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) |
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Artn |
artemin |
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ISO |
mRNA:increased expression:peripheral nerve: |
RGD |
PMID:19937367 |
RGD:8655552 |
NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025
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Bdnf |
brain-derived neurotrophic factor |
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ISO |
mRNA:increased expression:peripheral nerve: |
RGD |
PMID:19937367 |
RGD:8655552 |
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Cav1 |
caveolin 1 |
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ISO |
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RGD |
PMID:20881564 |
RGD:8661782 |
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
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ISO |
mRNA,protein:decreased expression:myelinated nerve: |
RGD |
PMID:20600642 |
RGD:8661792 |
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
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ISO |
DNA:snp:promoter:c.-1053C>T (human) |
RGD |
PMID:12540498 |
RGD:1358568 |
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
susceptibility |
ISO |
DNA:missense mutation:cds:p.D312N (rs1799793) (human) |
RGD |
PMID:20150366 |
RGD:5688735 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Fgfr1 |
Fibroblast growth factor receptor 1 |
disease_progression |
ISO |
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RGD |
PMID:15354013 |
RGD:11567268 |
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Gdnf |
glial cell derived neurotrophic factor |
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ISO |
mRNA:increased expression:peripheral nerve: |
RGD |
PMID:19937367 |
RGD:8655552 |
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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Igf1 |
insulin-like growth factor 1 |
susceptibility |
ISO |
protein:increased expression:serum: |
RGD |
PMID:21788435 |
RGD:8548833 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igfbp3 |
insulin-like growth factor binding protein 3 |
susceptibility |
ISO |
protein:increased expression:serum: |
RGD |
PMID:21788435 |
RGD:8548833 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Nf2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
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ISO |
protein:decreased expression:myelinated nerve: |
RGD |
PMID:20600642 |
RGD:8661792 |
NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
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Vegfa |
vascular endothelial growth factor A |
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ISO |
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RGD |
PMID:14660915 |
RGD:8547959 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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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, acth-secreting, somatic |
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 More...
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NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122
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Avpr1b |
arginine vasopressin receptor 1B |
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ISO |
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RGD |
PMID:23884782 |
RGD:14700670 |
NCBI chr13:43,046,531...43,059,046
Ensembl chr13:43,046,267...43,057,792
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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 chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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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 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666
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Hnf1a |
HNF1 homeobox A |
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ISO |
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RGD |
PMID:10489374 |
RGD:150540314 |
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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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 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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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 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122
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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 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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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 2:59,946,158...59,958,255
Ensembl chr 2:59,946,153...59,958,255
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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 RGD |
PMID:9111214 PMID:10383901 PMID:12034317 PMID:19092804 PMID:30188895 PMID:11677205 More...
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RGD:2317202 |
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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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 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837
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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 chr10:57,581,742...57,612,758
Ensembl chr10:57,582,128...57,612,748
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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:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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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 chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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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 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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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 chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215
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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 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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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 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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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 chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018
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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 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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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 chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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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:66,501,848...66,509,783
Ensembl chr X:66,501,820...66,509,925
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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 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Ins2 |
insulin 2 |
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ISO |
protein:increased secretion:serum |
RGD |
PMID:12917331 |
RGD:2317273 |
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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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 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
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Klf5 |
KLF transcription factor 5 |
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ISO |
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RGD |
PMID:14726538 |
RGD:1304288 |
NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
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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 4:178,185,418...178,218,484
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Men1 |
menin 1 |
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ISO |
DNA:deletion:exons |
RGD |
PMID:12917331 |
RGD:2317273 |
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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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 chr10:62,961,348...62,961,430
Ensembl chr10:62,961,348...62,961,430
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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 6:127,754,027...127,754,122
Ensembl chr 6:127,754,027...127,754,122
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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 8:109,264,555...109,264,637
Ensembl chr 8:109,264,555...109,264,637
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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 chr10:54,951,514...54,951,582
Ensembl chr10:54,951,505...54,951,584
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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:15,258,778...15,258,857
Ensembl chr X:15,258,768...15,258,859
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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 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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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 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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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 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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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 chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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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 chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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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 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333
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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 2:52,498,123...52,508,409
Ensembl chr 2:52,498,339...52,508,852
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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 chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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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 chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
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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 chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
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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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tp73 |
tumor protein p73 |
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ISO |
DNA:hypermethylation:promoter: (human) |
RGD |
PMID:29945573 |
RGD:151347590 |
NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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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 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
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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 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
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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 7:20,830,042...20,914,990
Ensembl chr 7:20,830,045...20,907,863
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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 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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Traf7 |
TNF receptor associated factor 7 |
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ISO |
DNA:missense mutations:multiple |
RGD |
PMID:29148537 |
RGD:151356962 |
NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203
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Alx4 |
ALX homeobox 4 |
severity |
ISO |
DNA:altered methylation:plasma: |
RGD |
PMID:20140221 |
RGD:153344541 |
NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
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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 chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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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 chr12:7,726,798...7,733,142
Ensembl chr12:7,726,798...7,733,142
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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 chr16:70,342,530...70,344,854
Ensembl chr16:70,342,530...70,344,836
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Septin9 |
septin 9 |
severity |
ISO |
DNA:altered methylation:plasma: |
RGD |
PMID:20140221 |
RGD:153344541 |
NCBI chr10:102,409,798...102,579,056
Ensembl chr10:102,409,711...102,579,055
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Smo |
smoothened, frizzled class receptor |
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ISO |
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RGD |
PMID:19427313 |
RGD:150340551 |
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
disease_progression |
ISO |
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RGD |
PMID:29043607 |
RGD:150429712 |
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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Ifitm1 |
interferon induced transmembrane protein 1 |
disease_progression |
ISO |
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RGD |
PMID:29043607 |
RGD:150429712 |
NCBI chr 1:196,067,163...196,069,169
Ensembl chr 1:196,067,963...196,069,169
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Ttr |
transthyretin |
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ISO |
protein:increased expression:lung (human) |
RGD |
PMID:26943652 |
RGD:151665207 |
NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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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 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837
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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:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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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 |
NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278
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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 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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|
G |
Cyp11b3 |
cytochrome P450, family 11, subfamily b, polypeptide 3 |
|
ISO |
mRNA:increased expression:adrenal gland (human) |
RGD |
PMID:12457455 |
RGD:4891170 |
NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
|
|
G |
Men1 |
menin 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenocortical adenoma |
ClinVar |
PMID:10647896 |
|
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
|
|
G |
Prkaca |
protein kinase cAMP-activated catalytic subunit alpha |
|
ISO |
associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human) |
RGD |
PMID:24855271 |
RGD:13515122 |
NCBI chr19:24,155,081...24,178,430
Ensembl chr19:24,155,090...24,178,430
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|
G |
Prkacb |
protein kinase cAMP-activated catalytic subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29669941 |
|
NCBI chr 2:235,636,878...235,726,928
Ensembl chr 2:235,636,885...235,726,198
|
|
|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859340 |
|
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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|
G |
Smo |
smoothened, frizzled class receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859340 |
|
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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|
|
G |
Gla |
galactosidase, alpha |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19925601 |
|
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
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|
G |
Naga |
alpha-N-acetylgalactosaminidase |
|
ISO |
Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W |
RGD |
PMID:8040340 |
RGD:1600558 |
NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
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|
|
G |
Ankib1 |
ankyrin repeat and IBR domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781
|
|
G |
Krit1 |
KRIT1, ankyrin repeat containing |
|
ISO |
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas |
ClinVar |
PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
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|
|
G |
Ogg1 |
8-oxoguanine DNA glycosylase |
no_association |
ISO |
associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human) associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human) |
RGD |
PMID:19265534 PMID:17932460 PMID:17932460 |
RGD:8657154, RGD:8657155, RGD:8657155 |
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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G |
Pten |
phosphatase and tensin homolog |
|
ISO |
protein:increased expression:kidney (human) |
RGD |
PMID:22737271 |
RGD:12802360 |
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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|
G |
Stat1 |
signal transducer and activator of transcription 1 |
|
ISO |
protein:increased serine phosphorylation:kidney |
RGD |
PMID:15994429 |
RGD:2298537 |
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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|
G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
protein:increased tyrosine phosphorylation:kidney |
RGD |
PMID:15994429 |
RGD:2298537 |
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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|
G |
Tsc2 |
TSC complex subunit 2 |
|
ISO |
associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney |
RGD |
PMID:19265534 |
RGD:8657154 |
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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|
|
G |
Ccl20 |
C-C motif chemokine ligand 20 |
|
ISO |
protein:decreased expression:skin |
RGD |
PMID:17545018 |
RGD:7483603 |
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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|
G |
Cd8a |
CD8 subunit alpha |
|
ISO |
mRNA:decreased expression:zone of skin (human) |
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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|
G |
Foxp3 |
forkhead box P3 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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|
G |
Ifna1 |
interferon, alpha 1 |
treatment |
ISO |
|
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
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|
G |
Il10 |
interleukin 10 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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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 chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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G |
Il2 |
interleukin 2 |
|
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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|
G |
Il21 |
interleukin 21 |
|
ISO |
protein:decreased expression:blood serum (human) |
RGD |
PMID:31414711 |
RGD:127285371 |
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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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 chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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|
G |
Il6 |
interleukin 6 |
|
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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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 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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|
G |
Mapk8 |
mitogen-activated protein kinase 8 |
treatment |
ISO |
mRNA:increased expression:zone of skin (human) |
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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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 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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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 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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|
G |
Pdcd1 |
programmed cell death 1 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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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 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
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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 chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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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 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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|
G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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|
G |
Tlr3 |
toll-like receptor 3 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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|
G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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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:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754
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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:27,091,780...27,116,092
Ensembl chr X:27,091,778...27,116,549
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|
G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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|
G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:increased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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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 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Ackr1 |
atypical chemokine receptor 1 |
|
IEP |
|
RGD |
PMID:24429330 |
RGD:9681736 |
NCBI chr13:85,782,396...85,784,015
Ensembl chr13:85,782,398...85,783,983
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G |
Angpt2 |
angiopoietin 2 |
|
IEP |
mRNA:increased expression:lung (rat) |
RGD |
PMID:18692629 |
RGD:2314184 |
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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G |
Arrb1 |
arrestin, beta 1 |
|
IEP |
mRNA, protein:altered expression:left ventricle (rat) |
RGD |
PMID:22015551 |
RGD:5509867 |
NCBI chr 1:153,837,964...153,912,111
Ensembl chr 1:153,838,078...153,904,061
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G |
Arrb2 |
arrestin, beta 2 |
|
IEP |
mRNA, protein:altered expression:left ventricle (rat) |
RGD |
PMID:22015551 |
RGD:5509867 |
NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850
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G |
Col1a1 |
collagen type I alpha 1 chain |
|
IEP |
in Long Evans rats;mRNA:increased expression:aorta |
RGD |
PMID:16428894 |
RGD:8552771 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Des |
desmin |
|
IEP |
|
RGD |
PMID:10591032 |
RGD:13525010 |
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
|
RGD |
PMID:10541235 |
RGD:8655590 |
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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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 chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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|
G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
IEP ISO |
|
RGD |
PMID:17398390 PMID:23924957 |
RGD:1642040, RGD:13204800 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Nos3 |
nitric oxide synthase 3 |
|
IEP |
protein:increased expression:vena cava |
RGD |
PMID:17344190 |
RGD:2292146 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Rbp4 |
retinol binding protein 4 |
exacerbates |
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:33556944 |
RGD:329845868 |
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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|
G |
Timp4 |
TIMP metallopeptidase inhibitor 4 |
|
IEP |
protein:decreased expression:ileal vein |
RGD |
PMID:17398390 |
RGD:1642040 |
NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
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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 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Acvrl1 |
activin A receptor like type 1 |
|
ISO |
|
RGD |
PMID:11062473 |
RGD:1300250 |
NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Arteriovenous malformation |
ClinVar |
PMID:17366577 PMID:25741868 PMID:26795593 |
|
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
|
|
G |
Eng |
endoglin |
susceptibility |
ISO |
associated with Telangiectasia, Hereditary Hemorrhagic; |
RGD |
PMID:8728706 PMID:24520391 |
RGD:11041184, RGD:11041564 |
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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|
G |
Ephb4 |
EPH receptor B4 |
|
ISO |
ClinVar Annotator: match by term: Arteriovenous malformation |
ClinVar |
PMID:25741868 PMID:28687708 PMID:30578106 PMID:30760892 |
|
NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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|
G |
Glmn |
glomulin, FKBP associated protein |
|
ISO |
glomuvenous malformations |
RGD |
PMID:11845407 |
RGD:1598992 |
NCBI chr14:2,187,144...2,231,295
Ensembl chr14:2,187,642...2,230,420
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|
G |
Map2 |
microtubule-associated protein 2 |
|
IEP |
protein:decreased expression:hippocampus |
RGD |
PMID:20873448 |
RGD:6483324 |
NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
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G |
Mir10a |
microRNA 10a |
|
ISO |
miRNA:decreased expression:blood plasma (human) |
RGD |
PMID:23051042 |
RGD:155582214 |
NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280
|
|
G |
Mir193a |
microRNA 193a |
|
ISO |
miRNA:decreased expression:blood plasma (human) |
RGD |
PMID:23051042 |
RGD:155582214 |
NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
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|
G |
Mir210 |
microRNA 210 |
|
ISO |
associated with hereditary hemorrhagic telangiectasia; miRNA:increased expression:blood plasma (human) |
RGD |
PMID:23051042 |
RGD:155582214 |
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
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|
G |
Mir214 |
microRNA 214 |
|
ISO |
miRNA:increased expression:blood plasma (human) |
RGD |
PMID:23051042 |
RGD:155582214 |
NCBI chr13:74,588,374...74,588,481
Ensembl chr13:74,588,372...74,588,481
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|
G |
Mir34a |
microRNA 34a |
|
ISO |
miRNA:increased expression:blood plasma (human) |
RGD |
PMID:23051042 |
RGD:155582214 |
NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103
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|
G |
Mir486 |
microRNA 486 |
|
ISO |
miRNA:increased expression:blood plasma (human) |
RGD |
PMID:23051042 |
RGD:155582214 |
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
|
RGD |
PMID:16720380 |
RGD:1582655 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
|
|
G |
Rasa1 |
RAS p21 protein activator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:14639529 PMID:15917201 |
RGD:1581296 |
NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854
|
|
G |
Tek |
TEK receptor tyrosine kinase |
susceptibility |
ISO |
DNA:missense mutation: :p.R849W |
RGD |
PMID:8980225 |
RGD:1578533 |
NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
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|
|
G |
Acvrl1 |
activin A receptor like type 1 |
|
ISS |
OMIM:108010 |
MouseDO |
|
|
NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
|
|
G |
Adgrv1 |
adhesion G protein-coupled receptor V1 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
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:19571295 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:22039425 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:31277584 PMID:31779674 PMID:31891627 PMID:34476331 More...
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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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 chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376
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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 chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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G |
Egfr |
epidermal growth factor receptor |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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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 RGD |
PMID:15879500 PMID:25741868 PMID:28492532 PMID:30120215 PMID:24876084 PMID:24520391 More...
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RGD:11041171, RGD:11041564 |
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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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 chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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G |
Gli2 |
GLI family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain |
ClinVar |
PMID:25741868 |
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NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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G |
Il17rd |
interleukin 17 receptor D |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901 |
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NCBI chr16:2,228,438...2,295,122
Ensembl chr16:2,228,287...2,292,556
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G |
Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD OMIM |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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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 chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO ISS |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain OMIM:108010 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 PMID:12460918 PMID:12720172 PMID:14982869 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17384584 PMID:17409930 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18456719 PMID:18628094 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19349489 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20652921 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20949621 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:23255105 PMID:23406027 PMID:24033266 PMID:24138715 PMID:24803665 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25741868 PMID:26372703 PMID:28492532 PMID:29298116 PMID:29948256 PMID:30443000 PMID:31891627 More...
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NCBI chr 4:178,185,418...178,218,484
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G |
Lemd3 |
LEM domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474
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G |
Map4k4 |
mitogen-activated protein kinase kinase kinase kinase 4 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 9:42,200,708...42,326,708
Ensembl chr 9:42,200,278...42,326,698
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G |
Notch4 |
notch receptor 4 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar RGD |
PMID:25741868 PMID:27231971 PMID:19546852 |
RGD:6480671 |
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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G |
Pdcd10 |
programmed cell death 10 |
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ISO |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain |
ClinVar |
PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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G |
Pitpnm3 |
PITPNM family member 3 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584
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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 |
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NCBI chr 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068
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G |
Sars1 |
seryl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277
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G |
Scube2 |
signal peptide, CUB domain and EGF like domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 1:163,831,876...163,899,925
Ensembl chr 1:163,832,015...163,899,393
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G |
Syn3 |
synapsin III |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 7:16,216,055...17,808,790
Ensembl chr 7:17,376,372...17,808,790
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G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839
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G |
Vegfa |
vascular endothelial growth factor A |
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ISO |
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RGD |
PMID:16388189 |
RGD:1580567 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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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 2:23,713,018...23,757,576
Ensembl chr 2:23,713,766...23,756,990
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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:7661930 PMID:8990002 PMID:9950360 PMID:11317365 PMID:15108288 PMID:17963004 PMID:20223039 PMID:20685668 PMID:25741868 PMID:28492532 PMID:28944238 PMID:31062380 More...
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NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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G |
Galnt12 |
polypeptide N-acetylgalactosaminyltransferase 12 |
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ISO |
ClinVar Annotator: match by term: Adenomatous polyposis coli, attenuated |
ClinVar |
PMID:19617566 PMID:20551049 PMID:22461326 PMID:24038392 PMID:24357849 PMID:25741868 PMID:26467025 PMID:26845104 PMID:27153395 PMID:28492532 PMID:28944238 PMID:29095867 PMID:29596542 PMID:29749045 PMID:31548401 PMID:33193653 More...
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NCBI chr 5:61,384,575...61,413,346
Ensembl chr 5:61,384,571...61,413,354
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G |
Egfr |
epidermal growth factor receptor |
|
ISO |
ClinVar Annotator: match by term: Cowden syndrome 1 |
ClinVar |
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NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Klln |
killin, p53-regulated DNA replication inhibitor |
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ISO |
ClinVar Annotator: match by term: Cowden syndrome 1 |
ClinVar |
PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 PMID:21417916 PMID:21532617 PMID:24033266 PMID:25669429 PMID:25741868 PMID:26467025 PMID:27535533 PMID:27878467 PMID:27884173 PMID:28492532 More...
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Cowden syndrome 1 |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 PMID:16906227 PMID:16930767 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21430269 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22729222 PMID:23946963 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:34496175 More...
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Pten |
phosphatase and tensin homolog |
|
ISS ISO |
OMIM:158350 ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 |
MouseDO ClinVar OMIM |
PMID:1097835 PMID:1336932 PMID:1945792 PMID:2333580 PMID:2338203 PMID:7728760 PMID:8673088 PMID:8980400 PMID:9140396 PMID:9241266 PMID:9256433 PMID:9259288 PMID:9288766 PMID:9326929 PMID:9356475 PMID:9399897 PMID:9425889 PMID:9467011 PMID:9536098 PMID:9598803 PMID:9600246 PMID:9619835 PMID:9740666 PMID:9788441 PMID:9794233 PMID:9811831 PMID:9832031 PMID:9832032 PMID:9856571 PMID:9915974 PMID:10051603 PMID:10076877 PMID:10232405 PMID:10234502 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10554022 PMID:10555148 PMID:10606430 PMID:10698713 PMID:10749983 PMID:10772390 PMID:10772829 PMID:10777358 PMID:10848731 PMID:10866302 PMID:10920277 PMID:10923032 PMID:10978354 PMID:11052475 PMID:11071384 PMID:11156408 PMID:11234884 PMID:11238682 PMID:11274365 PMID:11332402 PMID:11476841 PMID:11504908 PMID:11685670 PMID:11875759 PMID:11918710 PMID:11948419 PMID:12075083 PMID:12085208 PMID:12208743 PMID:12372056 PMID:12414663 PMID:12471211 PMID:12614768 PMID:12808147 PMID:12833416 PMID:12844284 PMID:12938083 PMID:14518070 PMID:14566704 PMID:14623110 PMID:14675182 PMID:15016963 PMID:15120218 PMID:15211648 PMID:15254419 PMID:15372512 PMID:15492994 PMID:15647370 PMID:16007494 PMID:16014636 PMID:16021145 PMID:16199547 PMID:16619501 PMID:16704655 PMID:16752378 PMID:16773562 PMID:16952599 PMID:17167516 PMID:17286265 PMID:17324556 PMID:17392703 PMID:17427195 PMID:17526800 PMID:17526801 PMID:17576681 PMID:17847000 PMID:17873119 PMID:17873882 PMID:17898811 PMID:17928923 PMID:17942903 PMID:17954274 PMID:18558293 PMID:18725974 PMID:18767981 PMID:18986487 PMID:19265751 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19457929 PMID:19458356 PMID:19829307 PMID:19903786 PMID:19968660 PMID:20018398 PMID:20085938 PMID:20194734 PMID:20223021 PMID:20300775 PMID:20301661 PMID:20453058 PMID:20533527 PMID:20600018 PMID:20619739 PMID:20685300 PMID:20712882 PMID:20881644 PMID:20926450 PMID:20962022 PMID:21103832 PMID:21194675 PMID:21333374 PMID:21343951 PMID:21417916 PMID:21532617 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:21869887 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22261759 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22371648 PMID:22381246 PMID:22469695 PMID:22479427 PMID:22491738 PMID:22503188 PMID:22558107 PMID:22595938 PMID:22628360 PMID:22703879 PMID:22962422 PMID:23066114 PMID:23160955 PMID:23161105 PMID:23315997 PMID:23335809 PMID:23349303 PMID:23361946 PMID:23399955 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23555315 PMID:23613428 PMID:23633456 PMID:23695273 PMID:23757202 PMID:23764071 PMID:23825907 PMID:23934111 PMID:23934601 PMID:24033266 PMID:24052722 PMID:24055113 PMID:24099866 PMID:24136893 PMID:24292679 PMID:24345843 PMID:24375884 PMID:24379037 PMID:24468202 PMID:24498881 PMID:24721394 PMID:24728327 PMID:24744697 PMID:24763289 PMID:24766807 PMID:24778394 PMID:25132236 PMID:25157968 PMID:25186627 PMID:25288137 PMID:25326635 PMID:25525159 PMID:25527629 PMID:25549896 PMID:25647146 PMID:25669429 PMID:25722288 PMID:25741868 PMID:25756585 PMID:25875300 PMID:25910213 PMID:25980754 PMID:26099045 PMID:26124082 PMID:26229595 PMID:26246517 PMID:26418532 PMID:26443266 PMID:26467025 PMID:26468640 PMID:26517354 PMID:26580448 PMID:26619011 PMID:26633542 PMID:26681312 PMID:26773036 PMID:26787237 PMID:26795104 PMID:26798346 PMID:26800850 PMID:26845104 PMID:26898890 PMID:26919320 PMID:27426521 PMID:27428751 PMID:27477328 PMID:27489861 PMID:27514801 PMID:27531073 PMID:27535533 PMID:27878467 PMID:27884173 PMID:27959697 PMID:27978560 PMID:28008555 PMID:28013114 PMID:28086757 PMID:28135145 PMID:28235761 PMID:28263302 PMID:28286253 PMID:28418444 PMID:28475857 PMID:28492532 PMID:28497778 PMID:28523199 PMID:28526761 PMID:28655553 PMID:28677221 PMID:28873162 PMID:29273943 PMID:29296277 PMID:29359449 PMID:29371908 PMID:29594054 PMID:29608813 PMID:29663862 PMID:29706350 PMID:29706633 PMID:29706646 PMID:29758562 PMID:29785012 PMID:29806868 PMID:29874181 PMID:29931205 PMID:29970488 PMID:30181857 PMID:30287823 PMID:30311369 PMID:30311380 PMID:30528446 PMID:30614812 PMID:30659124 PMID:31006514 PMID:31079897 PMID:31144778 PMID:31159747 PMID:31199785 PMID:31209962 PMID:31336731 PMID:31594918 PMID:31664961 PMID:32162695 PMID:32185379 PMID:32196895 PMID:32238909 PMID:32295079 PMID:32350270 PMID:32442409 PMID:32461654 PMID:32664367 PMID:32832836 PMID:32885271 PMID:33077954 PMID:33083010 PMID:33088792 PMID:33372952 PMID:33471991 PMID:33600059 PMID:33723755 PMID:33876391 PMID:33887726 PMID:34268892 PMID:34308366 PMID:34386506 PMID:34625746 PMID:35227301 PMID:35241692 PMID:36988593 More...
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NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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G |
Sdhb |
succinate dehydrogenase complex iron sulfur subunit B |
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ISO |
ClinVar Annotator: match by term: Cowden syndrome 1 |
ClinVar |
PMID:19802898 PMID:20923864 PMID:21979946 PMID:23072324 PMID:23512077 PMID:25694510 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30152102 More...
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NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
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G |
Ptch1 |
patched 1 |
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ISO |
DNA:missense mutations, nonsense mutations |
RGD |
PMID:25395299 |
RGD:150523793 |
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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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 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Pten |
phosphatase and tensin homolog |
disease_progression |
ISO |
associated with schistosomiasis;protein:decreased expression:urothelium (human) |
RGD |
PMID:26916953 |
RGD:127285612 |
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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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 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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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 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
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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 chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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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 4:58,664,932...58,772,328
Ensembl chr 4:58,664,957...58,825,328
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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 chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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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 chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
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G |
Birc2 |
baculoviral IAP repeat-containing 2 |
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ISO |
mRNA:increased expression:perianal skin (human) |
RGD |
PMID:20346172 |
RGD:152998971 |
NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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G |
Birc3 |
baculoviral IAP repeat-containing 3 |
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ISO |
mRNA:increased expression:perianal skin (human) |
RGD |
PMID:20346172 |
RGD:152998971 |
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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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 7:116,634,817...116,679,459
Ensembl chr 7:116,634,814...116,679,581
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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 PMID:25741868 |
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NCBI chr 1:3,119,915...3,418,536
Ensembl chr 1:3,121,332...3,439,870
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G |
Ccn1 |
cellular communication network factor 1 |
disease_progression |
ISO |
mRNA:increased expression:skin (human) |
RGD |
PMID:33587560 |
RGD:329845523 |
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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G |
Npc1 |
NPC intracellular cholesterol transporter 1 |
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ISO |
ClinVar Annotator: match by term: Capillary hemangioma |
ClinVar |
PMID:25741868 |
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NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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G |
Ccnh |
cyclin H |
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ISO |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome |
ClinVar |
PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18446851 PMID:22200646 PMID:23164092 PMID:23650393 PMID:23687085 PMID:24038909 PMID:24139535 PMID:25741868 PMID:26499346 PMID:27081547 PMID:27535533 PMID:28295764 PMID:28492532 PMID:28655553 PMID:29024832 PMID:29120072 PMID:29891884 PMID:30120215 More...
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NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819
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G |
Ephb4 |
EPH receptor B4 |
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ISO |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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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 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18446851 PMID:21626678 PMID:22200646 PMID:23164092 PMID:23650393 PMID:23687085 PMID:23801933 PMID:24038909 PMID:24139535 PMID:25640679 PMID:25741868 PMID:26499346 PMID:26774077 PMID:27081547 PMID:27535533 PMID:28295764 PMID:28492532 PMID:28655553 PMID:29024832 PMID:29110021 PMID:29120072 PMID:29171923 PMID:29891884 PMID:30120215 PMID:14639529 More...
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RGD:734495 |
NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854
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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 4:116,055,563...116,083,563
Ensembl chr 4:116,056,057...116,080,543
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G |
Ccnh |
cyclin H |
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ISO |
ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 |
ClinVar |
PMID:14639529 PMID:16199547 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 PMID:25040287 PMID:25741868 PMID:26499346 PMID:27081547 PMID:27535533 PMID:28492532 PMID:28655553 PMID:29891884 More...
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NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 |
ClinVar |
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 PMID:12720172 PMID:15093544 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:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:21079152 PMID:21228335 PMID:21975775 PMID:22025163 PMID:22407852 PMID:22499344 PMID:22683711 PMID:23014527 PMID:23096712 PMID:23255105 PMID:23406027 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25741868 PMID:28492532 PMID:29298116 PMID:30443000 PMID:31891627 More...
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NCBI chr 4:178,185,418...178,218,484
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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 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 |
OMIM ClinVar |
PMID:14639529 PMID:16199547 PMID:18363760 PMID:18446851 PMID:22200646 PMID:23164092 PMID:23801933 PMID:24038909 PMID:25040287 PMID:25741868 PMID:26499346 PMID:27081547 PMID:27535533 PMID:28492532 PMID:28655553 PMID:29891884 More...
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NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854
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G |
Ephb4 |
EPH receptor B4 |
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ISO |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 |
OMIM ClinVar |
PMID:16199547 PMID:21348050 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:28730721 PMID:29444212 PMID:29905864 PMID:30578106 PMID:30760892 PMID:30819650 More...
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NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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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:25741868 PMID:28492532 PMID:28687708 |
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NCBI chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877
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G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
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ISO |
ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA |
ClinVar |
PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25525159 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26490314 PMID:26689913 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29177515 PMID:29625052 PMID:29872718 PMID:29978154 PMID:29978187 PMID:30068732 PMID:30877234 PMID:31368675 PMID:31589614 PMID:31827275 PMID:32581362 PMID:33077847 PMID:33372952 PMID:33674644 PMID:33960148 PMID:35059314 More...
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NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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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:28873162 PMID:29386252 More...
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NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
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G |
Sdhc |
succinate dehydrogenase complex subunit C |
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ISO |
ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA |
ClinVar |
PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 PMID:19351833 PMID:21173220 PMID:21822798 PMID:24402737 PMID:26173966 PMID:28492532 More...
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NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
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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 chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
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G |
Krit1 |
KRIT1, ankyrin repeat containing |
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ISO |
ClinVar Annotator: match by term: Cavernous hemangioma |
ClinVar |
PMID:10508515 PMID:10545614 PMID:11222804 PMID:12404106 PMID:23595507 PMID:24466005 PMID:24689081 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
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G |
Pdcd10 |
programmed cell death 10 |
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ISO |
ClinVar Annotator: match by term: Cavernous hemangioma |
ClinVar |
PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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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 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819
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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 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854
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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:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 PMID:22799452 PMID:23384228 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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G |
Akap9 |
A-kinase anchoring protein 9 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
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NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
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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 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781
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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 chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
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G |
Cyp51 |
cytochrome P450, family 51 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
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NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
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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 chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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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 chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Krit1 |
KRIT1, ankyrin repeat containing |
susceptibility |
ISO ISS |
ClinVar Annotator: match by term: Cerebral cavernous malformation CTD Direct Evidence: marker/mechanism |
MouseDO ClinVar CTD RGD |
PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11941540 PMID:11959162 PMID:12404106 PMID:12810002 PMID:12854741 PMID:14755725 PMID:15079030 PMID:16199547 PMID:16321204 PMID:16571644 PMID:17277691 PMID:17440989 PMID:17576681 PMID:18300272 PMID:18380023 PMID:18383588 PMID:19088123 PMID:19099113 PMID:19454328 PMID:19763152 PMID:20301470 PMID:20306072 PMID:20307669 PMID:20419355 PMID:21029238 PMID:22406018 PMID:23584803 PMID:23595507 PMID:24401931 PMID:24466005 PMID:24689081 PMID:24721395 PMID:25525159 PMID:25525273 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26682556 PMID:27766163 PMID:27792856 PMID:28000143 PMID:28492532 PMID:28645800 PMID:28745674 PMID:28867399 PMID:29593473 PMID:30161288 PMID:31124307 PMID:31254430 PMID:33891857 PMID:33911302 PMID:34634677 PMID:34964173 PMID:14755725 PMID:15079030 More...
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RGD:1358458, RGD:1598379 |
NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
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G |
Lrrd1 |
leucine-rich repeats and death domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
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NCBI chr 4:30,263,147...30,293,119
Ensembl chr 4:30,264,862...30,293,173
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G |
Notch3 |
notch receptor 3 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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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:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 PMID:23801932 PMID:25741868 PMID:26896283 PMID:28492532 More...
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NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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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 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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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 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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G |
Serpini1 |
serpin family I member 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
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NCBI chr 2:160,346,403...160,433,135
Ensembl chr 2:160,346,758...160,433,135
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G |
Krit1 |
KRIT1, ankyrin repeat containing |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 1 |
OMIM ClinVar |
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11222804 PMID:11914398 PMID:11941540 PMID:12404106 PMID:12854741 PMID:14755725 PMID:16571644 PMID:17562932 PMID:19088123 PMID:19454328 PMID:20301470 PMID:24401931 PMID:24689081 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29593473 More...
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NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
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G |
Pdcd10 |
programmed cell death 10 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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G |
Ccm2 |
CCM2 scaffold protein |
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ISO ISS |
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 OMIM:603284 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 PMID:16199547 PMID:17160895 PMID:17277691 PMID:17576681 PMID:18060436 PMID:18300272 PMID:19088123 PMID:19088124 PMID:19475721 PMID:20419355 PMID:23595507 PMID:24466005 PMID:24689081 PMID:25525273 PMID:25741868 PMID:26467025 PMID:27153162 PMID:27561926 PMID:27792856 PMID:28492532 PMID:28655553 PMID:30161288 PMID:31937560 PMID:32860008 PMID:35307828 More...
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NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
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G |
Nacad |
NAC alpha domain containing |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 |
ClinVar |
PMID:17160895 PMID:28492532 |
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NCBI chr14:81,465,299...81,473,866
Ensembl chr14:81,465,299...81,473,781
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G |
Pdcd10 |
programmed cell death 10 |
onset exacerbates |
ISO ISS |
DNA:deletion:CDS:c.506delA (human) DNA:mutations:multiple (human) DNA:SNPs:promoter: (rs9853967, rs11714980) (human) DNA:nonsense mutation, frameshift mutations:CDS:multiple (human) DNA:mutations:SNPs, duplications, deletions:multiple (human) DNA:deletions, nonsense mutations:multiple (human) OMIM:603285 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3 |
OMIM MouseDO CTD ClinVar RGD |
PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:17576681 PMID:18035376 PMID:18060436 PMID:18300272 PMID:23485406 PMID:23595507 PMID:23801932 PMID:24466005 PMID:24689081 PMID:25122144 PMID:25354366 PMID:25741868 PMID:26246098 PMID:26896283 PMID:28492532 PMID:30161288 PMID:34597987 PMID:17041941 PMID:25122144 PMID:27737651 PMID:16284570 PMID:25354366 PMID:15543491 More...
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RGD:401827173, RGD:401827115, RGD:401827114, RGD:401827108, RGD:401827103, RGD:401827102, RGD:329961304 |
NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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G |
Serpini1 |
serpin family I member 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 |
ClinVar |
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NCBI chr 2:160,346,403...160,433,135
Ensembl chr 2:160,346,758...160,433,135
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 4 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Gna14 |
G protein subunit alpha 14 |
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ISO |
ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome |
ClinVar |
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NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423
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G |
Adar |
adenosine deaminase, RNA-specific |
disease_progression |
ISO |
protein:increased expression:cervix squamous epithelium (human) |
RGD |
PMID:28109322 |
RGD:125097518 |
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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G |
Bax |
BCL2 associated X, apoptosis regulator |
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ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:17694953 |
RGD:1643352 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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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 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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G |
Brip1 |
BRCA1 interacting helicase 1 |
severity |
ISO |
mRNA, protein:increased expression:uterine cervix, nucleus (human) |
RGD |
PMID:24708616 |
RGD:11252104 |
NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
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G |
Ccl22 |
C-C motif chemokine ligand 22 |
severity |
ISO |
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RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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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 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056
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G |
Cd82 |
Cd82 molecule |
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ISO |
protein:decreased expression:uterine cervix |
RGD |
PMID:15642213 |
RGD:2289399 |
NCBI chr 3:79,387,361...79,431,847
Ensembl chr 3:79,385,887...79,431,809
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G |
Csf1r |
colony stimulating factor 1 receptor |
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ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:18565574 |
RGD:2299119 |
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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G |
Fgf7 |
fibroblast growth factor 7 |
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ISO |
cervical squamous cell carcinoma |
RGD |
PMID:17306351 |
RGD:2289084 |
NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
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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 chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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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 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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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 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930
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G |
Foxp3 |
forkhead box P3 |
severity |
ISO |
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RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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G |
Mir21 |
microRNA 21 |
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ISO |
RNA:increased expression:cervical cell |
RGD |
PMID:26010154 |
RGD:41404529 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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G |
Mir31 |
microRNA 31 |
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ISO |
RNA:increased expression:blood serum (human) |
RGD |
PMID:21658006 |
RGD:152998938 |
NCBI chr 5:103,599,038...103,599,143
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G |
Pdpn |
podoplanin |
disease_progression |
ISO |
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RGD |
PMID:16528371 |
RGD:2292237 |
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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G |
Smad3 |
SMAD family member 3 |
severity |
ISO |
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RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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G |
Timp2 |
TIMP metallopeptidase inhibitor 2 |
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ISO |
protein:decreased expression:uterine cervix |
RGD |
PMID:16619570 |
RGD:2290402 |
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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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 7:130,527,313...130,542,567
Ensembl chr 7:130,527,316...130,543,633
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G |
Tnfrsf4 |
TNF receptor superfamily member 4 |
severity |
ISO |
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RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
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G |
Tnfsf4 |
TNF superfamily member 4 |
severity |
ISO |
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RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
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G |
Tp53 |
tumor protein p53 |
disease_progression |
ISO |
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RGD |
PMID:17969407 |
RGD:2298526 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Tymp |
thymidine phosphorylase |
disease_progression |
ISO |
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RGD |
PMID:16803522 |
RGD:2293719 |
NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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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 chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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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 chr10:101,256,484...101,258,716
Ensembl chr10:101,256,480...101,258,709
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G |
Myl3 |
myosin light chain 3 |
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ISO |
ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type |
ClinVar |
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NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816
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G |
Pth1r |
parathyroid hormone 1 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type |
OMIM CTD ClinVar |
PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 PMID:10523019 PMID:17164305 PMID:17576681 PMID:18559376 PMID:21404329 PMID:23771181 PMID:25741868 PMID:28492532 PMID:31986066 More...
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NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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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 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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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 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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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 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
Smo |
smoothened, frizzled class receptor |
treatment |
ISO |
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RGD |
PMID:26091072 |
RGD:12910968 |
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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G |
Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Choroid plexus papilloma | ClinVar Annotator: match by term: Papilloma of choroid plexus |
CTD OMIM ClinVar |
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7732013 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8550239 PMID:8633021 PMID:8718514 PMID:8825920 PMID:9047394 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9607760 PMID:9662334 PMID:9667734 PMID:9891044 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10589545 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10922393 PMID:11101847 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11479205 PMID:11782540 PMID:11793474 PMID:12007217 PMID:12085209 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14743206 PMID:15004724 PMID:15037740 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16199549 PMID:16258005 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16551709 PMID:16682957 PMID:16818505 PMID:16861262 PMID:16964264 PMID:16969106 PMID:17015838 PMID:17311302 PMID:17535973 PMID:17540308 PMID:17567834 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:18307025 PMID:18391940 PMID:18511570 PMID:18685109 PMID:19101993 PMID:19127115 PMID:19454241 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19711436 PMID:19714490 PMID:19881536 PMID:20028212 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20436704 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21665182 PMID:21672450 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22233476 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22923379 PMID:23031740 PMID:23161690 PMID:23246812 PMID:23263379 PMID:23484829 PMID:23538418 PMID:23624782 PMID:23630318 PMID:23792586 PMID:23887774 PMID:24033266 PMID:24122735 PMID:24381225 PMID:24382691 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24641375 PMID:24651012 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24810334 PMID:24835218 PMID:25157968 PMID:25516983 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25787918 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26718964 PMID:26786923 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27153395 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27516001 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28873162 PMID:29070607 PMID:29478780 PMID:29489754 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30327374 PMID:30816478 PMID:31105275 PMID:31742824 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32658383 PMID:33372952 PMID:34299313 PMID:36329109 PMID:36988593 More...
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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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: CLAPO 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 |
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:20593314 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23946963 PMID:24033266 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29988677 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 More...
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Gna11 |
G protein subunit alpha 11 |
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ISO |
ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi |
ClinVar |
PMID:25741868 PMID:27476652 |
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NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CLOVE SYNDROME | ClinVar Annotator: match by term: CLOVES syndrome | ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES | ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi DNA: missense mutations: exon :p.H1047R, p.H1047L |
OMIM CTD ClinVar RGD |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 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:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 PMID:22729222 More...
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RGD:13207409 |
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: CLOVE SYNDROME |
ClinVar |
PMID:25741868 PMID:34040190 |
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NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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G |
Axin2 |
axin 2 |
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ISO |
protein:increased expression:: |
RGD |
PMID:11809809 |
RGD:151356508 |
NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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G |
Cacna1d |
calcium voltage-gated channel subunit alpha1 D |
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ISO |
protein:increased expression:colon (human) |
RGD |
PMID:29079724 |
RGD:152177516 |
NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215
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G |
Ccnd1 |
cyclin D1 |
severity |
ISO |
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RGD |
PMID:11375949 |
RGD:151665121 |
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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G |
Ccnd2 |
cyclin D2 |
severity |
ISO |
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RGD |
PMID:11375949 |
RGD:151665121 |
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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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 1:201,076,804...201,125,517
Ensembl chr 1:201,076,860...201,125,516
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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 chr10:80,908,300...80,951,097
Ensembl chr10:80,908,076...80,951,129
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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 chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
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G |
Rbp4 |
retinol binding protein 4 |
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ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:25712946 |
RGD:329849123 |
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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G |
Tet2 |
tet methylcytosine dioxygenase 2 |
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ISO |
mRNA:decreased expression:colon (human) |
RGD |
PMID:29875879 |
RGD:150429665 |
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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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:11823972 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:25085752 PMID:25178641 PMID:25203624 PMID:25318351 PMID:25356985 PMID:25479140 PMID:25559809 PMID:25637381 PMID:25741868 PMID:25778705 PMID:25980754 PMID:26000489 PMID:26332594 PMID:26416840 PMID:26467025 PMID:26580448 PMID:27153395 PMID:27535533 PMID:27600092 PMID:28259476 PMID:28301460 PMID:28492532 PMID:28503720 PMID:28873162 PMID:28944238 PMID:29212164 PMID:29684080 PMID:30122538 PMID:30256826 PMID:31159747 PMID:33503190 PMID:34250417 PMID:34301788 PMID:35128723 More...
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NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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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 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606
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G |
Cyp24a1 |
cytochrome P450, family 24, subfamily a, polypeptide 1 |
severity treatment |
ISO |
DNA:SNPs:intron, CDS: (rs927650), (rs35051736) (human) DNA:SNP:CDS: (rs2296241) (human) |
RGD |
PMID:26241700 PMID:27978548 |
RGD:11521055, RGD:152025254 |
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
disease_progression |
ISO |
protein:increased expression:large intestine |
RGD |
PMID:30214616 |
RGD:126779593 |
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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G |
F5 |
coagulation factor V |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:30971492 |
RGD:40907058 |
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
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G |
Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
|
RGD |
PMID:8264230 |
RGD:13210753 |
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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|
G |
Gpx2 |
glutathione peroxidase 2 |
|
ISO |
mRNA:increased expression:colorectum (human) |
RGD |
PMID:30469315 |
RGD:151665806 |
NCBI chr 6:95,493,589...95,496,877
Ensembl chr 6:95,493,589...95,496,877
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|
G |
Gpx3 |
glutathione peroxidase 3 |
|
ISO |
mRNA:decreased expression:colorectum (human) |
RGD |
PMID:30469315 |
RGD:151665806 |
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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|
G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
DNA:deletion:cds (human) |
RGD |
PMID:20375710 |
RGD:7495820 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstp1 |
glutathione S-transferase pi 1 |
|
ISO |
DNA:SNP: :p.A114V (human) |
RGD |
PMID:20375710 |
RGD:7495820 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Jun |
Jun proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
|
RGD |
PMID:8264230 |
RGD:13210753 |
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
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G |
Map2k4 |
mitogen activated protein kinase kinase 4 |
|
ISO |
protein:decreased expression:colorectum (human) |
RGD |
PMID:28423721 |
RGD:150429743 |
NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993
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G |
Mapk8 |
mitogen-activated protein kinase 8 |
|
ISO |
|
RGD |
PMID:21122381 PMID:23082052 |
RGD:13217408, RGD:13217413 |
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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G |
Mir193b |
microRNA 193b |
disease_progression |
ISO |
RNA:decreased expression:blood plasma (human) |
RGD |
PMID:29226653 |
RGD:153344556 |
NCBI chr10:1,317,742...1,317,824
Ensembl chr10:1,317,742...1,317,824
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G |
Mir224 |
microRNA 224 |
|
ISO |
mRNA:increased expression:colorectal mucosa: |
RGD |
PMID:25919696 |
RGD:14398749 |
NCBI chr X:150,065,088...150,065,169
Ensembl chr X:150,065,088...150,065,169
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G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
ameliorates |
ISO |
|
RGD |
PMID:30063920 |
RGD:150519915 |
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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G |
Ptch1 |
patched 1 |
|
ISO |
|
RGD |
PMID:24612059 |
RGD:150523840 |
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Ptgis |
prostaglandin I2 synthase |
susceptibility |
ISO |
DNA:repeats:promoter: |
RGD |
PMID:16537708 |
RGD:151347835 |
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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G |
Raf1 |
Raf-1 proto-oncogene, serine/threonine kinase |
|
ISO |
|
RGD |
PMID:21122381 |
RGD:13217408 |
NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
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G |
Selenoh |
selenoprotein H |
|
ISO |
mRNA:increased expression:colorectum (human) |
RGD |
PMID:30469315 |
RGD:151665806 |
NCBI chr 3:69,751,850...69,753,417
Ensembl chr 3:69,752,757...69,753,417
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G |
Selenop |
selenoprotein P |
|
ISO |
mRNA:decreased expression:colorectum (human) |
RGD |
PMID:30469315 |
RGD:151665806 |
NCBI chr 2:52,498,123...52,508,409
Ensembl chr 2:52,498,339...52,508,852
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G |
Selenos |
selenoprotein S |
|
ISO |
mRNA:decreased expression:colorectum (human) |
RGD |
PMID:30469315 |
RGD:151665806 |
NCBI chr 1:119,659,779...119,669,546
Ensembl chr 1:119,659,751...119,669,833
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G |
Sephs2 |
selenophosphate synthetase 2 |
|
ISO |
mRNA:decreased expression:colorectum (human) |
RGD |
PMID:30469315 |
RGD:151665806 |
NCBI chr 1:181,893,146...181,895,464
Ensembl chr 1:181,892,599...181,895,497
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G |
Smad4 |
SMAD family member 4 |
|
ISO |
mRNA:increased expression:mucosa |
RGD |
PMID:11480790 |
RGD:21066339 |
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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G |
Smarcc1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 |
ameliorates |
ISO |
protein:increased expression:colorectal mucosa (human) |
RGD |
PMID:19156145 |
RGD:151347861 |
NCBI chr 8:110,111,097...110,214,734
Ensembl chr 8:110,111,122...110,214,720
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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 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Ttr |
transthyretin |
|
ISO |
protein:decreased expression:blood serum (human) protein:decreased expression:colorectum (human) |
RGD |
PMID:21136704 PMID:33739034 |
RGD:151664608, RGD:151660505 |
NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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G |
Txnrd3 |
thioredoxin reductase 3 |
|
ISO |
mRNA:increased expression:colorectum (human) |
RGD |
PMID:30469315 |
RGD:151665806 |
NCBI chr 4:122,072,548...122,112,493
Ensembl chr 4:122,072,548...122,112,491
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G |
Adam3a |
ADAM metallopeptidase domain 3A |
|
ISO |
DNA, mRNA:amplification, increase expression |
RGD |
PMID:25491297 |
RGD:13831354 |
NCBI chr16:67,299,949...67,349,970
Ensembl chr16:67,299,949...67,349,968
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G |
Pcsk7 |
proprotein convertase subtilisin/kexin type 7 |
|
ISO |
ClinVar Annotator: match by term: Corpus callosum lipoma |
ClinVar |
PMID:25741868 |
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NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705
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G |
Aldoa |
aldolase, fructose-bisphosphate A |
|
ISO |
protein:increased expression:pancreas |
RGD |
PMID:19077459 |
RGD:2325696 |
NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
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G |
Aldoart2 |
aldolase 1 A retrogene 2 |
|
ISO |
protein:increased expression:pancreas |
RGD |
PMID:19077459 |
RGD:2325696 |
NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709
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G |
Foxo3 |
forkhead box O3 |
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ISS |
OMIM:166950 |
MouseDO |
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NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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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:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960
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G |
Tmc8 |
transmembrane channel-like 8 |
|
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis |
ClinVar |
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
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G |
Tnrc6c |
trinucleotide repeat containing adaptor 6C |
|
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr10:102,908,958...102,979,543
Ensembl chr10:102,868,828...102,978,194
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G |
Tmc6 |
transmembrane channel like 6 |
|
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 |
OMIM ClinVar |
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:25741868 PMID:28492532 More...
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NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960
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G |
Tmc8 |
transmembrane channel-like 8 |
|
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 |
ClinVar |
PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 PMID:28492532 More...
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NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
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G |
Tmc6 |
transmembrane channel like 6 |
|
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960
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G |
Tmc8 |
transmembrane channel-like 8 |
|
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 |
OMIM ClinVar |
PMID:9536098 PMID:10084299 PMID:12426567 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28646613 More...
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NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
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G |
Cib1 |
calcium and integrin binding 1 |
|
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3 |
OMIM ClinVar |
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28492532 PMID:28646613 PMID:30068544 More...
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NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423
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G |
Rhoh |
ras homolog family member H |
susceptibility |
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 |
OMIM ClinVar |
PMID:22850876 PMID:25741868 PMID:28492532 |
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NCBI chr14:42,341,135...42,371,971
Ensembl chr14:42,337,751...42,386,369
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G |
Il7 |
interleukin 7 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 |
OMIM ClinVar |
PMID:25981006 |
|
NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075
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G |
Krt10 |
keratin 10 |
|
ISO |
ClinVar Annotator: match by term: Epidermolytic acanthoma |
ClinVar |
PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:21271994 PMID:22930352 PMID:25741868 PMID:26176760 PMID:28492532 PMID:28532675 PMID:32045015 More...
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NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
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G |
Col4a5 |
collagen type IV alpha 5 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17069596 |
|
NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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G |
Col4a6 |
collagen type IV alpha 6 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17069596 |
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NCBI chr X:104,766,463...105,117,499
Ensembl chr X:104,766,957...105,117,500
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G |
Abcc2 |
ATP binding cassette subfamily C member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21206495 |
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NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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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 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773
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G |
Ajuba |
ajuba LIM protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
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NCBI chr15:28,019,775...28,031,537
Ensembl chr15:28,019,778...28,030,021
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G |
Akt1 |
AKT serine/threonine kinase 1 |
disease_progression |
ISO |
protein:increased expression:esophagus (human) |
RGD |
PMID:32642408 |
RGD:152995512 |
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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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 chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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G |
Anxa1 |
annexin A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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G |
Atm |
ATM serine/threonine kinase |
disease_progression |
ISO |
Smoke Inhalation Injury; mRNA:increased expression:esophagus (human) |
RGD |
PMID:17019709 |
RGD:150340713 |
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
Atp1b2 |
ATPase Na+/K+ transporting subunit beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25129146 |
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NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
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G |
Axin1 |
axin 1 |
disease_progression |
ISO |
protein:decreased expression:esophagus (human) |
RGD |
PMID:12771989 |
RGD:150530473 |
NCBI chr10:15,163,477...15,215,615
Ensembl chr10:15,163,684...15,215,615
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G |
Azgp1 |
alpha-2-glycoprotein 1, zinc-binding |
disease_progression |
ISO |
|
RGD |
PMID:28053542 |
RGD:153350138 |
NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
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G |
Azin1 |
antizyme inhibitor 1 |
|
ISO |
|
RGD |
PMID:24302582 |
RGD:14700707 |
NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578
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G |
B2m |
beta-2 microglobulin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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G |
Blvrb |
biliverdin reductase B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375
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G |
Bmi1 |
BMI1 proto-oncogene, polycomb ring finger |
|
ISO |
|
RGD |
PMID:21165554 |
RGD:126781701 |
NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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G |
Bmp6 |
bone morphogenetic protein 6 |
|
ISO |
protein:increased expression:esophagus |
RGD |
PMID:22364398 |
RGD:7242413 |
NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365
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G |
Brca1 |
BRCA1, DNA repair associated |
|
ISO |
DNA:SNP: :rs799917 (human) |
RGD |
PMID:23749772 |
RGD:126925960 |
NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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G |
Brca2 |
BRCA2, DNA repair associated |
|
ISO |
DNA:nonsense mutation: :p.K3326X (human) |
RGD |
PMID:21279724 |
RGD:11344913 |
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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G |
Bst2 |
bone marrow stromal cell antigen 2 |
disease_progression |
ISO |
|
RGD |
PMID:26832883 |
RGD:14398496 |
NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979
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G |
Bub1b |
BUB1 mitotic checkpoint serine/threonine kinase B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18691855 |
|
NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
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G |
Calr |
calreticulin |
ameliorates |
ISO |
CTD Direct Evidence: marker/mechanism human cells in a mouse model |
CTD RGD |
PMID:21517111 PMID:19684620 PMID:23814025 |
RGD:150521703, RGD:150521679 |
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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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 2:192,319,696...192,364,755
Ensembl chr 2:192,319,702...192,364,480
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G |
Car1 |
carbonic anhydrase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 2:86,829,436...86,872,209
Ensembl chr 2:86,861,897...86,872,208
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G |
Car12 |
carbonic anhydrase 12 |
severity |
ISO |
|
RGD |
PMID:26316888 |
RGD:155226859 |
NCBI chr 8:67,274,739...67,330,428
Ensembl chr 8:67,274,359...67,330,440
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G |
Car2 |
carbonic anhydrase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
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G |
Casp8 |
caspase 8 |
exacerbates |
ISO |
mRNA,protein:decreased expression:esophagus squamous epithelium (human) |
RGD |
PMID:31885720 |
RGD:153300949 |
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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G |
Cbx8 |
chromobox 8 |
severity |
ISO |
mRNA:increased expression:esophagus: |
RGD |
PMID:25197352 |
RGD:9587436 |
NCBI chr10:104,294,518...104,296,956
Ensembl chr10:104,294,518...104,297,024
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G |
Cchcr1 |
coiled-coil alpha-helical rod protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29379198 |
|
NCBI chr20:3,205,675...3,218,437
Ensembl chr20:3,205,676...3,218,308
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G |
Ccnd1 |
cyclin D1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15375580 |
|
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
|
ISO |
DNA:SNPs: :rs615552, rs573687 (human) |
RGD |
PMID:23361049 |
RGD:7248756 |
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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G |
Cfl1 |
cofilin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
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|
G |
Chrna5 |
cholinergic receptor nicotinic alpha 5 subunit |
susceptibility |
ISO |
DNA:SNP: :rs667282(human) mRNA:increased expression:esophagus (human) |
RGD |
PMID:23844051 PMID:27610024 |
RGD:150524358, RGD:151361143 |
NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146
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|
G |
Chrna7 |
cholinergic receptor nicotinic alpha 7 subunit |
exacerbates disease_progression |
ISO |
mRNA:increased expression:esophagus (human) |
RGD |
PMID:27610024 PMID:33603170 PMID:33603170 |
RGD:151361143, RGD:151667905, RGD:151667905 |
NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240
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G |
Chrnb4 |
cholinergic receptor nicotinic beta 4 subunit |
|
ISO |
mRNA:increased expression:esophagus (human) |
RGD |
PMID:27610024 |
RGD:151361143 |
NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027
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G |
Clic1 |
chloride intracellular channel 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712
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|
G |
Clptm1l |
CLPTM1-like |
susceptibility no_association |
ISO |
DNA:SNP: :rs451360(human) DNA:SNP: :rs401681(human) mRNA:increased expression:esophagus |
RGD |
PMID:26716642 PMID:24386361 PMID:25480402 PMID:25007268 |
RGD:11572962, RGD:150537098, RGD:150530497, RGD:150530488 |
NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
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|
G |
Col14a1 |
collagen type XIV alpha 1 chain |
disease_progression |
ISO |
DNA:hypermethylation |
RGD |
PMID:25050929 |
RGD:151665741 |
NCBI chr 7:86,722,093...86,937,215
Ensembl chr 7:86,722,094...86,937,214
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|
G |
Crabp1 |
cellular retinoic acid binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17438526 |
|
NCBI chr 8:55,138,363...55,159,360
Ensembl chr 8:55,151,285...55,159,360
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G |
Crebbp |
CREB binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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G |
Csf1r |
colony stimulating factor 1 receptor |
|
ISO |
mRNA:decreased expression:esophagus squamous epithelium (human) |
RGD |
PMID:32038997 |
RGD:150524298 |
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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|
G |
Cstb |
cystatin B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
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|
G |
Ctnnb1 |
catenin beta 1 |
|
ISO |
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma |
ClinVar |
PMID:25157968 PMID:25741868 PMID:26619011 |
|
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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G |
Cxcr4 |
C-X-C motif chemokine receptor 4 |
disease_progression |
ISO |
protein:increased expression:esophagus squamous epithelium (human) |
RGD |
PMID:17171785 |
RGD:152023646 |
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
ISO |
|
RGD |
PMID:11860825 |
RGD:14700943 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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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 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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|
G |
Cyp24a1 |
cytochrome P450, family 24, subfamily a, polypeptide 1 |
susceptibility |
ISO |
DNA:SNP:CDS: (rs2296241) (human) |
RGD |
PMID:28362172 |
RGD:151665500 |
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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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 4:117,041,808...117,058,628
Ensembl chr 4:117,041,808...117,058,628
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|
G |
Dab2ip |
DAB2 interacting protein |
severity |
ISO |
protein:decreased expression:esophagus (human) |
RGD |
PMID:30464518 |
RGD:151665168 |
NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280
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|
G |
Dcc |
DCC netrin 1 receptor |
|
ISO |
DNA:deletions:multiple (human) |
RGD |
PMID:8187090 |
RGD:734879 |
NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
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|
G |
Dido1 |
death inducer-obliterator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30431698 |
|
NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218
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|
G |
Dnmt3b |
DNA methyltransferase 3 beta |
disease_progression |
ISO |
protein:increased expression:nucleus: |
RGD |
PMID:22213175 |
RGD:9589085 |
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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|
G |
Dpp4 |
dipeptidylpeptidase 4 |
|
ISO |
protein:increased expression: esophagus |
RGD |
PMID:24789592 |
RGD:152600903 |
NCBI chr 3:46,962,233...47,043,870
Ensembl chr 3:46,962,243...47,043,901
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G |
Efnb2 |
ephrin B2 |
severity exacerbates ameliorates |
ISO |
mRNA:increased expression:esophagus squamous epithelium (human) mRNA,protein:increased expression:esophagus squamous epithelium (human) human cells in mouse model |
RGD |
PMID:17611172 PMID:31885720 PMID:29190834 |
RGD:153300947, RGD:153300949, RGD:153300948 |
NCBI chr16:80,783,389...80,827,420
Ensembl chr16:80,783,417...80,824,391
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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 RGD |
PMID:21947696 PMID:23485129 PMID:25157968 PMID:10385363 |
RGD:5131486 |
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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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 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
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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 chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
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|
G |
Ep300 |
E1A binding protein p300 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17965222 PMID:25151357 |
|
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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|
G |
Epb41l3 |
erythrocyte membrane protein band 4.1-like 3 |
disease_progression |
ISO |
DNA:hypermethylation |
RGD |
PMID:25050929 |
RGD:151665741 |
NCBI chr 9:109,056,178...109,260,607
Ensembl chr 9:109,016,113...109,260,607
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|
G |
Ephb4 |
EPH receptor B4 |
exacerbates |
ISO |
mRNA,protein:increased expression:esophagus squamous epithelium (human) |
RGD |
PMID:31885720 |
RGD:153300949 |
NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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|
G |
Erbb4 |
erb-b2 receptor tyrosine kinase 4 |
susceptibility disease_progression |
ISO |
DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human) protein:altered localization:nucleus |
RGD |
PMID:24916311 PMID:18000820 |
RGD:126781764, RGD:126781765 |
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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|
G |
Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
treatment |
ISO |
|
RGD |
PMID:23263828 |
RGD:11252162 |
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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|
G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
disease_progression |
ISO |
|
RGD |
PMID:25613619 PMID:21165554 |
RGD:126781697, RGD:126781701 |
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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|
G |
Fanca |
FA complementation group A |
|
ISO |
DNA:missense mutation: :p.S858R (human) |
RGD |
PMID:21279724 |
RGD:11344913 |
NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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G |
Fap |
fibroblast activation protein, alpha |
|
ISO |
protein:increased expression: esophagus |
RGD |
PMID:24789592 |
RGD:152600903 |
NCBI chr 3:47,138,823...47,207,671
Ensembl chr 3:47,138,813...47,225,545
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G |
Fasn |
fatty acid synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29379198 |
|
NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261
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G |
Fat1 |
FAT atypical cadherin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism protein:decreased expression:esophagus squamous epithelium (human) |
CTD RGD |
PMID:25151357 PMID:29365412 PMID:24590895 |
RGD:151347646, RGD:151347630 |
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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G |
Fat2 |
FAT atypical cadherin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr10:39,364,072...39,456,324
Ensembl chr10:39,364,073...39,456,216
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G |
Fat3 |
FAT atypical cadherin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 8:12,691,470...13,274,336
Ensembl chr 8:12,694,019...13,273,135
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G |
Fat4 |
FAT atypical cadherin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
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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 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
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G |
Fes |
FES proto-oncogene, tyrosine kinase |
exacerbates |
ISO |
DNA:hypermethylation: (human) |
RGD |
PMID:24936140 |
RGD:153323298 |
NCBI chr 1:134,337,698...134,346,934
Ensembl chr 1:134,337,698...134,346,934
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G |
Fgfr4 |
fibroblast growth factor receptor 4 |
treatment |
ISO |
|
RGD |
PMID:25989802 |
RGD:150520041 |
NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
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G |
Fkbp1a |
FKBP prolyl isomerase 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743
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G |
Foxa1 |
forkhead box A1 |
onset |
ISO |
DNA:SNPs: :rs12894364 C>T, rs2145146 C>A (human) |
RGD |
PMID:27050876 PMID:29788741 |
RGD:151665743, RGD:151665759 |
NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
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G |
Fubp1 |
far upstream element binding protein 1 |
exacerbates |
ISO |
protein:increased expression:esophagus (human) mRNA:increased expression:esophagus (human) |
RGD |
PMID:26490982 PMID:32481602 |
RGD:151361192, RGD:151361197 |
NCBI chr 2:241,159,481...241,186,591
Ensembl chr 2:241,159,512...241,186,602
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G |
Gdi2 |
GDP dissociation inhibitor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr17:66,649,616...66,676,299
Ensembl chr17:66,649,619...66,676,366
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G |
Glo1 |
glyoxalase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649
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G |
Gpx3 |
glutathione peroxidase 3 |
disease_progression |
ISO |
DNA:hypermethylation |
RGD |
PMID:30018730 PMID:25050929 |
RGD:151665494, RGD:151665741 |
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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G |
Grb7 |
growth factor receptor bound protein 7 |
exacerbates |
ISO |
protein:increased expression:esophagus (human) |
RGD |
PMID:10797316 |
RGD:151347654 |
NCBI chr10:83,443,387...83,453,057
Ensembl chr10:83,444,004...83,453,052
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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 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gsto1 |
glutathione S-transferase omega 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 1:246,721,089...246,731,228
Ensembl chr 1:246,721,221...246,731,468
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|
G |
Gstp1 |
glutathione S-transferase pi 1 |
|
ISO |
DNA:polymorphism: :p.I105V (human) |
RGD |
PMID:17916905 |
RGD:14700982 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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|
G |
Gstt1 |
glutathione S-transferase theta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17173682 PMID:25432134 PMID:17916905 |
RGD:14700948, RGD:14700982 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
H19 |
H19 imprinted maternally expressed transcript |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32739445 |
|
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17201171 |
|
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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G |
Hmgb1 |
high mobility group box 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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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:74,085,871...74,094,488
Ensembl chr X:74,085,875...74,094,441
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G |
Hoxb7 |
homeo box B7 |
severity |
ISO |
protein:increased expression:esophageal mucosa (human) |
RGD |
PMID:26076456 |
RGD:10402177 |
NCBI chr10:81,252,616...81,256,034
Ensembl chr10:81,252,553...81,256,034
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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 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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G |
Htra1 |
HtrA serine peptidase 1 |
exacerbates ameliorates |
ISO |
mRNA,protein:decreased expression:epithelium of esophagus (human) human gene and cells in mouse model |
RGD |
PMID:23079781 PMID:23079781 |
RGD:152975633, RGD:152975633 |
NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
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|
G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
severity |
ISO |
human cells in mouse model |
RGD |
PMID:32367071 |
RGD:149735568 |
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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G |
Jak2 |
Janus kinase 2 |
severity |
ISO |
protein:increased phosphorylation:esophagus squamous epithelium (human) |
RGD |
PMID:32158193 |
RGD:127285669 |
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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|
G |
Junb |
JunB proto-oncogene, AP-1 transcription factor subunit |
exacerbates |
ISO |
protein:increased expression:esophagus (human) |
RGD |
PMID:30227324 PMID:19758438 |
RGD:151347669, RGD:151347672 |
NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
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|
G |
Kat2b |
lysine acetyltransferase 2B |
|
ISO |
mRNA:decreased expression:esophagus (human) |
RGD |
PMID:19525977 |
RGD:9590307 |
NCBI chr 9:6,562,525...6,667,064
Ensembl chr 9:6,562,288...6,667,064
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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 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818
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|
G |
Kdm5b |
lysine demethylase 5B |
severity |
ISO |
protein:increased expression:esophageal mucosa, cytoplasm (human) |
RGD |
PMID:22534467 |
RGD:9587776 |
NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872
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|
G |
Kdm6a |
lysine demethylase 6A |
ameliorates |
ISO |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:esophagus (human) protein:increased expression:esophagus (human) |
CTD RGD |
PMID:25151357 PMID:31804468 PMID:29351209 |
RGD:150429742, RGD:150429739 |
NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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G |
Kmt2c |
lysine methyltransferase 2C |
|
ISO |
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:25151357 PMID:25151357 |
RGD:9588233 |
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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G |
Kmt2d |
lysine methyltransferase 2D |
|
ISO |
DNA:mutations:multiple (human) mRNA:increased expression:esophagus CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:25151357 PMID:25151357 PMID:29532228 |
RGD:9588233, RGD:150521712 |
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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G |
Krt13 |
keratin 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr10:85,051,887...85,056,099
Ensembl chr10:85,051,889...85,056,084
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G |
Krt14 |
keratin 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16543248 |
|
NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799
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G |
Krt16 |
keratin 16 |
|
IEP |
|
RGD |
PMID:8950218 |
RGD:633113 |
NCBI chr10:85,168,357...85,171,816
Ensembl chr10:85,066,802...85,171,799
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G |
Krt17 |
keratin 17 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392
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G |
Krt19 |
keratin 19 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr10:85,075,835...85,080,552
Ensembl chr10:85,066,802...85,171,799
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G |
Krt7 |
keratin 7 |
disease_progression |
ISO |
|
RGD |
PMID:29788741 |
RGD:151665759 |
NCBI chr 7:132,528,881...132,545,052
Ensembl chr 7:132,528,895...132,545,052
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|
G |
Loxl2 |
lysyl oxidase-like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24716982 |
|
NCBI chr15:44,683,449...44,773,067
Ensembl chr15:44,683,880...44,773,067
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G |
Lta |
lymphotoxin alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29379198 |
|
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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|
G |
Lzts1 |
leucine zipper tumor suppressor 1 |
|
ISO |
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic |
ClinVar |
PMID:10097140 |
|
NCBI chr16:20,542,756...20,598,204
Ensembl chr16:20,542,809...20,598,203
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|
G |
Mad2l1 |
mitotic arrest deficient 2 like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18691855 |
|
NCBI chr 4:95,906,692...95,918,885
Ensembl chr 4:95,906,817...95,913,470
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|
G |
Map3k1 |
mitogen-activated protein kinase kinase kinase 1 |
sexual_dimorphism |
ISO |
DNA:missense mutation, SNP:CDS, exon 14, 3'-UTR: (rs702689,rs702688) (human) |
RGD |
PMID:32753933 |
RGD:150573717 |
NCBI chr 2:43,348,572...43,414,706
Ensembl chr 2:43,350,098...43,414,463
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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 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982
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|
G |
Mgmt |
O-6-methylguanine-DNA methyltransferase |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism DNA, protein:hypermethylation, decreased expression:promoter, esophagus |
CTD RGD |
PMID:25520135 PMID:21674174 |
RGD:126790574 |
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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G |
Mir10a |
microRNA 10a |
|
ISO |
miRNA:increased expression:esophagus squamous epithelium (human) |
RGD |
PMID:32997362 |
RGD:153323343 |
NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280
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G |
Mir127 |
microRNA 127 |
|
ISO |
RNA:decreased expression:esophagus (human) |
RGD |
PMID:27645894 |
RGD:152995354 |
NCBI chr 6:128,546,215...128,546,311
Ensembl chr 6:128,546,215...128,546,311
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G |
Mir193a |
microRNA 193a |
exacerbates |
ISO |
miRNA:decreased expression:esophagus (human) |
RGD |
PMID:27203740 |
RGD:153323341 |
NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
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G |
Mir217 |
microRNA 217 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25538231 |
|
NCBI chr14:102,531,505...102,531,609
Ensembl chr14:102,531,505...102,531,609
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G |
Mir31 |
microRNA 31 |
ameliorates |
IMP ISO |
|
RGD |
PMID:32123074 PMID:21658006 |
RGD:127285381, RGD:152998938 |
NCBI chr 5:103,599,038...103,599,143
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G |
Mir423 |
microRNA 423 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24205249 |
|
NCBI chr10:61,914,142...61,914,220
Ensembl chr10:61,914,133...61,914,226
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G |
Mir494 |
microRNA 494 |
|
ISO |
mRNA:decreased expression:esophagus |
RGD |
PMID:25480402 |
RGD:150530497 |
NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793
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G |
Mlh1 |
mutL homolog 1 |
disease_progression |
ISO |
DNA, protein:hypermethylation, decreased expression:promoter, esophagus |
RGD |
PMID:21674174 |
RGD:126790574 |
NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
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G |
Mmp14 |
matrix metallopeptidase 14 |
|
ISO |
protein:increased expression: esophagus |
RGD |
PMID:24789592 |
RGD:152600903 |
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
protein:increased activity: esophagus |
RGD |
PMID:24789592 |
RGD:152600903 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased activity: esophagus |
RGD |
PMID:24789592 |
RGD:152600903 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Msh2 |
mutS homolog 2 |
disease_progression |
ISO |
DNA, protein:hypermethylation, decreased expression:promoter, esophagus DNA, protein:hypermethylation, decreased expression:esophagus |
RGD |
PMID:22265839 PMID:21674174 PMID:24366688 |
RGD:126790560, RGD:126790574, RGD:126790573 |
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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G |
Notch1 |
notch receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Notch2 |
notch receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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G |
Notch3 |
notch receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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|
G |
Pagr1 |
Paxip1-associated glutamate-rich protein 1 |
|
ISO |
mRNA, protein:decreased expression:esophagus (human) |
RGD |
PMID:33833989 |
RGD:153344568 |
NCBI chr 1:181,622,698...181,625,024
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|
G |
Pbx3 |
PBX homeobox 3 |
|
ISO |
RNA:increased expression:esophagus squamous epithelium (human) |
RGD |
PMID:32449803 |
RGD:153345544 |
NCBI chr 3:17,488,691...17,682,412
Ensembl chr 3:17,488,693...17,682,791
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G |
Pfn1 |
profilin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631
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G |
Plce1 |
phospholipase C, epsilon 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20729852 PMID:20729853 |
|
NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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G |
Prdx1 |
peroxiredoxin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 5:130,147,258...130,162,856
Ensembl chr 5:130,147,204...130,162,856
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G |
Psmb9 |
proteasome 20S subunit beta 9 |
disease_progression |
ISO |
|
RGD |
PMID:19492245 |
RGD:6482249 |
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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G |
Psme1 |
proteasome activator subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890
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G |
Psme2 |
proteasome activator subunit 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946
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G |
Ptch1 |
patched 1 |
disease_progression |
ISO |
|
RGD |
PMID:16475698 |
RGD:150523841 |
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15756444 PMID:16543248 PMID:18197933 |
|
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
Ptprt |
protein tyrosine phosphatase, receptor type, T |
susceptibility |
ISO |
DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human) |
RGD |
PMID:25967969 |
RGD:150520191 |
NCBI chr 3:150,189,343...151,288,145
Ensembl chr 3:150,194,859...151,288,124
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G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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|
G |
Rictor |
RPTOR independent companion of MTOR, complex 2 |
disease_progression severity |
ISO |
human cells in mouse model protein:increased expression:esophagus (human) |
RGD |
PMID:30119206 PMID:32642408 PMID:28132115 |
RGD:152995460, RGD:152995512, RGD:152995470 |
NCBI chr 2:55,811,877...55,903,893
Ensembl chr 2:55,811,322...55,901,426
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G |
Rnf6 |
ring finger protein 6 |
|
ISO |
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic |
ClinVar |
PMID:12154016 |
|
NCBI chr12:8,816,797...8,826,870
Ensembl chr12:8,816,833...8,826,847
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G |
Runx1 |
RUNX family transcription factor 1 |
|
ISO |
DNA:SNP: :rs2014300 (human) |
RGD |
PMID:30666517 |
RGD:126775149 |
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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G |
Runx2 |
RUNX family transcription factor 2 |
|
ISO |
mRNA:increased expression:esophagus mucosa |
RGD |
PMID:18500170 |
RGD:126779568 |
NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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G |
Runx3 |
RUNX family transcription factor 3 |
disease_progression |
ISO |
mRNA:decreased expression:esophagus mucosa |
RGD |
PMID:18500170 |
RGD:126779568 |
NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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G |
Sall4 |
spalt-like transcription factor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30431698 |
|
NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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G |
Serpinb3 |
serpin family B member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr13:23,274,120...23,280,660
Ensembl chr13:23,274,484...23,313,682
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G |
Setd5 |
SET domain containing 5 |
disease_progression |
ISO |
|
RGD |
PMID:31981592 |
RGD:155804254 |
NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
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G |
Sfn |
stratifin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 5:145,826,722...145,827,994
Ensembl chr 5:145,826,201...145,831,314
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G |
Slc16a10 |
solute carrier family 16 member 10 |
|
ISO |
protein:increased expression:esophagus |
RGD |
PMID:33609949 |
RGD:151361149 |
NCBI chr20:43,454,819...43,567,839
Ensembl chr20:43,459,709...43,567,839
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G |
Slc1a5 |
solute carrier family 1 member 5 |
disease_progression |
ISO |
protein:increased expression:esophagus |
RGD |
PMID:33609949 PMID:26936531 |
RGD:151361149, RGD:11532833 |
NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952
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G |
Slc39a6 |
solute carrier family 39 member 6 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:23644492 |
|
NCBI chr18:15,864,874...15,885,417
Ensembl chr18:15,864,875...15,885,417
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G |
Slc52a3 |
solute carrier family 52 member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20729853 |
|
NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096
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G |
Slc7a5 |
solute carrier family 7 member 5 |
disease_progression |
ISO |
protein:increased expression:esophagus |
RGD |
PMID:31726270 PMID:26936531 PMID:33609949 |
RGD:151361144, RGD:11532833, RGD:151361149 |
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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G |
Socs1 |
suppressor of cytokine signaling 1 |
severity treatment |
ISO |
mRNA:decreased expression:esophagus |
RGD |
PMID:21385099 PMID:31728180 PMID:28233302 |
RGD:150573691, RGD:150573815, RGD:150573812 |
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18167182 PMID:21517111 |
|
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Sox2 |
SRY-box transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19801978 |
|
NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
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G |
Spen |
spen family transcriptional repressor |
|
ISO |
associated with Neoplasm Metastasis; DNA:mutations |
RGD |
PMID:33363385 |
RGD:151347445 |
NCBI chr 5:153,775,287...153,848,677
Ensembl chr 5:153,776,234...153,848,811
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G |
Stim1 |
stromal interaction molecule 1 |
exacerbates |
ISO |
protein:increased expression:esophagus (human) |
RGD |
PMID:31843504 |
RGD:152995393 |
NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
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G |
Sting1 |
stimulator of interferon response cGAMP interactor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25129146 |
|
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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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 1:181,272,022...181,276,750
Ensembl chr 1:181,272,023...181,275,562
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|
G |
Tagln |
transgelin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668
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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 chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
|
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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 chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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|
G |
Tcn2 |
transcobalamin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29379198 |
|
NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
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|
G |
Tert |
telomerase reverse transcriptase |
susceptibility no_association |
ISO |
DNA:SNPs: : rs2853691,rs2736100(human) mRNA:increased expression:esophagus squamous epithelium: DNA:SNP: :rs2736098(human) |
RGD |
PMID:26716642 PMID:15112252 PMID:25007268 |
RGD:11572962, RGD:152977757, RGD:150530488 |
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
|
|
G |
Tet2 |
tet methylcytosine dioxygenase 2 |
severity |
ISO |
mRNA:decreased expression:esophagus squamous epithelium (human) associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human) DNA:mutations |
RGD |
PMID:26093090 PMID:27050164 PMID:26873401 |
RGD:11528815, RGD:150429668, RGD:150429656 |
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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|
G |
Tet3 |
tet methylcytosine dioxygenase 3 |
|
ISO |
mRNA:decreased expression:esophagus squamous epithelium (human) |
RGD |
PMID:27050164 |
RGD:150429668 |
NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193
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|
G |
Tnfaip3 |
TNF alpha induced protein 3 |
severity |
ISO |
mRNA,protein:increased expression:esophagus squamous epithelium (human) |
RGD |
PMID:28197630 |
RGD:151347617 |
NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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|
G |
Tnfaip8 |
TNF alpha induced protein 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21969086 |
|
NCBI chr18:43,183,854...43,299,512
Ensembl chr18:43,183,916...43,299,517
|
|
G |
Tnxb |
tenascin XB |
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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 RGD |
PMID:16543248 PMID:25151357 PMID:28789369 |
RGD:14995932 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Tpi1 |
triosephosphate isomerase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
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G |
Tpm1 |
tropomyosin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
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G |
Tpm2 |
tropomyosin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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G |
Txndc17 |
thioredoxin domain containing 17 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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NCBI chr10:56,832,749...56,835,721
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G |
Tymp |
thymidine phosphorylase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11641616 |
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NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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G |
Usp8 |
ubiquitin specific peptidase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35022897 |
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NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666
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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:942,838...1,105,313
Ensembl chr Y:924,168...1,103,422
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G |
Ventx |
VENT homeobox |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30431698 |
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NCBI chr X:86,483,893...86,484,900
Ensembl chr X:86,483,893...86,484,954
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G |
Wrap53 |
WD repeat containing, antisense to TP53 |
disease_progression |
ISO |
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RGD |
PMID:24626331 |
RGD:21081532 |
NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
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G |
Wwox |
WW domain-containing oxidoreductase |
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ISO |
esophageal squamous cell carcinoma, OMIM:133239 ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:11956080 PMID:25526675 PMID:28492532 PMID:11956080 |
RGD:1599874 |
NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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G |
Xpo1 |
exportin 1 |
exacerbates |
ISO |
mRNA, protein:increased expression:epithelium of esophagus (human) protein:increased expression:esophagus (human) |
RGD |
PMID:24898882 PMID:25148895 |
RGD:151667431, RGD:151667436 |
NCBI chr14:97,233,282...97,275,536
Ensembl chr14:97,233,270...97,275,498
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G |
Xrcc1 |
X-ray repair cross complementing 1 |
no_association susceptibility treatment |
ISO |
CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds: p.R399Q (human) DNA:SNPs,haplotypes:multiple (human) DNA:SNPs:exon 6, exon 9, exon 10:multiple (human) |
CTD RGD |
PMID:16639733 PMID:11400117 PMID:25710005 PMID:27123143 PMID:28356949 |
RGD:151347444, RGD:150530501, RGD:150530634, RGD:150530505 |
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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G |
Zcchc12 |
zinc finger CCHC-type containing 12 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30431698 |
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NCBI chr X:115,433,444...115,436,691
Ensembl chr X:115,433,259...115,436,692
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G |
Akt1 |
AKT serine/threonine kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17942926 |
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NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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G |
Apc |
APC regulator of WNT signaling pathway |
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ISO ISS IMP |
ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL | ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis ClinVar Annotator: match by term: APC-Associated Polyposis Disorders | ClinVar Annotator: match by term: Adenomatous colonic polyposis | ClinVar Annotator: match by term: Familial adenomatous polyposis | ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis | ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL CTD Direct Evidence: marker/mechanism DNA:point mutation:CDS:p.K1137X (3409A>T) (rat) |
ClinVar MouseDO CTD RGD |
PMID:1316610 PMID:1319115 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1528264 PMID:1651174 PMID:1651563 PMID:1944466 PMID:2000873 PMID:2281069 PMID:2472832 PMID:2478327 PMID:7524601 PMID:7562975 PMID:7833931 PMID:7833936 PMID:7853377 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:8941012 PMID:8956059 PMID:8990002 PMID:9101302 PMID:9288102 PMID:9298819 PMID:9342373 PMID:9487968 PMID:9494520 PMID:9536098 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:10077047 PMID:10083733 PMID:10094547 PMID:10439961 PMID:10470088 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:11221825 PMID:11247895 PMID:11247896 PMID:11267860 PMID:11317365 PMID:11354631 PMID:11420398 PMID:11551102 PMID:11559652 PMID:11588890 PMID:11606402 PMID:11720476 PMID:11741105 PMID:11748858 PMID:11766074 PMID:11818965 PMID:11823972 PMID:11904335 PMID:11933206 PMID:11950808 PMID:11960572 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12172928 PMID:12173026 PMID:12173321 PMID:12357334 PMID:12374230 PMID:12394442 PMID:12408524 PMID:12486240 PMID:12494469 PMID:12533824 PMID:12537656 PMID:12581900 PMID:12621137 PMID:12702169 PMID:12901799 PMID:14523376 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:15266213 PMID:15300576 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15689459 PMID:15712637 PMID:15771908 PMID:15833136 PMID:15857185 PMID:15929773 PMID:15951963 PMID:16088911 PMID:16110024 PMID:16134147 PMID:16199547 PMID:16228836 PMID:16292097 PMID:16317745 PMID:16461775 PMID:16569251 PMID:16650078 PMID:16875934 PMID:17026565 PMID:17119068 PMID:17135589 PMID:17293347 PMID:17411426 PMID:17486639 PMID:17489848 PMID:17556698 PMID:17568392 PMID:17576681 PMID:17604324 PMID:17704924 PMID:17785554 PMID:17854661 PMID:17920230 PMID:17942926 PMID:17963004 PMID:18063416 PMID:18155426 PMID:18199528 PMID:18343606 PMID:18433509 PMID:18612690 PMID:18632633 PMID:18704758 PMID:18770064 PMID:18794146 PMID:18844223 PMID:18948947 PMID:18992635 PMID:19029688 PMID:19036155 PMID:19196998 PMID:19347965 PMID:19444466 PMID:19474113 PMID:19531215 PMID:19701947 PMID:19725996 PMID:19768578 PMID:19793053 PMID:20007843 PMID:20223039 PMID:20233475 PMID:20301519 PMID:20333795 PMID:20434453 PMID:20564245 PMID:20649969 PMID:20685668 PMID:20924072 PMID:20977806 PMID:21110124 PMID:21153778 PMID:21270786 PMID:21315632 PMID:21643010 PMID:21779980 PMID:21859464 PMID:21901162 PMID:21902576 PMID:21970370 PMID:21995669 PMID:21995949 PMID:22000517 PMID:22135120 PMID:22150579 PMID:22425061 PMID:22675565 PMID:22703879 PMID:22722839 PMID:22773231 PMID:22810696 PMID:22848674 PMID:22851115 PMID:22864938 PMID:22875147 PMID:22987206 PMID:22995991 PMID:23085758 PMID:23116752 PMID:23159591 PMID:23204322 PMID:23292937 PMID:23460355 PMID:23484150 PMID:23561487 PMID:23576677 PMID:23700467 PMID:23709753 PMID:23757202 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:24518971 PMID:24549056 PMID:24573554 PMID:24599579 PMID:24651453 PMID:24664542 PMID:24728327 PMID:24735542 PMID:24790607 PMID:24841357 PMID:24861525 PMID:25085752 PMID:25142776 PMID:25157968 PMID:25159915 PMID:25178641 PMID:25186627 PMID:25200834 PMID:25203624 PMID:25280562 PMID:25356985 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:25974703 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26000489 PMID:26138249 PMID:26161710 PMID:26173098 PMID:26187149 PMID:26207792 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:26690363 PMID:26692440 PMID:26837502 PMID:26840078 PMID:26845104 PMID:26900293 PMID:26917275 PMID:26934580 PMID:26976419 PMID:27028212 PMID:27081525 PMID:27121310 PMID:27124905 PMID:27146957 PMID:27150160 PMID:27153395 PMID:27156442 PMID:27158207 PMID:27354939 PMID:27435373 PMID:27443514 PMID:27574554 PMID:27600092 PMID:27621404 PMID:27623068 PMID:27696107 PMID:27878467 PMID:27930734 PMID:27978560 PMID:28050010 PMID:28125075 PMID:28127413 PMID:28135136 PMID:28135145 PMID:28152038 PMID:28202063 PMID:28251689 PMID:28283864 PMID:28349240 PMID:28414304 PMID:28423518 PMID:28492532 PMID:28502729 PMID:28533537 PMID:28576136 PMID:28608266 PMID:28749474 PMID:28791770 PMID:28828701 PMID:28840378 PMID:28873162 PMID:28944238 PMID:29029407 PMID:29122597 PMID:29245953 PMID:29367705 PMID:29368261 PMID:29386312 PMID:29406563 PMID:29419868 PMID:29478780 PMID:29506128 PMID:29562902 PMID:29641532 PMID:29683816 PMID:29684080 PMID:29710228 PMID:29915797 PMID:29945567 PMID:29961768 PMID:29978187 PMID:29987844 PMID:30067863 PMID:30113427 PMID:30152102 PMID:30256826 PMID:30267214 PMID:30306255 PMID:30374176 PMID:30426508 PMID:30487145 PMID:30613976 PMID:30620386 PMID:30680046 PMID:30814645 PMID:30877237 PMID:30897307 PMID:30980208 PMID:31019283 PMID:31054147 PMID:31062380 PMID:31069152 PMID:31113927 PMID:31159747 PMID:31269945 PMID:31278746 PMID:31283021 PMID:31285513 PMID:31428572 PMID:31444830 PMID:31447099 PMID:31465090 PMID:31570899 PMID:31874108 PMID:31942411 PMID:32292534 PMID:32547059 PMID:32658311 PMID:32854451 PMID:32980694 PMID:32994724 PMID:33009979 PMID:33193653 PMID:33279946 PMID:33332384 PMID:33352971 PMID:33436027 PMID:33503190 PMID:33753878 PMID:33773808 PMID:33788735 PMID:34250417 PMID:34347074 PMID:34479915 PMID:34897210 PMID:35142982 PMID:35264596 PMID:35430768 PMID:35979026 PMID:36097219 PMID:36356413 PMID:36988593 PMID:18432252 PMID:17360473 PMID:15118671 More...
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RGD:2293188, RGD:1601201, RGD:1331525 |
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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G |
ApcPirc |
APC, WNT signaling pathway regulator; polyposis in the rat colon |
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IMP |
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RGD |
PMID:17360473 |
RGD:1601201 |
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G |
Axin2 |
axin 2 |
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ISO |
protein:increased expression:mucosa: |
RGD |
PMID:11809809 |
RGD:151356508 |
NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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G |
Cd44 |
CD44 molecule (Indian blood group) |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28255344 |
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NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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G |
Csf1r |
colony stimulating factor 1 receptor |
severity |
ISO |
DNA:SNPs,haplotype:promoter:multiple (pig) |
RGD |
PMID:32717306 |
RGD:150524307 |
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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G |
Cyp26a1 |
cytochrome P450, family 26, subfamily a, polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16885356 |
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NCBI chr 1:235,471,368...235,475,204
Ensembl chr 1:235,471,298...235,475,204
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G |
Egfr |
epidermal growth factor receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25200834 |
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NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
F5 |
coagulation factor V |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25200834 |
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NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
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G |
Fmo3 |
flavin containing dimethylaniline monoxygenase 3 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17559352 |
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NCBI chr13:75,309,367...75,334,915
Ensembl chr13:75,309,374...75,328,028
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G |
Grem1 |
gremlin 1, DAN family BMP antagonist |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561515 |
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NCBI chr 3:100,512,317...100,524,001
Ensembl chr 3:100,512,313...100,524,082
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G |
Hdac2 |
histone deacetylase 2 |
treatment |
ISO |
|
RGD |
PMID:24218540 |
RGD:9590246 |
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
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G |
Ihh |
Indian hedgehog signaling molecule |
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ISO |
|
RGD |
PMID:25307863 |
RGD:11528847 |
NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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G |
Itih4 |
inter-alpha-trypsin inhibitor heavy chain 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25200834 |
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NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708
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G |
Lrg1 |
leucine-rich alpha-2-glycoprotein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25200834 |
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NCBI chr 9:947,516...949,773
Ensembl chr 9:947,516...949,813
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G |
Mcc |
MCC regulator of WNT signaling pathway |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8071957 |
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NCBI chr18:36,794,206...37,266,237
Ensembl chr18:36,798,372...37,266,819
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G |
Mir155 |
microRNA 155 |
|
ISO |
miRNA:decreased expression:colon |
RGD |
PMID:30072583 |
RGD:21409749 |
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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G |
Msh3 |
mutS homolog 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
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NCBI chr 2:23,444,326...23,585,777
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G |
Mutyh |
mutY DNA glycosylase |
|
ISO |
ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:11818965 PMID:12393807 PMID:12606733 PMID:12707038 PMID:12853198 PMID:12917422 PMID:14991577 PMID:15034862 PMID:15635083 PMID:15931596 PMID:15943555 PMID:15987719 PMID:16134147 PMID:16140997 PMID:16287072 PMID:16408224 PMID:16455870 PMID:16492921 PMID:16557584 PMID:16616356 PMID:16645203 PMID:16774938 PMID:16941501 PMID:17031395 PMID:17081686 PMID:17161978 PMID:17369389 PMID:17489848 PMID:17524638 PMID:17874208 PMID:17931073 PMID:17949294 PMID:17956577 PMID:18271935 PMID:18506705 PMID:18534194 PMID:19032956 PMID:19245865 PMID:19279422 PMID:19394335 PMID:19506731 PMID:19531215 PMID:19620482 PMID:19732775 PMID:19793053 PMID:19836313 PMID:19953527 PMID:19998059 PMID:20191381 PMID:20418187 PMID:20618354 PMID:20663686 PMID:20848659 PMID:21063410 PMID:21171015 PMID:21178863 PMID:21815886 PMID:21952991 PMID:22158503 PMID:22297469 PMID:22473953 PMID:22703879 PMID:22744763 PMID:22922830 PMID:22926731 PMID:23007840 PMID:23035301 PMID:23108399 PMID:23322991 PMID:23361220 PMID:23561487 PMID:23605219 PMID:23625202 PMID:23805267 PMID:24033266 PMID:24039736 PMID:24082139 PMID:24278394 PMID:24444654 PMID:24569162 PMID:24728327 PMID:24953332 PMID:25186627 PMID:25590978 PMID:25741868 PMID:25820570 PMID:25937855 PMID:25980754 PMID:26202870 PMID:26332594 PMID:26446593 PMID:26467025 PMID:26556299 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26902849 PMID:27014339 PMID:27153395 PMID:27194394 PMID:27829682 PMID:27870730 PMID:28127763 PMID:28135145 PMID:28152038 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28533537 PMID:28551381 PMID:28577310 PMID:28634180 PMID:28687356 PMID:28709830 PMID:28944238 PMID:29371908 PMID:29406563 PMID:29484706 PMID:29766397 PMID:29785153 PMID:29978187 PMID:30067863 PMID:30256826 PMID:30291343 PMID:30306255 PMID:30309722 PMID:30322717 PMID:30333958 PMID:30564557 PMID:30582135 PMID:30604180 PMID:30609409 PMID:30620386 PMID:30676620 PMID:30702970 PMID:30833417 PMID:30877237 PMID:31159747 PMID:31263571 PMID:31285513 PMID:31422818 PMID:31447099 PMID:31512090 PMID:31618753 PMID:31942411 PMID:31980526 PMID:32088803 PMID:32231684 PMID:32338768 PMID:32570879 PMID:32830346 PMID:32854451 PMID:33087929 PMID:33130102 PMID:33258288 PMID:33384714 PMID:33442023 PMID:33504652 PMID:34259353 PMID:34308366 PMID:34347074 PMID:34426522 PMID:35535697 PMID:11818965 More...
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RGD:1600191 |
NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146
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