 PMID:12393807 PMID:12606733 PMID:12707038 PMID:12853198 PMID:14579148 PMID:14618256 PMID:14633673 PMID:14991577 PMID:14999774 PMID:15034862 PMID:15180946 PMID:15188161 PMID:15236166 PMID:15326180 PMID:15366000 PMID:15465463 PMID:15523092 PMID:15635083 PMID:15673720 PMID:15690400 PMID:15761860 PMID:15890374 PMID:15931596 PMID:15943555 PMID:15987719 PMID:16042573 PMID:16134146 PMID:16134147 PMID:16140997 PMID:16207212 PMID:16234049 PMID:16287072 PMID:16338133 PMID:16408224 PMID:16455870 PMID:16492921 PMID:16557584 PMID:16616356 PMID:16645203 PMID:16774938 PMID:16890597 PMID:16929514 PMID:16941501 PMID:16996809 PMID:17031395 PMID:17081686 PMID:17122612 PMID:17161978 PMID:17207658 PMID:17219200 PMID:17219385 PMID:17252231 PMID:17273161 PMID:17368238 PMID:17369389 PMID:17489848 PMID:17524638 PMID:17581577 PMID:17674103 PMID:17703316 PMID:17874208 PMID:17931073 PMID:17949294 PMID:17956577 PMID:18091433 PMID:18172263 PMID:18271935 PMID:18294051 PMID:18301448 PMID:18414213 PMID:18422726 PMID:18433509 PMID:18495334 PMID:18506705 PMID:18515411 PMID:18534194 PMID:18564191 PMID:18776649 PMID:18787472 PMID:18811933 PMID:18992148 PMID:19032956 PMID:19245865 PMID:19279422 PMID:19300419 PMID:19338676 PMID:19394335 PMID:19414147 PMID:19443904 PMID:19479711 PMID:19506731 PMID:19527492 PMID:19531215 PMID:19725997 PMID:19732775 PMID:19793053 PMID:19806110 PMID:19836313 PMID:19841264 PMID:19902366 PMID:19953527 PMID:19998059 PMID:20063264 PMID:20110747 PMID:20191381 PMID:20223003 PMID:20418187 PMID:20571908 PMID:20618354 PMID:20628285 PMID:20663686 PMID:20687945 PMID:20725929 PMID:20816984 PMID:20848659 PMID:21061173 PMID:21063410 PMID:21078199 PMID:21153778 PMID:21167187 PMID:21171015 PMID:21178863 PMID:21195604 PMID:21235684 PMID:21287799 PMID:21443744 PMID:21520333 PMID:21777424 PMID:21815886 PMID:21952991 PMID:21962078 PMID:22158503 PMID:22252118 PMID:22266422 PMID:22297469 PMID:22402879 PMID:22473953 PMID:22538434 PMID:22641385 PMID:22703879 PMID:22722201 PMID:22744763 PMID:22773231 PMID:22865608 PMID:22922830 PMID:22926731 PMID:22976915 PMID:23007840 PMID:23035301 PMID:23108399 PMID:23322991 PMID:23361220 PMID:23383274 PMID:23460355 PMID:23507534 PMID:23561487 PMID:23605219 PMID:23621914 PMID:23625202 PMID:23729658 PMID:23805267 PMID:23820649 PMID:24033266 PMID:24039736 PMID:24082139 PMID:24278394 PMID:24377541 PMID:24444654 PMID:24470512 PMID:24556621 PMID:24569162 PMID:24691292 PMID:24728327 PMID:24733792 PMID:24763289 PMID:24799981 PMID:24834277 PMID:24953332 PMID:25151137 PMID:25186627 PMID:25197429 PMID:25307848 PMID:25318351 PMID:25326637 PMID:25368107 PMID:25503501 PMID:25525159 PMID:25559809 PMID:25569433 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25820570 PMID:25856671 PMID:25892863 PMID:25927356 PMID:25937855 PMID:25938944 PMID:25957691 PMID:25980754 PMID:26138249 PMID:26202870 PMID:26296696 PMID:26300997 PMID:26332594 PMID:26377631 PMID:26436112 PMID:26446593 PMID:26467025 PMID:26511139 PMID:26556299 PMID:26580448 PMID:26600934 PMID:26615199 PMID:26632267 PMID:26673696 PMID:26681312 PMID:26684191 PMID:26689913 PMID:26694661 PMID:26822237 PMID:26824983 PMID:26837502 PMID:26845104 PMID:26900293 PMID:26902849 PMID:26944241 PMID:26947005 PMID:26976419 PMID:27077130 PMID:27145315 PMID:27153395 PMID:27194394 PMID:27276934 PMID:27377421 PMID:27443514 PMID:27498913 PMID:27600092 PMID:27696107 PMID:27705013 PMID:27799157 PMID:27829682 PMID:27870730 PMID:27978560 PMID:28087410 PMID:28127763 PMID:28135048 PMID:28135145 PMID:28141798 PMID:28152038 PMID:28166811 PMID:28195393 PMID:28199314 PMID:28202063 PMID:28243543 PMID:28251689 PMID:28332257 PMID:28349240 PMID:28445943 PMID:28492532 PMID:28495237 PMID:28502729 PMID:28526081 PMID:28533537 PMID:28577310 PMID:28634180 PMID:28644590 PMID:28717660 PMID:28726808 PMID:28861346 PMID:28873161 PMID:28873162 PMID:28944238 PMID:28961279 PMID:29093764 PMID:29330641 PMID:29368341 PMID:29371908 PMID:29406563 PMID:29431110 PMID:29458332 PMID:29478780 PMID:29484706 PMID:29641532 PMID:29667044 PMID:29684080 PMID:29879026 PMID:29915346 PMID:29967336 PMID:30093976 PMID:30151275 PMID:30256826 PMID:30267214 PMID:30333958 PMID:30374176 PMID:30487145 PMID:30564557 PMID:30604180 PMID:30719162 PMID:30833417 PMID:30836094 PMID:30850667 PMID:30982232 PMID:31062380 PMID:31104418 PMID:31159747 PMID:31220976 PMID:31273614 PMID:31285513 PMID:31360874 PMID:31575519 PMID:31742824 PMID:31921681, PMID:11818965 |
RGD:1600191 |
NCBI chr 5:135,663,328...135,675,348
Ensembl chr 5:135,663,371...135,675,344
|
|
G |
Nthl1 |
nth-like DNA glycosylase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25938944 |
|
NCBI chr10:13,996,660...14,002,827
Ensembl chr10:13,996,645...14,002,910
|
|
G |
Ptch2 |
patched 2 |
|
ISO |
ClinVar Annotator: match by term: MYH-associated polyposis |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:135,962,252...135,983,816
Ensembl chr 5:135,962,911...135,983,816
|
|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17942926 |
|
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
|
|
G |
Scg5 |
secretogranin V |
|
ISO |
ClinVar Annotator: match by term: Hereditary Mixed Polyposis |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:105,235,065...105,279,475
Ensembl chr 3:105,235,050...105,279,462
|
|
G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12907644 |
|
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
|
|
G |
Toe1 |
target of EGR1, exonuclease |
|
ISO |
ClinVar Annotator: match by term: MYH-associated polyposis |
ClinVar |
PMID:12056405 PMID:14618256 PMID:15180946 PMID:18271935 PMID:18776649 PMID:20725929 PMID:22473953 PMID:25186627 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 5:135,659,733...135,663,299
Ensembl chr 5:135,659,734...135,663,299
|
|
G |
Urod |
uroporphyrinogen decarboxylase |
|
ISO |
ClinVar Annotator: match by term: MYH-associated polyposis |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:135,855,429...135,859,515
Ensembl chr 5:135,855,433...135,859,643
|
|
G |
Zswim5 |
zinc finger, SWIM-type containing 5 |
|
ISO |
ClinVar Annotator: match by term: MYH-associated polyposis |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:135,735,825...135,854,525
Ensembl chr 5:135,735,825...135,852,575
|
|
|
G |
Apc |
APC regulator of WNT signaling pathway |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar OMIM |
PMID:1316610 PMID:1317264 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1528264 PMID:1651174 PMID:1651563 PMID:1678319 PMID:1843350 PMID:1944466 PMID:2068568 PMID:2281069 PMID:2472832 PMID:2478327 PMID:7485167 PMID:7490101 PMID:7562975 PMID:7746201 PMID:7797123 PMID:7833149 PMID:7833931 PMID:7833936 PMID:7853377 PMID:7951218 PMID:7959691 PMID:8019566 PMID:8103406 PMID:8111410 PMID:8111416 PMID:8125478 PMID:8162022 PMID:8162051 PMID:8187091 PMID:8252630 PMID:8252631 PMID:8381579 PMID:8381580 PMID:8381581 PMID:8390900 PMID:8395941 PMID:8594558 PMID:8625067 PMID:8730280 PMID:8834176 PMID:8835324 PMID:8844222 PMID:8888441 PMID:8910893 PMID:8931709 PMID:8940262 PMID:8956059 PMID:8990002 PMID:9067764 PMID:9101302 PMID:9288102 PMID:9298819 PMID:9341879 PMID:9342373 PMID:9343467 PMID:9375853 PMID:9382065 PMID:9452101 PMID:9487968 PMID:9585599 PMID:9585611 PMID:9603437 PMID:9664575 PMID:9669663 PMID:9724771 PMID:9731522 PMID:9731533 PMID:9751605 PMID:9824584 PMID:9831355 PMID:9843214 PMID:9869602 PMID:9869603 PMID:9869620 PMID:9916927 PMID:9950360 PMID:9973276 PMID:10077047 PMID:10083733 PMID:10090483 PMID:10094547 PMID:10439961 PMID:10470088 PMID:10494086 PMID:10562580 PMID:10598803 PMID:10612827 PMID:10646887 PMID:10666372 PMID:10679643 PMID:10713886 PMID:10737725 PMID:10737795 PMID:10768871 PMID:10811618 PMID:10923044 PMID:10938175 PMID:10982189 PMID:11001924 PMID:11159880 PMID:11207040 PMID:11247895 PMID:11247896 PMID:11257105 PMID:11317365 PMID:11354631 PMID:11606402 PMID:11707392 PMID:11741105 PMID:11748858 PMID:11754114 PMID:11768389 PMID:11818965 PMID:11839722 PMID:11852337 PMID:11896079 PMID:11904335 PMID:11933206 PMID:11960572 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12093899 PMID:12136240 PMID:12172928 PMID:12173026 PMID:12173321 PMID:12357334 PMID:12374230 PMID:12486240 PMID:12503191 PMID:12533824 PMID:12581900 PMID:12702169 PMID:12901799 PMID:14514668 PMID:14522379 PMID:14523376 PMID:14574009 PMID:14578138 PMID:14616385 PMID:14624392 PMID:14633595 PMID:14695993 PMID:14729851 PMID:14961559 PMID:14966376 PMID:14999774 PMID:15024739 PMID:15095859 PMID:15108286 PMID:15108288 PMID:15122587 PMID:15131404 PMID:15133491 PMID:15300576 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15712637 PMID:15771908 PMID:15824157 PMID:15833136 PMID:15857185 PMID:15929773 PMID:15951963 PMID:15952110 PMID:16088911 PMID:16111973 PMID:16134147 PMID:16140997 PMID:16199547 PMID:16228836 PMID:16292097 PMID:16317745 PMID:16454848 PMID:16461775 PMID:16569251 PMID:16616356 PMID:16650078 PMID:16680592 PMID:16736293 PMID:16843107 PMID:16875934 PMID:16883523 PMID:17064931 PMID:17119068 PMID:17135589 PMID:17230660 PMID:17293347 PMID:17411426 PMID:17426470 PMID:17486639 PMID:17489848 PMID:17568392 PMID:17604324 PMID:17785554 PMID:17854661 PMID:17920230 PMID:17963004 PMID:18063416 PMID:18166348 PMID:18199528 PMID:18224684 PMID:18343606 PMID:18369740 PMID:18387968 PMID:18406876 PMID:18433509 PMID:18487285 PMID:18612690 PMID:18629394 PMID:18794146 PMID:18844223 PMID:18948947 PMID:18992635 PMID:19029688 PMID:19036155 PMID:19047896 PMID:19111562 PMID:19196998 PMID:19279422 PMID:19331226 PMID:19336753 PMID:19444466 PMID:19474113 PMID:19506109 PMID:19531215 PMID:19701947 PMID:19725996 PMID:19768578 PMID:19793053 PMID:19888426 PMID:20033787 PMID:20223039 PMID:20233475 PMID:20301519 PMID:20333795 PMID:20434453 PMID:20510605 PMID:20513532 PMID:20564245 PMID:20649969 PMID:20682701 PMID:20685668 PMID:20924072 PMID:20977806 PMID:21078199 PMID:21110124 PMID:21142386 PMID:21153778 PMID:21476993 PMID:21520333 PMID:21643010 PMID:21646762 PMID:21653199 PMID:21779980 PMID:21813476 PMID:21859464 PMID:21901162 PMID:21902576 PMID:21970370 PMID:21995949 PMID:22000517 PMID:22027476 PMID:22135120 PMID:22150579 PMID:22164339 PMID:22395475 PMID:22425061 PMID:22431159 PMID:22434720 PMID:22585170 PMID:22645652 PMID:22669205 PMID:22675565 PMID:22703879 PMID:22722839 PMID:22773231 PMID:22799487 PMID:22810696 PMID:22851115 PMID:22863191 PMID:22875147 PMID:22941256 PMID:22976915 PMID:22987206 PMID:22995991 PMID:23085758 PMID:23159591 PMID:23204322 PMID:23244118 PMID:23292937 PMID:23348723 PMID:23460355 PMID:23484150 PMID:23561487 PMID:23571587 PMID:23575299 PMID:23576677 PMID:23700467 PMID:23709753 PMID:23715166 PMID:23725351 PMID:23757202 PMID:23846443 PMID:23896379 PMID:23910461 PMID:23970361 PMID:24033266 PMID:24039736 PMID:24055113 PMID:24082139 PMID:24123366 PMID:24310308 PMID:24326041 PMID:24416237 PMID:24448499 PMID:24470207 PMID:24498620 PMID:24506336 PMID:24518971 PMID:24549056 PMID:24573554 PMID:24599579 PMID:24618431 PMID:24651453 PMID:24664542 PMID:24728327 PMID:24735542 PMID:24750145 PMID:24755471 PMID:24763289 PMID:24790607 PMID:24841357 PMID:24861525 PMID:24946964 PMID:25142776 PMID:25148578 PMID:25157968 PMID:25178641 PMID:25186627 PMID:25203624 PMID:25243319 PMID:25256751 PMID:25257991 PMID:25318351 PMID:25326637 PMID:25338684 PMID:25479140 PMID:25490678 PMID:25525159 PMID:25559809 PMID:25590978 PMID:25604157 PMID:25637381 PMID:25676610 PMID:25710373 PMID:25722345 PMID:25741868 PMID:25742471 PMID:25778705 PMID:25801821 PMID:25819062 PMID:25832318 PMID:25925381 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26138249 PMID:26161710 PMID:26163615 PMID:26173098 PMID:26178707 PMID:26187149 PMID:26207792 PMID:26252958 PMID:26300997 PMID:26309368 PMID:26314409 PMID:26320869 PMID:26332594 PMID:26336887 PMID:26338694 PMID:26373296 PMID:26378065 PMID:26394139 PMID:26414517 PMID:26416840 PMID:26421687 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26480326 PMID:26486734 PMID:26493165 PMID:26508446 PMID:26510091 PMID:26511139 PMID:26517685 PMID:26530882 PMID:26580448 PMID:26613750 PMID:26625971 PMID:26643872 PMID:26667234 PMID:26681312 PMID:26690363 PMID:26692440 PMID:26787237 PMID:26819281 PMID:26822149 PMID:26837502 PMID:26840078 PMID:26845104 PMID:26862949 PMID:26900293 PMID:26917275 PMID:26933808 PMID:26976419 PMID:27000756 PMID:27028212 PMID:27077911 PMID:27081525 PMID:27087319 PMID:27121310 PMID:27124905 PMID:27146957 PMID:27150160 PMID:27153395 PMID:27156442 PMID:27158207 PMID:27217144 PMID:27260402 PMID:27282352 PMID:27284491 PMID:27329244 PMID:27343414 PMID:27354939 PMID:27391059 PMID:27435373 PMID:27443514 PMID:27535533 PMID:27574554 PMID:27600092 PMID:27623068 PMID:27647783 PMID:27684187 PMID:27696107 PMID:27705013 PMID:27717299 PMID:27760322 PMID:27852271 PMID:27878467 PMID:27882345 PMID:27908614 PMID:27930734 PMID:27978560 PMID:27997549 PMID:28050010 PMID:28051113 PMID:28057616 PMID:28125075 PMID:28127413 PMID:28135136 PMID:28135145 PMID:28157215 PMID:28185118 PMID:28195393 PMID:28195569 PMID:28196074 PMID:28202063 PMID:28283864 PMID:28301460 PMID:28380452 PMID:28423518 PMID:28492532 PMID:28502729 PMID:28503720 PMID:28524162 PMID:28526081 PMID:28528518 PMID:28533537 PMID:28548127 PMID:28576136 PMID:28608266 PMID:28717660 PMID:28726808 PMID:28744403 PMID:28749474 PMID:28805986 PMID:28828701 PMID:28873162 PMID:28891274 PMID:28944238 PMID:29029407 PMID:29050249 PMID:29112017 PMID:29122597 PMID:29212164 PMID:29237405 PMID:29367705 PMID:29368261 PMID:29368341 PMID:29371908 PMID:29386312 PMID:29406563 PMID:29478780 PMID:29485843 PMID:29506128 PMID:29517769 PMID:29562902 PMID:29641532 PMID:29684080 PMID:29723602 PMID:29868112 PMID:29901124 PMID:29915797 PMID:29945567 PMID:29954149 PMID:29961768 PMID:29968043 PMID:29987844 PMID:30086788 PMID:30093976 PMID:30111351 PMID:30122538 PMID:30152102 PMID:30239046 PMID:30256826 PMID:30267214 PMID:30306255 PMID:30324682 PMID:30374176 PMID:30426508 PMID:30487145 PMID:30613976 PMID:30680046 PMID:30696621 PMID:30705875 PMID:30833958 PMID:30897307 PMID:30981987 PMID:31062380 PMID:31113927 PMID:31159747 PMID:31175917 PMID:31186761 PMID:31269945 PMID:31273614 PMID:31285513 PMID:31422818 PMID:31428572 PMID:31486992 PMID:31547467 PMID:31703593 PMID:31921681 PMID:32251017 PMID:32283892 PMID:32860008 |
|
NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
|
|
G |
Reep5 |
receptor accessory protein 5 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:12136240 |
|
NCBI chr18:27,128,462...27,159,693
Ensembl chr18:27,128,464...27,159,693
|
|
G |
Srp19 |
signal recognition particle 19 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:12136240 |
|
NCBI chr18:27,114,822...27,121,062
Ensembl chr18:27,114,822...27,121,059
|
|
|
G |
Mutyh |
mutY DNA glycosylase |
|
ISO |
ClinVar Annotator: match by term: ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE |
OMIM ClinVar |
PMID:11818965 PMID:12393807 PMID:12606733 PMID:15635083 PMID:15890374 PMID:15931596 PMID:15987719 PMID:16140997 PMID:16492921 PMID:16557584 PMID:16616356 PMID:16890597 PMID:17219385 PMID:17273161 PMID:17368238 PMID:17369389 PMID:17489848 PMID:17674103 PMID:17703316 PMID:17949294 PMID:17956577 PMID:18091433 PMID:18506705 PMID:18534194 PMID:18564191 PMID:19032956 PMID:19245865 PMID:19279422 PMID:19394335 PMID:19506731 PMID:19732775 PMID:19793053 PMID:19836313 PMID:19953527 PMID:19998059 PMID:20063264 PMID:20191381 PMID:20418187 PMID:20618354 PMID:20848659 PMID:21063410 PMID:21171015 PMID:21178863 PMID:21815886 PMID:21952991 PMID:22158503 PMID:22266422 PMID:22297469 PMID:22473953 PMID:22703879 PMID:22744763 PMID:22865608 PMID:22926731 PMID:22976915 PMID:23007840 PMID:23035301 PMID:23108399 PMID:23322991 PMID:23361220 PMID:23507534 PMID:23561487 PMID:23625202 PMID:23805267 PMID:24033266 PMID:24082139 PMID:24278394 PMID:24444654 PMID:24569162 PMID:24691292 PMID:24728327 PMID:24953332 PMID:25525159 PMID:25741868 PMID:25820570 PMID:25937855 PMID:26467025 PMID:26822237 PMID:26845104 PMID:27153395 PMID:27705013 PMID:27829682 PMID:28141798 PMID:28152038 PMID:28492532 PMID:28634180 PMID:28944238 PMID:29330641 PMID:30487145 |
|
NCBI chr 5:135,663,328...135,675,348
Ensembl chr 5:135,663,371...135,675,344
|
|
|
G |
Nthl1 |
nth-like DNA glycosylase 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 3 |
OMIM ClinVar |
PMID:12144783 PMID:18515411 PMID:20054297 PMID:25741868 PMID:25938944 PMID:26431160 PMID:26559593 PMID:26649986 PMID:27713038 PMID:27720914 PMID:28492532 PMID:30552997 PMID:31227763 PMID:31285513 |
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NCBI chr10:13,996,660...14,002,827
Ensembl chr10:13,996,645...14,002,910
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Dhfr |
dihydrofolate reductase |
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ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 4 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:21,931,887...21,958,927
Ensembl chr 2:21,931,493...21,962,453
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Msh3 |
mutS homolog 3 |
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ISO |
ClinVar Annotator: match by term: FAMILIAL ADENOMATOUS POLYPOSIS 4 ClinVar Annotator: match by term: Familial adenomatous polyposis 4 |
ClinVar OMIM |
PMID:8782829 PMID:21128252 PMID:22179786 PMID:25741868 PMID:27476653 PMID:27712984 PMID:28492532 PMID:28875981 PMID:28944238 |
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NCBI chr 2:21,790,048...21,931,791
Ensembl chr 2:21,790,044...21,931,720
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Ace |
angiotensin I converting enzyme |
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ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:20488708 |
RGD:11039024 |
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Cand2 |
cullin-associated and neddylation-dissociated 2 (putative) |
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ISO |
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RGD |
PMID:31426861 |
RGD:18899564 |
NCBI chr 4:147,686,487...147,714,593
Ensembl chr 4:147,686,490...147,714,585
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Cdc73 |
cell division cycle 73 |
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ISO |
ClinVar Annotator: match by term: Cystic parathyroid adenoma |
ClinVar |
PMID:12434154 |
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NCBI chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
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Hnf1a |
HNF1 homeobox A |
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ISO |
ClinVar Annotator: match by term: Hepatic adenomas, familial |
OMIM ClinVar |
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 PMID:9166684 PMID:9313763 PMID:9439666 PMID:10333057 PMID:10447526 PMID:10754480 PMID:11058894 PMID:11315851 PMID:12050210 PMID:12355088 PMID:12530534 PMID:12574234 PMID:12618559 PMID:15649945 PMID:15928245 PMID:17054605 PMID:17407387 PMID:17440016 PMID:17573900 PMID:17937063 PMID:17989309 PMID:18414213 PMID:18672310 PMID:21051477 PMID:21628466 PMID:23551881 PMID:23607861 PMID:25174781 PMID:26467025 PMID:28862987 PMID:29417725 PMID:30814848 |
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NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
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Aip |
aryl-hydrocarbon receptor-interacting protein |
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ISO |
ClinVar Annotator: match by term: Familial Isolated Pituitary Adenomas ClinVar Annotator: match by term: Pituitary adenoma, familial isolated |
ClinVar |
PMID:26186299 |
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NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
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Gnai2 |
G protein subunit alpha i2 |
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ISO |
ClinVar Annotator: match by term: Familial Isolated Pituitary Adenomas |
ClinVar |
PMID:25741868 |
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NCBI chr 8:116,370,730...116,391,337
Ensembl chr 8:116,370,744...116,391,307
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Tgfbr1 |
transforming growth factor, beta receptor 1 |
susceptibility |
ISO |
ClinVar Annotator: match by OMIM:132800 ClinVar Annotator: match by term: Multiple self healing squamous epithelioma ClinVar Annotator: match by term: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:2647812 PMID:5173258 PMID:8499949 PMID:16928994 PMID:19542084 PMID:21358634 PMID:23884466 PMID:24033266 PMID:24793577 PMID:25110237 PMID:25741868 PMID:25834947 PMID:26848186 PMID:26877057 PMID:27611364 PMID:28492532 |
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NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
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Fosl1 |
FOS like 1, AP-1 transcription factor subunit |
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ISO |
mRNA, protein:increased expression:breast |
RGD |
PMID:17254320 |
RGD:2293756 |
NCBI chr 1:220,826,560...220,835,066
Ensembl chr 1:220,826,560...220,835,066
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Med12 |
mediator complex subunit 12 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25038752 PMID:26437033 |
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NCBI chr X:71,174,653...71,197,812
Ensembl chr X:71,174,699...71,197,812
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Rara |
retinoic acid receptor, alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437033 |
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NCBI chr10:86,838,819...86,884,224
Ensembl chr10:86,860,685...86,884,210
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Wnt2 |
Wnt family member 2 |
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ISO |
mRNA:increased expression:breast |
RGD |
PMID:8168088 |
RGD:2291878 |
NCBI chr 4:45,286,845...45,332,899
Ensembl chr 4:45,292,437...45,332,420
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Wnt4 |
Wnt family member 4 |
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ISO |
breast fibroadenoma |
RGD |
PMID:8168088 |
RGD:2291878 |
NCBI chr 5:155,649,238...155,668,065
Ensembl chr 5:155,649,217...155,672,579
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Kb15 |
type II keratin Kb15 |
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ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal |
ClinVar |
PMID:19609311 |
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NCBI chr 7:143,208,034...143,217,771
Ensembl chr 7:143,208,527...143,217,535
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Krt16 |
keratin 16 |
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ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal |
ClinVar |
PMID:8595410 PMID:16250206 PMID:25741868 |
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NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
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Krt16 |
keratin 16 |
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ISO |
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OMIM |
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NCBI chr10:88,149,210...88,152,167
Ensembl chr10:88,149,345...88,152,064
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Spata22 |
spermatogenesis associated 22 |
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ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2 |
ClinVar |
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NCBI chr10:59,893,064...59,910,769
Ensembl chr10:59,879,850...59,911,051
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Trpv3 |
transient receptor potential cation channel, subfamily V, member 3 |
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ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2 |
OMIM ClinVar |
PMID:21285946 PMID:24452206 PMID:25285920 PMID:25741868 PMID:28492532 PMID:28587736 |
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NCBI chr10:59,829,755...59,863,780
Ensembl chr10:59,831,241...59,860,987
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Minpp1 |
multiple inositol-polyphosphate phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Thyroid adenoma, follicular |
ClinVar |
PMID:11297621 |
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NCBI chr 1:251,045,352...251,071,045
Ensembl chr 1:251,045,440...251,071,040
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Bap1 |
Brca1 associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Ganglioglioma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
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Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Childhood ganglioglioma |
ClinVar |
PMID:19363522 PMID:19794125 PMID:21190184 PMID:21343559 PMID:21716161 PMID:22535154 PMID:24033266 |
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NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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Nf1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Ganglioglioma |
ClinVar |
PMID:7607663 PMID:16835897 PMID:16944272 PMID:19738042 PMID:24357598 PMID:25325900 PMID:25741868 PMID:26467025 PMID:27980226 PMID:28492532 |
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NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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Apc |
APC regulator of WNT signaling pathway |
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ISO |
ClinVar Annotator: match by null ClinVar Annotator: match by term: Gardner syndrome |
ClinVar |
PMID:1316610 PMID:1651563 PMID:2164769 PMID:2478327 PMID:7485167 PMID:8162051 PMID:8381579 PMID:8381580 PMID:8594558 PMID:9375853 PMID:9487968 PMID:9824584 PMID:9916927 PMID:10094547 PMID:10982189 PMID:11001924 PMID:11317365 PMID:11466687 PMID:12007223 PMID:12173026 PMID:14633595 PMID:15108286 PMID:15311282 PMID:16134147 PMID:16317745 PMID:17135589 PMID:17293347 PMID:18199528 PMID:18433509 PMID:20223039 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21779980 PMID:21859464 PMID:22000517 PMID:22135120 PMID:22703879 PMID:23159591 PMID:23561487 PMID:24033266 PMID:24728327 PMID:24790607 PMID:24841357 PMID:25142776 PMID:25637381 PMID:25741868 PMID:26332594 PMID:26467025 PMID:26613750 PMID:26845104 PMID:26917275 PMID:27435373 PMID:27930734 PMID:28492532 |
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NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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Wrap53 |
WD repeat containing, antisense to TP53 |
disease_progression |
ISO |
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RGD |
PMID:28849066 |
RGD:21081521 |
NCBI chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857
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G |
Aip |
aryl-hydrocarbon receptor-interacting protein |
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ISO |
ClinVar Annotator: match by OMIM:102200 ClinVar Annotator: match by term: Somatotroph adenoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:2200621 PMID:5320367 PMID:12213383 PMID:16728643 PMID:17242703 PMID:17244780 PMID:17299063 PMID:17341560 PMID:17360484 PMID:17371465 PMID:17609395 PMID:18381572 PMID:18484068 PMID:19366855 PMID:19474519 PMID:19556287 PMID:19955762 PMID:20354355 PMID:20457215 PMID:20506337 PMID:20507346 PMID:20530095 PMID:20570174 PMID:20595802 PMID:20685857 PMID:21208107 PMID:21340166 PMID:21348957 PMID:21454441 PMID:21512261 PMID:21753072 PMID:21984905 PMID:22287093 PMID:22319033 PMID:22720333 PMID:22915287 PMID:23038625 PMID:23038925 PMID:23300914 PMID:23321498 PMID:23371967 PMID:23633209 PMID:23743763 PMID:24033266 PMID:24050928 PMID:24423289 PMID:25019383 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25350067 PMID:25614825 PMID:25741868 PMID:26186299 PMID:26792934 PMID:27033541 PMID:27153395 PMID:27253664 PMID:27267386 PMID:27650164 PMID:28220018 PMID:28255869 PMID:28427099 PMID:28492532 PMID:28634279 PMID:29074612 PMID:29308445 PMID:29729370 PMID:30262796 PMID:30461320 PMID:30941100 PMID:32324286 |
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NCBI chr 1:219,361,859...219,373,924
Ensembl chr 1:219,361,860...219,374,014
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G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
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ISO |
protein:increased expression:pituitary gland: |
RGD |
PMID:18981426 |
RGD:8662821 |
NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
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Gh1 |
growth hormone 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1611713 PMID:2042694 |
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NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
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Gnas |
GNAS complex locus |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11254676 |
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NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
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Gpr101 |
G protein-coupled receptor 101 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr X:140,296,220...140,303,743
Ensembl chr X:140,299,770...140,303,686
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Hpgd |
15-hydroxyprostaglandin dehydrogenase |
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ISO |
mRNA:decreased expression:pituitary gland |
RGD |
PMID:22580984 |
RGD:11667097 |
NCBI chr16:37,457,134...37,495,758
Ensembl chr16:37,457,135...37,495,758
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Men1 |
menin 1 |
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ISS ISO |
OMIM:102200 ClinVar Annotator: match by term: Somatotroph adenoma |
MouseDO ClinVar |
PMID:30630164 |
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NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
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G |
Prl |
prolactin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2042694 |
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NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
mRNA:increased expression:pituitary gland |
RGD |
PMID:22580984 |
RGD:11667097 |
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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Gpr101 |
G protein-coupled receptor 101 |
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ISO |
ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2 |
OMIM ClinVar |
PMID:25470569 PMID:25806919 PMID:25806920 PMID:25806921 PMID:26792934 PMID:26815903 PMID:27245663 PMID:27498687 PMID:28492532 PMID:29389097 |
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NCBI chr X:140,296,220...140,303,743
Ensembl chr X:140,299,770...140,303,686
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Abcb1a |
ATP binding cassette subfamily B member 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25275603 |
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NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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G |
Abcc1 |
ATP binding cassette subfamily C member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25275603 |
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NCBI chr10:549,537...672,235
Ensembl chr10:549,883...672,196
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G |
Abcc2 |
ATP binding cassette subfamily C member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25275603 |
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NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
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G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25275603 |
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NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
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Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:11569495 PMID:11853795 PMID:12399961 PMID:12623848 PMID:14745431 PMID:19164531 PMID:19264234 PMID:19811824 PMID:21489624 PMID:23676790 PMID:24236021 PMID:25157968 PMID:31775759 |
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NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
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Akt1 |
AKT serine/threonine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23873848 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:26619011 PMID:28492532 |
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NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
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G |
Ankrd17 |
ankyrin repeat domain 17 |
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ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:28580594 |
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NCBI chr14:19,291,025...19,431,521
Ensembl chr14:19,318,565...19,431,515
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G |
Atp7b |
ATPase copper transporting beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12509969 |
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NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
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G |
B2m |
beta-2 microglobulin |
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ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:26619011 |
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NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar Annotator: match by term: Head and neck squamous cell carcinoma ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18186519 PMID:18368129 PMID:18398503 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19913317 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28492532 PMID:28854169 PMID:28891408 PMID:29595366 PMID:29925953 PMID:31775759 PMID:31779674 PMID:31891627 |
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NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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G |
Casp8 |
caspase 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23358896 |
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NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
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G |
Ccdc3 |
coiled-coil domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:26614431 |
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NCBI chr17:76,991,722...77,093,515
Ensembl chr17:76,995,043...77,093,308
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G |
Ccna1 |
cyclin A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23358896 PMID:29464035 |
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NCBI chr 2:144,456,689...144,503,570
Ensembl chr 2:144,458,153...144,467,912
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G |
Ccna2 |
cyclin A2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29464035 |
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NCBI chr 2:123,274,727...123,282,266
Ensembl chr 2:123,275,881...123,282,214
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G |
Ccnb1 |
cyclin B1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29464035 |
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NCBI chr 2:30,782,133...30,791,106
Ensembl chr 2:30,783,915...30,791,221
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G |
Ccnd1 |
cyclin D1 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26909611 PMID:29464035, PMID:9796972 |
RGD:13434911 |
NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
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G |
Ccne1 |
cyclin E1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29464035 |
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NCBI chr 1:94,485,830...94,495,112
Ensembl chr 1:94,485,832...94,494,980
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G |
Ccne2 |
cyclin E2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29464035 |
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NCBI chr 5:24,434,077...24,446,406
Ensembl chr 5:24,434,872...24,446,406
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G |
Cdk2 |
cyclin dependent kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29464035 |
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NCBI chr 7:3,124,953...3,132,533
Ensembl chr 7:3,124,954...3,132,457
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G |
Cdk4 |
cyclin-dependent kinase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29464035 |
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NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
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G |
Cdk6 |
cyclin-dependent kinase 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29464035 |
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NCBI chr 4:27,781,728...27,969,653
Ensembl chr 4:27,785,647...27,966,398
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
disease_progression |
ISO |
DNA:SNPs: :rs3731217, rs3088440 (human) ClinVar Annotator: match by term: Head and neck squamous cell carcinoma ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic |
ClinVar CTD |
PMID:7780957 PMID:8153634 PMID:8521414 PMID:8595405 PMID:8668202 PMID:8723678 PMID:8755727 PMID:9324288 PMID:9751050 PMID:9823374 PMID:9856841 PMID:10491434 PMID:11477665 PMID:11500805 PMID:11687599 PMID:12072543 PMID:15140233 PMID:15146471 PMID:16234564 PMID:16896043 PMID:16905682 PMID:17992122 PMID:18573309 PMID:21462282 PMID:21609436 PMID:24991542 PMID:25157968 PMID:25356972 PMID:25741868 PMID:26192916 PMID:26619011 PMID:26681309 PMID:26775776 PMID:26909611 PMID:28492532 PMID:28830827 PMID:29983899 PMID:31775759, PMID:21381012 |
RGD:8552291 |
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
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G |
Cntn4 |
contactin 4 |
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ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:28595731 |
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NCBI chr 4:137,785,166...138,787,527
Ensembl chr 4:138,269,142...138,787,525
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G |
Crebbp |
CREB binding protein |
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ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:29551561 |
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NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:9927029 PMID:10192393 PMID:23265383 PMID:25157968 PMID:26619011 PMID:26822237 |
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NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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G |
Dnmt3b |
DNA methyltransferase 3 beta |
susceptibility |
ISO |
DNA:SNP,haplotype:promoter:-149C>T,-579G>T(human) |
RGD |
PMID:18455294 |
RGD:9589078 |
NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
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G |
Dpyd |
dihydropyrimidine dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
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NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
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G |
Egfr |
epidermal growth factor receptor |
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ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:15118073 PMID:15118125 PMID:15788655 PMID:17177598 PMID:20415598 PMID:21531084 PMID:23358982 PMID:24712396 PMID:25157968 PMID:25969368 PMID:26101090 PMID:26619011 PMID:28492532 PMID:28874603 PMID:31775759 |
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NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
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G |
Ep300 |
E1A binding protein p300 |
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ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:26619011 |
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NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:22908275 PMID:26619011 |
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NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
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G |
Fancb |
FA complementation group B |
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ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:20332657 |
RGD:11344903 |
NCBI chr X:31,124,018...31,140,790
Ensembl chr X:31,124,018...31,140,711
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G |
Fancd2 |
FA complementation group D2 |
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ISO |
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RGD |
PMID:20935219 |
RGD:11344907 |
NCBI chr 4:145,489,869...145,551,479
Ensembl chr 4:145,489,869...145,551,479
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G |
Fbxw7 |
F-box and WD repeat domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:25741868 PMID:26619011 |
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NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
associated with human papillomavirus;DNA:missense mutation:cds: p.S249C (human) ClinVar Annotator: match by term: Head and neck squamous cell carcinoma |
ClinVar |
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11241532 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16841094 PMID:17384684 PMID:18642369 PMID:19381019 PMID:19749790 PMID:25157968 PMID:25606676 PMID:25741868 PMID:26619011 PMID:28492532, PMID:25056374 |
RGD:38500237 |
NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
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G |
Fhit |
fragile histidine triad diadenosine triphosphatase |
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ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:28580594 |
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NCBI chr15:15,697,292...16,862,873
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G |
Gnas |
GNAS complex locus |
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ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011 |
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NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
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G |
Grik2 |
glutamate ionotropic receptor kainate type subunit 2 |
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ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:26614431 |
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NCBI chr20:53,791,428...54,517,691
Ensembl chr20:53,789,760...54,517,709
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G |
Hoxa5 |
homeo box A5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22227861 |
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G |
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