|
G |
ARTN |
artemin |
|
ISO |
mRNA:increased expression:peripheral nerve: |
RGD |
PMID:19937367 |
RGD:8655552 |
NCBI chr 1:43,233,097...43,239,044
|
|
G |
BDNF |
brain derived neurotrophic factor |
|
ISO |
mRNA:increased expression:peripheral nerve: |
RGD |
PMID:19937367 |
RGD:8655552 |
NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239
|
|
G |
CAV1 |
caveolin 1 |
|
ISO |
|
RGD |
PMID:20881564 |
RGD:8661782 |
NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
|
|
G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
|
ISO |
mRNA,protein:decreased expression:myelinated nerve: |
RGD |
PMID:20600642 |
RGD:8661792 |
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
|
|
G |
CYP2E1 |
cytochrome P450 family 2 subfamily E member 1 |
|
ISO |
DNA:snp:promoter:c.-1053C>T (human) |
RGD |
PMID:12540498 |
RGD:1358568 |
Ensembl chr10:134,839,025...134,852,719
|
|
G |
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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
|
|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
disease_progression |
ISO |
|
RGD |
PMID:15354013 |
RGD:11567268 |
NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904
|
|
G |
GDNF |
glial cell derived neurotrophic factor |
|
ISO |
mRNA:increased expression:peripheral nerve: |
RGD |
PMID:19937367 |
RGD:8655552 |
NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362
|
|
G |
IGF1 |
insulin like growth factor 1 |
susceptibility |
ISO |
protein:increased expression:serum: |
RGD |
PMID:21788435 |
RGD:8548833 |
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
|
|
G |
IGFBP3 |
insulin like growth factor binding protein 3 |
susceptibility |
ISO |
protein:increased expression:serum: |
RGD |
PMID:21788435 |
RGD:8548833 |
NCBI chr 7:46,564,234...46,573,145
|
|
G |
NF2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
|
ISO |
protein:decreased expression:myelinated nerve: |
RGD |
PMID:20600642 |
RGD:8661792 |
NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013
|
|
G |
VEGFA |
vascular endothelial growth factor A |
|
ISO |
|
RGD |
PMID:14660915 |
RGD:8547959 |
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
|
|
|
G |
AIP |
aryl hydrocarbon receptor interacting protein |
|
ISO |
ClinVar Annotator: match by term: Pituitary adenoma, acth-secreting, somatic |
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...
|
|
NCBI chr11:62,841,377...62,849,664
Ensembl chr11:66,152,670...66,160,898
|
|
G |
AVPR1B |
arginine vasopressin receptor 1B |
|
ISO |
|
RGD |
PMID:23884782 |
RGD:14700670 |
NCBI chr 1:181,713,548...181,723,645
Ensembl chr 1:185,999,627...186,007,043
|
|
G |
BMP4 |
bone morphogenetic protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16195406 |
|
NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752
|
|
G |
USP8 |
ubiquitin specific peptidase 8 |
|
ISO |
|
OMIM |
|
|
NCBI chr15:29,374,945...29,451,235
Ensembl chr15:47,713,997...47,790,624
|
|
|
G |
HNF1A |
HNF1 homeobox A |
|
ISO |
|
RGD |
PMID:10489374 |
RGD:150540314 |
NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911
|
|
|
G |
ABCG2 |
ATP binding cassette subfamily G member 2 (JR blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21544799 |
|
NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157
|
|
G |
AIP |
aryl hydrocarbon receptor interacting protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22975028 |
|
NCBI chr11:62,841,377...62,849,664
Ensembl chr11:66,152,670...66,160,898
|
|
G |
ALOX5 |
arachidonate 5-lipoxygenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18927292 |
|
NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016
|
|
G |
AMACR |
alpha-methylacyl-CoA racemase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17684125 |
|
NCBI chr 5:76,336,631...76,358,724
Ensembl chr 5:81,687,891...81,742,003
|
|
G |
APC |
APC regulator of WNT signaling pathway |
|
ISO |
DNA:frameshift mutations, nonsense mutations:exon:multiple (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:9111214 PMID:10383901 PMID:11677205 PMID:12034317 PMID:19092804 PMID:30188895 More...
|
RGD:2317202 |
NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
|
|
G |
ATP1A1 |
ATPase Na+/K+ transporting subunit alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23416519 PMID:23913004 |
|
NCBI chr 1:86,162,401...86,193,883
Ensembl chr 1:121,212,488...121,243,099
|
|
G |
ATP2A3 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23913004 |
|
NCBI chr17:3,992,088...4,013,998
Ensembl chr17:3,965,925...3,998,382
|
|
G |
ATP2B3 |
ATPase plasma membrane Ca2+ transporting 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23416519 |
|
NCBI chr X:143,068,171...143,133,479
Ensembl chr X:152,955,109...153,019,445
|
|
G |
BCL2 |
BCL2 apoptosis regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10223192 PMID:10426811 |
|
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
|
|
G |
BCL2L1 |
BCL2 like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10426811 |
|
NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
|
|
G |
CACNA1D |
calcium voltage-gated channel subunit alpha1 D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23913001 PMID:23913004 |
|
NCBI chr 3:53,432,189...53,751,347
Ensembl chr 3:54,495,952...54,970,444
|
|
G |
CTNNB1 |
catenin beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10223192 PMID:10965019 |
|
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
|
|
G |
CYP1B1 |
cytochrome P450 family 1 subfamily B member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11376689 |
|
NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824
|
|
G |
EFEMP1 |
EGF containing fibulin extracellular matrix protein 1 |
|
ISO |
protein:decreased expression: : |
RGD |
PMID:24080855 |
RGD:10401654 |
NCBI chr2A:56,017,678...56,076,059
Ensembl chr2A:57,155,000...57,212,500
|
|
G |
ESR2 |
estrogen receptor 2 |
|
ISO |
ratio with Esr1;mRNA:decreased expression:thyroid gland (human) |
RGD |
PMID:11721176 |
RGD:8694118 |
NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
|
|
G |
GJA1 |
gap junction protein alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16926031 |
|
NCBI chr 6:119,213,513...119,227,617
|
|
G |
GJB1 |
gap junction protein beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16926031 |
|
NCBI chr X:60,490,579...60,492,606
Ensembl chr X:70,547,110...70,547,961
|
|
G |
IGF1 |
insulin like growth factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1611713 |
|
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
|
|
G |
INS |
insulin |
|
ISO |
protein:increased secretion:serum |
RGD |
PMID:12917331 |
RGD:2317273 |
NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
|
|
G |
KCNJ5 |
potassium inwardly rectifying channel subfamily J member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23913001 PMID:23913004 |
|
NCBI chr11:123,705,361...123,735,370
Ensembl chr11:127,606,208...127,634,213
|
|
G |
KLF5 |
KLF transcription factor 5 |
|
ISO |
|
RGD |
PMID:14726538 |
RGD:1304288 |
|
|
G |
KRAS |
KRAS proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8761429 PMID:10545420 PMID:10813127 PMID:25851810 |
|
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
|
|
G |
LOC103785028 |
polycomb protein SUZ12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25119042 |
|
NCBI chr17:24,790,921...24,853,790
|
|
G |
MEN1 |
menin 1 |
|
ISO |
DNA:deletion:exons |
RGD |
PMID:12917331 |
RGD:2317273 |
NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164
|
|
G |
MTRR |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17389618 |
|
NCBI chr 5:8,195,868...8,228,071
Ensembl chr 5:8,017,403...8,049,322
|
|
G |
MUC2 |
mucin 2, oligomeric mucus/gel-forming |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12468628 |
|
NCBI chr11:1,106,716...1,144,489
Ensembl chr11:1,143,625...1,169,741
|
|
G |
NCAM1 |
neural cell adhesion molecule 1 |
|
ISO |
protein:increased expression:gallbladder |
RGD |
PMID:15100237 |
RGD:2326070 |
NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401
|
|
G |
NF1 |
neurofibromin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25119042 |
|
NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295
|
|
G |
PRL |
prolactin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2274009 PMID:12058109 |
|
NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829
|
|
G |
PTMA |
prothymosin alpha |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:10822126 |
|
NCBI chr2B:118,959,382...118,964,364
|
|
G |
SELENOP |
selenoprotein P |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18483336 |
|
NCBI chr 5:67,570,087...67,582,192
Ensembl chr 5:72,619,607...72,627,213
|
|
G |
SLC19A1 |
solute carrier family 19 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16963246 |
|
NCBI chr21:31,836,774...31,883,829
Ensembl chr21:45,090,595...45,134,752
|
|
G |
TCN2 |
transcobalamin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17389618 |
|
NCBI chr22:11,635,107...11,655,137
Ensembl chr22:29,435,517...29,455,494
|
|
G |
TP53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21946351 |
|
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
|
|
G |
TP73 |
tumor protein p73 |
|
ISO |
DNA:hypermethylation:promoter: (human) |
RGD |
PMID:29945573 |
RGD:151347590 |
NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206
|
|
G |
TRPM7 |
transient receptor potential cation channel subfamily M member 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17823441 |
|
NCBI chr15:29,513,220...29,639,506
Ensembl chr15:47,853,187...47,977,451
|
|
G |
TSHR |
thyroid stimulating hormone receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8413627 |
|
NCBI chr14:61,517,767...61,708,241
Ensembl chr14:80,718,433...80,905,890
|
|
G |
TXNRD1 |
thioredoxin reductase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18483336 |
|
NCBI chr12:101,862,703...101,925,104
Ensembl chr12:105,187,128...105,321,112
|
|
G |
VHL |
von Hippel-Lindau tumor suppressor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16061637 |
|
NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234
|
|
|
G |
TRAF7 |
TNF receptor associated factor 7 |
|
ISO |
DNA:missense mutations:multiple |
RGD |
PMID:29148537 |
RGD:151356962 |
NCBI chr16:1,013,831...1,036,486
Ensembl chr16:2,266,194...2,279,031
|
|
|
G |
ALX4 |
ALX homeobox 4 |
severity |
ISO |
DNA:altered methylation:plasma: |
RGD |
PMID:20140221 |
RGD:153344541 |
NCBI chr11:44,219,865...44,269,597
|
|
G |
APC |
APC regulator of WNT signaling pathway |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12810952 |
|
NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
|
|
G |
CDX2 |
caudal type homeobox 2 |
|
ISO |
|
RGD |
PMID:9052785 |
RGD:734757 |
NCBI chr13:9,241,856...9,250,297
Ensembl chr13:27,586,340...27,593,632
|
|
G |
LOC100991118 |
defensin alpha 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15844706 |
|
NCBI chr 8:264,298...265,962
|
|
G |
SEPTIN9 |
septin 9 |
severity |
ISO |
DNA:altered methylation:plasma: |
RGD |
PMID:20140221 |
RGD:153344541 |
NCBI chr17:71,361,002...71,580,995
Ensembl chr17:76,920,236...77,139,586
|
|
G |
SMO |
smoothened, frizzled class receptor |
|
ISO |
|
RGD |
PMID:19427313 |
RGD:150340551 |
NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048
|
|
|
G |
DDR2 |
discoidin domain receptor tyrosine kinase 2 |
disease_progression |
ISO |
|
RGD |
PMID:29043607 |
RGD:150429712 |
NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766
|
|
G |
IFITM1 |
interferon induced transmembrane protein 1 |
disease_progression |
ISO |
|
RGD |
PMID:29043607 |
RGD:150429712 |
NCBI chr11:309,930...311,177
Ensembl chr11:353,236...354,986
|
|
|
G |
TTR |
transthyretin |
|
ISO |
protein:increased expression:lung (human) |
RGD |
PMID:26943652 |
RGD:151665207 |
NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960
|
|
|
G |
ATP1A1 |
ATPase Na+/K+ transporting subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma |
ClinVar |
PMID:23416519 |
|
NCBI chr 1:86,162,401...86,193,883
Ensembl chr 1:121,212,488...121,243,099
|
|
G |
ATP2B3 |
ATPase plasma membrane Ca2+ transporting 3 |
|
ISO |
ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma |
ClinVar |
PMID:23416519 |
|
NCBI chr X:143,068,171...143,133,479
Ensembl chr X:152,955,109...153,019,445
|
|
G |
CYP11B1 |
cytochrome P450 family 11 subfamily B member 1 |
|
ISO |
mRNA:decreased expression:adrenal gland (human) |
RGD |
PMID:12457455 |
RGD:4891170 |
NCBI chr 8:139,584,976...139,592,466
Ensembl chr 8:142,629,127...142,634,654
|
|
G |
CYP11B2 |
cytochrome P450 family 11 subfamily B member 2 |
|
ISO |
mRNA:increased expression:adrenal gland (human) |
RGD |
PMID:12457455 |
RGD:4891170 |
NCBI chr 8:139,622,632...139,630,014
Ensembl chr 8:142,666,534...142,672,575
|
|
G |
MEN1 |
menin 1 |
|
ISO |
ClinVar Annotator: match by term: Adrenocortical adenoma |
ClinVar |
PMID:10647896 |
|
NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164
|
|
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 chr19:13,657,344...13,683,864
Ensembl chr19:14,385,191...14,406,205
|
|
G |
PRKACB |
protein kinase cAMP-activated catalytic subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29669941 |
|
NCBI chr 1:116,625,640...116,786,396
Ensembl chr 1:85,487,681...85,644,253
|
|
|
G |
ADH1B |
alcohol dehydrogenase 1B (class I), beta polypeptide |
|
ISO |
ClinVar Annotator: match by term: Aerodigestive tract cancer, squamous cell, alcohol-related, protection against |
ClinVar |
PMID:2398055 PMID:2547609 PMID:6374651 PMID:10697413 PMID:12050823 |
|
NCBI chr 4:91,726,870...91,741,824
Ensembl chr 4:102,388,575...102,435,079
|
|
|
G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859340 |
|
NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
|
|
G |
SMO |
smoothened, frizzled class receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859340 |
|
NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048
|
|
|
G |
GLA |
galactosidase alpha |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19925601 |
|
NCBI chr X:90,600,412...90,610,594
Ensembl chr X:100,732,311...100,742,280
|
|
G |
NAGA |
alpha-N-acetylgalactosaminidase |
|
ISO |
Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W |
RGD |
PMID:8040340 |
RGD:1600558 |
NCBI chr22:22,951,723...22,964,278
Ensembl chr22:41,035,622...41,046,431
|
|
|
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 7:84,243,929...84,399,358
Ensembl chr 7:97,841,233...97,995,816
|
|
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 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895
|
|
|
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:17932460 PMID:19265534 |
RGD:8657154 RGD:8657155 |
NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335
|
|
G |
PTEN |
phosphatase and tensin homolog |
|
ISO |
protein:increased expression:kidney (human) |
RGD |
PMID:22737271 |
RGD:12802360 |
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
|
|
G |
STAT1 |
signal transducer and activator of transcription 1 |
|
ISO |
protein:increased serine phosphorylation:kidney |
RGD |
PMID:15994429 |
RGD:2298537 |
NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280
|
|
G |
STAT3 |
signal transducer and activator of transcription 3 |
|
ISO |
protein:increased tyrosine phosphorylation:kidney |
RGD |
PMID:15994429 |
RGD:2298537 |
NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
|
|
G |
TSC2 |
TSC complex subunit 2 |
|
ISO |
associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney |
RGD |
PMID:19265534 |
RGD:8657154 |
NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
|
|
|
G |
CCL20 |
C-C motif chemokine ligand 20 |
|
ISO |
protein:decreased expression:skin |
RGD |
PMID:17545018 |
RGD:7483603 |
NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
|
|
G |
CD8A |
CD8 subunit alpha |
|
ISO |
mRNA:decreased expression:zone of skin (human) |
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr2A:86,832,559...86,855,772
Ensembl chr2A:88,377,722...88,382,635
|
|
G |
CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
|
|
G |
FOXP3 |
forkhead box P3 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029
|
|
G |
IFNA6 |
interferon alpha 6 |
treatment |
ISO |
|
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr 9:21,211,046...21,211,734
Ensembl chr 9:21,828,719...21,829,288
|
|
G |
IL10 |
interleukin 10 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
|
|
G |
IL12B |
interleukin 12B |
treatment |
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:16114559 PMID:23754510 |
RGD:40400714 RGD:7829774 |
NCBI chr 5:154,706,467...154,722,231
Ensembl chr 5:161,325,303...161,335,381
|
|
G |
IL2 |
interleukin 2 |
|
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
|
|
G |
IL21 |
interleukin 21 |
|
ISO |
protein:decreased expression:blood serum (human) |
RGD |
PMID:31414711 |
RGD:127285371 |
NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
|
|
G |
IL4 |
interleukin 4 |
treatment |
ISO |
protein:increased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:16114559 PMID:23754510 |
RGD:40400714 RGD:7829774 |
NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
|
|
G |
IL6 |
interleukin 6 |
|
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 7:23,415,922...23,420,767
|
|
G |
KLRK1 |
killer cell lectin like receptor K1 |
|
ISO |
mRNA,protein:decreased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr12:10,411,932...10,429,256
Ensembl chr12:10,662,424...10,699,078
|
|
G |
MAPK8 |
mitogen-activated protein kinase 8 |
treatment |
ISO |
mRNA:increased expression:zone of skin (human) |
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr10:45,806,748...45,936,362
|
|
G |
MYD88 |
MYD88 innate immune signal transduction adaptor |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572
|
|
G |
NCR1 |
natural cytotoxicity triggering receptor 1 |
|
ISO |
mRNA,protein:decreased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274
|
|
G |
PDCD1 |
programmed cell death 1 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr12:130,849,353...130,858,776
|
|
G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
|
ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
|
|
G |
PTPN6 |
protein tyrosine phosphatase non-receptor type 6 |
|
ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chr12:7,075,879...7,093,041
Ensembl chr12:6,991,099...7,008,830
|
|
G |
SERPINF1 |
serpin family F member 1 |
disease_progression |
ISO |
mRNA, protein:decreased expression:skin of body (human) |
RGD |
PMID:23569025 |
RGD:27226706 |
NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
|
|
G |
TGFB1 |
transforming growth factor beta 1 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
|
|
G |
TLR2 |
toll like receptor 2 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
|
|
G |
TLR3 |
toll like receptor 3 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728
|
|
G |
TLR4 |
toll like receptor 4 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
|
|
G |
TLR7 |
toll like receptor 7 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:5,479,247...5,504,810
Ensembl chr X:12,767,981...12,790,517
|
|
G |
TLR8 |
toll like receptor 8 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:5,518,742...5,535,304
|
|
G |
TNF |
tumor necrosis factor |
|
ISO |
protein:increased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
|
|
G |
TNFRSF18 |
TNF receptor superfamily member 18 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
|
|
|
G |
ACE |
angiotensin I converting enzyme |
treatment |
ISO |
protein:increased activity:heart left ventricle (rat) |
RGD |
PMID:8386093 PMID:22768235 |
RGD:12859285 RGD:12880017 |
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
|
|
G |
ACKR1 |
atypical chemokine receptor 1 (Duffy blood group) |
|
ISO |
|
RGD |
PMID:24429330 |
RGD:9681736 |
NCBI chr 1:134,554,406...134,557,386
Ensembl chr 1:138,352,086...138,354,733
|
|
G |
ANGPT2 |
angiopoietin 2 |
|
ISO |
mRNA:increased expression:lung (rat) |
RGD |
PMID:18692629 |
RGD:2314184 |
NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915
|
|
G |
ARRB1 |
arrestin beta 1 |
|
ISO |
mRNA, protein:altered expression:left ventricle (rat) |
RGD |
PMID:22015551 |
RGD:5509867 |
NCBI chr11:70,319,935...70,411,276
Ensembl chr11:73,630,276...73,654,155
|
|
G |
ARRB2 |
arrestin beta 2 |
|
ISO |
mRNA, protein:altered expression:left ventricle (rat) |
RGD |
PMID:22015551 |
RGD:5509867 |
NCBI chr17:4,766,616...4,777,253
Ensembl chr17:4,757,048...4,767,517
|
|
G |
COL1A1 |
collagen type I alpha 1 chain |
|
ISO |
in Long Evans rats;mRNA:increased expression:aorta |
RGD |
PMID:16428894 |
RGD:8552771 |
NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
|
|
G |
DES |
desmin |
|
ISO |
|
RGD |
PMID:10591032 |
RGD:13525010 |
NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604
|
|
G |
FGF2 |
fibroblast growth factor 2 |
|
ISO |
|
RGD |
PMID:10541235 |
RGD:8655590 |
NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
|
|
G |
MMP2 |
matrix metallopeptidase 2 |
treatment |
ISO |
protein:increased expression:ileal vein |
RGD |
PMID:17398390 PMID:23924957 |
RGD:13204800 RGD:1642040 |
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
|
|
G |
MMP9 |
matrix metallopeptidase 9 |
treatment |
ISO |
|
RGD |
PMID:17398390 PMID:23924957 |
RGD:13204800 RGD:1642040 |
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
|
|
G |
NOS3 |
nitric oxide synthase 3 |
|
ISO |
protein:increased expression:vena cava |
RGD |
PMID:17344190 |
RGD:2292146 |
NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
|
|
G |
RBP4 |
retinol binding protein 4 |
exacerbates |
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:33556944 |
RGD:329845868 |
NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887
|
|
G |
TIMP4 |
TIMP metallopeptidase inhibitor 4 |
|
ISO |
protein:decreased expression:ileal vein |
RGD |
PMID:17398390 |
RGD:1642040 |
NCBI chr 3:12,079,195...12,087,485
Ensembl chr 3:12,425,429...12,433,192
|
|
G |
VEGFA |
vascular endothelial growth factor A |
|
ISO |
protein:increased expression:brain cortex, brain dura mater: |
RGD |
PMID:10541235 PMID:24626343 |
RGD:8551823 RGD:8655590 |
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
|
|
|
G |
ACVRL1 |
activin A receptor like type 1 |
|
ISO |
|
RGD |
PMID:11062473 |
RGD:1300250 |
NCBI chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691
|
|
G |
ENG |
endoglin |
susceptibility |
ISO |
associated with Telangiectasia, Hereditary Hemorrhagic; |
RGD |
PMID:8728706 PMID:24520391 |
RGD:11041184 RGD:11041564 |
NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
|
|
G |
EPHB4 |
EPH receptor B4 |
|
ISO |
ClinVar Annotator: match by term: Arteriovenous malformation |
ClinVar |
PMID:25741868 PMID:28687708 PMID:30578106 PMID:30760892 |
|
NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022
|
|
G |
GLMN |
glomulin, FKBP associated protein |
|
ISO |
glomuvenous malformations |
RGD |
PMID:11845407 |
RGD:1598992 |
NCBI chr 1:94,907,342...94,963,052
Ensembl chr 1:93,646,499...93,701,430
|
|
G |
MAP2 |
microtubule associated protein 2 |
|
ISO |
protein:decreased expression:hippocampus |
RGD |
PMID:20873448 |
RGD:6483324 |
NCBI chr2B:96,681,268...96,991,650
Ensembl chr2B:215,314,857...215,391,728
|
|
G |
MMP9 |
matrix metallopeptidase 9 |
|
ISO |
|
RGD |
PMID:16720380 |
RGD:1582655 |
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
|
|
G |
RASA1 |
RAS p21 protein activator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:14639529 PMID:15917201 |
RGD:1581296 |
NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321
|
|
G |
TEK |
TEK receptor tyrosine kinase |
susceptibility |
ISO |
DNA:missense mutation: :p.R849W |
RGD |
PMID:8980225 |
RGD:1578533 |
NCBI chr 9:26,955,339...27,077,809
Ensembl chr 9:27,561,421...27,683,572
|
|
|
G |
ACVRL1 |
activin A receptor like type 1 |
|
ISO |
OMIM:108010 |
MouseDO |
|
|
NCBI chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691
|
|
G |
ADGRV1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:24,208,844...24,811,284
Ensembl chr 5:24,341,808...24,945,477
|
|
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:31779674 PMID:31891627 PMID:34476331 More...
|
|
NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
|
|
G |
CACNA1H |
calcium voltage-gated channel subunit alpha1 H |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 PMID:28492532 |
|
Ensembl chr16:1,195,364...1,222,917
|
|
G |
CDH2 |
cadherin 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr18:21,210,001...21,435,919
Ensembl chr18:24,812,019...25,008,325
|
|
G |
EGFR |
epidermal growth factor receptor |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
|
|
G |
ENG |
endoglin |
disease_progression |
ISO |
DNA:polymorphism: : 207G>A(human) ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
RGD ClinVar |
PMID:15879500 PMID:24876084 PMID:25741868 PMID:28492532 PMID:30120215 |
RGD:11041171 |
NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
|
|
G |
FLT1 |
fms related receptor tyrosine kinase 1 |
|
ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr13:9,584,850...9,779,542
|
|
G |
GLI2 |
GLI family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain |
ClinVar |
PMID:25741868 |
|
NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442
|
|
G |
IL17RD |
interleukin 17 receptor D |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901 |
|
NCBI chr 3:57,023,622...57,098,869
Ensembl chr 3:58,240,835...58,309,409
|
|
G |
IL6 |
interleukin 6 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
|
|
NCBI chr 7:23,415,922...23,420,767
|
|
G |
KDR |
kinase insert domain receptor |
|
ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
|
|
G |
KRAS |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain |
OMIM ClinVar |
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID: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:22722830 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23255105 PMID:23325582 PMID:23406027 PMID:24033266 PMID:24138715 PMID:24803665 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25741868 PMID:26372703 PMID:26619011 PMID:28492532 PMID:29298116 PMID:29948256 PMID:30443000 PMID:31891627 More...
|
|
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
|
|
G |
LEMD3 |
LEM domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr12:23,668,368...23,747,369
Ensembl chr12:24,172,749...24,252,314
|
|
G |
MAP4K4 |
mitogen-activated protein kinase kinase kinase kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
Ensembl chr2A:102,750,221...102,945,263
|
|
G |
NOTCH4 |
notch receptor 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 PMID:27231971 |
|
NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978
|
|
G |
PDCD10 |
programmed cell death 10 |
|
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...
|
|
NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430
|
|
G |
PITPNM3 |
PITPNM family member 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr17:6,492,567...6,595,645
Ensembl chr17:6,481,590...6,584,379
|
|
G |
PREX2 |
phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:64,489,817...64,769,602
Ensembl chr 8:66,215,974...66,430,138
|
|
G |
SARS1 |
seryl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:111,590,850...111,615,068
Ensembl chr 1:110,755,054...110,779,704
|
|
G |
SCUBE2 |
signal peptide, CUB domain and EGF like domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr11:9,146,533...9,219,816
Ensembl chr11:8,888,668...8,959,677
|
|
G |
SYN3 |
synapsin III |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr22:13,517,932...14,069,661
Ensembl chr22:31,373,604...31,866,798
|
|
G |
TIMP3 |
TIMP metallopeptidase inhibitor 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964
|
|
G |
VEGFA |
vascular endothelial growth factor A |
|
ISO |
|
RGD |
PMID:16388189 |
RGD:1580567 |
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
|
|
G |
ZFYVE16 |
zinc finger FYVE-type containing 16 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:34,837,410...34,910,416
Ensembl chr 5:35,111,723...35,183,028
|
|
|
G |
APC |
APC regulator of WNT signaling pathway |
|
ISO |
ClinVar Annotator: match by term: Brain tumor-polyposis syndrome 2 |
ClinVar |
PMID:1316610 PMID:1324223 PMID:7661930 PMID:8990002 PMID:9950360 PMID:11317365 PMID:15108288 PMID:17963004 PMID:20223039 PMID:20685668 PMID:25741868 PMID:28492532 PMID:28944238 PMID:31062380 More...
|
|
NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
|
|
G |
GALNT12 |
polypeptide N-acetylgalactosaminyltransferase 12 |
|
ISO |
ClinVar Annotator: match by term: Adenomatous polyposis coli, attenuated |
ClinVar |
PMID:19617566 PMID:20551049 PMID:22461326 PMID:24038392 PMID:24357849 PMID:25741868 PMID:26467025 PMID:26845104 PMID:27153395 PMID:28492532 PMID:28944238 PMID:29095867 PMID:29596542 PMID:29749045 PMID:31548401 PMID:33193653 More...
|
|
NCBI chr 9:69,897,793...69,940,252
Ensembl chr 9:98,017,161...98,058,135
|
|
|
G |
APC |
APC regulator of WNT signaling pathway |
|
ISO |
ClinVar Annotator: match by term: Attenuated familial adenomatous polyposis |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
|
|
|
G |
EGFR |
epidermal growth factor receptor |
|
ISO |
ClinVar Annotator: match by term: Cowden syndrome 1 |
ClinVar |
|
|
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
|
|
G |
KLLN |
killin, p53 regulated DNA replication inhibitor |
|
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...
|
|
NCBI chr10:84,581,971...84,587,420
|
|
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:29446767 PMID:34496175 More...
|
|
NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
|
|
G |
PTEN |
phosphatase and tensin homolog |
|
ISO |
ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 |
OMIM ClinVar |
PMID:1097835 PMID:1336932 PMID:1945792 PMID:2333580 PMID:2338203 PMID:7728760 PMID:8071972 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:9685848 PMID:9735393 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:10698513 PMID:10698713 PMID:10749983 PMID:10772390 PMID:10772829 PMID:10777358 PMID:10848731 PMID:10866302 PMID:10866658 PMID:10920277 PMID:10923032 PMID:10978354 PMID:11035045 PMID:11051241 PMID:11052475 PMID:11071384 PMID:11156408 PMID:11234884 PMID:11238682 PMID:11274365 PMID:11332402 PMID:11448956 PMID:11476841 PMID:11504908 PMID:11668501 PMID:11685670 PMID:11748304 PMID:11875759 PMID:11886535 PMID:11918710 PMID:11948419 PMID:12015762 PMID:12075083 PMID:12085208 PMID:12208743 PMID:12297295 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:15355975 PMID:15372512 PMID:15492994 PMID:15531530 PMID:15647370 PMID:15659546 PMID:15805158 PMID:16007494 PMID:16014636 PMID:16021145 PMID:16199547 PMID:16506206 PMID:16619501 PMID:16704655 PMID:16752378 PMID:16773562 PMID:16894538 PMID:16952599 PMID:17043057 PMID:17167516 PMID:17213812 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:17941496 PMID:17942903 PMID:17954274 PMID:18025323 PMID:18080326 PMID:18558293 PMID:18594467 PMID:18626099 PMID:18725974 PMID:18757403 PMID:18767981 PMID:18781614 PMID:18986487 PMID:19190598 PMID:19265751 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19457929 PMID:19458356 PMID:19622968 PMID:19829307 PMID:19903786 PMID:19968660 PMID:20018398 PMID:20049735 PMID:20085938 PMID:20194734 PMID:20223021 PMID:20300775 PMID:20301661 PMID:20453058 PMID:20533527 PMID:20600018 PMID:20619739 PMID:20685300 PMID:20712882 PMID:20718038 PMID:20785012 PMID:20881644 PMID:20926450 PMID:20962022 PMID:21103832 PMID:21190448 PMID:21194675 PMID:21291452 PMID:21333374 PMID:21343951 PMID:21417916 PMID:21475810 PMID:21532617 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:21869887 PMID:21956414 PMID:22005521 PMID:22076652 PMID:22162582 PMID:22162589 PMID:22261759 PMID:22266152 PMID:22281088 PMID:22320991 PMID:22327138 PMID:22371648 PMID:22381246 PMID:22413754 PMID:22469695 PMID:22479427 PMID:22491738 PMID:22503188 PMID:22505997 PMID:22520842 PMID:22536362 PMID:22558107 PMID:22595938 PMID:22628360 PMID:22703879 PMID:22911484 PMID:22962422 PMID:22970944 PMID:23066114 PMID:23117110 PMID:23160955 PMID:23161105 PMID:23315997 PMID:23335809 PMID:23349303 PMID:23361946 PMID:23382303 PMID:23399955 PMID:23423780 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23555315 PMID:23613428 PMID:23633456 PMID:23695273 PMID:23757202 PMID:23764071 PMID:23825907 PMID:23886400 PMID:23930209 PMID:23934111 PMID:23934601 PMID:24022303 PMID:24033266 PMID:24052722 PMID:24055113 PMID:24099866 PMID:24123798 PMID:24136893 PMID:24292679 PMID:24345843 PMID:24375884 PMID:24379037 PMID:24404930 PMID:24468202 PMID:24498881 PMID:24721394 PMID:24728327 PMID:24744697 PMID:24763289 PMID:24766807 PMID:24778394 PMID:24901346 PMID:24905788 PMID:25132236 PMID:25148578 PMID:25157968 PMID:25186627 PMID:25288137 PMID:25326635 PMID:25336918 PMID:25418537 PMID:25437057 PMID:25448482 PMID:25525159 PMID:25527629 PMID:25549896 PMID:25647146 PMID:25669429 PMID:25722288 PMID:25741868 PMID:25756585 PMID:25875300 PMID:25910213 PMID:25980754 PMID:26076150 PMID:26082588 PMID:26099045 PMID:26124082 PMID:26157835 PMID:26229595 PMID:26246517 PMID:26302789 PMID:26376867 PMID:26418532 PMID:26467025 PMID:26468640 PMID:26492180 PMID:26504226 PMID:26517354 PMID:26534844 PMID:26572169 PMID:26579216 PMID:26580448 PMID:26619011 PMID:26633542 PMID:26637798 PMID:26665196 PMID:26681312 PMID:26773036 PMID:26787237 PMID:26795104 PMID:26798346 PMID:26800850 PMID:26845104 PMID:26898890 PMID:26919320 PMID:27157322 PMID:27324988 PMID:27405757 PMID:27426521 PMID:27428751 PMID:27477328 PMID:27481051 PMID:27489861 PMID:27514801 PMID:27531073 PMID:27535533 PMID:27829222 PMID:27878467 PMID:27884173 PMID:27959697 PMID:27978560 PMID:28008555 PMID:28013114 PMID:28086757 PMID:28135145 PMID:28235761 PMID:28251007 PMID:28263302 PMID:28263967 PMID:28286253 PMID:28418444 PMID:28475857 PMID:28492532 PMID:28497778 PMID:28523199 PMID:28526761 PMID:28600779 PMID:28655553 PMID:28677221 PMID:28724667 PMID:28774669 PMID:28873162 PMID:29043291 PMID:29273943 PMID:29282348 PMID:29296277 PMID:29359449 PMID:29371908 PMID:29373119 PMID:29444762 PMID:29496690 PMID:29510612 PMID:29594054 PMID:29608813 PMID:29663862 PMID:29706350 PMID:29706633 PMID:29706646 PMID:29720545 PMID:29752200 PMID:29758562 PMID:29785012 PMID:29806868 PMID:29874181 PMID:29927861 PMID:29931205 PMID:29970488 PMID:30181857 PMID:30287823 PMID:30311369 PMID:30311380 PMID:30327747 PMID:30443844 PMID:30482242 PMID:30528446 PMID:30614812 PMID:30659124 PMID:30720243 PMID:30809968 PMID:31006514 PMID:31079897 PMID:31144778 PMID:31149344 PMID:31159747 PMID:31199785 PMID:31209962 PMID:31220904 PMID:31336731 PMID:31567591 PMID:31594918 PMID:31664961 PMID:31970404 PMID:32003824 PMID:32123317 PMID:32150788 PMID:32162695 PMID:32185379 PMID:32190315 PMID:32196895 PMID:32238909 PMID:32295079 PMID:32350270 PMID:32366478 PMID:32378608 PMID:32442409 PMID:32461083 PMID:32461654 PMID:32664367 PMID:32670512 PMID:32832836 PMID:32885271 PMID:33077954 PMID:33083010 PMID:33088792 PMID:33372952 PMID:33471991 PMID:33482532 PMID:33600059 PMID:33723755 PMID:33876391 PMID:33887726 PMID:34184188 PMID:34268892 PMID:34308366 PMID:34386506 PMID:34518631 PMID:34625746 PMID:34906515 PMID:35227301 PMID:35241692 PMID:35264596 PMID:35931053 PMID:36988593 PMID:37090027 PMID:37819013 More...
|
|
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
|
|
G |
SDHB |
succinate dehydrogenase complex iron sulfur subunit B |
|
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...
|
|
NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509
|
|
|
G |
PTCH1 |
patched 1 |
|
ISO |
DNA:missense mutations, nonsense mutations |
RGD |
PMID:25395299 |
RGD:150523793 |
NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
|
|
|
G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
DNA:missense mutation:cds:p.V600E (human) |
RGD |
PMID:25704541 |
RGD:11521169 |
NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
|
|
|
G |
PTEN |
phosphatase and tensin homolog |
disease_progression |
ISO |
associated with schistosomiasis;protein:decreased expression:urothelium (human) |
RGD |
PMID:26916953 |
RGD:127285612 |
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
|
|
|
G |
CCND1 |
cyclin D1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29103775 |
|
NCBI chr11:64,737,006...64,750,353
|
|
G |
CCNE1 |
cyclin E1 |
|
ISO |
associated with Vulvar Neoplasms;mRNA:increased expression:vulva |
RGD |
PMID:17471573 |
RGD:2289255 |
NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295
|
|
G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
|
ISO |
protein:increased expression:skin: |
RGD |
PMID:10583111 |
RGD:8662826 |
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
|
|
G |
NRF1 |
nuclear respiratory factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21514422 |
|
NCBI chr 7:121,574,061...121,719,604
Ensembl chr 7:134,113,482...134,240,158
|
|
G |
PPARGC1A |
PPARG coactivator 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21514422 |
|
NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
|
|
G |
TFAM |
transcription factor A, mitochondrial |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21514422 |
|
NCBI chr10:54,917,578...54,934,124
Ensembl chr10:57,138,437...57,147,972
|
|
|
G |
BIRC2 |
baculoviral IAP repeat containing 2 |
|
ISO |
mRNA:increased expression:perianal skin (human) |
RGD |
PMID:20346172 |
RGD:152998971 |
NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421
|
|
G |
BIRC3 |
baculoviral IAP repeat containing 3 |
|
ISO |
mRNA:increased expression:perianal skin (human) |
RGD |
PMID:20346172 |
RGD:152998971 |
NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194
|
|
|
G |
WNT7B |
Wnt family member 7B |
|
ISO |
mRNA:increased expression:tumor:increased in 10% of malignant neoplasms vs normal tissue and fibroadenomas |
RGD |
PMID:8168088 |
RGD:2291878 |
Ensembl chr22:44,988,647...45,044,841
|
|
|
G |
SASH1 |
SAM and SH3 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma |
OMIM ClinVar |
PMID:25315659 PMID:25741868 |
|
NCBI chr 6:146,154,178...146,368,101
Ensembl chr 6:150,863,677...151,075,816
|
|
|
G |
AKT3 |
AKT serine/threonine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Capillary hemangioma |
ClinVar |
PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 PMID:28969385 PMID:29286531 PMID:29758562 PMID:33176815 More...
|
|
NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838
|
|
G |
CCN1 |
cellular communication network factor 1 |
disease_progression |
ISO |
mRNA:increased expression:skin (human) |
RGD |
PMID:33587560 |
RGD:329845523 |
NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147
|
|
G |
NPC1 |
NPC intracellular cholesterol transporter 1 |
|
ISO |
ClinVar Annotator: match by term: Capillary hemangioma |
ClinVar |
PMID:25741868 |
|
NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623
|
|
|
G |
CCNH |
cyclin H |
|
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:25326637 PMID:25741868 PMID:26499346 PMID:27081547 PMID:27535533 PMID:28295764 PMID:28492532 PMID:28655553 PMID:29024832 PMID:29120072 PMID:29891884 PMID:30026675 PMID:30120215 PMID:35209959 More...
|
|
NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149
|
|
G |
EPHB4 |
EPH receptor B4 |
|
ISO |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022
|
|
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 |
RGD ClinVar |
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:25326637 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:30026675 PMID:30120215 PMID:35209959 More...
|
RGD:734495 |
NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321
|
|
G |
STAMBP |
STAM binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23542699 |
|
NCBI chr2A:73,900,128...73,936,571
Ensembl chr2A:75,410,434...75,451,086
|
|
|
G |
CCNH |
cyclin H |
|
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:25326637 PMID:25741868 PMID:26499346 PMID:27081547 PMID:27535533 PMID:28492532 PMID:28655553 PMID:29891884 More...
|
|
NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149
|
|
G |
KRAS |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 |
ClinVar |
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 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...
|
|
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
|
|
G |
RASA1 |
RAS p21 protein activator 1 |
|
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:25326637 PMID:25741868 PMID:26499346 PMID:27081547 PMID:27535533 PMID:28492532 PMID:28655553 PMID:29891884 More...
|
|
NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321
|
|
|
G |
EPHB4 |
EPH receptor B4 |
|
ISO |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 | ClinVar Annotator: match by term: EPHB4-related condition | ClinVar Annotator: match by term: EPHB4-related disorders |
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 PMID:32267001 PMID:33240318 More...
|
|
NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022
|
|
G |
SLC12A9 |
solute carrier family 12 member 9 |
|
ISO |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28687708 |
|
NCBI chr 7:92,877,655...92,891,957
Ensembl chr 7:106,288,530...106,294,968 Ensembl chr 7:106,288,530...106,294,968
|
|
|
G |
SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
|
ISO |
ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar Annotator: match by term: Carney triad |
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:26467025 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:32782288 PMID:33077847 PMID:33372952 PMID:33674644 PMID:33960148 PMID:35059314 PMID:35441217 More...
|
|
|
|
G |
SDHB |
succinate dehydrogenase complex iron sulfur subunit B |
|
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...
|
|
NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509
|
|
G |
SDHC |
succinate dehydrogenase complex subunit C |
|
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:25787132 PMID:26173966 PMID:28492532 More...
|
|
NCBI chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736
|
|
|
G |
CCM2 |
CCM2 scaffold protein |
|
ISO |
ClinVar Annotator: match by term: Cavernous hemangioma |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828
|
|
G |
KRIT1 |
KRIT1 ankyrin repeat containing |
|
ISO |
ClinVar Annotator: match by term: Cavernous hemangioma |
ClinVar |
PMID:10508515 PMID:10545614 PMID:11222804 PMID:12404106 PMID:23595507 PMID:24466005 PMID:24689081 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895
|
|
G |
PDCD10 |
programmed cell death 10 |
|
ISO |
ClinVar Annotator: match by term: Cavernous hemangioma |
ClinVar |
PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430
|
|
|
G |
CCNH |
cyclin H |
|
ISO |
ClinVar Annotator: match by term: Cerebral venous angioma |
ClinVar |
PMID:23650393 PMID:25741868 PMID:31680349 |
|
NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149
|
|
G |
RASA1 |
RAS p21 protein activator 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral venous angioma |
ClinVar |
PMID:23650393 PMID:25741868 PMID:31680349 |
|
NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321
|
|
|
G |
VHL |
von Hippel-Lindau tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Cerebellar hemangioblastoma |
ClinVar |
PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 PMID:22799452 PMID:23384228 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234
|
|
|
G |
AKAP9 |
A-kinase anchoring protein 9 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
|
|
NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608
|
|
G |
ANKIB1 |
ankyrin repeat and IBR domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:84,243,929...84,399,358
Ensembl chr 7:97,841,233...97,995,816
|
|
G |
CCM2 |
CCM2 scaffold protein |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:25525273 PMID:25741868 PMID:28492532 |
|
NCBI chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828
|
|
G |
CYP51A1 |
cytochrome P450 family 51 subfamily A member 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
|
|
NCBI chr 7:84,110,130...84,132,870
Ensembl chr 7:97,708,806...97,729,824
|
|
G |
FLT1 |
fms related receptor tyrosine kinase 1 |
|
ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr13:9,584,850...9,779,542
|
|
G |
KDR |
kinase insert domain receptor |
|
ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
|
|
G |
KRIT1 |
KRIT1 ankyrin repeat containing |
susceptibility |
ISO |
ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation |
RGD ClinVar |
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:27790124 PMID:27792856 PMID:28000143 PMID:28492532 PMID:28645800 PMID:28745674 PMID:28867399 PMID:29593473 PMID:30161288 PMID:31124307 PMID:31254430 PMID:33651268 PMID:33891857 PMID:33911302 PMID:34558799 PMID:34634677 PMID:34964173 More...
|
RGD:1598379 |
NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895
|
|
G |
LRRD1 |
leucine rich repeats and death domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
|
|
NCBI chr 7:84,142,698...84,176,943
Ensembl chr 7:97,738,096...97,774,111
|
|
G |
NOTCH3 |
notch receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
|
|
G |
PDCD10 |
programmed cell death 10 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 PMID:23801932 PMID:25741868 PMID:26896283 PMID:28492532 More...
|
|
NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430
|
|
G |
PON1 |
paraoxonase 1 |
susceptibility |
ISO |
DNA:missense mutations:cds:p.L55M, p.Q192R (human) |
RGD |
PMID:26122242 |
RGD:11552573 |
NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
|
|
G |
PTEN |
phosphatase and tensin homolog |
|
ISO |
protein:decreased expression:brain (human) |
RGD |
PMID:19061355 |
RGD:12859036 |
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
|
|
G |
SERPINI1 |
serpin family I member 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
|
|
NCBI chr 3:164,755,803...164,845,572
Ensembl chr 3:172,865,891...172,902,372
|
|
|
G |
KRIT1 |
KRIT1 ankyrin repeat containing |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 1 | ClinVar Annotator: match by term: Cerebral cavernous malformations 1 | ClinVar Annotator: match by term: KRIT1-Related Disorders |
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:24007869 PMID:24401931 PMID:24689081 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29593473 More...
|
|
NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895
|
|
G |
PDCD10 |
programmed cell death 10 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430
|
|
G |
PTGIS |
prostaglandin I2 synthase |
exacerbates |
ISO |
DNA:silent mutation:CDS:p.L256L (rs5628) (human) |
RGD |
PMID:26795600 |
RGD:401960081 |
NCBI chr20:45,841,238...45,905,641
Ensembl chr20:46,905,665...46,971,612
|
|
|
G |
CCM2 |
CCM2 scaffold protein |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 |
OMIM ClinVar |
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...
|
|
NCBI chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828
|
|
G |
NACAD |
NAC alpha domain containing |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 |
ClinVar |
PMID:17160895 PMID:28492532 |
|
NCBI chr 7:45,794,340...45,802,532
|
|
|
G |
PDCD10 |
programmed cell death 10 |
onset exacerbates |
ISO |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3 |
OMIM RGD ClinVar |
PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:17041941 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 More...
|
RGD:401827114 RGD:401827115 |
NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430
|
|
G |
SERPINI1 |
serpin family I member 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 |
ClinVar |
|
|
NCBI chr 3:164,755,803...164,845,572
Ensembl chr 3:172,865,891...172,902,372
|
|
|
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 |
|
NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
|
|
|
G |
GNA14 |
G protein subunit alpha 14 |
|
ISO |
ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome |
ClinVar |
|
|
NCBI chr 9:47,196,338...47,423,388
|
|
|
G |
ADAR |
adenosine deaminase RNA specific |
disease_progression |
ISO |
protein:increased expression:cervix squamous epithelium (human) |
RGD |
PMID:28109322 |
RGD:125097518 |
NCBI chr 1:129,937,993...129,983,747
|
|
G |
BAX |
BCL2 associated X, apoptosis regulator |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:17694953 |
RGD:1643352 |
NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
|
|
G |
BIRC2 |
baculoviral IAP repeat containing 2 |
disease_progression |
ISO |
DNA, protein:amplification, increased expression:uterine cervix, nucleus |
RGD |
PMID:12208731 |
RGD:1643529 |
NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421
|
|
G |
BRIP1 |
BRCA1 interacting helicase 1 |
severity |
ISO |
mRNA, protein:increased expression:uterine cervix, nucleus (human) |
RGD |
PMID:24708616 |
RGD:11252104 |
NCBI chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462
|
|
G |
CCL22 |
C-C motif chemokine ligand 22 |
severity |
ISO |
|
RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chr16:37,631,861...37,640,208
Ensembl chr16:56,765,367...56,771,213
|
|
G |
CCR4 |
C-C motif chemokine receptor 4 |
severity |
ISO |
|
RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chr 3:32,882,419...32,887,442
Ensembl chr 3:33,188,482...33,189,564
|
|
G |
CD82 |
CD82 molecule |
|
ISO |
protein:decreased expression:uterine cervix |
RGD |
PMID:15642213 |
RGD:2289399 |
NCBI chr11:44,526,010...44,581,560
Ensembl chr11:45,020,319...45,075,876
|
|
G |
CSF1R |
colony stimulating factor 1 receptor |
|
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:18565574 |
RGD:2299119 |
NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415
|
|
G |
FGF7 |
fibroblast growth factor 7 |
|
ISO |
cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells |
RGD |
PMID:17306351 |
RGD:2289084 |
NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163
|
|
G |
FGFR3 |
fibroblast growth factor receptor 3 |
no_association |
ISO |
DNA:missense mutation:cds: p.S249G (human) |
RGD |
PMID:11605053 |
RGD:38500202 |
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
|
|
G |
FOS |
Fos proto-oncogene, AP-1 transcription factor subunit |
disease_progression |
ISO |
protein:increased expression:uterine cervix |
RGD |
PMID:15514944 |
RGD:2293757 |
NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766
|
|
G |
FOSL1 |
FOS like 1, AP-1 transcription factor subunit |
|
ISO |
protein:decreased expression:uterine cervix |
RGD |
PMID:15514944 |
RGD:2293757 |
NCBI chr11:61,252,513...61,261,032
Ensembl chr11:64,581,841...64,589,304
|
|
G |
FOXP3 |
forkhead box P3 |
severity |
ISO |
|
RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029
|
|
G |
PDPN |
podoplanin |
disease_progression |
ISO |
|
RGD |
PMID:16528371 |
RGD:2292237 |
NCBI chr 1:12,728,569...12,759,781
Ensembl chr 1:13,728,233...13,759,584
|
|
G |
SMAD3 |
SMAD family member 3 |
severity |
ISO |
|
RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185
|
|
G |
TIMP2 |
TIMP metallopeptidase inhibitor 2 |
|
ISO |
protein:decreased expression:uterine cervix |
RGD |
PMID:16619570 |
RGD:2290402 |
NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649
|
|
G |
TMBIM6 |
transmembrane BAX inhibitor motif containing 6 |
disease_progression |
ISO |
mRNA:increased expression:uterine cervix |
RGD |
PMID:15337562 |
RGD:2291959 |
NCBI chr12:38,986,844...39,010,307
Ensembl chr12:39,879,951...39,902,303
|
|
G |
TNFRSF4 |
TNF receptor superfamily member 4 |
severity |
ISO |
|
RGD |
PMID:28086903 |
RGD:38455996 |
Ensembl chr 1:1,168,935...1,171,337
|
|
G |
TNFSF4 |
TNF superfamily member 4 |
severity |
ISO |
|
RGD |
PMID:28086903 |
RGD:38455996 |
NCBI chr 1:148,684,689...148,989,775
Ensembl chr 1:152,391,450...152,415,845 Ensembl chr 1:152,391,450...152,415,845
|
|
G |
TP53 |
tumor protein p53 |
disease_progression |
ISO |
|
RGD |
PMID:17969407 |
RGD:2298526 |
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
|
|
G |
TYMP |
thymidine phosphorylase |
disease_progression |
ISO |
|
RGD |
PMID:16803522 |
RGD:2293719 |
NCBI chr22:30,772,088...30,776,618
|
|
|
G |
MAPK1 |
mitogen-activated protein kinase 1 |
|
ISO |
protein:increased expression:brain: |
RGD |
PMID:21466243 |
RGD:13702864 |
NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
|
|
|
G |
LOC100988671 |
histone H3.3A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24162739 |
|
NCBI chr17:69,728,165...69,730,519
Ensembl chr17:75,277,614...75,281,106
|
|
|
G |
MYL3 |
myosin light chain 3 |
|
ISO |
ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type |
ClinVar |
|
|
NCBI chr 3:46,758,058...46,782,425
Ensembl chr 3:47,859,467...47,865,084
|
|
G |
PTH1R |
parathyroid hormone 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type |
OMIM 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...
|
|
NCBI chr 3:46,777,945...46,804,039
Ensembl chr 3:47,894,901...47,905,431
|
|
|
G |
IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22057234 PMID:25895133 |
|
NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175
|
|
G |
IDH2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22057234 PMID:25895133 |
|
NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
|
|
G |
IHH |
Indian hedgehog signaling molecule |
|
ISO |
|
RGD |
PMID:26091072 |
RGD:12910968 |
NCBI chr2B:106,312,472...106,319,124
Ensembl chr2B:224,906,271...224,911,506
|
|
G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
|
ISO |
DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X (human) |
RGD |
PMID:20577567 |
RGD:11069623 |
NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
|
|
G |
SMO |
smoothened, frizzled class receptor |
treatment |
ISO |
|
RGD |
PMID:26091072 |
RGD:12910968 |
NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048
|
|
|
G |
TP53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Choroid plexus papilloma | ClinVar Annotator: match by term: Papilloma of choroid plexus |
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:9704930 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:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21118481 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:22822097 PMID:22869713 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22923379 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23484829 PMID:23538418 PMID:23624782 PMID:23630318 PMID:23792586 PMID:23887774 PMID:24033266 PMID:24065105 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:25059482 PMID:25157968 PMID:25256166 PMID:25404506 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:27189670 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:28279309 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28873162 PMID:28975465 PMID:29070607 PMID:29478780 PMID:29489754 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30816478 PMID:31105275 PMID:31742824 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32156018 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32888145 PMID:32906206 PMID:33087929 PMID:33163847 PMID:33245408 PMID:33372952 PMID:33471991 PMID:33840814 PMID:34299313 PMID:34529667 PMID:34709361 PMID:35974385 PMID:36329109 PMID:36988593 More...
|
|
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
|
|
|
G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
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:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 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:22120714 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729224 PMID:22949682 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:29446767 PMID:29988677 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 PMID:37712948 More...
|
|
NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
|
|
|
G |
GNA11 |
G protein subunit alpha 11 |
|
ISO |
ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi |
ClinVar |
PMID:25741868 PMID:27476652 |
|
NCBI chr19:2,120,398...2,149,161
Ensembl chr19:3,074,483...3,102,124
|
|
G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: CLOVE 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 |
OMIM ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 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:22120714 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 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:29446767 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 PMID:37712948 More...
|
|
NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
|
|
G |
PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: CLOVES syndrome |
ClinVar |
PMID:25741868 PMID:34040190 |
|
NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960
|
|
|
G |
AXIN2 |
axin 2 |
|
ISO |
protein:increased expression:: |
RGD |
PMID:11809809 |
RGD:151356508 |
NCBI chr17:59,476,336...59,509,358
Ensembl chr17:64,688,416...64,720,086
|
|
G |
CACNA1D |
calcium voltage-gated channel subunit alpha1 D |
|
ISO |
protein:increased expression:colon (human) |
RGD |
PMID:29079724 |
RGD:152177516 |
NCBI chr 3:53,432,189...53,751,347
Ensembl chr 3:54,495,952...54,970,444
|
|
G |
CCND1 |
cyclin D1 |
severity |
ISO |
|
RGD |
PMID:11375949 |
RGD:151665121 |
NCBI chr11:64,737,006...64,750,353
|
|
G |
CCND2 |
cyclin D2 |
severity |
ISO |
|
RGD |
PMID:11375949 |
RGD:151665121 |
NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551
|
|
G |
CHKA |
choline kinase alpha |
|
ISO |
protein:increased expression:colonic mucosa (human) |
RGD |
PMID:10363580 |
RGD:10401945 |
NCBI chr11:63,134,776...63,202,516
Ensembl chr11:66,444,406...66,510,221
|
|
G |
IGF2BP1 |
insulin like growth factor 2 mRNA binding protein 1 |
|
ISO |
|
RGD |
PMID:26194191 |
RGD:11086893 |
NCBI chr17:8,479,806...8,538,336
Ensembl chr17:8,468,240...8,519,552
|
|
G |
RAC1 |
Rac family small GTPase 1 |
|
ISO |
|
RGD |
PMID:12865273 |
RGD:13432048 |
NCBI chr 7:7,039,379...7,068,866
|
|
G |
RBP4 |
retinol binding protein 4 |
|
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:25712946 |
RGD:329849123 |
NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887
|
|
G |
TET2 |
tet methylcytosine dioxygenase 2 |
|
ISO |
mRNA:decreased expression:colon (human) |
RGD |
PMID:29875879 |
RGD:150429665 |
NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400
|
|
|
G |
APC |
APC regulator of WNT signaling pathway |
|
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...
|
|
NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
|
|
G |
BIRC7 |
baculoviral IAP repeat containing 7 |
|
ISO |
|
RGD |
PMID:21122381 |
RGD:13217408 |
NCBI chr20:59,618,530...59,623,612
Ensembl chr20:61,157,302...61,161,932
|
|
G |
CYP24A1 |
cytochrome P450 family 24 subfamily A member 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 chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716
|
|
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 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
|
|
G |
F5 |
coagulation factor V |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:30971492 |
RGD:40907058 |
NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915
|
|
G |
FOS |
Fos proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
|
RGD |
PMID:8264230 |
RGD:13210753 |
NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766
|
|
G |
GPX2 |
glutathione peroxidase 2 |
|
ISO |
mRNA:increased expression:colorectum (human) |
RGD |
PMID:30469315 |
RGD:151665806 |
NCBI chr14:45,522,558...45,526,678
|
|
G |
GPX3 |
glutathione peroxidase 3 |
|
ISO |
mRNA:decreased expression:colorectum (human) |
RGD |
PMID:30469315 |
RGD:151665806 |
NCBI chr 5:146,447,939...146,456,476
|
|
G |
GSTM1 |
glutathione S-transferase mu 1 |
susceptibility |
ISO |
DNA:deletion:cds (human) |
RGD |
PMID:20375710 |
RGD:7495820 |
Ensembl chr 1:127,979,238...128,010,411
|
|
G |
GSTP1 |
glutathione S-transferase pi 1 |
|
ISO |
DNA:SNP: :p.A114V (human) |
RGD |
PMID:20375710 |
RGD:7495820 |
NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
|
|
G |
JUN |
Jun proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
|
RGD |
PMID:8264230 |
RGD:13210753 |
NCBI chr 1:58,042,794...58,045,536
|
|
G |
MAP2K4 |
mitogen-activated protein kinase kinase 4 |
|
ISO |
protein:decreased expression:colorectum (human) |
RGD |
PMID:28423721 |
RGD:150429743 |
NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909
|
|
G |
MAPK8 |
mitogen-activated protein kinase 8 |
|
ISO |
|
RGD |
PMID:21122381 PMID:23082052 |
RGD:13217408 RGD:13217413 |
NCBI chr10:45,806,748...45,936,362
|
|
G |
MYD88 |
MYD88 innate immune signal transduction adaptor |
ameliorates |
ISO |
|
RGD |
PMID:30063920 |
RGD:150519915 |
NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572
|
|
G |
PTCH1 |
patched 1 |
|
ISO |
|
RGD |
PMID:24612059 |
RGD:150523840 |
NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
|
|
G |
PTGIS |
prostaglandin I2 synthase |
susceptibility |
ISO |
DNA:repeats:promoter: |
RGD |
PMID:16537708 |
RGD:151347835 |
NCBI chr20:45,841,238...45,905,641
Ensembl chr20:46,905,665...46,971,612
|
|
G |
RAF1 |
Raf-1 proto-oncogene, serine/threonine kinase |
|
ISO |
|
RGD |
PMID:21122381 |
RGD:13217408 |
NCBI chr 3:12,510,084...12,590,598
Ensembl chr 3:12,853,415...12,932,871
|
|
G |
SELENOH |
selenoprotein H |
|
ISO |
mRNA:increased expression:colorectum (human) |
RGD |
PMID:30469315 |
RGD:151665806 |
NCBI chr11:52,980,128...52,981,759
Ensembl chr11:56,450,023...56,450,642
|
|
G |
SELENOP |
selenoprotein P |
|
ISO |
mRNA:decreased expression:colorectum (human) |
RGD |
PMID:30469315 |
RGD:151665806 |
NCBI chr 5:67,570,087...67,582,192
Ensembl chr 5:72,619,607...72,627,213
|
|
G |
SELENOS |
selenoprotein S |
|
ISO |
mRNA:decreased expression:colorectum (human) |
RGD |
PMID:30469315 |
RGD:151665806 |
NCBI chr15:79,995,678...80,002,159
Ensembl chr15:99,279,203...99,285,682
|
|
G |
SEPHS2 |
selenophosphate synthetase 2 |
|
ISO |
mRNA:decreased expression:colorectum (human) |
RGD |
PMID:30469315 |
RGD:151665806 |
NCBI chr16:24,523,111...24,525,390
|
|
G |
SMAD4 |
SMAD family member 4 |
|
ISO |
mRNA:increased expression:mucosa |
RGD |
PMID:11480790 |
RGD:21066339 |
NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
|
|
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 3:47,487,948...47,683,623
Ensembl chr 3:48,590,221...48,781,248
|
|
G |
TNFRSF1A |
TNF receptor superfamily member 1A |
|
ISO |
protein:increased expression:serum, colorectal mucosa, epithelial cell |
RGD |
PMID:23082052 |
RGD:13217413 |
NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
|
|
G |
TTR |
transthyretin |
|
ISO |
protein:decreased expression:blood serum (human) protein:decreased expression:colorectum (human) |
RGD |
PMID:21136704 PMID:33739034 |
RGD:151660505 RGD:151664608 |
NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960
|
|
G |
TXNRD3 |
thioredoxin reductase 3 |
|
ISO |
mRNA:increased expression:colorectum (human) |
RGD |
PMID:30469315 |
RGD:151665806 |
NCBI chr 3:123,644,679...123,697,563
Ensembl chr 3:130,967,026...131,013,667
|
|
|
G |
PCSK7 |
proprotein convertase subtilisin/kexin type 7 |
|
ISO |
ClinVar Annotator: match by term: Corpus callosum lipoma |
ClinVar |
PMID:25741868 |
|
NCBI chr11:112,035,502...112,066,170
Ensembl chr11:115,972,414...115,999,748
|
|
|
G |
LOC100995352 |
keratin-associated protein 10-2 |
|
ISO |
protein:increased expression:pancreas |
RGD |
PMID:19077459 |
RGD:2325696 |
|
|
|
G |
FOXO3 |
forkhead box O3 |
|
ISO |
OMIM:166950 |
MouseDO |
|
|
NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272
|
|
|
G |
TMC6 |
transmembrane channel like 6 |
|
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis |
ClinVar |
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36268689 More...
|
|
NCBI chr17:72,183,937...72,205,550
Ensembl chr17:77,742,467...77,757,482
|
|
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:17368633 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr17:72,204,802...72,218,105
Ensembl chr17:77,759,805...77,771,013
|
|
G |
TNRC6C |
trinucleotide repeat containing adaptor 6C |
|
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
|
NCBI chr17:72,035,737...72,185,489
Ensembl chr17:77,633,564...77,738,511
|
|
|
G |
TMC6 |
transmembrane channel like 6 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 | ClinVar Annotator: match by term: TMC6-related condition |
ClinVar OMIM |
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36268689 More...
|
|
NCBI chr17:72,183,937...72,205,550
Ensembl chr17:77,742,467...77,757,482
|
|
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...
|
|
NCBI chr17:72,204,802...72,218,105
Ensembl chr17:77,759,805...77,771,013
|
|
|
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 chr17:72,183,937...72,205,550
Ensembl chr17:77,742,467...77,757,482
|
|
G |
TMC8 |
transmembrane channel like 8 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 |
ClinVar OMIM |
PMID:9536098 PMID:10084299 PMID:12426567 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28646613 More...
|
|
NCBI chr17:72,204,802...72,218,105
Ensembl chr17:77,759,805...77,771,013
|
|
|
G |
CIB1 |
calcium and integrin binding 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3 |
ClinVar OMIM |
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28492532 PMID:28646613 PMID:30068544 More...
|
|
NCBI chr15:68,919,377...68,923,213
|
|
|
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 |
|
NCBI chr 4:34,517,487...34,569,934
Ensembl chr 4:40,419,549...40,420,124
|
|
|
G |
IL7 |
interleukin 7 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 |
OMIM ClinVar |
PMID:25981006 |
|
NCBI chr 8:75,254,166...75,337,373
Ensembl chr 8:76,895,095...76,966,918
|
|
|
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...
|
|
NCBI chr17:16,461,624...16,466,136
Ensembl chr17:16,686,898...16,690,415
|
|
G |
LOC100993221 |
transmembrane protein 99 (putative) |
|
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...
|
|
NCBI chr17:16,447,929...16,465,165
|
|
|
G |
LOC100972354 |
interferon alpha-2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15982392 |
|
NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736
|
|
|
G |
COL4A5 |
collagen type IV alpha 5 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17069596 |
|
NCBI chr X:97,538,978...97,797,019
Ensembl chr X:108,008,689...108,166,095
|
|
G |
COL4A6 |
collagen type IV alpha 6 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17069596 |
|
NCBI chr X:97,254,306...97,539,473
Ensembl chr X:107,625,718...107,908,363
|
|
|
G |
ABCC2 |
ATP binding cassette subfamily C member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21206495 |
|
NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270
|
|
G |
ADCYAP1 |
adenylate cyclase activating polypeptide 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr18:13,414,618...13,421,668
Ensembl chr18:15,713,479...15,717,749
|
|
G |
ADH1B |
alcohol dehydrogenase 1B (class I), beta polypeptide |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22960999 |
|
NCBI chr 4:91,726,870...91,741,824
Ensembl chr 4:102,388,575...102,435,079
|
|
G |
AJUBA |
ajuba LIM protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr14:3,791,309...3,802,763
Ensembl chr14:21,889,443...21,900,700
|
|
G |
AKT1 |
AKT serine/threonine kinase 1 |
disease_progression |
ISO |
protein:increased expression:esophagus (human) |
RGD |
PMID:32642408 |
RGD:152995512 |
NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
|
|
G |
ALDH2 |
aldehyde dehydrogenase 2 family member |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16639733 PMID:22960999 |
|
NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471
|
|
G |
ANXA1 |
annexin A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779
|
|
G |
ATM |
ATM serine/threonine kinase |
disease_progression |
ISO |
Smoke Inhalation Injury; mRNA:increased expression:esophagus (human) |
RGD |
PMID:17019709 |
RGD:150340713 |
NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
|
|
G |
ATP1B2 |
ATPase Na+/K+ transporting subunit beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25129146 |
|
NCBI chr17:7,681,831...7,688,710
Ensembl chr17:7,669,626...7,673,834
|
|
G |
AXIN1 |
axin 1 |
disease_progression |
ISO |
protein:decreased expression:esophagus (human) |
RGD |
PMID:12771989 |
RGD:150530473 |
Ensembl chr16:278,239...337,891
|
|
G |
AZIN1 |
antizyme inhibitor 1 |
|
ISO |
|
RGD |
PMID:24302582 |
RGD:14700707 |
NCBI chr 8:99,483,027...99,521,151
Ensembl chr 8:101,639,950...101,678,604
|
|
G |
B2M |
beta-2-microglobulin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991
|
|
G |
BLVRB |
biliverdin reductase B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr19:37,496,344...37,516,127
Ensembl chr19:46,007,321...46,025,120
|
|
G |
BMI1 |
BMI1 proto-oncogene, polycomb ring finger |
|
ISO |
|
RGD |
PMID:21165554 |
RGD:126781701 |
NCBI chr10:22,477,755...22,487,894
Ensembl chr10:22,857,776...22,863,479
|
|
G |
BMP6 |
bone morphogenetic protein 6 |
|
ISO |
protein:increased expression:esophagus |
RGD |
PMID:22364398 |
RGD:7242413 |
NCBI chr 6:7,564,164...7,720,341
Ensembl chr 6:7,848,249...8,000,649
|
|
G |
BRCA1 |
BRCA1 DNA repair associated |
|
ISO |
DNA:SNP: :rs799917 (human) |
RGD |
PMID:23749772 |
RGD:126925960 |
NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
|
|
G |
BRCA2 |
BRCA2 DNA repair associated |
|
ISO |
DNA:nonsense mutation: :p.K3326X (human) |
RGD |
PMID:21279724 |
RGD:11344913 |
NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
|
|
G |
BST2 |
bone marrow stromal cell antigen 2 |
disease_progression |
ISO |
|
RGD |
PMID:26832883 |
RGD:14398496 |
NCBI chr19:16,890,257...16,892,989
Ensembl chr19:17,863,991...17,866,728
|
|
G |
BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18691855 |
|
NCBI chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648
|
|
G |
CA1 |
carbonic anhydrase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 8:81,854,390...81,905,728
Ensembl chr 8:83,463,434...83,526,899
|
|
G |
CA12 |
carbonic anhydrase 12 |
severity |
ISO |
|
RGD |
PMID:26316888 |
RGD:155226859 |
NCBI chr15:42,270,188...42,328,952
Ensembl chr15:60,565,592...60,624,008
|
|
G |
CA2 |
carbonic anhydrase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 8:81,991,037...82,009,010
Ensembl chr 8:83,597,440...83,632,580
|
|
G |
CALR |
calreticulin |
ameliorates |
ISO |
CTD Direct Evidence: marker/mechanism human cells in a mouse model |
CTD RGD |
PMID:19684620 PMID:21517111 PMID:23814025 |
RGD:150521679 RGD:150521703 |
NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416
|
|
G |
CAPZA1 |
capping actin protein of muscle Z-line subunit alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 1:115,273,497...115,324,353
Ensembl chr 1:125,028,519...125,078,892
|
|
G |
CASP8 |
caspase 8 |
exacerbates |
ISO |
mRNA,protein:decreased expression:esophagus squamous epithelium (human) |
RGD |
PMID:31885720 |
RGD:153300949 |
NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
|
|
G |
CBX8 |
chromobox 8 |
severity |
ISO |
mRNA:increased expression:esophagus: |
RGD |
PMID:25197352 |
RGD:9587436 |
NCBI chr17:73,874,618...73,877,347
Ensembl chr17:79,410,967...79,413,691
|
|
G |
CCHCR1 |
coiled-coil alpha-helical rod protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29379198 |
|
NCBI chr 6:30,888,542...30,904,382
Ensembl chr 6:31,753,777...31,772,934
|
|
G |
CCND1 |
cyclin D1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr11:64,737,006...64,750,353
|
|
G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15375580 |
|
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
|
|
G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 9:21,803,862...21,831,322
|
|
G |
CDKN2B |
cyclin dependent kinase inhibitor 2B |
|
ISO |
DNA:SNPs: :rs615552, rs573687 (human) |
RGD |
PMID:23361049 |
RGD:7248756 |
NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156
|
|
G |
CFL1 |
cofilin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr11:61,215,092...61,218,628
Ensembl chr11:64,544,275...64,550,806
|
|
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 chr15:57,493,730...57,530,463
Ensembl chr15:76,455,165...76,486,376
|
|
G |
CHRNB4 |
cholinergic receptor nicotinic beta 4 subunit |
|
ISO |
mRNA:increased expression:esophagus (human) |
RGD |
PMID:27610024 |
RGD:151361143 |
NCBI chr15:57,552,697...57,570,828
Ensembl chr15:76,515,455...76,532,712
|
|
G |
CLIC1 |
chloride intracellular channel 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 6:31,391,958...31,397,920
Ensembl chr 6:32,280,645...32,286,621
|
|
G |
CLPTM1L |
CLPTM1 like |
susceptibility no_association |
ISO |
DNA:SNP: :rs451360(human) mRNA:increased expression:esophagus DNA:SNP: :rs401681(human) |
RGD |
PMID:24386361 PMID:25007268 PMID:25480402 PMID:26716642 |
RGD:11572962 RGD:150530488 RGD:150530497 RGD:150537098 |
Ensembl chr 5:1,361,571...1,388,415
|
|
G |
COL14A1 |
collagen type XIV alpha 1 chain |
disease_progression |
ISO |
DNA:hypermethylation |
RGD |
PMID:25050929 |
RGD:151665741 |
NCBI chr 8:116,818,467...117,065,385
Ensembl chr 8:119,610,929...119,831,880
|
|
G |
CRABP1 |
cellular retinoic acid binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17438526 |
|
NCBI chr15:57,269,794...57,277,697
Ensembl chr15:76,234,401...76,242,311
|
|
G |
CREBBP |
CREB binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
|
|
G |
CSF1R |
colony stimulating factor 1 receptor |
|
ISO |
mRNA:decreased expression:esophagus squamous epithelium (human) |
RGD |
PMID:32038997 |
RGD:150524298 |
NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415
|
|
G |
CSTB |
cystatin B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr21:30,030,359...30,032,899
|
|
G |
CTNNB1 |
catenin beta 1 |
|
ISO |
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma |
ClinVar |
PMID:25157968 PMID:25741868 PMID:26619011 |
|
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
|
|
G |
CXCL8 |
C-X-C motif chemokine ligand 8 |
severity |
ISO |
mRNA:increased expression:esophagus (human) |
RGD |
PMID:31423201 |
RGD:150520019 |
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
|
|
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 chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647
|
|
G |
CYP1A1 |
cytochrome P450 family 1 subfamily A member 1 |
|
ISO |
|
RGD |
PMID:11860825 |
RGD:14700943 |
NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
|
|
G |
CYP1B1 |
cytochrome P450 family 1 subfamily B member 1 |
|
ISO |
protein:increased expression:esophagus (rat) |
RGD |
PMID:18618592 |
RGD:7829715 |
NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824
|
|
G |
CYP24A1 |
cytochrome P450 family 24 subfamily A member 1 |
susceptibility |
ISO |
DNA:SNP:CDS: (rs2296241) (human) |
RGD |
PMID:28362172 |
RGD:151665500 |
NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716
|
|
G |
CYP26B1 |
cytochrome P450 family 26 subfamily B member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29379198 |
|
NCBI chr2A:72,172,658...72,191,410
Ensembl chr2A:73,670,830...73,686,433
|
|
G |
DAB2IP |
DAB2 interacting protein |
severity |
ISO |
protein:decreased expression:esophagus (human) |
RGD |
PMID:30464518 |
RGD:151665168 |
NCBI chr 9:92,696,798...92,912,425
Ensembl chr 9:121,143,457...121,254,336
|
|
G |
DCC |
DCC netrin 1 receptor |
|
ISO |
|
OMIM |
|
|
NCBI chr18:45,717,924...46,913,998
Ensembl chr18:49,268,812...50,255,155
|
|
G |
DIDO1 |
death inducer-obliterator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30431698 |
|
NCBI chr20:59,264,759...59,325,092
Ensembl chr20:60,556,923...60,617,265
|
|
G |
DNMT3B |
DNA methyltransferase 3 beta |
disease_progression |
ISO |
protein:increased expression:nucleus: |
RGD |
PMID:22213175 |
RGD:9589085 |
NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487
|
|
G |
DPP4 |
dipeptidyl peptidase 4 |
|
ISO |
protein:increased expression: esophagus |
RGD |
PMID:24789592 |
RGD:152600903 |
NCBI chr2B:49,285,685...49,368,056
Ensembl chr2B:166,654,659...166,736,588
|
|
G |
EFNB2 |
ephrin B2 |
severity ameliorates exacerbates |
ISO |
mRNA:increased expression:esophagus squamous epithelium (human) human cells in mouse model mRNA,protein:increased expression:esophagus squamous epithelium (human) |
RGD |
PMID:17611172 PMID:29190834 PMID:31885720 |
RGD:153300947 RGD:153300948 RGD:153300949 |
NCBI chr13:87,629,831...87,675,652
Ensembl chr13:106,770,296...106,815,548
|
|
G |
EGFR |
epidermal growth factor receptor |
severity |
ISO |
protein:increased expression:esophagus (human) ClinVar Annotator: match by term: Esophageal squamous cell carcinoma |
RGD ClinVar |
PMID:10385363 PMID:23485129 PMID:25157968 |
RGD:5131486 |
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
|
|
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 9:108,724,568...108,951,077
Ensembl chr 9:137,764,950...137,895,564
|
|
G |
EHMT2 |
euchromatic histone lysine methyltransferase 2 |
disease_progression |
ISO |
protein:increased expression:esophagus mucosa: |
RGD |
PMID:24805087 |
RGD:9590071 |
NCBI chr 6:31,542,946...31,560,894
Ensembl chr 6:32,429,271...32,451,844
|
|
G |
EP300 |
E1A binding protein p300 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17965222 PMID:25151357 |
|
NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
|
|
G |
EPB41L3 |
erythrocyte membrane protein band 4.1 like 3 |
disease_progression |
ISO |
DNA:hypermethylation |
RGD |
PMID:25050929 |
RGD:151665741 |
NCBI chr18:8,656,684...8,894,170
Ensembl chr18:10,993,680...11,210,416
|
|
G |
EPHB4 |
EPH receptor B4 |
exacerbates |
ISO |
mRNA,protein:increased expression:esophagus squamous epithelium (human) |
RGD |
PMID:31885720 |
RGD:153300949 |
NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022
|
|
G |
ERBB4 |
erb-b2 receptor tyrosine kinase 4 |
disease_progression susceptibility |
ISO |
protein:altered localization:nucleus DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human) |
RGD |
PMID:18000820 PMID:24916311 |
RGD:126781764 RGD:126781765 |
NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
|
|
G |
ERCC1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
treatment |
ISO |
|
RGD |
PMID:23263828 |
RGD:11252162 |
NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430
|
|
G |
EZH2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
disease_progression |
ISO |
|
RGD |
PMID:21165554 PMID:25613619 |
RGD:126781697 RGD:126781701 |
NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
|
|
G |
FANCA |
FA complementation group A |
|
ISO |
DNA:missense mutation: :p.S858R (human) |
RGD |
PMID:21279724 |
RGD:11344913 |
NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147
|
|
G |
FAP |
fibroblast activation protein alpha |
|
ISO |
protein:increased expression: esophagus |
RGD |
PMID:24789592 |
RGD:152600903 |
NCBI chr2B:49,464,199...49,537,284
Ensembl chr2B:166,832,963...166,904,950
|
|
G |
FASN |
fatty acid synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29379198 |
|
NCBI chr17:76,483,108...76,503,148
Ensembl chr17:82,187,516...82,205,647
|
|
G |
FAT1 |
FAT atypical cadherin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism protein:decreased expression:esophagus squamous epithelium (human) |
CTD RGD |
PMID:24590895 PMID:25151357 PMID:29365412 |
RGD:151347630 RGD:151347646 |
NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357
|
|
G |
FAT2 |
FAT atypical cadherin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 5:146,927,558...147,014,920
Ensembl chr 5:152,932,400...152,995,784
|
|
G |
FAT3 |
FAT atypical cadherin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr11:87,242,937...87,921,955
|
|
G |
FAT4 |
FAT atypical cadherin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407
|
|
G |
FBXW7 |
F-box and WD repeat domain containing 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
|
|
G |
FES |
FES proto-oncogene, tyrosine kinase |
exacerbates |
ISO |
DNA:hypermethylation: (human) |
RGD |
PMID:24936140 |
RGD:153323298 |
NCBI chr15:69,576,936...69,588,834
Ensembl chr15:88,774,965...88,786,965
|
|
G |
FGFR4 |
fibroblast growth factor receptor 4 |
treatment |
ISO |
|
RGD |
PMID:25989802 |
RGD:150520041 |
NCBI chr 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605
|
|
G |
FKBP1A |
FKBP prolyl isomerase 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr20:1,519,330...1,548,473
|
|
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 chr14:18,347,284...18,352,705
|
|
G |
FUBP1 |
far upstream element binding protein 1 |
exacerbates |
ISO |
mRNA:increased expression:esophagus (human) protein:increased expression:esophagus (human) |
RGD |
PMID:26490982 PMID:32481602 |
RGD:151361192 RGD:151361197 |
NCBI chr 1:77,162,675...77,198,486
|
|
G |
GDI2 |
GDP dissociation inhibitor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr10:5,806,336...5,854,676
Ensembl chr10:5,789,496...5,839,003
|
|
G |
GLO1 |
glyoxalase I |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 6:38,247,881...38,275,098
Ensembl chr 6:39,434,746...39,461,971
|
|
G |
GPX3 |
glutathione peroxidase 3 |
disease_progression |
ISO |
DNA:hypermethylation |
RGD |
PMID:25050929 PMID:30018730 |
RGD:151665494 RGD:151665741 |
NCBI chr 5:146,447,939...146,456,476
|
|
G |
GRB7 |
growth factor receptor bound protein 7 |
exacerbates |
ISO |
protein:increased expression:esophagus (human) mRNA:increased expression:esophagus mucosa (human) |
RGD |
PMID:10797316 PMID:26465158 |
RGD:151347654 RGD:151347661 |
NCBI chr17:17,541,771...17,551,049
Ensembl chr17:17,758,992...17,768,290
|
|
G |
GSTM1 |
glutathione S-transferase mu 1 |
no_association |
ISO |
|
RGD |
PMID:11860825 PMID:17916905 PMID:25432134 |
RGD:14700943 RGD:14700948 RGD:14700982 |
Ensembl chr 1:127,979,238...128,010,411
|
|
G |
GSTO1 |
glutathione S-transferase omega 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr10:100,853,682...100,866,892
Ensembl chr10:104,313,024...104,325,733
|
|
G |
GSTP1 |
glutathione S-transferase pi 1 |
|
ISO |
DNA:polymorphism: :p.I105V (human) |
RGD |
PMID:17916905 |
RGD:14700982 |
NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
|
|
G |
HIF1A |
hypoxia inducible factor 1 subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17201171 |
|
NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
|
|
G |
HMGB1 |
high mobility group box 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr13:11,737,942...11,894,923
Ensembl chr13:30,174,899...30,179,527
|
|
G |
HMGN5 |
high mobility group nucleosome binding domain 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28914995 |
|
NCBI chr X:70,180,585...70,268,545
|
|
G |
HOXB7 |
homeobox B7 |
severity |
ISO |
protein:increased expression:esophageal mucosa (human) |
RGD |
PMID:26076456 |
RGD:10402177 |
NCBI chr17:8,925,717...8,929,523
Ensembl chr17:9,110,864...9,114,639
|
|
G |
HSPA5 |
heat shock protein family A (Hsp70) member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 9:96,351,645...96,356,761
Ensembl chr 9:124,865,211...124,870,458
|
|
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 |
RGD:152975633 |
NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
|
|
G |
IDH2 |
isocitrate dehydrogenase (NADP(+)) 2 |
severity |
ISO |
human cells in mouse model |
RGD |
PMID:32367071 |
RGD:149735568 |
NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
|
|
G |
JAK2 |
Janus kinase 2 |
severity |
ISO |
protein:increased phosphorylation:esophagus squamous epithelium (human) |
RGD |
PMID:32158193 |
RGD:127285669 |
NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626
|
|
G |
JUNB |
JunB proto-oncogene, AP-1 transcription factor subunit |
exacerbates |
ISO |
protein:increased expression:esophagus (human) |
RGD |
PMID:19758438 PMID:30227324 |
RGD:151347669 RGD:151347672 |
NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974
|
|
G |
KAT2B |
lysine acetyltransferase 2B |
|
ISO |
mRNA:decreased expression:esophagus (human) |
RGD |
PMID:19525977 |
RGD:9590307 |
NCBI chr 3:19,956,067...20,070,637
Ensembl chr 3:20,286,865...20,400,770
|
|
G |
KDM4C |
lysine demethylase 4C |
severity susceptibility |
ISO |
protein:increased expression:esophageal epithelium, nucleus (human) DNA:snp:intron:IVS8-3292G>A (rs1340513) (human) |
RGD |
PMID:15805246 PMID:24224128 |
RGD:9587746 RGD:9587752 |
NCBI chr 9:6,568,569...6,978,741
Ensembl chr 9:6,746,265...7,155,298
|
|
G |
KDM5B |
lysine demethylase 5B |
severity |
ISO |
protein:increased expression:esophageal mucosa, cytoplasm (human) |
RGD |
PMID:22534467 |
RGD:9587776 |
NCBI chr 1:178,323,073...178,406,608
Ensembl chr 1:182,622,425...182,702,994
|
|
G |
KDM6A |
lysine demethylase 6A |
ameliorates |
ISO |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:esophagus (human) protein:increased expression:esophagus (human) DNA:mutations:multiple (human) |
CTD RGD |
PMID:25151357 PMID:29351209 PMID:31804468 |
RGD:150429739 RGD:150429742 RGD:9588233 |
NCBI chr X:37,313,000...37,548,630
Ensembl chr X:45,127,382...45,362,029
|
|
G |
KMT2C |
lysine methyltransferase 2C |
|
ISO |
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:25151357 |
RGD:9588233 |
NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043
|
|
G |
KMT2D |
lysine methyltransferase 2D |
|
ISO |
DNA:mutations:multiple (human) mRNA:increased expression:esophagus CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:25151357 PMID:29532228 |
RGD:150521712 RGD:9588233 |
NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
|
|
G |
KRT16 |
keratin 16 |
|
ISO |
|
RGD |
PMID:8950218 |
RGD:633113 |
NCBI chr17:15,704,348...15,707,328
Ensembl chr17:15,922,924...15,929,437
|
|
G |
KRT19 |
keratin 19 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr17:15,788,355...15,793,127
Ensembl chr17:16,006,608...16,010,782
|
|
G |
KRT7 |
keratin 7 |
disease_progression |
ISO |
|
RGD |
PMID:29788741 |
RGD:151665759 |
NCBI chr12:36,514,021...36,529,721
Ensembl chr12:37,291,244...37,307,341
|
|
G |
LOC100969764 |
sulfotransferase 1A1 |
|
ISO |
DNA:SNP:exon:p.R213H, 638G>A (human) |
RGD |
PMID:12455060 |
RGD:1581448 |
|
|
G |
LOC100975309 |
keratin, type I cytoskeletal 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16543248 |
|
NCBI chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191
|
|
G |
LOC100976433 |
keratin, type I cytoskeletal 17 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr17:15,692,319...15,697,455
Ensembl chr17:15,910,899...15,916,079
|
|
G |
LOC100977072 |
neuronal acetylcholine receptor subunit alpha-7 |
disease_progression exacerbates |
ISO |
mRNA:increased expression:esophagus (human) |
RGD |
PMID:27610024 PMID:33603170 |
RGD:151361143 RGD:151667905 |
NCBI chr15:10,525,535...10,667,227
Ensembl chr15:29,565,885...29,705,194
|
|
G |
LOC100977112 |
keratin, type I cytoskeletal 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr17:15,811,095...15,815,783
Ensembl chr17:16,028,747...16,033,434
|
|
G |
LOC100980965 |
zinc-alpha-2-glycoprotein |
disease_progression |
ISO |
|
RGD |
PMID:28053542 |
RGD:153350138 |
NCBI chr 7:91,999,717...92,009,066
Ensembl chr 7:105,432,782...105,442,219
|
|
G |
LOC100992963 |
tenascin-X |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29379198 |
|
NCBI chr 6:31,687,994...31,756,279
Ensembl chr 6:32,571,199...32,626,155
|
|
G |
LOXL2 |
lysyl oxidase like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24716982 |
|
NCBI chr 8:22,547,303...22,653,676
Ensembl chr 8:19,483,335...19,589,522
|
|
G |
LTA |
lymphotoxin alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29379198 |
|
NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
|
|
G |
LZTS1 |
leucine zipper tumor suppressor 1 |
|
ISO |
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic | ClinVar Annotator: match by term: LZTS1-related condition |
OMIM ClinVar |
PMID:10097140 PMID:25741868 PMID:26504261 PMID:28492532 |
|
NCBI chr 8:19,471,361...19,529,437
Ensembl chr 8:16,418,496...16,476,111
|
|
G |
MAD2L1 |
mitotic arrest deficient 2 like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18691855 |
|
NCBI chr 4:112,247,808...112,255,202
Ensembl chr 4:123,397,355...123,405,535
|
|
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 5:57,116,405...57,197,017
Ensembl chr 5:58,745,579...58,826,959
|
|
G |
MBD4 |
methyl-CpG binding domain 4, DNA glycosylase |
susceptibility |
ISO |
DNA:snp:intron:IVS5-140A>G (rs3138355) (human) DNA:snp:cds:p.E346K (rs140693) (human) |
RGD |
PMID:15205355 PMID:25162968 |
RGD:9588976 RGD:9588980 |
NCBI chr 3:126,489,125...126,498,034
Ensembl chr 3:133,839,643...133,851,450
|
|
G |
MGMT |
O-6-methylguanine-DNA methyltransferase |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism DNA, protein:hypermethylation, decreased expression:promoter, esophagus |
CTD RGD |
PMID:21674174 PMID:25520135 |
RGD:126790574 |
NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422
|
|
G |
MLH1 |
mutL homolog 1 |
disease_progression |
ISO |
DNA, protein:hypermethylation, decreased expression:promoter, esophagus |
RGD |
PMID:21674174 |
RGD:126790574 |
NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
|
|
G |
MMP14 |
matrix metallopeptidase 14 |
|
ISO |
protein:increased expression: esophagus |
RGD |
PMID:24789592 |
RGD:152600903 |
NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058
|
|
G |
MMP2 |
matrix metallopeptidase 2 |
|
ISO |
protein:increased activity: esophagus |
RGD |
PMID:24789592 |
RGD:152600903 |
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
|
|
G |
MMP9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased activity: esophagus |
RGD |
PMID:24789592 |
RGD:152600903 |
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
|
|
G |
MSH2 |
mutS homolog 2 |
disease_progression |
ISO |
DNA, protein:hypermethylation, decreased expression:esophagus DNA, protein:hypermethylation, decreased expression:promoter, esophagus |
RGD |
PMID:21674174 PMID:22265839 PMID:24366688 |
RGD:126790560 RGD:126790573 RGD:126790574 |
NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
|
|
G |
MT1X |
metallothionein 1X |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16543248 |
|
NCBI chr16:36,959,854...36,961,632
Ensembl chr16:56,092,218...56,093,976
|
|
G |
NFE2L2 |
NFE2 like bZIP transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
|
|
G |
NOTCH1 |
notch receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
|
|
G |
NOTCH2 |
notch receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840
|
|
G |
NOTCH3 |
notch receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
|
|
G |
PAGR1 |
PAXIP1 associated glutamate rich protein 1 |
|
ISO |
mRNA, protein:decreased expression:esophagus (human) |
RGD |
PMID:33833989 |
RGD:153344568 |
Ensembl chr16:30,186,326...30,190,654
|
|
G |
PBX3 |
PBX homeobox 3 |
|
ISO |
RNA:increased expression:esophagus squamous epithelium (human) |
RGD |
PMID:32449803 |
RGD:153345544 |
NCBI chr 9:96,867,140...97,089,205
Ensembl chr 9:125,379,489...125,598,178
|
|
G |
PFN1 |
profilin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr17:4,993,853...4,996,811
Ensembl chr17:4,981,765...4,985,022
|
|
G |
PLCE1 |
phospholipase C epsilon 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20729852 PMID:20729853 |
|
NCBI chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024
|
|
G |
PRDX1 |
peroxiredoxin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 1:44,813,508...44,824,430
Ensembl chr 1:46,171,453...46,182,018
|
|
G |
PSMB9 |
proteasome 20S subunit beta 9 |
disease_progression |
ISO |
|
RGD |
PMID:19492245 |
RGD:6482249 |
NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402
|
|
G |
PSME1 |
proteasome activator subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr14:4,912,390...4,915,219
Ensembl chr14:23,033,548...23,039,405
|
|
G |
PSME2 |
proteasome activator subunit 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr14:4,919,628...4,922,952
Ensembl chr14:23,043,807...23,047,296
|
|
G |
PTCH1 |
patched 1 |
disease_progression |
ISO |
|
RGD |
PMID:16475698 |
RGD:150523841 |
NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
|
|
G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15756444 PMID:16543248 PMID:18197933 |
|
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
|
|
G |
PTPRT |
protein tyrosine phosphatase receptor type T |
susceptibility |
ISO |
DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human) |
RGD |
PMID:25967969 |
RGD:150520191 |
NCBI chr20:38,399,267...39,526,776
Ensembl chr20:39,502,794...40,317,701
|
|
G |
RB1 |
RB transcriptional corepressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
|
NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
|
|
G |
RICTOR |
RPTOR independent companion of MTOR complex 2 |
severity disease_progression |
ISO |
protein:increased expression:esophagus (human) human cells in mouse model |
RGD |
PMID:28132115 PMID:30119206 PMID:32642408 |
RGD:152995460 RGD:152995470 RGD:152995512 |
NCBI chr 5:71,299,215...71,435,290
Ensembl chr 5:76,389,130...76,469,830
|
|
G |
RNF6 |
ring finger protein 6 |
|
ISO |
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic |
ClinVar OMIM |
PMID:12154016 |
|
NCBI chr13:7,505,669...7,515,542
Ensembl chr13:25,854,765...25,864,629
|
|
G |
RUNX2 |
RUNX family transcription factor 2 |
|
ISO |
mRNA:increased expression:esophagus mucosa |
RGD |
PMID:18500170 |
RGD:126779568 |
NCBI chr 6:45,003,962...45,133,148
Ensembl chr 6:46,189,432...46,524,389
|
|
G |
RUNX3 |
RUNX family transcription factor 3 |
disease_progression |
ISO |
mRNA:decreased expression:esophagus mucosa |
RGD |
PMID:18500170 |
RGD:126779568 |
NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335
|
|
G |
SALL4 |
spalt like transcription factor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30431698 |
|
NCBI chr20:48,130,387...48,150,569
Ensembl chr20:49,254,039...49,273,589
|
|
G |
SETD5 |
SET domain containing 5 |
disease_progression |
ISO |
|
RGD |
PMID:31981592 |
RGD:155804254 |
NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306
|
|
G |
SFN |
stratifin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 1:26,126,212...26,127,761
Ensembl chr 1:27,182,834...27,183,580
|
|
G |
SLC16A10 |
solute carrier family 16 member 10 |
|
ISO |
protein:increased expression:esophagus |
RGD |
PMID:33609949 |
RGD:151361149 |
NCBI chr 6:108,889,644...109,037,479
Ensembl chr 6:112,968,668...113,106,721
|
|
G |
SLC1A5 |
solute carrier family 1 member 5 |
disease_progression |
ISO |
protein:increased expression:esophagus |
RGD |
PMID:26936531 PMID:33609949 |
RGD:11532833 RGD:151361149 |
NCBI chr19:43,765,001...43,778,981
Ensembl chr19:52,294,655...52,307,529
|
|
G |
SLC39A6 |
solute carrier family 39 member 6 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:23644492 |
|
NCBI chr18:29,361,261...29,382,115
Ensembl chr18:32,919,878...32,940,694
|
|
G |
SLC52A3 |
solute carrier family 52 member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20729853 |
|
NCBI chr20:970,380...986,368
Ensembl chr20:739,556...755,486
|
|
G |
SLC7A5 |
solute carrier family 7 member 5 |
disease_progression |
ISO |
protein:increased expression:esophagus |
RGD |
PMID:26936531 PMID:31726270 PMID:33609949 |
RGD:11532833 RGD:151361144 RGD:151361149 |
NCBI chr16:68,512,407...68,552,763
|
|
G |
SOCS1 |
suppressor of cytokine signaling 1 |
severity treatment |
ISO |
mRNA:decreased expression:esophagus |
RGD |
PMID:21385099 PMID:28233302 PMID:31728180 |
RGD:150573691 RGD:150573812 RGD:150573815 |
NCBI chr16:10,196,432...10,198,205
|
|
G |
SOD2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18167182 PMID:21517111 |
|
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
|
|
G |
SOX2 |
SRY-box transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19801978 |
|
NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662
|
|
G |
SPEN |
spen family transcriptional repressor |
|
ISO |
associated with Neoplasm Metastasis; DNA:mutations |
RGD |
PMID:33363385 |
RGD:151347445 |
NCBI chr 1:14,987,415...15,079,477
Ensembl chr 1:16,004,473...16,072,585
|
|
G |
STIM1 |
stromal interaction molecule 1 |
exacerbates |
ISO |
protein:increased expression:esophagus (human) |
RGD |
PMID:31843504 |
RGD:152995393 |
NCBI chr11:3,726,501...3,954,951
Ensembl chr11:3,840,513...4,065,224
|
|
G |
STING1 |
stimulator of interferon response cGAMP interactor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25129146 |
|
NCBI chr 5:134,845,689...134,852,938
Ensembl chr 5:140,967,399...140,973,846
|
|
G |
TAGLN |
transgelin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr11:112,033,257...112,038,749
Ensembl chr11:115,966,516...115,972,129
|
|
G |
TAP1 |
transporter 1, ATP binding cassette subfamily B member |
|
ISO |
protein:decreased expression:esophagus |
RGD |
PMID:19492245 |
RGD:6482249 |
NCBI chr 6:32,414,665...32,423,488
Ensembl chr 6:33,530,171...33,538,978
|
|
G |
TAP2 |
transporter 2, ATP binding cassette subfamily B member |
|
ISO |
protein:decreased expression:esophagus |
RGD |
PMID:19492245 |
RGD:6482249 |
NCBI chr 6:32,394,586...32,408,297
Ensembl chr 6:33,507,332...33,523,750
|
|
G |
TCN2 |
transcobalamin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29379198 |
|
NCBI chr22:11,635,107...11,655,137
Ensembl chr22:29,435,517...29,455,494
|
|
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:15112252 PMID:25007268 PMID:26716642 |
RGD:11572962 RGD:150530488 RGD:152977757 |
Ensembl chr 5:1,300,960...1,338,872
|
|
G |
TET2 |
tet methylcytosine dioxygenase 2 |
severity |
ISO |
associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human) DNA:mutations |
RGD |
PMID:26093090 PMID:26873401 PMID:27050164 |
RGD:11528815 RGD:150429656 RGD:150429668 |
NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400
|
|
G |
TET3 |
tet methylcytosine dioxygenase 3 |
|
ISO |
mRNA:decreased expression:esophagus squamous epithelium (human) |
RGD |
PMID:27050164 |
RGD:150429668 |
NCBI chr2A:74,058,948...74,180,046
Ensembl chr2A:75,568,636...75,682,701
|
|
G |
TGFBR2 |
transforming growth factor beta receptor 2 |
|
ISO |
|
OMIM |
|
|
NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856
|
|
G |
TNFAIP3 |
TNF alpha induced protein 3 |
severity |
ISO |
mRNA,protein:increased expression:esophagus squamous epithelium (human) |
RGD |
PMID:28197630 |
RGD:151347617 |
NCBI chr 6:135,617,465...135,634,085
Ensembl chr 6:139,705,255...139,720,819
|
|
G |
TNFAIP8 |
TNF alpha induced protein 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21969086 |
|
NCBI chr 5:114,657,140...114,784,819
Ensembl chr 5:120,442,500...120,569,877
|
|
G |
TP53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism DNA:misssense mutation: :p.R72P (rs1042522) (human) |
CTD RGD |
PMID:16543248 PMID:25151357 PMID:28789369 |
RGD:14995932 |
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
|
|
G |
TPI1 |
triosephosphate isomerase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr12:6,999,275...7,002,678
Ensembl chr12:6,910,813...6,913,612
|
|
G |
TPM1 |
tropomyosin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr15:41,989,239...42,018,520
Ensembl chr15:60,286,587...60,315,530
|
|
G |
TPM2 |
tropomyosin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394
|
|
G |
TXNDC17 |
thioredoxin domain containing 17 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
|
NCBI chr17:6,678,375...6,680,902
Ensembl chr17:6,666,067...6,668,475
|
|
G |
TYMP |
thymidine phosphorylase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11641616 |
|
NCBI chr22:30,772,088...30,776,618
|
|
G |
USP8 |
ubiquitin specific peptidase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35022897 |
|
NCBI chr15:29,374,945...29,451,235
Ensembl chr15:47,713,997...47,790,624
|
|
G |
VENTX |
VENT homeobox |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30431698 |
|
Ensembl chr10:134,144,411...134,149,277
|
|
G |
WRAP53 |
WD repeat containing antisense to TP53 |
disease_progression |
ISO |
|
RGD |
PMID:24626331 |
RGD:21081532 |
NCBI chr17:7,715,897...7,735,873
Ensembl chr17:7,707,221...7,723,394
|
|
G |
WWOX |
WW domain containing oxidoreductase |
|
ISO |
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic |
ClinVar OMIM |
PMID:11956080 PMID:28492532 |
|
NCBI chr16:58,689,609...59,800,333
Ensembl chr16:78,125,302...79,231,546
|
|
G |
XPO1 |
exportin 1 |
exacerbates |
ISO |
protein:increased expression:esophagus (human) mRNA, protein:increased expression:epithelium of esophagus (human) |
RGD |
PMID:24898882 PMID:25148895 |
RGD:151667431 RGD:151667436 |
NCBI chr2A:61,562,372...61,622,841
Ensembl chr2A:62,698,935...62,757,793
|
|
G |
XRCC1 |
X-ray repair cross complementing 1 |
susceptibility no_association treatment |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNPs,haplotypes:multiple (human) DNA:missense mutation:cds: p.R399Q (human) DNA:SNPs:exon 6, exon 9, exon 10:multiple (human) |
CTD RGD |
PMID:11400117 PMID:16639733 PMID:25710005 PMID:27123143 PMID:28356949 |
RGD:150530501 RGD:150530505 RGD:150530634 RGD:151347444 |
NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
|
|
G |
ZCCHC12 |
zinc finger CCHC-type containing 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30431698 |
|
NCBI chr X:107,831,784...107,834,964
Ensembl chr X:118,299,326...118,300,534
|
|
|
G |
ABCB1 |
ATP binding cassette subfamily B member 1 |
|
ISO |
protein,mRNA:increased expression:small intestine (mouse) |
RGD |
PMID:12615699 |
RGD:8657097 |
NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238
|
|
G |
AKT1 |
AKT serine/threonine kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17942926 |
|
NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
|
|
G |
APC |
APC regulator of WNT signaling pathway |
|
ISO |
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 |
ClinVar |
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:7833149 PMID:7833931 PMID:7833936 PMID:7853377 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:11159880 PMID:11207040 PMID:11221825 PMID:11247895 PMID:11247896 PMID:11257105 PMID:11267860 PMID:11317365 PMID:11354631 PMID:11551102 PMID:11559652 PMID:11606402 PMID:11668620 PMID:11720476 PMID:11741105 PMID:11748858 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: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:14734220 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:15952110 PMID:15986289 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:17064931 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:17881494 PMID:17920230 PMID:17963004 PMID:18063416 PMID:18155426 PMID:18199528 PMID:18343606 PMID:18433509 PMID:18612690 PMID:18632633 PMID:18770064 PMID:18794146 PMID:18844223 PMID:18948947 PMID:18992635 PMID:19029688 PMID:19036155 PMID:19196998 PMID:19279422 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:21255554 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:22431159 PMID:22434720 PMID:22675565 PMID:22703879 PMID:22722839 PMID:22773231 PMID:22809634 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:25203624 PMID:25231023 PMID:25326637 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:26667234 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:27449473 PMID:27498913 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:28423518 PMID:28492532 PMID:28502729 PMID:28533537 PMID:28576136 PMID:28608266 PMID:28706299 PMID:28749474 PMID:28791770 PMID:28828701 PMID:28840378 PMID:28873162 PMID:28944238 PMID:29029407 PMID:29122597 PMID:29212164 PMID:29245953 PMID:29338072 PMID:29351919 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:29753700 PMID:29901124 PMID:29915797 PMID:29945567 PMID:29961768 PMID:29978187 PMID:29987844 PMID:30006736 PMID:30067863 PMID:30113427 PMID:30122538 PMID:30152102 PMID:30239046 PMID:30252101 PMID:30256826 PMID:30257133 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:31469036 PMID:31504825 PMID:31570899 PMID:31874108 PMID:31942411 PMID:32268276 PMID:32292534 PMID:32547059 PMID:32658311 PMID:32754865 PMID:32854451 PMID:32980694 PMID:32994724 PMID:33009979 PMID:33087929 PMID:33193653 PMID:33279946 PMID:33294277 PMID:33332384 PMID:33352971 PMID:33436027 PMID:33503190 PMID:33646313 PMID:33753878 PMID:33773808 PMID:33788735 PMID:33875564 PMID:34250417 PMID:34326862 PMID:34347074 PMID:34426522 PMID:34479915 PMID:34666312 PMID:34897210 PMID:35128723 PMID:35142982 PMID:35189564 PMID:35264596 PMID:35430768 PMID:35534704 PMID:35979026 PMID:36097219 PMID:36225625 PMID:36243179 PMID:36356413 PMID:36586069 PMID:36988593 PMID:38054408 More...
|
|
NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
|
|
G |
AXIN2 |
axin 2 |
|
ISO |
protein:increased expression:mucosa: |
RGD |
PMID:11809809 |
RGD:151356508 |
NCBI chr17:59,476,336...59,509,358
Ensembl chr17:64,688,416...64,720,086
|
|
G |
CD44 |
CD44 molecule (IN blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28255344 |
|
NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009
|
|
G |
CSF1R |
colony stimulating factor 1 receptor |
severity |
ISO |
DNA:SNPs,haplotype:promoter:multiple (pig) |
RGD |
PMID:32717306 |
RGD:150524307 |
NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415
|
|
G |
CYP26A1 |
cytochrome P450 family 26 subfamily A member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16885356 |
|
NCBI chr10:89,817,623...89,822,024
Ensembl chr10:93,330,460...93,334,105
|
|
G |
EGFR |
epidermal growth factor receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25200834 |
|
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
|
|
G |
F5 |
coagulation factor V |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25200834 |
|
NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915
|
|
G |
FMO3 |
flavin containing dimethylaniline monoxygenase 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17559352 |
|
NCBI chr 1:146,583,570...146,611,720
Ensembl chr 1:150,298,957...150,325,850
|
|
G |
GREM1 |
gremlin 1, DAN family BMP antagonist |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561515 |
|
NCBI chr15:11,213,870...11,230,619
|
|
G |
HDAC2 |
histone deacetylase 2 |
treatment |
ISO |
|
RGD |
PMID:24218540 |
RGD:9590246 |
NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004
|
|
G |
IHH |
Indian hedgehog signaling molecule |
|
ISO |
|
RGD |
PMID:25307863 |
RGD:11528847 |
NCBI chr2B:106,312,472...106,319,124
Ensembl chr2B:224,906,271...224,911,506
|
|
G |
ITIH4 |
inter-alpha-trypsin inhibitor heavy chain 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25200834 |
|
NCBI chr 3:52,754,664...52,774,867
Ensembl chr 3:53,980,668...53,998,038
|
|
G |
LRG1 |
leucine rich alpha-2-glycoprotein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25200834 |
|
NCBI chr19:3,557,079...3,560,193
Ensembl chr19:4,504,704...4,507,790
|
|
G |
MCC |
MCC regulator of WNT signaling pathway |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8071957 |
|
NCBI chr 5:108,382,066...108,845,503
Ensembl chr 5:114,184,907...114,647,847
|
|
G |
MSH3 |
mutS homolog 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 5:34,408,469...34,663,483
Ensembl chr 5:34,719,322...34,938,469
|
|
G |
MUTYH |
mutY DNA glycosylase |
|
ISO |
ClinVar Annotator: match by term: Familial multiple polyposis syndrome | ClinVar Annotator: match by term: MYH-associated polyposis |
ClinVar |
PMID:11818965 PMID:12393807 PMID:12606733 PMID:12707038 PMID:12853198 PMID:12917422 PMID:14991577 PMID:15034862 PMID:15036665 PMID:15465463 PMID:15635083 PMID:15931596 PMID:15943555 PMID:15987719 PMID:16134147 PMID:16140997 PMID:16287072 PMID:16338133 PMID:16408224 PMID:16455870 PMID:16492921 PMID:16557584 PMID:16616356 PMID:16645203 PMID:16774938 PMID:16941501 PMID:17031395 PMID:17081686 PMID:17161978 PMID:17368238 PMID:17369389 PMID:17489848 PMID:17524638 PMID:17674103 PMID:17874208 PMID:17931073 PMID:17949294 PMID:17956577 PMID:18172263 PMID:18271935 PMID:18414213 PMID:18506705 PMID:18534194 PMID:18992148 PMID:19032956 PMID:19245865 PMID:19279422 PMID:19300419 PMID:19394335 PMID:19506731 PMID:19527492 PMID:19531215 PMID:19620482 PMID:19725997 PMID:19732775 PMID:19793053 PMID:19806110 PMID:19836313 PMID:19953527 PMID:19998059 PMID:20191381 PMID:20418187 PMID:20571908 PMID:20618354 PMID:20663686 PMID:20725929 PMID:20848659 PMID:21063410 PMID:21153778 PMID:21171015 PMID:21178863 PMID:21235684 PMID:21520333 PMID:21815886 PMID:21952991 PMID:22158503 PMID:22266422 PMID:22297469 PMID:22473953 PMID:22538434 PMID:22703879 PMID:22744763 PMID:22865608 PMID:22922830 PMID:22926731 PMID:23007840 PMID:23035301 PMID:23108399 PMID:23322991 PMID:23361220 PMID:23561487 PMID:23605219 PMID:23625202 PMID:23729658 PMID:23805267 PMID:24033266 PMID:24039736 PMID:24082139 PMID:24278394 PMID:24444654 PMID:24569162 PMID:24691292 PMID:24728327 PMID:24733792 PMID:24953332 PMID:25186627 PMID:25318351 PMID:25368107 PMID:25590978 PMID:25741868 PMID:25820570 PMID:25937855 PMID:25938944 PMID:25980754 PMID:26202870 PMID:26332594 PMID:26377631 PMID:26446593 PMID:26467025 PMID:26517685 PMID:26556299 PMID:26580448 PMID:26681312 PMID:26689913 PMID:26822237 PMID:26845104 PMID:26902849 PMID:27014339 PMID:27153395 PMID:27194394 PMID:27631816 PMID:27696107 PMID:27783336 PMID:27797849 PMID:27829682 PMID:27870730 PMID:28127763 PMID:28135145 PMID:28152038 PMID:28195393 PMID:28492532 PMID:28502729 PMID:28503720 PMID:28533537 PMID:28551381 PMID:28577310 PMID:28634180 PMID:28687356 PMID:28709830 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29147111 PMID:29371908 PMID:29406563 PMID:29484706 PMID:29506128 PMID:29557500 PMID:29625052 PMID:29766397 PMID:29785153 PMID:29967336 PMID:29978187 PMID:30067863 PMID:30122538 PMID:30256826 PMID:30291343 PMID:30306255 PMID:30309722 PMID:30322717 PMID:30333958 PMID:30564557 PMID:30582135 PMID:30604180 PMID:30609409 PMID:30613976 PMID:30620386 PMID:30676620 PMID:30702970 PMID:30787465 PMID:30833417 PMID:30877237 PMID:30953464 PMID:31159747 PMID:31263571 PMID:31285513 PMID:31422818 PMID:31447099 PMID:31512090 PMID:31589614 PMID:31618753 PMID:31829624 PMID:31921681 PMID:31942411 PMID:31980526 PMID:32088803 PMID:32231684 PMID:32283892 PMID:32338768 PMID:32390558 PMID:32570879 PMID:32615015 PMID:32830346 PMID:32854451 PMID:32868316 PMID:33087929 PMID:33130102 PMID:33193653 PMID:33258288 PMID:33332384 PMID:33384714 PMID:33442023 PMID:33471991 PMID:33504652 PMID:33748650 PMID:34026625 PMID:34259353 PMID:34308366 PMID:34326862 PMID:34347074 PMID:34426522 PMID:34704405 PMID:34816434 PMID:35264596 PMID:35534704 PMID:35535697 PMID:35545820 PMID:35668106 More...
|
|
NCBI chr 1:44,632,102...44,643,292
Ensembl chr 1:45,990,588...46,002,645
|
|
G |
NTHL1 |
nth like DNA glycosylase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25938944 |
|
NCBI chr16:655,433...663,521
Ensembl chr16:2,127,858...2,135,656
|
|
G |
PLCG1 |
phospholipase C gamma 1 |
|
ISO |
protein:increased expression:colonic mucosa (human) |
RGD |
PMID:8174133 |
RGD:151356944 |
NCBI chr20:37,477,077...37,515,854
Ensembl chr20:38,572,709...38,615,145
|
|
G |
POLD1 |
DNA polymerase delta 1, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611
|
|
G |
POLE |
DNA polymerase epsilon, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Polymerase proofreading-related adenomatous polyposis |
ClinVar |
PMID:20951805 PMID:21157497 PMID:22980975 PMID:23636398 PMID:24033266 PMID:25079317 PMID:25124163 PMID:25224212 PMID:25529843 PMID:25559809 PMID:25642631 PMID:25741868 PMID:25860647 PMID:26467025 PMID:26822575 PMID:28427513 PMID:28492532 PMID:29120461 PMID:29987844 PMID:30194485 PMID:32424176 PMID:32792570 PMID:35108036 More...
|
|
NCBI chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650
|
|
G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17942926 |
|
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
|
|
G |
SOD2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12907644 |
|
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
|
|
G |
STK11 |
serine/threonine kinase 11 |
|
ISO |
ClinVar Annotator: match by term: MYH-associated polyposis |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28135145 PMID:28492532 PMID:33471991 |
|
Ensembl chr19:1,188,537...1,210,677
|
|
|
G |
ABLIM3 |
actin binding LIM protein family member 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:144,568,394...144,686,983
Ensembl chr 5:150,576,604...150,697,271
|
|
G |
ACSL6 |
acyl-CoA synthetase long chain family member 6 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:127,373,306...127,434,954
Ensembl chr 5:133,537,292...133,586,711
|
|
G |
ADAMTS19 |
ADAM metallopeptidase with thrombospondin type 1 motif 19 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:124,873,078...125,153,730
Ensembl chr 5:130,635,937...130,893,174
|
|
G |
ADGRV1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:24,208,844...24,811,284
Ensembl chr 5:24,341,808...24,945,477
|
|
G |
ADRB2 |
adrenoceptor beta 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892
|
|
G |
AFAP1L1 |
actin filament associated protein 1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:144,698,397...144,767,606
Ensembl chr 5:150,708,786...150,778,670
|
|
G |
AFF4 |
ALF transcription elongation factor 4 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:128,292,700...128,374,511
Ensembl chr 5:134,457,398...134,532,625
|
|
G |
ALDH7A1 |
aldehyde dehydrogenase 7 family member A1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:121,946,527...122,000,273
Ensembl chr 5:127,718,978...127,771,047
|
|
G |
ANKHD1 |
ankyrin repeat and KH domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:135,768,442...135,913,976
Ensembl chr 5:141,884,908...142,031,298
|
|
G |
ANXA6 |
annexin A6 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:146,528,446...146,585,186
Ensembl chr 5:152,530,445...152,652,231
|
|
G |
AP3S1 |
adaptor related protein complex 3 subunit sigma 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:111,195,900...111,268,129
Ensembl chr 5:116,992,049...117,063,727
|
|
G |
APBB3 |
amyloid beta precursor protein binding family B member 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:135,922,662...135,928,995
Ensembl chr 5:142,039,818...142,046,157
|
|
G |
APC |
APC regulator of WNT signaling pathway |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
OMIM ClinVar |
PMID:186122 PMID:814096 PMID:950360 PMID:1316610 PMID:1317264 PMID:1319115 PMID:1319838 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1528264 PMID:1651174 PMID:1651563 PMID:1678319 PMID:1843350 PMID:1944466 PMID:2068566 PMID:2068568 PMID:2164769 PMID:2281069 PMID:2472832 PMID:2478327 PMID:2996804 PMID:7485167 PMID:7490101 PMID:7524601 PMID:7562975 PMID:7661930 PMID:7746201 PMID:7797123 PMID:7833149 PMID:7833931 PMID:7833936 PMID:7853377 PMID:7951218 PMID:7959691 PMID:7981688 PMID:8019566 PMID:8020934 PMID:8103406 PMID:8111410 PMID:8111416 PMID:8125478 PMID:8162022 PMID:8162051 PMID:8187091 PMID:8252630 PMID:8252631 PMID:8381579 PMID:8381580 PMID:8381581 PMID:8390900 PMID:8395941 PMID:8544194 PMID:8594558 PMID:8625067 PMID:8730280 PMID:8733048 PMID:8834176 PMID:8835324 PMID:8844222 PMID:8888441 PMID:8910893 PMID:8931709 PMID:8940262 PMID:8940264 PMID:8941012 PMID:8956059 PMID:8968744 PMID:8990002 PMID:9067764 PMID:9101302 PMID:9288102 PMID:9298819 PMID:9341879 PMID:9342373 PMID:9343467 PMID:9375853 PMID:9382065 PMID:9452101 PMID:9476377 PMID:9487968 PMID:9494520 PMID:9536098 PMID:9585599 PMID:9585611 PMID:9603437 PMID:9664575 PMID:9669663 PMID:9724771 PMID:9731522 PMID:9731533 PMID:9751605 PMID:9765274 PMID:9824584 PMID:9831355 PMID:9843214 PMID:9869602 PMID:9869603 PMID:9869620 PMID:9916927 PMID:9950360 PMID:9973276 PMID:10077047 PMID:10083733 PMID:10090483 PMID:10094547 PMID:10439961 PMID:10454823 PMID:10470088 PMID:10494086 PMID:10562580 PMID:10598803 PMID:10612827 PMID:10634400 PMID:10646887 PMID:10666372 PMID:10669993 PMID:10679643 PMID:10713886 PMID:10737725 PMID:10737795 PMID:10768871 PMID:10811618 PMID:10830991 PMID:10923044 PMID:10938175 PMID:10982189 PMID:11001924 PMID:11145293 PMID:11159880 PMID:11207040 PMID:11221825 PMID:11247895 PMID:11247896 PMID:11257105 PMID:11267860 PMID:11317365 PMID:11354631 PMID:11355315 PMID:11466687 PMID:11551102 PMID:11559652 PMID:11606402 PMID:11668620 PMID:11707392 PMID:11720476 PMID:11741105 PMID:11748858 PMID:11754114 PMID:11818965 PMID:11819789 PMID:11823972 PMID:11839722 PMID:11852337 PMID:11896079 PMID:11904335 PMID:11933206 PMID:11950808 PMID:11960572 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12136240 PMID:12172928 PMID:12173026 PMID:12173321 PMID:12357334 PMID:12374230 PMID:12486240 PMID:12494469 PMID:12503191 PMID:12527714 PMID:12533824 PMID:12537656 PMID:12581900 PMID:12621137 PMID:12702169 PMID:12721244 PMID:12894596 PMID:12901799 PMID:14514668 PMID:14522379 PMID:14523376 PMID:14574009 PMID:14578138 PMID:14616385 PMID:14624392 PMID:14633595 PMID:14672538 PMID:14695993 PMID:14729851 PMID:14734220 PMID:14961559 PMID:14966376 PMID:14999774 PMID:15024739 PMID:15095859 PMID:15108286 PMID:15108288 PMID:15122587 PMID:15131404 PMID:15133491 PMID:15266213 PMID:15300576 PMID:15300853 PMID:15311282 PMID:15446460 PMID:15459959 PMID:15654777 PMID:15689459 PMID:15712637 PMID:15771908 PMID:15833136 PMID:15857185 PMID:15929773 PMID:15951963 PMID:15952110 PMID:15986289 PMID:16088911 PMID:16110024 PMID:16111973 PMID:16134147 PMID:16199547 PMID:16228836 PMID:16292097 PMID:16317745 PMID:16454848 PMID:16461775 PMID:16478792 PMID:16569251 PMID:16616356 PMID:16650078 PMID:16680592 PMID:16736293 PMID:16875934 PMID:16944273 PMID:17039269 PMID:17064931 PMID:17119068 PMID:17135589 PMID:17169185 PMID:17293347 PMID:17410430 PMID:17411426 PMID:17426470 PMID:17486639 PMID:17489848 PMID:17556698 PMID:17568392 PMID:17576681 PMID:17604324 PMID:17665205 PMID:17704924 PMID:17726045 PMID:17785554 PMID:17854661 PMID:17881494 PMID:17920230 PMID:17963004 PMID:18063416 PMID:18155426 PMID:18166348 PMID:18199528 PMID:18224684 PMID:18343606 PMID:18369740 PMID:18387968 PMID:18393237 PMID:18406876 PMID:18433509 PMID:18487285 PMID:18612690 PMID:18629394 PMID:18770064 PMID:18794146 PMID:18844223 PMID:18948947 PMID:18982352 PMID:18992635 PMID:19029688 PMID:19036155 PMID:19111562 PMID:19196998 PMID:19279422 PMID:19307944 PMID:19331226 PMID:19336753 PMID:19347965 PMID:19409520 PMID:19444466 PMID:19474113 PMID:19506109 PMID:19531215 PMID:19701947 PMID:19725996 PMID:19763152 PMID:19768578 PMID:19793053 PMID:19995397 PMID:20007843 PMID:20033787 PMID:20223039 PMID:20232483 PMID:20233475 PMID:20301519 PMID:20307669 PMID:20333795 PMID:20434453 PMID:20513532 PMID:20564245 PMID:20649969 PMID:20682701 PMID:20685668 PMID:20924072 PMID:20977806 PMID:21078199 PMID:21110124 PMID:21142386 PMID:21153778 PMID:21157497 PMID:21255554 PMID:21315632 PMID:21476993 PMID:21520333 PMID:21533174 PMID:21598003 PMID:21643010 PMID:21646762 PMID:21653199 PMID:21779980 PMID:21813476 PMID:21858148 PMID:21859464 PMID:21901162 PMID:21902576 PMID:21909382 PMID:21970370 PMID:21995949 PMID:22000517 PMID:22027476 PMID:22135120 PMID:22150579 PMID:22164339 PMID:22395475 PMID:22406018 PMID:22425061 PMID:22431159 PMID:22434720 PMID:22447671 PMID:22585170 PMID:22608206 PMID:22645652 PMID:22669205 PMID:22675565 PMID:22703879 PMID:22722829 PMID:22722839 PMID:22773231 PMID:22799487 PMID:22809634 PMID:22810696 PMID:22848674 PMID:22851115 PMID:22863191 PMID:22864254 PMID:22864938 PMID:22875147 PMID:22895193 PMID:22941256 PMID:22976915 PMID:22987206 PMID:22995991 PMID:23054214 PMID:23085758 PMID:23116752 PMID:23159591 PMID:23185543 PMID:23204322 PMID:23244118 PMID:23274167 PMID:23292937 PMID:23348723 PMID:23460355 PMID:23484150 PMID:23561487 PMID:23571587 PMID:23575299 PMID:23576677 PMID:23585368 PMID:23700467 PMID:23709753 PMID:23715166 PMID:23725351 PMID:23757202 PMID:23771323 PMID:23846443 PMID:23896379 PMID:23910461 PMID:23970361 PMID:24033266 PMID:24039736 PMID:24055113 PMID:24082139 PMID:24123366 PMID:24142997 PMID:24233542 PMID:24310308 PMID:24326041 PMID:24416237 PMID:24448499 PMID:24470207 PMID:24498620 PMID:24506336 PMID:24518971 PMID:24549056 PMID:24573554 PMID:24599579 PMID:24618431 PMID:24651015 PMID:24651453 PMID:24664542 PMID:24728327 PMID:24735542 PMID:24750145 PMID:24755471 PMID:24763289 PMID:24790607 PMID:24841357 PMID:24861525 PMID:24946964 PMID:25085752 PMID:25142776 PMID:25148578 PMID:25157968 PMID:25159889 PMID:25159915 PMID:25178641 PMID:25186627 PMID:25203624 PMID:25231023 PMID:25243319 PMID:25256751 PMID:25257991 PMID:25318351 PMID:25326637 PMID:25338684 PMID:25356985 PMID:25479140 PMID:25490678 PMID:25525159 PMID:25559809 PMID:25590978 PMID:25604157 PMID:25637381 PMID:25640679 PMID:25665006 PMID:25676610 PMID:25710373 PMID:25722345 PMID:25741868 PMID:25742471 PMID:25778705 PMID:25801821 PMID:25815427 PMID:25819062 PMID:25832318 PMID:25925381 PMID:25938944 PMID:25941542 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26000489 PMID:26023681 PMID:26138249 PMID:26161710 PMID:26163615 PMID:26173098 PMID:26178707 PMID:26187149 PMID:26207792 PMID:26252958 PMID:26300997 PMID:26309368 PMID:26314409 PMID:26320869 PMID:26332594 PMID:26336887 PMID:26338694 PMID:26373296 PMID:26378065 PMID:26394139 PMID:26414517 PMID:26416840 PMID:26421687 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26480326 PMID:26486734 PMID:26493165 PMID:26508446 PMID:26510091 PMID:26511139 PMID:26517685 PMID:26530882 PMID:26556299 PMID:26580448 PMID:26613750 PMID:26625971 PMID:26643872 PMID:26650777 PMID:26667234 PMID:26681312 PMID:26684191 PMID:26690363 PMID:26692440 PMID:26787237 PMID:26819281 PMID:26822149 PMID:26837502 PMID:26840078 PMID:26845104 PMID:26862949 PMID:26900293 PMID:26917275 PMID:26933808 PMID:26934580 PMID:26976419 PMID:27000756 PMID:27009842 PMID:27028212 PMID:27077911 PMID:27081525 PMID:27087319 PMID:27121310 PMID:27124905 PMID:27146957 PMID:27150160 PMID:27153395 PMID:27156442 PMID:27158207 PMID:27217144 PMID:27260402 PMID:27282352 PMID:27284491 PMID:27302369 PMID:27311873 PMID:27329244 PMID:27343414 PMID:27347161 PMID:27354939 PMID:27391059 PMID:27425854 PMID:27435373 PMID:27443514 PMID:27449473 PMID:27449771 PMID:27498913 PMID:27535533 PMID:27574554 PMID:27600092 PMID:27621404 PMID:27623068 PMID:27647783 PMID:27683109 PMID:27684187 PMID:27696107 PMID:27705013 PMID:27717299 PMID:27760322 PMID:27806309 PMID:27852271 PMID:27878467 PMID:27882345 PMID:27930734 PMID:27978560 PMID:28002797 PMID:28050010 PMID:28051113 PMID:28057616 PMID:28125075 PMID:28127413 PMID:28135048 PMID:28135136 PMID:28135145 PMID:28152038 PMID:28157215 PMID:28185118 PMID:28195393 PMID:28195569 PMID:28196074 PMID:28202063 PMID:28251689 PMID:28259476 PMID:28283864 PMID:28301460 PMID:28380452 PMID:28413499 PMID:28423518 PMID:28481359 PMID:28492532 PMID:28502729 PMID:28503720 PMID:28524162 PMID:28526081 PMID:28528518 PMID:28533537 PMID:28548127 PMID:28569743 PMID:28576136 PMID:28595259 PMID:28608266 PMID:28640387 PMID:28663347 PMID:28706299 PMID:28717660 PMID:28726808 PMID:28744403 PMID:28749474 PMID:28805986 PMID:28828701 PMID:28840378 PMID:28859360 PMID:28873162 PMID:28891274 PMID:28944238 PMID:28975465 PMID:29029407 PMID:29050249 PMID:29069792 PMID:29109117 PMID:29112017 PMID:29122597 PMID:29141224 PMID:29141268 PMID:29192238 PMID:29212164 PMID:29237405 PMID:29237421 PMID:29245953 PMID:29251405 PMID:29338072 PMID:29351919 PMID:29360161 PMID:29367705 PMID:29368261 PMID:29368341 PMID:29371908 PMID:29386312 PMID:29406563 PMID:29419868 PMID:29458332 PMID:29478780 PMID:29489754 PMID:29506128 PMID:29517769 PMID:29518763 PMID:29535845 PMID:29562902 PMID:29596542 PMID:29620724 PMID:29625052 PMID:29641532 PMID:29683816 PMID:29684080 PMID:29710228 PMID:29723602 PMID:29748005 PMID:29752822 PMID:29753700 PMID:29754767 PMID:29868112 PMID:29901124 PMID:29915797 PMID:29945567 PMID:29954149 PMID:29961768 PMID:29968043 PMID:29978187 PMID:29987844 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30102335 PMID:30111351 PMID:30113427 PMID:30122538 PMID:30148152 PMID:30152102 PMID:30239046 PMID:30252101 PMID:30256815 PMID:30256826 PMID:30257133 PMID:30262796 PMID:30267214 PMID:30272267 PMID:30274973 PMID:30279230 PMID:30287922 PMID:30306255 PMID:30324682 PMID:30374176 PMID:30426508 PMID:30443844 PMID:30487145 PMID:30523670 PMID:30569724 PMID:30580288 PMID:30613976 PMID:30620386 PMID:30666417 PMID:30680046 PMID:30696621 PMID:30705875 PMID:30809968 PMID:30814645 PMID:30833958 PMID:30877237 PMID:30897307 PMID:30980208 PMID:30981987 PMID:31019283 PMID:31054147 PMID:31062380 PMID:31069152 PMID:31113927 PMID:31118792 PMID:31133068 PMID:31159747 PMID:31175917 PMID:31186761 PMID:31269945 PMID:31273614 PMID:31278746 PMID:31283021 PMID:31285513 PMID:31360874 PMID:31372739 PMID:31403082 PMID:31409086 PMID:31422818 PMID:31428572 PMID:31444830 PMID:31447099 PMID:31465090 PMID:31469036 PMID:31486992 PMID:31504825 PMID:31547467 PMID:31552911 PMID:31570899 PMID:31613886 PMID:31702654 PMID:31703593 PMID:31744909 PMID:31780696 PMID:31802619 PMID:31854063 PMID:31874108 PMID:31921681 PMID:31942411 PMID:31970404 PMID:32067438 PMID:32068069 PMID:32070411 PMID:32088909 PMID:32123317 PMID:32251017 PMID:32255556 PMID:32268276 PMID:32281046 PMID:32283892 PMID:32369273 PMID:32390703 PMID:32543227 PMID:32547059 PMID:32547938 PMID:32552793 PMID:32590455 PMID:32635641 PMID:32658311 PMID:32720237 PMID:32751567 PMID:32754865 PMID:32829589 PMID:32854451 PMID:32860008 PMID:32885271 PMID:32957588 PMID:32980694 PMID:32984025 PMID:32992489 PMID:32994724 PMID:33009979 PMID:33011440 PMID:33087929 PMID:33193653 PMID:33242120 PMID:33279946 PMID:33294277 PMID:33309985 PMID:33332384 PMID:33352971 PMID:33436027 PMID:33503190 PMID:33525650 PMID:33606809 PMID:33646313 PMID:33670833 PMID:33753878 PMID:33769591 PMID:33773808 PMID:33788735 PMID:33821390 PMID:33875564 PMID:33977078 PMID:34034685 PMID:34106356 PMID:34250417 PMID:34271781 PMID:34301788 PMID:34326862 PMID:34347074 PMID:34371384 PMID:34388351 PMID:34426522 PMID:34479915 PMID:34545850 PMID:34646395 PMID:34666312 PMID:34707284 PMID:34754157 PMID:34771502 PMID:34855061 PMID:34897210 PMID:34921310 PMID:35070997 PMID:35098669 PMID:35128723 PMID:35142982 PMID:35189564 PMID:35205366 PMID:35260767 PMID:35264596 PMID:35430768 PMID:35495172 PMID:35534704 PMID:35979026 PMID:35980532 PMID:36097219 PMID:36225625 PMID:36243179 PMID:36356413 PMID:36586069 PMID:36898365 PMID:36900197 PMID:36988593 PMID:38054408 More...
|
|
NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
|
|
G |
ARAP3 |
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:137,014,286...137,042,786
Ensembl chr 5:143,127,414...143,153,318
|
|
G |
ARB2A |
ARB2 cotranscriptional regulator A |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:21,256,767...21,749,797
Ensembl chr 5:21,431,125...21,761,210
|
|
G |
ARHGAP26 |
Rho GTPase activating protein 26 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:138,125,142...138,585,550
Ensembl chr 5:144,234,913...144,686,252
|
|
G |
ARHGEF37 |
Rho guanine nucleotide exchange factor 37 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:145,006,880...145,060,447
Ensembl chr 5:150,986,462...151,068,837
|
|
G |
ARL14EPL |
ADP ribosylation factor like GTPase 14 effector protein like |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:111,405,276...111,413,850
Ensembl chr 5:117,202,911...117,210,567
|
|
G |
ARRDC3 |
arrestin domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:23,991,325...24,005,913
Ensembl chr 5:24,126,427...24,140,858
|
|
G |
ARSI |
arylsulfatase family member I |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:145,720,651...145,763,532
Ensembl chr 5:151,725,264...151,732,277
|
|
G |
ARSK |
arylsulfatase family member K |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:19,744,154...19,794,098
Ensembl chr 5:19,890,869...19,939,068
|
|
G |
ATG12 |
autophagy related 12 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:111,184,617...111,196,038
|
|
G |
ATOX1 |
antioxidant 1 copper chaperone |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:147,166,744...147,181,970
Ensembl chr 5:153,169,467...153,184,505
|
|
G |
BRD8 |
bromodomain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:133,535,321...133,557,304
Ensembl chr 5:139,652,112...139,690,468
|
|
G |
C4H5orf15 |
chromosome 4 C5orf15 homolog |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:129,358,903...129,372,185
Ensembl chr 5:135,512,835...135,526,105
|
|
G |
C4H5orf24 |
chromosome 4 C5orf24 homolog |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:130,247,436...130,261,173
|
|
G |
C4H5orf46 |
chromosome 4 C5orf46 homolog |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:143,331,621...143,348,025
Ensembl chr 5:149,343,467...149,357,298
|
|
G |
C4H5orf63 |
chromosome 4 C5orf63 homolog |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:122,453,035...122,479,383
Ensembl chr 5:128,221,026...128,247,118
|
|
G |
CAMK2A |
calcium/calmodulin dependent protein kinase II alpha |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:145,644,164...145,714,143
Ensembl chr 5:151,649,062...151,719,373
|
|
G |
CAMK4 |
calcium/calmodulin dependent protein kinase IV |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:106,590,803...106,855,592
Ensembl chr 5:112,393,211...112,647,203
|
|
G |
CAMLG |
calcium modulating ligand |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:130,138,644...130,144,540
Ensembl chr 5:136,282,910...136,295,382
|
|
G |
CAST |
calpastatin |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:91,972,572...92,084,657
Ensembl chr 5:97,527,071...97,636,650
|
|
G |
CATSPER3 |
cation channel sperm associated 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:130,362,139...130,406,888
Ensembl chr 5:136,503,846...136,548,162
|
|
G |
CCDC112 |
coiled-coil domain containing 112 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:110,625,665...110,655,223
Ensembl chr 5:116,424,041...116,445,629
|
|
G |
CCDC69 |
coiled-coil domain containing 69 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:146,608,461...146,651,876
Ensembl chr 5:152,530,445...152,652,231
|
|
G |
CCNH |
cyclin H |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149
|
|
G |
CCNI2 |
cyclin I family member 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:128,163,663...128,167,993
|
|
G |
CD14 |
CD14 molecule |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966
|
|
G |
CD74 |
CD74 molecule |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:145,825,635...145,836,916
Ensembl chr 5:151,830,311...151,841,334
|
|
G |
CDC23 |
cell division cycle 23 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:133,566,022...133,591,528
Ensembl chr 5:139,699,421...139,724,991
|
|
G |
CDC25C |
cell division cycle 25C |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:133,663,210...133,717,974
Ensembl chr 5:139,795,565...139,842,698
|
|
G |
CDC42SE2 |
CDC42 small effector 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:126,689,882...126,827,208
Ensembl chr 5:132,954,110...132,989,170
|
|
G |
CDKL3 |
cyclin dependent kinase like 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:129,701,972...129,774,627
Ensembl chr 5:135,852,530...135,921,269
|
|
G |
CDKN2AIPNL |
CDKN2A interacting protein N-terminal like |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:129,805,422...129,814,950
Ensembl chr 5:135,955,821...135,964,328
|
|
G |
CDO1 |
cysteine dioxygenase type 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:111,159,041...111,170,965
Ensembl chr 5:116,955,295...116,967,506
|
|
G |
CDX1 |
caudal type homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:145,591,186...145,608,976
Ensembl chr 5:151,592,139...151,614,257
|
|
G |
CEP120 |
centrosomal protein 120 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:118,736,158...118,815,194
Ensembl chr 5:124,514,996...124,593,259
|
|
G |
CETN3 |
centrin 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:24,965,172...24,981,259
Ensembl chr 5:25,098,973...25,114,676
|
|
G |
CHD1 |
chromodomain helicase DNA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:94,165,414...94,238,836
Ensembl chr 5:99,721,032...99,790,263
|
|
G |
CHSY3 |
chondroitin sulfate synthase 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:125,319,738...125,601,102
|
|
G |
COMMD10 |
COMM domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:111,439,100...111,642,742
Ensembl chr 5:117,236,804...117,438,068
|
|
G |
CSF1R |
colony stimulating factor 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415
|
|
G |
CSF2 |
colony stimulating factor 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146
|
|
G |
CSNK1A1 |
casein kinase 1 alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:144,919,775...144,977,105
Ensembl chr 5:150,929,420...150,985,912
|
|
G |
CSNK1G3 |
casein kinase 1 gamma 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:118,903,016...119,008,030
Ensembl chr 5:124,683,566...124,786,916
|
|
G |
CTNNA1 |
catenin alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:134,134,944...134,313,239
Ensembl chr 5:140,261,883...140,438,547
|
|
G |
CTXN3 |
cortexin 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:123,065,840...123,075,413
Ensembl chr 5:128,837,029...128,837,274
|
|
G |
CXCL14 |
C-X-C motif chemokine ligand 14 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:130,960,143...130,967,365
Ensembl chr 5:137,100,019...137,108,336
|
|
G |
CXXC5 |
CXXC finger protein 5 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:135,015,148...135,050,736
Ensembl chr 5:141,152,849...141,171,158
|
|
G |
CYSTM1 |
cysteine rich transmembrane module containing 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
|
|
G |
DCANP1 |
dendritic cell associated nuclear protein 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:130,838,844...130,839,588
Ensembl chr 5:136,979,950...136,980,694
|
|
G |
DCP2 |
decapping mRNA 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:11257105 PMID:14672538 PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:108,333,091...108,377,119
Ensembl chr 5:114,144,999...114,172,480
|
|
G |
DCTN4 |
dynactin subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:146,134,587...146,184,639
Ensembl chr 5:152,138,052...152,187,140
|
|
G |
DDX46 |
DEAD-box helicase 46 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:130,185,793...130,232,208
Ensembl chr 5:136,302,356...136,375,992
|
|
G |
DELE1 |
DAP3 binding cell death enhancer 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:137,283,938...137,302,203
Ensembl chr 5:143,394,554...143,412,532
|
|
G |
DIAPH1 |
diaphanous related formin 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,876,396...136,980,097
|
|
G |
DMXL1 |
Dmx like 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:114,443,624...114,634,900
Ensembl chr 5:120,229,875...120,418,440
|
|
G |
DNAJC18 |
DnaJ heat shock protein family (Hsp40) member C18 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:134,781,226...134,814,813
Ensembl chr 5:140,903,767...140,937,345
|
|
G |
DND1 |
DND microRNA-mediated repression inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,035,464...136,038,524
Ensembl chr 5:142,151,441...142,154,262
|
|
G |
DPYSL3 |
dihydropyrimidinase like 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:142,839,385...142,958,774
Ensembl chr 5:148,850,102...148,969,606
|
|
G |
DTWD2 |
DTW domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:114,204,147...114,360,857
Ensembl chr 5:119,989,422...120,146,477
|
|
G |
ECSCR |
endothelial cell surface expressed chemotaxis and apoptosis regulator |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:134,819,568...134,833,508
Ensembl chr 5:140,940,578...140,955,140
|
|
G |
EFNA5 |
ephrin A5 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:102,732,268...103,026,746
Ensembl chr 5:108,548,927...108,598,942
|
|
G |
EGR1 |
early growth response 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260
|
|
G |
ELL2 |
elongation factor for RNA polymerase II 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:19,387,443...19,464,150
Ensembl chr 5:19,533,442...19,610,079
|
|
G |
EPB41L4A |
erythrocyte membrane protein band 4.1 like 4A |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:107,524,306...107,783,354
Ensembl chr 5:113,328,040...113,585,549
|
|
G |
ERAP1 |
endoplasmic reticulum aminopeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:92,061,414...92,119,087
Ensembl chr 5:97,641,353...97,668,365
|
|
G |
ERAP2 |
endoplasmic reticulum aminopeptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:92,186,786...92,231,020
Ensembl chr 5:97,741,678...97,785,071
|
|
G |
ETF1 |
eukaryotic translation termination factor 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:133,886,074...133,922,682
Ensembl chr 5:140,015,518...140,051,974
|
|
G |
FAM114A2 |
family with sequence similarity 114 member A2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:149,388,018...149,440,434
Ensembl chr 5:155,387,688...155,438,386
|
|
G |
FAM13B |
family with sequence similarity 13 member B |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:133,324,842...133,497,303
Ensembl chr 5:139,461,276...139,555,121
|
|
G |
FAM170A |
family with sequence similarity 170 member A |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:115,015,256...115,026,037
Ensembl chr 5:120,805,065...120,810,428
|
|
G |
FAM174A |
family with sequence similarity 174 member A |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:95,863,985...95,915,633
Ensembl chr 5:101,533,818...101,585,468
|
|
G |
FAM81B |
family with sequence similarity 81 member B |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:19,905,433...19,965,168
|
|
G |
FAT2 |
FAT atypical cadherin 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:146,927,558...147,014,920
Ensembl chr 5:152,932,400...152,995,784
|
|
G |
FBN2 |
fibrillin 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:123,673,209...123,953,741
Ensembl chr 5:129,435,248...129,715,711
|
|
G |
FBXL17 |
F-box and leucine rich repeat protein 17 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:103,214,110...103,739,494
|
|
G |
FBXO38 |
F-box protein 38 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:143,814,446...143,873,919
Ensembl chr 5:149,834,109...149,881,903
|
|
G |
FCHSD1 |
FCH and double SH3 domains 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:137,000,158...137,012,379
|
|
G |
FEM1C |
fem-1 homolog C |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:110,878,460...110,902,650
Ensembl chr 5:116,675,163...116,699,085
|
|
G |
FER |
FER tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:104,099,620...104,548,077
Ensembl chr 5:109,964,823...110,350,576
|
|
G |
FGF1 |
fibroblast growth factor 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:137,949,100...138,054,553
Ensembl chr 5:144,056,387...144,078,001
|
|
G |
FNIP1 |
folliculin interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:127,070,906...127,219,548
Ensembl chr 5:133,235,501...133,384,218
|
|
G |
FSTL4 |
follistatin like 4 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:128,606,171...129,016,734
Ensembl chr 5:134,766,944...135,163,711
|
|
G |
FTMT |
ferritin mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:117,243,371...117,244,872
Ensembl chr 5:123,028,372...123,029,097
|
|
G |
G3BP1 |
G3BP stress granule assembly factor 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:147,195,100...147,234,576
Ensembl chr 5:153,197,813...153,230,414
|
|
G |
GALNT10 |
polypeptide N-acetylgalactosaminyltransferase 10 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:149,497,998...149,822,999
Ensembl chr 5:155,548,799...155,821,214
|
|
G |
GDF9 |
growth differentiation factor 9 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:128,278,496...128,284,003
Ensembl chr 5:134,437,497...134,442,846
|
|
G |
GFRA3 |
GDNF family receptor alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:133,630,274...133,652,525
Ensembl chr 5:139,762,690...139,784,942
|
|
G |
GIN1 |
gypsy retrotransposon integrase 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:98,440,271...98,475,300
Ensembl chr 5:104,124,849...104,175,826
|
|
G |
GLRA1 |
glycine receptor alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:147,245,741...147,348,555
Ensembl chr 5:153,248,488...153,350,567
|
|
G |
GLRX |
glutaredoxin |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:19,526,210...19,535,237
Ensembl chr 5:19,671,965...19,680,685
|
|
G |
GM2A |
ganglioside GM2 activator |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:146,680,277...146,696,505
Ensembl chr 5:152,680,696...152,697,018
|
|
G |
GNPDA1 |
glucosamine-6-phosphate deaminase 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:137,362,575...137,375,079
Ensembl chr 5:143,464,056...143,484,857
|
|
G |
GPR150 |
G protein-coupled receptor 150 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:19,726,143...19,730,943
|
|
G |
GPR151 |
G protein-coupled receptor 151 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:141,960,691...141,963,922
Ensembl chr 5:147,975,633...147,976,892
|
|
G |
GPX3 |
glutathione peroxidase 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:146,447,939...146,456,476
|
|
G |
GRAMD2B |
GRAM domain containing 2B |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:121,826,628...121,897,559
Ensembl chr 5:127,547,050...127,670,221
|
|
G |
GRIA1 |
glutamate ionotropic receptor AMPA type subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:148,879,996...149,206,914
Ensembl chr 5:154,879,080...155,204,660
|
|
G |
GRPEL2 |
GrpE like 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:144,771,261...144,780,987
Ensembl chr 5:150,781,671...150,791,377
|
|
G |
GRXCR2 |
glutaredoxin and cysteine rich domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:141,309,249...141,322,523
Ensembl chr 5:147,324,358...147,337,633
|
|
G |
HAND1 |
heart and neural crest derivatives expressed 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:149,876,970...149,880,269
Ensembl chr 5:155,875,935...155,878,166
|
|
G |
HARS1 |
histidyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371
|
|
G |
HBEGF |
heparin binding EGF like growth factor |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:135,699,553...135,713,366
Ensembl chr 5:141,816,402...141,830,531
|
|
G |
HDAC3 |
histone deacetylase 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,981,790...136,997,786
Ensembl chr 5:143,094,406...143,110,322
|
|
G |
HINT1 |
histidine triad nucleotide binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:126,587,934...126,594,032
Ensembl chr 5:132,755,766...132,761,823
|
|
G |
HMGXB3 |
HMG-box containing 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:145,425,199...145,478,563
Ensembl chr 5:151,430,444...151,485,025
|
|
G |
HNRNPA0 |
heterogeneous nuclear ribonucleoprotein A0 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:133,132,030...133,140,771
Ensembl chr 5:139,277,004...139,277,939
|
|
G |
HSD17B4 |
hydroxysteroid 17-beta dehydrogenase 4 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:114,842,892...114,928,559
Ensembl chr 5:120,628,605...120,713,860
|
|
G |
HSPA4 |
heat shock protein family A (Hsp70) member 4 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:128,463,186...128,517,563
Ensembl chr 5:134,619,076...134,673,658
|
|
G |
HSPA9 |
heat shock protein family A (Hsp70) member 9 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:133,934,859...133,955,048
Ensembl chr 5:140,064,207...140,084,551
|
|
G |
HTR4 |
5-hydroxytryptamine receptor 4 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:143,918,925...144,208,779
Ensembl chr 5:149,889,969...150,108,357
|
|
G |
IK |
IK cytokine |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,012,381...136,027,099
Ensembl chr 5:142,129,130...142,143,393
|
|
G |
IL13 |
interleukin 13 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548
|
|
G |
IL17B |
interleukin 17B |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:144,800,664...144,842,788
Ensembl chr 5:150,811,055...150,815,930
|
|
G |
IL3 |
interleukin 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:127,483,843...127,486,388
Ensembl chr 5:133,647,667...133,650,213
|
|
G |
IL4 |
interleukin 4 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
|
|
G |
IL5 |
interleukin 5 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:127,955,377...127,961,726
Ensembl chr 5:134,119,608...134,121,675
|
|
G |
IL9 |
interleukin 9 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:131,283,170...131,289,777
Ensembl chr 5:137,425,367...137,428,945
|
|
G |
IRF1 |
interferon regulatory factor 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:127,903,887...127,913,843
Ensembl chr 5:134,067,441...134,075,035
|
|
G |
IRGM |
immunity related GTPase M |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:146,274,097...146,329,979
Ensembl chr 5:152,278,581...152,308,182
|
|
G |
ISOC1 |
isochorismatase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:124,508,166...124,527,560
Ensembl chr 5:130,270,123...130,289,570
|
|
G |
JADE2 |
jade family PHD finger 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:129,929,127...129,986,367
Ensembl chr 5:136,087,999...136,129,929
|
|
G |
JAKMIP2 |
janus kinase and microtubule interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:143,035,340...143,231,371
Ensembl chr 5:149,047,467...149,241,040
|
|
G |
KCNN2 |
potassium calcium-activated channel subfamily N member 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:109,722,916...109,862,747
Ensembl chr 5:115,522,443...115,661,079
|
|
G |
KCTD16 |
potassium channel tetramerization domain containing 16 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:139,570,450...139,879,833
Ensembl chr 5:145,660,618...145,929,945
|
|
G |
KDM3B |
lysine demethylase 3B |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:133,732,400...133,816,988
Ensembl chr 5:139,863,922...139,947,895
|
|
G |
KIAA0825 |
KIAA0825 ortholog |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:20,755,995...21,216,208
Ensembl chr 5:20,930,543...21,352,509
|
|
G |
KIF20A |
kinesin family member 20A |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:133,557,456...133,566,089
Ensembl chr 5:139,690,517...139,699,446
|
|
G |
KIF3A |
kinesin family member 3A |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:128,112,636...128,154,443
Ensembl chr 5:134,274,352...134,315,431
|
|
G |
KLHL3 |
kelch like family member 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:133,005,563...133,276,087
Ensembl chr 5:139,147,793...139,248,919
|
|
G |
LARS1 |
leucyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:141,562,798...141,631,388
Ensembl chr 5:147,578,042...147,646,834
|
|
G |
LEAP2 |
liver enriched antimicrobial peptide 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:128,288,444...128,292,011
Ensembl chr 5:134,448,183...134,452,147
|
|
G |
LECT2 |
leukocyte cell derived chemotaxin 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:131,338,344...131,347,323
Ensembl chr 5:137,478,111...137,486,448
|
|
G |
LIX1 |
limb and CNS expressed 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:92,403,352...92,454,437
Ensembl chr 5:97,957,252...98,008,268
|
|
G |
LMNB1 |
lamin B1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:122,179,513...122,240,848
Ensembl chr 5:127,949,457...128,010,721
|
|
G |
LNPEP |
leucyl and cystinyl aminopeptidase |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:92,247,060...92,348,900
Ensembl chr 5:97,842,110...97,893,876
|
|
G |
LOC100969951 |
histidine--tRNA ligase, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,056,060...136,065,588
Ensembl chr 5:142,172,081...142,179,950
|
|
G |
LOC100974858 |
core histone macro-H2A.1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:130,727,065...130,791,932
Ensembl chr 5:136,868,521...136,933,834
|
|
G |
LOC100981837 |
protocadherin beta-14 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,584,741...136,589,504
Ensembl chr 5:142,700,427...142,712,829
|
|
G |
LOC100983852 |
protocadherin gamma-B7 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,779,117...136,782,629
|
|
G |
LOC100985521 |
serine peptidase inhibitor Kazal type 6 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:143,631,560...143,644,177
Ensembl chr 5:149,639,882...149,652,448
|
|
G |
LOC100987426 |
protocadherin beta-15 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,605,233...136,611,147
Ensembl chr 5:142,721,472...142,723,835
|
|
G |
LOC100987427 |
cytochrome b-c1 complex subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:128,283,869...128,285,010
Ensembl chr 5:134,442,883...134,444,020
|
|
G |
LOC100988105 |
protocadherin beta-6 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,509,096...136,516,640
Ensembl chr 5:142,627,220...142,629,604
|
|
G |
LOC100988774 |
protocadherin beta-7 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,526,139...136,538,754
Ensembl chr 5:142,649,791...142,652,172
|
|
G |
LOC100989435 |
protocadherin beta-13 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,575,453...136,579,906
Ensembl chr 5:142,691,101...142,693,392
|
|
G |
LOC100991137 |
protocadherin beta-12 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,569,617...136,575,312
Ensembl chr 5:142,685,863...142,688,272
|
|
G |
LOC100992160 |
protocadherin alpha-11 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,150,262...136,376,530
Ensembl chr 5:142,321,070...142,488,986
|
|
G |
LOC100994239 |
protocadherin alpha-2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
|
|
G |
LOC100995259 |
protocadherin alpha-7 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
Ensembl chr 5:142,301,336...142,316,338
|
|
G |
LOC103783390 |
protocadherin beta-10 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,545,793...136,558,895
Ensembl chr 5:142,664,256...142,671,880
|
|
G |
LOC103783391 |
protocadherin beta-4 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,484,686...136,489,194
|
|
G |
LOX |
lysyl oxidase |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:117,450,833...117,464,957
Ensembl chr 5:123,234,662...123,248,717
|
|
G |
LRRTM2 |
leucine rich repeat transmembrane neuronal 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:134,247,933...134,254,188
|
|
G |
LVRN |
laeverin |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:111,316,857...111,381,594
Ensembl chr 5:117,113,730...117,178,849
|
|
G |
LYRM7 |
LYR motif containing 7 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:126,599,521...126,629,796
Ensembl chr 5:132,767,112...132,797,409
|
|
G |
LYSMD3 |
LysM domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:24,839,015...24,854,449
Ensembl chr 5:24,974,684...24,988,674
|
|
G |
MACIR |
macrophage immunometabolism regulator |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:98,612,892...98,632,854
Ensembl chr 5:104,330,232...104,330,852
|
|
G |
MAN2A1 |
mannosidase alpha class 2A member 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:105,034,104...105,219,011
Ensembl chr 5:110,841,349...111,025,187
|
|
G |
MARCHF3 |
membrane associated ring-CH-type finger 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:122,271,285...122,436,113
Ensembl chr 5:128,040,683...128,090,477
|
|
G |
MATR3 |
matrin 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:134,664,893...134,702,566
Ensembl chr 5:140,788,709...140,825,064
|
|
G |
MBLAC2 |
metallo-beta-lactamase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:24,895,973...24,912,512
Ensembl chr 5:25,030,097...25,046,646
|
|
G |
MCC |
MCC regulator of WNT signaling pathway |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:108,382,066...108,845,503
Ensembl chr 5:114,184,907...114,647,847
|
|
G |
MCTP1 |
multiple C2 and transmembrane domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:20,071,072...20,669,826
Ensembl chr 5:20,215,917...20,808,014
|
|
G |
MEF2C |
myocyte enhancer factor 2C |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:26,480,489...26,650,813
Ensembl chr 5:26,681,700...26,786,426
|
|
G |
MEGF10 |
multiple EGF like domains 10 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:122,639,155...122,877,324
Ensembl chr 5:128,466,095...128,641,043
|
|
G |
MFAP3 |
microfibril associated protein 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:149,440,427...149,458,929
Ensembl chr 5:155,438,476...155,456,890
|
|
G |
MINAR2 |
membrane integral NOTCH2 associated receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:125,163,230...125,182,801
Ensembl chr 5:131,335,020...131,353,934
|
|
G |
MYOT |
myotilin |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:133,254,644...133,274,615
Ensembl chr 5:139,386,101...139,411,960
|
|
G |
MYOZ3 |
myozenin 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:146,087,215...146,103,669
Ensembl chr 5:152,089,327...152,107,738
|
|
G |
MZB1 |
marginal zone B and B1 cell specific protein |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:134,758,631...134,772,992
Ensembl chr 5:140,881,415...140,883,756
|
|
G |
NDFIP1 |
Nedd4 family interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:137,467,161...137,511,569
Ensembl chr 5:143,600,789...143,622,913
|
|
G |
NDST1 |
N-deacetylase and N-sulfotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:145,910,993...145,982,933
Ensembl chr 5:151,936,357...151,986,668
|
|
G |
NDUFA2 |
NADH:ubiquinone oxidoreductase subunit A2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,010,029...136,012,373
|
|
G |
NEUROG1 |
neurogenin 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:130,922,727...130,924,403
Ensembl chr 5:137,064,339...137,065,052
|
|
G |
NME5 |
NME/NM23 family member 5 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:133,493,930...133,517,906
Ensembl chr 5:139,628,678...139,651,372
|
|
G |
NMUR2 |
neuromedin U receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:147,811,260...147,825,659
Ensembl chr 5:153,811,055...153,827,176
|
|
G |
NR2F1 |
nuclear receptor subfamily 2 group F member 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:21,773,283...21,785,746
Ensembl chr 5:21,910,463...21,918,776
|
|
G |
NR3C1 |
nuclear receptor subfamily 3 group C member 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269
|
|
G |
NREP |
neuronal regeneration related protein |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:107,089,968...107,118,919
|
|
G |
NRG2 |
neuregulin 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:135,212,496...135,411,469
|
|
G |
NUDT12 |
nudix hydrolase 12 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:98,903,740...98,917,763
Ensembl chr 5:104,601,373...104,617,925
|
|
G |
P4HA2 |
prolyl 4-hydroxylase subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:127,613,037...127,650,647
Ensembl chr 5:133,778,520...133,813,779
|
|
G |
PAIP2 |
poly(A) binding protein interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:134,712,834...134,740,747
Ensembl chr 5:140,835,320...140,862,743
|
|
G |
PAM |
peptidylglycine alpha-amidating monooxygenase |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:98,104,058...98,385,157
Ensembl chr 5:103,913,456...104,085,774
|
|
G |
PCBD2 |
pterin-4 alpha-carbinolamine dehydratase 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:130,303,900...130,364,899
Ensembl chr 5:136,446,730...136,497,011
|
|
G |
PCDH1 |
protocadherin 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:137,209,537...137,237,977
Ensembl chr 5:143,324,641...143,345,042
|
|
G |
PCDH12 |
protocadherin 12 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:137,305,110...137,324,879
Ensembl chr 5:143,414,064...143,429,540
|
|
G |
PCDHA10 |
protocadherin alpha 10 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
|
|
G |
PCDHA11 |
protocadherin alpha 11 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
Ensembl chr 5:142,348,847...142,366,618
|
|
G |
PCDHA12 |
protocadherin alpha 12 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
|
|
G |
PCDHA13 |
protocadherin alpha 13 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
|
|
G |
PCDHA3 |
protocadherin alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
Ensembl chr 5:142,280,707...142,283,181
|
|
G |
PCDHA4 |
protocadherin alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
Ensembl chr 5:142,286,433...142,289,088
|
|
G |
PCDHAC1 |
protocadherin alpha subfamily C, 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
|
|
G |
PCDHAC2 |
protocadherin alpha subfamily C, 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
|
|
G |
PCDHB1 |
protocadherin beta 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,413,938...136,423,568
Ensembl chr 5:142,530,521...142,532,977
|
|
G |
PCDHB11 |
protocadherin beta 11 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,562,547...136,565,623
|
|
G |
PCDHB2 |
protocadherin beta 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,458,253...136,463,369
Ensembl chr 5:142,572,690...142,574,838
|
|
G |
PCDHB3 |
protocadherin beta 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,463,492...136,467,739
Ensembl chr 5:142,578,291...142,580,681
|
|
G |
PCDHB5 |
protocadherin beta 5 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,498,492...136,501,496
Ensembl chr 5:142,612,509...142,614,896
|
|
G |
PCDHB8 |
protocadherin beta 8 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,538,882...136,543,805
Ensembl chr 5:142,654,990...142,657,395
|
|
G |
PCSK1 |
proprotein convertase subtilisin/kexin type 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:18,917,488...18,960,102
Ensembl chr 5:19,064,004...19,106,486
|
|
G |
PCYOX1L |
prenylcysteine oxidase 1 like |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:144,784,406...144,796,053
Ensembl chr 5:150,794,794...150,806,452
|
|
G |
PDE6A |
phosphodiesterase 6A |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:145,283,505...145,369,596
Ensembl chr 5:151,294,041...151,375,832
|
|
G |
PDGFRB |
platelet derived growth factor receptor beta |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530
|
|
G |
PDLIM4 |
PDZ and LIM domain 4 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:127,680,339...127,696,172
Ensembl chr 5:133,843,313...133,857,935
|
|
G |
PFDN1 |
prefoldin subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:135,611,791...135,669,895
Ensembl chr 5:141,729,128...141,786,822
|
|
G |
PGGT1B |
protein geranylgeranyltransferase type I subunit beta |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:110,558,684...110,622,175
Ensembl chr 5:116,366,984...116,419,069
|
|
G |
PHAX |
phosphorylated adaptor for RNA export |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:122,005,976...122,032,326
Ensembl chr 5:127,776,529...127,803,619
|
|
G |
PITX1 |
paired like homeodomain 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:130,422,920...130,429,828
Ensembl chr 5:136,565,285...136,570,350
|
|
G |
PJA2 |
praja ring finger ubiquitin ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:104,688,464...104,759,669
Ensembl chr 5:110,497,245...110,541,354
|
|
G |
PKD2L2 |
polycystin 2 like 2, transient receptor potential cation channel |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:133,276,223...133,329,712
Ensembl chr 5:139,416,606...139,459,732
|
|
G |
PLAC8L1 |
PLAC8 like 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:141,533,540...141,555,106
Ensembl chr 5:147,548,249...147,568,269
|
|
G |
POLR3G |
RNA polymerase III subunit G |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:24,855,517...24,896,051
Ensembl chr 5:24,992,158...25,019,272
|
|
G |
POU4F3 |
POU class 4 homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:141,786,048...141,789,078
Ensembl chr 5:147,800,924...147,802,420
|
|
G |
POU5F2 |
POU domain class 5, transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:21,624,172...21,627,395
Ensembl chr 5:21,763,211...21,764,197
|
|
G |
PPARGC1B |
PPARG coactivator 1 beta |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:145,154,517...145,315,567
Ensembl chr 5:151,203,088...151,278,837
|
|
G |
PPIC |
peptidylprolyl isomerase C |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:118,415,061...118,428,438
Ensembl chr 5:124,195,133...124,208,527
|
|
G |
PPIP5K2 |
diphosphoinositol pentakisphosphate kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:98,475,410...98,558,189
Ensembl chr 5:104,175,883...104,258,688
|
|
G |
PPP2CA |
protein phosphatase 2 catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:129,599,606...129,629,312
Ensembl chr 5:135,751,958...135,765,786
|
|
G |
PPP2R2B |
protein phosphatase 2 regulatory subunit Bbeta |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:142,037,831...142,521,655
Ensembl chr 5:148,050,581...148,533,329
|
|
G |
PRDM6 |
PR/SET domain 6 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:118,481,141...118,580,190
|
|
G |
PRELID2 |
PRELI domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:141,156,705...141,284,898
Ensembl chr 5:147,169,209...147,300,018
|
|
G |
PROB1 |
proline rich basic protein 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:134,761,660...134,767,557
Ensembl chr 5:140,885,875...140,888,922
|
|
G |
PRR16 |
proline rich 16 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:115,855,843...116,184,098
Ensembl chr 5:121,642,072...121,863,501
|
|
G |
PRRC1 |
proline rich coiled-coil 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:122,932,993...122,970,504
Ensembl chr 5:128,696,467...128,733,922
|
|
G |
PSD2 |
pleckstrin and Sec7 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:135,162,701...135,211,389
Ensembl chr 5:141,294,395...141,329,952
|
|
G |
PURA |
purine rich element binding protein A |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:135,541,865...135,610,526
Ensembl chr 5:141,659,224...141,727,870 Ensembl chr 5:141,659,224...141,727,870
|
|
G |
RAD50 |
RAD50 double strand break repair protein |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:127,972,630...128,059,911
Ensembl chr 5:134,134,495...134,222,261
|
|
G |
RAPGEF6 |
Rap guanine nucleotide exchange factor 6 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:126,852,474...127,064,421
Ensembl chr 5:133,018,249...133,228,851
|
|
G |
RASA1 |
RAS p21 protein activator 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321
|
|
G |
RBM22 |
RNA binding motif protein 22 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:146,115,077...146,125,383
Ensembl chr 5:152,118,945...152,129,261
|
|
G |
RBM27 |
RNA binding motif protein 27 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:141,651,921...141,736,469
Ensembl chr 5:147,666,510...147,751,217
|
|
G |
REEP2 |
receptor accessory protein 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:133,819,005...133,826,930
Ensembl chr 5:139,949,903...139,959,112
|
|
G |
REEP5 |
receptor accessory protein 5 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:11257105 PMID:12136240 PMID:14672538 PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:108,236,654...108,280,724
|
|
G |
RELL2 |
RELT like 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,997,811...137,002,695
Ensembl chr 5:143,110,359...143,118,157
|
|
G |
RFESD |
Rieske Fe-S domain containing |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:19,692,054...19,702,479
|
|
G |
RGMB |
repulsive guidance molecule BMP co-receptor b |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:94,080,200...94,107,441
Ensembl chr 5:99,639,527...99,661,904
|
|
G |
RHOBTB3 |
Rho related BTB domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:19,552,740...19,618,055
Ensembl chr 5:19,698,304...19,763,363
|
|
G |
RIOK2 |
RIO kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:92,473,239...92,494,763
Ensembl chr 5:98,028,426...98,048,256
|
|
G |
RNF14 |
ring finger protein 14 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:137,316,493...137,351,061
Ensembl chr 5:143,441,497...143,461,355
|
|
G |
RPS14 |
ribosomal protein S14 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:145,869,410...145,875,038
Ensembl chr 5:151,873,605...151,879,128
|
|
G |
SAP30L |
SAP30 like |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:149,847,937...149,863,052
Ensembl chr 5:155,846,866...155,856,273
|
|
G |
SAR1B |
secretion associated Ras related GTPase 1B |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:130,008,941...130,035,785
Ensembl chr 5:136,157,408...136,181,967
|
|
G |
SCGB3A2 |
secretoglobin family 3A member 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:143,319,941...143,323,625
Ensembl chr 5:149,329,201...149,333,003
|
|
G |
SEC24A |
SEC24 homolog A, COPII coat complex component |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:130,050,625...130,128,212
Ensembl chr 5:136,197,746...136,273,158
|
|
G |
SEMA6A |
semaphorin 6A |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:111,793,272...111,924,937
Ensembl chr 5:117,592,313...117,651,098
|
|
G |
SEPTIN8 |
septin 8 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:128,167,699...128,194,750
Ensembl chr 5:134,327,735...134,355,677
|
|
G |
SH3RF2 |
SH3 domain containing ring finger 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:141,386,060...141,530,993
Ensembl chr 5:147,401,188...147,545,703
|
|
G |
SH3TC2 |
SH3 domain and tetratricopeptide repeats 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:144,412,449...144,490,183
Ensembl chr 5:150,438,976...150,498,354
|
|
G |
SHROOM1 |
shroom family member 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:128,239,510...128,248,978
Ensembl chr 5:134,399,573...134,402,786
|
|
G |
SIL1 |
SIL1 nucleotide exchange factor |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:134,325,451...134,573,398
Ensembl chr 5:140,450,891...140,628,703
|
|
G |
SKIC3 |
SKI3 subunit of superkiller complex |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:19,794,151...19,892,000
Ensembl chr 5:19,939,324...20,036,558
|
|
G |
SKP1 |
S-phase kinase associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:129,560,086...129,580,188
Ensembl chr 5:135,713,085...135,729,653
|
|
G |
SLC12A2 |
solute carrier family 12 member 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:123,499,267...123,603,777
Ensembl chr 5:129,262,134...129,364,563
|
|
G |
SLC22A4 |
solute carrier family 22 member 4 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:127,717,077...127,766,793
Ensembl chr 5:133,879,387...133,929,439
|
|
G |
SLC22A5 |
solute carrier family 22 member 5 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:127,791,984...127,817,870
Ensembl chr 5:133,954,678...133,979,066
|
|
G |
SLC23A1 |
solute carrier family 23 member 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:134,737,344...134,756,153
Ensembl chr 5:140,859,984...140,877,214
|
|
G |
SLC25A2 |
solute carrier family 25 member 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,664,485...136,666,344
|
|
G |
SLC25A46 |
solute carrier family 25 member 46 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:106,106,112...106,132,355
Ensembl chr 5:111,908,842...111,935,029
|
|
G |
SLC25A48 |
solute carrier family 25 member 48 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:131,227,723...131,281,708
Ensembl chr 5:137,367,729...137,421,754
|
|
G |
SLC26A2 |
solute carrier family 26 member 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:145,385,433...145,412,180
Ensembl chr 5:151,391,842...151,412,676
|
|
G |
SLC27A6 |
solute carrier family 27 member 6 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:124,378,721...124,447,729
Ensembl chr 5:130,140,967...130,212,940
|
|
G |
SLC35A4 |
solute carrier family 35 member A4 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
|
|
G |
SLC36A1 |
solute carrier family 36 member 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:146,870,427...147,080,893
Ensembl chr 5:152,874,114...152,919,034
|
|
G |
SLC36A2 |
solute carrier family 36 member 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
Ensembl chr 5:152,744,831...152,775,431
|
|
G |
SLC36A3 |
solute carrier family 36 member 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:146,703,628...146,774,744
Ensembl chr 5:152,704,142...152,731,899
|
|
G |
SLC4A9 |
solute carrier family 4 member 9 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:135,725,067...135,750,666
Ensembl chr 5:141,844,078...141,861,739
|
|
G |
SLC6A7 |
solute carrier family 6 member 7 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:145,614,286...145,635,345
Ensembl chr 5:151,619,288...151,652,149
|
|
G |
SLCO4C1 |
solute carrier organic anion transporter family member 4C1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:97,580,977...97,643,539
Ensembl chr 5:103,284,947...103,344,320
|
|
G |
SLCO6A1 |
solute carrier organic anion transporter family member 6A1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:97,718,786...97,847,425
Ensembl chr 5:103,419,757...103,546,724
|
|
G |
SLF1 |
SMC5-SMC6 complex localization factor 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:20,660,101...20,757,072
Ensembl chr 5:20,817,614...20,884,453
|
|
G |
SMAD5 |
SMAD family member 5 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:131,524,229...131,574,119
Ensembl chr 5:137,664,067...137,712,635
|
|
G |
SMIM3 |
small integral membrane protein 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:146,205,710...146,224,486
Ensembl chr 5:152,226,073...152,226,255
|
|
G |
SNCAIP |
synuclein alpha interacting protein |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:117,692,836...117,847,221
Ensembl chr 5:123,555,073...123,630,921
|
|
G |
SNX2 |
sorting nexin 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:118,165,097...118,221,620
Ensembl chr 5:123,946,292...124,004,145
|
|
G |
SNX24 |
sorting nexin 24 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:118,236,231...118,420,953
|
|
G |
SOWAHA |
sosondowah ankyrin repeat domain family member A |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:128,230,681...128,234,171
Ensembl chr 5:134,390,446...134,392,075
|
|
G |
SPARC |
secreted protein acidic and cysteine rich |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:147,087,903...147,112,466
Ensembl chr 5:153,090,181...153,115,750
|
|
G |
SPATA24 |
spermatogenesis associated 24 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:134,767,828...134,775,171
Ensembl chr 5:140,890,610...140,897,927
|
|
G |
SPATA9 |
spermatogenesis associated 9 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:19,665,823...19,692,040
Ensembl chr 5:19,811,545...19,839,138
|
|
G |
SPINK1 |
serine peptidase inhibitor Kazal type 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:143,273,137...143,287,745
|
|
G |
SPINK13 |
serine peptidase inhibitor Kazal type 13 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:143,692,686...143,713,035
Ensembl chr 5:149,702,870...149,721,406
|
|
G |
SPINK14 |
serine peptidase inhibitor Kazal type 14 (putative) |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:143,598,502...143,604,524
Ensembl chr 5:149,606,819...149,612,784
|
|
G |
SPINK5 |
serine peptidase inhibitor Kazal type 5 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:143,387,981...143,578,839
Ensembl chr 5:149,506,367...149,590,930
|
|
G |
SPINK7 |
serine peptidase inhibitor Kazal type 7 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:143,739,292...143,742,788
Ensembl chr 5:149,748,127...149,751,615
|
|
G |
SPINK9 |
serine peptidase inhibitor Kazal type 9 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:143,746,900...143,766,766
|
|
G |
SPMIP10 |
sperm microtubule inner protein 10 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:122,036,540...122,041,382
Ensembl chr 5:127,808,143...127,812,790
|
|
G |
SPOCK1 |
SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:132,372,283...132,890,168
Ensembl chr 5:138,512,523...138,797,416
|
|
G |
SPRY4 |
sprouty RTK signaling antagonist 4 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:137,667,280...137,683,578
Ensembl chr 5:143,778,785...143,791,939
|
|
G |
SRA1 |
steroid receptor RNA activator 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:135,914,506...135,922,704
Ensembl chr 5:142,032,119...142,039,188
|
|
G |
SRFBP1 |
serum response factor binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:117,351,025...117,417,546
Ensembl chr 5:123,134,896...123,196,844
|
|
G |
SRP19 |
signal recognition particle 19 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:11257105 PMID:12136240 PMID:14672538 PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:108,221,482...108,251,955
Ensembl chr 5:114,024,636...114,031,845
|
|
G |
ST8SIA4 |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:96,125,853...96,225,309
Ensembl chr 5:101,795,939...101,891,029
|
|
G |
STARD4 |
StAR related lipid transfer domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:106,855,990...106,873,384
Ensembl chr 5:112,657,516...112,675,165
|
|
G |
STING1 |
stimulator of interferon response cGAMP interactor 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:134,845,689...134,852,938
Ensembl chr 5:140,967,399...140,973,846
|
|
G |
STK11 |
serine/threonine kinase 11 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:25741868 |
|
Ensembl chr19:1,188,537...1,210,677
|
|
G |
STK32A |
serine/threonine kinase 32A |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:142,683,261...142,868,491
Ensembl chr 5:148,694,879...148,844,508
|
|
G |
SYNPO |
synaptopodin |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:146,048,956...146,083,490
Ensembl chr 5:152,046,207...152,085,595
|
|
G |
TAF7 |
TATA-box binding protein associated factor 7 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,680,554...136,682,862
|
|
G |
TCERG1 |
transcription elongation regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:141,895,031...141,959,180
Ensembl chr 5:147,908,980...147,972,277
|
|
G |
TCF7 |
transcription factor 7 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:129,518,134...129,549,972
Ensembl chr 5:135,671,095...135,702,734
|
|
G |
TCOF1 |
treacle ribosome biogenesis factor 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:145,781,915...145,824,312
Ensembl chr 5:151,786,944...151,825,549
|
|
G |
TGFBI |
transforming growth factor beta induced |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:131,420,403...131,455,265
Ensembl chr 5:137,559,321...137,596,392
|
|
G |
TICAM2 |
TIR domain containing adaptor molecule 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:110,935,649...110,960,019
Ensembl chr 5:116,734,092...116,734,799
|
|
G |
TIFAB |
TIFA inhibitor |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:130,836,697...130,846,050
Ensembl chr 5:136,983,040...136,983,525
|
|
G |
TIGD6 |
tigger transposable element derived 6 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:145,417,903...145,425,937
Ensembl chr 5:151,425,306...151,426,871
|
|
G |
TMCO6 |
transmembrane and coiled-coil domains 6 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,003,993...136,009,960
Ensembl chr 5:142,120,756...142,126,727
|
|
G |
TMED7 |
transmembrane p24 trafficking protein 7 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:110,970,162...110,983,414
Ensembl chr 5:116,766,470...116,779,513
|
|
G |
TMEM161B |
transmembrane protein 161B |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:27,098,380...27,181,742
Ensembl chr 5:27,233,758...27,310,581
|
|
G |
TMEM232 |
transmembrane protein 232 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:105,772,862...106,035,291
Ensembl chr 5:111,695,515...111,837,665
|
|
G |
TNFAIP8 |
TNF alpha induced protein 8 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:114,657,140...114,784,819
Ensembl chr 5:120,442,500...120,569,877
|
|
G |
TNIP1 |
TNFAIP3 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:146,457,347...146,514,515
Ensembl chr 5:152,459,868...152,510,540
|
|
G |
TRIM36 |
tripartite motif containing 36 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:110,481,462...110,540,949
Ensembl chr 5:116,279,587...116,335,848
|
|
G |
TRPC7 |
transient receptor potential cation channel subfamily C member 7 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:131,604,175...131,756,944
Ensembl chr 5:137,743,638...137,896,107
|
|
G |
TSLP |
thymic stromal lymphopoietin |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:106,440,136...106,446,849
Ensembl chr 5:112,242,490...112,250,130
|
|
G |
TSSK1B |
testis specific serine kinase 1B |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:108,790,115...108,794,426
|
|
G |
TXNDC15 |
thioredoxin domain containing 15 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:130,275,685...130,301,164
Ensembl chr 5:136,417,859...136,443,185
|
|
G |
UBE2B |
ubiquitin conjugating enzyme E2 B |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:129,775,011...129,794,853
Ensembl chr 5:135,925,217...135,944,609
|
|
G |
UBE2D2 |
ubiquitin conjugating enzyme E2 D2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:134,927,150...134,995,298
Ensembl chr 5:141,048,385...141,115,842
|
|
G |
VDAC1 |
voltage dependent anion channel 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:129,375,267...129,408,230
Ensembl chr 5:135,529,173...135,560,005
|
|
G |
WDR36 |
WD repeat domain 36 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:106,461,658...106,499,837
Ensembl chr 5:112,264,403...112,302,549
|
|
G |
WDR55 |
WD repeat domain 55 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,029,221...136,037,015
Ensembl chr 5:142,145,749...142,152,992
|
|
G |
WNT8A |
Wnt family member 8A |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:133,419,324...133,471,094
Ensembl chr 5:139,598,229...139,605,926
|
|
G |
YIPF5 |
Yip1 domain family member 5 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:139,557,911...139,570,364
Ensembl chr 5:145,612,807...145,625,280
|
|
G |
YTHDC2 |
YTH N6-methyladenosine RNA binding protein C2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:108,870,417...108,951,848
Ensembl chr 5:114,672,839...114,754,153
|
|
G |
ZCCHC10 |
zinc finger CCHC-type containing 10 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:128,408,266...128,437,925
Ensembl chr 5:134,564,911...134,594,353
|
|
G |
ZMAT2 |
zinc finger matrin-type 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:136,065,016...136,071,333
Ensembl chr 5:142,180,981...142,187,292
|
|
G |
ZNF300 |
zinc finger protein 300 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:146,321,953...146,332,550
Ensembl chr 5:152,324,546...152,335,155
|
|
G |
ZNF474 |
zinc finger protein 474 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:117,465,709...117,540,456
Ensembl chr 5:123,321,845...123,322,939
|
|
G |
ZNF608 |
zinc finger protein 608 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 1 |
ClinVar |
PMID:17963004 PMID:18487285 PMID:19279422 PMID:19409520 PMID:20685668 PMID:21643010 PMID:28492532 More...
|
|
NCBI chr 5:120,027,450...120,139,537
Ensembl chr 5:125,801,659...125,914,508
|
|
|
G |
BARD1 |
BRCA1 associated RING domain 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 2 |
ClinVar |
PMID:25186627 PMID:25741868 PMID:26315354 PMID:26467025 PMID:27443514 PMID:28492532 PMID:29596542 PMID:32268276 PMID:33118316 PMID:33471991 More...
|
|
NCBI chr2B:101,984,287...102,068,523
Ensembl chr2B:220,456,972...220,541,145
|
|
G |
EIF2B3 |
eukaryotic translation initiation factor 2B subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,154,600...44,290,407
Ensembl chr 1:45,525,137...45,650,259
|
|
G |
HECTD3 |
HECT domain E3 ubiquitin protein ligase 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,306,327...44,315,131
Ensembl chr 1:45,670,302...45,678,916
|
|
G |
HPDL |
4-hydroxyphenylpyruvate dioxygenase like |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 2 |
ClinVar |
PMID:16557584 PMID:17949294 PMID:19806110 PMID:25820570 PMID:28492532 |
|
NCBI chr 1:44,629,560...44,631,394
Ensembl chr 1:45,988,494...45,989,609
|
|
G |
MUTYH |
mutY DNA glycosylase |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 2 | ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis |
OMIM ClinVar |
PMID:166460 PMID:186631 PMID:517270 PMID:545764 PMID:2084865 PMID:9536098 PMID:9846876 PMID:10612827 PMID:11051386 PMID:11092888 PMID:11295288 PMID:11433026 PMID:11801590 PMID:11805113 PMID:11818965 PMID:11864576 PMID:12056405 PMID:12393807 PMID:12606733 PMID:12707038 PMID:12853198 PMID:12917422 PMID:14579148 PMID:14618256 PMID:14633673 PMID:14991577 PMID:14999774 PMID:15034862 PMID:15036665 PMID:15180946 PMID:15188161 PMID:15236166 PMID:15273732 PMID:15326180 PMID:15366000 PMID:15465463 PMID:15635083 PMID:15673720 PMID:15690400 PMID:15761860 PMID:15890374 PMID:15931596 PMID:15943555 PMID:15987719 PMID:16042573 PMID:16134146 PMID:16134147 PMID:16140997 PMID:16199547 PMID:16207212 PMID:16234049 PMID:16287072 PMID:16338133 PMID:16408224 PMID:16455870 PMID:16492921 PMID:16557584 PMID:16616356 PMID:16645203 PMID:16774938 PMID:16890597 PMID:16929514 PMID:16941501 PMID:16996809 PMID:17031395 PMID:17081686 PMID:17122612 PMID:17161978 PMID:17207658 PMID:17219385 PMID:17252231 PMID:17273161 PMID:17368238 PMID:17369389 PMID:17489848 PMID:17524638 PMID:17576681 PMID:17581577 PMID:17674103 PMID:17703316 PMID:17874208 PMID:17931073 PMID:17949294 PMID:17956577 PMID:18091433 PMID:18172263 PMID:18271935 PMID:18294051 PMID:18301448 PMID:18414213 PMID:18422726 PMID:18433509 PMID:18495334 PMID:18506705 PMID:18515411 PMID:18534194 PMID:18564191 PMID:18776649 PMID:18787472 PMID:18811933 PMID:18992148 PMID:19031083 PMID:19032956 PMID:19245865 PMID:19279422 PMID:19300419 PMID:19394335 PMID:19414147 PMID:19443904 PMID:19479711 PMID:19506731 PMID:19527492 PMID:19531215 PMID:19620482 PMID:19725997 PMID:19732775 PMID:19793053 PMID:19806110 PMID:19836313 PMID:19841264 PMID:19953527 PMID:19998059 PMID:20110747 PMID:20149637 PMID:20191381 PMID:20223003 PMID:20418187 PMID:20571908 PMID:20618354 PMID:20628285 PMID:20663686 PMID:20687945 PMID:20725929 PMID:20816984 PMID:20848659 PMID:21061173 PMID:21063410 PMID:21078199 PMID:21153778 PMID:21167187 PMID:21171015 PMID:21178863 PMID:21195604 PMID:21235684 PMID:21287799 PMID:21424714 PMID:21443744 PMID:21520333 PMID:21777424 PMID:21815886 PMID:21901162 PMID:21952991 PMID:21962078 PMID:22158503 PMID:22252118 PMID:22266422 PMID:22297469 PMID:22402879 PMID:22473953 PMID:22538434 PMID:22641385 PMID:22703879 PMID:22722201 PMID:22744763 PMID:22773231 PMID:22865608 PMID:22922830 PMID:22926731 PMID:22976915 PMID:23007840 PMID:23035301 PMID:23108399 PMID:23322991 PMID:23361220 PMID:23383274 PMID:23460355 PMID:23507534 PMID:23561487 PMID:23599153 PMID:23605219 PMID:23621914 PMID:23625202 PMID:23677194 PMID:23729658 PMID:23805267 PMID:23820649 PMID:24033266 PMID:24039736 PMID:24082139 PMID:24278394 PMID:24377541 PMID:24444654 PMID:24470512 PMID:24556621 PMID:24569162 PMID:24691292 PMID:24728327 PMID:24733792 PMID:24763289 PMID:24799981 PMID:24834277 PMID:24953332 PMID:25151137 PMID:25186627 PMID:25197429 PMID:25307848 PMID:25318351 PMID:25326637 PMID:25368107 PMID:25503501 PMID:25525159 PMID:25559809 PMID:25569433 PMID:25590978 PMID:25637381 PMID:25640679 PMID:25741868 PMID:25820570 PMID:25856671 PMID:25892863 PMID:25927356 PMID:25937855 PMID:25938944 PMID:25957691 PMID:25980754 PMID:25995449 PMID:26138249 PMID:26202870 PMID:26269718 PMID:26296696 PMID:26300997 PMID:26332594 PMID:26377631 PMID:26414517 PMID:26436112 PMID:26446593 PMID:26467025 PMID:26511139 PMID:26517685 PMID:26556299 PMID:26580448 PMID:26600934 PMID:26615199 PMID:26632267 PMID:26673696 PMID:26681312 PMID:26684149 PMID:26684191 PMID:26689913 PMID:26694661 PMID:26822237 PMID:26824983 PMID:26832770 PMID:26837502 PMID:26845104 PMID:26900293 PMID:26902849 PMID:26944241 PMID:26947005 PMID:26976419 PMID:27014339 PMID:27077130 PMID:27145315 PMID:27153395 PMID:27194394 PMID:27276934 PMID:27377421 PMID:27443514 PMID:27600092 PMID:27631816 PMID:27696107 PMID:27705013 PMID:27720647 PMID:27732944 PMID:27783336 PMID:27797849 PMID:27799157 PMID:27829682 PMID:27870730 PMID:27878467 PMID:27978560 PMID:28087410 PMID:28127763 PMID:28130451 PMID:28135048 PMID:28135145 PMID:28141798 PMID:28152038 PMID:28166811 PMID:28195393 PMID:28199314 PMID:28202063 PMID:28243543 PMID:28251689 PMID:28332257 PMID:28349240 PMID:28445943 PMID:28491533 PMID:28492532 PMID:28495237 PMID:28502729 PMID:28503720 PMID:28526081 PMID:28533537 PMID:28551381 PMID:28577310 PMID:28608266 PMID:28634180 PMID:28644590 PMID:28687356 PMID:28709830 PMID:28717660 PMID:28726808 PMID:28790112 PMID:28861346 PMID:28873161 PMID:28873162 PMID:28944238 PMID:28961279 PMID:29093764 PMID:29147111 PMID:29192238 PMID:29212164 PMID:29330641 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29406563 PMID:29431110 PMID:29458332 PMID:29478780 PMID:29484706 PMID:29506128 PMID:29557500 PMID:29610499 PMID:29625052 PMID:29641532 PMID:29667044 PMID:29684080 PMID:29700634 PMID:29754767 PMID:29766397 PMID:29785153 PMID:29879026 PMID:29915346 PMID:29954149 PMID:29967336 PMID:29978187 PMID:30067863 PMID:30093976 PMID:30098577 PMID:30122538 PMID:30151275 PMID:30151276 PMID:30256826 PMID:30267214 PMID:30291343 PMID:30306255 PMID:30309722 PMID:30322717 PMID:30333958 PMID:30357411 PMID:30374176 PMID:30487145 PMID:30564557 PMID:30582135 PMID:30604180 PMID:30609409 PMID:30613976 PMID:30620386 PMID:30666091 PMID:30675318 PMID:30676620 PMID:30680046 PMID:30702970 PMID:30719162 PMID:30787465 PMID:30833417 PMID:30833958 PMID:30836094 PMID:30850667 PMID:30852976 PMID:30877237 PMID:30886832 PMID:30927264 PMID:30953464 PMID:30982232 PMID:31062380 PMID:31090900 PMID:31104418 PMID:31159747 PMID:31203172 PMID:31214250 PMID:31220976 PMID:31263571 PMID:31273614 PMID:31277343 PMID:31285513 PMID:31350202 PMID:31360874 PMID:31422818 PMID:31447099 PMID:31465090 PMID:31512090 PMID:31575519 PMID:31589614 PMID:31618753 PMID:31666926 PMID:31687339 PMID:31739127 PMID:31742824 PMID:31744909 PMID:31780696 PMID:31829624 PMID:31867841 PMID:31921681 PMID:31942411 PMID:31970404 PMID:31980526 PMID:32029870 PMID:32066632 PMID:32068069 PMID:32072083 PMID:32088803 PMID:32133419 PMID:32231684 PMID:32255556 PMID:32283892 PMID:32338768 PMID:32390558 PMID:32390703 PMID:32570879 PMID:32615015 PMID:32658311 PMID:32665031 PMID:32720237 PMID:32761968 PMID:32782288 PMID:32821650 PMID:32830346 PMID:32854451 PMID:32868316 PMID:32885271 PMID:32888815 PMID:32904697 PMID:32906206 PMID:32923874 PMID:32973888 PMID:32980694 PMID:32984025 PMID:33011440 PMID:33024574 PMID:33062672 PMID:33077847 PMID:33087929 PMID:33094510 PMID:33130102 PMID:33134171 PMID:33193653 PMID:33194656 PMID:33223521 PMID:33230973 PMID:33258288 PMID:33309985 PMID:33313162 PMID:33332384 PMID:33343895 PMID:33359728 PMID:33383211 PMID:33384714 PMID:33414168 PMID:33436027 PMID:33442023 PMID:33471974 PMID:33471991 PMID:33504652 PMID:33553733 PMID:33558524 PMID:33563768 PMID:33606809 PMID:33748650 PMID:33785725 PMID:33858029 PMID:33878367 PMID:33901219 PMID:33939675 PMID:33980423 PMID:34026625 PMID:34034685 PMID:34250417 PMID:34259353 PMID:34271781 PMID:34285288 PMID:34308366 PMID:34326862 PMID:34347074 PMID:34371384 PMID:34404389 PMID:34426522 PMID:34428338 PMID:34506673 PMID:34598035 PMID:34621001 PMID:34659905 PMID:34680878 PMID:34687117 PMID:34704405 PMID:34716202 PMID:34775073 PMID:34816434 PMID:34897210 PMID:34981295 PMID:34994648 PMID:35089076 PMID:35098669 PMID:35205332 PMID:35238777 PMID:35264596 PMID:35273153 PMID:35430768 PMID:35534218 PMID:35534704 PMID:35535697 PMID:35545820 PMID:35628513 PMID:35668106 PMID:35712480 PMID:35734982 PMID:35980532 PMID:36035419 PMID:36119527 PMID:36135357 PMID:36243179 PMID:36368126 PMID:36672847 PMID:36988593 PMID:37201251 More...
|
|
NCBI chr 1:44,632,102...44,643,292
Ensembl chr 1:45,990,588...46,002,645
|
|
G |
PTCH2 |
patched 2 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,125,693...44,147,462
Ensembl chr 1:45,490,789...45,513,055
|
|
G |
STK11 |
serine/threonine kinase 11 |
|
ISO |
ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28135145 PMID:28492532 PMID:33471991 |
|
Ensembl chr19:1,188,537...1,210,677
|
|
G |
TOE1 |
target of EGR1, exonuclease |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 2 |
ClinVar |
PMID:9536098 PMID:12056405 PMID:14618256 PMID:16199547 PMID:16408224 PMID:17576681 PMID:18271935 PMID:18534194 PMID:19725997 PMID:20663686 PMID:20725929 PMID:22473953 PMID:25186627 PMID:25741868 PMID:26467025 PMID:27720647 PMID:28492532 PMID:28644590 PMID:36988593 More...
|
|
NCBI chr 1:44,642,812...44,646,808
Ensembl chr 1:46,000,713...46,005,279
|
|
G |
UROD |
uroporphyrinogen decarboxylase |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,315,912...44,319,356
Ensembl chr 1:45,679,744...45,683,185
|
|
G |
VDR |
vitamin D receptor |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 2 |
ClinVar |
PMID:17970811 PMID:25741868 |
|
NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
|
|
G |
ZSWIM5 |
zinc finger SWIM-type containing 5 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:44,320,200...44,507,023
Ensembl chr 1:45,686,060...45,867,309
|
|
|
G |
NTHL1 |
nth like DNA glycosylase 1 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 3 | ClinVar Annotator: match by term: NTHL1-related condition |
OMIM ClinVar |
PMID:9536098 PMID:9705289 PMID:12840008 PMID:16199547 PMID:17576681 PMID:18515411 PMID:20054297 PMID:21167187 PMID:23852950 PMID:25741868 PMID:25938944 PMID:26076356 PMID:26431160 PMID:26467025 PMID:26553438 PMID:26559593 PMID:26649986 PMID:27329137 PMID:27713038 PMID:27720914 PMID:28492532 PMID:28912133 PMID:29522130 PMID:29625052 PMID:29641532 PMID:29909963 PMID:30248171 PMID:30267214 PMID:30552997 PMID:30584090 PMID:30753826 PMID:30833958 PMID:31220976 PMID:31227763 PMID:31263571 PMID:31285513 PMID:31360874 PMID:31645984 PMID:31942411 PMID:32091409 PMID:32300177 PMID:32581083 PMID:32704608 PMID:32860789 PMID:32906206 PMID:33087284 PMID:33193653 PMID:33332384 PMID:33454955 PMID:33980861 PMID:34871433 PMID:34994648 PMID:35128723 PMID:37088804 PMID:37353797 PMID:37460928 More...
|
|
NCBI chr16:655,433...663,521
Ensembl chr16:2,127,858...2,135,656
|
|
|
G |
DHFR |
dihydrofolate reductase |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 4 |
ClinVar |
PMID:20154325 PMID:25741868 PMID:26467025 PMID:27476653 PMID:28492532 PMID:37402566 More...
|
|
NCBI chr 5:34,663,210...34,689,467
Ensembl chr 5:34,938,548...34,967,003
|
|
G |
MSH3 |
mutS homolog 3 |
|
ISO |
ClinVar Annotator: match by term: Familial adenomatous polyposis 4 | ClinVar Annotator: match by term: MSH3-related attenuated familial adenomatous polyposis |
OMIM ClinVar |
PMID:8782829 PMID:9536098 PMID:11470537 PMID:16199547 PMID:17576681 PMID:20154325 PMID:20981092 PMID:21128252 PMID:21153778 PMID:22179786 PMID:23960188 PMID:25741868 PMID:26467025 PMID:27476653 PMID:28211887 PMID:28492532 PMID:28528517 PMID:28873162 PMID:28875981 PMID:28944238 PMID:29212164 PMID:29641532 PMID:31127692 PMID:31243857 PMID:31589614 PMID:32619037 PMID:32634176 PMID:33193653 PMID:34250384 PMID:34308366 PMID:34404389 PMID:34767783 PMID:34994648 PMID:37402566 More...
|
|
NCBI chr 5:34,408,469...34,663,483
Ensembl chr 5:34,719,322...34,938,469
|
|
|
G |
ACE |
angiotensin I converting enzyme |
|
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:20488708 |
RGD:11039024 |
NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
|
|
G |
CAND2 |
cullin associated and neddylation dissociated 2 (putative) |
|
ISO |
|
RGD |
PMID:31426861 |
RGD:18899564 |
NCBI chr 3:12,722,259...12,757,983
Ensembl chr 3:13,066,135...13,102,246
|
|
|
G |
CDC73 |
cell division cycle 73 |
|
ISO |
ClinVar Annotator: match by term: Cystic parathyroid adenoma |
ClinVar |
PMID:12434154 |
|
NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934
|
|
|
G |
HNF1A |
HNF1 homeobox A |
|
ISO |
ClinVar Annotator: match by term: Hepatic adenomas, familial |
OMIM ClinVar |
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 PMID:9166684 PMID:9313763 PMID:9439666 PMID:10333057 PMID:10447526 PMID:10754480 PMID:11058894 PMID:11315851 PMID:12050210 PMID:12355088 PMID:12530534 PMID:12574234 PMID:12618559 PMID:14747304 PMID:15649945 PMID:15928245 PMID:17054605 PMID:17407387 PMID:17440016 PMID:17573900 PMID:17937063 PMID:17989309 PMID:18003757 PMID:18672310 PMID:21051477 PMID:21628466 PMID:23348805 PMID:23551881 PMID:23607861 PMID:25174781 PMID:25555642 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28862987 PMID:29417725 PMID:30814848 PMID:32741144 PMID:34373539 More...
|
|
NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911
|
|
|
G |
AIP |
aryl hydrocarbon receptor interacting protein |
|
ISO |
ClinVar Annotator: match by term: Familial isolated pituitary adenoma |
ClinVar |
PMID:16728643 PMID:17242703 PMID:17244780 PMID:17609395 PMID:18484068 PMID:19474519 PMID:20506337 PMID:21348957 PMID:21753072 PMID:22319033 PMID:22720333 PMID:22915287 PMID:24050928 PMID:25184284 PMID:25614825 PMID:25741868 PMID:26186299 PMID:26792934 PMID:28255869 PMID:28492532 PMID:29074612 More...
|
|
NCBI chr11:62,841,377...62,849,664
Ensembl chr11:66,152,670...66,160,898
|
|
G |
ALK |
ALK receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Familial isolated pituitary adenoma |
ClinVar |
PMID:9536098 PMID:17576681 PMID:21838707 PMID:22072639 PMID:23104988 PMID:25741868 PMID:28492532 PMID:32984025 More...
|
|
NCBI chr2A:29,196,195...29,930,062
Ensembl chr2A:29,276,041...30,006,735
|
|
G |
GNAI2 |
G protein subunit alpha i2 |
|
ISO |
ClinVar Annotator: match by term: Familial isolated pituitary adenoma |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:50,154,731...50,187,948
Ensembl chr 3:51,398,981...51,421,988
|
|
|
G |
TGFBR1 |
transforming growth factor beta receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Ferguson-Smith type epithelioma | ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma |
ClinVar OMIM |
PMID:2511639 PMID:2647812 PMID:5173258 PMID:8499949 PMID:16596670 PMID:16791849 PMID:16928994 PMID:18781618 PMID:19542084 PMID:21267002 PMID:21358634 PMID:22414221 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:25110237 PMID:25116393 PMID:25521989 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25834947 PMID:25907466 PMID:25944730 PMID:25985138 PMID:26848186 PMID:26877057 PMID:27146836 PMID:27153395 PMID:27611364 PMID:27879313 PMID:28209770 PMID:28492532 PMID:28550590 PMID:28655553 PMID:29706644 PMID:29907982 PMID:31915033 PMID:33256177 PMID:33824467 More...
|
|
NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748
|
|
|
G |
FOSL1 |
FOS like 1, AP-1 transcription factor subunit |
|
ISO |
mRNA, protein:increased expression:breast |
RGD |
PMID:17254320 |
RGD:2293756 |
NCBI chr11:61,252,513...61,261,032
Ensembl chr11:64,581,841...64,589,304
|
|
G |
MED12 |
mediator complex subunit 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25038752 PMID:26437033 |
|
NCBI chr X:60,386,820...60,410,730
Ensembl chr X:70,443,667...70,466,942
|
|
G |
RARA |
retinoic acid receptor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437033 |
|
NCBI chr17:16,932,485...16,980,958
|
|
G |
WNT2 |
Wnt family member 2 |
|
ISO |
mRNA:increased expression:breast |
RGD |
PMID:8168088 |
RGD:2291878 |
NCBI chr 7:109,244,772...109,291,472
Ensembl chr 7:121,936,031...121,985,862
|
|
G |
WNT4 |
Wnt family member 4 |
|
ISO |
breast fibroadenoma; mRNA:increased expression:tumor:increased vs normal and malignant breast tissue (p=0.001) |
RGD |
PMID:8168088 |
RGD:2291878 |
NCBI chr 1:21,310,228...21,335,985
Ensembl chr 1:22,255,056...22,268,801
|
|
|
G |
KRT16 |
keratin 16 |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal |
ClinVar |
PMID:8595410 PMID:16250206 PMID:25741868 PMID:28492532 PMID:31823354 |
|
NCBI chr17:15,704,348...15,707,328
Ensembl chr17:15,922,924...15,929,437
|
|
G |
KRT6C |
keratin 6C |
|
ISO |
ClinVar Annotator: match by term: Focal palmoplantar keratoderma |
ClinVar |
PMID:19609311 |
|
NCBI chr12:36,290,422...36,295,663
|
|
G |
SPATA22 |
spermatogenesis associated 22 |
|
ISO |
ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma |
ClinVar |
|
|
NCBI chr17:3,120,296...3,532,343
Ensembl chr17:3,489,143...3,560,654
|
|
G |
TRPV3 |
transient receptor potential cation channel subfamily V member 3 |
|
ISO |
ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma |
ClinVar |
PMID:9536098 PMID:17576681 PMID:21285946 PMID:24452206 PMID:25285920 PMID:25741868 PMID:28492532 PMID:28587736 More...
|
|
NCBI chr17:3,528,734...3,577,162
Ensembl chr17:3,516,209...3,603,787
|
|
|
G |
KRT16 |
keratin 16 |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 1 |
OMIM ClinVar |
PMID:8595410 PMID:16250206 PMID:22668561 PMID:24491404 PMID:25741868 PMID:28492532 PMID:31823354 More...
|
|
NCBI chr17:15,704,348...15,707,328
Ensembl chr17:15,922,924...15,929,437
|
|
|
G |
TRPV3 |
transient receptor potential cation channel subfamily V member 3 |
|
ISO |
|
OMIM |
|
|
NCBI chr17:3,528,734...3,577,162
Ensembl chr17:3,516,209...3,603,787
|
|
|
G |
BAP1 |
BRCA1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Ganglioglioma |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
|
|
G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Childhood ganglioglioma |
ClinVar |
PMID:19363522 PMID:19794125 PMID:21190184 PMID:21343559 PMID:21716161 PMID:22535154 PMID:24033266 More...
|
|
NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
|
|
G |
NF1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Ganglioglioma |
ClinVar |
PMID:7607663 PMID:10712197 PMID:15523642 PMID:16835897 PMID:16944272 PMID:18546366 PMID:19738042 PMID:23913538 PMID:24357598 PMID:25325900 PMID:25741868 PMID:26467025 PMID:27980226 PMID:28492532 PMID:31371350 PMID:34427956 PMID:34988040 More...
|
|
NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295
|
|
|
G |
APC |
APC regulator of WNT signaling pathway |
|
ISO |
ClinVar Annotator: match by term: Gardner syndrome |
ClinVar |
PMID:1316610 PMID:1651563 PMID:2164769 PMID:2478327 PMID:7485167 PMID:8162051 PMID:8381579 PMID:8381580 PMID:8594558 PMID:9375853 PMID:9487968 PMID:9824584 PMID:9916927 PMID:10094547 PMID:10982189 PMID:11317365 PMID:11466687 PMID:12007223 PMID:12173026 PMID:14633595 PMID:15024739 PMID:15311282 PMID:16134147 PMID:16317745 PMID:17135589 PMID:17293347 PMID:17963004 PMID:18199528 PMID:18433509 PMID:20223039 PMID:20513532 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21643010 PMID:21779980 PMID:21859464 PMID:22000517 PMID:22135120 PMID:22703879 PMID:22987206 PMID:23159591 PMID:23561487 PMID:24033266 PMID:24728327 PMID:24790607 PMID:24841357 PMID:25142776 PMID:25637381 PMID:25741868 PMID:26332594 PMID:26467025 PMID:26613750 PMID:26845104 PMID:26917275 PMID:27081525 PMID:27435373 PMID:27930734 PMID:28492532 PMID:30897307 PMID:35979026 More...
|
|
NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
|
|
|
G |
APC |
APC regulator of WNT signaling pathway |
|
ISO |
ClinVar Annotator: match by term: Gastric adenocarcinoma and proximal polyposis of the stomach |
OMIM ClinVar |
PMID:1324223 PMID:1944466 PMID:2996804 PMID:8381579 PMID:8990002 PMID:9950360 PMID:10083733 PMID:10094547 PMID:10713886 PMID:11748858 PMID:11933206 PMID:12007223 PMID:12173026 PMID:15024739 PMID:15108288 PMID:16088911 PMID:16292097 PMID:16317745 PMID:17411426 PMID:18433509 PMID:20223039 PMID:20685668 PMID:20924072 PMID:21813476 PMID:22027476 PMID:22851115 PMID:25741868 PMID:26300997 PMID:26446593 PMID:26467025 PMID:27087319 PMID:27343414 PMID:28492532 PMID:28533537 PMID:29112017 PMID:29141268 PMID:29968043 PMID:30374176 PMID:31159747 PMID:31409086 PMID:33242120 More...
|
|
NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
|
|
|
G |
WRAP53 |
WD repeat containing antisense to TP53 |
disease_progression |
ISO |
|
RGD |
PMID:28849066 |
RGD:21081521 |
NCBI chr17:7,715,897...7,735,873
Ensembl chr17:7,707,221...7,723,394
|
|
|
G |
AIP |
aryl hydrocarbon receptor interacting protein |
|
ISO |
ClinVar Annotator: match by term: Somatotroph adenoma |
ClinVar |
PMID:2200621 PMID:5320367 PMID:9482716 PMID:9536098 PMID:12213383 PMID:12810716 PMID:16728643 PMID:17242703 PMID:17244780 PMID:17299063 PMID:17341560 PMID:17360484 PMID:17371465 PMID:17576681 PMID:17609395 PMID:18381572 PMID:18410548 PMID:18484068 PMID:19366855 PMID:19474519 PMID:19556287 PMID:19684062 PMID:19955762 PMID:20354355 PMID:20457215 PMID:20506337 PMID:20507346 PMID:20530095 PMID:20570174 PMID:20595802 PMID:20685857 PMID:21208107 PMID:21340166 PMID:21348957 PMID:21454441 PMID:21512261 PMID:21753072 PMID:21984905 PMID:22287093 PMID:22319033 PMID:22720333 PMID:22915287 PMID:23038625 PMID:23038925 PMID:23300914 PMID:23321498 PMID:23371967 PMID:23633209 PMID:23743763 PMID:24033266 PMID:24050928 PMID:24078436 PMID:24423289 PMID:24789813 PMID:25019383 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25350067 PMID:25614825 PMID:25741868 PMID:26186299 PMID:26792934 PMID:27033541 PMID:27153395 PMID:27253664 PMID:27267386 PMID:27650164 PMID:28220018 PMID:28255869 PMID:28427099 PMID:28492532 PMID:28634279 PMID:29036195 PMID:29074612 PMID:29308445 PMID:29455389 PMID:29507682 PMID:29632148 PMID:29729370 PMID:30262796 PMID:30461320 PMID:30822274 PMID:30941100 PMID:32324286 PMID:34588620 PMID:35586626 More...
|
|
NCBI chr11:62,841,377...62,849,664
Ensembl chr11:66,152,670...66,160,898
|
|
G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
|
ISO |
protein:increased expression:pituitary gland: |
RGD |
PMID:18981426 |
RGD:8662821 |
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
|
|
G |
GNAS |
GNAS complex locus |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11254676 |
|
NCBI chr20:55,190,607...55,262,245
|
|
G |
GPR101 |
G protein-coupled receptor 101 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr X:126,149,803...126,159,844
Ensembl chr X:136,418,522...136,420,048
|
|
G |
HPGD |
15-hydroxyprostaglandin dehydrogenase |
|
ISO |
mRNA:decreased expression:pituitary gland |
RGD |
PMID:22580984 |
RGD:11667097 |
NCBI chr 4:166,716,386...166,749,225
Ensembl chr 4:178,949,137...178,982,910
|
|
G |
LOC100971425 |
somatotropin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1611713 PMID:2042694 |
|
NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067
|
|
G |
MEN1 |
menin 1 |
|
ISO |
ClinVar Annotator: match by term: Somatotroph adenoma |
ClinVar |
PMID:30630164 |
|
NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164
|
|
G |
PRL |
prolactin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2042694 |
|
NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829
|
|
G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
mRNA:increased expression:pituitary gland |
RGD |
PMID:22580984 |
RGD:11667097 |
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
|
|
|
G |
GPR101 |
G protein-coupled receptor 101 |
|
ISO |
ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2 |
OMIM ClinVar |
PMID:25470569 PMID:25806919 PMID:25806920 PMID:25806921 PMID:26792934 PMID:26815903 PMID:27245663 PMID:27498687 PMID:28492532 PMID:29389097 More...
|
|
NCBI chr X:126,149,803...126,159,844
Ensembl chr X:136,418,522...136,420,048
|
|
|
G |
ABCB1 |
ATP binding cassette subfamily B member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25275603 |
|
NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238
|
|
G |
ABCC1 |
ATP binding cassette subfamily C member 1 (ABCC1 blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25275603 |
|
|
|
G |
ABCC2 |
ATP binding cassette subfamily C member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25275603 |
|
NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270
|
|
G |
ABCG2 |
ATP binding cassette subfamily G member 2 (JR blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25275603 |
|
NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157
|
|
G |
ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:11569495 PMID:11853795 PMID:12399961 PMID:12623848 PMID:14745431 PMID:19164531 PMID:19264234 PMID:19811824 PMID:21489624 PMID:23676790 PMID:24236021 PMID:25157968 PMID:31775759 More...
|
|
NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
|
|
G |
AKT1 |
AKT serine/threonine kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma |
ClinVar |
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:18954143 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 More...
|
|
NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
|
|
G |
ANKRD17 |
ankyrin repeat domain 17 |
|
ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:28580594 |
|
NCBI chr 4:50,939,013...51,124,185
Ensembl chr 4:56,770,798...57,439,365
|
|
G |
ATP7B |
ATPase copper transporting beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12509969 |
|
NCBI chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839
|
|
G |
B2M |
beta-2-microglobulin |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:26619011 |
|
NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991
|
|
G |
BIRC2 |
baculoviral IAP repeat containing 2 |
exacerbates |
ISO |
mRNA:increased expression:head or neck skin (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421
|
|
G |
BIRC3 |
baculoviral IAP repeat containing 3 |
ameliorates |
ISO |
mRNA:increased expression:head or neck skin (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194
|
|
G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18186519 PMID:18368129 PMID:18398503 PMID:18413255 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:19913317 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21062266 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:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28492532 PMID:28854169 PMID:28891408 PMID:29595366 PMID:29925953 PMID:31336229 PMID:31775759 PMID:31779674 PMID:31891627 PMID:34476331 More...
|
|
NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
|
|
G |
CASP8 |
caspase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23358896 |
|
NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
|
|
G |
CCDC3 |
coiled-coil domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:26614431 |
|
NCBI chr10:12,901,592...13,104,528
Ensembl chr10:12,875,678...13,025,280
|
|
G |
CCNA1 |
cyclin A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23358896 PMID:29464035 |
|
NCBI chr13:17,649,064...17,660,550
Ensembl chr13:36,080,331...36,092,078
|
|
G |
CCNA2 |
cyclin A2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29464035 |
|
NCBI chr 4:114,016,917...114,024,816
Ensembl chr 4:125,153,810...125,161,302
|
|
G |
CCNB1 |
cyclin B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29464035 |
|
NCBI chr 5:44,826,103...44,836,832
Ensembl chr 5:46,394,362...46,405,332
|
|
G |
CCND1 |
cyclin D1 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:9796972 PMID:26909611 PMID:29464035 |
RGD:13434911 |
NCBI chr11:64,737,006...64,750,353
|
|
G |
CCNE1 |
cyclin E1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29464035 |
|
NCBI chr19:26,739,285...26,751,630
Ensembl chr19:35,496,700...35,510,295
|
|
G |
CCNE2 |
cyclin E2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29464035 |
|
NCBI chr 8:91,499,647...91,518,488
Ensembl chr 8:93,702,104...93,717,151
|
|
G |
CDC73 |
cell division cycle 73 |
exacerbates |
ISO |
protein:increased expression:squamous epithelium (human) |
RGD |
PMID:26124004 |
RGD:11065919 |
NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934
|
|
G |
CDK2 |
cyclin dependent kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29464035 |
|
NCBI chr12:32,940,225...32,946,236
Ensembl chr12:33,189,934...33,195,945
|
|
G |
CDK4 |
cyclin dependent kinase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29464035 |
|
NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876
|
|
G |
CDK6 |
cyclin dependent kinase 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29464035 |
|
NCBI chr 7:84,603,419...84,835,082
|
|
G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
disease_progression |
ISO |
DNA:SNPs: :rs3731217, rs3088440 (human) ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
RGD ClinVar |
PMID:7718873 PMID:7777060 PMID:7777061 PMID:7780957 PMID:8153634 PMID:8521414 PMID:8573142 PMID:8595405 PMID:8668202 PMID:8723678 PMID:8755727 PMID:8834170 PMID:9053859 PMID:9166859 PMID:9324288 PMID:9328469 PMID:9536098 PMID:9660926 PMID:9710613 PMID:9751050 PMID:9823374 PMID:9856841 PMID:10491434 PMID:11078762 PMID:11358797 PMID:11477665 PMID:11500805 PMID:11687599 PMID:12072543 PMID:12606942 PMID:14508519 PMID:15140233 PMID:15146471 PMID:16234564 PMID:16374456 PMID:16818274 PMID:16896043 PMID:16905682 PMID:17576681 PMID:17992122 PMID:18205010 PMID:18519632 PMID:18573309 PMID:20505745 PMID:21381012 PMID:21462282 PMID:21507037 PMID:21609436 PMID:21801156 PMID:24336570 PMID:25157968 PMID:25356972 PMID:25741868 PMID:26619011 PMID:26681309 PMID:26775776 PMID:27756164 PMID:27960642 PMID:28146043 PMID:28492532 PMID:28765326 PMID:28830827 PMID:29464027 PMID:29915805 PMID:29983899 PMID:30291219 PMID:30742731 PMID:31382929 PMID:31775759 PMID:32455486 PMID:35001868 More...
|
RGD:8552291 |
NCBI chr 9:21,803,862...21,831,322
|
|
G |
CHD4 |
chromodomain helicase DNA binding protein 4 |
|
ISO |
mRNA:increased expression:head or neck skin (human) |
RGD |
PMID:28486105 |
RGD:153323299 |
NCBI chr12:6,701,004...6,738,621
Ensembl chr12:6,619,089...6,656,076
|
|
G |
CLDN1 |
claudin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33665778 |
|
NCBI chr 3:187,328,629...187,345,360
Ensembl chr 3:195,882,239...195,899,248
|
|
G |
CREBBP |
CREB binding protein |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
|
|
NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
|
|
G |
CTNNB1 |
catenin beta 1 |
|
ISO |
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:9927029 PMID:10192393 PMID:23265383 PMID:25157968 PMID:26619011 PMID:26822237 More...
|
|
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
|
|
G |
CYP2C19 |
cytochrome P450 family 2 subfamily C member 19 |
treatment |
ISO |
DNA:polymorphisms: :CYP2C19*2(human) |
RGD |
PMID:19954746 |
RGD:401901267 |
NCBI chr10:91,375,255...91,465,215
Ensembl chr10:94,884,472...94,970,065
|
|
G |
CYP2C9 |
cytochrome P450 family 2 subfamily C member 9 |
treatment |
ISO |
DNA:polymorphisms: :CYP2C9*2(human) |
RGD |
PMID:19954746 |
RGD:401901267 |
NCBI chr10:91,547,865...91,598,918
Ensembl chr10:95,022,482...95,105,653
|
|
G |
DDR2 |
discoidin domain receptor tyrosine kinase 2 |
severity |
ISO |
|
RGD |
PMID:24556606 |
RGD:150429746 |
NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766
|
|
G |
DNMT3B |
DNA methyltransferase 3 beta |
susceptibility |
ISO |
DNA:SNP,haplotype:promoter:-149C>T,-579G>T(human) |
RGD |
PMID:18455294 |
RGD:9589078 |
NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487
|
|
G |
DPYD |
dihydropyrimidine dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
|
|
NCBI chr 1:99,736,145...100,576,663
Ensembl chr 1:98,457,934...99,300,100
|
|
G |
EGFR |
epidermal growth factor receptor |
|
ISO |
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:15118073 PMID:15118125 PMID:15788655 PMID:17177598 PMID:20415598 PMID:21531084 PMID:23242437 PMID:23358982 PMID:24712396 PMID:25157968 PMID:25382819 PMID:25741868 PMID:25969368 PMID:26101090 PMID:26619011 PMID:28492532 PMID:28874603 PMID:29576263 PMID:29945477 PMID:31775759 PMID:33644199 PMID:33898318 PMID:34555730 PMID:36698436 More...
|
|
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
|
|
G |
EP300 |
E1A binding protein p300 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:26619011 |
|
NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
|
|
G |
ERBB2 |
erb-b2 receptor tyrosine kinase 2 |
disease_progression |
ISO |
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma |
RGD ClinVar |
PMID:20604875 PMID:22908275 PMID:26619011 |
RGD:126790467 |
NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
|
|
G |
ERBB4 |
erb-b2 receptor tyrosine kinase 4 |
severity |
ISO |
|
RGD |
PMID:20604875 |
RGD:126790467 |
NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
|
|
G |
FANCB |
FA complementation group B |
|
ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:20332657 |
RGD:11344903 |
NCBI chr X:7,470,574...7,500,958
Ensembl chr X:14,752,934...14,781,817
|
|
G |
FANCD2 |
FA complementation group D2 |
|
ISO |
|
RGD |
PMID:20935219 |
RGD:11344907 |
NCBI chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190
|
|
G |
FBXW7 |
F-box and WD repeat domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:25741868 PMID:26619011 |
|
NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
|
|
G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma |
ClinVar |
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8640234 PMID:8858131 PMID:9438390 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11241532 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16841094 PMID:17384684 PMID:18642369 PMID:19381019 PMID:19749790 PMID:20301540 PMID:20420824 PMID:22045636 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28492532 More...
|
|
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
|
|
G |
FGFR4 |
fibroblast growth factor receptor 4 |
severity |
ISO |
DNA:SNP:exon 9: p.G388R (human) |
RGD |
PMID:17084840 |
RGD:150520023 |
NCBI chr 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605
|
|
G |
FHIT |
fragile histidine triad diadenosine triphosphatase |
|
ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:28580594 |
|
NCBI chr 3:59,670,777...61,177,974
|
|
G |
GNAS |
GNAS complex locus |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9626141 PMID:11093740 PMID:12727968 PMID:12970318 PMID:15126527 PMID:15952988 PMID:16507630 PMID:16543670 PMID:17873334 PMID:20197676 PMID:21835143 PMID:23403822 PMID:23536913 PMID:23843956 PMID:24855271 PMID:25157968 PMID:25719192 PMID:25741868 PMID:26619011 PMID:27398169 PMID:27506760 PMID:28492532 PMID:30702195 More...
|
|
NCBI chr20:55,190,607...55,262,245
|
|
G |
GRIK2 |
glutamate ionotropic receptor kainate type subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:26614431 |
|
NCBI chr 6:98,720,430...99,903,582
Ensembl chr 6:103,334,707...103,783,092
|
|
G |
HOXA5 |
homeobox A5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22227861 |
|
NCBI chr 7:27,786,040...27,789,339
Ensembl chr 7:27,385,175...27,388,990
|
|
G |
HOXD10 |
homeobox D10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22227861 |
|
NCBI chr2B:63,395,636...63,399,704
Ensembl chr2B:181,104,876...181,110,963
|
|
G |
HOXD11 |
homeobox D11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22227861 |
|
NCBI chr2B:63,386,806...63,398,777
|
|
G |
HRAS |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:1904555 PMID:2105486 PMID:3510078 PMID:11150980 PMID:12727991 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18642361 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:19855393 PMID:20658932 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:26916728 PMID:27102959 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
|
|
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
|
|
G |
IDH2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24589777 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 PMID:34641967 More...
|
|
NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
|
|
G |
IFNL3 |
interferon lambda 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21304406 |
|
NCBI chr19:36,341,396...36,343,261
|
|
G |
IGF1 |
insulin like growth factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30594912 |
|
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
|
|
G |
IL1A |
interleukin 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27738319 |
|
NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
|
|
G |
IL1RAP |
interleukin 1 receptor accessory protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27738319 |
|
NCBI chr 3:187,535,880...187,680,628
Ensembl chr 3:196,089,208...196,231,379
|
|
G |
IL2 |
interleukin 2 |
|
ISO |
|
RGD |
PMID:2787951 PMID:3263896 |
RGD:8662923 RGD:8662971 |
NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
|
|
G |
ING1 |
inhibitor of growth family member 1 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
OMIM ClinVar |
PMID:10866301 |
|
NCBI chr13:91,849,153...91,856,943
Ensembl chr13:110,963,405...110,970,691
|
|
G |
IRS1 |
insulin receptor substrate 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30594912 |
|
NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967
|
|
G |
JUNB |
JunB proto-oncogene, AP-1 transcription factor subunit |
ameliorates |
ISO |
human cell line in a mouse model |
RGD |
PMID:26754630 |
RGD:11556098 |
NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974
|
|
G |
KEAP1 |
kelch like ECH associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
|
|
NCBI chr19:10,037,544...10,055,091
Ensembl chr19:10,701,303...10,717,604
|
|
G |
KISS1 |
KiSS-1 metastasis suppressor |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21383688 |
|
|
|
G |
KIT |
KIT proto-oncogene, receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:16307017 PMID:22703879 PMID:24728327 PMID:25741868 PMID:28492532 PMID:31775759 More...
|
|
NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473
|
|
G |
LNX1 |
ligand of numb-protein X 1 |
|
ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:26614431 |
|
NCBI chr 4:70,374,106...70,497,058
Ensembl chr 4:76,911,082...77,050,270
|
|
G |
LOC100988273 |
cytochrome P450 2D6-like |
treatment |
ISO |
DNA:polymorphisms: :CYP2D6*4,CYP2D6*10(human) |
RGD |
PMID:19954746 |
RGD:401901267 |
NCBI chr22:23,022,449...23,031,627
|
|
G |
LOC100989577 |
contactin-4 |
|
ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:28595731 |
|
NCBI chr 3:2,037,293...2,998,793
Ensembl chr 3:2,616,432...3,101,786
|
|
G |
LRRC56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:1904555 PMID:2105486 PMID:3510078 PMID:11150980 PMID:12727991 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18642361 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:19855393 PMID:20658932 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:26916728 PMID:27102959 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
|
|
NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
|
|
G |
MAP2K1 |
mitogen-activated protein kinase kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:23444215 PMID:25157968 PMID:26619011 |
|
NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161
|
|
G |
MAP2K2 |
mitogen-activated protein kinase kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:18042262 PMID:26619011 |
|
NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933
|
|
G |
MAPK1 |
mitogen-activated protein kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:26619011 |
|
NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
|
|
G |
MGMT |
O-6-methylguanine-DNA methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24991542 |
|
NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422
|
|
G |
MMP2 |
matrix metallopeptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:28595731 |
|
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
|
|
G |
NAIP |
NLR family apoptosis inhibitory protein |
ameliorates |
ISO |
mRNA:increased expression:head or neck skin (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr 5:44,345,623...44,401,358
Ensembl chr 5:45,920,125...45,973,937
|
|
G |
NAMPT |
nicotinamide phosphoribosyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28501332 |
|
NCBI chr 7:98,227,071...98,262,254
Ensembl chr 7:110,952,876...110,981,967
|
|
G |
NDRG1 |
N-myc downstream regulated 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22972152 |
|
NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514
|
|
G |
NFE2L2 |
NFE2 like bZIP transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:26619011 PMID:29018201 |
|
NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
|
|
G |
NSDHL |
NAD(P) dependent steroid dehydrogenase-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23125191 |
|
NCBI chr X:142,405,340...142,443,723
Ensembl chr X:152,324,553...152,362,931
|
|
G |
OGG1 |
8-oxoguanine DNA glycosylase |
susceptibility |
ISO |
DNA:SNP: :rs1052133 (human) |
RGD |
PMID:21727658 PMID:22081374 |
RGD:8657144 RGD:8657147 |
NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335
|
|
G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20581867 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24497998 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26351730 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27283355 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29446767 PMID:29549527 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31568861 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:37712948 More...
|
|
NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
|
|
G |
POLR1C |
RNA polymerase I and III subunit C |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
|
|
NCBI chr 6:43,101,771...43,121,460
Ensembl chr 6:44,395,787...44,412,257
|
|
G |
PPP2R1A |
protein phosphatase 2 scaffold subunit Aalpha |
|
ISO |
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:25741868 PMID:26168268 PMID:26619011 PMID:28492532 PMID:31687265 PMID:33106617 PMID:34930662 More...
|
|
NCBI chr19:49,133,295...49,169,447
Ensembl chr19:58,011,383...58,047,577
|
|
G |
PREX2 |
phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:26614431 |
|
NCBI chr 8:64,489,817...64,769,602
Ensembl chr 8:66,215,974...66,430,138
|
|
G |
PTEN |
phosphatase and tensin homolog |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 PMID:11504908 PMID:11801303 PMID:11875759 PMID:11948419 PMID:16773562 PMID:17526801 PMID:17942903 PMID:18767981 PMID:19457929 PMID:20085938 PMID:20300775 PMID:20301661 PMID:20926450 PMID:21190448 PMID:21194675 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22595938 PMID:23335809 PMID:23361946 PMID:23399955 PMID:23470840 PMID:24292679 PMID:24778394 PMID:25157968 PMID:25527629 PMID:25741868 PMID:26619011 PMID:26798346 PMID:27477328 PMID:27535533 PMID:28475857 PMID:28492532 PMID:28677221 PMID:29359449 PMID:29706350 PMID:30311380 PMID:30528446 PMID:31159747 PMID:32350270 PMID:32442409 PMID:33077954 More...
|
|
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
|
|
G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12969226 |
|
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
|
|
G |
PTPN13 |
protein tyrosine phosphatase non-receptor type 13 |
susceptibility |
ISO |
DNA:missense mutations:cds:p.I1522M, p.Y2081D (human) DNA:SNPs:cds:c.4566 A>G(I1522M)(rs2230600), c.6241 T>G (Y2081D)(rs989902)(human) |
RGD |
PMID:19672627 PMID:19892796 |
RGD:152176661 RGD:152176665 |
NCBI chr 4:78,893,598...79,118,745
Ensembl chr 4:89,623,271...89,847,616
|
|
G |
RAC1 |
Rac family small GTPase 1 |
|
ISO |
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma |
ClinVar |
PMID:25056119 PMID:26619011 |
|
NCBI chr 7:7,039,379...7,068,866
|
|
G |
RASGRP3 |
RAS guanyl releasing protein 3 |
|
ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:26614431 |
|
NCBI chr2A:33,444,941...33,572,829
Ensembl chr2A:34,196,421...34,284,307
|
|
G |
RB1 |
RB transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:31775759 |
|
NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
|
|
G |
RHOA |
ras homolog family member A |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:26619011 |
|
NCBI chr 3:49,282,009...49,339,887
|
|
G |
SAMD4A |
sterile alpha motif domain containing 4A |
|
ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:28580594 |
|
NCBI chr14:35,153,002...35,380,018
Ensembl chr14:53,566,636...53,654,151
|
|
G |
SERPINE1 |
serpin family E member 1 |
severity |
ISO |
protein:increased expression:oral mucosa (human) |
RGD |
PMID:15878520 |
RGD:8547730 |
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
|
|
G |
SLC29A1 |
solute carrier family 29 member 1 (Augustine blood group) |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
|
|
NCBI chr 6:43,815,006...43,830,290
Ensembl chr 6:45,099,243...45,113,689
|
|
G |
SMAD4 |
SMAD family member 4 |
|
ISO |
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:8898652 PMID:9214508 PMID:9285566 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10797267 PMID:11274206 PMID:11583957 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:16613914 PMID:17873119 PMID:17994767 PMID:18823382 PMID:20101697 PMID:20301642 PMID:22316667 PMID:22331366 PMID:25741868 PMID:26572829 PMID:26619011 PMID:26900293 PMID:27595937 PMID:28492532 PMID:31837202 PMID:32300199 PMID:32573726 PMID:32944796 More...
|
|
NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359
|
|
G |
SNTB1 |
syntrophin beta 1 |
|
ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:28595731 |
|
NCBI chr 8:117,225,128...117,501,899
Ensembl chr 8:119,996,149...120,268,188
|
|
G |
SOD2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20618948 |
|
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
|
|
G |
STAT3 |
signal transducer and activator of transcription 3 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:24395569 PMID:27064016 |
RGD:8694302 |
NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
|
|
G |
STK11 |
serine/threonine kinase 11 |
|
ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:31775759 PMID:34326862 |
|
Ensembl chr19:1,188,537...1,210,677
|
|
G |
TNFRSF10A |
TNF receptor superfamily member 10a |
|
ISO |
DNA:missense mutation:cds:p.E228A (c.683A>C) (human) |
RGD |
PMID:16217763 |
RGD:11038717 |
NCBI chr 8:22,440,502...22,476,790
Ensembl chr 8:19,378,547...19,414,724
|
|
G |
TNFRSF10B |
TNF receptor superfamily member 10b |
|
ISO |
|
OMIM |
|
|
NCBI chr 8:22,270,325...22,318,841
Ensembl chr 8:19,209,904...19,258,498
|
|
G |
TP53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic |
ClinVar |
PMID:253702 PMID:960674 PMID:1349102 PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1581912 PMID:1591732 PMID:1631137 PMID:1631151 PMID:1644930 PMID:1673792 PMID:1679237 PMID:1683921 PMID:1686725 PMID:1737852 PMID:1849234 PMID:1915267 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2259385 PMID:2531845 PMID:2554494 PMID:2654466 PMID:2932480 PMID:3784963 PMID:4122735 PMID:6736287 PMID:7565304 PMID:7651740 PMID:7700647 PMID:7706467 PMID:7707106 PMID:7732013 PMID:7737263 PMID:7783166 PMID:7791795 PMID:7881428 PMID:7885831 PMID:7887414 PMID:7966399 PMID:7981076 PMID:8012986 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8102535 PMID:8118819 PMID:8134126 PMID:8164043 PMID:8242631 PMID:8242752 PMID:8276238 PMID:8308926 PMID:8336941 PMID:8344492 PMID:8364550 PMID:8401536 PMID:8402598 PMID:8423216 PMID:8425176 PMID:8464896 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8675009 PMID:8688334 PMID:8710380 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8829653 PMID:8869100 PMID:9020384 PMID:9047394 PMID:9049183 PMID:9067756 PMID:9096669 PMID:9150393 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9268986 PMID:9285560 PMID:9290701 PMID:9301461 PMID:9364015 PMID:9399658 PMID:9399838 PMID:9407971 PMID:9470817 PMID:9472631 PMID:9525742 PMID:9536098 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9582268 PMID:9598730 PMID:9607760 PMID:9627118 PMID:9632751 PMID:9635828 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9704931 PMID:9825943 PMID:9839505 PMID:9891044 PMID:9979965 PMID:10064694 PMID:10089074 PMID:10229196 PMID:10366100 PMID:10389749 PMID:10411893 PMID:10432928 PMID:10435620 PMID:10486318 PMID:10519380 PMID:10519384 PMID:10554037 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10753186 PMID:10761705 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11051241 PMID:11101847 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11313981 PMID:11370630 PMID:11403041 PMID:11423991 PMID:11429705 PMID:11479205 PMID:11481490 PMID:11590071 PMID:11593407 PMID:11600572 PMID:11668501 PMID:11753428 PMID:11782540 PMID:11793474 PMID:11805092 PMID:11896595 PMID:11900253 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12019170 PMID:12034820 PMID:12067251 PMID:12076704 PMID:12124823 PMID:12406399 PMID:12506399 PMID:12509279 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12695689 PMID:12700230 PMID:12702523 PMID:12726864 PMID:12826609 PMID:12885464 PMID:12909720 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14639659 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15121773 PMID:15138567 PMID:15161705 PMID:15221755 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15611505 PMID:15654279 PMID:15659650 PMID:15722483 PMID:15741269 PMID:15781620 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15958617 PMID:15964795 PMID:15977174 PMID:15982667 PMID:15993273 PMID:16007150 PMID:16033918 PMID:16199547 PMID:16199549 PMID:16206219 PMID:16209708 PMID:16258005 PMID:16288208 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16461914 PMID:16474844 PMID:16489069 PMID:16492679 PMID:16494995 PMID:16508005 PMID:16534790 PMID:16551709 PMID:16633321 PMID:16644204 PMID:16682957 PMID:16736287 PMID:16741917 PMID:16750598 PMID:16754663 PMID:16778209 PMID:16793544 PMID:16818505 PMID:16827139 PMID:16861262 PMID:16964264 PMID:17015838 PMID:17133269 PMID:17170001 PMID:17308077 PMID:17311302 PMID:17318340 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17535973 PMID:17540308 PMID:17541742 PMID:17567834 PMID:17572079 PMID:17576681 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17724467 PMID:17875924 PMID:17881637 PMID:17947339 PMID:18208484 PMID:18248785 PMID:18307025 PMID:18391940 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18689542 PMID:18818522 PMID:18937320 PMID:18978813 PMID:18989156 PMID:19012332 PMID:19046423 PMID:19101993 PMID:19127115 PMID:19139070 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19416725 PMID:19454241 PMID:19462533 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19681600 PMID:19717094 PMID:19756158 PMID:19834951 PMID:19850740 PMID:19877175 PMID:19881536 PMID:19909015 PMID:19913028 PMID:19930417 PMID:19933256 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20118236 PMID:20127978 PMID:20128691 PMID:20195489 PMID:20234365 PMID:20301488 PMID:20308654 PMID:20364130 PMID:20407015 PMID:20471942 PMID:20504876 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20538734 PMID:20589832 PMID:20593220 PMID:20658636 PMID:20689556 PMID:20693561 PMID:20805372 PMID:20878954 PMID:20972454 PMID:21056685 PMID:21059199 PMID:21060032 PMID:21113594 PMID:21115975 PMID:21118481 PMID:21153778 PMID:21159183 PMID:21187651 PMID:21192060 PMID:21225465 PMID:21232794 PMID:21305319 PMID:21319261 PMID:21331359 PMID:21343334 PMID:21348641 PMID:21356188 PMID:21445056 PMID:21445348 PMID:21468523 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21590121 PMID:21601526 PMID:21619694 PMID:21626334 PMID:21666498 PMID:21672450 PMID:21674059 PMID:21747090 PMID:21760960 PMID:21760996 PMID:21761402 PMID:21878961 PMID:21934104 PMID:22004116 PMID:22006311 PMID:22052707 PMID:22090360 PMID:22109999 PMID:22110706 PMID:22114072 PMID:22170717 PMID:22186996 PMID:22198284 PMID:22203015 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22373952 PMID:22427690 PMID:22455664 PMID:22484423 PMID:22551548 PMID:22553421 PMID:22553460 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22710932 PMID:22713868 PMID:22729912 PMID:22744426 PMID:22768918 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:22999923 PMID:23031740 PMID:23056559 PMID:23124483 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23200980 PMID:23246812 PMID:23255406 PMID:23259501 PMID:23263379 PMID:23264849 PMID:23265383 PMID:23334668 PMID:23340422 PMID:23406775 PMID:23469205 PMID:23484829 PMID:23531339 PMID:23538418 PMID:23570263 PMID:23612969 PMID:23624782 PMID:23625637 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23733769 PMID:23792586 PMID:23794094 PMID:23887774 PMID:23894400 PMID:23897043 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24076587 PMID:24122735 PMID:24171036 PMID:24256616 PMID:24278325 PMID:24307375 PMID:24326041 PMID:24381225 PMID:24382691 PMID:24384472 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24556621 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24630730 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24665023 PMID:24677579 PMID:24700732 PMID:24702488 PMID:24728327 PMID:24729566 PMID:24744791 PMID:24763289 PMID:24797764 PMID:24803582 PMID:24810334 PMID:24835218 PMID:24857548 PMID:24884479 PMID:24908601 PMID:24936644 PMID:25059482 PMID:25119136 PMID:25131192 PMID:25157968 PMID:25184754 PMID:25186627 PMID:25234657 PMID:25256166 PMID:25293557 PMID:25294809 PMID:25299233 PMID:25303977 PMID:25326637 PMID:25339994 PMID:25348012 PMID:25404506 PMID:25428789 PMID:25433984 PMID:25490274 PMID:25490678 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25619955 PMID:25634010 PMID:25634208 PMID:25637381 PMID:25669829 PMID:25691460 PMID:25736369 PMID:25741868 PMID:25742471 PMID:25757876 PMID:25787918 PMID:25886176 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25980754 PMID:26000489 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26066407 PMID:26086041 PMID:26205489 PMID:26206375 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26271412 PMID:26332594 PMID:26425688 PMID:26452166 PMID:26467025 PMID:26484312 PMID:26497680 PMID:26534844 PMID:26554828 PMID:26556299 PMID:26572807 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26659639 PMID:26681051 PMID:26681312 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27059324 PMID:27077130 PMID:27081505 PMID:27091190 PMID:27101868 PMID:27146902 PMID:27149858 PMID:27153395 PMID:27179933 PMID:27189670 PMID:27210295 PMID:27223487 PMID:27276561 PMID:27276934 PMID:27328919 PMID:27372520 PMID:27374712 PMID:27391063 PMID:27449771 PMID:27458004 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27501770 PMID:27516001 PMID:27523101 PMID:27533082 PMID:27616075 PMID:27619989 PMID:27621308 PMID:27622479 PMID:27663983 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27726232 PMID:27730344 PMID:27866339 PMID:27873457 PMID:27895058 PMID:27911860 PMID:27923552 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28176830 PMID:28202063 PMID:28230820 PMID:28279309 PMID:28349240 PMID:28356770 PMID:28369373 PMID:28387921 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28477317 PMID:28486781 PMID:28492532 PMID:28503720 PMID:28573494 PMID:28724667 PMID:28756477 PMID:28767289 PMID:28776571 PMID:28802053 PMID:28861920 PMID:28864397 PMID:28873162 PMID:28968711 PMID:28973705 PMID:28975465 PMID:28984303 PMID:29025599 PMID:29058119 PMID:29059199 PMID:29070607 PMID:29076966 PMID:29126202 PMID:29300620 PMID:29324801 PMID:29392648 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29522266 PMID:29581140 PMID:29625052 PMID:29752822 PMID:29753700 PMID:29844874 PMID:29875428 PMID:29922827 PMID:29946497 PMID:29955864 PMID:29958926 PMID:29979965 PMID:30042151 PMID:30067863 PMID:30076369 PMID:30092803 PMID:30099178 PMID:30107858 PMID:30128536 PMID:30152528 PMID:30216591 PMID:30224644 PMID:30262806 PMID:30287823 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30318520 PMID:30322717 PMID:30327374 PMID:30352134 PMID:30374176 PMID:30450585 PMID:30546832 PMID:30583724 PMID:30588330 PMID:30596752 PMID:30607672 PMID:30630526 PMID:30653764 PMID:30675318 PMID:30709381 PMID:30709875 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30840781 PMID:30918304 PMID:30982232 PMID:31016814 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31121848 PMID:31127191 PMID:31168460 PMID:31206626 PMID:31278746 PMID:31296311 PMID:31300551 PMID:31321604 PMID:31422574 PMID:31494577 PMID:31567591 PMID:31744167 PMID:31748977 PMID:31775759 PMID:31882575 PMID:31948886 PMID:31978118 PMID:32000721 PMID:32019277 PMID:32039725 PMID:32126783 PMID:32156018 PMID:32164171 PMID:32179180 PMID:32187361 PMID:32295079 PMID:32318955 PMID:32475984 PMID:32554555 PMID:32566746 PMID:32592449 PMID:32658311 PMID:32658383 PMID:32671623 PMID:32817165 PMID:32832836 PMID:32885271 PMID:32888145 PMID:32906206 PMID:32930885 PMID:32980694 PMID:32986223 PMID:32994724 PMID:33051313 PMID:33087929 PMID:33089535 PMID:33128190 PMID:33138793 PMID:33163847 PMID:33208383 PMID:33245408 PMID:33257846 PMID:33258288 PMID:33300245 PMID:33309985 PMID:33332384 PMID:33372952 PMID:33407742 PMID:33471991 PMID:33504652 PMID:33603772 PMID:33633026 PMID:33637564 PMID:33674644 PMID:33758026 PMID:33818021 PMID:33840814 PMID:34026625 PMID:34049842 PMID:34240179 PMID:34266904 PMID:34273903 PMID:34308366 PMID:34529667 PMID:34675114 PMID:34709361 PMID:34793666 PMID:34805717 PMID:34885220 PMID:34907344 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35264596 PMID:35323354 PMID:35367578 PMID:35512711 PMID:35820297 PMID:35938033 PMID:35974385 PMID:36003761 PMID:36219266 PMID:36329109 PMID:36988593 More...
|
|
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
|
|
G |
U2AF1 |
U2 small nuclear RNA auxiliary factor 1 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
ClinVar |
PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011 |
|
NCBI chr21:29,399,601...29,414,156
Ensembl chr21:42,707,738...42,719,086
|
|
G |
VAMP7 |
vesicle associated membrane protein 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23358896 |
|
NCBI chr X:145,362,432...145,425,097
Ensembl chr X:155,257,185...155,320,215
|
|
G |
WEE1 |
WEE1 G2 checkpoint kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25125259 |
|
NCBI chr11:9,706,531...9,722,528
|
|
G |
WRAP53 |
WD repeat containing antisense to TP53 |
treatment |
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
RGD ClinVar |
PMID:25070141 PMID:25456005 |
RGD:21081529 RGD:21081533 |
NCBI chr17:7,715,897...7,735,873
Ensembl chr17:7,707,221...7,723,394
|
|
G |
YAP1 |
Yes1 associated transcriptional regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20729916 |
|
NCBI chr11:97,061,367...97,186,961
Ensembl chr11:100,552,424...100,681,301
|
|
|
G |
CXCR4 |
C-X-C motif chemokine receptor 4 |
|
ISO |
mRNA,protein:increased expression:temporal lobe : |
RGD |
PMID:27388534 |
RGD:155641257 |
NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647
|
|
G |
DLL4 |
delta like canonical Notch ligand 4 |
|
ISO |
mRNA,protein:increased expression:temporal lobe : |
RGD |
PMID:27388534 |
RGD:155641257 |
NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471
|
|
G |
HEY1 |
hes related family bHLH transcription factor with YRPW motif 1 |
|
ISO |
mRNA,protein:increased expression:temporal lobe : |
RGD |
PMID:27388534 |
RGD:155641257 |
NCBI chr 8:76,286,433...76,290,507
Ensembl chr 8:77,913,761...77,921,201
|
|
G |
HIF1A |
hypoxia inducible factor 1 subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15341671 |
|
NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
|
|
G |
NDRG1 |
N-myc downstream regulated 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15341671 |
|
NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514
|
|
G |
NOTCH4 |
notch receptor 4 |
|
ISO |
mRNA,protein:increased expression:temporal lobe : |
RGD |
PMID:27388534 |
RGD:155641257 |
NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978
|
|
|
G |
FOXO1 |
forkhead box O1 |
|
ISO |
|
RGD |
PMID:17254969 |
RGD:155630604 |
NCBI chr13:21,763,729...21,874,279
|
|
G |
FOXO3 |
forkhead box O3 |
|
ISO |
|
RGD |
PMID:17254969 |
RGD:155630604 |
NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272
|
|
G |
FOXO4 |
forkhead box O4 |
|
ISO |
|
RGD |
PMID:17254969 |
RGD:155630604 |
NCBI chr X:60,364,466...60,372,147
Ensembl chr X:70,422,504...70,429,971
|
|
G |
FOXP1 |
forkhead box P1 |
|
ISO |
ClinVar Annotator: match by term: Glabellar hemangioma |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173
|
|
G |
IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22057234 |
|
NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175
|
|
G |
IDH2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22057234 |
|
NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
|
|
G |
MMP2 |
matrix metallopeptidase 2 |
|
ISO |
|
RGD |
PMID:19821096 |
RGD:8657063 |
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
|
|
G |
NOTCH1 |
notch receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Hemangioma |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
|
|
G |
PTEN |
phosphatase and tensin homolog |
|
ISO |
ClinVar Annotator: match by term: Hemangioma |
ClinVar |
PMID:9467011 PMID:21194675 PMID:28492532 |
|
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
|
|
G |
SLC2A1 |
solute carrier family 2 member 1 |
|
ISO |
|
RGD |
PMID:10665907 |
RGD:12879499 |
NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
|
|
G |
SRD5A3 |
steroid 5 alpha-reductase 3 |
|
ISO |
ClinVar Annotator: match by term: Hemangioma |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:68,565,400...68,591,400
Ensembl chr 4:75,131,196...75,155,347
|
|
G |
TSC2 |
TSC complex subunit 2 |
|
ISO |
|
RGD |
PMID:10096549 |
RGD:11568655 |
NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
|
|
G |
YAP1 |
Yes1 associated transcriptional regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31351048 |
|
NCBI chr11:97,061,367...97,186,961
Ensembl chr11:100,552,424...100,681,301
|
|
|
G |
GJA4 |
gap junction protein alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Hepatic hemangioma |
ClinVar |
PMID:33912852 |
|
NCBI chr 1:34,059,901...34,063,181
|
|
|
G |
TSC2 |
TSC complex subunit 2 |
|
ISO |
DNA:mutations:multiple associated with tuberous sclerosis;DNA:mutations:multiple |
RGD |
PMID:22251200 PMID:29512829 |
RGD:21079730 RGD:21079732 |
NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
|
|
|
G |
CARM1 |
coactivator associated arginine methyltransferase 1 |
|
ISO |
mRNA,protein:increased expression:liver: |
RGD |
PMID:23912631 |
RGD:9586718 |
NCBI chr19:10,424,993...10,476,702
Ensembl chr19:11,144,733...11,195,948
|
|
G |
CDKN1B |
cyclin dependent kinase inhibitor 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17620307 |
|
NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541
|
|
G |
CTNNB1 |
catenin beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21147764 |
|
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
|
|
G |
CYP2E1 |
cytochrome P450 family 2 subfamily E member 1 |
treatment |
ISO |
|
RGD |
PMID:23543859 |
RGD:14700918 |
Ensembl chr10:134,839,025...134,852,719
|
|
G |
HNF1A |
HNF1 homeobox A |
susceptibility exacerbates |
ISO |
DNA:frameshift mutation, non-sense mutation:cds:R229X, G55fsX57 (human) DNA:mutation: (human) DNA:loss of heterozygosity, mutations:multiple |
RGD |
PMID:12355088 PMID:14598263 PMID:17663417 |
RGD:14700683 RGD:14700774 RGD:150530291 |
NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911
|
|
G |
HRAS |
HRas proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8200073 |
|
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
|
|
G |
KRAS |
KRAS proto-oncogene, GTPase |
induced |
ISO |
aflatoxin B1 induced:DNA:transversion,transition mutations:cds: |
RGD |
PMID:8446626 |
RGD:11568697 |
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
|
|
G |
LOC100979269 |
alpha-2-macroglobulin |
|
ISO |
CTD Direct Evidence: marker/mechanism mRNA,protein:increased expression:liver: |
CTD RGD |
PMID:15509519 |
RGD:1358261 |
NCBI chr12:9,154,457...9,202,833
Ensembl chr12:9,385,359...9,433,979
|
|
G |
MAP3K8 |
mitogen-activated protein kinase kinase kinase 8 |
ameliorates |
ISO |
|
RGD |
PMID:26560698 |
RGD:11342977 |
NCBI chr10:30,579,220...30,607,249
Ensembl chr10:30,933,483...30,960,824
|
|
G |
MKI67 |
marker of proliferation Ki-67 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31939706 |
|
NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555
|
|
G |
NR1H4 |
nuclear receptor subfamily 1 group H member 4 |
|
ISO |
|
RGD |
PMID:17183066 |
RGD:14696794 |
NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058
|
|
G |
NR1I3 |
nuclear receptor subfamily 1 group I member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25656644 |
|
NCBI chr 1:136,642,126...136,651,074
Ensembl chr 1:140,553,951...140,562,799
|
|
G |
PTEN |
phosphatase and tensin homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15199412 PMID:27022031 |
RGD:1302555 |
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
|
|
G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
|
ISO |
|
MouseDO |
|
|
NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
|
|
G |
TMEM70 |
transmembrane protein 70 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27914986 |
|
NCBI chr 8:70,509,897...70,515,605
Ensembl chr 8:72,154,872...72,163,239
|
|
G |
UBE2E2 |
ubiquitin conjugating enzyme E2 E2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27914986 |
|
NCBI chr 3:23,121,699...23,502,329
Ensembl chr 3:23,446,158...23,825,277
|
|
|
G |
APC |
APC regulator of WNT signaling pathway |
|
ISO |
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation |
OMIM ClinVar |
PMID:1316610 PMID:1324223 PMID:1338764 PMID:1944466 PMID:2068566 PMID:7485167 PMID:7524601 PMID:7661930 PMID:7833149 PMID:8162022 PMID:8162051 PMID:8187091 PMID:8381579 PMID:8381580 PMID:8594558 PMID:8730280 PMID:8844222 PMID:8940264 PMID:8990002 PMID:9101302 PMID:9342373 PMID:9375853 PMID:9536098 PMID:9585611 PMID:9664575 PMID:9669663 PMID:9824584 PMID:9950360 PMID:10077047 PMID:10077730 PMID:10083733 PMID:10094547 PMID:10470088 PMID:10713886 PMID:10768871 PMID:10782927 PMID:11001924 PMID:11247896 PMID:11317365 PMID:11668620 PMID:11741105 PMID:11748858 PMID:11933206 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12173026 PMID:12357334 PMID:12901799 PMID:14523376 PMID:15024739 PMID:15108286 PMID:15108288 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15857185 PMID:15951963 PMID:16088911 PMID:16134147 PMID:16199547 PMID:16292097 PMID:16317745 PMID:16461775 PMID:17293347 PMID:17411426 PMID:17486639 PMID:17489848 PMID:17576681 PMID:17604324 PMID:17785554 PMID:17963004 PMID:18155426 PMID:18199528 PMID:18433509 PMID:19029688 PMID:19196998 PMID:19279422 PMID:19444466 PMID:19531215 PMID:19793053 PMID:20223039 PMID:20301519 PMID:20513532 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21110124 PMID:21153778 PMID:21643010 PMID:21779980 PMID:21859464 PMID:21901162 PMID:21995949 PMID:22135120 PMID:22425061 PMID:22431159 PMID:22447671 PMID:22703879 PMID:22864938 PMID:22987206 PMID:23116752 PMID:23159591 PMID:23460355 PMID:23484150 PMID:23970361 PMID:24033266 PMID:24055113 PMID:24123366 PMID:24448499 PMID:24573554 PMID:24599579 PMID:24728327 PMID:24735542 PMID:25085752 PMID:25186627 PMID:25203624 PMID:25318351 PMID:25479140 PMID:25525159 PMID:25559809 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25778705 PMID:25801821 PMID:25925381 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26138249 PMID:26207792 PMID:26300997 PMID:26320869 PMID:26332594 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26493165 PMID:26510091 PMID:26517685 PMID:26580448 PMID:26613750 PMID:26681312 PMID:26690363 PMID:26845104 PMID:26900293 PMID:26976419 PMID:27028212 PMID:27081525 PMID:27150160 PMID:27153395 PMID:27302369 PMID:27498913 PMID:27600092 PMID:27621404 PMID:27852271 PMID:27878467 PMID:27978560 PMID:28125075 PMID:28127413 PMID:28135145 PMID:28202063 PMID:28283864 PMID:28301460 PMID:28492532 PMID:28526081 PMID:28608266 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29122597 PMID:29212164 PMID:29367705 PMID:29419868 PMID:29641532 PMID:29684080 PMID:29915797 PMID:29945567 PMID:30267214 PMID:30374176 PMID:30613976 PMID:30897307 PMID:31054147 PMID:31069152 PMID:31159747 PMID:31278746 PMID:31422818 PMID:31428572 PMID:31570899 PMID:31613886 PMID:31854063 PMID:31874108 PMID:31942411 PMID:32658311 PMID:32980694 PMID:33279946 PMID:33294277 PMID:33309985 PMID:33352971 PMID:33670833 PMID:34326862 PMID:34426522 PMID:34479915 PMID:34666312 PMID:34707284 PMID:35142982 PMID:35189564 PMID:35264596 PMID:35430768 PMID:36243179 PMID:36586069 PMID:36988593 More...
|
|
NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
|
|
G |
CTNNB1 |
catenin beta 1 |
|
ISO |
ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation |
ClinVar |
PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26619011 PMID:26822237 More...
|
|
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
|
|
|
G |
CHML |
CHM like Rab escort protein |
|
ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
|
NCBI chr 1:217,191,065...217,202,578
|
|
G |
CHRM3 |
cholinergic receptor muscarinic 3 |
|
ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
|
NCBI chr 1:214,931,514...215,452,739
|
|
G |
EXO1 |
exonuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
|
NCBI chr 1:217,410,175...217,451,982
Ensembl chr 1:222,389,684...222,431,556
|
|
G |
FH |
fumarate hydratase |
|
ISO |
ClinVar Annotator: match by term: FH-related condition | ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
OMIM ClinVar |
PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 PMID:10896297 PMID:11865300 PMID:12761039 PMID:12772087 PMID:14632190 PMID:15221078 PMID:15663510 PMID:15761418 PMID:15937070 PMID:15987702 PMID:16029320 PMID:16151915 PMID:16199547 PMID:16237213 PMID:16309500 PMID:16510303 PMID:16575891 PMID:16597677 PMID:16639410 PMID:16757530 PMID:16876016 PMID:16881969 PMID:17182618 PMID:17270241 PMID:17392716 PMID:17576681 PMID:17908262 PMID:17960613 PMID:18176756 PMID:18313410 PMID:18366737 PMID:18414213 PMID:18514489 PMID:19151755 PMID:19183174 PMID:19939761 PMID:19967458 PMID:20109171 PMID:20301679 PMID:20549362 PMID:20618355 PMID:21051878 PMID:21304509 PMID:21398687 PMID:21404119 PMID:21445611 PMID:21447597 PMID:21520333 PMID:21560188 PMID:21630274 PMID:21733559 PMID:21929734 PMID:22069215 PMID:22086304 PMID:22127509 PMID:22243733 PMID:22473397 PMID:22528940 PMID:22561013 PMID:22565324 PMID:22595425 PMID:22677546 PMID:22703879 PMID:22764886 PMID:22982371 PMID:23203078 PMID:23211287 PMID:23612258 PMID:23707781 PMID:24182348 PMID:24334767 PMID:24346898 PMID:24419633 PMID:24441663 PMID:24625422 PMID:24684806 PMID:24728327 PMID:25004247 PMID:25292446 PMID:25477250 PMID:25525159 PMID:25637381 PMID:25741868 PMID:25750977 PMID:25790038 PMID:25852058 PMID:25923021 PMID:25985877 PMID:26023681 PMID:26113603 PMID:26173633 PMID:26237645 PMID:26296701 PMID:26323704 PMID:26457356 PMID:26467025 PMID:26556299 PMID:26900816 PMID:26945337 PMID:27037871 PMID:27541980 PMID:28300276 PMID:28371217 PMID:28400895 PMID:28492532 PMID:28592321 PMID:28747166 PMID:28748451 PMID:28825054 PMID:28873162 PMID:29052812 PMID:29174943 PMID:29423582 PMID:29456767 PMID:29530542 PMID:29625052 PMID:29641532 PMID:29893455 PMID:29909963 PMID:29978187 PMID:30050099 PMID:30171332 PMID:30548481 PMID:30741757 PMID:30761759 PMID:30877234 PMID:30967997 PMID:31162287 PMID:31299266 PMID:31444830 PMID:31524643 PMID:31636096 PMID:31746132 PMID:31794323 PMID:31831373 PMID:32008151 PMID:32012241 PMID:32154112 PMID:32612247 PMID:32782288 PMID:32808982 PMID:32999401 PMID:33052056 PMID:33063682 PMID:33166576 PMID:33167498 PMID:33402335 PMID:33439686 PMID:33442023 PMID:33606809 PMID:33789101 PMID:33858029 PMID:33927380 PMID:34196900 PMID:34308104 PMID:34337822 PMID:34604083 PMID:34643235 PMID:34654685 PMID:34994643 PMID:35163394 PMID:35216667 PMID:35251648 PMID:35441217 PMID:35626031 PMID:35806449 PMID:35874919 PMID:35993574 PMID:36315513 PMID:36451132 PMID:36773955 PMID:37053010 More...
|
|
NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212
|
|
G |
FMN2 |
formin 2 |
|
ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
|
NCBI chr 1:215,626,889...216,023,590
|
|
G |
GREM2 |
gremlin 2, DAN family BMP antagonist |
|
ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
|
NCBI chr 1:216,037,977...216,163,020
Ensembl chr 1:221,026,605...221,027,111
|
|
G |
KMO |
kynurenine 3-monooxygenase |
|
ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
|
NCBI chr 1:217,094,037...217,157,827
Ensembl chr 1:222,075,268...222,138,866
|
|
G |
MAP1LC3C |
microtubule associated protein 1 light chain 3 gamma |
|
ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
|
NCBI chr 1:217,558,010...217,562,485
Ensembl chr 1:222,537,401...222,541,244
|
|
G |
OPN3 |
opsin 3 |
|
ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
|
NCBI chr 1:217,155,765...217,202,577
Ensembl chr 1:222,136,422...222,184,598
|
|
G |
PLD5 |
phospholipase D family member 5 |
|
ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
|
NCBI chr 1:217,640,005...218,081,158
|
|
G |
RGS7 |
regulator of G protein signaling 7 |
|
ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
|
NCBI chr 1:216,329,373...216,919,898
Ensembl chr 1:221,313,924...221,899,627
|
|
G |
RYR2 |
ryanodine receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
|
NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509
|
|
G |
WDR64 |
WD repeat domain 64 |
|
ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
|
NCBI chr 1:217,214,176...217,364,983
Ensembl chr 1:222,194,990...222,344,758
|
|
G |
ZP4 |
zona pellucida glycoprotein 4 |
|
ISO |
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer |
ClinVar |
PMID:29909963 |
|
NCBI chr 1:213,435,888...213,444,439
Ensembl chr 1:218,428,967...218,442,383
|
|
|
G |
GREM1 |
gremlin 1, DAN family BMP antagonist |
|
ISO |
ClinVar Annotator: match by term: Hereditary mixed polyposis syndrome |
ClinVar |
PMID:33208383 |
|
NCBI chr15:11,213,870...11,230,619
|
|
G |
SCG5 |
secretogranin V |
|
ISO |
ClinVar Annotator: match by term: Hereditary mixed polyposis syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:11,136,920...11,192,606
Ensembl chr15:29,974,633...30,030,291
|
|
|
G |
BRCA1 |
BRCA1 DNA repair associated |
|
ISO |
ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 |
ClinVar |
|
|
NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815
|
|
G |
BRCA2 |
BRCA2 DNA repair associated |
|
ISO |
ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 |
ClinVar |
|
|
NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
|
|
G |
CTNNA1 |
catenin alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 |
ClinVar |
PMID:28492532 PMID:32051609 PMID:34425242 |
|
NCBI chr 5:134,134,944...134,313,239
Ensembl chr 5:140,261,883...140,438,547
|
|
G |
SCG5 |
secretogranin V |
|
ISO |
ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1 |
ClinVar |
PMID:22561515 |
|
NCBI chr15:11,136,920...11,192,606
Ensembl chr15:29,974,633...30,030,291
|
|
|
G |
BMPR1A |
bone morphogenetic protein receptor type 1A |
|
ISO |
ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 2 |
OMIM ClinVar |
PMID:2658044 PMID:9536098 PMID:10881198 PMID:11536076 PMID:12417513 PMID:12676908 PMID:14526373 PMID:15235019 PMID:16199547 PMID:16525031 PMID:17325551 PMID:17576681 PMID:17873119 PMID:18178612 PMID:18823382 PMID:20845481 PMID:22703879 PMID:23399955 PMID:23433720 PMID:24055113 PMID:24728327 PMID:25058500 PMID:25117502 PMID:25186627 PMID:25525159 PMID:25530832 PMID:25637381 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26580448 PMID:26845104 PMID:26976419 PMID:27146957 PMID:28135145 PMID:28492532 PMID:28660566 PMID:28717660 PMID:29596542 PMID:29641532 PMID:30029678 PMID:30093976 PMID:30306255 PMID:30680046 PMID:30884445 PMID:31159747 PMID:31727138 PMID:31769494 PMID:32522261 PMID:33032550 PMID:33110269 PMID:33821390 PMID:36049049 PMID:36243179 More...
|
|
NCBI chr10:83,185,040...83,353,239
Ensembl chr10:86,837,469...86,912,912
|
|
|
G |
AARD |
alanine and arginine rich domain containing protein |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:113,610,223...113,619,903
|
|
G |
CCN3 |
cellular communication network factor 3 |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:116,105,935...116,114,241
Ensembl chr 8:118,855,445...118,865,039
|
|
G |
COLEC10 |
collectin subfamily member 10 |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:115,758,592...115,798,548
Ensembl chr 8:118,277,484...118,317,271
|
|
G |
EIF3H |
eukaryotic translation initiation factor 3 subunit H |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:113,320,059...113,440,769
Ensembl chr 8:115,863,490...115,973,872
|
|
G |
ENPP2 |
ectonucleotide pyrophosphatase/phosphodiesterase 2 |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:116,248,587...116,364,966
Ensembl chr 8:118,998,530...119,114,273
|
|
G |
EXT1 |
exostosin glycosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Hereditary Multiple Osteochondromatosis | ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas |
ClinVar |
PMID:1816274 PMID:7550340 PMID:8981950 PMID:9150727 PMID:9326317 PMID:9463333 PMID:9521425 PMID:9536098 PMID:9620772 PMID:10480354 PMID:10639137 PMID:10679296 PMID:10679937 PMID:10713884 PMID:11170095 PMID:11342960 PMID:11391482 PMID:11432960 PMID:11668521 PMID:12032595 PMID:12239711 PMID:12490068 PMID:15221792 PMID:15253765 PMID:15586175 PMID:16088908 PMID:16199547 PMID:16283885 PMID:17041877 PMID:17301954 PMID:17576681 PMID:17589361 PMID:18165274 PMID:18330718 PMID:18373409 PMID:18976157 PMID:19344451 PMID:19810120 PMID:19819120 PMID:19839753 PMID:20025490 PMID:20418910 PMID:21039224 PMID:21499719 PMID:21520333 PMID:21703028 PMID:22258776 PMID:22382802 PMID:22820392 PMID:22913777 PMID:23262345 PMID:23439489 PMID:23629877 PMID:24120389 PMID:24496678 PMID:24532482 PMID:24728327 PMID:25230886 PMID:25468659 PMID:25520924 PMID:25525159 PMID:25541963 PMID:25640679 PMID:25727835 PMID:25741868 PMID:26239617 PMID:26515642 PMID:26622573 PMID:26690531 PMID:26839764 PMID:26961984 PMID:28492532 PMID:28600779 PMID:28604967 PMID:28690282 PMID:29126381 PMID:29529714 PMID:29620724 PMID:29989442 PMID:30334991 PMID:30806661 PMID:31096510 PMID:33632255 PMID:33726816 More...
|
|
NCBI chr 8:114,489,325...114,803,763
Ensembl chr 8:117,011,919...117,324,851
|
|
G |
EXT2 |
exostosin glycosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar Annotator: match by term: Multiple osteochondromas |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
|
NCBI chr11:44,055,670...44,204,055
Ensembl chr11:44,522,797...44,699,447
|
|
G |
MAL2 |
mal, T cell differentiation protein 2 |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:115,894,617...115,935,359
Ensembl chr 8:118,413,391...118,452,972
|
|
G |
MED30 |
mediator complex subunit 30 |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:114,211,278...114,230,838
Ensembl chr 8:116,732,283...116,752,249
|
|
G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21533187 |
|
NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
|
|
G |
RAD21 |
RAD21 cohesin complex component |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:113,520,456...113,549,339
Ensembl chr 8:116,063,503...116,092,421
|
|
G |
SAMD12 |
sterile alpha motif domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:114,823,792...115,312,738
|
|
G |
SLC30A8 |
solute carrier family 30 member 8 |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:113,624,785...113,851,633
Ensembl chr 8:116,223,595...116,394,095
|
|
G |
TAF2 |
TATA-box binding protein associated factor 2 |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:116,421,520...116,523,138
Ensembl chr 8:119,170,327...119,271,405
|
|
G |
TNFRSF11B |
TNF receptor superfamily member 11b |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422
|
|
G |
UTP23 |
UTP23 small subunit processome component |
|
ISO |
ClinVar Annotator: match by term: Multiple congenital exostosis |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:113,441,014...113,462,103
Ensembl chr 8:115,984,167...116,066,606
|
|
|
G |
B3GALT2 |
beta-1,3-galactosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors |
ClinVar |
PMID:25637381 |
|
NCBI chr 1:168,638,291...168,645,893
Ensembl chr 1:172,928,889...172,934,683
|
|
G |
CDC73 |
cell division cycle 73 |
|
ISO |
ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors |
OMIM ClinVar |
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 PMID:15613436 PMID:17065424 PMID:20052758 PMID:20301744 PMID:21652691 PMID:25637381 PMID:25741868 PMID:28492532 PMID:29641532 More...
|
|
NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934
|
|
|
G |
KRT10 |
keratin 10 |
|
ISO |
|
OMIM |
|
|
NCBI chr17:16,461,624...16,466,136
Ensembl chr17:16,686,898...16,690,415
|
|
|
G |
ANTXR1 |
ANTXR cell adhesion molecule 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Capillary infantile hemangioma |
ClinVar OMIM |
PMID:18931684 PMID:25741868 PMID:28492532 |
|
NCBI chr2A:69,054,253...69,290,554
Ensembl chr2A:70,175,982...70,412,454
|
|
G |
CCNH |
cyclin H |
|
ISO |
ClinVar Annotator: match by term: Capillary infantile hemangioma |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149
|
|
G |
FAT4 |
FAT atypical cadherin 4 |
|
ISO |
ClinVar Annotator: match by term: Capillary infantile hemangioma |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407
|
|
G |
FLT4 |
fms related receptor tyrosine kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Capillary infantile hemangioma |
OMIM ClinVar |
PMID:11807987 PMID:25741868 PMID:28492532 |
|
NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006
|
|
G |
KDR |
kinase insert domain receptor |
susceptibility |
ISO |
ClinVar Annotator: match by term: Capillary infantile hemangioma |
ClinVar OMIM |
PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 |
|
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
|
|
G |
MYH9 |
myosin heavy chain 9 |
|
ISO |
ClinVar Annotator: match by term: Capillary infantile hemangioma |
ClinVar |
PMID:28492532 |
|
NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
|
|
G |
RASA1 |
RAS p21 protein activator 1 |
|
ISO |
ClinVar Annotator: match by term: Capillary infantile hemangioma |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321
|
|
G |
SLC2A1 |
solute carrier family 2 member 1 |
|
ISO |
|
RGD |
PMID:17554865 |
RGD:12879502 |
NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
|
|
G |
VEGFA |
vascular endothelial growth factor A |
disease_progression |
ISO |
|
RGD |
PMID:26957058 |
RGD:155663370 |
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
|
|
|
G |
ADM |
adrenomedullin |
|
ISO |
protein:increased expression:pancreas, plasma |
RGD |
PMID:11331218 |
RGD:2325319 |
NCBI chr11:10,437,712...10,440,053
Ensembl chr11:10,165,418...10,167,842
|
|
G |
BTC |
betacellulin |
|
ISO |
protein:increased expression:pancreas |
RGD |
PMID:10724350 |
RGD:2326087 |
NCBI chr 4:49,329,413...49,462,891
Ensembl chr 4:55,242,899...55,298,773
|
|
G |
CD40 |
CD40 molecule |
|
ISO |
|
RGD |
PMID:17982058 |
RGD:5491180 |
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
|
|
G |
CUX1 |
cut like homeobox 1 |
disease_progression exacerbates |
ISO |
mRNA:increased expression:pancreas (mouse) protein:increased expression:pancreas (human) |
RGD |
PMID:25248790 |
RGD:152985543 |
NCBI chr 7:93,954,599...94,432,697
Ensembl chr 7:107,191,124...107,609,940
|
|
G |
CXCL12 |
C-X-C motif chemokine ligand 12 |
|
ISO |
protein:increased expression:pancreas |
RGD |
PMID:19013212 |
RGD:2317608 |
NCBI chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231
|
|
G |
INS |
insulin |
|
ISO |
protein:altered expression:blood protein:altered localization:pancreas |
RGD |
PMID:2565624 PMID:8175958 |
RGD:2317266 RGD:2317268 |
NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
|
|
G |
LOC100979953 |
small ribosomal subunit protein uS19 |
|
ISO |
|
RGD |
PMID:3019805 |
RGD:61740 |
|
|
G |
MEN1 |
menin 1 |
disease_progression |
ISO |
DNA:deletion:exon CTD Direct Evidence: marker/mechanism DNA:deletions:exons |
RGD CTD |
PMID:12941803 PMID:17961653 PMID:19208834 PMID:20138042 |
RGD:2317288 RGD:2317292 RGD:2317310 |
NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164
|
|
G |
NCAM1 |
neural cell adhesion molecule 1 |
|
ISO |
protein:increased expression:pancreas |
RGD |
PMID:8972754 |
RGD:2326080 |
NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401
|
|
G |
SLC2A2 |
solute carrier family 2 member 2 |
|
ISO |
mRNA:decreased expression:pancreatic islet protein:increased expression:pancreatic B cell |
RGD |
PMID:8421107 PMID:12114701 |
RGD:2324976 RGD:2324977 |
NCBI chr 3:168,002,609...168,033,237
Ensembl chr 3:176,188,184...176,218,722
|
|
G |
TGFA |
transforming growth factor alpha |
|
ISO |
protein:increased expression:pancreas |
RGD |
PMID:8712689 |
RGD:2317472 |
NCBI chr2A:70,510,727...70,617,628
Ensembl chr2A:71,625,196...71,731,461
|
|
G |
TGFB1 |
transforming growth factor beta 1 |
|
ISO |
mRNA, protein:decreased expression:pancreatic islet |
RGD |
PMID:18058603 |
RGD:2325017 |
NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
|
|
|
G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
|
ISO |
protein:increased expression:nucleus: |
RGD |
PMID:19863319 PMID:21608063 |
RGD:8662353 RGD:8662357 |
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
|
|
G |
HGF |
hepatocyte growth factor |
|
ISO |
protein:increased expression:inferior nasal concha: |
RGD |
PMID:22730814 |
RGD:8548614 |
NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
|
|
G |
KDR |
kinase insert domain receptor |
|
ISO |
protein:increased expression:inferior nasal concha: |
RGD |
PMID:12541477 |
RGD:8551779 |
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
|
|
G |
VEGFA |
vascular endothelial growth factor A |
|
ISO |
protein:increased expression:inferior nasal concha: |
RGD |
PMID:12541477 |
RGD:8551779 |
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
|
|
|
G |
MAFA |
MAF bZIP transcription factor A |
|
ISO |
ClinVar Annotator: match by term: Islet cell adenomatosis |
OMIM ClinVar |
PMID:25741868 PMID:29339498 PMID:35406570 |
|
NCBI chr 8:140,178,322...140,181,152
|
|
|
G |
NFATC2 |
nuclear factor of activated T cells 2 |
|
ISO |
|
OMIM |
|
|
NCBI chr20:47,734,054...47,910,435
Ensembl chr20:48,858,238...49,034,007
|
|
|
G |
FGF2 |
fibroblast growth factor 2 |
|
ISO |
|
RGD |
PMID:14517397 |
RGD:8655667 |
NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
|
|
G |
GNA14 |
G protein subunit alpha 14 |
|
ISO |
ClinVar Annotator: match by term: Kaposiform hemangioendothelioma |
ClinVar |
PMID:25741868 PMID:27476652 |
|
NCBI chr 9:47,196,338...47,423,388
|
|
|
G |
NOTCH1 |
notch receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Keratoacanthoma |
ClinVar |
PMID:27283355 |
|
NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
|
|
G |
NOTCH2 |
notch receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Keratoacanthoma |
ClinVar |
PMID:27283355 |
|
NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840
|
|
G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Keratoacanthoma |
ClinVar |
PMID:22949682 PMID:23246288 PMID:25741868 PMID:26619011 PMID:27283355 PMID:28151489 PMID:28492532 More...
|
|
NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
|
|
|
G |
MTOR |
mechanistic target of rapamycin kinase |
treatment |
ISO |
associated with Tuberous Sclerosis |
RGD |
PMID:23054313 |
RGD:7245506 |
NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
|
|
|
G |
HSPG2 |
heparan sulfate proteoglycan 2 |
|
ISO |
ClinVar Annotator: match by term: Lethal Kniest-like syndrome |
ClinVar |
PMID:9536098 PMID:11279527 PMID:17576681 PMID:24088041 PMID:24781210 PMID:25504735 PMID:25741868 PMID:25741881 PMID:25803036 PMID:26467025 PMID:26508570 PMID:26633545 PMID:28242392 PMID:28492532 PMID:29271572 PMID:29620724 PMID:29901129 PMID:30362252 PMID:34244600 PMID:34906502 PMID:35982159 More...
|
|
NCBI chr 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400
|
|
G |
LDLRAD2 |
low density lipoprotein receptor class A domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Lethal Kniest-like syndrome |
ClinVar |
PMID:25504735 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 1:21,005,437...21,014,421
Ensembl chr 1:21,969,991...21,980,470
|
|
|
G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
|
RGD |
PMID:19736197 |
RGD:5135499 |
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
|
|
G |
SERPINA3 |
serpin family A member 3 |
|
ISO |
protein:decreased expression:serum |
RGD |
PMID:16273852 |
RGD:5147435 |
NCBI chr14:75,220,252...75,247,996
Ensembl chr14:94,551,934...94,579,515
|
|
G |
TAP1 |
transporter 1, ATP binding cassette subfamily B member |
|
ISO |
|
RGD |
PMID:10618282 |
RGD:5147846 |
NCBI chr 6:32,414,665...32,423,488
Ensembl chr 6:33,530,171...33,538,978
|
|
|
G |
ADA |
adenosine deaminase |
|
ISO |
protein:decreased activity:larynx |
RGD |
PMID:8138195 |
RGD:152995273 |
NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
|
|
G |
CAT |
catalase |
|
ISO |
protein:increased activity:larynx |
RGD |
PMID:8138195 |
RGD:152995273 |
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
|
|
G |
CDC73 |
cell division cycle 73 |
disease_progression |
ISO |
protein:decreased expression:larynx (human) |
RGD |
PMID:27334641 |
RGD:150539447 |
NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934
|
|
G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
|
ISO |
|
RGD |
PMID:15646812 |
RGD:8662837 |
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
|
|
G |
CHD4 |
chromodomain helicase DNA binding protein 4 |
exacerbates |
ISO |
mRNA:increased expression:larynx (human) |
RGD |
PMID:33315534 |
RGD:153323310 |
NCBI chr12:6,701,004...6,738,621
Ensembl chr12:6,619,089...6,656,076
|
|
G |
EGFR |
epidermal growth factor receptor |
disease_progression |
ISO |
|
RGD |
PMID:22549618 |
RGD:126790474 |
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
|
|
G |
ERBB2 |
erb-b2 receptor tyrosine kinase 2 |
disease_progression |
ISO |
|
RGD |
PMID:22549618 |
RGD:126790474 |
NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
|
|
G |
ERBB3 |
erb-b2 receptor tyrosine kinase 3 |
disease_progression |
ISO |
|
RGD |
PMID:22549618 |
RGD:126790474 |
NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994
|
|
G |
ERBB4 |
erb-b2 receptor tyrosine kinase 4 |
disease_progression |
ISO |
|
RGD |
PMID:22549618 |
RGD:126790474 |
NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
|
|
G |
FOXL2 |
forkhead box L2 |
exacerbates |
ISO |
mRNA:increased expression:larynx (human) |
RGD |
PMID:32517588 |
RGD:151667913 |
NCBI chr 3:135,968,040...135,980,063
|
|
G |
GPX1 |
glutathione peroxidase 1 |
disease_progression no_association |
ISO |
protein:increased expression:larynx (human) DNA:missense mutation:CDS:p.P198L (human) DNA:missense mutation:CDS:p.P198L (rs1050450) (human) |
RGD |
PMID:24074040 PMID:27188866 PMID:28641905 |
RGD:152995454 RGD:152995455 RGD:152995493 |
NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
|
|
G |
MAP2K4 |
mitogen-activated protein kinase kinase 4 |
severity |
ISO |
associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human) |
RGD |
PMID:19513509 |
RGD:150429781 |
NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909
|
|
G |
MLH1 |
mutL homolog 1 |
disease_progression |
ISO |
mRNA:decreased expression:larynx |
RGD |
PMID:23787767 |
RGD:126848783 |
NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
|
|
G |
MMP2 |
matrix metallopeptidase 2 |
|
ISO |
|
RGD |
PMID:17786346 |
RGD:5130203 |
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
|
|
G |
MSH2 |
mutS homolog 2 |
disease_progression |
ISO |
mRNA:decreased expression:larynx |
RGD |
PMID:23787767 |
RGD:126848783 |
NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
|
|
G |
NAT2 |
N-acetyltransferase 2 |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:16155914 PMID:19922706 |
RGD:5131602 RGD:5131856 |
NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327
|
|
G |
PLCG1 |
phospholipase C gamma 1 |
ameliorates |
ISO |
mRNA:increased expression:larynx (human) |
RGD |
PMID:33466212 |
RGD:151665160 |
NCBI chr20:37,477,077...37,515,854
Ensembl chr20:38,572,709...38,615,145
|
|
G |
RELA |
RELA proto-oncogene, NF-kB subunit |
severity |
ISO |
associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human) |
RGD |
PMID:19513509 |
RGD:150429781 |
NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
|
|
G |
XDH |
xanthine dehydrogenase |
|
ISO |
protein:increased activity:larynx |
RGD |
PMID:8138195 |
RGD:152995273 |
NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455
|
|
G |
XRCC1 |
X-ray repair cross complementing 1 |
|
ISO |
ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma |
ClinVar |
|
|
NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
|
|
|
G |
AR |
androgen receptor |
|
ISO |
|
RGD |
PMID:15704521 |
RGD:1578690 |
NCBI chr X:56,722,828...56,909,004
Ensembl chr X:66,791,081...66,969,357
|
|
G |
BAK1 |
BCL2 antagonist/killer 1 |
|
ISO |
associated with Carcinoma, Renal Cell;protein:decreased expression:myometrium |
RGD |
PMID:16962107 |
RGD:1643479 |
NCBI chr 6:33,146,998...33,154,755
Ensembl chr 6:34,255,769...34,263,211
|
|
G |
BAX |
BCL2 associated X, apoptosis regulator |
treatment |
ISO |
|
RGD |
PMID:23789224 |
RGD:10054112 |
NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
|
|
G |
BCL2 |
BCL2 apoptosis regulator |
treatment |
ISO |
protein:increased expression:myometrium |
RGD |
PMID:16962107 PMID:23789224 |
RGD:10054112 RGD:1643479 |
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
|
|
G |
BCL2L1 |
BCL2 like 1 |
|
ISO |
associated with Carcinoma, Renal Cell;protein:increased expression:myometrium |
RGD |
PMID:16962107 |
RGD:1643479 |
NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
|
|
G |
CAV1 |
caveolin 1 |
|
ISO |
protein:increased expression:uterus |
RGD |
PMID:17952758 |
RGD:2296031 |
NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
|
|
G |
CCNG1 |
cyclin G1 |
|
ISO |
mRNA, protein:increased expression:uterus, myometrium |
RGD |
PMID:12634633 |
RGD:2316023 |
NCBI chr 5:158,814,563...158,822,019
Ensembl chr 5:165,592,971...165,598,728
|
|
G |
COMT |
catechol-O-methyltransferase |
susceptibility |
ISO |
associated with Uterine Neoplasms;DNA:polymorphism: :p.V158M protein:increased expression:myometrium |
RGD |
PMID:16443508 PMID:16730007 |
RGD:2289717 RGD:2289780 |
NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387
|
|
G |
CSNK2B |
casein kinase 2 beta |
|
ISO |
|
RGD |
PMID:25327614 |
RGD:11565842 |
NCBI chr 6:31,327,250...31,331,250
|
|
G |
EGFR |
epidermal growth factor receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31468104 |
|
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
|
|
G |
ESR1 |
estrogen receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18701604 PMID:31468104 |
|
NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
|
|
G |
EZH2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
|
ISO |
|
RGD |
PMID:22504913 |
RGD:9588321 |
NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
|
|
G |
FASLG |
Fas ligand |
|
ISO |
protein:increased expression:myometrium |
RGD |
PMID:18000229 |
RGD:2292498 |
NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
|
|
G |
FGF1 |
fibroblast growth factor 1 |
disease_progression |
ISO |
protein:increased expression:uterus |
RGD |
PMID:16139411 |
RGD:2290287 |
NCBI chr 5:137,949,100...138,054,553
Ensembl chr 5:144,056,387...144,078,001
|
|
G |
FGF2 |
fibroblast growth factor 2 |
disease_progression |
ISO |
protein:increased expression:uterus |
RGD |
PMID:16139411 |
RGD:2290287 |
NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
|
|
G |
FGF7 |
fibroblast growth factor 7 |
|
ISO |
|
RGD |
PMID:18566572 |
RGD:2301090 |
NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163
|
|
G |
FZD2 |
frizzled class receptor 2 |
|
ISO |
mRNA, protein:increased expression:myometrium |
RGD |
PMID:12909487 |
RGD:2298700 |
NCBI chr17:12,839,362...12,843,803
|
|
G |
GPER1 |
G protein-coupled estrogen receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31468104 |
|
NCBI chr 7:1,331,586...1,338,194
|
|
G |
HMGA2 |
high mobility group AT-hook 2 |
|
ISO |
uterine leiomyoma, OMIM:150699; DNA:gene fusion:exon:RTVL-H 3-prime LTRs fused to exon 3 |
RGD |
PMID:8954805 |
RGD:1601568 |
NCBI chr12:22,954,946...23,096,623
|
|
G |
HNRNPM |
heterogeneous nuclear ribonucleoprotein M |
|
ISO |
mRNA:increased expression:uterine myometrium (human) |
RGD |
PMID:18566572 |
RGD:2301090 |
NCBI chr19:7,731,828...7,776,101
Ensembl chr19:8,579,211...8,624,029
|
|
G |
IGFBP6 |
insulin like growth factor binding protein 6 |
|
ISO |
uterine leiomyoma; mRNA:decreased expression:tumor:versus adjacent normal myometrium, by microarray |
RGD |
PMID:15705628 |
RGD:2301708 |
NCBI chr12:35,654,172...35,659,115
Ensembl chr12:36,435,221...36,440,132
|
|
G |
INHBA |
inhibin subunit beta A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228119 |
|
NCBI chr 7:42,538,591...42,556,578
Ensembl chr 7:42,580,730...42,595,097
|
|
G |
KAT6B |
lysine acetyltransferase 6B |
|
ISO |
DNA:translocation:intron:IVS3 (human) |
RGD |
PMID:15313893 |
RGD:9590338 |
NCBI chr10:71,354,585...71,561,572
Ensembl chr10:74,035,496...74,223,975
|
|
G |
KIF5C |
kinesin family member 5C |
|
ISO |
mRNA:increased expression:myometrium (human) |
RGD |
PMID:20396563 |
RGD:12859089 |
NCBI chr2B:10,836,356...10,987,683
Ensembl chr2B:153,235,329...153,387,221
|
|
G |
LNPEP |
leucyl and cystinyl aminopeptidase |
disease_progression |
ISO |
associated with Uterine Neoplasms;protein:increased expression:serum |
RGD |
PMID:7446622 |
RGD:2314924 |
NCBI chr 5:92,247,060...92,348,900
Ensembl chr 5:97,842,110...97,893,876
|
|
G |
MKI67 |
marker of proliferation Ki-67 |
|
ISO |
|
RGD |
PMID:22302692 |
RGD:6483544 |
NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555
|
|
G |
MMP2 |
matrix metallopeptidase 2 |
|
ISO |
protein:increased expression:myometrium |
RGD |
PMID:17943549 |
RGD:2290362 |
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
|
|
G |
MYC |
MYC proto-oncogene, bHLH transcription factor |
treatment |
ISO |
|
RGD |
PMID:22302692 |
RGD:6483544 |
NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
|
|
G |
NOS3 |
nitric oxide synthase 3 |
|
ISO |
protein:increased expression:smooth muscle cell |
RGD |
PMID:10671823 |
RGD:2292088 |
NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
|
|
G |
PARP1 |
poly(ADP-ribose) polymerase 1 |
treatment |
ISO |
|
RGD |
PMID:21896544 |
RGD:10413890 |
NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356
|
|
G |
PCNA |
proliferating cell nuclear antigen |
treatment |
ISO |
protein:increased expression:myometrium |
RGD |
PMID:18000229 PMID:21896544 |
RGD:10413890 RGD:2292498 |
NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440
|
|
G |
PCP4 |
Purkinje cell protein 4 |
|
ISO |
mRNA,protein:increased expression:uterine myometrium: |
RGD |
PMID:14561813 |
RGD:9850247 |
NCBI chr21:26,069,039...26,284,247
Ensembl chr21:39,587,400...39,618,734
|
|
G |
PDGFA |
platelet derived growth factor subunit A |
|
ISO |
protein:increased expression:myometrium |
RGD |
PMID:16294022 |
RGD:2292153 |
NCBI chr 7:648,722...672,023
|
|
G |
PDGFB |
platelet derived growth factor subunit B |
|
ISO |
protein:increased expression:myometrium |
RGD |
PMID:16294022 |
RGD:2292153 |
NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883
|
|
G |
PGR |
progesterone receptor |
no_association |
ISO |
|
RGD |
PMID:15807882 |
RGD:1601278 |
NCBI chr11:95,997,677...96,098,866
|
|
G |
PTEN |
phosphatase and tensin homolog |
|
ISO |
protein:decreased expression:myometrium protein:increased phosphorylation:myometrium |
RGD |
PMID:17097286 PMID:18000229 |
RGD:2292498 RGD:2292508 |
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
|
|
G |
PTGER3 |
prostaglandin E receptor 3 |
|
ISO |
mRNA:increased expression:uterine myometrium (human) |
RGD |
PMID:17407572 |
RGD:10043352 |
NCBI chr 1:70,076,610...70,271,475
Ensembl chr 1:72,059,441...72,254,063
|
|
G |
PTK2 |
protein tyrosine kinase 2 |
|
ISO |
|
RGD |
PMID:12517589 |
RGD:2292569 |
NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898
|
|
G |
SFRP1 |
secreted frizzled related protein 1 |
|
ISO |
Uterine leiomyoma; mRNA:increased expression:leiomyoma smooth muscle cells (SMCs):vs matched myometrial SMCs CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:15972578 |
RGD:2298808 |
NCBI chr 8:40,507,027...40,555,053
|
|
G |
SMAD3 |
SMAD family member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22228119 |
|
NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185
|
|
G |
TGFBR1 |
transforming growth factor beta receptor 1 |
|
ISO |
|
RGD |
PMID:17505012 |
RGD:2302021 |
NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748
|
|
G |
TSC2 |
TSC complex subunit 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15937110 PMID:21145542 |
RGD:11568684 |
NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
|
|
G |
WNT5B |
Wnt family member 5B |
|
ISO |
Uterine leiomyoma; mRNA:increased expression:leiomyoma smooth muscle cells (SMCs):vs matched myometrial SMCs CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:15972578 |
RGD:2298808 |
NCBI chr12:1,633,987...1,757,431
Ensembl chr12:1,691,097...1,708,351
|
|
G |
WNT7A |
Wnt family member 7A |
|
ISO |
Uterine Leiomyoma; mRNA:decreased expression,increased expression:tumor:decreased in 20/30, increased in 9/30 tumors vs paired adjacent myometria |
RGD |
PMID:11232041 |
RGD:2298847 |
NCBI chr 3:13,733,487...13,797,189
Ensembl chr 3:14,077,839...14,138,386
|
|
G |
XRCC1 |
X-ray repair cross complementing 1 |
susceptibility |
ISO |
DNA:polymorphism: :p.R399Q |
RGD |
PMID:15760950 |
RGD:2302578 |
NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
|
|
|
G |
FH |
fumarate hydratase |
|
ISO |
ClinVar Annotator: match by term: Multiple cutaneous leiomyomas |
ClinVar |
PMID:11865300 PMID:12761039 PMID:12772087 PMID:16199547 PMID:16237213 PMID:16575891 PMID:21398687 PMID:22069215 PMID:22595425 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29052812 PMID:29909963 PMID:32612247 PMID:33063682 PMID:34196900 More...
|
|
NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212
|
|
|
G |
CD44 |
CD44 molecule (IN blood group) |
|
ISO |
|
RGD |
PMID:15762960 |
RGD:2296043 |
NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009
|
|
|
G |
PLAG1 |
PLAG1 zinc finger |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16308870 |
|
NCBI chr 8:52,607,398...52,657,808
Ensembl chr 8:49,983,627...50,028,591
|
|
|
G |
BAP1 |
BRCA1 associated protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25231345 |
|
NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
|
|
G |
HMGA2 |
high mobility group AT-hook 2 |
|
ISO |
DNA:multiple chromosomal rearrangements |
RGD |
PMID:7606786 |
RGD:1601567 |
NCBI chr12:22,954,946...23,096,623
|
|
G |
MEN1 |
menin 1 |
|
ISO |
ClinVar Annotator: match by term: Lipoma, somatic |
ClinVar |
PMID:9103196 PMID:9215690 PMID:9463336 PMID:9498491 PMID:9671267 PMID:9683585 PMID:10576763 PMID:10594843 PMID:10664520 PMID:10856877 PMID:12112656 PMID:14641000 PMID:15635078 PMID:17065424 PMID:17623761 PMID:17853334 PMID:17879353 PMID:17953629 PMID:18045958 PMID:20833329 PMID:23093699 PMID:24033266 PMID:24599222 PMID:24915123 PMID:25309785 PMID:25741868 PMID:26467025 PMID:27572829 PMID:28492532 PMID:28870973 PMID:28968916 PMID:29036195 PMID:30324798 PMID:30795813 More...
|
|
NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164
|
|
G |
PTEN |
phosphatase and tensin homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9286463 |
|
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
|
|
|
G |
ANAPC2 |
anaphase promoting complex subunit 2 |
|
ISO |
mRNA:decreased expression:lung (human) |
RGD |
PMID:14647414 |
RGD:10047051 |
NCBI chr 9:108,234,949...108,248,227
Ensembl chr 9:137,204,356...137,217,652
|
|
|
G |
AKT1 |
AKT serine/threonine kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of lung |
ClinVar |
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:18954143 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 More...
|
|
NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
|
|
G |
ALK |
ALK receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 |
|
NCBI chr2A:29,196,195...29,930,062
Ensembl chr2A:29,276,041...30,006,735
|
|
G |
ARHGAP44 |
Rho GTPase activating protein 44 |
|
ISO |
mRNA:decreased expression:lung (human) |
RGD |
PMID:28527113 |
RGD:401901290 |
NCBI chr17:38,657,824...38,859,591
Ensembl chr17:43,357,438...43,453,457
|
|
G |
ARID1A |
AT-rich interaction domain 1A |
exacerbates |
ISO |
protein:decreased expression:lung (human) |
RGD |
PMID:32823232 |
RGD:126848760 |
NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
|
|
G |
ARPC5 |
actin related protein 2/3 complex subunit 5 |
|
ISO |
mRNA:increased expression:lung (human) |
RGD |
PMID:22089643 |
RGD:11049488 |
NCBI chr 1:159,156,229...159,165,898
Ensembl chr 1:163,311,111...163,323,554
|
|
G |
ATM |
ATM serine/threonine kinase |
susceptibility |
ISO |
DNA:SNP:intron:(rs228589) (human) |
RGD |
PMID:28642860 |
RGD:150383339 |
NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
|
|
G |
ATRX |
ATRX chromatin remodeler |
severity |
ISO |
|
RGD |
PMID:31374064 |
RGD:127285382 |
NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486
|
|
G |
B2M |
beta-2-microglobulin |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:26619011 |
|
NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991
|
|
G |
BIRC5 |
baculoviral IAP repeat containing 5 |
disease_progression |
ISO |
mRNA:increased expression:lung (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159
|
|
G |
BIRC6 |
baculoviral IAP repeat containing 6 |
disease_progression |
ISO |
mRNA:increased expression:lung (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr2A:32,373,479...32,633,088
Ensembl chr2A:33,084,929...33,343,245
|
|
G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:12068308 PMID:12460918 PMID:12460919 PMID:12960123 PMID:14612909 PMID:15035987 PMID:16439621 PMID:16474404 PMID:17603483 PMID:18042262 PMID:18186519 PMID:18413255 PMID:18794803 PMID:19010912 PMID:19206169 PMID:19238210 PMID:19537845 PMID:20350999 PMID:21062266 PMID:21129611 PMID:21483012 PMID:21784453 PMID:22310681 PMID:22649091 PMID:22773810 PMID:23273605 PMID:23833300 PMID:24033266 PMID:24303953 PMID:24446311 PMID:24920063 PMID:25157968 PMID:25463315 PMID:25741868 PMID:26619011 PMID:27236105 PMID:27276561 PMID:28492532 PMID:29907801 PMID:31336229 More...
|
|
NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
|
|
G |
BSG |
basigin (Ok blood group) |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:9154157 |
RGD:2289059 |
Ensembl chr19:539,815...551,456
|
|
G |
CBLB |
Cbl proto-oncogene B |
disease_progression |
ISO |
|
RGD |
PMID:29384143 |
RGD:150540336 |
NCBI chr 3:102,752,406...102,966,414
Ensembl chr 3:109,690,120...109,905,191
|
|
G |
CCND1 |
cyclin D1 |
disease_progression |
ISO |
protein:increased expression:lung |
RGD |
PMID:27498289 |
RGD:13434929 |
NCBI chr11:64,737,006...64,750,353
|
|
G |
CCND2 |
cyclin D2 |
|
ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:30308939 |
RGD:151665105 |
NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551
|
|
G |
CDK4 |
cyclin dependent kinase 4 |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:9751261 |
RGD:13464277 |
NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876
|
|
G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:7777060 PMID:7777061 PMID:8552400 PMID:8573142 PMID:8595405 PMID:8668202 PMID:8723678 PMID:8755727 PMID:8834170 PMID:9053859 PMID:9328469 PMID:9536098 PMID:9660926 PMID:9710613 PMID:9751050 PMID:9823374 PMID:9856841 PMID:10498896 PMID:11078762 PMID:11358797 PMID:11477665 PMID:11500805 PMID:11687599 PMID:12072543 PMID:12606942 PMID:14508519 PMID:15140233 PMID:15146471 PMID:15235029 PMID:15860862 PMID:16354195 PMID:16905682 PMID:17576681 PMID:17992122 PMID:18024887 PMID:18573309 PMID:20505745 PMID:21325014 PMID:21462282 PMID:21507037 PMID:22368299 PMID:22841127 PMID:24336570 PMID:24659262 PMID:25157968 PMID:25356972 PMID:25741868 PMID:25780468 PMID:26619011 PMID:26681309 PMID:26775776 PMID:28146043 PMID:28492532 PMID:28592523 PMID:28830827 PMID:29464027 PMID:29983899 PMID:30291219 PMID:30742731 PMID:32455486 PMID:35001868 PMID:36139606 More...
|
|
NCBI chr 9:21,803,862...21,831,322
|
|
G |
CHD4 |
chromodomain helicase DNA binding protein 4 |
|
ISO |
mRNA:increased expression:lung (human) |
RGD |
PMID:28486105 |
RGD:153323299 |
NCBI chr12:6,701,004...6,738,621
Ensembl chr12:6,619,089...6,656,076
|
|
G |
CHRNA5 |
cholinergic receptor nicotinic alpha 5 subunit |
susceptibility |
ISO |
DNA:SNP: :rs503464(human) mRNA:increased expression:lung |
RGD |
PMID:20124469 PMID:23314339 |
RGD:150527849 RGD:150527851 |
NCBI chr15:57,493,730...57,530,463
Ensembl chr15:76,455,165...76,486,376
|
|
G |
CHRNB4 |
cholinergic receptor nicotinic beta 4 subunit |
susceptibility |
ISO |
mRNA:increased expression:lung DNA:hypomethylation:promoter: DNA:SNP:: (rs7178270) (human) |
RGD |
PMID:20124469 PMID:22945651 PMID:23397474 |
RGD:150527851 RGD:151361148 RGD:151361154 |
NCBI chr15:57,552,697...57,570,828
Ensembl chr15:76,515,455...76,532,712
|
|
G |
CLPTM1L |
CLPTM1 like |
no_association susceptibility |
ISO |
DNA:SNP::rs401681(human) DNA:SNP: :rs401681(human) DNA:SNP:: rs31490(human) mRNA:increased expression:lung |
RGD |
PMID:23908149 PMID:24366883 PMID:24386361 PMID:24861918 |
RGD:150530483 RGD:150530498 RGD:150530499 RGD:150537098 |
Ensembl chr 5:1,361,571...1,388,415
|
|
G |
CREBBP |
CREB binding protein |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
|
|
NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
|
|
G |
CSF1R |
colony stimulating factor 1 receptor |
|
ISO |
protein:increased expression:lung (human) |
RGD |
PMID:23702648 |
RGD:150524280 |
NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415
|
|
G |
CTNNB1 |
catenin beta 1 |
disease_progression |
ISO |
protein:increased expression:lung |
RGD |
PMID:27498289 |
RGD:13434929 |
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
|
|
G |
CYP1B1 |
cytochrome P450 family 1 subfamily B member 1 |
susceptibility |
ISO |
Carcinoma, Squamous Cell;DNA:snp:cds:p.A119S (human) |
RGD |
PMID:10739169 |
RGD:7829734 |
NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824
|
|
G |
DDR2 |
discoidin domain receptor tyrosine kinase 2 |
severity |
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
RGD ClinVar |
PMID:22328973 PMID:24885564 PMID:25741868 PMID:26206333 PMID:28492532 |
RGD:150429702 |
NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766
|
|
G |
E2F1 |
E2F transcription factor 1 |
treatment |
ISO |
|
RGD |
PMID:28927142 |
RGD:13464332 |
NCBI chr20:29,963,083...29,973,860
Ensembl chr20:31,103,764...31,110,604
|
|
G |
E2F3 |
E2F transcription factor 3 |
|
ISO |
|
RGD |
PMID:16938365 |
RGD:13464341 |
NCBI chr 6:20,225,471...20,317,199
Ensembl chr 6:20,574,898...20,665,785
|
|
G |
EEF2 |
eukaryotic translation elongation factor 2 |
disease_progression |
ISO |
protein:increased expression:lung (human) |
RGD |
PMID:27542262 |
RGD:153298910 |
NCBI chr19:3,000,608...3,009,918
Ensembl chr19:3,950,772...3,960,172
|
|
G |
EGFR |
epidermal growth factor receptor |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:15118073 PMID:15118125 PMID:15329413 PMID:15623594 PMID:15897572 PMID:16043828 PMID:16205628 PMID:16707764 PMID:16863509 PMID:16931592 PMID:17368623 PMID:17653080 PMID:17973572 PMID:18000506 PMID:18372921 PMID:18509184 PMID:19147750 PMID:19536777 PMID:19922469 PMID:20522446 PMID:20942962 PMID:22753918 PMID:23102728 PMID:23945392 PMID:24033266 PMID:25157968 PMID:25382819 PMID:25521405 PMID:25741868 PMID:26051236 PMID:26619011 PMID:27294619 PMID:28492532 PMID:29141884 PMID:30098700 PMID:30610926 PMID:31721094 PMID:32171629 PMID:32978515 PMID:32978518 PMID:1111234672 More...
|
|
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
|
|
G |
EMX2 |
empty spiracles homeobox 2 |
exacerbates |
ISO |
protein:decreased expression:lung (human) |
RGD |
PMID:26132438 |
RGD:11079903 |
NCBI chr10:114,124,759...114,132,109
Ensembl chr10:117,551,451...117,557,972
|
|
G |
EP300 |
E1A binding protein p300 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:26619011 |
|
NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
|
|
G |
EPHA2 |
EPH receptor A2 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:20360610 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:15,259,915...15,292,983
Ensembl chr 1:16,253,513...16,284,787
|
|
G |
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
|
ISO |
mRNA, protein:increased expression:lung (human) |
RGD |
PMID:31615563 |
RGD:155260344 |
NCBI chr10:44,703,720...44,784,948
|
|
G |
ERCC6L |
ERCC excision repair 6 like, spindle assembly checkpoint helicase |
|
ISO |
mRNA:increased expression:lung (human) |
RGD |
PMID:35150321 |
RGD:155260359 |
NCBI chr X:61,441,350...61,476,267
Ensembl chr X:71,526,160...71,560,091
|
|
G |
FAP |
fibroblast activation protein alpha |
disease_progression |
ISO |
|
RGD |
PMID:26252379 |
RGD:152600901 |
NCBI chr2B:49,464,199...49,537,284
Ensembl chr2B:166,832,963...166,904,950
|
|
G |
FBXW7 |
F-box and WD repeat domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:25741868 PMID:26619011 |
|
NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
|
|
G |
FGF9 |
fibroblast growth factor 9 |
|
ISO |
mRNA:decreased expression:lung (human) |
RGD |
PMID:28440022 |
RGD:152180844 |
NCBI chr13:2,967,713...3,000,554
Ensembl chr13:21,273,333...21,307,198
|
|
G |
FGFR2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:9150725 PMID:23786770 PMID:25741868 |
|
NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815
|
|
G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8640234 PMID:8858131 PMID:9438390 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11241532 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16841094 PMID:17384684 PMID:18642369 PMID:19381019 PMID:19749790 PMID:20301540 PMID:20420824 PMID:22045636 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28492532 More...
|
|
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
|
|
G |
FGFR4 |
fibroblast growth factor receptor 4 |
disease_progression |
ISO |
human cells in mouse model |
RGD |
PMID:29402970 |
RGD:150429984 |
NCBI chr 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605
|
|
G |
FRZB |
frizzled related protein |
|
ISO |
protein:decreased expression:lung (human) |
RGD |
PMID:27623992 |
RGD:32716395 |
NCBI chr2B:70,106,378...70,139,333
Ensembl chr2B:187,915,579...187,948,855
|
|
G |
FUBP1 |
far upstream element binding protein 1 |
|
ISO |
mRNA:decreased expression:lung (human) |
RGD |
PMID:32481602 |
RGD:151361197 |
NCBI chr 1:77,162,675...77,198,486
|
|
G |
GPX1 |
glutathione peroxidase 1 |
susceptibility |
ISO |
DNA:missense mutation:CDS:p.P198L (rs1050450) (human) DNA:missense mutation:CDS:p.P200L (rs1050450) (human) |
RGD |
PMID:16797832 PMID:18298806 |
RGD:152995481 RGD:152995507 |
NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
|
|
G |
HRAS |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:1904555 PMID:3510078 PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:20937837 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31775759 PMID:32732226 PMID:33027564 PMID:34958143 PMID:168335863 More...
|
|
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
|
|
G |
IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
|
ISO |
protein:increased expression:blood plasma (human) |
RGD |
PMID:24046070 |
RGD:149735540 |
NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175
|
|
G |
IDH2 |
isocitrate dehydrogenase (NADP(+)) 2 |
susceptibility severity |
ISO |
protein:increased expression:lung (human) DNA:SNP:CD: (rs11540478) C>T (human) protein:increased expression:blood serum (human) |
RGD |
PMID:27649069 PMID:29465809 PMID:30128035 |
RGD:149735564 RGD:149735566 RGD:149735567 |
NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
|
|
G |
KIT |
KIT proto-oncogene, receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473
|
|
G |
KMT2D |
lysine methyltransferase 2D |
disease_progression |
ISO |
|
RGD |
PMID:24323028 PMID:28177435 PMID:30885352 |
RGD:150523770 RGD:150523776 RGD:150523777 |
NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
|
|
G |
KRAS |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:2278970 PMID:3122217 PMID:6695174 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17384584 PMID:17704260 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22407852 PMID:22722830 PMID:23182985 PMID:23325582 PMID:23406027 PMID:25157968 PMID:26242988 PMID:26619011 PMID:28492532 More...
|
|
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
|
|
G |
LAMC2 |
laminin subunit gamma 2 |
disease_progression |
ISO |
|
RGD |
PMID:23124251 |
RGD:13793371 |
NCBI chr 1:158,697,084...158,763,209
Ensembl chr 1:162,862,785...162,921,864
|
|
G |
LOC100969764 |
sulfotransferase 1A1 |
|
ISO |
DNA:SNP:exon:p.R213H, 638G>A (human) |
RGD |
PMID:14688021 |
RGD:1581441 |
|
|
G |
LOC100986481 |
cytochrome c |
treatment |
ISO |
|
RGD |
PMID:25578497 |
RGD:13792769 |
NCBI chr 7:25,784,900...25,791,598
Ensembl chr 7:25,396,013...25,398,549
|
|
G |
LOC100991861 |
histone H3.1 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
|
|
NCBI chr 6:25,865,046...25,865,544
Ensembl chr 6:26,523,132...26,523,542
|
|
G |
LRRC56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:1904555 PMID:3510078 PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:20937837 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31775759 PMID:32732226 PMID:33027564 PMID:34958143 PMID:168335863 More...
|
|
NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
|
|
G |
MAP2K1 |
mitogen-activated protein kinase kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:25741868 |
|
NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161
|
|
G |
MAP2K7 |
mitogen-activated protein kinase kinase 7 |
|
ISO |
mRNA:decreased expression:lung (human) |
RGD |
PMID:31089135 |
RGD:155253742 |
NCBI chr19:7,205,124...7,215,776
Ensembl chr19:8,057,598...8,066,512
|
|
G |
MED12 |
mediator complex subunit 12 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:26619011 |
|
NCBI chr X:60,386,820...60,410,730
Ensembl chr X:70,443,667...70,466,942
|
|
G |
MET |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
|
|
NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
|
|
G |
NFE2L2 |
NFE2 like bZIP transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:26619011 PMID:29018201 |
|
NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
|
|
G |
PDGFRA |
platelet derived growth factor receptor alpha |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097
|
|
G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 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:22120714 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24497998 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26351730 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27283355 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29446767 PMID:29549527 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:37712948 More...
|
|
NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
|
|
G |
POLE |
DNA polymerase epsilon, catalytic subunit |
ameliorates |
ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:29650000 |
RGD:151347653 |
NCBI chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650
|
|
G |
PPP6C |
protein phosphatase 6 catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:26619011 |
|
NCBI chr 9:96,267,918...96,311,159
Ensembl chr 9:124,783,173...124,825,877
|
|
G |
PREX2 |
phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 |
|
ISO |
mRNA:increased expression:lung (human) |
RGD |
PMID:32537022 |
RGD:151665184 |
NCBI chr 8:64,489,817...64,769,602
Ensembl chr 8:66,215,974...66,430,138
|
|
G |
PTCH1 |
patched 1 |
disease_progression |
ISO |
DNA:CNVs |
RGD |
PMID:21889114 |
RGD:150524337 |
NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
|
|
G |
PTEN |
phosphatase and tensin homolog |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 PMID:11504908 PMID:11875759 PMID:11948419 PMID:16773562 PMID:17526801 PMID:17942903 PMID:18767981 PMID:19457929 PMID:20085938 PMID:20300775 PMID:20301661 PMID:20926450 PMID:21190448 PMID:21194675 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22595938 PMID:23335809 PMID:23361946 PMID:23399955 PMID:23470840 PMID:24292679 PMID:24778394 PMID:25157968 PMID:25527629 PMID:25741868 PMID:26619011 PMID:26798346 PMID:27477328 PMID:27535533 PMID:28475857 PMID:28492532 PMID:28677221 PMID:29359449 PMID:29706350 PMID:30311380 PMID:30528446 PMID:31159747 PMID:32350270 PMID:32442409 PMID:33077954 More...
|
|
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
|
|
G |
PTK2 |
protein tyrosine kinase 2 |
severity |
ISO |
|
RGD |
PMID:23906871 |
RGD:152176664 |
NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898
|
|
G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:17942397 PMID:17972951 PMID:18470943 PMID:18559669 PMID:18678287 PMID:19047918 PMID:19179468 PMID:19509418 PMID:19798502 PMID:21901340 PMID:21930766 PMID:22190897 PMID:23756559 PMID:23825065 PMID:23832011 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26783207 PMID:26822237 PMID:27069254 PMID:27276561 PMID:27783593 PMID:28098151 PMID:28492532 PMID:32561839 PMID:36349709 More...
|
|
NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
|
|
G |
PTPN13 |
protein tyrosine phosphatase non-receptor type 13 |
susceptibility severity |
ISO |
DNA:missense mutations:cds:p.I1522M, p.Y2081D (human) mRNA,protein:decreased expression:lung |
RGD |
PMID:19672627 PMID:22245727 PMID:23906871 |
RGD:152176663 RGD:152176664 RGD:152176665 |
NCBI chr 4:78,893,598...79,118,745
Ensembl chr 4:89,623,271...89,847,616
|
|
G |
PTPRJ |
protein tyrosine phosphatase receptor type J |
susceptibility |
ISO |
DNA:missense mutations:cds:p.R326Q, p.Q276P (human) |
RGD |
PMID:19672627 |
RGD:152176665 |
NCBI chr11:47,941,134...48,130,538
Ensembl chr11:48,613,761...48,670,494
|
|
G |
RAD52 |
RAD52 homolog, DNA repair protein |
ameliorates susceptibility |
ISO |
DNA:SNP: (rs6489769) (human) |
RGD |
PMID:22585858 PMID:28415565 |
RGD:151660334 RGD:151660345 |
NCBI chr12:986,372...1,066,708
Ensembl chr12:946,825...985,668
|
|
G |
SFTPB |
surfactant protein B |
susceptibility |
ISO |
DNA:polymorphism:intron (human) DNA:variants:intron: |
RGD |
PMID:12107845 PMID:16570259 |
RGD:151667424 RGD:4143389 |
NCBI chr2A:85,708,485...85,718,120
Ensembl chr2A:87,257,244...87,268,332
|
|
G |
SLC7A5 |
solute carrier family 7 member 5 |
|
ISO |
|
RGD |
PMID:19068093 |
RGD:151361158 |
NCBI chr16:68,512,407...68,552,763
|
|
G |
SOX30 |
SRY-box transcription factor 30 |
disease_progression |
ISO |
|
RGD |
PMID:26330328 |
RGD:11535423 |
NCBI chr 5:153,022,109...153,067,734
Ensembl chr 5:159,640,126...159,737,776
|
|
G |
SRC |
SRC proto-oncogene, non-receptor tyrosine kinase |
severity |
ISO |
|
RGD |
PMID:12826049 |
RGD:150521546 |
NCBI chr20:33,667,614...33,727,126
Ensembl chr20:34,822,271...34,839,634
|
|
G |
SRSF1 |
serine and arginine rich splicing factor 1 |
|
ISO |
protein:increased expression:lung epithelium |
RGD |
PMID:23071587 |
RGD:150429662 |
NCBI chr17:52,083,676...52,087,454
Ensembl chr17:56,937,295...56,944,425
|
|
G |
SRSF2 |
serine and arginine rich splicing factor 2 |
|
ISO |
protein:increased expression:lung epithelium,nucleus |
RGD |
PMID:23071587 |
RGD:150429662 |
NCBI chr17:70,809,931...70,813,191
Ensembl chr17:76,375,957...76,379,759
|
|
G |
STK11 |
serine/threonine kinase 11 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:15800014 PMID:17676035 PMID:19892943 PMID:25741868 PMID:28492532 |
|
Ensembl chr19:1,188,537...1,210,677
|
|
G |
TERT |
telomerase reverse transcriptase |
susceptibility |
ISO |
DNA:SNP::rs33963617(human) DNA:SNP:: rs2853669(human) |
RGD |
PMID:23908149 PMID:31935503 |
RGD:150530498 RGD:150530635 |
Ensembl chr 5:1,300,960...1,338,872
|
|
G |
TP53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:960674 PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1631151 PMID:1673792 PMID:1679237 PMID:1683921 PMID:1686725 PMID:1915267 PMID:1918170 PMID:1978757 PMID:2046748 PMID:2259385 PMID:2531845 PMID:2554494 PMID:2654466 PMID:3784963 PMID:4122735 PMID:6736287 PMID:7565304 PMID:7651740 PMID:7707106 PMID:7732013 PMID:7750099 PMID:7783166 PMID:7791795 PMID:7881428 PMID:7885831 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8336941 PMID:8344492 PMID:8364550 PMID:8401536 PMID:8402598 PMID:8423216 PMID:8425176 PMID:8464896 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8688334 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8829653 PMID:8869100 PMID:9020384 PMID:9049183 PMID:9150393 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9525742 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9825943 PMID:9839505 PMID:9979965 PMID:10064694 PMID:10089074 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10753186 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11051241 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11590071 PMID:11593407 PMID:11668501 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11900253 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12124823 PMID:12509279 PMID:12672316 PMID:12695689 PMID:12700230 PMID:12702523 PMID:12726864 PMID:12826609 PMID:12885464 PMID:12901974 PMID:12909720 PMID:12917626 PMID:14559903 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15138567 PMID:15161705 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15611505 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15958617 PMID:15977174 PMID:15982667 PMID:15993273 PMID:16206219 PMID:16209708 PMID:16247456 PMID:16258005 PMID:16288208 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16492679 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16778209 PMID:16793544 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17170001 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17541742 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:17881637 PMID:18208484 PMID:18307025 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18689542 PMID:18818522 PMID:18978813 PMID:18989156 PMID:19012332 PMID:19101993 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19462533 PMID:19468865 PMID:19556618 PMID:19681600 PMID:19834951 PMID:19850740 PMID:19913028 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20195489 PMID:20234365 PMID:20308654 PMID:20364130 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20589832 PMID:20593220 PMID:20693561 PMID:20805372 PMID:20972454 PMID:21056685 PMID:21059199 PMID:21080251 PMID:21113594 PMID:21118481 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21590121 PMID:21601526 PMID:21626334 PMID:21674059 PMID:21747090 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22090360 PMID:22109999 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22484423 PMID:22553421 PMID:22672556 PMID:22710932 PMID:22713868 PMID:22768918 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22999923 PMID:23124483 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23264849 PMID:23265383 PMID:23315175 PMID:23334668 PMID:23340422 PMID:23406775 PMID:23484829 PMID:23538418 PMID:23612969 PMID:23625637 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24076587 PMID:24122735 PMID:24256616 PMID:24307375 PMID:24381225 PMID:24384472 PMID:24395441 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24744791 PMID:24763289 PMID:24810334 PMID:24835218 PMID:24857548 PMID:24940547 PMID:25119136 PMID:25123297 PMID:25157968 PMID:25186627 PMID:25256166 PMID:25293557 PMID:25326637 PMID:25339994 PMID:25404506 PMID:25428789 PMID:25433984 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25612911 PMID:25619955 PMID:25669829 PMID:25691460 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25980754 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26066407 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26271412 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26534844 PMID:26554828 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26659639 PMID:26681312 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27077130 PMID:27179933 PMID:27276561 PMID:27276934 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27501770 PMID:27523101 PMID:27533082 PMID:27616075 PMID:27621308 PMID:27622479 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28176830 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28776571 PMID:28802053 PMID:28861920 PMID:28873162 PMID:28973705 PMID:28975465 PMID:29025599 PMID:29058119 PMID:29070607 PMID:29076966 PMID:29126202 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29752822 PMID:29753700 PMID:29875428 PMID:29946497 PMID:29958926 PMID:29979965 PMID:30076369 PMID:30099178 PMID:30128536 PMID:30152528 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30318520 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30546832 PMID:30630526 PMID:30675318 PMID:30709381 PMID:30720243 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31016814 PMID:31050713 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31121848 PMID:31127191 PMID:31168460 PMID:31206626 PMID:31296311 PMID:31300551 PMID:31494577 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32019277 PMID:32126783 PMID:32156018 PMID:32179180 PMID:32187361 PMID:32295079 PMID:32318955 PMID:32401780 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32888145 PMID:32906206 PMID:32980694 PMID:33138793 PMID:33163847 PMID:33208383 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33332384 PMID:33372952 PMID:33407742 PMID:33471991 PMID:33633026 PMID:33674644 PMID:33758026 PMID:33840814 PMID:34026625 PMID:34240179 PMID:34266904 PMID:34529667 PMID:34675114 PMID:34709361 PMID:34805717 PMID:35033608 PMID:35264596 PMID:35820297 PMID:35938033 PMID:35974385 PMID:36219266 PMID:36988593 More...
|
|
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
|
|
G |
TP73 |
tumor protein p73 |
treatment |
ISO |
mRNA:increased expression:lung (human) DNA:SNP:: rs2273953(human) |
RGD |
PMID:27246533 PMID:30420492 |
RGD:151347580 RGD:151347584 |
NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206
|
|
|
G |
ACVR1B |
activin A receptor type 1B |
ameliorates |
ISO |
|
RGD |
PMID:30061637 |
RGD:151665492 |
NCBI chr12:36,765,655...36,811,355
Ensembl chr12:37,541,867...37,566,660
|
|
G |
ADA |
adenosine deaminase |
treatment |
ISO |
|
RGD |
PMID:17952507 |
RGD:152995277 |
NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
|
|
G |
ADAMTS2 |
ADAM metallopeptidase with thrombospondin type 1 motif 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26139392 |
|
NCBI chr 5:174,264,811...174,502,817
Ensembl chr 5:181,557,928...181,786,175
|
|
G |
AGO1 |
argonaute RISC component 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr 1:35,148,984...35,196,252
Ensembl chr 1:36,324,733...36,360,832
|
|
G |
AGO2 |
argonaute RISC catalytic component 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr 8:137,192,037...137,308,059
Ensembl chr 8:140,287,647...140,361,125
|
|
G |
ANXA2 |
annexin A2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20682992 |
|
NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250
|
|
G |
APOA1 |
apolipoprotein A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23056237 |
|
NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
|
|
G |
BAP1 |
BRCA1 associated protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:24928783 PMID:25231345 PMID:26463840 PMID:26928227 PMID:29112861 |
RGD:9586039 |
NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
|
|
G |
BCL10 |
BCL10 immune signaling adaptor |
|
ISO |
ClinVar Annotator: match by term: Mesothelioma, malignant | ClinVar Annotator: match by term: Mesothelioma, somatic |
OMIM ClinVar |
PMID:9989495 PMID:10380920 PMID:10408400 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:117,823,388...117,834,314
|
|
G |
BCL2 |
BCL2 apoptosis regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16850164 |
|
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
|
|
G |
C9 |
complement C9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23056237 |
|
NCBI chr 5:71,011,961...71,090,243
Ensembl chr 5:76,051,911...76,130,725
|
|
G |
CALB2 |
calbindin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22784439 |
|
NCBI chr16:53,620,317...53,653,372
Ensembl chr16:71,195,770...71,227,937
|
|
G |
CCL23 |
C-C motif chemokine ligand 23 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23056237 |
|
NCBI chr17:20,778,008...20,782,929
Ensembl chr17:21,073,882...21,078,794
|
|
G |
CCL27 |
C-C motif chemokine ligand 27 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
|
NCBI chr 9:34,498,478...34,501,475
Ensembl chr 9:35,307,175...35,308,146
|
|
G |
CCL5 |
C-C motif chemokine ligand 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
|
NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172
|
|
G |
CCNE2 |
cyclin E2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr 8:91,499,647...91,518,488
Ensembl chr 8:93,702,104...93,717,151
|
|
G |
CD40 |
CD40 molecule |
treatment |
ISO |
|
RGD |
PMID:22002241 |
RGD:11522742 |
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
|
|
G |
CDH5 |
cadherin 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28377727 |
|
NCBI chr16:46,684,545...46,722,740
Ensembl chr16:65,787,370...65,825,360
|
|
G |
CDK6 |
cyclin dependent kinase 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr 7:84,603,419...84,835,082
|
|
G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11453316 |
|
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
|
|
G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19223589 PMID:21526190 PMID:29112861 |
|
NCBI chr 9:21,803,862...21,831,322
|
|
G |
CFAP45 |
cilia and flagella associated protein 45 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26928227 |
|
NCBI chr 1:135,223,885...135,251,829
Ensembl chr 1:139,144,634...139,172,558
|
|
G |
CLDN10 |
claudin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28377727 |
|
NCBI chr13:76,728,572...76,755,685
Ensembl chr13:95,763,980...95,909,161
|
|
G |
CLDN15 |
claudin 15 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28377727 |
|
NCBI chr 7:93,373,450...93,380,912
Ensembl chr 7:106,613,604...106,620,479
|
|
G |
CLDN4 |
claudin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28377727 |
|
Ensembl chr 7:80,983,832...80,984,461
|
|
G |
CLDN5 |
claudin 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28377727 |
|
NCBI chr22:2,282,215...2,286,724
Ensembl chr22:17,958,182...17,959,093
|
|
G |
CLDN8 |
claudin 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28377727 |
|
NCBI chr21:16,634,733...16,636,809
Ensembl chr21:30,020,274...30,020,951
|
|
G |
CLEC11A |
C-type lectin domain containing 11A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
|
NCBI chr19:47,682,806...47,690,389
Ensembl chr19:56,586,183...56,588,580
|
|
G |
COL12A1 |
collagen type XII alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr 6:72,927,897...73,049,168
Ensembl chr 6:76,219,319...76,340,496
|
|
G |
COPG1 |
COPI coat complex subunit gamma 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26463840 |
|
NCBI chr 3:126,310,558...126,338,726
Ensembl chr 3:133,664,856...133,694,849
|
|
G |
CSF1 |
colony stimulating factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
|
NCBI chr 1:112,555,755...112,575,894
Ensembl chr 1:127,764,916...127,781,943
|
|
G |
CTNNB1 |
catenin beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22784439 |
|
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
|
|
G |
CXCL12 |
C-X-C motif chemokine ligand 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
|
NCBI chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231
|
|
G |
CXCL13 |
C-X-C motif chemokine ligand 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23056237 |
|
NCBI chr 4:46,583,759...46,589,865
Ensembl chr 4:52,428,702...52,434,803
|
|
G |
CXCL8 |
C-X-C motif chemokine ligand 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 PMID:28377727 |
|
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
|
|
G |
CXCL9 |
C-X-C motif chemokine ligand 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
|
NCBI chr 4:48,198,478...48,204,658
Ensembl chr 4:54,036,342...54,042,502
|
|
G |
DDX3X |
DEAD-box helicase 3 X-linked |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26928227 |
|
NCBI chr X:33,780,381...33,796,829
Ensembl chr X:41,475,116...41,505,837
|
|
G |
DDX51 |
DEAD-box helicase 51 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26928227 |
|
NCBI chr12:129,797,708...129,803,006
Ensembl chr12:134,225,416...134,234,202
|
|
G |
EFEMP1 |
EGF containing fibulin extracellular matrix protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27032653 |
|
NCBI chr2A:56,017,678...56,076,059
Ensembl chr2A:57,155,000...57,212,500
|
|
G |
EGFR |
epidermal growth factor receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27032653 |
|
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
|
|
G |
ENOX2 |
ecto-NOX disulfide-thiol exchanger 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26807072 |
|
NCBI chr X:119,761,641...120,039,567
Ensembl chr X:130,049,580...130,236,931
|
|
G |
EPHX1 |
epoxide hydrolase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16697254 |
|
NCBI chr 1:201,271,366...201,306,635
Ensembl chr 1:206,272,866...206,307,581
|
|
G |
F9 |
coagulation factor IX |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23056237 |
|
NCBI chr X:128,684,709...128,719,020
Ensembl chr X:138,934,167...138,967,087
|
|
G |
FGD6 |
FYVE, RhoGEF and PH domain containing 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr12:92,669,106...92,809,002
Ensembl chr12:96,065,059...96,203,262
|
|
G |
FGF18 |
fibroblast growth factor 18 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr 5:166,765,061...166,802,277
|
|
G |
FGF9 |
fibroblast growth factor 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr13:2,967,713...3,000,554
Ensembl chr13:21,273,333...21,307,198
|
|
G |
FN1 |
fibronectin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23056237 |
|
NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
|
|
G |
FTH1 |
ferritin heavy chain 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26818092 |
|
NCBI chr11:57,329,163...57,332,248
|
|
G |
GPR27 |
G protein-coupled receptor 27 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr 3:71,693,611...71,696,247
|
|
G |
GPR37 |
G protein-coupled receptor 37 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr 7:116,727,912...116,751,647
Ensembl chr 7:129,410,458...129,430,292
|
|
G |
GSTM1 |
glutathione S-transferase mu 1 |
|
ISO |
DNA:deletion:cds (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:7606714 PMID:16697254 |
RGD:7495814 |
Ensembl chr 1:127,979,238...128,010,411
|
|
G |
HDAC4 |
histone deacetylase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr2B:126,287,745...126,649,815
Ensembl chr2B:245,123,061...245,427,054
|
|
G |
HEPH |
hephaestin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26818092 |
|
NCBI chr X:55,276,887...55,375,719
Ensembl chr X:65,349,546...65,448,388
|
|
G |
HGF |
hepatocyte growth factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
|
NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
|
|
G |
HTRA1 |
HtrA serine peptidase 1 |
disease_progression |
ISO |
protein:increased expression:mesothelium (human) |
RGD |
PMID:18681782 |
RGD:152975625 |
NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
|
|
G |
ICAM2 |
intercellular adhesion molecule 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23056237 |
|
NCBI chr17:58,095,937...58,114,654
Ensembl chr17:63,189,914...63,207,844
|
|
G |
IFNG |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
|
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
|
|
G |
IGF2BP3 |
insulin like growth factor 2 mRNA binding protein 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23621518 |
|
NCBI chr 7:23,994,839...24,148,709
Ensembl chr 7:23,602,905...23,755,473
|
|
G |
IL12B |
interleukin 12B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
|
NCBI chr 5:154,706,467...154,722,231
Ensembl chr 5:161,325,303...161,335,381
|
|
G |
IL1A |
interleukin 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
|
NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
|
|
G |
IL2RA |
interleukin 2 receptor subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
|
NCBI chr10:6,053,549...6,103,863
|
|
G |
IL3 |
interleukin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
|
NCBI chr 5:127,483,843...127,486,388
Ensembl chr 5:133,647,667...133,650,213
|
|
G |
IL4 |
interleukin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
|
NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
|
|
G |
IL6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
|
NCBI chr 7:23,415,922...23,420,767
|
|
G |
ILK |
integrin linked kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23045294 |
|
NCBI chr11:6,735,735...6,742,922
Ensembl chr11:6,418,717...6,425,788
|
|
G |
KAT5 |
lysine acetyltransferase 5 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:26780987 |
|
NCBI chr11:61,071,118...61,078,667
Ensembl chr11:64,404,572...64,412,667
|
|
G |
KIT |
KIT proto-oncogene, receptor tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23056237 |
|
NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473
|
|
G |
LIMCH1 |
LIM and calponin homology domains 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr 4:35,685,904...36,025,582
Ensembl chr 4:41,533,560...41,873,694
|
|
G |
LOC100994627 |
ficolin-2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23056237 |
|
NCBI chr 9:105,995,807...106,020,389
Ensembl chr 9:134,997,038...135,018,992
|
|
G |
LTA |
lymphotoxin alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
|
NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
|
|
G |
MCAM |
melanoma cell adhesion molecule |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:22784439 PMID:23621518 |
RGD:7364782 |
NCBI chr11:114,149,583...114,158,234
Ensembl chr11:118,078,179...118,083,893
|
|
G |
MDK |
midkine |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23056237 |
|
NCBI chr11:46,339,365...46,342,388
Ensembl chr11:46,891,540...46,893,254
|
|
G |
MET |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
|
|
G |
MIF |
macrophage migration inhibitory factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
|
NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009
|
|
G |
MLANA |
melan-A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22784439 |
|
NCBI chr 9:5,711,237...5,729,377
Ensembl chr 9:5,892,923...5,910,956
|
|
G |
MSLN |
mesothelin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19190155 PMID:27032653 |
|
Ensembl chr16:777,146...783,449
|
|
G |
MTMR4 |
myotubularin related protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr17:52,564,455...52,592,899
Ensembl chr17:57,418,229...57,446,545
|
|
G |
MUC1 |
mucin 1, cell surface associated |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22784439 |
|
NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850
|
|
G |
NANOS1 |
nanos C2HC-type zinc finger 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr10:115,603,040...115,607,245
|
|
G |
NAT2 |
N-acetyltransferase 2 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:15993904 PMID:16697254 |
RGD:5131858 |
NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327
|
|
G |
NF2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16166281 PMID:23435014 PMID:26463840 PMID:26678224 PMID:26928227 PMID:29112861 PMID:32271879 More...
|
RGD:150530636 RGD:150530640 |
NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013
|
|
G |
NGF |
nerve growth factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
|
NCBI chr 1:87,223,597...87,276,759
|
|
G |
OSMR |
oncostatin M receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr 5:71,437,589...71,525,521
Ensembl chr 5:76,478,699...76,543,263
|
|
G |
PARP1 |
poly(ADP-ribose) polymerase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21543585 |
|
NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356
|
|
G |
PDPN |
podoplanin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22784439 |
|
NCBI chr 1:12,728,569...12,759,781
Ensembl chr 1:13,728,233...13,759,584
|
|
G |
PLLP |
plasmolipin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr16:37,531,102...37,559,762
Ensembl chr16:56,663,791...56,692,784
|
|
G |
PTPRF |
protein tyrosine phosphatase receptor type F |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr 1:42,878,344...42,923,539
Ensembl chr 1:44,220,991...44,297,647
|
|
G |
PYCARD |
PYD and CARD domain containing |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26935421 |
|
NCBI chr16:23,764,386...23,765,732
Ensembl chr16:31,571,363...31,573,828
|
|
G |
RAF1 |
Raf-1 proto-oncogene, serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr 3:12,510,084...12,590,598
Ensembl chr 3:12,853,415...12,932,871
|
|
G |
RXRA |
retinoid X receptor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr 9:105,424,046...105,539,241
Ensembl chr 9:134,082,865...134,144,704
|
|
G |
RYR2 |
ryanodine receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26928227 |
|
NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509
|
|
G |
S100B |
S100 calcium binding protein B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28377727 |
|
NCBI chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953
|
|
G |
SDC1 |
syndecan 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27032653 |
|
NCBI chr2A:20,187,249...20,211,567
Ensembl chr2A:20,302,589...20,309,848
|
|
G |
SEMA4F |
ssemaphorin 4F |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr2A:74,720,714...74,777,154
Ensembl chr2A:76,226,330...76,253,890
|
|
G |
SERPINA4 |
serpin family A member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23056237 |
|
NCBI chr14:75,185,501...75,194,061
Ensembl chr14:94,517,341...94,525,820
|
|
G |
SETD2 |
SET domain containing 2, histone lysine methyltransferase |
|
ISO |
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) |
CTD RGD |
PMID:26928227 PMID:27834213 |
RGD:150429641 |
NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999
|
|
G |
SETDB1 |
SET domain bifurcated histone lysine methyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26928227 |
|
NCBI chr 1:126,275,719...126,314,043
Ensembl chr 1:129,925,009...129,962,442
|
|
G |
SF3B1 |
splicing factor 3b subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26928227 |
|
NCBI chr2B:84,633,272...84,678,602
Ensembl chr2B:202,530,200...202,573,346
|
|
G |
SHBG |
sex hormone binding globulin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28377727 |
|
NCBI chr17:7,658,831...7,664,631
Ensembl chr17:7,645,187...7,650,552
|
|
G |
SLC22A5 |
solute carrier family 22 member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr 5:127,791,984...127,817,870
Ensembl chr 5:133,954,678...133,979,066
|
|
G |
SLC2A1 |
solute carrier family 2 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22784439 |
|
NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
|
|
G |
SMARCA2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409
|
|
G |
SOD2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20617513 |
|
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
|
|
G |
TBL1XR1 |
TBL1X/Y related 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr 3:174,067,964...174,251,913
Ensembl chr 3:182,247,335...182,429,619
|
|
G |
TF |
transferrin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26818092 |
|
NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476
|
|
G |
TFDP2 |
transcription factor Dp-2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr 3:138,972,438...139,179,062
Ensembl chr 3:146,575,213...146,719,400
|
|
G |
TGFB2 |
transforming growth factor beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041
|
|
G |
TNFRSF8 |
TNF receptor superfamily member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23056237 |
|
NCBI chr 1:10,813,111...10,893,005
Ensembl chr 1:12,029,038...12,108,495
|
|
G |
TP53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26928227 |
|
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
|
|
G |
TRAF7 |
TNF receptor associated factor 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26928227 |
|
NCBI chr16:1,013,831...1,036,486
Ensembl chr16:2,266,194...2,279,031
|
|
G |
TXN |
thioredoxin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27032653 |
|
NCBI chr 9:81,399,056...81,411,607
Ensembl chr 9:109,565,557...109,578,311
|
|
G |
ULK2 |
unc-51 like autophagy activating kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26928227 |
|
NCBI chr17:31,262,168...31,362,251
Ensembl chr17:36,409,312...36,507,786
|
|
G |
VIM |
vimentin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22784439 |
|
NCBI chr10:17,546,389...17,554,702
Ensembl chr10:17,818,285...17,826,642
|
|
G |
WT1 |
WT1 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Mesothelioma, malignant |
OMIM ClinVar |
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:9090524 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:9745866 PMID:10470095 PMID:10505700 PMID:10762296 PMID:11182928 PMID:12970737 PMID:15150775 PMID:15509792 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:20442690 PMID:21499692 PMID:21508141 PMID:22099579 PMID:23295293 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24856380 PMID:25501161 PMID:25741868 PMID:25818337 PMID:26069768 PMID:26248470 PMID:26467025 PMID:27013732 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29474669 PMID:30406062 PMID:30963316 PMID:32352694 PMID:32581362 PMID:32604935 PMID:34490048 More...
|
|
NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249
|
|
G |
WWC1 |
WW and C2 domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
|
NCBI chr 5:163,654,833...163,835,006
Ensembl chr 5:170,418,414...170,602,373
|
|
G |
XRCC1 |
X-ray repair cross complementing 1 |
treatment |
ISO |
|
RGD |
PMID:22982660 |
RGD:151347428 |
NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
|
|
|
G |
KDM4B |
lysine demethylase 4B |
|
ISO |
DNA:amplification:cds (human) |
RGD |
PMID:21785329 |
RGD:9587769 |
NCBI chr19:3,986,296...4,172,359
Ensembl chr19:4,977,413...5,116,113
|
|
|
G |
BAP1 |
BRCA1 associated protein 1 |
disease_progression |
ISO |
|
RGD |
PMID:27422796 |
RGD:127229946 |
NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
|
|
G |
BIRC5 |
baculoviral IAP repeat containing 5 |
exacerbates |
ISO |
mRNA:increased expression:pleura, lung (human) |
RGD |
PMID:17253596 |
RGD:153344528 |
NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159
|
|
G |
BIRC7 |
baculoviral IAP repeat containing 7 |
ameliorates |
ISO |
mRNA:increased expression:pleura, lung (human) |
RGD |
PMID:17253596 |
RGD:153344528 |
NCBI chr20:59,618,530...59,623,612
Ensembl chr20:61,157,302...61,161,932
|
|
G |
CSF1R |
colony stimulating factor 1 receptor |
|
ISO |
mRNA:increased expression:peritoneum�� (human) |
RGD |
PMID:24722292 |
RGD:150524278 |
NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415
|
|
G |
EMX2 |
empty spiracles homeobox 2 |
exacerbates |
ISO |
mRNA:decreased expression:mesothelium of pleural cavity (human) |
RGD |
PMID:25023662 |
RGD:153323312 |
NCBI chr10:114,124,759...114,132,109
Ensembl chr10:117,551,451...117,557,972
|
|
G |
EZH2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
disease_progression |
ISO |
mRNA, protein:increased expression:pleura |
RGD |
PMID:22028491 |
RGD:126781718 |
NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
|
|
G |
IL7R |
interleukin 7 receptor |
disease_progression |
ISO |
|
RGD |
PMID:26155428 |
RGD:151347688 |
NCBI chr 5:74,489,188...74,516,330
Ensembl chr 5:79,769,859...79,792,612
|
|
G |
KDM6A |
lysine demethylase 6A |
|
ISO |
mRNA:increased expression:mesothelium of pleural cavity (human) |
RGD |
PMID:28197626 |
RGD:150429737 |
NCBI chr X:37,313,000...37,548,630
Ensembl chr X:45,127,382...45,362,029
|
|
G |
LOC100977072 |
neuronal acetylcholine receptor subunit alpha-7 |
ameliorates |
ISO |
|
RGD |
PMID:18722110 |
RGD:151667912 |
NCBI chr15:10,525,535...10,667,227
Ensembl chr15:29,565,885...29,705,194
|
|
G |
MLH1 |
mutL homolog 1 |
disease_progression |
ISO |
|
RGD |
PMID:23810210 |
RGD:126848799 |
NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
|
|
G |
NCOA2 |
nuclear receptor coactivator 2 |
ameliorates |
ISO |
protein:increased expression:mesothelium of pleural cavity (human) |
RGD |
PMID:22011668 |
RGD:153002578 |
NCBI chr 8:66,632,139...66,929,526
Ensembl chr 8:68,293,018...68,400,479
|
|
G |
NF2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
disease_progression |
ISO |
DNA:loss of heterozygosity |
RGD |
PMID:26493618 PMID:26928227 PMID:27378628 |
RGD:11553131 RGD:150429647 RGD:150530638 |
NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013
|
|
G |
RAD21 |
RAD21 cohesin complex component |
|
ISO |
|
RGD |
PMID:19380173 |
RGD:150520037 |
NCBI chr 8:113,520,456...113,549,339
Ensembl chr 8:116,063,503...116,092,421
|
|
G |
SETD2 |
SET domain containing 2, histone lysine methyltransferase |
disease_progression |
ISO |
DNA:mutations:CDS:multiple (human) |
RGD |
PMID:26928227 PMID:33691361 |
RGD:150429647 RGD:150520202 |
NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999
|
|
G |
SLC7A5 |
solute carrier family 7 member 5 |
disease_progression |
ISO |
protein:increased expression:pleura |
RGD |
PMID:22199264 PMID:24912849 |
RGD:151361201 RGD:151660330 |
NCBI chr16:68,512,407...68,552,763
|
|
G |
SMO |
smoothened, frizzled class receptor |
disease_progression |
ISO |
DNA:missense mutations |
RGD |
PMID:23379358 PMID:33209614 |
RGD:150521620 RGD:150521621 |
NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048
|
|
G |
XIAP |
X-linked inhibitor of apoptosis |
ameliorates |
ISO |
mRNA:increased expression:pleura, lung (human) |
RGD |
PMID:17253596 |
RGD:153344528 |
NCBI chr X:113,052,164...113,105,160
Ensembl chr X:123,232,643...123,278,606
|
|
|
G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
|
ISO |
|
RGD |
PMID:15040115 |
RGD:8662355 |
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
|
|
|
G |
APC |
APC regulator of WNT signaling pathway |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17659810 |
|
NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
|
|
G |
BAP1 |
BRCA1 associated protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21642991 PMID:21874000 PMID:26119930 PMID:26719535 |
|
NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
|
|
G |
BCL10 |
BCL10 immune signaling adaptor |
|
ISO |
ClinVar Annotator: match by term: Mesothelioma |
ClinVar |
PMID:9989495 PMID:10380920 PMID:10408400 |
|
NCBI chr 1:117,823,388...117,834,314
|
|
G |
BIRC3 |
baculoviral IAP repeat containing 3 |
ameliorates |
ISO |
mRNA:increased expression:mesothelium (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194
|
|
G |
BIRC5 |
baculoviral IAP repeat containing 5 |
exacerbates |
ISO |
mRNA:increased expression:mesothelium (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159
|
|
G |
CAT |
catalase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11283936 |
|
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
|
|
G |
CDH1 |
cadherin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15639718 |
|
NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
|
|
G |
CDKN1B |
cyclin dependent kinase inhibitor 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18301454 |
|
NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541
|
|
G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
|
ISO |
DNA:deletion CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:18379362 PMID:20065947 |
RGD:7248760 |
NCBI chr 9:21,803,862...21,831,322
|
|
G |
CDKN2B |
cyclin dependent kinase inhibitor 2B |
|
ISO |
DNA:deletion |
RGD |
PMID:20065947 |
RGD:7248760 |
NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156
|
|
G |
DIO2 |
iodothyronine deiodinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11425850 |
|
NCBI chr14:60,756,781...60,775,255
|
|
G |
EGFR |
epidermal growth factor receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21787763 |
|
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
|
|
G |
EGR1 |
early growth response 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15878867 |
|
NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260
|
|
G |
EID1 |
EP300 interacting inhibitor of differentiation 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15920167 |
|
NCBI chr15:27,827,790...27,829,493
|
|
G |
EPHX1 |
epoxide hydrolase 1 |
|
ISO |
|
RGD |
PMID:16697254 |
RGD:4889125 |
NCBI chr 1:201,271,366...201,306,635
Ensembl chr 1:206,272,866...206,307,581
|
|
G |
ESR1 |
estrogen receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:15639718 PMID:17659810 |
RGD:4892302 |
NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
|
|
G |
FGF1 |
fibroblast growth factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15878867 |
|
NCBI chr 5:137,949,100...138,054,553
Ensembl chr 5:144,056,387...144,078,001
|
|
G |
FGF2 |
fibroblast growth factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15878867 |
|
NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942
|
|
G |
FHIT |
fragile histidine triad diadenosine triphosphatase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14569398 PMID:18038314 |
|
NCBI chr 3:59,670,777...61,177,974
|
|
G |
GDF10 |
growth differentiation factor 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18949431 |
|
NCBI chr10:46,498,600...46,511,933
|
|
G |
GPC3 |
glypican 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10656689 |
|
NCBI chr X:122,677,072...123,131,511
Ensembl chr X:132,979,612...133,432,441
|
|
G |
GSN |
gelsolin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15920167 |
|
NCBI chr 9:92,413,819...92,460,483
Ensembl chr 9:120,741,148...120,805,831
|
|
G |
GSTM1 |
glutathione S-transferase mu 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17290392 |
|
Ensembl chr 1:127,979,238...128,010,411
|
|
G |
IFNG |
interferon gamma |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12768194 |
|
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
|
|
G |
ITLN1 |
intelectin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15777968 |
|
NCBI chr 1:136,233,093...136,242,888
Ensembl chr 1:140,156,335...140,165,211
|
|
G |
JMJD6 |
jumonji domain containing 6, arginine demethylase and lysine hydroxylase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30619488 |
|
NCBI chr17:70,789,922...70,803,791
Ensembl chr17:76,356,142...76,370,117
|
|
G |
MSLN |
mesothelin |
|
ISO |
protein:increased secretion:body fluid CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:11751476 PMID:17785569 PMID:18394747 PMID:18505465 PMID:20933535 |
RGD:2326046 RGD:2326062 |
Ensembl chr16:777,146...783,449
|
|
G |
MTOR |
mechanistic target of rapamycin kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21358348 |
|
NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
|
|
G |
MUC1 |
mucin 1, cell surface associated |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18454162 |
|
NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850
|
|
G |
MYO18B |
myosin XVIIIB |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17294804 |
|
NCBI chr22:6,802,390...7,118,996
Ensembl chr22:24,529,348...24,816,779
|
|
G |
NF2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12136076 PMID:12168054 PMID:12802287 PMID:16166281 PMID:16319530 PMID:18835652 More...
|
|
NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013
|
|
G |
NME2 |
NME/NM23 nucleoside diphosphate kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15920167 |
|
NCBI chr17:45,255,982...45,261,541
|
|
G |
PDGFA |
platelet derived growth factor subunit A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11415934 |
|
NCBI chr 7:648,722...672,023
|
|
G |
PDGFC |
platelet derived growth factor C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15920167 |
|
NCBI chr 4:149,105,330...149,317,254
Ensembl chr 4:160,922,827...161,131,960
|
|
G |
PGR |
progesterone receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15639718 |
|
NCBI chr11:95,997,677...96,098,866
|
|
G |
PPP1R14A |
protein phosphatase 1 regulatory inhibitor subunit 14A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18835652 |
|
NCBI chr19:35,340,934...35,346,287
|
|
G |
PUF60 |
poly(U) binding splicing factor 60 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21435101 |
|
NCBI chr 8:140,571,688...140,584,778
Ensembl chr 8:143,583,451...143,597,399
|
|
G |
RASSF1 |
Ras association domain family member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12082623 PMID:15639718 |
|
NCBI chr 3:50,255,897...50,267,042
Ensembl chr 3:51,491,548...51,502,392
|
|
G |
SLC6A20 |
solute carrier family 6 member 20 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17659810 |
|
NCBI chr 3:45,663,830...45,703,576
Ensembl chr 3:46,770,067...46,811,158
|
|
G |
SOD2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9533946 PMID:11283936 PMID:15039138 PMID:17290392 |
|
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
|
|
G |
SPP1 |
secreted phosphoprotein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16221779 PMID:18550471 |
|
NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
|
|
G |
SYK |
spleen associated tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17659810 |
|
NCBI chr 9:61,859,767...61,956,619
Ensembl chr 9:89,959,599...90,056,101
|
|
G |
TNC |
tenascin C |
disease_progression |
ISO |
|
RGD |
PMID:12605648 PMID:16928692 |
RGD:4889571 RGD:4889612 |
NCBI chr 9:86,125,672...86,222,804
Ensembl chr 9:114,486,778...114,584,299
|
|
G |
TP53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12151629 |
|
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
|
|
G |
TXNRD1 |
thioredoxin reductase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17316382 |
|
NCBI chr12:101,862,703...101,925,104
Ensembl chr12:105,187,128...105,321,112
|
|
G |
WT1 |
WT1 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Mesothelioma |
ClinVar |
PMID:4332312 PMID:8298644 |
|
NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249
|
|
G |
XIAP |
X-linked inhibitor of apoptosis |
ameliorates |
ISO |
mRNA:increased expression:mesothelium (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr X:113,052,164...113,105,160
Ensembl chr X:123,232,643...123,278,606
|
|
G |
XRCC1 |
X-ray repair cross complementing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16564556 PMID:20705543 |
|
NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520
|
|
G |
XRCC3 |
X-ray repair cross complementing 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16564556 |
|
NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037
|
|
|
G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
|
ISO |
ClinVar Annotator: match by term: Metachondromatosis |
OMIM ClinVar |
PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 PMID:11992261 PMID:12058348 PMID:12161469 PMID:12161596 PMID:12325025 PMID:12529711 PMID:12634870 PMID:12717436 PMID:12826400 PMID:12900909 PMID:12960218 PMID:13908956 PMID:14634749 PMID:14644997 PMID:14676626 PMID:14961557 PMID:14974085 PMID:14982869 PMID:15001945 PMID:15009076 PMID:15121796 PMID:15240615 PMID:15248152 PMID:15273746 PMID:15385933 PMID:15389709 PMID:15520399 PMID:15539800 PMID:15604238 PMID:15689434 PMID:15710330 PMID:15712196 PMID:15723289 PMID:15725481 PMID:15761018 PMID:15834506 PMID:15842656 PMID:15889278 PMID:15928039 PMID:15929108 PMID:15940693 PMID:15948193 PMID:15956085 PMID:15985475 PMID:15987685 PMID:15996221 PMID:16053901 PMID:16078230 PMID:16115145 PMID:16124853 PMID:16166557 PMID:16263833 PMID:16338218 PMID:16358218 PMID:16369799 PMID:16377799 PMID:16399795 PMID:16461457 PMID:16488201 PMID:16498234 PMID:16518851 PMID:16523510 PMID:16533526 PMID:16631468 PMID:16638574 PMID:16643459 PMID:16672235 PMID:16679933 PMID:16733669 PMID:16804314 PMID:16830086 PMID:16892325 PMID:16924159 PMID:16987887 PMID:16990350 PMID:17020470 PMID:17052965 PMID:17143285 PMID:17177198 PMID:17222357 PMID:17227708 PMID:17339163 PMID:17361219 PMID:17497712 PMID:17515436 PMID:17546245 PMID:17576681 PMID:17641779 PMID:17661820 PMID:17875892 PMID:17910045 PMID:17935252 PMID:17972951 PMID:18241070 PMID:18253957 PMID:18331608 PMID:18372317 PMID:18373317 PMID:18378677 PMID:18454468 PMID:18470943 PMID:18562489 PMID:18678287 PMID:18758896 PMID:18759865 PMID:18849586 PMID:18854871 PMID:19008228 PMID:19017799 PMID:19020799 PMID:19047918 PMID:19054014 PMID:19061217 PMID:19063751 PMID:19077116 PMID:19125092 PMID:19133693 PMID:19174044 PMID:19179468 PMID:19251646 PMID:19260062 PMID:19352411 PMID:19449407 PMID:19509418 PMID:19568997 PMID:19706403 PMID:19725129 PMID:19737548 PMID:19768645 PMID:19825837 PMID:19835954 PMID:19864201 PMID:20030748 PMID:20186801 PMID:20237506 PMID:20301303 PMID:20301557 PMID:20308328 PMID:20383758 PMID:20493809 PMID:20535210 PMID:20577567 PMID:20578946 PMID:20651068 PMID:20718194 PMID:20883402 PMID:20931536 PMID:20954246 PMID:20979190 PMID:21204800 PMID:21321969 PMID:21339643 PMID:21340158 PMID:21365175 PMID:21365683 PMID:21407260 PMID:21533187 PMID:21548061 PMID:21567923 PMID:21590266 PMID:21706501 PMID:21744363 PMID:21747628 PMID:21784453 PMID:21901340 PMID:21910226 PMID:21910245 PMID:21934682 PMID:22190897 PMID:22315187 PMID:22371576 PMID:22411627 PMID:22420426 PMID:22465605 PMID:22488759 PMID:22551697 PMID:22555271 PMID:22585553 PMID:22681964 PMID:22711529 PMID:22781091 PMID:22822385 PMID:22847776 PMID:22848035 PMID:22923420 PMID:23297836 PMID:23317994 PMID:23321623 PMID:23334668 PMID:23446178 PMID:23457302 PMID:23513489 PMID:23584145 PMID:23624134 PMID:23673659 PMID:23726368 PMID:23756559 PMID:23771920 PMID:23813970 PMID:23832011 PMID:24033266 PMID:24037001 PMID:24039098 PMID:24072241 PMID:24150203 PMID:24183200 PMID:24219368 PMID:24401936 PMID:24451042 PMID:24458522 PMID:24628801 PMID:24718990 PMID:24728327 PMID:24754368 PMID:24767283 PMID:24775816 PMID:24803665 PMID:24820750 PMID:24891296 PMID:24896146 PMID:24935154 PMID:25097206 PMID:25156961 PMID:25231023 PMID:25326637 PMID:25337068 PMID:25383899 PMID:25395418 PMID:25425531 PMID:25500235 PMID:25533962 PMID:25544017 PMID:25585602 PMID:25595571 PMID:25612910 PMID:25722345 PMID:25731833 PMID:25741868 PMID:25741869 PMID:25742478 PMID:25862627 PMID:25884655 PMID:25912702 PMID:25917897 PMID:26084119 PMID:26206283 PMID:26242988 PMID:26286251 PMID:26337637 PMID:26372199 PMID:26456833 PMID:26467025 PMID:26495027 PMID:26556299 PMID:26607044 PMID:26645620 PMID:26673822 PMID:26785492 PMID:26817465 PMID:26822237 PMID:26918529 PMID:27038324 PMID:27069254 PMID:27104176 PMID:27117572 PMID:27149842 PMID:27153395 PMID:27193571 PMID:27238887 PMID:27276561 PMID:27353043 PMID:27484170 PMID:27521173 PMID:27562378 PMID:27626068 PMID:27659786 PMID:28051113 PMID:28074573 PMID:28135719 PMID:28363362 PMID:28483241 PMID:28492532 PMID:28628100 PMID:28650561 PMID:28681392 PMID:28748642 PMID:28921562 PMID:28957739 PMID:28991257 PMID:29038591 PMID:29057136 PMID:29146883 PMID:29214238 PMID:29263817 PMID:29276006 PMID:29346770 PMID:29493581 PMID:29517769 PMID:29555671 PMID:29703613 PMID:29848529 PMID:29907801 PMID:29988639 PMID:30025578 PMID:30050098 PMID:30055033 PMID:30287924 PMID:30294303 PMID:30311386 PMID:30355600 PMID:30410095 PMID:30417923 PMID:30455982 PMID:30515541 PMID:30541462 PMID:30602027 PMID:30604644 PMID:30692697 PMID:30693642 PMID:30732632 PMID:30784236 PMID:30896080 PMID:31040167 PMID:31064749 PMID:31219622 PMID:31370276 PMID:31560489 PMID:31573083 PMID:31637070 PMID:31827275 PMID:32059087 PMID:32164556 PMID:32233106 PMID:32371413 PMID:32581362 PMID:32719394 PMID:32746448 PMID:32824488 PMID:32860008 PMID:32901917 PMID:32963807 PMID:33091040 PMID:33318624 PMID:34006472 PMID:34008892 PMID:35418823 PMID:35885957 PMID:35904599 PMID:35979676 More...
|
|
NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
|
|
G |
RPL6 |
ribosomal protein L6 |
|
ISO |
ClinVar Annotator: match by term: Metachondromatosis |
ClinVar |
|
|
NCBI chr12:110,002,667...110,008,899
Ensembl chr12:113,398,795...113,403,186
|
|
|
G |
STAMBP |
STAM binding protein |
|
ISO |
ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome | ClinVar Annotator: match by term: STAMBP-related condition |
OMIM ClinVar |
PMID:18414213 PMID:21271646 PMID:21815250 PMID:23542699 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29907875 More...
|
|
NCBI chr2A:73,900,128...73,936,571
Ensembl chr2A:75,410,434...75,451,086
|
|
|
G |
DAXX |
death domain associated protein |
|
ISO |
protein:increased expression:ovary: |
RGD |
PMID:23539629 |
RGD:9587820 |
NCBI chr 6:32,890,846...32,895,307
Ensembl chr 6:34,004,543...34,008,717
|
|
|
G |
GJA4 |
gap junction protein alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Cutaneous venous malformation |
ClinVar |
PMID:33912852 |
|
NCBI chr 1:34,059,901...34,063,181
|
|
G |
TEK |
TEK receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Multiple cutaneous and mucosal venous malformations | ClinVar Annotator: match by term: Segmental undergrowth associated with venous malformation without capillary component |
OMIM ClinVar |
PMID:7783168 PMID:7833915 PMID:8415706 PMID:8980225 PMID:9926914 PMID:10369874 PMID:19888299 PMID:20301733 PMID:25326635 PMID:25741868 PMID:26319232 PMID:27270174 PMID:28492532 More...
|
|
NCBI chr 9:26,955,339...27,077,809
Ensembl chr 9:27,561,421...27,683,572
|
|
|
G |
EXT1 |
exostosin glycosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I |
OMIM ClinVar |
PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 PMID:9620772 PMID:10639137 PMID:10679296 PMID:10679937 PMID:10713884 PMID:11170095 PMID:11391482 PMID:11432960 PMID:15253765 PMID:15586175 PMID:16088908 PMID:16199547 PMID:16283885 PMID:17041877 PMID:17301954 PMID:18165274 PMID:18330718 PMID:19810120 PMID:20418910 PMID:22258776 PMID:23262345 PMID:23439489 PMID:24532482 PMID:24728327 PMID:25230886 PMID:25468659 PMID:25741868 PMID:26239617 PMID:26515642 PMID:26690531 PMID:26961984 PMID:28492532 PMID:29126381 PMID:29529714 PMID:30334991 PMID:30806661 More...
|
|
NCBI chr 8:114,489,325...114,803,763
Ensembl chr 8:117,011,919...117,324,851
|
|
G |
EXT2 |
exostosin glycosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I |
ClinVar |
PMID:23262345 PMID:24728327 PMID:25741868 PMID:28492532 |
|
NCBI chr11:44,055,670...44,204,055
Ensembl chr11:44,522,797...44,699,447
|
|
|
G |
EXT2 |
exostosin glycosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE II | ClinVar Annotator: match by term: Exostoses, multiple, type 2 |
OMIM ClinVar |
PMID:8894688 PMID:9326317 PMID:9463333 PMID:9536098 PMID:10480354 PMID:10671060 PMID:10679937 PMID:10713884 PMID:10750558 PMID:11169766 PMID:11170095 PMID:11432960 PMID:11668521 PMID:12239711 PMID:12490068 PMID:15221792 PMID:15586175 PMID:15796962 PMID:16088908 PMID:16199547 PMID:16283885 PMID:17041877 PMID:17301954 PMID:17576681 PMID:17589361 PMID:18165274 PMID:18373409 PMID:18666861 PMID:18976157 PMID:19309273 PMID:19344451 PMID:19504431 PMID:19810120 PMID:19839753 PMID:20425833 PMID:21520333 PMID:21703028 PMID:22258776 PMID:22382802 PMID:22820392 PMID:23262345 PMID:23439489 PMID:23629877 PMID:24496678 PMID:24532482 PMID:24728327 PMID:24728384 PMID:25230886 PMID:25449079 PMID:25468659 PMID:25591329 PMID:25741868 PMID:25744876 PMID:26246518 PMID:26402641 PMID:26961984 PMID:28166811 PMID:28492532 PMID:28690282 PMID:28849184 PMID:29126381 PMID:29529714 PMID:29625052 PMID:30075207 PMID:30288735 PMID:30334991 PMID:30806661 PMID:30997052 PMID:31030431 PMID:31096510 PMID:32293802 PMID:34070849 PMID:34092239 More...
|
|
NCBI chr11:44,055,670...44,204,055
Ensembl chr11:44,522,797...44,699,447
|
|
|
G |
PRLR |
prolactin receptor |
|
ISO |
ClinVar Annotator: match by term: Multiple fibroadenomas of the breast |
OMIM ClinVar |
PMID:18779591 |
|
NCBI chr 5:75,139,852...75,321,695
Ensembl chr 5:80,532,058...80,600,403
|
|
|
G |
NLRP1 |
NLR family pyrin domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing |
ClinVar OMIM |
PMID:17377159 PMID:23349227 PMID:24033266 PMID:25050600 PMID:25741868 PMID:27662089 PMID:28492532 More...
|
|
NCBI chr17:5,562,129...5,667,765
Ensembl chr17:5,542,007...5,623,091
|
|
|
G |
ZDBF2 |
zinc finger DBF-type containing 2 |
|
ISO |
ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome |
ClinVar |
PMID:23636874 PMID:27139419 |
|
NCBI chr2B:93,516,875...93,556,652
Ensembl chr2B:211,645,765...211,685,047
|
|
|
G |
ATAD5 |
ATPase family AAA domain containing 5 |
|
ISO |
mRNA:increased expression:neural tissue (human) |
RGD |
PMID:20844836 |
RGD:11552594 |
NCBI chr17:25,944,259...26,009,317
Ensembl chr17:25,436,195...25,496,242
|
|
G |
AXL |
AXL receptor tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25551830 |
|
NCBI chr19:38,211,555...38,254,464
Ensembl chr19:46,719,615...46,761,747
|
|
G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
|
ISO |
DNA,protein:deletion,decreased expression: : |
RGD |
PMID:10595918 |
RGD:1358481 |
NCBI chr 9:21,803,862...21,831,322
|
|
G |
EED |
embryonic ectoderm development |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25119042 |
|
NCBI chr11:81,295,068...81,330,321
Ensembl chr11:84,902,330...84,937,906
|
|
G |
KDR |
kinase insert domain receptor |
|
ISO |
mRNA:decreased expression:brain: |
RGD |
PMID:17570036 |
RGD:8552334 |
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
|
|
G |
LOC103785028 |
polycomb protein SUZ12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25119042 |
|
NCBI chr17:24,790,921...24,853,790
|
|
G |
LZTR1 |
leucine zipper like post translational regulator 1 |
|
ISO |
DNA:missense mutation:cds,multiple (human) |
RGD |
PMID:24362817 |
RGD:151676717 |
NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007
|
|
G |
NF1 |
neurofibromin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25119042 |
|
NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295
|
|
G |
NF2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
|
ISO |
DNA:loss of heterozygosity |
RGD |
PMID:7669741 |
RGD:150530508 |
NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013
|
|
G |
PECAM1 |
platelet and endothelial cell adhesion molecule 1 |
severity |
ISO |
protein:increased expression:tumor (human) |
RGD |
PMID:22555941 |
RGD:6771228 |
NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067
|
|
G |
SERPINE1 |
serpin family E member 1 |
|
ISO |
mRNA,protein:increased expression:schwann cell |
RGD |
PMID:14963743 |
RGD:13208544 |
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
|
|
G |
SIX1 |
SIX homeobox 1 |
|
ISO |
mRNA:increased expression:Schwann cell (human) |
RGD |
PMID:19901965 |
RGD:11561959 |
NCBI chr14:41,250,512...41,256,567
Ensembl chr14:59,515,324...59,527,494
|
|
G |
SMARCB1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
|
ISO |
ClinVar Annotator: match by term: Schwannoma |
ClinVar |
PMID:18647326 PMID:22434358 PMID:22949514 PMID:24933152 PMID:25631985 PMID:25741868 PMID:28492532 PMID:29517885 PMID:34747535 More...
|
|
NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921
|
|
G |
SNCA |
synuclein alpha |
|
ISO |
protein:increased expression:cytoplasm |
RGD |
PMID:11810180 |
RGD:6218996 |
NCBI chr 4:82,018,585...82,132,938
Ensembl chr 4:92,737,608...92,850,600
|
|
G |
WT1 |
WT1 transcription factor |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:25474318 |
|
NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249
|
|
|
G |
CLUAP1 |
clusterin associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome |
ClinVar |
PMID:26820066 |
|
NCBI chr16:2,423,563...2,461,486
Ensembl chr16:3,600,370...3,637,622
|
|
G |
KRAS |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Aplasia cutis congenita with epibulbar dermoids | ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC | ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome |
OMIM ClinVar |
PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:8456858 PMID:12110640 PMID:12460918 PMID:14982869 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17384584 PMID:17409930 PMID:18316791 PMID:18456719 PMID:18628094 PMID:18794081 PMID:19018267 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20147967 PMID:20570890 PMID:20652921 PMID:20921462 PMID:20921465 PMID:20949621 PMID:20978259 PMID:21063026 PMID:21228335 PMID:21371307 PMID:21398618 PMID:21975775 PMID:22392911 PMID:22407852 PMID:22571758 PMID:22734028 PMID:23182985 PMID:23406027 PMID:24033266 PMID:24558511 PMID:24720724 PMID:24740626 PMID:24803665 PMID:24836576 PMID:25157968 PMID:25251940 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26110767 PMID:26623049 PMID:26970110 PMID:28492532 PMID:29948256 PMID:30289595 PMID:30448735 PMID:30891959 PMID:32934698 PMID:34117033 More...
|
|
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
|
|
G |
NLRP5 |
NLR family pyrin domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome |
ClinVar |
PMID:20738330 PMID:26323243 |
|
NCBI chr19:53,021,034...53,083,590
Ensembl chr19:61,818,345...61,879,538
|
|
|
G |
ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
severity |
ISO |
DNA:mutations |
RGD |
PMID:16676365 |
RGD:126925209 |
NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
|
|
G |
ADA |
adenosine deaminase |
disease_progression |
ISO |
|
RGD |
PMID:27221867 |
RGD:152995268 |
NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
|
|
G |
AGAP2 |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 |
disease_progression |
ISO |
|
RGD |
PMID:26464646 |
RGD:11526681 |
NCBI chr12:31,187,821...31,201,594
|
|
G |
ANGPT1 |
angiopoietin 1 |
|
ISO |
protein:decreased expression:oral mucosa (human) |
RGD |
PMID:26044849 |
RGD:153323290 |
NCBI chr 8:103,893,234...104,137,661
Ensembl chr 8:106,042,041...106,286,783
|
|
G |
ANGPT2 |
angiopoietin 2 |
|
ISO |
protein:increased expression:oral mucosa (human) |
RGD |
PMID:26044849 |
RGD:153323290 |
NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915
|
|
G |
ARID2 |
AT-rich interaction domain 2 |
disease_progression |
ISO |
|
RGD |
PMID:31918270 |
RGD:150340710 |
NCBI chr12:42,823,236...43,004,465
Ensembl chr12:43,692,914...43,871,564
|
|
G |
ARPC1B |
actin related protein 2/3 complex subunit 1B |
severity |
ISO |
protein:increased expression:oral mucosa (human) |
RGD |
PMID:26138391 |
RGD:11046268 |
NCBI chr 7:91,348,120...91,368,299
Ensembl chr 7:104,861,582...104,870,369
|
|
G |
ATM |
ATM serine/threonine kinase |
disease_progression |
ISO |
protein:increased expression:mucosa of oral region (human) |
RGD |
PMID:18288488 PMID:29928356 |
RGD:150340604 RGD:150340709 |
NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
|
|
G |
ATP6V1C1 |
ATPase H+ transporting V1 subunit C1 |
|
ISO |
|
RGD |
PMID:26984774 |
RGD:14700648 |
NCBI chr 8:99,521,146...99,725,603
Ensembl chr 8:101,832,538...101,883,956
|
|
G |
AXIN1 |
axin 1 |
disease_progression |
ISO |
protein:decreased expression:oral epithelium (human) mRNA:increased expression:oral epithelium (human) |
RGD |
PMID:17143481 PMID:21393552 |
RGD:150530474 RGD:150530486 |
Ensembl chr16:278,239...337,891
|
|
G |
AXIN2 |
axin 2 |
susceptibility disease_progression ameliorates |
ISO |
DNA:SNP:intron: C>T (rs3923087)(human) |
RGD |
PMID:21393552 PMID:33046030 |
RGD:150530486 RGD:151356656 |
NCBI chr17:59,476,336...59,509,358
Ensembl chr17:64,688,416...64,720,086
|
|
G |
BARHL2 |
BarH like homeobox 2 |
|
ISO |
|
RGD |
PMID:27542258 |
RGD:14390167 |
NCBI chr 1:93,373,317...93,378,667
Ensembl chr 1:92,121,017...92,126,036
|
|
G |
BCL2L1 |
BCL2 like 1 |
|
ISO |
mRNA, protein:increased expression:mouth (human) |
RGD |
PMID:34111459 |
RGD:153344573 |
NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
|
|
G |
BHLHE41 |
basic helix-loop-helix family member e41 |
treatment |
ISO |
Human cells in mouse model |
RGD |
PMID:27602964 |
RGD:151665310 |
NCBI chr12:60,194,758...60,199,344
|
|
G |
BIRC2 |
baculoviral IAP repeat containing 2 |
|
ISO |
protein:increased expression:oral cavity (human) |
RGD |
PMID:20967871 |
RGD:152999012 |
NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421
|
|
G |
BIRC3 |
baculoviral IAP repeat containing 3 |
ameliorates disease_progression |
ISO |
protein:decreased expression:oral cavity (human) protein:increased expression:oral cavity (human) mRNA:increased expression:oral cavity (human) |
RGD |
PMID:20967871 PMID:21952624 PMID:23852810 PMID:29286141 |
RGD:152998980 RGD:152998987 RGD:152999009 RGD:152999012 |
NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194
|
|
G |
BIRC5 |
baculoviral IAP repeat containing 5 |
|
ISO |
protein:increased expression:oral cavity (human) |
RGD |
PMID:20967871 |
RGD:152999012 |
NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159
|
|
G |
BRINP2 |
BMP/retinoic acid inducible neural specific 2 |
|
ISO |
DNA:amplication:oral epithelium |
RGD |
PMID:21334929 |
RGD:14398483 |
NCBI chr 1:152,694,667...152,806,085
Ensembl chr 1:156,450,411...156,502,742
|
|
G |
BST2 |
bone marrow stromal cell antigen 2 |
disease_progression |
ISO |
|
RGD |
PMID:24706327 |
RGD:14398491 |
NCBI chr19:16,890,257...16,892,989
Ensembl chr19:17,863,991...17,866,728
|
|
G |
BTK |
Bruton tyrosine kinase |
treatment |
ISO |
mRNA:increased expression:oral epithelium (human) |
RGD |
PMID:33640903 |
RGD:151347851 |
NCBI chr X:90,551,874...90,588,786
Ensembl chr X:100,684,017...100,725,187
|
|
G |
CA12 |
carbonic anhydrase 12 |
disease_progression |
ISO |
|
RGD |
PMID:22172588 |
RGD:153352330 |
NCBI chr15:42,270,188...42,328,952
Ensembl chr15:60,565,592...60,624,008
|
|
G |
CALR |
calreticulin |
exacerbates |
ISO |
protein:increased expression:oral epithelium (human) protein:increased expression:mouth (human) |
RGD |
PMID:23375593 PMID:28599487 |
RGD:150520158 RGD:150521688 |
NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416
|
|
G |
CAMK2N1 |
calcium/calmodulin dependent protein kinase II inhibitor 1 |
|
ISO |
|
RGD |
PMID:30205384 |
RGD:18337270 |
NCBI chr 1:19,437,761...19,441,573
Ensembl chr 1:20,479,562...20,482,600
|
|
G |
CBX2 |
chromobox 2 |
disease_progression |
ISO |
|
RGD |
PMID:24885002 |
RGD:9586732 |
NCBI chr17:73,858,381...73,867,811
Ensembl chr17:79,394,550...79,404,545
|
|
G |
CCL2 |
C-C motif chemokine ligand 2 |
susceptibility disease_progression |
ISO |
DNA:polymorphism,haplotype::2518A>G(human) associated with social isolation;protein:increased expression:tongue (rat) |
RGD |
PMID:21883707 PMID:33411841 |
RGD:152998999 RGD:8661694 |
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
|
|
G |
CCR2 |
C-C motif chemokine receptor 2 |
susceptibility |
ISO |
DNA:polymorphism,haplotype:cds:p.V64I(human) |
RGD |
PMID:21883707 |
RGD:8661694 |
NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
|
|
G |
CDC73 |
cell division cycle 73 |
|
ISO |
mRNA:altered expression: tongue, oral cavity (human) |
RGD |
PMID:24257751 |
RGD:150537040 |
NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934
|
|
G |
CDH1 |
cadherin 1 |
disease_progression |
ISO |
|
RGD |
PMID:26464646 |
RGD:11526681 |
NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
|
|
G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
susceptibility no_association disease_progression |
ISO |
DNA:polymorphism:exon:149A>G(human) DNA:polymorphism: :98C>A(human) |
RGD |
PMID:10873097 PMID:15817070 PMID:18251939 |
RGD:8662371 RGD:8662374 RGD:8662395 |
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
|
|
G |
CERS1 |
ceramide synthase 1 |
exacerbates |
ISO |
|
RGD |
PMID:33753723 |
RGD:156431057 |
NCBI chr19:18,308,265...18,334,892
Ensembl chr19:19,317,173...19,342,487
|
|
G |
CHAF1B |
chromatin assembly factor 1 subunit B |
disease_progression |
ISO |
protein:increased expression:mouth mucosa: |
RGD |
PMID:22882088 |
RGD:9587477 |
NCBI chr21:22,755,721...22,786,958
Ensembl chr21:36,113,971...36,143,575
|
|
G |
CLPTM1L |
CLPTM1 like |
susceptibility |
ISO |
DNA:SNP: :rs402710(human) |
RGD |
PMID:28025427 |
RGD:150530487 |
Ensembl chr 5:1,361,571...1,388,415
|
|
G |
CTNND1 |
catenin delta 1 |
disease_progression |
ISO |
|
RGD |
PMID:26464646 |
RGD:11526681 |
NCBI chr11:53,000,582...53,058,054
Ensembl chr11:56,470,174...56,527,593
|
|
G |
CYP1A1 |
cytochrome P450 family 1 subfamily A member 1 |
|
ISO |
|
RGD |
PMID:22660220 |
RGD:14700952 |
NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
|
|
G |
CYP24A1 |
cytochrome P450 family 24 subfamily A member 1 |
susceptibility |
ISO |
DNA:SNP:exon: (rs2296241) (human) |
RGD |
PMID:22612324 |
RGD:151665337 |
NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716
|
|
G |
CYP2E1 |
cytochrome P450 family 2 subfamily E member 1 |
|
ISO |
|
RGD |
PMID:22954124 |
RGD:14700880 |
Ensembl chr10:134,839,025...134,852,719
|
|
G |
DAXX |
death domain associated protein |
ameliorates |
ISO |
human cell line in a mouse model |
RGD |
PMID:26205068 |
RGD:152025200 |
NCBI chr 6:32,890,846...32,895,307
Ensembl chr 6:34,004,543...34,008,717
|
|
G |
DDR1 |
discoidin domain receptor tyrosine kinase 1 |
|
ISO |
mRNA, protein:increased expression:mouth (human) |
RGD |
PMID:31253192 |
RGD:151347620 |
NCBI chr 6:30,625,871...30,645,066
Ensembl chr 6:31,496,047...31,513,455
|
|
G |
DDR2 |
discoidin domain receptor tyrosine kinase 2 |
severity |
ISO |
|
RGD |
PMID:29945346 |
RGD:150429700 |
NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766
|
|
G |
DNMT3B |
DNA methyltransferase 3 beta |
disease_progression |
ISO |
|
RGD |
PMID:24625449 |
RGD:9589120 |
NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487
|
|
G |
DOCK6 |
dedicator of cytokinesis 6 |
disease_progression |
ISO |
|
RGD |
PMID:34742001 |
RGD:155791563 |
NCBI chr19:10,747,850...10,811,483
Ensembl chr19:11,459,062...11,513,220
|
|
G |
EFNB2 |
ephrin B2 |
|
ISO |
protein:increased expression:oral mucosa (human) |
RGD |
PMID:26044849 |
RGD:153323290 |
NCBI chr13:87,629,831...87,675,652
Ensembl chr13:106,770,296...106,815,548
|
|
G |
EGFR |
epidermal growth factor receptor |
|
ISO |
|
RGD |
PMID:11673832 |
RGD:126781761 |
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
|
|
G |
ERBB2 |
erb-b2 receptor tyrosine kinase 2 |
|
ISO |
|
RGD |
PMID:11673832 |
RGD:126781761 |
NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
|
|
G |
ERBB4 |
erb-b2 receptor tyrosine kinase 4 |
disease_progression |
ISO |
|
RGD |
PMID:14595263 |
RGD:126781770 |
NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
|
|
G |
EZH2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
susceptibility |
ISO |
DNA:SNPs, haplotypes: :multiple associated with oral mucosa leukoplakia |
RGD |
PMID:21697275 PMID:24122997 PMID:26807327 |
RGD:126779588 RGD:126779606 RGD:126781699 |
NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
|
|
G |
FAT1 |
FAT atypical cadherin 1 |
onset |
ISO |
protein:increased expression:tongue (mouse) DNA:mutations:multiple |
RGD |
PMID:28435450 PMID:30624777 |
RGD:151347668 RGD:151347687 |
NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357
|
|
G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
ISO |
associated with human papillomavirus;DNA:missense mutation:cds: p.S249C (human) |
RGD |
PMID:30563911 |
RGD:38500239 |
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
|
|
G |
FGFR4 |
fibroblast growth factor receptor 4 |
severity |
ISO |
DNA:SNP:exon 9: p.G388R (human) |
RGD |
PMID:20127014 |
RGD:150520164 |
NCBI chr 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605
|
|
G |
FLT3 |
fms related receptor tyrosine kinase 3 |
|
ISO |
mRNA:decreased expression:oral epithelium (human) |
RGD |
PMID:32048621 |
RGD:149735374 |
NCBI chr13:9,283,747...9,381,553
Ensembl chr13:27,627,178...27,723,940
|
|
G |
FOSL2 |
FOS like 2, AP-1 transcription factor subunit |
|
ISO |
mRNA, protein:increased expression:mouth (human) |
RGD |
PMID:34111459 |
RGD:153344573 |
NCBI chr2A:28,392,328...28,416,838
Ensembl chr2A:28,485,613...28,498,397
|
|
G |
GAPDH |
glyceraldehyde-3-phosphate dehydrogenase |
|
ISO |
|
RGD |
PMID:27375172 |
RGD:13792673 |
NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729
|
|
G |
GPX1 |
glutathione peroxidase 1 |
exacerbates |
ISO |
protein:increased expression:oral cavity (human) |
RGD |
PMID:28653098 |
RGD:152995473 |
NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
|
|
G |
GPX4 |
glutathione peroxidase 4 |
disease_progression |
ISO |
protein:increased expression:oral cavity (human) |
RGD |
PMID:28653098 |
RGD:152995473 |
NCBI chr19:20,904...23,828
|
|
G |
GSK3B |
glycogen synthase kinase 3 beta |
susceptibility |
ISO |
DNA:SNP:intron: (rs9879992) (human) |
RGD |
PMID:21393552 |
RGD:150530486 |
NCBI chr 3:116,943,205...117,215,001
Ensembl chr 3:123,861,379...124,126,771
|
|
G |
GSTM1 |
glutathione S-transferase mu 1 |
severity |
ISO |
DNA:deletion: : (human) |
RGD |
PMID:14662415 PMID:22213390 |
RGD:12792245 RGD:14700962 |
Ensembl chr 1:127,979,238...128,010,411
|
|
G |
GSTP1 |
glutathione S-transferase pi 1 |
|
ISO |
mRNA,protein:decreased expression:mucosa: |
RGD |
PMID:16982972 |
RGD:10755432 |
NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
|
|
G |
HES1 |
hes family bHLH transcription factor 1 |
|
ISO |
protein:increased expression:tongue (mouse) |
RGD |
PMID:30624777 |
RGD:151347668 |
NCBI chr 3:191,432,513...191,435,387
Ensembl chr 3:201,749,044...201,754,257
|
|
G |
IL10 |
interleukin 10 |
susceptibility |
ISO |
DNA:SNP:promoter:-592A>C (human) |
RGD |
PMID:28157558 |
RGD:14975130 |
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
|
|
G |
IL13RA2 |
interleukin 13 receptor subunit alpha 2 |
|
ISO |
|
RGD |
PMID:19065664 |
RGD:8549498 |
NCBI chr X:104,092,993...104,146,062
Ensembl chr X:114,597,077...114,635,253
|
|
G |
IL1B |
interleukin 1 beta |
disease_progression |
ISO |
associated with social isolation;protein:increased expression:tongue (rat) |
RGD |
PMID:33411841 |
RGD:152998999 |
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
|
|
G |
IL2 |
interleukin 2 |
|
ISO |
|
RGD |
PMID:10389944 |
RGD:8662949 |
NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
|
|
G |
IL6 |
interleukin 6 |
disease_progression |
ISO |
|
RGD |
PMID:24625449 |
RGD:9589120 |
NCBI chr 7:23,415,922...23,420,767
|
|
G |
JUN |
Jun proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
mRNA, protein:increased expression:mouth (human) |
RGD |
PMID:34111459 |
RGD:153344573 |
NCBI chr 1:58,042,794...58,045,536
|
|
G |
JUNB |
JunB proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
associated with papillomavirus infectious disease;protein:increased expression:oral cavity (human) |
RGD |
PMID:28155253 |
RGD:151347666 |
NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974
|
|
G |
KMT2D |
lysine methyltransferase 2D |
severity |
ISO |
|
RGD |
PMID:31660637 |
RGD:150521713 |
NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
|
|
G |
LOC100980965 |
zinc-alpha-2-glycoprotein |
|
ISO |
protein:increased expression:saliva protein:decreased expression:saliva |
RGD |
PMID:29199150 PMID:33564003 |
RGD:153350131 RGD:153350144 |
NCBI chr 7:91,999,717...92,009,066
Ensembl chr 7:105,432,782...105,442,219
|
|
G |
LOC100994157 |
histone H2AX |
disease_progression |
ISO |
protein:increased expression:mucosa of oral region (human) |
RGD |
PMID:29928356 |
RGD:150340604 |
NCBI chr11:113,932,078...113,933,679
|
|
G |
MCPH1 |
microcephalin 1 |
|
ISO |
mRNA:protein:decreased expression:oral cavity, tissue (human) |
RGD |
PMID:23472065 |
RGD:9589036 |
NCBI chr 8:624,877...877,839
Ensembl chr 8:6,409,072...6,646,394
|
|
G |
MET |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
protein:increased expression, altered expression:mouth mucosa: |
RGD |
PMID:20662906 |
RGD:8548617 |
NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
|
|
G |
MTHFR |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
DNA:missense mutation:cds:677C>T (human) |
RGD |
PMID:16365753 |
RGD:10449416 |
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
|
|
G |
NAIP |
NLR family apoptosis inhibitory protein |
|
ISO |
protein:increased expression:oral cavity (human) |
RGD |
PMID:20967871 |
RGD:152999012 |
NCBI chr 5:44,345,623...44,401,358
Ensembl chr 5:45,920,125...45,973,937
|
|
G |
NOTCH1 |
notch receptor 1 |
|
ISO |
protein:increased expression:tongue (mouse) |
RGD |
PMID:30624777 |
RGD:151347668 |
NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
|
|
G |
PECAM1 |
platelet and endothelial cell adhesion molecule 1 |
|
ISO |
protein:decreased expression:oral mucosa (human) |
RGD |
PMID:26044849 |
RGD:153323290 |
NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067
|
|
G |
PLAU |
plasminogen activator, urokinase |
severity |
ISO |
protein:increased expression:oral mucosa (rat) |
RGD |
PMID:15878520 |
RGD:8547730 |
NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136
|
|
G |
PLCG1 |
phospholipase C gamma 1 |
disease_progression ameliorates |
ISO |
protein:decreased expression:oral cavity (human) |
RGD |
PMID:25085076 PMID:26464646 |
RGD:11526681 RGD:151356936 |
NCBI chr20:37,477,077...37,515,854
Ensembl chr20:38,572,709...38,615,145
|
|
G |
PRDX2 |
peroxiredoxin 2 |
|
ISO |
protein:increased expression:saliva |
RGD |
PMID:29199150 |
RGD:153350131 |
NCBI chr19:12,359,084...12,363,552
Ensembl chr19:13,103,422...13,107,369
|
|
G |
PTEN |
phosphatase and tensin homolog |
disease_progression |
ISO |
protein:increased expression:oral epithelium (human) |
RGD |
PMID:33109573 |
RGD:127285606 |
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
|
|
G |
PTGIS |
prostaglandin I2 synthase |
|
ISO |
mRNA,protein:decreased expression:mouth mucosa (human) |
RGD |
PMID:30532780 |
RGD:151347832 |
NCBI chr20:45,841,238...45,905,641
Ensembl chr20:46,905,665...46,971,612
|
|
G |
PTPN13 |
protein tyrosine phosphatase non-receptor type 13 |
treatment |
ISO |
|
RGD |
PMID:21176871 |
RGD:152600900 |
NCBI chr 4:78,893,598...79,118,745
Ensembl chr 4:89,623,271...89,847,616
|
|
G |
RAD21 |
RAD21 cohesin complex component |
exacerbates |
ISO |
mRNA:decreased expression:oral cavity (human) |
RGD |
PMID:16416296 |
RGD:150520028 |
NCBI chr 8:113,520,456...113,549,339
Ensembl chr 8:116,063,503...116,092,421
|
|
G |
RELA |
RELA proto-oncogene, NF-kB subunit |
|
ISO |
protein:increased expression:mouth (human) |
RGD |
PMID:34111459 |
RGD:153344573 |
NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
|
|
G |
SERPINE1 |
serpin family E member 1 |
severity disease_progression |
ISO |
protein:increased expression:oral mucosa (rat) |
RGD |
PMID:15878520 PMID:24999729 |
RGD:13208508 RGD:8547730 |
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
|
|
G |
SKP2 |
S-phase kinase associated protein 2 |
|
ISO |
protein:increased expression:mucosa of oral region (human) |
RGD |
PMID:24743017 |
RGD:151665336 |
NCBI chr 5:74,179,608...74,211,563
Ensembl chr 5:79,461,018...79,492,311
|
|
G |
SLC7A5 |
solute carrier family 7 member 5 |
severity |
ISO |
|
RGD |
PMID:23801167 |
RGD:151361213 |
NCBI chr16:68,512,407...68,552,763
|
|
G |
TERT |
telomerase reverse transcriptase |
susceptibility |
ISO |
DNA:SNPs: :rs2736100,rs2736098(human) |
RGD |
PMID:28025427 |
RGD:150530487 |
Ensembl chr 5:1,300,960...1,338,872
|
|
G |
TET2 |
tet methylcytosine dioxygenase 2 |
|
ISO |
protein:decreased expression:oral epithelium (human) |
RGD |
PMID:24122999 |
RGD:150429611 |
NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400
|
|
G |
TNF |
tumor necrosis factor |
disease_progression |
ISO |
associated with social isolation;protein:increased expression:tongue (rat) |
RGD |
PMID:33411841 |
RGD:152998999 |
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
|
|
G |
TP53 |
tumor protein p53 |
|
ISO |
DNA:missense mutations: :multiple protein:increased expression:mouth (human) |
RGD |
PMID:27283772 PMID:34111459 |
RGD:14995497 RGD:153344573 |
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
|
|
G |
TTR |
transthyretin |
|
ISO |
protein:increased expression:saliva (human) |
RGD |
PMID:23784731 |
RGD:151664609 |
NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960
|
|
G |
VEGFA |
vascular endothelial growth factor A |
|
ISO |
protein:increased expression:oral mucosa (human) |
RGD |
PMID:26044849 |
RGD:153323290 |
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
|
|
G |
WNT11 |
Wnt family member 11 |
susceptibility |
ISO |
DNA:SNP:exon: A>G (rs1533767) (human) |
RGD |
PMID:21393552 |
RGD:150530486 |
NCBI chr11:71,239,781...71,263,915
Ensembl chr11:74,540,169...74,560,024
|
|
|
G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20577567 |
|
NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
|
|
|
G |
EXT1 |
exostosin glycosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS |
ClinVar |
PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 PMID:9620772 PMID:10639137 PMID:10679296 PMID:10679937 PMID:10713884 PMID:11170095 PMID:11391482 PMID:11432960 PMID:15253765 PMID:15586175 PMID:16088908 PMID:16199547 PMID:16283885 PMID:17041877 PMID:17301954 PMID:18165274 PMID:18330718 PMID:19810120 PMID:20418910 PMID:22258776 PMID:23262345 PMID:23439489 PMID:24532482 PMID:24728327 PMID:25230886 PMID:25468659 PMID:25741868 PMID:26239617 PMID:26515642 PMID:26690531 PMID:26961984 PMID:28492532 PMID:28690282 PMID:29126381 PMID:29529714 PMID:30334991 PMID:30806661 More...
|
|
NCBI chr 8:114,489,325...114,803,763
Ensembl chr 8:117,011,919...117,324,851
|
|
G |
EXT2 |
exostosin glycosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: OSTEOCHONDROMATOSIS |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr11:44,055,670...44,204,055
Ensembl chr11:44,522,797...44,699,447
|
|
|
G |
KIT |
KIT proto-oncogene, receptor tyrosine kinase |
|
ISO |
mRNA:increased expression:tumor:positive in 7/8 renal oncocytomas |
RGD |
PMID:15780567 |
RGD:2292414 |
NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473
|
|
G |
KRT7 |
keratin 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16927643 |
|
NCBI chr12:36,514,021...36,529,721
Ensembl chr12:37,291,244...37,307,341
|
|
G |
PVALB |
parvalbumin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16927643 |
|
NCBI chr22:17,715,109...17,731,587
Ensembl chr22:35,551,448...35,568,316
|
|
|
G |
RSPO1 |
R-spondin 1 |
|
ISO |
ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal |
OMIM ClinVar |
PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:36,885,176...36,907,821
Ensembl chr 1:38,231,764...38,256,903
|
|
|
G |
TGFB2 |
transforming growth factor beta 2 |
ameliorates |
ISO |
human cells in a mouse model |
RGD |
PMID:21366804 |
RGD:155630611 |
NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041
|
|
|
G |
KRAS |
KRAS proto-oncogene, GTPase |
severity |
ISO |
DNA:mutations:cds: |
RGD |
PMID:28570009 |
RGD:14398747 |
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
|
|
|
G |
KISS1R |
KISS1 receptor |
|
ISO |
|
RGD |
PMID:11994395 |
RGD:1599280 |
NCBI chr19:211,563...215,332
|
|
G |
VEGFC |
vascular endothelial growth factor C |
disease_progression |
ISO |
associated with thyroid diseases;mRNA:increased expression:thyroid gland: |
RGD |
PMID:12203051 |
RGD:7483611 |
NCBI chr 4:168,870,941...168,999,160
Ensembl chr 4:181,104,737...181,236,030
|
|
|
G |
ARAF |
A-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:24569458 PMID:26619011 |
|
NCBI chr X:39,997,026...40,007,783
Ensembl chr X:47,893,153...47,904,643
|
|
G |
BIRC3 |
baculoviral IAP repeat containing 3 |
exacerbates |
ISO |
mRNA:increased expression:kidney (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194
|
|
G |
BIRC5 |
baculoviral IAP repeat containing 5 |
disease_progression |
ISO |
mRNA:increased expression:kidney (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159
|
|
G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 |
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:16439621 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19376813 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:22876591 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:24033266 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24446311 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:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28492532 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31277584 PMID:31779674 PMID:31891627 PMID:34476331 More...
|
|
NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
|
|
G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:25741868 PMID:26619011 PMID:28492532 |
|
NCBI chr 9:21,803,862...21,831,322
|
|
G |
ERBB2 |
erb-b2 receptor tyrosine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:18413839 PMID:22046346 PMID:23220880 PMID:25157968 PMID:26619011 |
|
NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
|
|
G |
FBXW7 |
F-box and WD repeat domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:26619011 |
|
NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
|
|
G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:8589699 PMID:8845844 PMID:9438390 PMID:9843049 PMID:10471491 PMID:11038465 PMID:11429702 PMID:11879084 PMID:15772091 PMID:17384684 PMID:19088846 PMID:19331127 PMID:19381019 PMID:19749790 PMID:20301540 PMID:20542753 PMID:21273588 PMID:22869148 PMID:23200862 PMID:24419316 PMID:24476948 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28249712 PMID:28492532 PMID:29593476 PMID:30692697 PMID:31299979 More...
|
|
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
|
|
G |
HRAS |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:33372952 PMID:34008892 More...
|
|
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
|
|
G |
LRRC56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:33372952 PMID:34008892 More...
|
|
NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
|
|
G |
MET |
MET proto-oncogene, receptor tyrosine kinase |
susceptibility |
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 |
ClinVar OMIM |
PMID:1104268 PMID:9140397 PMID:9326629 PMID:9536098 PMID:9563489 PMID:9731534 PMID:9826708 PMID:10327054 PMID:10417759 PMID:10433944 PMID:11042681 PMID:11354004 PMID:11750879 PMID:11927612 PMID:12920089 PMID:14559814 PMID:15371818 PMID:15592501 PMID:15735036 PMID:16189274 PMID:16434318 PMID:17483355 PMID:17576681 PMID:18564920 PMID:19318576 PMID:19723643 PMID:20126411 PMID:20670955 PMID:20949619 PMID:21774103 PMID:21970370 PMID:22703879 PMID:23213094 PMID:23806086 PMID:24033266 PMID:24061647 PMID:24088041 PMID:24121490 PMID:24339735 PMID:24728327 PMID:25157968 PMID:25605252 PMID:25637381 PMID:25640679 PMID:25736269 PMID:25741868 PMID:25859546 PMID:26173098 PMID:26467025 PMID:26718692 PMID:26887047 PMID:27153395 PMID:27666373 PMID:28166811 PMID:28259294 PMID:28294470 PMID:28476232 PMID:28492532 PMID:28619094 PMID:28873162 PMID:29084058 PMID:29202410 PMID:29360161 PMID:29641532 PMID:29684080 PMID:30093976 PMID:30530636 PMID:32934698 PMID:33255238 More...
|
|
NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
|
|
G |
MTOR |
mechanistic target of rapamycin kinase |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:20190810 PMID:24631838 PMID:25741868 PMID:26018084 PMID:26619011 PMID:27159400 PMID:27830187 More...
|
|
NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
|
|
G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24559322 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26851524 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29446767 PMID:29661094 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34496175 PMID:37712948 More...
|
|
NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
|
|
G |
PRCC |
proline rich mitotic checkpoint control factor |
|
ISO |
|
OMIM |
|
|
NCBI chr 1:132,110,795...132,144,039
Ensembl chr 1:135,933,269...135,966,483
|
|
G |
RHEB |
Ras homolog, mTORC1 binding |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:26619011 |
|
NCBI chr 7:143,054,747...143,108,011
|
|
G |
TP53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:1565143 PMID:7887414 PMID:8023157 PMID:8118819 PMID:8242631 PMID:8401536 PMID:8633021 PMID:9242456 PMID:9627118 PMID:9662334 PMID:10432928 PMID:10589545 PMID:10922393 PMID:11139324 PMID:11668501 PMID:11782540 PMID:12826609 PMID:14559903 PMID:15037740 PMID:15977174 PMID:16312222 PMID:16818505 PMID:16861262 PMID:17015838 PMID:17308077 PMID:17390010 PMID:17606709 PMID:18307025 PMID:19101993 PMID:19367569 PMID:19556618 PMID:20028212 PMID:20128691 PMID:20234365 PMID:20308654 PMID:20407015 PMID:20593220 PMID:20805372 PMID:21056685 PMID:21118481 PMID:21343334 PMID:21356188 PMID:21483000 PMID:21514416 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22265402 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22915647 PMID:22923379 PMID:23031740 PMID:23246812 PMID:23259501 PMID:23484829 PMID:23630318 PMID:24065105 PMID:24381225 PMID:24487413 PMID:24603336 PMID:24641375 PMID:24702488 PMID:24744791 PMID:25256166 PMID:25404506 PMID:25584008 PMID:25741868 PMID:25945745 PMID:25952993 PMID:26230955 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26911350 PMID:27189670 PMID:27276561 PMID:27328919 PMID:27463065 PMID:27680515 PMID:27714481 PMID:27873457 PMID:27895058 PMID:27959731 PMID:28279309 PMID:28356770 PMID:28369373 PMID:28492532 PMID:28724667 PMID:28975465 PMID:29070607 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30327374 PMID:30730202 PMID:30816478 PMID:31105275 PMID:31300551 PMID:31775759 PMID:32475984 PMID:32817165 PMID:33087929 PMID:33300245 PMID:33471991 PMID:33674644 PMID:36988593 More...
|
|
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
|
|
G |
VHL |
von Hippel-Lindau tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic | ClinVar Annotator: match by term: Renal cell carcinoma, papillary, 1 |
ClinVar |
PMID:7660122 PMID:7728151 PMID:7784063 PMID:7987306 PMID:7987327 PMID:8270255 PMID:8522307 PMID:8592333 PMID:8730290 PMID:8956040 PMID:9156047 PMID:9452032 PMID:9829911 PMID:9829912 PMID:10567493 PMID:10900011 PMID:11921283 PMID:12000816 PMID:12114495 PMID:14722919 PMID:14767570 PMID:14973063 PMID:15300849 PMID:17102069 PMID:18446368 PMID:18836774 PMID:19270817 PMID:19464396 PMID:19574279 PMID:19602254 PMID:20120764 PMID:20660572 PMID:21362373 PMID:21463266 PMID:22799452 PMID:23512077 PMID:23842656 PMID:24206762 PMID:24301059 PMID:24707167 PMID:25119015 PMID:25157968 PMID:25563310 PMID:25720320 PMID:25741868 PMID:25867206 PMID:26822237 PMID:27527340 PMID:27539324 PMID:27617348 PMID:28492532 PMID:28944243 PMID:29616089 PMID:30042107 PMID:33720516 More...
|
|
NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234
|
|
G |
XIAP |
X-linked inhibitor of apoptosis |
exacerbates |
ISO |
mRNA:increased expression:kidney (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr X:113,052,164...113,105,160
Ensembl chr X:123,232,643...123,278,606
|
|
|
G |
CCND1 |
cyclin D1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12151359 |
|
NCBI chr11:64,737,006...64,750,353
|
|
G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:10430900 PMID:11684723 PMID:12151359 |
RGD:8662351 RGD:8662432 |
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
|
|
G |
EGFR |
epidermal growth factor receptor |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:8603490 PMID:10943841 |
RGD:734919 |
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
|
|
G |
ERBB2 |
erb-b2 receptor tyrosine kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8603490 |
|
NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
|
|
G |
HRAS |
HRas proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8330346 |
|
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
|
|
G |
MAP2K4 |
mitogen-activated protein kinase kinase 4 |
|
ISO |
|
RGD |
PMID:20610622 |
RGD:7495823 |
NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909
|
|
G |
MMP2 |
matrix metallopeptidase 2 |
treatment |
ISO |
associated with Skin Neoplasms |
RGD |
PMID:20619141 |
RGD:8657035 |
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
|
|
G |
NQO1 |
NAD(P)H quinone dehydrogenase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9496914 |
|
NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731
|
|
G |
ODC1 |
ornithine decarboxylase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17928125 |
|
NCBI chr2A:10,443,308...10,451,412
Ensembl chr2A:10,598,125...10,607,152
|
|
G |
PLA2G4A |
phospholipase A2 group IVA |
|
ISO |
associated with Bladder Neoplasms;mRNA:increased expression:bladder |
RGD |
PMID:16621493 |
RGD:1642457 |
NCBI chr 1:162,362,600...162,521,974
Ensembl chr 1:166,512,870...166,672,101
|
|
G |
PTGES |
prostaglandin E synthase |
|
ISO |
mRNA:increased expression:urinary bladder |
RGD |
PMID:16621493 |
RGD:1642457 |
NCBI chr 9:100,865,702...100,880,408
Ensembl chr 9:129,522,547...129,537,020
|
|
G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12151359 PMID:16144915 |
|
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
|
|
G |
SOD2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11507057 |
|
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
|
|
G |
TGFA |
transforming growth factor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8603490 |
|
NCBI chr2A:70,510,727...70,617,628
Ensembl chr2A:71,625,196...71,731,461
|
|
G |
TGFB1 |
transforming growth factor beta 1 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:7954410 PMID:20172950 |
RGD:7394796 |
NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
|
|
G |
TYR |
tyrosinase |
treatment |
ISO |
|
RGD |
PMID:15007389 |
RGD:8694346 |
NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138
|
|
|
G |
CASR |
calcium sensing receptor |
|
ISO |
ClinVar Annotator: match by term: Parathyroid adenoma |
ClinVar |
PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 PMID:19779033 PMID:22798347 PMID:23372019 PMID:25741868 PMID:26467025 PMID:26963950 PMID:28492532 More...
|
|
NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268
|
|
G |
CDC73 |
cell division cycle 73 |
|
ISO |
ClinVar Annotator: match by term: Parathyroid adenoma, somatic |
ClinVar |
PMID:12434154 PMID:15531515 PMID:16061557 PMID:16199547 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934
|
|
G |
HRAS |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Parathyroid adenoma |
ClinVar |
PMID:25741868 PMID:35738466 |
|
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
|
|
G |
LRRC56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Parathyroid adenoma |
ClinVar |
PMID:25741868 PMID:35738466 |
|
NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
|
|
G |
MEN1 |
menin 1 |
|
ISO |
ClinVar Annotator: match by term: Parathyroid adenoma, somatic |
ClinVar |
PMID:9241276 PMID:9820618 PMID:12016472 PMID:20231234 PMID:28492532 |
|
NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164
|
|
|
G |
LATS2 |
large tumor suppressor kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Malignant peritoneal mesothelioma |
ClinVar |
|
|
NCBI chr13:2,300,625...2,389,027
Ensembl chr13:20,611,861...20,683,083
|
|
G |
MECOM |
MDS1 and EVI1 complex locus |
|
ISO |
ClinVar Annotator: match by term: Malignant peritoneal mesothelioma |
ClinVar |
|
|
NCBI chr 3:166,099,530...166,677,739
Ensembl chr 3:174,154,814...174,731,252
|
|
G |
TRAF7 |
TNF receptor associated factor 7 |
|
ISO |
DNA:missense mutations:multiple |
RGD |
PMID:30171198 |
RGD:151356964 |
NCBI chr16:1,013,831...1,036,486
Ensembl chr16:2,266,194...2,279,031
|
|
|
G |
CLPTM1L |
CLPTM1 like |
sexual_dimorphism |
ISO |
in males;DNA:SNP: :rs401681(human) |
RGD |
PMID:31429604 |
RGD:150530637 |
Ensembl chr 5:1,361,571...1,388,415
|
|
|
G |
FLCN |
folliculin |
|
ISO |
ClinVar Annotator: match by term: Pilocytic astrocytoma |
ClinVar |
PMID:15852235 PMID:16199547 PMID:25741868 PMID:28492532 |
|
NCBI chr17:34,057,127...34,081,637
Ensembl chr17:38,988,518...39,013,160
|
|
G |
KRAS |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic |
ClinVar |
PMID:12460918 PMID:15696205 PMID:16247081 PMID:16361624 PMID:16618717 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:23406027 PMID:24033266 PMID:25157968 More...
|
|
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
|
|
G |
NF1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Pilocytic astrocytoma |
ClinVar |
PMID:10712197 PMID:23913538 PMID:25741868 PMID:28492532 |
|
NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295
|
|
G |
PALB2 |
partner and localizer of BRCA2 |
|
ISO |
ClinVar Annotator: match by term: Pilocytic astrocytoma |
ClinVar |
PMID:25741868 PMID:26283626 PMID:28492532 PMID:28664506 PMID:32546565 |
|
NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117
|
|
G |
RET |
ret proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Pilocytic astrocytoma |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331
|
|
G |
SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
|
ISO |
ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic |
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:26467025 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:32782288 PMID:33077847 PMID:33372952 PMID:33674644 PMID:33960148 PMID:35059314 PMID:35441217 More...
|
|
|
|
|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Pilomyxoid astrocytoma |
ClinVar |
PMID:25705862 PMID:25741868 PMID:26619011 PMID:26942290 PMID:28492532 PMID:33448156 More...
|
|
NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904
|
|
|
G |
AVPR1B |
arginine vasopressin receptor 1B |
|
ISO |
|
RGD |
PMID:28692683 |
RGD:14700668 |
NCBI chr 1:181,713,548...181,723,645
Ensembl chr 1:185,999,627...186,007,043
|
|
G |
CDKN1B |
cyclin dependent kinase inhibitor 1B |
|
ISO |
|
RGD |
PMID:12036912 |
RGD:619590 |
NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541
|
|
G |
GRK2 |
G protein-coupled receptor kinase 2 |
|
ISO |
mRNA:altered expression:pituitary gland (human) |
RGD |
PMID:24169548 |
RGD:13792706 |
NCBI chr11:62,624,647...62,644,846
Ensembl chr11:65,939,164...65,959,066
|
|
|
G |
AIP |
aryl hydrocarbon receptor interacting protein |
|
ISO |
ClinVar Annotator: match by term: PITUITARY ADENOMA 1, MULTIPLE TYPES |
OMIM ClinVar |
PMID:16728643 PMID:17341560 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 PMID:34588620 More...
|
|
NCBI chr11:62,841,377...62,849,664
Ensembl chr11:66,152,670...66,160,898
|
|
|
G |
GNAS |
GNAS complex locus |
|
ISO |
ClinVar Annotator: match by term: Pituitary adenoma 3, multiple types |
OMIM ClinVar |
PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7737262 PMID:7739708 PMID:8702665 PMID:8766942 PMID:9626141 PMID:9876352 PMID:11092390 PMID:11093740 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:12727968 PMID:12970318 PMID:15126527 PMID:15711092 PMID:15952988 PMID:16507630 PMID:16543670 PMID:17493233 PMID:17873334 PMID:18553568 PMID:18796523 PMID:20197676 PMID:20427508 PMID:21525160 PMID:21835143 PMID:23281139 PMID:23403822 PMID:23533243 PMID:23536913 PMID:23796510 PMID:23843956 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24728327 PMID:24855271 PMID:25044890 PMID:25157968 PMID:25219572 PMID:25719192 PMID:25741868 PMID:25802881 PMID:26619011 PMID:26633545 PMID:27398169 PMID:27506760 PMID:27703483 PMID:28492532 PMID:29059381 PMID:29072892 PMID:30349702 PMID:30674755 PMID:30702195 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 More...
|
|
NCBI chr20:55,190,607...55,262,245
|
|
|
G |
AIP |
aryl hydrocarbon receptor interacting protein |
|
ISO |
ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr11:62,841,377...62,849,664
Ensembl chr11:66,152,670...66,160,898
|
|
G |
C8H10orf105 |
chromosome 8 C10orf105 homolog |
|
ISO |
ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types |
ClinVar |
PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:16199547 PMID:18273900 PMID:19683999 PMID:21228398 PMID:21940737 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:26467025 PMID:27957503 PMID:28413019 PMID:28492532 PMID:28944237 PMID:35020051 More...
|
|
NCBI chr10:68,182,453...68,190,718
|
|
G |
LOC100983880 |
cadherin-23 |
|
ISO |
ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types |
OMIM ClinVar |
PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:12522556 PMID:15353998 PMID:15537665 PMID:15660226 PMID:16199547 PMID:16281288 PMID:16679490 PMID:16963483 PMID:17407589 PMID:17576681 PMID:17850630 PMID:18273900 PMID:18323324 PMID:18368581 PMID:18429043 PMID:18484607 PMID:19683999 PMID:20146813 PMID:20513143 PMID:20613545 PMID:21174530 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21738395 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22899989 PMID:22995991 PMID:23451239 PMID:23591405 PMID:23757202 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24164807 PMID:24416283 PMID:24498627 PMID:24618850 PMID:24767429 PMID:24875298 PMID:25211151 PMID:25231367 PMID:25279224 PMID:25333064 PMID:25356970 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25525159 PMID:25587757 PMID:25605338 PMID:25741868 PMID:25788563 PMID:25963016 PMID:26226137 PMID:26264712 PMID:26346818 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26763877 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27208204 PMID:27349180 PMID:27460420 PMID:27583405 PMID:27583663 PMID:27627659 PMID:27743452 PMID:27792758 PMID:27884173 PMID:27957503 PMID:28383030 PMID:28413019 PMID:28483220 PMID:28492532 PMID:28501645 PMID:28847902 PMID:28944237 PMID:29048421 PMID:29148562 PMID:29287849 PMID:29889784 PMID:29986705 PMID:30029624 PMID:30033219 PMID:30123251 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30367262 PMID:30459346 PMID:30622556 PMID:30718709 PMID:30828794 PMID:31054281 PMID:31152317 PMID:31231422 PMID:31445392 PMID:31541171 PMID:31546658 PMID:31589614 PMID:31755791 PMID:31850270 PMID:31872526 PMID:32141364 PMID:32467589 PMID:32485727 PMID:32645618 PMID:32747562 PMID:32860223 PMID:32991204 PMID:33095980 PMID:33111992 PMID:33576794 PMID:34416374 PMID:34824372 PMID:34837038 PMID:35020051 PMID:35186827 PMID:35440622 PMID:35802133 PMID:36011334 PMID:36460718 PMID:36633841 PMID:36672845 More...
|
|
NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240
|
|
G |
MEN1 |
menin 1 |
|
ISO |
ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164
|
|
G |
VSIR |
V-set immunoregulatory receptor |
|
ISO |
ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types |
ClinVar |
PMID:25741868 |
|
NCBI chr10:68,218,230...68,243,687
Ensembl chr10:70,742,062...70,767,613
|
|
|
G |
PLAG1 |
PLAG1 zinc finger |
|
ISO |
|
OMIM |
|
|
NCBI chr 8:52,607,398...52,657,808
Ensembl chr 8:49,983,627...50,028,591
|
|
|
G |
AASS |
aminoadipate-semialdehyde synthase |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:114,084,792...114,155,558
Ensembl chr 7:126,769,655...126,840,346
|
|
G |
ABCA13 |
ATP binding cassette subfamily A member 13 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:48,812,624...49,288,605
Ensembl chr 7:48,920,381...49,393,235
|
|
G |
ABCB1 |
ATP binding cassette subfamily B member 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238
|
|
G |
ABCB4 |
ATP binding cassette subfamily B member 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439
|
|
G |
ABCB5 |
ATP binding cassette subfamily B member 5 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:21,302,954...21,432,569
Ensembl chr 7:20,620,875...20,746,634
|
|
G |
ABHD11 |
abhydrolase domain containing 11 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:80,889,063...80,891,826
|
|
G |
ACHE |
acetylcholinesterase (Yt blood group) |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,915,065...92,922,079
Ensembl chr 7:106,311,944...106,318,184
|
|
G |
ACTL6B |
actin like 6B |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,670,166...92,683,571
Ensembl chr 7:106,070,839...106,083,646
|
|
G |
ADAM22 |
ADAM metallopeptidase domain 22 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:79,930,613...80,197,498
Ensembl chr 7:93,579,306...93,840,484
|
|
G |
ADCK2 |
aarF domain containing kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:132,605,620...132,627,786
Ensembl chr 7:145,078,335...145,100,739
|
|
G |
ADCY1 |
adenylate cyclase 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:46,289,042...46,436,839
Ensembl chr 7:46,354,640...46,492,549
|
|
G |
ADCYAP1R1 |
ADCYAP receptor type I |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:31,597,251...31,724,299
Ensembl chr 7:31,784,622...31,843,381
|
|
G |
AEBP1 |
AE binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:44,818,620...44,828,914
Ensembl chr 7:44,886,238...44,896,194
|
|
G |
AGBL3 |
AGBL carboxypeptidase 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:126,951,316...127,100,608
|
|
G |
AGFG2 |
ArfGAP with FG repeats 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,566,281...92,595,374
Ensembl chr 7:105,967,731...105,997,467
|
|
G |
AGMO |
alkylglycerol monooxygenase |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:15,863,957...16,219,070
Ensembl chr 7:15,180,426...15,549,016
|
|
G |
AGR2 |
anterior gradient 2, protein disulphide isomerase family member |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:17,446,275...17,489,802
Ensembl chr 7:16,773,281...16,785,879
|
|
G |
AGR3 |
anterior gradient 3, protein disulphide isomerase family member |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:17,515,172...17,542,041
Ensembl chr 7:16,839,790...16,864,274
|
|
G |
AHCYL2 |
adenosylhomocysteinase like 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:121,180,259...121,387,972
Ensembl chr 7:133,704,551...133,909,907
|
|
G |
AHR |
aryl hydrocarbon receptor |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:17,949,254...17,998,737
Ensembl chr 7:17,278,637...17,326,171
|
|
G |
AKAP9 |
A-kinase anchoring protein 9 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608
|
|
G |
AKR1B1 |
aldo-keto reductase family 1 member B |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:126,400,861...126,417,756
Ensembl chr 7:138,912,953...138,924,095
|
|
G |
AKR1B10 |
aldo-keto reductase family 1 member B10 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:126,486,012...126,499,852
Ensembl chr 7:138,992,835...139,006,003
|
|
G |
AKR1D1 |
aldo-keto reductase family 1 member D1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:130,023,017...130,076,397
Ensembl chr 7:142,525,467...142,571,331
|
|
G |
ALKBH4 |
alkB homolog 4, lysine demethylase |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:94,596,641...94,605,369
|
|
G |
ANKIB1 |
ankyrin repeat and IBR domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:84,243,929...84,399,358
Ensembl chr 7:97,841,233...97,995,816
|
|
G |
ANKMY2 |
ankyrin repeat and MYND domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:17,255,793...17,301,997
Ensembl chr 7:16,581,308...16,628,359
|
|
G |
ANKRD7 |
ankyrin repeat domain 7 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:110,189,898...110,209,035
Ensembl chr 7:122,885,689...122,903,383
|
|
G |
ANLN |
anillin, actin binding protein |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:37,011,518...37,075,349
Ensembl chr 7:37,243,917...37,304,137
|
|
G |
AOAH |
acyloxyacyl hydrolase |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:37,138,486...37,362,655
Ensembl chr 7:37,363,741...37,589,358
|
|
G |
AP1S1 |
adaptor related protein complex 1 subunit sigma 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:93,294,826...93,301,202
Ensembl chr 7:106,536,452...106,543,316
|
|
G |
AP4M1 |
adaptor related protein complex 4 subunit mu 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,137,085...92,142,756
Ensembl chr 7:105,570,205...105,575,971
|
|
G |
AQP1 |
aquaporin 1 (Colton blood group) |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:31,524,933...31,538,602
Ensembl chr 7:31,644,331...31,658,141
|
|
G |
ARF5 |
ADP ribosylation factor 5 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:119,583,955...119,587,272
Ensembl chr 7:132,239,114...132,242,323
|
|
G |
ARL4A |
ADP ribosylation factor like GTPase 4A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
|
|
G |
ARMC10 |
armadillo repeat containing 10 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:95,049,105...95,073,466
Ensembl chr 7:107,899,776...107,922,685
|
|
G |
ARPC1A |
actin related protein 2/3 complex subunit 1A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:91,299,559...91,339,729
Ensembl chr 7:104,801,399...104,841,590
|
|
G |
ARPC1B |
actin related protein 2/3 complex subunit 1B |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:91,348,120...91,368,299
Ensembl chr 7:104,861,582...104,870,369
|
|
G |
ASB15 |
ankyrin repeat and SOCS box containing 15 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:115,595,751...115,631,803
Ensembl chr 7:128,285,366...128,314,610
|
|
G |
ASB4 |
ankyrin repeat and SOCS box containing 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:87,443,445...87,497,640
Ensembl chr 7:101,030,584...101,085,009
|
|
G |
ASL |
argininosuccinate lyase |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:59,908,648...59,948,822
Ensembl chr 7:73,142,842...73,157,472 Ensembl chr 7:73,142,842...73,157,472 Ensembl chr 7:73,142,842...73,157,472
|
|
G |
ASNS |
asparagine synthetase (glutamine-hydrolyzing) |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:89,811,363...89,831,733
Ensembl chr 7:103,392,540...103,413,046
|
|
G |
ASZ1 |
ankyrin repeat, SAM and basic leucine zipper domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:109,330,983...109,397,864
Ensembl chr 7:122,025,611...122,091,923
|
|
G |
ATP5MF |
ATP synthase membrane subunit f |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:91,431,277...91,439,423
Ensembl chr 7:104,933,594...104,941,921
|
|
G |
ATP6V0A4 |
ATPase H+ transporting V0 subunit a4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:130,665,997...130,758,537
Ensembl chr 7:143,154,712...143,218,802
|
|
G |
ATP6V1F |
ATPase H+ transporting V1 subunit F |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:120,814,560...120,817,612
Ensembl chr 7:133,339,284...133,342,423
|
|
G |
ATXN7L1 |
ataxin 7 like 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:97,594,803...97,861,463
Ensembl chr 7:110,327,942...110,590,021
|
|
G |
AUTS2 |
activator of transcription and developmental regulator AUTS2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:64,822,964...66,015,831
Ensembl chr 7:77,495,909...78,686,763
|
|
G |
AVL9 |
AVL9 cell migration associated |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:33,104,760...33,194,941
|
|
G |
BAIAP2L1 |
BAR/IMD domain containing adaptor protein 2 like 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:6,158,306...6,230,903
Ensembl chr 7:103,758,479...103,828,874
|
|
G |
BAZ1B |
bromodomain adjacent to zinc finger domain 1B |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:80,594,626...80,675,709
|
|
G |
BBS9 |
Bardet-Biedl syndrome 9 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:33,723,923...34,210,408
Ensembl chr 7:34,141,841...34,603,231
|
|
G |
BCAP29 |
B cell receptor associated protein 29 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:99,559,131...99,602,058
Ensembl chr 7:112,283,078...112,322,422
|
|
G |
BCL7B |
BAF chromatin remodeling complex subunit BCL7B |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
|
|
G |
BET1 |
Bet1 golgi vesicular membrane trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:85,947,997...85,959,151
Ensembl chr 7:99,539,001...99,550,125
|
|
G |
BHLHA15 |
basic helix-loop-helix family member a15 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:6,306,929...6,311,026
Ensembl chr 7:103,677,022...103,677,593
|
|
G |
BLVRA |
biliverdin reductase A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:40,444,095...40,492,972
Ensembl chr 7:40,489,360...40,526,132
|
|
G |
BMPER |
BMP binding endothelial regulator |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:34,508,583...34,759,860
Ensembl chr 7:34,903,178...35,152,110
|
|
G |
BMT2 |
base methyltransferase of 25S rRNA 2 homolog |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:104,786,390...104,905,357
Ensembl chr 7:117,488,026...117,607,033
|
|
G |
BPGM |
bisphosphoglycerate mutase |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:126,605,151...126,637,934
Ensembl chr 7:139,123,318...139,144,487
|
|
G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
onset |
ISO |
DNA:mutation:cds:p.V600E(human) ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
RGD ClinVar |
PMID:25346165 PMID:28299358 |
RGD:11567238 |
NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
|
|
G |
BRI3 |
brain protein I3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:6,231,026...6,240,581
|
|
G |
BUD23 |
BUD23 rRNA methyltransferase and ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:80,836,518...80,851,497
|
|
G |
BUD31 |
BUD31 homolog |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:91,382,353...91,393,112
Ensembl chr 7:104,884,088...104,894,865
|
|
G |
BZW2 |
basic leucine zipper and W2 domains 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:17,302,322...17,362,737
Ensembl chr 7:16,628,679...16,688,982
|
|
G |
C6H7orf25 |
chromosome 6 C7orf25 homolog |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:41,324,323...41,328,636
Ensembl chr 7:41,368,665...41,371,626
|
|
G |
C6H7orf57 |
chromosome 6 C7orf57 homolog |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:48,677,343...48,702,592
Ensembl chr 7:48,791,961...48,810,744
|
|
G |
CACNA2D1 |
calcium voltage-gated channel auxiliary subunit alpha2delta 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:73,917,439...74,410,627
Ensembl chr 7:87,579,004...88,068,482
|
|
G |
CADPS2 |
calcium dependent secretion activator 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:114,328,933...114,896,388
Ensembl chr 7:127,014,772...127,579,249
|
|
G |
CALCR |
calcitonin receptor |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:85,382,167...85,532,562
Ensembl chr 7:98,975,906...99,047,162
|
|
G |
CALD1 |
caldesmon 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:126,743,466...126,935,412
Ensembl chr 7:139,337,692...139,440,643
|
|
G |
CALN1 |
calneuron 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:79,667,347...80,280,077
|
|
G |
CALU |
calumenin |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:120,691,092...120,723,303
Ensembl chr 7:133,223,269...133,247,167
|
|
G |
CAMK2B |
calcium/calmodulin dependent protein kinase II beta |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:44,930,859...45,040,078
Ensembl chr 7:45,001,267...45,110,342
|
|
G |
CAPZA2 |
capping actin protein of muscle Z-line subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:108,835,083...108,889,112
Ensembl chr 7:121,551,401...121,584,566
|
|
G |
CASD1 |
CAS1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:86,459,449...86,520,559
Ensembl chr 7:100,053,248...100,096,887
|
|
G |
CASTOR2 |
cytosolic arginine sensor for mTORC1 subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:82,068,521...82,075,387
|
|
G |
CAV1 |
caveolin 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
|
|
G |
CAV2 |
caveolin 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:108,254,074...108,480,716
Ensembl chr 7:121,168,579...121,177,415
|
|
G |
CBLL1 |
Cbl proto-oncogene like 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:99,725,818...99,743,915
Ensembl chr 7:112,448,102...112,467,062
|
|
G |
CBX3 |
chromobox 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:26,847,247...26,859,339
Ensembl chr 7:26,450,411...26,462,350
|
|
G |
CCDC126 |
coiled-coil domain containing 126 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:24,278,808...24,323,605
Ensembl chr 7:23,884,546...23,927,778
|
|
G |
CCDC136 |
coiled-coil domain containing 136 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:120,743,177...120,774,401
Ensembl chr 7:133,267,217...133,298,936
|
|
G |
CCDC146 |
coiled-coil domain containing 146 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:68,965,404...69,215,833
Ensembl chr 7:82,900,402...83,027,578
|
|
G |
CCDC71L |
coiled-coil domain containing 71 like |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:98,630,275...98,634,657
|
|
G |
CCL24 |
C-C motif chemokine ligand 24 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:68,206,688...68,210,343
Ensembl chr 7:82,263,310...82,265,480
|
|
G |
CCL26 |
C-C motif chemokine ligand 26 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:68,230,804...68,251,369
Ensembl chr 7:82,221,846...82,242,874
|
|
G |
CCM2 |
CCM2 scaffold protein |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828
|
|
G |
CCT6A |
chaperonin containing TCP1 subunit 6A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:56,664,757...56,677,000
Ensembl chr 7:57,087,072...57,098,613
|
|
G |
CD36 |
CD36 molecule (CD36 blood group) |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
|
|
G |
CDCA7L |
cell division cycle associated 7 like |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:22,501,225...22,632,357
Ensembl chr 7:21,897,798...21,944,329
|
|
G |
CDHR3 |
cadherin related family member 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:97,939,965...98,021,172
Ensembl chr 7:110,687,853...110,745,227
|
|
G |
CDK13 |
cyclin dependent kinase 13 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:44,138,345...44,285,606
Ensembl chr 7:44,177,204...44,324,683
|
|
G |
CDK14 |
cyclin dependent kinase 14 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:82,609,791...83,216,851
Ensembl chr 7:96,211,305...96,731,767
|
|
G |
CDK6 |
cyclin dependent kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:84,603,419...84,835,082
|
|
G |
CEP41 |
centrosomal protein 41 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:122,360,248...122,406,260
Ensembl chr 7:134,880,086...134,924,657
|
|
G |
CFAP69 |
cilia and flagella associated protein 69 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:82,254,266...82,353,873
Ensembl chr 7:95,856,393...95,922,012
|
|
G |
CFTR |
CF transmembrane conductance regulator |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864
|
|
G |
CHCHD2 |
coiled-coil-helix-coiled-coil-helix domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:56,714,583...56,719,640
Ensembl chr 7:57,134,303...57,141,765
|
|
G |
CHCHD3 |
coiled-coil-helix-coiled-coil-helix domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:124,758,547...125,056,898
|
|
G |
CHRM2 |
cholinergic receptor muscarinic 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:128,827,089...128,978,496
Ensembl chr 7:141,466,396...141,467,796
|
|
G |
CLDN12 |
claudin 12 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:82,417,687...82,430,167
|
|
G |
CLDN15 |
claudin 15 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:93,373,450...93,380,912
Ensembl chr 7:106,613,604...106,620,479
|
|
G |
CLDN3 |
claudin 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:80,924,731...80,925,393
|
|
G |
CLDN4 |
claudin 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:80,983,832...80,984,461
|
|
G |
CLEC2L |
C-type lectin domain family 2 member L |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:131,468,864...131,490,171
Ensembl chr 7:143,953,455...143,973,570
|
|
G |
CLIP2 |
CAP-Gly domain containing linker protein 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:81,465,901...81,550,422
|
|
G |
CNOT4 |
CCR4-NOT transcription complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:127,327,092...127,475,213
Ensembl chr 7:139,828,828...139,905,285
|
|
G |
CNPY4 |
canopy FGF signaling regulator 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,154,844...92,162,151
Ensembl chr 7:105,588,007...105,593,864
|
|
G |
COBL |
cordon-bleu WH2 repeat protein |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:51,652,318...51,952,256
Ensembl chr 7:51,895,807...52,097,841
|
|
G |
COG5 |
component of oligomeric golgi complex 5 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:99,180,197...99,543,437
Ensembl chr 7:111,934,557...112,266,513
|
|
G |
COL1A2 |
collagen type I alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
|
|
G |
COL26A1 |
collagen type XXVI alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:93,500,218...93,696,147
Ensembl chr 7:106,793,555...106,931,470
|
|
G |
COPG2 |
COPI coat complex subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:122,470,494...122,633,223
Ensembl chr 7:134,988,505...135,149,512
|
|
G |
COPS6 |
COP9 signalosome subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,124,166...92,127,165
Ensembl chr 7:105,557,778...105,560,998
|
|
G |
CPA1 |
carboxypeptidase A1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:122,335,250...122,353,369
Ensembl chr 7:134,861,920...134,871,834
|
|
G |
CPA2 |
carboxypeptidase A2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:122,203,510...122,256,180
Ensembl chr 7:134,750,878...134,773,437
|
|
G |
CPA4 |
carboxypeptidase A4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:122,266,946...122,289,742
Ensembl chr 7:134,776,768...134,807,678
|
|
G |
CPA5 |
carboxypeptidase A5 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:122,310,070...122,333,946
Ensembl chr 7:134,828,605...134,852,487
|
|
G |
CPED1 |
cadherin like and PC-esterase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:112,997,867...113,240,213
Ensembl chr 7:125,685,423...125,996,060
|
|
G |
CPSF4 |
cleavage and polyadenylation specific factor 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:91,412,008...91,430,452
Ensembl chr 7:104,914,077...104,932,769
|
|
G |
CPVL |
carboxypeptidase vitellogenic like |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:29,637,320...29,824,278
Ensembl chr 7:29,228,331...29,385,882
|
|
G |
CRCP |
CGRP receptor component |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
|
|
G |
CREB3L2 |
cAMP responsive element binding protein 3 like 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:129,833,446...129,960,145
Ensembl chr 7:142,331,759...142,452,438
|
|
G |
CREB5 |
cAMP responsive element binding protein 5 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:29,054,505...29,470,528
Ensembl chr 7:28,727,385...29,057,973
|
|
G |
CRHR2 |
corticotropin releasing hormone receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:31,265,619...31,313,902
Ensembl chr 7:31,386,026...31,434,220
|
|
G |
CROT |
carnitine O-octanoyltransferase |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:79,339,498...79,393,676
Ensembl chr 7:92,989,868...93,043,832
|
|
G |
CRPPA |
CDP-L-ribitol pyrophosphorylase A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220
|
|
G |
CTTNBP2 |
cortactin binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:109,675,275...109,837,178
Ensembl chr 7:122,370,616...122,520,397
|
|
G |
CUX1 |
cut like homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:93,954,599...94,432,697
Ensembl chr 7:107,191,124...107,609,940
|
|
G |
CYP3A4 |
cytochrome P450 family 3 subfamily A member 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:91,797,037...91,824,696
Ensembl chr 7:105,230,666...105,258,401
|
|
G |
CYP3A43 |
cytochrome P450 family 3 subfamily A member 43 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:91,862,437...91,903,033
Ensembl chr 7:105,296,111...105,335,958
|
|
G |
CYP3A5 |
cytochrome P450 family 3 subfamily A member 5 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:91,621,561...91,654,164
Ensembl chr 7:105,123,437...105,155,322
|
|
G |
CYP51A1 |
cytochrome P450 family 51 subfamily A member 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:84,110,130...84,132,870
Ensembl chr 7:97,708,806...97,729,824
|
|
G |
CYREN |
cell cycle regulator of NHEJ |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:127,130,587...127,148,824
|
|
G |
DBF4 |
DBF4-CDC7 kinase regulatory subunit |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:79,872,955...79,904,778
Ensembl chr 7:93,521,856...93,552,920
|
|
G |
DBNL |
drebrin like |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:44,753,062...44,775,717
Ensembl chr 7:44,824,608...44,845,891
|
|
G |
DDC |
dopa decarboxylase |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:51,101,169...51,206,031
Ensembl chr 7:51,345,228...51,449,710
|
|
G |
DDX56 |
DEAD-box helicase 56 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:45,280,188...45,289,476
Ensembl chr 7:45,349,800...45,357,694
|
|
G |
DENND2A |
DENN domain containing 2A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:132,452,770...132,573,674
Ensembl chr 7:144,926,749...145,012,748
|
|
G |
DGKB |
diacylglycerol kinase beta |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:14,803,023...15,638,280
Ensembl chr 7:14,165,933...14,969,825
|
|
G |
DGKI |
diacylglycerol kinase iota |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:129,339,330...129,812,443
Ensembl chr 7:141,841,852...142,142,310
|
|
G |
DLD |
dihydrolipoamide dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629
|
|
G |
DLX5 |
distal-less homeobox 5 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:88,972,066...88,977,588
Ensembl chr 7:102,555,267...102,561,186
|
|
G |
DLX6 |
distal-less homeobox 6 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:88,957,570...88,962,703
|
|
G |
DMTF1 |
cyclin D binding myb like transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:79,135,090...79,178,980
Ensembl chr 7:92,792,934...92,836,607
|
|
G |
DNAH11 |
dynein axonemal heavy chain 11 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:22,228,345...22,585,681
Ensembl chr 7:21,540,932...21,897,485
|
|
G |
DNAJB9 |
DnaJ heat shock protein family (Hsp40) member B9 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:100,555,527...100,560,052
Ensembl chr 7:113,274,015...113,279,105
|
|
G |
DNAJC2 |
DnaJ heat shock protein family (Hsp40) member C2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:95,303,823...95,336,085
Ensembl chr 7:108,048,307...108,080,127
|
|
G |
DNAJC30 |
DnaJ heat shock protein family (Hsp40) member C30 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:80,835,722...80,836,402
|
|
G |
DOCK4 |
dedicator of cytokinesis 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:103,697,418...104,169,469
Ensembl chr 7:116,400,535...116,871,755
|
|
G |
DPY19L1 |
dpy-19 like C-mannosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:35,544,932...35,653,628
Ensembl chr 7:35,937,045...36,024,129
|
|
G |
DTX2 |
deltex E3 ubiquitin ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:67,509,102...67,537,030
|
|
G |
DUS4L |
dihydrouridine synthase 4 like |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:99,542,894...99,557,478
Ensembl chr 7:112,266,481...112,280,968
|
|
G |
DYNC1I1 |
dynein cytoplasmic 1 intermediate chain 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:87,724,604...88,050,624
Ensembl chr 7:101,344,053...101,648,607
|
|
G |
EEPD1 |
endonuclease/exonuclease/phosphatase family domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:36,780,705...36,923,248
Ensembl chr 7:37,012,129...37,153,307
|
|
G |
EGFR |
epidermal growth factor receptor |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
|
|
G |
EIF4H |
eukaryotic translation initiation factor 4H |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:81,336,947...81,348,585
|
|
G |
ELAPOR2 |
endosome-lysosome associated apoptosis and autophagy regulator family member 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:78,805,691...79,037,315
Ensembl chr 7:92,516,062...92,602,812
|
|
G |
ELMO1 |
engulfment and cell motility 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:37,493,854...38,085,555
|
|
G |
ELN |
elastin |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
|
|
G |
EPDR1 |
ependymin related 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:38,556,734...38,588,059
|
|
G |
EPHB4 |
EPH receptor B4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022
|
|
G |
EPO |
erythropoietin |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
|
|
G |
ERV3-1 |
endogenous retrovirus group 3 member 1, envelope |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
|
|
G |
ERVW-1 |
endogenous retrovirus group W member 1, envelope |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:84,466,326...84,475,866
|
|
G |
ETV1 |
ETS variant transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:14,569,239...14,665,713
Ensembl chr 7:13,909,487...14,004,808
|
|
G |
EVX1 |
even-skipped homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:27,887,145...27,892,267
Ensembl chr 7:27,486,329...27,491,245
|
|
G |
EXOC4 |
exocyst complex component 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:125,226,107...126,030,486
Ensembl chr 7:137,734,400...138,536,214
|
|
G |
FAM133B |
family with sequence similarity 133 member B |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:84,559,264...84,589,085
Ensembl chr 7:98,156,201...98,184,114
|
|
G |
FAM180A |
family with sequence similarity 180 member A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:127,701,469...127,721,048
Ensembl chr 7:140,202,736...140,217,950
|
|
G |
FAM185A |
family with sequence similarity 185 member A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:94,718,345...94,779,044
|
|
G |
FAM200A |
family with sequence similarity 200 member A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:91,514,018...91,532,868
Ensembl chr 7:105,021,687...105,023,408
|
|
G |
FAM221A |
family with sequence similarity 221 member A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:24,358,166...24,380,674
Ensembl chr 7:23,962,255...23,984,593
|
|
G |
FAM3C |
FAM3 metabolism regulating signaling molecule C |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:113,361,718...113,409,292
Ensembl chr 7:126,048,752...126,096,440
|
|
G |
FBXL13 |
F-box and leucine rich repeat protein 13 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:94,783,166...95,049,017
Ensembl chr 7:107,635,624...107,898,958
|
|
G |
FBXO24 |
F-box protein 24 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,613,416...92,628,289
Ensembl chr 7:106,015,253...106,029,599
|
|
G |
FERD3L |
Fer3 like bHLH transcription factor |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:19,792,423...19,794,919
Ensembl chr 7:19,116,192...19,116,689
|
|
G |
FEZF1 |
FEZ family zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:114,311,563...114,322,490
Ensembl chr 7:126,995,708...127,005,732
|
|
G |
FGL2 |
fibrinogen like 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:69,114,082...69,120,575
Ensembl chr 7:82,926,266...82,932,550
|
|
G |
FIGNL1 |
fidgetin like 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:51,080,052...51,093,694
|
|
G |
FIS1 |
fission, mitochondrial 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:93,381,058...93,386,483
Ensembl chr 7:106,621,211...106,626,683
|
|
G |
FKBP14 |
FKBP prolyl isomerase 14 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:30,641,413...30,656,507
Ensembl chr 7:30,758,165...30,772,640
|
|
G |
FKBP6 |
FKBP prolyl isomerase family member 6 (inactive) |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:80,481,443...80,511,813
|
|
G |
FKBP9 |
FKBP prolyl isomerase 9 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:33,553,683...33,601,535
Ensembl chr 7:33,955,369...34,002,615
|
|
G |
FLNC |
filamin C |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:120,782,584...120,811,504
Ensembl chr 7:133,307,041...133,335,896
|
|
G |
FMC1 |
formation of mitochondrial complex V assembly factor 1 homolog |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:131,289,119...131,295,330
|
|
G |
FOXP2 |
forkhead box P2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:106,040,118...106,648,741
Ensembl chr 7:119,077,332...119,343,893
|
|
G |
FSCN3 |
fascin actin-bundling protein 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:119,589,219...119,597,360
Ensembl chr 7:132,244,268...132,250,913
|
|
G |
FZD1 |
frizzled class receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:83,269,906...83,277,608
|
|
G |
FZD9 |
frizzled class receptor 9 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:80,588,167...80,590,337
|
|
G |
GAL3ST4 |
galactose-3-O-sulfotransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,194,003...92,203,853
Ensembl chr 7:105,626,713...105,636,202
|
|
G |
GALNT17 |
polypeptide N-acetylgalactosaminyltransferase 17 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:66,355,754...66,937,769
Ensembl chr 7:79,027,531...79,587,744
|
|
G |
GARIN1A |
golgi associated RAB2 interactor 1A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:120,623,601...120,640,187
Ensembl chr 7:133,148,605...133,159,626
|
|
G |
GARIN1B |
golgi associated RAB2 interactor 1B |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:120,649,308...120,684,035
|
|
G |
GARS1 |
glycyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:31,208,351...31,247,841
Ensembl chr 7:31,329,456...31,368,582
|
|
G |
GATAD1 |
GATA zinc finger domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:84,445,039...84,456,781
|
|
G |
GCC1 |
GRIP and coiled-coil domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:119,575,802...119,581,401
Ensembl chr 7:132,231,077...132,236,053
|
|
G |
GCK |
glucokinase |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751
|
|
G |
GGCT |
gamma-glutamylcyclotransferase |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:31,125,964...31,134,330
Ensembl chr 7:31,247,760...31,255,903
|
|
G |
GHRHR |
growth hormone releasing hormone receptor |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:31,582,134...31,592,914
Ensembl chr 7:31,696,914...31,712,200
|
|
G |
GIGYF1 |
GRB10 interacting GYF protein 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,706,546...92,721,574
Ensembl chr 7:106,105,660...106,117,844
|
|
G |
GJC3 |
gap junction protein gamma 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:91,956,757...91,963,417
Ensembl chr 7:105,390,567...105,396,643
|
|
G |
GLI3 |
GLI family zinc finger 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:42,004,965...42,280,772
Ensembl chr 7:42,056,565...42,322,865
|
|
G |
GNAI1 |
G protein subunit alpha i1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:72,102,937...72,188,124
Ensembl chr 7:85,812,249...85,851,283
|
|
G |
GNAT3 |
G protein subunit alpha transducin 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:72,422,660...72,476,887
Ensembl chr 7:86,085,465...86,139,227
|
|
G |
GNB2 |
G protein subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,700,807...92,706,211
Ensembl chr 7:106,104,339...106,107,270
|
|
G |
GNG11 |
G protein subunit gamma 11 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:85,870,321...85,875,309
Ensembl chr 7:99,461,797...99,466,632
|
|
G |
GNGT1 |
G protein subunit gamma transducin 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:85,839,639...85,859,844
Ensembl chr 7:99,446,623...99,451,185
|
|
G |
GPC2 |
glypican 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,204,355...92,213,750
Ensembl chr 7:105,637,682...105,644,888
|
|
G |
GPNMB |
glycoprotein nmb |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:23,931,220...23,959,687
Ensembl chr 7:23,539,928...23,568,624
|
|
G |
GPR22 |
G protein-coupled receptor 22 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:99,448,716...99,457,221
Ensembl chr 7:112,176,800...112,178,101
|
|
G |
GPR37 |
G protein-coupled receptor 37 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:116,727,912...116,751,647
Ensembl chr 7:129,410,458...129,430,292
|
|
G |
GPR85 |
G protein-coupled receptor 85 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:105,044,520...105,053,488
|
|
G |
GRB10 |
growth factor receptor bound protein 10 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:51,230,945...51,434,560
Ensembl chr 7:51,474,166...51,666,638
|
|
G |
GRM3 |
glutamate metabotropic receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:78,621,634...78,842,532
Ensembl chr 7:92,400,728...92,500,553
|
|
G |
GRM8 |
glutamate metabotropic receptor 8 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:118,430,086...119,249,147
|
|
G |
GSAP |
gamma-secretase activating protein |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:69,231,374...69,340,215
Ensembl chr 7:83,043,730...83,146,026
|
|
G |
GSDME |
gasdermin E |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:25,373,485...25,433,001
Ensembl chr 7:24,977,838...25,039,525
|
|
G |
GTF2I |
general transcription factor IIi |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:81,831,442...81,901,926
|
|
G |
GTF2IRD1 |
GTF2I repeat domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:81,653,515...81,748,951
|
|
G |
GTF2IRD2 |
GTF2I repeat domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
|
|
G |
GUSB |
glucuronidase beta |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:60,087,130...60,109,289
Ensembl chr 7:64,724,841...64,744,909
|
|
G |
HBP1 |
HMG-box transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:99,147,813...99,181,335
Ensembl chr 7:111,873,874...111,906,437
|
|
G |
HDAC9 |
histone deacetylase 9 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:18,740,580...19,653,615
Ensembl chr 7:18,138,761...18,970,717
|
|
G |
HECW1 |
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:40,678,651...41,124,073
Ensembl chr 7:40,726,603...41,038,005
|
|
G |
HEPACAM2 |
HEPACAM family member 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:85,145,026...85,183,278
|
|
G |
HERPUD2 |
HERPUD family member 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:36,259,315...36,321,705
Ensembl chr 7:36,494,153...36,556,481
|
|
G |
HGF |
hepatocyte growth factor |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
|
|
G |
HIBADH |
3-hydroxyisobutyrate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:28,166,127...28,299,845
Ensembl chr 7:27,763,021...27,896,598
|
|
G |
HILPDA |
hypoxia inducible lipid droplet associated |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:120,446,572...120,449,174
Ensembl chr 7:133,100,523...133,100,714
|
|
G |
HIP1 |
huntingtin interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:68,281,899...68,464,233
|
|
G |
HNRNPA2B1 |
heterogeneous nuclear ribonucleoprotein A2/B1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:26,835,881...26,846,578
Ensembl chr 7:26,439,443...26,449,985
|
|
G |
HOXA1 |
homeobox A1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:27,737,432...27,740,442
Ensembl chr 7:27,335,710...27,339,747
|
|
G |
HOXA10 |
homeobox A10 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:27,815,112...27,818,829
Ensembl chr 7:27,415,833...27,423,580
|
|
G |
HOXA11 |
homeobox A11 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:27,826,003...27,829,757
Ensembl chr 7:27,424,759...27,429,103
|
|
G |
HOXA13 |
homeobox A13 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:27,838,656...27,844,562
|
|
G |
HOXA2 |
homeobox A2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:27,745,138...27,747,129
Ensembl chr 7:27,344,469...27,346,789
|
|
G |
HOXA3 |
homeobox A3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:27,750,642...27,767,125
Ensembl chr 7:27,350,491...27,371,169
|
|
G |
HOXA4 |
homeobox A4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:27,773,001...27,775,284
|
|
G |
HOXA5 |
homeobox A5 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:27,786,040...27,789,339
Ensembl chr 7:27,385,175...27,388,990
|
|
G |
HOXA6 |
homeobox A6 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:27,790,031...27,792,348
Ensembl chr 7:27,389,679...27,391,997
|
|
G |
HOXA7 |
homeobox A7 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:27,799,317...27,802,492
Ensembl chr 7:27,396,898...27,402,142
|
|
G |
HOXA9 |
homeobox A9 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:27,806,942...27,810,304
Ensembl chr 7:27,405,931...27,409,984
|
|
G |
HSPB1 |
heat shock protein family B (small) member 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984
|
|
G |
HUS1 |
HUS1 checkpoint clamp component |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:48,606,848...48,622,194
Ensembl chr 7:48,714,668...48,731,005
|
|
G |
HYCC1 |
hyccin PI4KA lipid kinase complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:23,639,552...23,710,910
Ensembl chr 7:23,251,468...23,298,201
|
|
G |
IFRD1 |
interferon related developmental regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:104,412,763...104,438,490
Ensembl chr 7:117,115,187...117,141,887
|
|
G |
IFT22 |
intraflagellar transport 22 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:93,452,017...93,462,508
Ensembl chr 7:106,693,729...106,701,668
|
|
G |
IFT56 |
intraflagellar transport 56 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:131,092,241...131,150,109
Ensembl chr 7:143,579,500...143,636,362
|
|
G |
IGF2BP3 |
insulin like growth factor 2 mRNA binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:23,994,839...24,148,709
Ensembl chr 7:23,602,905...23,755,473
|
|
G |
IGFBP1 |
insulin like growth factor binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:46,538,566...46,545,536
Ensembl chr 7:46,658,097...46,662,584
|
|
G |
IGFBP3 |
insulin like growth factor binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:46,564,234...46,573,145
|
|
G |
IKZF1 |
IKAROS family zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:50,946,817...51,047,168
Ensembl chr 7:51,191,685...51,291,245
|
|
G |
IL6 |
interleukin 6 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:23,415,922...23,420,767
|
|
G |
IMMP2L |
inner mitochondrial membrane peptidase subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:102,647,212...103,536,293
|
|
G |
IMPDH1 |
inosine monophosphate dehydrogenase 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:120,382,719...120,400,417
Ensembl chr 7:133,036,328...133,053,580
|
|
G |
ING3 |
inhibitor of growth family member 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:112,955,848...112,984,473
Ensembl chr 7:125,643,332...125,671,566
|
|
G |
INHBA |
inhibin subunit beta A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:42,538,591...42,556,578
Ensembl chr 7:42,580,730...42,595,097
|
|
G |
INMT |
indolethylamine N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:31,359,126...31,369,757
Ensembl chr 7:31,485,671...31,489,661
|
|
G |
IQUB |
IQ motif and ubiquitin domain containing |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:115,458,031...115,541,711
Ensembl chr 7:128,142,106...128,223,780
|
|
G |
IRF5 |
interferon regulatory factor 5 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:120,889,752...120,902,096
Ensembl chr 7:133,415,170...133,426,356
|
|
G |
ITGB8 |
integrin subunit beta 8 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:21,019,917...21,105,143
Ensembl chr 7:20,336,031...20,415,666
|
|
G |
ITPRID1 |
ITPR interacting domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:32,138,256...32,265,204
Ensembl chr 7:32,256,671...32,383,052
|
|
G |
JAZF1 |
JAZF zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:28,477,005...28,826,561
Ensembl chr 7:28,072,363...28,233,192
|
|
G |
KBTBD2 |
kelch repeat and BTB domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:33,463,369...33,490,367
Ensembl chr 7:33,863,972...33,892,200
|
|
G |
KCND2 |
potassium voltage-gated channel subfamily D member 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:112,277,018...112,751,896
Ensembl chr 7:124,966,816...125,437,430
|
|
G |
KCP |
kielin cysteine rich BMP regulator |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:120,822,442...120,861,638
Ensembl chr 7:133,353,558...133,387,170
|
|
G |
KCTD7 |
potassium channel tetramerization domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:59,392,366...59,435,993
Ensembl chr 7:73,687,952...73,697,728
|
|
G |
KDM7A |
lysine demethylase 7A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:132,022,983...132,118,881
Ensembl chr 7:144,510,213...144,561,230
|
|
G |
KIAA1549 |
KIAA1549 ortholog |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:130,790,115...130,940,250
Ensembl chr 7:143,283,947...143,427,404
|
|
G |
KLF14 |
KLF transcription factor 14 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:122,695,015...122,696,635
|
|
G |
KLHDC10 |
kelch domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:122,036,564...122,101,840
Ensembl chr 7:134,555,062...134,620,225
|
|
G |
KLHL7 |
kelch like family member 7 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:23,788,760...23,858,965
Ensembl chr 7:23,399,135...23,467,919
|
|
G |
KLRG2 |
killer cell lectin like receptor G2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:131,399,485...131,431,598
Ensembl chr 7:143,884,701...143,915,138
|
|
G |
KMT2E |
lysine methyltransferase 2E (inactive) |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:97,001,250...97,099,956
Ensembl chr 7:109,734,808...109,832,851
|
|
G |
KPNA7 |
karyopherin subunit alpha 7 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:91,141,586...91,177,628
Ensembl chr 7:104,645,887...104,680,568
|
|
G |
KRIT1 |
KRIT1 ankyrin repeat containing |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895
|
|
G |
LAMB1 |
laminin subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:99,905,761...99,985,233
Ensembl chr 7:112,627,488...112,706,554
|
|
G |
LAMB4 |
laminin subunit beta 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:100,005,662...100,112,128
Ensembl chr 7:112,727,343...112,825,707
|
|
G |
LAMTOR4 |
late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,183,617...92,188,967
Ensembl chr 7:105,616,074...105,621,685
|
|
G |
LANCL2 |
LanC like glutathione S-transferase 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:55,958,850...56,025,166
Ensembl chr 7:56,268,426...56,335,549
|
|
G |
LAT2 |
linker for activation of T cells family member 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:81,350,666...81,377,115
|
|
G |
LEP |
leptin |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
|
|
G |
LHFPL3 |
LHFPL tetraspan subfamily member 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:96,316,385...96,896,361
|
|
G |
LIMK1 |
LIM domain kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:81,231,876...81,271,282
|
|
G |
LINC02902 |
long intergenic non-protein coding RNA 2902 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:48,263,668...48,304,319
|
|
G |
LMOD2 |
leiomodin 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:115,649,102...115,657,174
Ensembl chr 7:128,331,803...128,340,263
|
|
G |
LMTK2 |
lemur tyrosine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:6,312,634...6,415,332
Ensembl chr 7:103,572,011...103,672,453
|
|
G |
LOC100967410 |
aldo-keto reductase family 1 member B15 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:126,505,251...126,538,195
Ensembl chr 7:139,029,410...139,044,354
|
|
G |
LOC100967860 |
zinc finger protein 92 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:60,994,255...61,021,774
Ensembl chr 7:65,065,628...65,091,104
|
|
G |
LOC100968685 |
probable G-protein coupled receptor 141 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:38,166,383...38,383,346
Ensembl chr 7:38,601,459...38,602,376
|
|
G |
LOC100970768 |
T-cell receptor gamma alternate reading frame protein |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:38,869,933...38,892,677
|
|
G |
LOC100971047 |
mucin-17 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:93,178,939...93,198,279
|
|
G |
LOC100972043 |
ras GTPase-activating protein 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:94,623,292...94,671,082
|
|
G |
LOC100974636 |
zinc finger protein 107 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:61,487,006...61,530,864
|
|
G |
LOC100974682 |
histone H2A.V |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:45,543,839...45,561,970
Ensembl chr 7:45,612,565...45,630,680
|
|
G |
LOC100977063 |
cytochrome c oxidase assembly factor 1 homolog |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:40,521,542...40,642,646
Ensembl chr 7:40,645,777...40,657,169
|
|
G |
LOC100980965 |
zinc-alpha-2-glycoprotein |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:91,999,717...92,009,066
Ensembl chr 7:105,432,782...105,442,219
|
|
G |
LOC100983753 |
nuclear envelope pore membrane protein POM 121C |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:80,428,068...80,455,352
|
|
G |
LOC100986481 |
cytochrome c |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:25,784,900...25,791,598
Ensembl chr 7:25,396,013...25,398,549
|
|
G |
LOC100990437 |
NADPH--cytochrome P450 reductase |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:68,035,021...68,105,934
Ensembl chr 7:82,364,418...82,437,530
|
|
G |
LOC100992172 |
SBDS ribosome maturation factor |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:59,090,343...59,098,332
|
|
G |
LOC100993185 |
putative phosphoserine phosphatase-like protein |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:56,351,434...56,376,714
|
|
G |
LOC100993573 |
rab5 GDP/GTP exchange factor |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:59,268,053...59,344,555
Ensembl chr 7:73,775,002...73,850,446
|
|
G |
LOC100995139 |
amphiphysin |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:39,015,699...39,262,120
Ensembl chr 7:39,250,081...39,495,844
|
|
G |
LOC103782679 |
paired immunoglobulin-like type 2 receptor beta |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,364,862...92,429,017
Ensembl chr 7:105,805,106...105,831,142 Ensembl chr 7:105,805,106...105,831,142
|
|
G |
LOC117978629 |
tripartite motif-containing protein 73 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
|
|
G |
LOC117980981 |
zinc finger protein 479 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:57,796,037...57,809,610
|
|
G |
LOC117981049 |
speedy protein E12 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,342,287...92,348,832
|
|
G |
LOC117981060 |
uroplakin-3b-like protein 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:94,674,526...94,699,000
|
|
G |
LOC129398270 |
olfactory receptor 2AE1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:105,344,839...105,345,810
|
|
G |
LRCH4 |
leucine rich repeats and calponin homology domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,601,158...92,613,274
Ensembl chr 7:106,004,101...106,015,061
|
|
G |
LRGUK |
leucine rich repeats and guanylate kinase domain containing |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:126,087,557...126,225,253
Ensembl chr 7:138,595,150...138,731,507
|
|
G |
LRRC17 |
leucine rich repeat containing 17 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:94,884,624...94,917,576
Ensembl chr 7:107,756,505...107,767,445
|
|
G |
LRRC4 |
leucine rich repeat containing 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:120,018,613...120,022,973
Ensembl chr 7:132,671,114...132,676,378
|
|
G |
LRRC72 |
leucine rich repeat containing 72 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:17,180,011...17,238,810
Ensembl chr 7:16,507,468...16,564,320
|
|
G |
LRRD1 |
leucine rich repeats and death domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:84,142,698...84,176,943
Ensembl chr 7:97,738,096...97,774,111
|
|
G |
LRRN3 |
leucine rich repeat neuronal 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:103,072,402...103,106,880
Ensembl chr 7:115,819,307...115,821,433
|
|
G |
LRWD1 |
leucine rich repeats and WD repeat domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:94,605,364...94,613,348
|
|
G |
LSM5 |
LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:33,094,545...33,104,489
|
|
G |
LSM8 |
LSM8 homolog, U6 small nuclear RNA associated |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:110,150,584...110,160,864
|
|
G |
LSMEM1 |
leucine rich single-pass membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:104,441,634...104,459,220
Ensembl chr 7:117,144,969...117,161,709
|
|
G |
LUC7L2 |
LUC7 like 2, pre-mRNA splicing factor |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:131,307,590...131,371,599
Ensembl chr 7:143,774,046...143,855,477
|
|
G |
MACC1 |
MET transcriptional regulator MACC1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:20,826,105...20,904,602
Ensembl chr 7:20,144,960...20,170,423
|
|
G |
MAGI2 |
membrane associated guanylate kinase, WW and PDZ domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:69,943,704...71,395,176
Ensembl chr 7:83,758,512...84,760,872
|
|
G |
MALSU1 |
mitochondrial assembly of ribosomal large subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:23,983,904...23,994,196
Ensembl chr 7:23,591,478...23,602,262
|
|
G |
MATCAP2 |
microtubule associated tyrosine carboxypeptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:36,945,774...37,011,771
Ensembl chr 7:37,176,246...37,241,779
|
|
G |
MBLAC1 |
metallo-beta-lactamase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,162,025...92,163,678
Ensembl chr 7:105,595,781...105,596,582
|
|
G |
MCM7 |
minichromosome maintenance complex component 7 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,128,037...92,136,976
Ensembl chr 7:105,561,591...105,570,720
|
|
G |
MDFIC |
MyoD family inhibitor domain containing |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:106,886,481...106,983,546
Ensembl chr 7:119,584,817...119,678,614
|
|
G |
MDH2 |
malate dehydrogenase 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:67,953,759...67,973,270
Ensembl chr 7:82,497,800...82,516,526
|
|
G |
MEOX2 |
mesenchyme homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:16,268,225...16,343,914
Ensembl chr 7:15,598,466...15,673,935
|
|
G |
MEPCE |
methylphosphate capping enzyme |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,457,967...92,463,102
Ensembl chr 7:105,861,205...105,864,739
|
|
G |
MEST |
mesoderm specific transcript |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:122,450,524...122,470,855
Ensembl chr 7:134,968,638...134,988,564
|
|
G |
MET |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
|
|
G |
METTL27 |
methyltransferase like 27 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:80,987,370...80,992,344
|
|
G |
METTL2B |
methyltransferase 2B, tRNA N3-cytidine |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:120,467,773...120,493,024
|
|
G |
MINDY4 |
MINDY lysine 48 deubiquitinase 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:31,384,527...31,505,551
Ensembl chr 7:31,504,351...31,625,097
|
|
G |
MKLN1 |
muskelin 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:123,075,319...123,463,509
Ensembl chr 7:135,806,585...135,968,032
|
|
G |
MKRN1 |
makorin ring finger protein 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:132,391,357...132,417,395
Ensembl chr 7:144,867,541...144,893,658
|
|
G |
MLXIPL |
MLX interacting protein like |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:80,745,765...80,776,153
|
|
G |
MOGAT3 |
monoacylglycerol O-acyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:93,337,040...93,342,822
Ensembl chr 7:106,577,727...106,582,799
|
|
G |
MOSPD3 |
motile sperm domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,639,151...92,642,464
Ensembl chr 7:106,040,375...106,047,767
|
|
G |
MPLKIP |
M-phase specific PLK1 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:44,100,768...44,102,786
Ensembl chr 7:44,139,855...44,141,991
|
|
G |
MRPL32 |
mitochondrial ribosomal protein L32 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:41,299,092...41,304,647
Ensembl chr 7:41,342,706...41,348,266
|
|
G |
MRPS17 |
mitochondrial ribosomal protein S17 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:56,564,787...56,569,715
Ensembl chr 7:56,988,778...56,993,467
|
|
G |
MRPS24 |
mitochondrial ribosomal protein S24 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:40,381,723...40,384,745
Ensembl chr 7:40,427,349...40,430,335
|
|
G |
MTERF1 |
mitochondrial transcription termination factor 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:83,873,039...83,882,815
Ensembl chr 7:97,473,701...97,478,476
|
|
G |
MTPN |
myotrophin |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:127,896,148...127,947,122
Ensembl chr 7:140,392,620...140,443,591
|
|
G |
MTURN |
maturin, neural progenitor differentiation regulator homolog |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:30,766,592...30,794,436
|
|
G |
MUC12 |
mucin 12, cell surface associated |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:93,105,024...93,139,407
|
|
G |
MUC3A |
mucin 3A, cell surface associated |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,974,006...92,993,990
|
|
G |
MYL10 |
myosin light chain 10 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:93,751,255...93,767,214
Ensembl chr 7:106,986,697...107,002,148
|
|
G |
MYL7 |
myosin light chain 7 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:44,853,215...44,855,728
Ensembl chr 7:44,920,572...44,923,070
|
|
G |
MYO1G |
myosin IG |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:45,676,225...45,693,013
Ensembl chr 7:45,740,036...45,759,819
|
|
G |
NACAD |
NAC alpha domain containing |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:45,794,340...45,802,532
|
|
G |
NAMPT |
nicotinamide phosphoribosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:98,227,071...98,262,254
Ensembl chr 7:110,952,876...110,981,967
|
|
G |
NAPEPLD |
N-acyl phosphatidylethanolamine phospholipase D |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:95,074,084...95,123,936
Ensembl chr 7:107,923,960...107,973,269
|
|
G |
NAT16 |
N-acetyltransferase 16 (putative) |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:93,310,922...93,320,565
Ensembl chr 7:106,554,021...106,556,842
|
|
G |
NCF1 |
neutrophil cytosolic factor 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:81,917,167...81,932,589
|
|
G |
NDUFA5 |
NADH:ubiquinone oxidoreductase subunit A5 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:115,547,062...115,563,948
Ensembl chr 7:128,230,035...128,246,800
|
|
G |
NDUFB2 |
NADH:ubiquinone oxidoreductase subunit B2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:132,629,353...132,654,824
Ensembl chr 7:145,101,602...145,128,866
|
|
G |
NEUROD6 |
neuronal differentiation 6 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:31,949,900...31,953,353
|
|
G |
NFE2L3 |
NFE2 like bZIP transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:26,798,049...26,833,069
Ensembl chr 7:26,402,451...26,435,056
|
|
G |
NIPSNAP2 |
nipsnap homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:56,577,763...56,613,417
Ensembl chr 7:57,002,001...57,036,333
|
|
G |
NME8 |
NME/NM23 family member 8 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:38,128,610...38,536,611
Ensembl chr 7:38,708,937...38,757,795
|
|
G |
NOD1 |
nucleotide binding oligomerization domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:31,060,245...31,109,012
Ensembl chr 7:31,182,275...31,208,742
|
|
G |
NPC1L1 |
NPC1 like intracellular cholesterol transporter 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:45,227,289...45,256,094
Ensembl chr 7:45,297,271...45,324,692
|
|
G |
NPSR1 |
neuropeptide S receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:35,274,102...35,494,389
Ensembl chr 7:35,663,335...35,883,988
|
|
G |
NPTX2 |
neuronal pentraxin 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:90,581,250...90,593,880
|
|
G |
NPVF |
neuropeptide VF precursor |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:25,883,679...25,887,596
Ensembl chr 7:25,489,577...25,493,126
|
|
G |
NPY |
neuropeptide Y |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:24,963,056...24,970,803
Ensembl chr 7:24,568,041...24,574,657
|
|
G |
NRCAM |
neuronal cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:100,129,389...100,442,910
Ensembl chr 7:112,849,811...112,942,413
|
|
G |
NRF1 |
nuclear respiratory factor 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:121,574,061...121,719,604
Ensembl chr 7:134,113,482...134,240,158
|
|
G |
NSUN5 |
NOP2/Sun RNA methyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:80,455,353...80,461,316
|
|
G |
NT5C3A |
5'-nucleotidase, cytosolic IIIA |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:33,608,746...33,657,380
Ensembl chr 7:34,009,467...34,057,740
|
|
G |
NUDCD3 |
NudC domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:45,094,217...45,205,327
Ensembl chr 7:45,166,752...45,274,475
|
|
G |
NUP205 |
nucleoporin 205 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:127,525,777...127,620,680
Ensembl chr 7:140,037,092...140,118,983
|
|
G |
NUP42 |
nucleoporin 42 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:23,864,937...23,884,596
Ensembl chr 7:23,473,868...23,493,316
|
|
G |
NUPR2 |
nuclear protein 2, transcriptional regulator |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:56,727,702...56,729,433
|
|
G |
NYAP1 |
neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,512,796...92,523,743
Ensembl chr 7:105,914,389...105,925,434
|
|
G |
OCM2 |
oncomodulin 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:6,534,896...6,540,900
|
|
G |
OGDH |
oxoglutarate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:45,321,559...45,422,515
Ensembl chr 7:45,409,148...45,491,636
|
|
G |
OPN1SW |
opsin 1, short wave sensitive |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:120,724,363...120,727,649
Ensembl chr 7:133,246,131...133,251,464
|
|
G |
ORAI2 |
ORAI calcium release-activated calcium modulator 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:94,573,923...94,592,028
|
|
G |
ORC5 |
origin recognition complex subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:96,118,272...96,197,216
Ensembl chr 7:108,861,281...108,939,389
|
|
G |
OSBPL3 |
oxysterol binding protein like 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:25,471,477...25,654,883
Ensembl chr 7:25,077,818...25,173,534
|
|
G |
PALS2 |
protein associated with LIN7 2, MAGUK p55 family member |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:25,248,710...25,368,829
Ensembl chr 7:24,899,798...24,967,402
|
|
G |
PARP12 |
poly(ADP-ribose) polymerase family member 12 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:131,962,104...132,001,945
Ensembl chr 7:144,442,973...144,480,006
|
|
G |
PAX4 |
paired box 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:119,605,924...119,613,579
Ensembl chr 7:132,260,859...132,268,516
|
|
G |
PCLO |
piccolo presynaptic cytomatrix protein |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:74,714,364...75,126,518
|
|
G |
PCOLCE |
procollagen C-endopeptidase enhancer |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,629,148...92,635,357
Ensembl chr 7:106,030,934...106,036,582
|
|
G |
PDAP1 |
PDGFA associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:91,369,488...91,382,161
Ensembl chr 7:104,871,576...104,884,276
|
|
G |
PDE1C |
phosphodiesterase 1C |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:32,225,293...33,037,627
Ensembl chr 7:32,343,701...33,029,405
|
|
G |
PDK4 |
pyruvate dehydrogenase kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:87,540,600...87,553,673
Ensembl chr 7:101,128,060...101,141,157
|
|
G |
PEG10 |
paternally expressed 10 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:86,606,249...86,619,580
|
|
G |
PEX1 |
peroxisomal biogenesis factor 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:84,484,965...84,526,309
Ensembl chr 7:98,081,021...98,122,335
|
|
G |
PGAM2 |
phosphoglycerate mutase 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:44,776,722...44,780,248
Ensembl chr 7:44,843,067...44,845,984
|
|
G |
PHKG1 |
phosphorylase kinase catalytic subunit gamma 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:56,693,252...56,706,474
Ensembl chr 7:57,115,921...57,139,516
|
|
G |
PHTF2 |
putative homeodomain transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:69,724,248...69,885,162
Ensembl chr 7:83,579,418...83,695,756
|
|
G |
PIK3CG |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614
|
|
G |
PKD1L1 |
polycystin 1 like 1, transient receptor potential channel interacting |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:48,451,329...48,596,991
Ensembl chr 7:48,545,432...48,701,736
|
|
G |
PLEKHA8 |
pleckstrin homology domain containing A8 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:30,657,504...30,762,105
Ensembl chr 7:30,774,203...30,877,631
|
|
G |
PLOD3 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:93,347,335...93,358,921
Ensembl chr 7:106,587,858...106,599,605
|
|
G |
PLXNA4 |
plexin A4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:124,097,028...124,621,504
Ensembl chr 7:136,643,657...136,992,405
|
|
G |
PMPCB |
peptidase, mitochondrial processing subunit beta |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:95,288,747...95,320,294
Ensembl chr 7:108,033,235...108,050,302
|
|
G |
PNPLA8 |
patatin like phospholipase domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:100,456,096...100,511,836
Ensembl chr 7:113,177,202...113,230,799
|
|
G |
PODXL |
podocalyxin like |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:123,467,140...123,523,503
Ensembl chr 7:135,984,592...135,992,815
|
|
G |
POLD2 |
DNA polymerase delta 2, accessory subunit |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:44,829,040...44,837,928
Ensembl chr 7:44,896,320...44,905,393
|
|
G |
POLM |
DNA polymerase mu |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:44,785,797...44,796,624
Ensembl chr 7:44,852,594...44,862,816
|
|
G |
POLR1F |
RNA polymerase I subunit F |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:20,369,819...20,383,414
Ensembl chr 7:19,692,639...19,703,338
|
|
G |
POM121 |
POM121 transmembrane nucleoporin |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
|
|
G |
POM121L12 |
POM121 transmembrane nucleoporin like 12 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:53,672,854...53,674,134
Ensembl chr 7:53,985,049...53,985,939
|
|
G |
POMZP3 |
POM121 and ZP3 fusion |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:67,404,702...67,422,739
|
|
G |
PON1 |
paraoxonase 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
|
|
G |
PON2 |
paraoxonase 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:87,362,447...87,392,795
Ensembl chr 7:100,950,074...100,980,433
|
|
G |
PON3 |
paraoxonase 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:87,314,788...87,354,020
Ensembl chr 7:100,902,432...100,941,611
|
|
G |
POP7 |
POP7 homolog, ribonuclease P/MRP subunit |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,722,839...92,734,708
Ensembl chr 7:106,134,766...106,135,188
|
|
G |
POT1 |
protection of telomeres 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:116,807,913...116,926,998
Ensembl chr 7:129,487,571...129,605,558
|
|
G |
POU6F2 |
POU class 6 homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:39,613,073...40,104,152
Ensembl chr 7:39,875,708...40,330,667
|
|
G |
PPIA |
peptidylprolyl isomerase A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:45,510,450...45,515,448
Ensembl chr 7:45,578,765...45,605,545
|
|
G |
PPP1R17 |
protein phosphatase 1 regulatory subunit 17 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:32,296,330...32,317,606
Ensembl chr 7:32,413,485...32,434,886
|
|
G |
PPP1R35 |
protein phosphatase 1 regulatory subunit 35 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,464,264...92,465,513
Ensembl chr 7:105,866,547...105,867,830
|
|
G |
PPP1R3A |
protein phosphatase 1 regulatory subunit 3A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:105,831,567...105,873,793
Ensembl chr 7:118,529,362...118,571,770
|
|
G |
PPP1R9A |
protein phosphatase 1 regulatory subunit 9A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:86,863,919...87,251,634
Ensembl chr 7:100,455,357...100,833,220
|
|
G |
PRKAR2B |
protein kinase cAMP-dependent type II regulatory subunit beta |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:99,021,209...99,140,652
Ensembl chr 7:111,748,463...111,866,044
|
|
G |
PRKRIP1 |
PRKR interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:94,515,712...94,567,066
Ensembl chr13:24,723,062...24,734,122
|
|
G |
PRPS1L1 |
phosphoribosyl pyrophosphate synthetase 1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:18,680,579...18,681,655
|
|
G |
PRR15 |
proline rich 15 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:30,206,558...30,210,422
Ensembl chr 7:29,802,905...29,803,294
|
|
G |
PRRT4 |
proline rich transmembrane protein 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:120,341,463...120,353,705
|
|
G |
PSMA2 |
proteasome 20S subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:41,304,746...41,319,844
Ensembl chr 7:41,348,364...41,363,986
|
|
G |
PSMC2 |
proteasome 26S subunit, ATPase 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:95,338,743...95,359,353
Ensembl chr 7:108,083,203...108,103,494
|
|
G |
PTCD1 |
pentatricopeptide repeat domain 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:91,392,616...91,411,904
Ensembl chr 7:104,894,369...104,913,860
|
|
G |
PTN |
pleiotrophin |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:129,184,786...129,300,815
Ensembl chr 7:141,701,430...141,705,623
|
|
G |
PTPN12 |
protein tyrosine phosphatase non-receptor type 12 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:69,457,158...69,560,111
Ensembl chr 7:83,268,834...83,371,120
|
|
G |
PTPRZ1 |
protein tyrosine phosphatase receptor type Z1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:113,882,557...114,073,283
Ensembl chr 7:126,569,630...126,758,155
|
|
G |
PURB |
purine rich element binding protein B |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:45,590,183...45,600,089
Ensembl chr 7:45,667,233...45,668,159
|
|
G |
PUS7 |
pseudouridine synthase 7 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:97,447,332...97,512,812
Ensembl chr 7:110,177,284...110,243,923
|
|
G |
PVRIG |
PVR related immunoglobulin domain containing |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,254,639...92,256,592
Ensembl chr 7:105,687,005...105,689,674
|
|
G |
RAB19 |
RAB19, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:132,345,288...132,367,298
Ensembl chr 7:144,824,042...144,844,761
|
|
G |
RALA |
RAS like proto-oncogene A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:44,528,146...44,611,431
Ensembl chr 7:44,559,380...44,580,495
|
|
G |
RAMP3 |
receptor activity modifying protein 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:45,871,687...45,898,159
Ensembl chr 7:45,937,607...45,966,041
|
|
G |
RAPGEF5 |
Rap guanine nucleotide exchange factor 5 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:22,806,855...23,047,663
Ensembl chr 7:22,122,434...22,317,650
|
|
G |
RBM28 |
RNA binding motif protein 28 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:120,211,198...120,335,079
Ensembl chr 7:132,955,078...132,988,576
|
|
G |
RBM48 |
RNA binding motif protein 48 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:84,526,533...84,535,772
Ensembl chr 7:98,122,495...98,130,886
|
|
G |
RCC1L |
RCC1 like |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:82,016,477...82,065,189
|
|
G |
RELN |
reelin |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:95,464,285...95,984,813
Ensembl chr 7:108,208,344...108,728,037
|
|
G |
RFC2 |
replication factor C subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:81,378,937...81,401,937
|
|
G |
RHBDD2 |
rhomboid domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:68,132,256...68,142,198
Ensembl chr 7:82,328,777...82,338,401
|
|
G |
RINT1 |
RAD50 interactor 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:97,522,208...97,567,897
Ensembl chr 7:110,252,776...110,287,702
|
|
G |
RNF133 |
ring finger protein 133 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:114,707,995...114,709,482
|
|
G |
RNF148 |
ring finger protein 148 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:114,711,928...114,713,223
|
|
G |
RSBN1L |
round spermatid basic protein 1 like |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:69,611,208...69,708,170
Ensembl chr 7:83,426,713...83,519,420
|
|
G |
RUNDC3B |
RUN domain containing 3B |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:79,621,222...79,829,021
Ensembl chr 7:93,270,747...93,477,463
|
|
G |
SAMD9L |
sterile alpha motif domain containing 9 like |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:85,086,661...85,104,983
|
|
G |
SAP25 |
Sin3A associated protein 25 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,599,340...92,601,029
Ensembl chr 7:106,001,455...106,002,918
|
|
G |
SCIN |
scinderin |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:13,269,361...13,351,854
Ensembl chr 7:12,613,996...12,696,244
|
|
G |
SCRN1 |
secernin 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:30,550,199...30,619,197
Ensembl chr 7:30,667,229...30,736,129
|
|
G |
SDHAF3 |
succinate dehydrogenase complex assembly factor 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:89,069,374...89,133,394
Ensembl chr 7:102,653,723...102,717,045
|
|
G |
SEC61G |
SEC61 translocon subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:55,346,034...55,353,779
Ensembl chr 7:55,657,507...55,664,567
|
|
G |
SEM1 |
SEM1, 26S proteasome complex subunit |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:88,647,366...88,668,476
|
|
G |
SEMA3A |
semaphorin 3A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:75,929,699...76,484,246
Ensembl chr 7:89,590,359...90,004,122
|
|
G |
SEMA3C |
semaphorin 3C |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:72,706,615...72,884,163
Ensembl chr 7:86,368,753...86,545,580
|
|
G |
SEMA3D |
semaphorin 3D |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:76,964,151...77,155,472
Ensembl chr 7:90,624,398...90,750,389
|
|
G |
SEMA3E |
semaphorin 3E |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:75,329,049...75,612,946
Ensembl chr 7:88,995,049...89,274,241
|
|
G |
SEPTIN14 |
septin 14 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:56,395,962...56,467,826
Ensembl chr 7:56,830,212...56,890,798
|
|
G |
SEPTIN7 |
septin-7 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:36,427,252...36,531,668
Ensembl chr 7:36,662,430...36,766,632
|
|
G |
SERPINE1 |
serpin family E member 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
|
|
G |
SFRP4 |
secreted frizzled related protein 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:38,542,105...38,553,008
Ensembl chr 7:38,764,146...38,774,264
|
|
G |
SGCE |
sarcoglycan epsilon |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:86,535,215...86,606,114
|
|
G |
SH2B2 |
SH2B adaptor protein 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:94,425,297...94,447,644
|
|
G |
SKAP2 |
src kinase associated phosphoprotein 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:27,309,599...27,505,842
Ensembl chr 7:26,911,734...27,106,285
|
|
G |
SLC12A9 |
solute carrier family 12 member 9 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,877,655...92,891,957
Ensembl chr 7:106,288,530...106,294,968 Ensembl chr 7:106,288,530...106,294,968
|
|
G |
SLC13A1 |
solute carrier family 13 member 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:115,123,178...115,208,215
Ensembl chr 7:127,808,034...127,893,070
|
|
G |
SLC13A4 |
solute carrier family 13 member 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:127,653,170...127,700,080
Ensembl chr 7:140,150,963...140,197,418
|
|
G |
SLC25A13 |
solute carrier family 25 member 13 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:88,072,139...88,273,470
Ensembl chr 7:101,658,507...101,859,587
|
|
G |
SLC25A40 |
solute carrier family 25 member 40 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:79,830,280...79,873,088
Ensembl chr 7:93,478,733...93,521,459
|
|
G |
SLC26A3 |
solute carrier family 26 member 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:99,747,405...99,776,763
Ensembl chr 7:112,470,041...112,507,671
|
|
G |
SLC26A4 |
solute carrier family 26 member 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:99,640,703...99,698,109
Ensembl chr 7:112,364,126...112,415,637
|
|
G |
SLC26A5 |
solute carrier family 26 member 5 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:95,363,028...95,437,527
Ensembl chr 7:108,088,197...108,178,578
|
|
G |
SLC35B4 |
solute carrier family 35 member B4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:126,249,622...126,277,395
Ensembl chr 7:138,761,768...138,783,720
|
|
G |
SLC37A3 |
solute carrier family 37 member 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:132,236,350...132,338,150
Ensembl chr 7:144,755,561...144,815,491
|
|
G |
SMKR1 |
small lysine rich protein 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:121,464,310...121,474,543
|
|
G |
SMO |
smoothened, frizzled class receptor |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048
|
|
G |
SMURF1 |
SMAD specific E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:90,995,923...91,112,240
Ensembl chr 7:104,500,965...104,568,046
|
|
G |
SND1 |
staphylococcal nuclease and tudor domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:119,647,536...120,084,110
Ensembl chr 7:132,302,235...132,738,223
|
|
G |
SNX10 |
sorting nexin 10 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:26,935,357...27,017,461
Ensembl chr 7:26,537,189...26,620,720
|
|
G |
SNX13 |
sorting nexin 13 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:18,444,092...18,593,950
Ensembl chr 7:17,749,772...17,920,085
|
|
G |
SOSTDC1 |
sclerostin domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:17,193,531...17,229,769
Ensembl chr 7:16,443,703...16,448,076 Ensembl chr 7:16,443,703...16,448,076
|
|
G |
SP4 |
Sp4 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:22,113,013...22,200,012
Ensembl chr 7:21,421,259...21,512,238
|
|
G |
SP8 |
Sp8 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:21,456,649...21,463,844
|
|
G |
SPACDR |
sperm acrosome developmental regulator |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,485,588...92,493,539
Ensembl chr 7:105,887,295...105,894,117
|
|
G |
SPAM1 |
sperm adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:115,916,304...115,951,103
Ensembl chr 7:128,623,193...128,643,550
|
|
G |
SPMIP4 |
sperm microtubule inner protein 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:25,807,277...25,853,071
Ensembl chr 7:25,413,691...25,458,682
|
|
G |
SPMIP7 |
sperm microtubule inner protein 7 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:50,738,047...50,802,041
Ensembl chr 7:50,984,231...51,047,029
|
|
G |
SRI |
sorcin |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:80,199,719...80,214,733
Ensembl chr 7:93,850,496...93,864,029
|
|
G |
SRPK2 |
SRSF protein kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:97,102,226...97,378,773
Ensembl chr 7:109,834,478...109,989,050
|
|
G |
SRRM3 |
serine/arginine repetitive matrix 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:67,732,909...67,818,031
|
|
G |
SRRT |
serrate, RNA effector molecule |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,900,023...92,913,690
Ensembl chr 7:106,296,488...106,310,257
|
|
G |
SSC4D |
scavenger receptor cysteine rich family member with 4 domains |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:67,610,728...67,631,061
|
|
G |
SSMEM1 |
serine rich single-pass membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:122,174,764...122,183,708
Ensembl chr 7:134,692,392...134,700,857
|
|
G |
ST7 |
suppression of tumorigenicity 7 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:108,922,652...109,197,805
Ensembl chr 7:121,680,200...121,896,175
|
|
G |
STAG3 |
STAG3 cohesin complex component |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,215,064...92,249,202
Ensembl chr 7:105,648,425...105,681,850
|
|
G |
STARD3NL |
STARD3 N-terminal like |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:38,811,588...38,864,042
Ensembl chr 7:39,032,337...39,084,789
|
|
G |
STEAP1 |
STEAP family member 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:82,163,172...82,173,587
Ensembl chr 7:95,770,938...95,775,877
|
|
G |
STEAP1B |
STEAP family member 1B |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:23,109,784...23,190,599
|
|
G |
STEAP2 |
STEAP2 metalloreductase |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:82,220,814...82,246,718
Ensembl chr 7:95,823,012...95,849,354
|
|
G |
STEAP4 |
STEAP4 metalloreductase |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:80,263,528...80,299,470
Ensembl chr 7:93,918,327...93,948,754
|
|
G |
STK17A |
serine/threonine kinase 17a |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:40,625,069...40,668,016
|
|
G |
STK31 |
serine/threonine kinase 31 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:24,388,237...24,516,712
Ensembl chr 7:23,992,232...24,120,105
|
|
G |
STMP1 |
short transmembrane mitochondrial protein 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
|
|
G |
STRA8 |
stimulated by retinoic acid 8 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:127,205,332...127,223,825
Ensembl chr 7:139,700,812...139,726,154
|
|
G |
STRIP2 |
striatin interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:121,391,919...121,450,204
Ensembl chr 7:133,917,544...133,971,515
|
|
G |
STX1A |
syntaxin 1A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:80,852,495...80,862,255
|
|
G |
STYXL1 |
serine/threonine/tyrosine interacting like 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:67,973,316...68,024,986
Ensembl chr 7:82,446,562...82,497,769
|
|
G |
SUGCT |
succinyl-CoA:glutarate-CoA transferase |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:43,381,156...44,100,614
Ensembl chr 7:43,421,615...44,139,738
|
|
G |
SUMF2 |
sulfatase modifying factor 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:56,677,230...56,693,639
|
|
G |
SUN3 |
Sad1 and UNC84 domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:48,629,697...48,728,738
Ensembl chr 7:48,738,493...48,779,798
|
|
G |
SVOPL |
SVOP like |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:130,555,572...130,661,267
Ensembl chr 7:143,045,251...143,127,415
|
|
G |
SYPL1 |
synaptophysin like 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:98,074,940...98,097,052
Ensembl chr 7:110,802,978...110,824,735
|
|
G |
TAC1 |
tachykinin precursor 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:89,675,834...89,684,391
Ensembl chr 7:103,257,501...103,266,389
|
|
G |
TAF6 |
TATA-box binding protein associated factor 6 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,142,646...92,154,951
Ensembl chr 7:105,575,861...105,588,142
|
|
G |
TAS2R16 |
taste 2 receptor member 16 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:115,003,966...115,004,950
Ensembl chr 7:127,687,899...127,688,774
|
|
G |
TAX1BP1 |
Tax1 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:28,379,135...28,476,179
Ensembl chr 7:27,975,026...28,074,513
|
|
G |
TBL2 |
transducin beta like 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:80,721,616...80,730,685
|
|
G |
TBRG4 |
transforming growth factor beta regulator 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:45,813,586...45,825,311
Ensembl chr 7:45,879,666...45,891,351
|
|
G |
TBX20 |
T-box transcription factor 20 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:35,855,969...35,878,533
|
|
G |
TBXAS1 |
thromboxane A synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:131,772,947...131,958,647
Ensembl chr 7:144,255,211...144,439,523
|
|
G |
TECPR1 |
tectonin beta-propeller repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:6,269,935...6,306,941
Ensembl chr 7:103,680,156...103,716,572
|
|
G |
TES |
testin LIM domain protein |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:108,176,519...108,224,816
Ensembl chr 7:120,873,762...120,922,333
|
|
G |
TEX47 |
testis expressed 47 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:80,786,625...80,788,997
Ensembl chr 7:94,435,850...94,436,611
|
|
G |
TFEC |
transcription factor EC |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:107,900,876...107,996,752
|
|
G |
TFPI2 |
tissue factor pathway inhibitor 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:85,835,141...85,839,515
Ensembl chr 7:99,426,006...99,431,099
|
|
G |
TFR2 |
transferrin receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,647,431...92,669,889
Ensembl chr 7:106,048,935...106,069,238
|
|
G |
THAP5 |
THAP domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:100,547,874...100,555,416
Ensembl chr 7:113,266,499...113,274,033
|
|
G |
TMED4 |
transmembrane p24 trafficking protein 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:45,289,666...45,297,030
Ensembl chr 7:45,361,693...45,366,395
|
|
G |
TMEM106B |
transmembrane protein 106B |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:12,905,192...12,931,170
Ensembl chr 7:12,250,010...12,270,693
|
|
G |
TMEM120A |
transmembrane protein 120A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:68,026,666...68,034,896
Ensembl chr 7:82,437,650...82,444,882
|
|
G |
TMEM130 |
transmembrane protein 130 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:90,813,524...90,837,227
Ensembl chr 7:104,319,203...104,343,087
|
|
G |
TMEM140 |
transmembrane protein 140 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:127,112,867...127,130,717
Ensembl chr 7:139,633,174...139,633,731
|
|
G |
TMEM168 |
transmembrane protein 168 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:104,729,362...104,756,299
Ensembl chr 7:117,433,384...117,458,000
|
|
G |
TMEM196 |
transmembrane protein 196 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:20,393,673...20,447,857
Ensembl chr 7:19,712,988...19,767,598
|
|
G |
TMEM209 |
transmembrane protein 209 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:122,131,462...122,172,325
Ensembl chr 7:134,648,846...134,689,897
|
|
G |
TMEM213 |
transmembrane protein 213 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:130,758,215...130,765,607
Ensembl chr 7:143,245,974...143,284,073
|
|
G |
TMEM229A |
transmembrane protein 229A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:116,021,378...116,023,524
Ensembl chr 7:128,704,539...128,705,678
|
|
G |
TMEM243 |
transmembrane protein 243 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:79,178,806...79,210,021
Ensembl chr 7:92,836,440...92,860,583
|
|
G |
TMEM248 |
transmembrane protein 248 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:59,127,475...59,165,406
Ensembl chr 7:73,963,370...73,990,770
|
|
G |
TMEM270 |
transmembrane protein 270 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:81,011,217...81,016,100
|
|
G |
TMEM60 |
transmembrane protein 60 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:69,719,209...69,723,899
Ensembl chr 7:83,533,732...83,534,133
|
|
G |
TNPO3 |
transportin 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:120,906,238...121,008,216
Ensembl chr 7:133,430,490...133,531,774
|
|
G |
TNS3 |
tensin 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:47,915,668...48,223,267
Ensembl chr 7:48,025,720...48,221,437
|
|
G |
TOMM7 |
translocase of outer mitochondrial membrane 7 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:23,501,438...23,511,321
Ensembl chr 7:23,112,630...23,122,195
|
|
G |
TP53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1631137 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8718514 PMID:8829627 PMID:11370630 PMID:11782540 PMID:12826609 PMID:15958617 PMID:16206219 PMID:16818505 PMID:17015838 PMID:17606709 PMID:19012332 PMID:19468865 PMID:20407015 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22915647 PMID:23161690 PMID:23246812 PMID:24573247 PMID:24857548 PMID:25186627 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:26014290 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30709381 PMID:30816478 PMID:32000721 PMID:32475984 PMID:33407742 More...
|
|
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
|
|
G |
TPST1 |
tyrosylprotein sulfotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:59,707,582...59,856,809
Ensembl chr 7:73,271,704...73,419,642
|
|
G |
TRA2A |
transformer 2 alpha homolog |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:24,184,844...24,213,889
Ensembl chr 7:23,791,479...23,820,124
|
|
G |
TRAPPC14 |
trafficking protein particle complex subunit 14 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,189,179...92,193,483
Ensembl chr 7:105,622,497...105,625,978
|
|
G |
TRIL |
TLR4 interactor with leucine rich repeats |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:29,596,977...29,600,989
Ensembl chr 7:29,192,063...29,194,498
|
|
G |
TRIM24 |
tripartite motif containing 24 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:130,420,334...130,547,489
Ensembl chr 7:142,909,009...143,036,526
|
|
G |
TRIM4 |
tripartite motif containing 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:91,923,877...91,953,038
Ensembl chr 7:105,357,234...105,386,405
|
|
G |
TRIM50 |
tripartite motif containing 50 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
|
|
G |
TRIM56 |
tripartite motif containing 56 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:93,225,830...93,231,127
Ensembl chr 7:106,469,474...106,471,741
|
|
G |
TRRAP |
transformation/transcription domain associated protein |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:90,845,518...90,981,700
Ensembl chr 7:104,351,320...104,486,722
|
|
G |
TSC1 |
TSC complex subunit 1 |
|
ISO |
mRNA:decreased expression:brain |
RGD |
PMID:16909113 |
RGD:11570509 |
NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759
|
|
G |
TSC22D4 |
TSC22 domain family member 4 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,495,407...92,508,204
Ensembl chr 7:105,896,307...105,909,967
|
|
G |
TSGA13 |
testis specific 13 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:122,633,095...122,651,841
Ensembl chr 7:135,150,077...135,168,413
|
|
G |
TSPAN12 |
tetraspanin 12 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:112,790,606...112,861,730
Ensembl chr 7:125,478,472...125,549,091
|
|
G |
TSPAN13 |
tetraspanin 13 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:17,410,398...17,441,224
Ensembl chr 7:16,736,690...16,767,282
|
|
G |
TSPAN33 |
tetraspanin 33 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:121,097,244...121,125,582
Ensembl chr 7:133,620,452...133,648,787
|
|
G |
TWIST1 |
twist family bHLH transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:19,761,041...19,765,665
|
|
G |
TYW1B |
tRNA-yW synthesizing protein 1 homolog B |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
|
|
G |
UBE2D4 |
ubiquitin conjugating enzyme E2 D4 (putative) |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:40,295,047...40,324,705
|
|
G |
UBE2H |
ubiquitin conjugating enzyme E2 H |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:121,796,629...121,917,981
Ensembl chr 7:134,318,166...134,437,295
|
|
G |
UBN2 |
ubinuclein 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:131,179,164...131,256,244
Ensembl chr 7:143,664,596...143,730,647
|
|
G |
UFSP1 |
UFM1 specific peptidase 1 (inactive) |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,913,749...92,914,766
Ensembl chr 7:106,310,436...106,310,864
|
|
G |
UPP1 |
uridine phosphorylase 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:48,729,975...48,749,598
Ensembl chr 7:48,838,893...48,858,185
|
|
G |
URGCP |
upregulator of cell proliferation |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:40,324,724...40,375,428
Ensembl chr 7:40,405,063...40,421,002
|
|
G |
VGF |
VGF nerve growth factor inducible |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:93,302,956...93,307,892
|
|
G |
VKORC1L1 |
vitamin K epoxide reductase complex subunit 1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:60,111,428...60,196,412
|
|
G |
VOPP1 |
VOPP1 WW domain binding protein |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:56,061,704...56,163,517
Ensembl chr 7:56,372,027...56,463,310
|
|
G |
VPS37D |
VPS37D subunit of ESCRT-I |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
Ensembl chr 7:80,798,226...80,824,883
|
|
G |
VPS41 |
VPS41 subunit of HOPS complex |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:39,355,578...39,543,281
Ensembl chr 7:39,590,587...39,776,937
|
|
G |
VPS50 |
VPS50 subunit of EARP/GARPII complex |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:85,188,960...85,315,452
Ensembl chr 7:98,786,809...98,908,113
|
|
G |
VSTM2A |
V-set and transmembrane domain containing 2A |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:55,136,669...55,168,379
Ensembl chr 7:55,447,878...55,477,148
|
|
G |
VWC2 |
von Willebrand factor C domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:50,412,363...50,562,837
Ensembl chr 7:50,661,384...50,800,814
|
|
G |
VWDE |
von Willebrand factor D and EGF domains |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:13,028,161...13,106,766
|
|
G |
WASL |
WASP like actin nucleation promoting factor |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:115,675,170...115,741,498
Ensembl chr 7:128,360,495...128,385,393
|
|
G |
WDR91 |
WD repeat domain 91 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:127,150,041...127,176,376
Ensembl chr 7:139,653,864...139,680,199
|
|
G |
WIPF3 |
WAS/WASL interacting protein family member 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:30,436,514...30,547,147
Ensembl chr 7:30,582,399...30,661,986
|
|
G |
WNT16 |
Wnt family member 16 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:113,338,322...113,354,002
Ensembl chr 7:126,025,337...126,041,057
|
|
G |
WNT2 |
Wnt family member 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:109,244,772...109,291,472
Ensembl chr 7:121,936,031...121,985,862
|
|
G |
YAE1 |
YAE1 maturation factor of ABCE1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:44,623,036...44,668,803
|
|
G |
YKT6 |
YKT6 v-SNARE homolog |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:44,915,181...44,928,001
Ensembl chr 7:44,982,748...44,994,183
|
|
G |
YWHAG |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:67,661,589...67,693,814
|
|
G |
ZAN |
zonadhesin |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,763,696...92,819,419
|
|
G |
ZC3HAV1 |
zinc finger CCCH-type containing, antiviral 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:131,002,580...131,068,513
Ensembl chr 7:143,489,750...143,555,438
|
|
G |
ZC3HAV1L |
zinc finger CCCH-type containing, antiviral 1 like |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:130,985,125...130,995,225
Ensembl chr 7:143,472,771...143,482,267
|
|
G |
ZC3HC1 |
zinc finger C3HC-type containing 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:121,983,549...122,018,106
Ensembl chr 7:134,502,334...134,536,401
|
|
G |
ZCWPW1 |
zinc finger CW-type and PWWP domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,429,776...92,457,943
Ensembl chr 7:105,832,031...105,859,995
|
|
G |
ZKSCAN1 |
zinc finger with KRAB and SCAN domains 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,050,741...92,080,554
Ensembl chr 7:105,484,185...105,502,895
|
|
G |
ZKSCAN5 |
zinc finger with KRAB and SCAN domains 5 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:91,476,962...91,507,469
Ensembl chr 7:104,979,816...105,009,236
|
|
G |
ZMIZ2 |
zinc finger MIZ-type containing 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:45,462,031...45,482,209
Ensembl chr 7:45,532,224...45,552,081
|
|
G |
ZNF273 |
zinc finger protein 273 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:61,327,900...61,361,686
|
|
G |
ZNF277 |
zinc finger protein 277 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:104,169,603...104,307,262
Ensembl chr 7:116,872,205...117,008,463
|
|
G |
ZNF3 |
zinc finger protein 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,099,029...92,117,656
Ensembl chr 7:105,533,692...105,551,026
|
|
G |
ZNF394 |
zinc finger protein 394 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:91,459,355...91,473,164
Ensembl chr 7:104,967,815...104,975,632
|
|
G |
ZNF655 |
zinc finger protein 655 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:91,531,547...91,549,581
Ensembl chr 7:105,033,721...105,051,724
|
|
G |
ZNF679 |
zinc finger protein 679 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:61,917,537...61,949,935
Ensembl chr 7:63,922,391...63,942,472
|
|
G |
ZNF680 |
zinc finger protein 680 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:61,630,914...61,693,217
|
|
G |
ZNF713 |
zinc finger protein 713 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:56,491,854...56,553,692
Ensembl chr 7:56,936,463...56,977,206
|
|
G |
ZNF716 |
zinc finger protein 716 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
|
|
G |
ZNF727 |
zinc finger protein 727 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:62,099,720...62,133,264
|
|
G |
ZNF735 |
zinc finger protein 735 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:61,958,133...61,971,175
Ensembl chr 7:63,882,348...63,896,811
|
|
G |
ZNF736 |
zinc finger protein 736 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:61,829,884...61,877,407
Ensembl chr 7:63,981,439...64,020,438
|
|
G |
ZNF789 |
zinc finger protein 789 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:91,445,941...91,460,617
Ensembl chr 7:104,947,827...104,978,649
|
|
G |
ZNF800 |
zinc finger protein 800 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:119,337,671...119,584,646
Ensembl chr 7:132,023,845...132,042,024
|
|
G |
ZNF804B |
zinc finger protein 804B |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:80,752,010...81,333,608
Ensembl chr 7:94,860,215...94,981,135
|
|
G |
ZNHIT1 |
zinc finger HIT-type containing 1 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:93,359,038...93,365,521
Ensembl chr 7:106,599,579...106,606,157
|
|
G |
ZNRF2 |
zinc and ring finger 2 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:30,922,235...31,006,950
|
|
G |
ZP3 |
zona pellucida glycoprotein 3 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:67,574,932...67,592,757
Ensembl chr 7:82,844,162...82,891,655
|
|
G |
ZPBP |
zona pellucida binding protein |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:50,576,485...50,735,411
Ensembl chr 7:50,826,058...50,981,644
|
|
G |
ZSCAN21 |
zinc finger and SCAN domain containing 21 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:92,084,976...92,100,291
Ensembl chr 7:105,518,803...105,533,944
|
|
G |
ZSCAN25 |
zinc finger and SCAN domain containing 25 |
|
ISO |
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma |
ClinVar |
PMID:28299358 |
|
NCBI chr 7:91,589,706...91,776,856
Ensembl chr 7:105,094,741...105,107,657
|
|
|
G |
BMP4 |
bone morphogenetic protein 4 |
|
ISO |
protein:increased expression:pituitary gland CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression:pituitary gland |
RGD CTD |
PMID:12552124 PMID:16809920 |
RGD:629544 |
NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752
|
|
G |
CEBPD |
CCAAT enhancer binding protein delta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21980073 |
|
NCBI chr 8:44,167,256...44,168,545
|
|
G |
HPGD |
15-hydroxyprostaglandin dehydrogenase |
|
ISO |
mRNA:decreased expression:pituitary gland |
RGD |
PMID:22580984 |
RGD:11667097 |
NCBI chr 4:166,716,386...166,749,225
Ensembl chr 4:178,949,137...178,982,910
|
|
G |
LRP2 |
LDL receptor related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Prolactinoma, familial |
ClinVar |
PMID:17632512 PMID:25682901 PMID:25741868 PMID:28492532 |
|
NCBI chr2B:56,407,871...56,640,471
Ensembl chr2B:173,873,767...174,103,697
|
|
G |
MEN1 |
menin 1 |
|
ISO |
OMIM:600634 |
MouseDO |
|
|
NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164
|
|
G |
MYC |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
mRNA:increased expression:pituitary gland (rat) |
RGD |
PMID:22635680 |
RGD:7240531 |
NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
|
|
G |
NOG |
noggin |
|
ISO |
mRNA, protein:decreased expression:pituitary |
RGD |
PMID:12552124 |
RGD:629544 |
NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092
|
|
G |
NPY5R |
neuropeptide Y receptor Y5 |
|
ISO |
protein:increased expression:pars anterior |
RGD |
PMID:11026575 |
RGD:1625506 |
NCBI chr 4:155,603,739...155,612,302
|
|
G |
PRL |
prolactin |
sexual_dimorphism |
ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:blood serum (human) mRNA:increased expression:pituitary gland |
CTD RGD |
PMID:718334 PMID:1407345 PMID:3776530 PMID:9617019 PMID:12124824 PMID:16029648 PMID:17260475 More...
|
RGD:1642576 RGD:401960111 RGD:401976454 |
NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829
|
|
G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
mRNA:increased expression:pituitary gland |
RGD |
PMID:22580984 |
RGD:11667097 |
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
|
|
|
G |
BMPR2 |
bone morphogenetic protein receptor type 2 |
|
ISO |
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis |
ClinVar |
PMID:18626305 PMID:24292273 |
|
NCBI chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072
|
|
G |
EIF2AK4 |
eukaryotic translation initiation factor 2 alpha kinase 4 |
|
ISO |
ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis |
OMIM ClinVar |
PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 PMID:25512148 PMID:25741868 PMID:26387786 PMID:27684876 PMID:28492532 PMID:28972005 PMID:29743074 PMID:30285736 PMID:31711431 PMID:32581362 More...
|
|
NCBI chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211
|
|
|
G |
ATP7B |
ATPase copper transporting beta |
|
ISO |
|
RGD |
PMID:11509115 |
RGD:1302456 |
NCBI chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839
|
|
|
G |
FLCN |
folliculin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12204536 |
|
NCBI chr17:34,057,127...34,081,637
Ensembl chr17:38,988,518...39,013,160
|
|
|
G |
PITX2 |
paired like homeodomain 2 |
|
ISO |
ClinVar Annotator: match by term: Ring dermoid of cornea |
OMIM ClinVar |
PMID:15378534 PMID:15591271 PMID:22569110 PMID:25741868 PMID:26220699 PMID:28492532 PMID:29664915 PMID:32499604 PMID:35882526 More...
|
|
NCBI chr 4:103,112,624...103,137,356
|
|
|
G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
|
ISO |
DNA:deletion |
RGD |
PMID:20065947 |
RGD:7248760 |
NCBI chr 9:21,803,862...21,831,322
|
|
|
G |
LZTR1 |
leucine zipper like post translational regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Schwannomatosis |
ClinVar |
PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 PMID:27921248 PMID:28492532 PMID:29384852 PMID:29409008 PMID:29469822 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30859559 PMID:31130284 PMID:31182298 PMID:31219622 PMID:32371905 More...
|
|
NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007
|
|
G |
SMARCB1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
|
ISO |
ClinVar Annotator: match by term: Neurilemmomatosis congenital cutaneous | ClinVar Annotator: match by term: Schwannomatosis |
ClinVar |
PMID:10521299 PMID:18647326 PMID:21208904 PMID:22434358 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921
|
|
|
G |
NF2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Schwannomatosis 1 |
ClinVar |
PMID:7798645 PMID:9399891 PMID:25741868 |
|
NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013
|
|
G |
SMARCB1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
|
ISO |
ClinVar Annotator: match by term: Schwannomatosis 1 | ClinVar Annotator: match by term: Schwannomatosis 1, somatic |
ClinVar OMIM |
PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 PMID:19124645 PMID:19582488 PMID:20930055 PMID:21255467 PMID:22038540 PMID:22434358 PMID:22949514 PMID:24362817 PMID:24728327 PMID:24740647 PMID:24933152 PMID:25631985 PMID:25741868 PMID:26073604 PMID:28492532 PMID:29409008 PMID:29517885 PMID:34747535 More...
|
|
NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921
|
|
|
G |
LZTR1 |
leucine zipper like post translational regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Schwannomatosis 2 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23917401 PMID:23999291 PMID:24033266 PMID:24362817 PMID:24448499 PMID:25008767 PMID:25303977 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 PMID:26260516 PMID:26803811 PMID:26901136 PMID:27921248 PMID:28017249 PMID:28121514 PMID:28135719 PMID:28191889 PMID:28295212 PMID:28492532 PMID:28749478 PMID:29346770 PMID:29384852 PMID:29409008 PMID:29469822 PMID:29489754 PMID:30006736 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30504930 PMID:30564305 PMID:30664951 PMID:30665374 PMID:30732632 PMID:30859559 PMID:31128261 PMID:31130284 PMID:31155615 PMID:31182298 PMID:31219622 PMID:31370276 PMID:31438995 PMID:31475041 PMID:31533111 PMID:31825158 PMID:31883238 PMID:31980526 PMID:32004086 PMID:32041611 PMID:32371905 PMID:32443592 PMID:32623905 PMID:32981126 PMID:33128510 PMID:33219631 PMID:33258288 PMID:33407364 PMID:33413596 PMID:33792302 PMID:33897756 PMID:34113392 PMID:34184824 PMID:34401172 PMID:34645488 PMID:35258168 PMID:35352813 PMID:35391499 PMID:35453828 PMID:35638454 PMID:35726512 PMID:35806449 PMID:35979676 PMID:36113475 More...
|
|
NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007
|
|
|
G |
ANXA1 |
annexin A1 |
|
ISO |
|
RGD |
PMID:8919037 |
RGD:7421562 |
NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779
|
|
G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Keratosis Seborrheica |
ClinVar |
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8640234 PMID:8858131 PMID:9438390 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11241532 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16841094 PMID:17384684 PMID:18642369 PMID:19381019 PMID:19749790 PMID:20301540 PMID:20420824 PMID:22045636 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28492532 More...
|
|
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
|
|
G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Keratosis Seborrheica | ClinVar Annotator: match by term: Seborrheic keratosis |
OMIM ClinVar |
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:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29661094 PMID:29988677 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 PMID:37712948 More...
|
|
NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
|
|
|
G |
DAXX |
death domain associated protein |
|
ISO |
protein:increased expression:ovary: |
RGD |
PMID:23539629 |
RGD:9587820 |
NCBI chr 6:32,890,846...32,895,307
Ensembl chr 6:34,004,543...34,008,717
|
|
|
G |
RNF43 |
ring finger protein 43 |
|
ISO |
ClinVar Annotator: match by term: RNF43-related condition | ClinVar Annotator: match by term: Sessile serrated polyposis cancer syndrome |
OMIM ClinVar |
PMID:22552244 PMID:24512911 PMID:25741868 PMID:27081527 PMID:27582512 PMID:28492532 PMID:28767289 PMID:29330307 PMID:35907983 More...
|
|
NCBI chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748
|
|
|
G |
GJA4 |
gap junction protein alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Skin hemangioma |
ClinVar |
PMID:33912852 |
|
NCBI chr 1:34,059,901...34,063,181
|
|
|
G |
CCL20 |
C-C motif chemokine ligand 20 |
|
ISO |
protein:decreased expression:skin |
RGD |
PMID:21715145 |
RGD:7483622 |
NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
|
|
G |
CLU |
clusterin |
|
ISO |
|
RGD |
PMID:11085517 |
RGD:8746700 |
NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
|
|
G |
FGF10 |
fibroblast growth factor 10 |
|
ISO |
protein:increased expression:skin (mouse) |
RGD |
PMID:24582960 |
RGD:126928134 |
NCBI chr 5:65,979,443...66,069,314
Ensembl chr 5:71,028,187...71,111,706
|
|
G |
NRG1 |
neuregulin 1 |
|
ISO |
DNA:hypermethylation: |
RGD |
PMID:31892232 |
RGD:39456089 |
NCBI chr 8:30,954,852...32,084,411
Ensembl chr 8:29,050,222...29,263,977
|
|
G |
TLR2 |
toll like receptor 2 |
|
ISO |
protein:increased expression,altered expression:cytoplasm,membrane, nucleus: |
RGD |
PMID:24617037 |
RGD:8553046 |
NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
|
|
|
G |
CTCF |
CCCTC-binding factor |
|
ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:27974201 |
RGD:151356739 |
NCBI chr16:47,906,503...47,983,271
Ensembl chr16:67,302,952...67,372,041
|
|
G |
DDX5 |
DEAD-box helicase 5 |
|
ISO |
protein:increased expression:foreskin (human) |
RGD |
PMID:22548649 |
RGD:9850272 |
NCBI chr17:58,594,956...58,603,570
Ensembl chr17:63,689,082...63,696,142
|
|
G |
FAT1 |
FAT atypical cadherin 1 |
disease_progression |
ISO |
associated with Neoplasm Metastasis |
RGD |
PMID:33328637 |
RGD:151347447 |
NCBI chr 4:178,752,261...178,895,038
Ensembl chr 4:190,952,737...191,093,357
|
|
G |
FGF10 |
fibroblast growth factor 10 |
|
ISO |
protein:increased expression:skin (mouse) |
RGD |
PMID:24582960 |
RGD:126928134 |
NCBI chr 5:65,979,443...66,069,314
Ensembl chr 5:71,028,187...71,111,706
|
|
G |
KNSTRN |
kinetochore localized astrin (SPAG5) binding protein |
|
ISO |
DNA:mutation:cds: p.Ala40Glu (human) DNA:mutation:cds: p.Ser24Phe(human) |
RGD |
PMID:25194279 PMID:30972880 |
RGD:28867225 RGD:28867226 |
NCBI chr15:19,316,854...19,328,425
|
|
G |
PTEN |
phosphatase and tensin homolog |
ameliorates |
ISO |
|
RGD |
PMID:24582960 |
RGD:126928134 |
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
|
|
|
G |
LHCGR |
luteinizing hormone/choriogonadotropin receptor |
|
ISO |
ClinVar Annotator: match by term: Leydig cell adenoma, somatic, with male-limited precocious puberty |
ClinVar |
PMID:10580072 PMID:11857565 |
|
NCBI chr2A:48,808,822...48,879,021
Ensembl chr2A:49,729,002...49,798,780
|
|
|
G |
ARAF |
A-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:24569458 PMID:26619011 |
|
NCBI chr X:39,997,026...40,007,783
Ensembl chr X:47,893,153...47,904,643
|
|
G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
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:24033266 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24446311 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28492532 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 PMID:34476331 More...
|
|
NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
|
|
G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:25741868 PMID:26619011 PMID:28492532 |
|
NCBI chr 9:21,803,862...21,831,322
|
|
G |
ERBB2 |
erb-b2 receptor tyrosine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:18413839 PMID:22046346 PMID:23220880 PMID:25157968 PMID:26619011 |
|
NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
|
|
G |
FBXW7 |
F-box and WD repeat domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:26619011 |
|
NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
|
|
G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:8589699 PMID:8845844 PMID:9438390 PMID:9843049 PMID:10471491 PMID:11038465 PMID:11429702 PMID:11879084 PMID:15772091 PMID:17384684 PMID:19088846 PMID:19331127 PMID:19381019 PMID:19749790 PMID:20301540 PMID:20542753 PMID:21273588 PMID:22869148 PMID:23200862 PMID:24419316 PMID:24476948 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28249712 PMID:28492532 PMID:29593476 PMID:30692697 PMID:31299979 More...
|
|
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
|
|
G |
HRAS |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:33372952 PMID:34008892 More...
|
|
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
|
|
G |
LRRC56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:33372952 PMID:34008892 More...
|
|
NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
|
|
G |
MTOR |
mechanistic target of rapamycin kinase |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:20190810 PMID:24631838 PMID:25741868 PMID:26018084 PMID:26619011 PMID:27159400 PMID:27830187 More...
|
|
NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
|
|
G |
MYC |
MYC proto-oncogene, bHLH transcription factor |
severity |
ISO |
mRNA:increased expression:renal cortex (human) protein:increased expression:kidney (human) |
RGD |
PMID:17409424 PMID:19384955 |
RGD:7240562 RGD:7240563 |
NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
|
|
G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24559322 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26851524 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29446767 PMID:29661094 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34496175 PMID:37712948 More...
|
|
NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
|
|
G |
RHEB |
Ras homolog, mTORC1 binding |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:26619011 |
|
NCBI chr 7:143,054,747...143,108,011
|
|
G |
TP53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic |
ClinVar |
PMID:1565143 PMID:7887414 PMID:8023157 PMID:8118819 PMID:8242631 PMID:8401536 PMID:8633021 PMID:9242456 PMID:9627118 PMID:9662334 PMID:10432928 PMID:10589545 PMID:10922393 PMID:11139324 PMID:11668501 PMID:11782540 PMID:12826609 PMID:14559903 PMID:15037740 PMID:15977174 PMID:16312222 PMID:16818505 PMID:16861262 PMID:17015838 PMID:17308077 PMID:17390010 PMID:17606709 PMID:18307025 PMID:19101993 PMID:19367569 PMID:19556618 PMID:20028212 PMID:20128691 PMID:20234365 PMID:20308654 PMID:20407015 PMID:20593220 PMID:20805372 PMID:21056685 PMID:21118481 PMID:21343334 PMID:21356188 PMID:21483000 PMID:21514416 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22265402 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22915647 PMID:22923379 PMID:23031740 PMID:23246812 PMID:23259501 PMID:23484829 PMID:23630318 PMID:24065105 PMID:24381225 PMID:24487413 PMID:24603336 PMID:24641375 PMID:24702488 PMID:24744791 PMID:25256166 PMID:25404506 PMID:25584008 PMID:25741868 PMID:25945745 PMID:25952993 PMID:26230955 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26911350 PMID:27189670 PMID:27276561 PMID:27328919 PMID:27463065 PMID:27680515 PMID:27714481 PMID:27873457 PMID:27895058 PMID:27959731 PMID:28279309 PMID:28356770 PMID:28369373 PMID:28492532 PMID:28724667 PMID:28975465 PMID:29070607 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30327374 PMID:30730202 PMID:30816478 PMID:31105275 PMID:31300551 PMID:31775759 PMID:32475984 PMID:32817165 PMID:33087929 PMID:33300245 PMID:33471991 PMID:33674644 PMID:36988593 More...
|
|
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
|
|
|
G |
ADAM19 |
ADAM metallopeptidase domain 19 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr 5:152,839,326...152,972,741
Ensembl chr 5:159,494,786...159,593,171
|
|
G |
ADAMTSL3 |
ADAMTS like 3 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr15:61,567,731...61,953,255
Ensembl chr15:81,538,868...81,920,292
|
|
G |
AFAP1L2 |
actin filament associated protein 1 like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29059373 |
|
NCBI chr10:110,894,774...111,004,373
Ensembl chr10:114,324,736...114,434,148
|
|
G |
AKT1 |
AKT serine/threonine kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
|
|
G |
ANXA1 |
annexin A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:8919037 PMID:15274141 |
RGD:7421562 |
NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779
|
|
G |
ANXA2 |
annexin A2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15274141 |
|
NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250
|
|
G |
ANXA5 |
annexin A5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15274141 |
|
NCBI chr 4:113,868,218...113,897,243
Ensembl chr 4:125,006,038...125,034,972
|
|
G |
APC |
APC regulator of WNT signaling pathway |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709
|
|
G |
APOBEC3B |
apolipoprotein B mRNA editing enzyme catalytic subunit 3B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23852168 |
|
NCBI chr22:19,892,548...19,902,455
Ensembl chr22:37,711,588...37,721,265
|
|
G |
AQP3 |
aquaporin 3 (Gill blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21401805 |
|
NCBI chr 9:33,221,989...33,228,469
Ensembl chr 9:34,032,983...34,039,438
|
|
G |
AREG |
amphiregulin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11237771 |
|
NCBI chr 4:49,737,191...49,747,013
Ensembl chr 4:55,570,299...55,580,142
|
|
G |
ATM |
ATM serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25125259 |
|
NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
|
|
G |
BCL2 |
BCL2 apoptosis regulator |
disease_progression |
ISO |
Protein:increased expression:tongue;associated with mouth neoplasms |
RGD |
PMID:16309543 |
RGD:1599477 |
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
|
|
G |
BIRC5 |
baculoviral IAP repeat containing 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26432044 |
|
NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159
|
|
G |
CAV1 |
caveolin 1 |
|
ISO |
|
RGD |
PMID:23267770 |
RGD:8661786 |
NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
|
|
G |
CCL2 |
C-C motif chemokine ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25199511 |
|
NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
|
|
G |
CCND1 |
cyclin D1 |
susceptibility |
ISO |
associated with Cervix Neoplasms;DNA:polymorphism: :870A>G CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:18548202 PMID:26432044 |
RGD:2296032 |
NCBI chr11:64,737,006...64,750,353
|
|
G |
CD163 |
CD163 molecule |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023
|
|
G |
CDH1 |
cadherin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17520682 |
|
NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
|
|
G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
disease_progression |
ISO |
associated with Varicose Ulcer;protein:increased expression:skin: |
RGD |
PMID:9655223 PMID:11028856 |
RGD:8662356 RGD:8662856 |
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
|
|
G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
|
ISO |
DNA:transitions: :multiple CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:15057871 PMID:25125259 |
RGD:8552295 |
NCBI chr 9:21,803,862...21,831,322
|
|
G |
CDKN2B |
cyclin dependent kinase inhibitor 2B |
|
ISO |
protein:decreased expression:skin |
RGD |
PMID:18564286 |
RGD:8548686 |
NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156
|
|
G |
CEBPA |
CCAAT enhancer binding protein alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17510391 PMID:21346772 |
|
NCBI chr19:30,223,567...30,226,204
|
|
G |
CFH |
complement factor H |
|
ISO |
mRNA:increased expression:skin |
RGD |
PMID:23938460 |
RGD:8662319 |
NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521
|
|
G |
CHRNA3 |
cholinergic receptor nicotinic alpha 3 subunit |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr15:57,523,553...57,550,228
Ensembl chr15:76,487,710...76,512,044
|
|
G |
CHRNA5 |
cholinergic receptor nicotinic alpha 5 subunit |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr15:57,493,730...57,530,463
Ensembl chr15:76,455,165...76,486,376
|
|
G |
CLDN1 |
claudin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33665778 |
|
NCBI chr 3:187,328,629...187,345,360
Ensembl chr 3:195,882,239...195,899,248
|
|
G |
CLU |
clusterin |
severity |
ISO |
|
RGD |
PMID:15126350 |
RGD:8936706 |
NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
|
|
G |
CREBBP |
CREB binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27158780 |
|
NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
|
|
G |
CRYAB |
crystallin alpha B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15274141 |
|
NCBI chr11:106,795,406...106,800,019
Ensembl chr11:110,639,442...110,644,272
|
|
G |
CSNK2A1 |
casein kinase 2 alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18572023 |
|
NCBI chr20:689,494...752,092
Ensembl chr20:456,629...521,126
|
|
G |
CSNK2A2 |
casein kinase 2 alpha 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18572023 |
|
NCBI chr16:38,426,399...38,466,575
Ensembl chr16:57,557,270...57,596,218
|
|
G |
CSNK2B |
casein kinase 2 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18572023 |
|
NCBI chr 6:31,327,250...31,331,250
|
|
G |
CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
susceptibility |
ISO |
DNA:SNP: :rs3087243(human) |
RGD |
PMID:19622768 |
RGD:7411686 |
NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
|
|
G |
CTTN |
cortactin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27148699 |
|
NCBI chr11:65,500,074...65,539,158
Ensembl chr11:68,794,162...68,823,857
|
|
G |
CXCL8 |
C-X-C motif chemokine ligand 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15956251 |
|
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
|
|
G |
CYP1A2 |
cytochrome P450 family 1 subfamily A member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22072123 |
|
NCBI chr15:53,692,877...53,699,279
Ensembl chr15:73,311,720...73,319,447
|
|
G |
CYP1B1 |
cytochrome P450 family 1 subfamily B member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22114726 |
|
NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824
|
|
G |
DDR2 |
discoidin domain receptor tyrosine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:18938156 PMID:22328973 PMID:23932362 |
|
NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766
|
|
G |
DSPP |
dentin sialophosphoprotein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21103065 |
|
NCBI chr 4:79,903,923...79,909,836
|
|
G |
DUSP1 |
dual specificity phosphatase 1 |
|
ISO |
mRNA:increased expression:saliva |
RGD |
PMID:23892499 |
RGD:7771538 |
NCBI chr 5:168,121,536...168,124,671
Ensembl chr 5:175,032,803...175,035,960
|
|
G |
EGFR |
epidermal growth factor receptor |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:25157968 PMID:27993330 |
|
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
|
|
G |
EGR1 |
early growth response 1 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260
|
|
G |
ENO1 |
enolase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15274141 |
|
NCBI chr 1:7,619,490...7,637,558
Ensembl chr 1:8,855,074...8,873,215
|
|
G |
EP300 |
E1A binding protein p300 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27158780 |
|
NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
|
|
G |
ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17687452 |
|
NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
|
|
G |
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
severity |
ISO |
associated with Cockayne Syndrome |
RGD |
PMID:9150142 |
RGD:10401099 |
NCBI chr10:44,703,720...44,784,948
|
|
G |
FAM13A |
family with sequence similarity 13 member A |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr 4:81,015,773...81,400,333
Ensembl chr 4:91,739,953...92,067,415
|
|
G |
FAS |
Fas cell surface death receptor |
|
ISO |
ClinVar Annotator: match by term: SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC |
ClinVar |
PMID:10620127 |
|
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
|
|
G |
FGF7 |
fibroblast growth factor 7 |
|
ISO |
cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells |
RGD |
PMID:17306351 |
RGD:2289084 |
NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163
|
|
G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22286583 PMID:27794399 |
|
NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904
|
|
G |
FGFR2 |
fibroblast growth factor receptor 2 |
|
ISO |
cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells |
RGD |
PMID:17306351 |
RGD:2289084 |
NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815
|
|
G |
FHIT |
fragile histidine triad diadenosine triphosphatase |
|
ISO |
cervical squamous cell carcinoma; DNA:hypermethylation,loss of heterozygosity:promoter,locus:hypermethylation in 24%, LOH in 10% of tumors |
RGD |
PMID:17467893 |
RGD:2289871 |
NCBI chr 3:59,670,777...61,177,974
|
|
G |
FLT1 |
fms related receptor tyrosine kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr13:9,584,850...9,779,542
|
|
G |
FOXA1 |
forkhead box A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32717239 |
|
NCBI chr14:18,347,284...18,352,705
|
|
G |
FOXP2 |
forkhead box P2 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr 7:106,040,118...106,648,741
Ensembl chr 7:119,077,332...119,343,893
|
|
G |
GAPDH |
glyceraldehyde-3-phosphate dehydrogenase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15274141 |
|
NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729
|
|
G |
GPX1 |
glutathione peroxidase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15557674 |
|
NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
|
|
G |
GREP1 |
glycine rich extracellular protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34652879 |
|
|
|
G |
GSTM1 |
glutathione S-transferase mu 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22072123 |
|
Ensembl chr 1:127,979,238...128,010,411
|
|
G |
GSTP1 |
glutathione S-transferase pi 1 |
|
ISO |
|
RGD |
PMID:11511301 |
RGD:6906882 |
NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
|
|
G |
HCAR2 |
hydroxycarboxylic acid receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21655214 |
|
NCBI chr12:120,305,297...120,308,463
|
|
G |
HDAC1 |
histone deacetylase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21527555 |
|
NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410
|
|
G |
HDAC2 |
histone deacetylase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21527555 |
|
NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004
|
|
G |
HGF |
hepatocyte growth factor |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21273587 |
|
NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
|
|
G |
HRAS |
HRas proto-oncogene, GTPase |
|
ISO |
associated with Xeroderma Pigmentosum;missense mutations:cds:pG12V, pQ61H (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:8453633 PMID:24224046 PMID:25125259 |
RGD:10412316 |
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
|
|
G |
HSPA8 |
heat shock protein family A (Hsp70) member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15274141 |
|
NCBI chr11:117,890,545...117,895,262
Ensembl chr11:121,809,800...121,815,773
|
|
G |
HSPB1 |
heat shock protein family B (small) member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15274141 |
|
NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984
|
|
G |
HTR4 |
5-hydroxytryptamine receptor 4 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr 5:143,918,925...144,208,779
Ensembl chr 5:149,889,969...150,108,357
|
|
G |
IL2 |
interleukin 2 |
treatment |
ISO |
|
RGD |
PMID:11023201 |
RGD:8663457 |
NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
|
|
G |
IL6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26372664 |
|
NCBI chr 7:23,415,922...23,420,767
|
|
G |
ING1 |
inhibitor of growth family member 1 |
|
ISO |
squamous cell carcinoma of the head and neck, OMIM:275355 DNA:point_mutation:CDS:G->C in exon 2, amino acid cys215ser |
RGD |
PMID:10866301 |
RGD:1600155 |
NCBI chr13:91,849,153...91,856,943
Ensembl chr13:110,963,405...110,970,691
|
|
G |
INPP5A |
inositol polyphosphate-5-phosphatase A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25759212 |
|
Ensembl chr10:133,437,718...133,681,116
|
|
G |
IRAK1 |
interleukin 1 receptor associated kinase 1 |
disease_progression |
ISO |
|
RGD |
PMID:24302991 |
RGD:7495785 |
NCBI chr X:143,560,802...143,570,185
Ensembl chr X:153,446,827...153,460,602
|
|
G |
ITGA5 |
integrin subunit alpha 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21401805 |
|
NCBI chr12:34,326,182...34,350,050
Ensembl chr12:35,052,994...35,075,835
|
|
G |
ITGB1 |
integrin subunit beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21401805 |
|
NCBI chr10:33,023,573...33,081,384
Ensembl chr10:33,608,978...33,644,031
|
|
G |
IVL |
involucrin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18572023 |
|
NCBI chr 1:128,254,139...128,256,893
|
|
G |
KDR |
kinase insert domain receptor |
|
ISO |
|
RGD |
PMID:16251423 |
RGD:8551848 |
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
|
|
G |
KITLG |
KIT ligand |
|
ISO |
Squamous cell carcinoma of the digit |
OMIA |
PMID:1399782 PMID:2800263 PMID:6354679 PMID:6731733 PMID:7657570 PMID:16231717 PMID:17609360 PMID:23555311 PMID:24936030 PMID:26699508 PMID:36851392 PMID:36851451 More...
|
|
NCBI chr12:86,036,501...86,124,274
Ensembl chr12:89,341,921...89,436,758
|
|
G |
KLF5 |
KLF transcription factor 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27158780 |
|
|
|
G |
KMT2C |
lysine methyltransferase 2C |
severity |
ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:25303977 |
RGD:9588232 |
NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043
|
|
G |
KNSTRN |
kinetochore localized astrin (SPAG5) binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25194279 |
|
NCBI chr15:19,316,854...19,328,425
|
|
G |
KRAS |
KRAS proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19435901 PMID:25125259 |
|
NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
|
|
G |
KRT10 |
keratin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18572023 |
|
NCBI chr17:16,461,624...16,466,136
Ensembl chr17:16,686,898...16,690,415
|
|
G |
LGR6 |
leucine rich repeat containing G protein-coupled receptor 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28945253 |
|
NCBI chr 1:177,789,079...177,917,234
Ensembl chr 1:182,101,420...182,214,825
|
|
G |
LOC100970659 |
keratin, type II cytoskeletal 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18572023 |
|
NCBI chr12:36,083,858...36,089,521
Ensembl chr12:36,861,585...36,866,725
|
|
G |
LOC100972354 |
interferon alpha-2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17172406 |
|
NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736
|
|
G |
LOC100975309 |
keratin, type I cytoskeletal 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16543248 |
|
NCBI chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191
|
|
G |
LOC100986398 |
hydroxycarboxylic acid receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21655214 |
|
NCBI chr12:120,318,905...120,322,068
Ensembl chr12:124,553,940...124,555,103
|
|
G |
LOC103783749 |
keratin, type II cytoskeletal 6B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15274141 |
|
NCBI chr12:36,312,149...36,317,586
Ensembl chr12:37,089,376...37,094,087
|
|
G |
LORICRIN |
loricrin cornified envelope precursor protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18572023 |
|
NCBI chr 1:128,607,506...128,608,808
|
|
G |
LTA4H |
leukotriene A4 hydrolase |
|
ISO |
protein:increased expression:tongue, carcinoma, stroma (rat) |
RGD |
PMID:17985342 |
RGD:2316582 |
NCBI chr12:93,589,758...93,624,529
Ensembl chr12:96,978,203...97,012,427
|
|
G |
LZTS1 |
leucine zipper tumor suppressor 1 |
|
ISO |
esophageal squamous cell carcinoma, OMIM:133239 |
RGD |
PMID:10097140 |
RGD:1600104 |
NCBI chr 8:19,471,361...19,529,437
Ensembl chr 8:16,418,496...16,476,111
|
|
G |
MAL |
mal, T cell differentiation protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19445022 |
|
NCBI chr2A:104,355,020...104,382,849
Ensembl chr2A:95,930,315...95,956,573
|
|
G |
MANF |
mesencephalic astrocyte derived neurotrophic factor |
susceptibility |
ISO |
|
RGD |
PMID:8971156 |
RGD:1599219 |
NCBI chr 3:51,315,948...51,320,022
Ensembl chr 3:52,548,933...52,554,343
|
|
G |
MAPK1 |
mitogen-activated protein kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21401805 |
|
NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
|
|
G |
MAPK3 |
mitogen-activated protein kinase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21401805 |
|
Ensembl chr16:30,489,362...30,498,017
|
|
G |
MET |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22948846 |
|
NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
|
|
G |
MLH1 |
mutL homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
|
|
G |
MMP2 |
matrix metallopeptidase 2 |
|
ISO |
protein:increased expression:nasal mucosa |
RGD |
PMID:21624249 |
RGD:8657057 |
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
|
|
G |
MMP9 |
matrix metallopeptidase 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:middle ear protein:increased expression:nasal mucosa mRNA:increased expression:tongue |
CTD RGD |
PMID:11081634 PMID:18254958 PMID:18572023 PMID:21624249 PMID:22178867 |
RGD:8547836 RGD:8547854 RGD:8547895 RGD:8657057 |
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
|
|
G |
MRPL13 |
mitochondrial ribosomal protein L13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15274141 |
|
NCBI chr 8:117,087,845...117,135,142
Ensembl chr 8:119,856,492...119,903,642
|
|
G |
MS4A1 |
membrane spanning 4-domains A1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22514692 |
|
NCBI chr11:55,691,750...55,706,697
Ensembl chr11:59,134,617...59,149,521
|
|
G |
MT1X |
metallothionein 1X |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16543248 |
|
NCBI chr16:36,959,854...36,961,632
Ensembl chr16:56,092,218...56,093,976
|
|
G |
MTHFR |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
DNA:transition:cds:g.677C>T (human) |
RGD |
PMID:17627246 |
RGD:6893580 |
NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
|
|
G |
MUC5AC |
mucin 5AC, oligomeric mucus/gel-forming |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr11:1,191,223...1,234,373
|
|
G |
MYC |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26432044 |
|
NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
|
|
G |
NCOA3 |
nuclear receptor coactivator 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20852035 |
|
NCBI chr20:43,838,227...43,992,407
Ensembl chr20:45,000,422...45,073,549
|
|
G |
NFE2L2 |
NFE2 like bZIP transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18572023 |
|
NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
|
|
G |
NKX2-1 |
NK2 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
|
|
G |
NLRP3 |
NLR family pyrin domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216
|
|
G |
NME1 |
NME/NM23 nucleoside diphosphate kinase 1 |
severity |
ISO |
protein:decreased expression:tumor (human) |
RGD |
PMID:8978595 |
RGD:5133245 |
NCBI chr17:45,243,588...45,252,135
Ensembl chr17:50,113,622...50,131,636
|
|
G |
NOTCH1 |
notch receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27923803 |
|
NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
|
|
G |
NOTCH2 |
notch receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27923803 |
|
NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840
|
|
G |
NOTCH3 |
notch receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27923803 |
|
NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
|
|
G |
NOTCH4 |
notch receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27923803 |
|
NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978
|
|
G |
OCA2 |
OCA2 melanosomal transmembrane protein |
susceptibility |
ISO |
DNA:missense mutation:cds:p.A481T (rs74653330) (human) |
RGD |
PMID:24617981 |
RGD:9491831 |
NCBI chr15:1,811,728...2,192,018
Ensembl chr15:25,181,386...25,523,774
|
|
G |
OGG1 |
8-oxoguanine DNA glycosylase |
|
ISO |
|
RGD |
PMID:16024598 |
RGD:8657138 |
NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335
|
|
G |
PGAM1 |
phosphoglycerate mutase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15274141 |
|
NCBI chr10:94,048,829...94,056,082
Ensembl chr10:97,542,558...97,549,867
|
|
G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24224046 |
|
NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
|
|
G |
PLAU |
plasminogen activator, urokinase |
severity |
ISO |
mRNA:increased expression:oral cavity (human) |
RGD |
PMID:12866027 |
RGD:7241134 |
NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136
|
|
G |
PPIA |
peptidylprolyl isomerase A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15274141 |
|
NCBI chr 7:45,510,450...45,515,448
Ensembl chr 7:45,578,765...45,605,545
|
|
G |
PRKDC |
protein kinase, DNA-activated, catalytic subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25125259 |
|
NCBI chr 8:44,201,391...44,386,803
Ensembl chr 8:41,593,029...41,778,299
|
|
G |
PRTFDC1 |
phosphoribosyl transferase domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17599052 |
|
NCBI chr10:25,023,015...25,127,770
Ensembl chr10:25,393,227...25,497,054
|
|
G |
PTEN |
phosphatase and tensin homolog |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
|
|
G |
PTGER1 |
prostaglandin E receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21739481 |
|
NCBI chr19:14,035,876...14,038,812
|
|
G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16543248 PMID:18202791 |
|
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
|
|
G |
PTK2 |
protein tyrosine kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:21401805 PMID:25199511 |
|
NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898
|
|
G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26432044 |
|
NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
|
|
G |
PYCARD |
PYD and CARD domain containing |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16778195 |
|
NCBI chr16:23,764,386...23,765,732
Ensembl chr16:31,571,363...31,573,828
|
|
G |
RACK1 |
receptor for activated C kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15274141 |
|
NCBI chr 5:176,462,991...176,470,153
Ensembl chr 5:183,712,665...183,720,128
|
|
G |
RAD52 |
RAD52 homolog, DNA repair protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26013599 |
|
NCBI chr12:986,372...1,066,708
Ensembl chr12:946,825...985,668
|
|
G |
RARB |
retinoic acid receptor beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17549354 |
|
NCBI chr 3:24,729,220...25,499,187
Ensembl chr 3:25,660,922...25,833,297
|
|
G |
RASA1 |
RAS p21 protein activator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27158780 |
|
NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321
|
|
G |
RB1 |
RB transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
|
|
G |
RIN3 |
Ras and Rab interactor 3 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr14:73,148,000...73,322,798
Ensembl chr14:92,488,770...92,662,415
|
|
G |
RIPK1 |
receptor interacting serine/threonine kinase 1 |
|
ISO |
|
RGD |
PMID:19778795 |
RGD:7777170 |
NCBI chr 6:2,893,802...2,943,162
Ensembl chr 6:2,997,343...3,045,078
|
|
G |
RNF168 |
ring finger protein 168 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34873829 |
|
NCBI chr 3:193,814,785...193,848,620
Ensembl chr 3:203,756,589...203,790,687
|
|
G |
RNF6 |
ring finger protein 6 |
|
ISO |
|
RGD |
PMID:12154016 |
RGD:1599613 |
NCBI chr13:7,505,669...7,515,542
Ensembl chr13:25,854,765...25,864,629
|
|
G |
ROS1 |
ROS proto-oncogene 1, receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr 6:115,095,753...115,234,525
Ensembl chr 6:119,238,419...119,376,053
|
|
G |
RPE65 |
retinoid isomerohydrolase RPE65 |
|
ISO |
mRNA:decreased expression:skin (human) |
RGD |
PMID:16181461 |
RGD:9495923 |
NCBI chr 1:67,666,784...67,687,891
Ensembl chr 1:69,623,775...69,644,904
|
|
G |
SEM1 |
SEM1, 26S proteasome complex subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18922899 |
|
NCBI chr 7:88,647,366...88,668,476
|
|
G |
SERPINA1 |
serpin family A member 1 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419
|
|
G |
SFN |
stratifin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15274141 |
|
NCBI chr 1:26,126,212...26,127,761
Ensembl chr 1:27,182,834...27,183,580
|
|
G |
SIRT3 |
sirtuin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21472714 |
|
NCBI chr11:210,052...233,969
Ensembl chr11:255,191...278,732
|
|
G |
SLC45A2 |
solute carrier family 45 member 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19578363 |
|
NCBI chr 5:76,357,549...76,398,571
Ensembl chr 5:81,743,254...81,784,565
|
|
G |
SOD2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:12543247 PMID:15274141 |
|
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
|
|
G |
SOX2 |
SRY-box transcription factor 2 |
|
ISO |
protein:increased expression:mammalian vulva, epithelium CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:19801978 PMID:23518916 |
RGD:8661666 |
NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662
|
|
G |
STAT3 |
signal transducer and activator of transcription 3 |
disease_progression |
ISO |
protein:increased phosphorylation:skin CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:16043897 PMID:17566705 PMID:26432044 |
RGD:8694300 |
NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
|
|
G |
STK11 |
serine/threonine kinase 11 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
Ensembl chr19:1,188,537...1,210,677
|
|
G |
TERF1 |
telomeric repeat binding factor 1 |
|
ISO |
|
RGD |
PMID:19679647 |
RGD:2317221 |
NCBI chr 8:69,545,115...69,583,997
|
|
G |
TET2 |
tet methylcytosine dioxygenase 2 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400
|
|
G |
TGFB1 |
transforming growth factor beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20852150 |
|
NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
|
|
G |
TIAM1 |
TIAM Rac1 associated GEF 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27862620 |
|
NCBI chr21:17,483,273...17,925,301
Ensembl chr21:30,868,308...31,016,883
|
|
G |
TLR4 |
toll like receptor 4 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:27993330 |
|
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
|
|
G |
TNFRSF1A |
TNF receptor superfamily member 1A |
|
ISO |
|
RGD |
PMID:15044707 |
RGD:8661739 |
NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
|
|
G |
TP53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Epidermoid carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma |
ClinVar |
PMID:1672732 PMID:9472631 PMID:9572492 PMID:10557074 PMID:10713666 PMID:10754498 PMID:11590071 PMID:11793474 PMID:12779080 PMID:12826609 PMID:15037740 PMID:15077194 PMID:15161705 PMID:15308588 PMID:15564800 PMID:16778209 PMID:16861262 PMID:18555592 PMID:21561095 PMID:25741868 PMID:26580448 PMID:26619011 PMID:27993330 PMID:28492532 PMID:29070607 PMID:29785153 PMID:29979965 PMID:30224644 PMID:30720243 PMID:30840781 PMID:31159747 PMID:32899294 More...
|
|
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
|
|
G |
TP63 |
tumor protein p63 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21527555 |
|
NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104
|
|
G |
TPI1 |
triosephosphate isomerase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15274141 |
|
NCBI chr12:6,999,275...7,002,678
Ensembl chr12:6,910,813...6,913,612
|
|
G |
TSC1 |
TSC complex subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18538015 |
|
NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759
|
|
G |
TSC2 |
TSC complex subunit 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18538015 |
|
NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
|
|
G |
TYMS |
thymidylate synthetase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16280240 |
|
NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320
|
|
G |
UBA1 |
ubiquitin like modifier activating enzyme 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19014429 |
|
NCBI chr X:39,627,753...39,652,023
Ensembl chr X:47,493,331...47,509,654
|
|
G |
UBA7 |
ubiquitin like modifier activating enzyme 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19014429 |
|
NCBI chr 3:49,737,015...49,745,783
Ensembl chr 3:50,973,211...50,981,997
|
|
G |
UMPS |
uridine monophosphate synthetase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16757204 |
|
NCBI chr 3:121,832,758...121,851,707
Ensembl chr 3:128,731,355...128,745,029
|
|
G |
VDAC2 |
voltage dependent anion channel 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15274141 |
|
NCBI chr10:71,739,395...71,763,835
|
|
G |
VDR |
vitamin D receptor |
|
ISO |
DNA:SNPs, haplotype: :rs731236, rs7975232 (human) DNA:SNP: :rs1544410 (human) |
RGD |
PMID:16950800 PMID:22213323 |
RGD:8158063 RGD:8158080 |
NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
|
|
G |
VEGFA |
vascular endothelial growth factor A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15956251 PMID:26432044 |
|
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
|
|
G |
WWOX |
WW domain containing oxidoreductase |
|
ISO |
CTD Direct Evidence: marker/mechanism esophageal squamous cell carcinoma, OMIM:133239 |
CTD RGD |
PMID:11956080 PMID:17575124 |
RGD:1599874 |
NCBI chr16:58,689,609...59,800,333
Ensembl chr16:78,125,302...79,231,546
|
|
G |
XPC |
XPC complex subunit, DNA damage recognition and repair factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27777383 |
|
NCBI chr 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377
|
|
G |
XRCC5 |
X-ray repair cross complementing 5 |
|
ISO |
protein:increased expression:epidermal cell, squamous cell of epidermis (human) |
RGD |
PMID:16497868 |
RGD:8698657 |
NCBI chr2B:103,371,459...103,468,419
Ensembl chr2B:221,972,742...222,071,235
|
|
G |
XRCC6 |
X-ray repair cross complementing 6 |
|
ISO |
protein:increased expression:epidermal cell, squamous cell of epidermis (human) |
RGD |
PMID:16497868 |
RGD:8698657 |
NCBI chr22:22,516,281...22,557,379
Ensembl chr22:40,603,038...40,643,314
|
|
|
G |
BRCA2 |
BRCA2 DNA repair associated |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24880342 |
|
NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
|
|
G |
CHEK2 |
checkpoint kinase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24880342 |
|
NCBI chr22:9,757,038...9,811,171
|
|
G |
STRAP |
serine/threonine kinase receptor associated protein |
|
ISO |
|
RGD |
PMID:16778189 |
RGD:1581429 |
NCBI chr12:15,883,512...15,904,778
Ensembl chr12:16,279,956...16,300,746
|
|
G |
TP63 |
tumor protein p63 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23271742 |
|
NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104
|
|
|
G |
CCNH |
cyclin H |
|
ISO |
ClinVar Annotator: match by term: Parkes Weber syndrome |
ClinVar |
PMID:24038909 PMID:25326637 PMID:25741868 PMID:27081547 PMID:28492532 PMID:28655553 PMID:29891884 More...
|
|
NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149
|
|
G |
FN1 |
fibronectin 1 |
|
ISO |
mRNA, protein:increased expression:cerebral cortex |
RGD |
PMID:12621118 |
RGD:1358624 |
NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
|
|
G |
LOC100986730 |
guanine nucleotide-binding protein G(q) subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Sturge-Weber syndrome |
OMIM ClinVar |
PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 PMID:22253748 PMID:22653968 PMID:22733540 PMID:22808163 PMID:23656586 PMID:25188413 PMID:25741868 More...
|
|
NCBI chr 9:46,816,409...47,129,116
Ensembl chr 9:76,575,815...76,773,849
|
|
G |
MAP2K1 |
mitogen-activated protein kinase kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Parkes Weber syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161
|
|
G |
MMP2 |
matrix metallopeptidase 2 |
severity |
ISO |
protein:increased expression:urine |
RGD |
PMID:23720035 |
RGD:13204823 |
NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
|
|
G |
MMP9 |
matrix metallopeptidase 9 |
severity |
ISO |
protein:increased expression:urine |
RGD |
PMID:23720035 |
RGD:13204823 |
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
|
|
G |
RASA1 |
RAS p21 protein activator 1 |
|
ISO |
ClinVar Annotator: match by term: Parkes Weber syndrome |
ClinVar |
PMID:22200646 PMID:23801933 PMID:24038909 PMID:25326637 PMID:25741868 PMID:27081547 PMID:28492532 PMID:28655553 PMID:29891884 More...
|
|
NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321
|
|
|
G |
HSPG2 |
heparan sulfate proteoglycan 2 |
|
ISO |
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400
|
|
G |
IL6ST |
interleukin 6 cytokine family signal transducer |
|
ISO |
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome |
ClinVar |
PMID:25741868 PMID:31914175 |
|
NCBI chr 5:58,023,704...58,081,895
Ensembl chr 5:59,669,606...59,708,817
|
|
G |
LIFR |
LIF receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome |
ClinVar |
PMID:9536098 PMID:14740318 PMID:16199547 PMID:17576681 PMID:19371797 PMID:20447141 PMID:24033266 PMID:24477277 PMID:24988918 PMID:25326635 PMID:25540807 PMID:25741868 PMID:25868946 PMID:26627873 PMID:26752647 PMID:28334964 PMID:28492532 PMID:30614825 PMID:34063511 PMID:34426522 More...
|
|
NCBI chr 5:71,817,431...71,899,101
Ensembl chr 5:76,878,633...76,928,267
|
|
|
G |
HSPG2 |
heparan sulfate proteoglycan 2 |
|
ISO |
ClinVar Annotator: match by term: Stüve-Wiedemann syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:21,014,951...21,129,937
Ensembl chr 1:21,979,504...22,053,400
|
|
G |
LIFR |
LIF receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Stüve-Wiedemann syndrome | ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 |
OMIM ClinVar |
PMID:14740318 PMID:16199547 PMID:19371797 PMID:24477277 PMID:25741868 PMID:25868946 PMID:26627873 PMID:28334964 PMID:28492532 PMID:30919572 PMID:34063511 PMID:34426522 More...
|
|
NCBI chr 5:71,817,431...71,899,101
Ensembl chr 5:76,878,633...76,928,267
|
|
|
G |
CEP290 |
centrosomal protein 290 |
|
ISO |
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044
|
|
G |
CIMIP2B |
ciliary microtubule inner protein 2B |
|
ISO |
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 9:35,411,930...35,442,971
Ensembl chr 9:36,216,030...36,260,042
|
|
G |
IL6ST |
interleukin 6 cytokine family signal transducer |
|
ISO |
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31914175 |
|
NCBI chr 5:58,023,704...58,081,895
Ensembl chr 5:59,669,606...59,708,817
|
|
G |
RUSC2 |
RUN and SH3 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Stuve-Wiedemann syndrome 2 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 9:35,339,146...35,411,989
Ensembl chr 9:36,200,865...36,215,582
|
|
|
G |
CACNA1A |
calcium voltage-gated channel subunit alpha1 A |
|
ISO |
ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
|
|
|
G |
TNRC6B |
trinucleotide repeat containing adaptor 6B |
severity |
ISO |
DNA:SNP: :rs12484776(human) |
RGD |
PMID:23892540 |
RGD:14394614 |
NCBI chr22:21,149,646...21,240,006
Ensembl chr22:38,850,107...39,045,914
|
|
|
G |
MACF1 |
microtubule actin crosslinking factor 1 |
|
ISO |
ClinVar Annotator: match by term: Facial hemangioma |
ClinVar |
PMID:31474318 |
|
NCBI chr 1:38,369,021...38,771,911
Ensembl chr 1:39,820,394...40,096,558
|
|
|
G |
MINPP1 |
multiple inositol-polyphosphate phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Thyroid adenoma |
ClinVar |
PMID:11297621 |
|
NCBI chr10:84,230,676...84,280,042
Ensembl chr10:87,737,649...87,787,130
|
|
|
G |
CBX7 |
chromobox 7 |
|
ISO |
protein:decreased expression:thyroid Human) |
RGD |
PMID:25759796 |
RGD:11352710 |
NCBI chr22:20,037,529...20,059,459
Ensembl chr22:37,854,056...37,876,084
|
|
G |
PSMB9 |
proteasome 20S subunit beta 9 |
|
ISO |
|
RGD |
PMID:19924240 |
RGD:6483332 |
NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402
|
|
|
G |
ADA |
adenosine deaminase |
|
ISO |
protein:increased activity:saliva: |
RGD |
PMID:20379753 |
RGD:152995262 |
NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
|
|
G |
ADIPOQ |
adiponectin, C1Q and collagen domain containing |
disease_progression |
ISO |
protein:decreased expression:serum |
RGD |
PMID:23181352 |
RGD:8694469 |
NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885
|
|
G |
BCL2 |
BCL2 apoptosis regulator |
|
ISO |
protein:increased expression:tongue (human) |
RGD |
PMID:26581505 |
RGD:11535375 |
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
|
|
G |
BIRC2 |
baculoviral IAP repeat containing 2 |
exacerbates |
ISO |
protein:increased expression:tongue (human) |
RGD |
PMID:18621506 |
RGD:153323319 |
NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421
|
|
G |
BRINP3 |
BMP/retinoic acid inducible neural specific 3 |
|
ISO |
mRNA:decreased expression:tongue: |
RGD |
PMID:19787213 |
RGD:14398487 |
NCBI chr 1:165,586,510...165,972,173
Ensembl chr 1:169,873,541...170,258,015
|
|
G |
CAV2 |
caveolin 2 |
|
ISO |
protein:increased expression:mucosa of tongue |
RGD |
PMID:20558341 |
RGD:8661771 |
NCBI chr 7:108,254,074...108,480,716
Ensembl chr 7:121,168,579...121,177,415
|
|
G |
CCND1 |
cyclin D1 |
|
ISO |
protein:increased expression:tongue (human) |
RGD |
PMID:26581505 |
RGD:11535375 |
NCBI chr11:64,737,006...64,750,353
|
|
G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
disease_progression |
ISO |
|
RGD |
PMID:12162767 |
RGD:8662376 |
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
|
|
G |
CXCL8 |
C-X-C motif chemokine ligand 8 |
|
ISO |
mRNA:increased expression:head, neck (human) |
RGD |
PMID:31452775 |
RGD:150520018 |
NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083
|
|
G |
EGFR |
epidermal growth factor receptor |
treatment |
ISO |
|
RGD |
PMID:19380367 |
RGD:8551769 |
NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615
|
|
G |
ERBB3 |
erb-b2 receptor tyrosine kinase 3 |
disease_progression |
ISO |
|
RGD |
PMID:19691460 |
RGD:126781771 |
NCBI chr12:32,811,533...32,834,958
Ensembl chr12:33,063,434...33,084,994
|
|
G |
ERBB4 |
erb-b2 receptor tyrosine kinase 4 |
severity |
ISO |
|
RGD |
PMID:19691460 |
RGD:126781771 |
NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
|
|
G |
FANCB |
FA complementation group B |
|
ISO |
|
RGD |
PMID:17409780 |
RGD:11049143 |
NCBI chr X:7,470,574...7,500,958
Ensembl chr X:14,752,934...14,781,817
|
|
G |
FANCC |
FA complementation group C |
|
ISO |
|
RGD |
PMID:17409780 |
RGD:11049143 |
NCBI chr 9:66,201,581...66,418,229
Ensembl chr 9:94,329,971...94,477,198
|
|
G |
FANCF |
FA complementation group F |
|
ISO |
mRNA:decreased expression:tongue: |
RGD |
PMID:17409780 |
RGD:11049143 |
NCBI chr11:22,634,301...22,637,885
Ensembl chr11:22,544,052...22,545,176
|
|
G |
FANCG |
FA complementation group G |
|
ISO |
|
RGD |
PMID:17409780 |
RGD:11049143 |
NCBI chr 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648
|
|
G |
FANCI |
FA complementation group I |
|
ISO |
|
RGD |
PMID:17409780 |
RGD:11049143 |
NCBI chr15:67,935,882...68,009,033
Ensembl chr15:87,142,871...87,215,271
|
|
G |
FANCL |
FA complementation group L |
|
ISO |
|
RGD |
PMID:17409780 |
RGD:11049143 |
NCBI chr2A:58,270,620...58,353,001
Ensembl chr2A:59,418,265...59,499,496
|
|
G |
FANCM |
FA complementation group M |
|
ISO |
|
RGD |
PMID:17409780 |
RGD:11049143 |
NCBI chr14:25,752,295...25,817,001
Ensembl chr14:44,080,146...44,143,958
|
|
G |
FOS |
Fos proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
mRNA,protein:increased expression:tongue (human) |
RGD |
PMID:26581505 |
RGD:11535375 |
NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766
|
|
G |
FOSB |
FosB proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
protein:increased expression:tongue (human) |
RGD |
PMID:26581505 |
RGD:11535375 |
NCBI chr19:42,416,781...42,424,003
Ensembl chr19:51,013,350...51,020,570
|
|
G |
FOSL1 |
FOS like 1, AP-1 transcription factor subunit |
|
ISO |
protein:decreased expression:tongue (human) |
RGD |
PMID:26581505 |
RGD:11535375 |
NCBI chr11:61,252,513...61,261,032
Ensembl chr11:64,581,841...64,589,304
|
|
G |
FOSL2 |
FOS like 2, AP-1 transcription factor subunit |
|
ISO |
mRNA,protein:increased expression:tongue (human) |
RGD |
PMID:26581505 |
RGD:11535375 |
NCBI chr2A:28,392,328...28,416,838
Ensembl chr2A:28,485,613...28,498,397
|
|
G |
FUBP1 |
far upstream element binding protein 1 |
exacerbates |
ISO |
mRNA, protein:increased expression:tongue (human) |
RGD |
PMID:32339054 |
RGD:151361191 |
NCBI chr 1:77,162,675...77,198,486
|
|
G |
GJA1 |
gap junction protein alpha 1 |
|
ISO |
protein:decreased expression:epithelium |
RGD |
PMID:23568744 |
RGD:8662380 |
NCBI chr 6:119,213,513...119,227,617
|
|
G |
HGF |
hepatocyte growth factor |
|
ISO |
protein:increased expression:tongue: |
RGD |
PMID:20848408 |
RGD:8548612 |
NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
|
|
G |
IFNG |
interferon gamma |
disease_progression |
ISO |
protein:decreased expression:serum: |
RGD |
PMID:17338814 |
RGD:8662972 |
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
|
|
G |
IL10 |
interleukin 10 |
disease_progression |
ISO |
protein:increased expression:serum: |
RGD |
PMID:17338814 |
RGD:8662972 |
NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371
|
|
G |
IL1RL1 |
interleukin 1 receptor like 1 |
disease_progression |
ISO |
|
RGD |
PMID:25193287 |
RGD:39938972 |
|
|
G |
IL2 |
interleukin 2 |
|
ISO |
protein:decreased expression:serum: |
RGD |
PMID:17338814 |
RGD:8662972 |
NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
|
|
G |
IL33 |
interleukin 33 |
disease_progression |
ISO |
|
RGD |
PMID:25193287 |
RGD:39938972 |
NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624
|
|
G |
JAK3 |
Janus kinase 3 |
disease_progression |
ISO |
|
RGD |
PMID:26860129 |
RGD:11531126 |
NCBI chr19:17,299,129...17,330,700
Ensembl chr19:18,283,560...18,300,964
|
|
G |
JUN |
Jun proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
mRNA,protein:increased expression:tongue (human) |
RGD |
PMID:26581505 |
RGD:11535375 |
NCBI chr 1:58,042,794...58,045,536
|
|
G |
JUNB |
JunB proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
protein:increased expression:tongue (human) |
RGD |
PMID:26581505 |
RGD:11535375 |
NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974
|
|
G |
JUND |
JunD proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
protein:increased expression:tongue (human) |
RGD |
PMID:26581505 |
RGD:11535375 |
NCBI chr19:17,755,331...17,757,164
|
|
G |
KDR |
kinase insert domain receptor |
treatment |
ISO |
|
RGD |
PMID:19380367 |
RGD:8551769 |
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
|
|
G |
MAP2K4 |
mitogen-activated protein kinase kinase 4 |
|
ISO |
mRNA:increased expression:tongue squamous epithelium (human) |
RGD |
PMID:28319306 |
RGD:150429750 |
NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909
|
|
G |
MET |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
protein:increased expression:tongue: |
RGD |
PMID:20848408 |
RGD:8548612 |
NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
|
|
G |
MMP9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased expression:tongue (human) |
RGD |
PMID:26581505 |
RGD:11535375 |
NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
|
|
G |
MTUS1 |
microtubule associated scaffold protein 1 |
disease_progression |
ISO |
|
RGD |
PMID:22153618 |
RGD:25330347 |
NCBI chr 8:16,863,307...17,020,684
|
|
G |
SLC1A5 |
solute carrier family 1 member 5 |
disease_progression |
ISO |
|
RGD |
PMID:24762957 |
RGD:151361157 |
NCBI chr19:43,765,001...43,778,981
Ensembl chr19:52,294,655...52,307,529
|
|
G |
SLC3A2 |
solute carrier family 3 member 2 |
disease_progression |
ISO |
|
RGD |
PMID:24762957 |
RGD:151361157 |
NCBI chr11:58,212,395...58,241,686
Ensembl chr11:61,565,680...61,594,579
|
|
G |
SLC7A11 |
solute carrier family 7 member 11 |
severity |
ISO |
|
RGD |
PMID:24762957 |
RGD:151361157 |
NCBI chr 4:130,529,677...130,601,396
Ensembl chr 4:141,849,343...141,959,849
|
|
G |
SLC7A5 |
solute carrier family 7 member 5 |
disease_progression |
ISO |
|
RGD |
PMID:24762957 |
RGD:151361157 |
NCBI chr16:68,512,407...68,552,763
|
|
G |
SOX2 |
SRY-box transcription factor 2 |
disease_progression |
ISO |
|
RGD |
PMID:21689966 |
RGD:8661665 |
NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662
|
|
G |
TP53 |
tumor protein p53 |
|
ISO |
protein:increased expression:tongue: |
RGD |
PMID:20385474 |
RGD:8547851 |
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
|
|
|
G |
FGFR3 |
fibroblast growth factor receptor 3 |
severity |
ISO |
associated with human papillomavirus;protein:decreased expression:tumor cells (human) |
RGD |
PMID:30061236 |
RGD:36947883 |
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
|
|
|
G |
GNA14 |
G protein subunit alpha 14 |
|
ISO |
ClinVar Annotator: match by term: Tufted angioma |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:47,196,338...47,423,388
|
|
G |
KDR |
kinase insert domain receptor |
|
ISO |
ClinVar Annotator: match by term: Tufted angioma |
ClinVar |
PMID:25741868 PMID:26422291 PMID:28492532 |
|
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
|
|
|
G |
ADA |
adenosine deaminase |
susceptibility |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:26918693 |
RGD:152995264 |
NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
|
|
G |
BET1L |
Bet1 golgi vesicular membrane trafficking protein like |
|
ISO |
DNA:SNP:rs2280543(human) |
RGD |
PMID:23892540 |
RGD:14394614 |
NCBI chr11:197,901...203,307
Ensembl chr11:242,985...248,762
|
|
G |
COL4A1 |
collagen type IV alpha 1 chain |
|
ISO |
DNA:hypomethylation:uterus (human) |
RGD |
PMID:23818951 |
RGD:401851920 |
NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529
|
|
G |
COL4A2 |
collagen type IV alpha 2 chain |
|
ISO |
mRNA:increased expression:uterus (human) |
RGD |
PMID:23818951 |
RGD:401851920 |
NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530
|
|
G |
COL6A3 |
collagen type VI alpha 3 chain |
|
ISO |
mRNA:increased expression:uterus (human) |
RGD |
PMID:23818951 |
RGD:401851920 |
NCBI chr2B:124,554,478...124,644,482
|
|
G |
DAPK1 |
death associated protein kinase 1 |
|
ISO |
mRNA:decreased expression:uterus (human) |
RGD |
PMID:23818951 |
RGD:401851920 |
NCBI chr 9:58,628,872...58,836,205
Ensembl chr 9:86,681,953...86,887,958
|
|
G |
DLX3 |
distal-less homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Uterine leiomyoma |
ClinVar |
PMID:25741868 |
|
NCBI chr17:44,076,437...44,081,690
Ensembl chr17:48,950,474...48,955,848
|
|
G |
FH |
fumarate hydratase |
|
ISO |
ClinVar Annotator: match by term: Uterine leiomyoma |
ClinVar |
PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212
|
|
G |
GSTM5 |
glutathione S-transferase mu 5 |
|
ISO |
mRNA:decreased expression:uterus (human) |
RGD |
PMID:23818951 |
RGD:401851920 |
NCBI chr 1:112,356,184...112,361,731
Ensembl chr 1:127,979,238...128,010,411
|
|
G |
HMGA2 |
high mobility group AT-hook 2 |
|
ISO |
ClinVar Annotator: match by term: Uterine leiomyoma |
ClinVar |
|
|
NCBI chr12:22,954,946...23,096,623
|
|
G |
IRS1 |
insulin receptor substrate 1 |
|
ISO |
DNA:hypomethylation:uterus (human) |
RGD |
PMID:23818951 |
RGD:401851920 |
NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967
|
|
G |
MED12 |
mediator complex subunit 12 |
|
ISO |
ClinVar Annotator: match by term: Uterine leiomyoma |
ClinVar |
PMID:26822237 |
|
NCBI chr X:60,386,820...60,410,730
Ensembl chr X:70,443,667...70,466,942
|
|
G |
NUAK1 |
NUAK family kinase 1 |
|
ISO |
mRNA:decreased expression:uterus (human) |
RGD |
PMID:23818951 |
RGD:401851920 |
NCBI chr12:103,642,744...103,720,352
Ensembl chr12:107,037,627...107,113,163
|
|
G |
PTCH1 |
patched 1 |
|
ISO |
ClinVar Annotator: match by term: Uterine leiomyoma |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
|
|
G |
TNRC6B |
trinucleotide repeat containing adaptor 6B |
severity |
ISO |
DNA:SNP: :rs12484776(human) |
RGD |
PMID:23892540 |
RGD:14394614 |
NCBI chr22:21,149,646...21,240,006
Ensembl chr22:38,850,107...39,045,914
|
|
G |
TSC2 |
TSC complex subunit 2 |
|
ISO |
OMIM:150699 |
MouseDO |
|
|
NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569
|
|
|
G |
BCL2L1 |
BCL2 like 1 |
|
ISO |
associated with Carcinoma, Renal Cell;protein:increased expression:uterus |
RGD |
PMID:16962107 |
RGD:1643479 |
NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
|
|
|
G |
CLDN14 |
claudin 14 |
|
ISO |
ClinVar Annotator: match by term: Galen vein aneurysm |
ClinVar |
PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106 |
|
NCBI chr21:22,830,770...22,946,594
Ensembl chr21:36,187,306...36,188,025
|
|
G |
EPHB4 |
EPH receptor B4 |
|
ISO |
ClinVar Annotator: match by term: Galen vein aneurysm |
ClinVar |
PMID:30578106 |
|
NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022
|
|
G |
KAT6A |
lysine acetyltransferase 6A |
|
ISO |
ClinVar Annotator: match by term: Galen vein aneurysm |
ClinVar |
PMID:30578106 |
|
NCBI chr 8:41,173,833...41,296,547
Ensembl chr 8:38,625,156...38,741,538
|
|
G |
KMT2D |
lysine methyltransferase 2D |
|
ISO |
ClinVar Annotator: match by term: Galen vein aneurysm |
ClinVar |
PMID:28492532 PMID:30578106 |
|
NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661
|
|
G |
LOC100989368 |
Kell metallo-endopeptidase (Kell blood group) |
|
ISO |
ClinVar Annotator: match by term: Galen vein aneurysm |
ClinVar |
PMID:30578106 |
|
NCBI chr 7:134,897,567...135,237,214
Ensembl chr 7:147,423,103...147,443,895 Ensembl chr 7:147,423,103...147,443,895
|
|
G |
SMARCA2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
|
ISO |
ClinVar Annotator: match by term: Galen vein aneurysm |
ClinVar |
PMID:30578106 |
|
NCBI chr 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409
|
|
|
G |
MAP3K3 |
mitogen-activated protein kinase kinase kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Verrucous venous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr17:57,702,242...57,776,601
Ensembl chr17:62,858,635...62,922,874
|
|
|
G |
AP1B1 |
adaptor related protein complex 1 subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
NCBI chr22:10,383,036...10,443,655
Ensembl chr22:28,189,831...28,285,007
|
|
G |
ASCC2 |
activating signal cointegrator 1 complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
NCBI chr22:10,832,102...10,881,987
Ensembl chr22:28,637,041...28,686,003
|
|
G |
C23H22orf31 |
chromosome 23 C22orf31 homolog |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
NCBI chr22:10,114,034...10,129,561
Ensembl chr22:27,813,912...27,817,168
|
|
G |
CABP7 |
calcium binding protein 7 |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
NCBI chr22:10,763,495...10,775,460
|
|
G |
CCDC117 |
coiled-coil domain containing 117 |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
NCBI chr22:9,841,876...9,891,088
Ensembl chr22:27,544,719...27,561,144
|
|
G |
CHEK2 |
checkpoint kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
NCBI chr22:9,757,038...9,811,171
|
|
G |
EMID1 |
EMI domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
NCBI chr22:10,261,598...10,315,182
Ensembl chr22:28,070,033...28,122,186
|
|
G |
EWSR1 |
EWS RNA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
NCBI chr22:10,323,622...10,356,039
Ensembl chr22:28,131,109...28,163,134
|
|
G |
GAS2L1 |
growth arrest specific 2 like 1 |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
NCBI chr22:10,362,391...10,368,173
Ensembl chr22:28,169,387...28,175,278
|
|
G |
HSCB |
HscB mitochondrial iron-sulfur cluster cochaperone |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
NCBI chr22:9,811,294...9,826,245
Ensembl chr22:27,512,564...27,527,914
|
|
G |
KREMEN1 |
kringle containing transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
NCBI chr22:10,128,326...10,202,548
Ensembl chr22:27,828,011...28,031,917
|
|
G |
LOC100968432 |
cytochrome b-c1 complex subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
NCBI chr22:10,810,858...10,813,466
Ensembl chr22:28,615,583...28,618,426
|
|
G |
MTMR3 |
myotubularin related protein 3 |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
NCBI chr22:10,925,275...11,072,554
Ensembl chr22:28,818,273...28,872,982
|
|
G |
NEFH |
neurofilament heavy chain |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
NCBI chr22:10,525,738...10,536,788
|
|
G |
NF2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
OMIM ClinVar |
PMID:1479598 PMID:2543905 PMID:4000972 PMID:7535084 PMID:7666400 PMID:7711726 PMID:7759081 PMID:7868131 PMID:7913580 PMID:7951231 PMID:8012353 PMID:8081368 PMID:8230593 PMID:8379998 PMID:8566958 PMID:8698340 PMID:8751853 PMID:8755919 PMID:8757035 PMID:8797533 PMID:8882871 PMID:8889506 PMID:9391890 PMID:9466988 PMID:9536098 PMID:9605590 PMID:9643284 PMID:9718334 PMID:9817921 PMID:9817927 PMID:9884492 PMID:9931334 PMID:10220142 PMID:10691417 PMID:10712203 PMID:10777666 PMID:10970839 PMID:11085592 PMID:11129337 PMID:11448944 PMID:11535133 PMID:11668501 PMID:11756419 PMID:11779178 PMID:11809806 PMID:12118253 PMID:12217955 PMID:12566519 PMID:12695331 PMID:12807969 PMID:15598747 PMID:15635074 PMID:15645494 PMID:15684865 PMID:15692946 PMID:16199547 PMID:16509493 PMID:16532029 PMID:16983642 PMID:17222329 PMID:17330926 PMID:17576681 PMID:17607601 PMID:18033041 PMID:18173316 PMID:18554169 PMID:18670066 PMID:18766994 PMID:19234911 PMID:19249154 PMID:19451225 PMID:19924781 PMID:19968670 PMID:20553997 PMID:20831745 PMID:21294614 PMID:21563229 PMID:21671232 PMID:21906157 PMID:22012890 PMID:22081132 PMID:22295085 PMID:22325036 PMID:22703879 PMID:22711605 PMID:23196945 PMID:23348505 PMID:24030433 PMID:24033266 PMID:24309211 PMID:24595234 PMID:24728327 PMID:24815379 PMID:25326635 PMID:25525159 PMID:25567352 PMID:25640679 PMID:25741868 PMID:25798586 PMID:25931164 PMID:26031996 PMID:26045165 PMID:26066488 PMID:26073919 PMID:26332594 PMID:26343386 PMID:26407091 PMID:26467025 PMID:27128293 PMID:27600092 PMID:27704245 PMID:27930734 PMID:28365909 PMID:28492532 PMID:28526081 PMID:28737257 PMID:28873162 PMID:29316957 PMID:29409008 PMID:29489754 PMID:29625052 PMID:29641532 PMID:29685074 PMID:29761250 PMID:29781505 PMID:30306255 PMID:30594554 PMID:30833958 PMID:31089872 PMID:31273341 PMID:31370276 PMID:32191290 PMID:32724039 PMID:33058421 PMID:33067351 PMID:33606809 PMID:35264596 More...
|
|
NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013
|
|
G |
NIPSNAP1 |
nipsnap homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
NCBI chr22:10,600,285...10,626,474
Ensembl chr22:28,406,638...28,432,897
|
|
G |
RASL10A |
RAS like family 10 member A |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
NCBI chr22:10,368,321...10,371,137
|
|
G |
RFPL1 |
ret finger protein like 1 |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
|
|
G |
RHBDD3 |
rhomboid domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
NCBI chr22:10,315,438...10,323,803
Ensembl chr22:28,123,115...28,131,090
|
|
G |
SMARCB1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
|
ISO |
DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) |
RGD |
PMID:28365909 |
RGD:151708708 |
NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921
|
|
G |
THOC5 |
THO complex subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
NCBI chr22:10,553,665...10,599,948
Ensembl chr22:28,357,644...28,404,346
|
|
G |
VEGFA |
vascular endothelial growth factor A |
|
ISO |
|
RGD |
PMID:19587327 PMID:20406973 |
RGD:8547955 RGD:8547957 |
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
|
|
G |
XBP1 |
X-box binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
NCBI chr22:9,863,479...9,869,491
Ensembl chr22:27,567,041...27,571,943
|
|
G |
ZMAT5 |
zinc finger matrin-type 5 |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
NCBI chr22:10,774,446...10,810,609
Ensembl chr22:28,580,010...28,615,498
|
|
G |
ZNRF3 |
zinc and ring finger 3 |
|
ISO |
ClinVar Annotator: match by term: Neurofibromatosis, type 2 |
ClinVar |
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
|
|
NCBI chr22:9,891,021...10,109,147
Ensembl chr22:27,742,301...27,810,427
|
|
|
G |
RNF43 |
ring finger protein 43 |
|
ISO |
DNA:nonsense mutation:CDS:p.R113X (human) |
RGD |
PMID:24512911 |
RGD:11552863 |
NCBI chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748
|
|
|
G |
BRK1 |
BRICK1 subunit of SCAR/WAVE actin nucleating complex |
|
ISO |
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545
|
|
G |
CCND1 |
cyclin D1 |
|
ISO |
ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF |
ClinVar OMIM |
PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 |
|
NCBI chr11:64,737,006...64,750,353
|
|
G |
EPAS1 |
endothelial PAS domain protein 1 |
|
ISO |
protein:increased expression:kidney: |
RGD |
PMID:22299048 |
RGD:11041600 |
NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560
|
|
G |
IRAK2 |
interleukin 1 receptor associated kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:10,100,279...10,179,487
Ensembl chr 3:10,453,329...10,532,629
|
|
G |
MMP3 |
matrix metallopeptidase 3 |
onset |
ISO |
|
RGD |
PMID:19551141 |
RGD:7241233 |
NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
|
|
G |
SDHB |
succinate dehydrogenase complex iron sulfur subunit B |
|
ISO |
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome |
ClinVar |
PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 PMID:18419787 PMID:19454582 PMID:19802898 PMID:21348866 PMID:21909610 PMID:21934479 PMID:23083876 PMID:24033266 PMID:24466223 PMID:25326637 PMID:25741868 PMID:25972245 PMID:26467025 PMID:27171833 PMID:27573198 PMID:28324028 PMID:28374168 PMID:28492532 PMID:29386252 PMID:163114641 More...
|
|
NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509
|
|
G |
SLC18A1 |
solute carrier family 18 member A1 |
|
ISO |
mRNA:increased expression:tumor (human) |
RGD |
PMID:16189177 |
RGD:5131200 |
NCBI chr 8:19,369,843...19,408,412
Ensembl chr 8:16,318,744...16,353,708
|
|
G |
VHL |
von Hippel-Lindau tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome |
OMIM ClinVar |
PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:7553625 PMID:7563486 PMID:7660122 PMID:7728151 PMID:7759077 PMID:7784063 PMID:7915601 PMID:7977367 PMID:7987306 PMID:7987327 PMID:8069849 PMID:8187067 PMID:8239848 PMID:8270255 PMID:8493574 PMID:8522307 PMID:8550742 PMID:8592333 PMID:8634692 PMID:8641695 PMID:8641976 PMID:8707293 PMID:8730290 PMID:8772572 PMID:8825918 PMID:8825919 PMID:8863170 PMID:8956040 PMID:9058738 PMID:9067265 PMID:9143408 PMID:9156047 PMID:9209471 PMID:9215674 PMID:9329368 PMID:9398721 PMID:9399847 PMID:9435426 PMID:9447969 PMID:9452032 PMID:9536098 PMID:9663592 PMID:9671762 PMID:9681856 PMID:9681858 PMID:9751722 PMID:9770531 PMID:9829911 PMID:9829912 PMID:9880225 PMID:10088816 PMID:10102622 PMID:10205047 PMID:10326868 PMID:10340905 PMID:10364675 PMID:10408776 PMID:10458336 PMID:10533030 PMID:10563480 PMID:10567493 PMID:10570625 PMID:10581162 PMID:10587522 PMID:10612827 PMID:10627136 PMID:10697963 PMID:10761708 PMID:10766184 PMID:10823831 PMID:10862095 PMID:10878807 PMID:10900011 PMID:10955664 PMID:11058902 PMID:11106358 PMID:11114638 PMID:11148816 PMID:11160785 PMID:11257211 PMID:11309459 PMID:11331612 PMID:11331613 PMID:11409863 PMID:11483638 PMID:11505222 PMID:11536052 PMID:11688393 PMID:11688398 PMID:11709017 PMID:11739384 PMID:11835384 PMID:11865071 PMID:11896624 PMID:11921283 PMID:11987242 PMID:12000816 PMID:12004076 PMID:12050673 PMID:12056827 PMID:12081237 PMID:12114475 PMID:12114495 PMID:12202531 PMID:12393546 PMID:12414898 PMID:12415268 PMID:12500216 PMID:12510195 PMID:12538644 PMID:12603429 PMID:12624160 PMID:12629069 PMID:12702509 PMID:12807974 PMID:12844285 PMID:12853836 PMID:12912922 PMID:13985160 PMID:14500403 PMID:14556007 PMID:14604959 PMID:14636579 PMID:14722919 PMID:14726398 PMID:14767570 PMID:14965365 PMID:14973063 PMID:14987375 PMID:15109448 PMID:15177666 PMID:15300849 PMID:15574766 PMID:15611064 PMID:15642664 PMID:15642680 PMID:15881703 PMID:15918937 PMID:15932632 PMID:16142346 PMID:16199547 PMID:16210343 PMID:16261165 PMID:16314641 PMID:16452184 PMID:16488999 PMID:16502427 PMID:16505488 PMID:16572651 PMID:16595991 PMID:16669786 PMID:16775032 PMID:16809612 PMID:16847331 PMID:16868829 PMID:16884327 PMID:16952288 PMID:16969113 PMID:17001110 PMID:17024664 PMID:17060462 PMID:17102069 PMID:17102082 PMID:17102083 PMID:17102087 PMID:17159241 PMID:17264095 PMID:17350623 PMID:17392848 PMID:17407064 PMID:17526729 PMID:17576681 PMID:17640059 PMID:17661816 PMID:17688370 PMID:17906660 PMID:17919893 PMID:17922902 PMID:17967880 PMID:17992257 PMID:17997830 PMID:18067796 PMID:18195360 PMID:18205710 PMID:18209888 PMID:18446368 PMID:18544564 PMID:18551016 PMID:18567581 PMID:18580449 PMID:18584357 PMID:18676741 PMID:18685280 PMID:18836774 PMID:18928468 PMID:19009041 PMID:19029228 PMID:19030229 PMID:19096585 PMID:19215943 PMID:19228690 PMID:19252526 PMID:19258401 PMID:19270817 PMID:19293973 PMID:19304954 PMID:19309509 PMID:19333546 PMID:19336503 PMID:19408298 PMID:19464396 PMID:19494350 PMID:19574279 PMID:19576851 PMID:19602254 PMID:19620968 PMID:19694021 PMID:19734639 PMID:19763184 PMID:19764026 PMID:19808854 PMID:19906784 PMID:19949673 PMID:19958924 PMID:19996202 PMID:20034980 PMID:20054297 PMID:20064270 PMID:20120764 PMID:20151405 PMID:20223044 PMID:20233476 PMID:20351605 PMID:20388653 PMID:20447124 PMID:20518900 PMID:20560986 PMID:20567917 PMID:20583150 PMID:20660572 PMID:20846682 PMID:20850701 PMID:20855504 PMID:20952280 PMID:21204227 PMID:21258414 PMID:21362373 PMID:21384277 PMID:21389259 PMID:21454469 PMID:21463266 PMID:21606165 PMID:21685897 PMID:21713522 PMID:21715564 PMID:21784903 PMID:21791076 PMID:21876117 PMID:21972040 PMID:21993671 PMID:22071692 PMID:22105611 PMID:22105711 PMID:22145147 PMID:22156657 PMID:22234250 PMID:22241717 PMID:22265326 PMID:22357542 PMID:22393103 PMID:22438210 PMID:22462637 PMID:22517557 PMID:22649785 PMID:22683710 PMID:22799452 PMID:22825683 PMID:23015148 PMID:23036577 PMID:23070752 PMID:23102223 PMID:23143947 PMID:23224817 PMID:23298237 PMID:23315997 PMID:23318261 PMID:23327821 PMID:23384228 PMID:23397066 PMID:23403324 PMID:23407919 PMID:23434161 PMID:23512077 PMID:23541568 PMID:23606570 PMID:23626751 PMID:23660872 PMID:23673869 PMID:23772956 PMID:23788753 PMID:23840444 PMID:23842656 PMID:23845641 PMID:23859443 PMID:23990664 PMID:23990666 PMID:24002598 PMID:24033266 PMID:24055113 PMID:24102379 PMID:24112165 PMID:24115288 PMID:24132471 PMID:24134185 PMID:24147197 PMID:24206762 PMID:24301059 PMID:24335534 PMID:24339559 PMID:24446253 PMID:24555745 PMID:24581539 PMID:24583008 PMID:24678776 PMID:24707167 PMID:24727139 PMID:24728327 PMID:24729484 PMID:24779271 PMID:24969085 PMID:24977658 PMID:24986515 PMID:25078357 PMID:25081542 PMID:25119015 PMID:25157968 PMID:25282218 PMID:25310726 PMID:25371412 PMID:25405498 PMID:25557216 PMID:25562111 PMID:25563310 PMID:25583177 PMID:25586603 PMID:25637381 PMID:25715769 PMID:25720320 PMID:25741868 PMID:25741896 PMID:25825477 PMID:25867206 PMID:25952756 PMID:25966224 PMID:25985138 PMID:26206375 PMID:26211615 PMID:26228213 PMID:26268347 PMID:26308528 PMID:26323595 PMID:26332594 PMID:26467025 PMID:26503325 PMID:26580448 PMID:26622630 PMID:26681312 PMID:26763786 PMID:26822237 PMID:26845104 PMID:26920352 PMID:26934580 PMID:26973240 PMID:27034144 PMID:27057652 PMID:27146957 PMID:27179072 PMID:27311873 PMID:27439424 PMID:27498913 PMID:27527340 PMID:27530247 PMID:27539324 PMID:27617348 PMID:27651169 PMID:27730413 PMID:27785399 PMID:28052007 PMID:28202063 PMID:28349240 PMID:28379443 PMID:28388566 PMID:28432847 PMID:28454591 PMID:28469506 PMID:28492532 PMID:28503092 PMID:28643803 PMID:28650583 PMID:28775317 PMID:28781534 PMID:28849724 PMID:28873162 PMID:28944243 PMID:28951115 PMID:28973655 PMID:29022557 PMID:29124493 PMID:29294023 PMID:29437867 PMID:29595810 PMID:29616089 PMID:29625052 PMID:29662268 PMID:29684080 PMID:29748190 PMID:29749453 PMID:29758562 PMID:29789510 PMID:29790589 PMID:29871882 PMID:29891534 PMID:29946849 PMID:29949369 PMID:29978187 PMID:30006056 PMID:30042107 PMID:30093976 PMID:30105105 PMID:30185211 PMID:30194449 PMID:30278534 PMID:30338240 PMID:30522901 PMID:30877234 PMID:30900640 PMID:30902965 PMID:30943211 PMID:30946460 PMID:31034483 PMID:31087189 PMID:31132167 PMID:31149315 PMID:31159747 PMID:31278746 PMID:31350093 PMID:31368132 PMID:31383958 PMID:31397861 PMID:31447099 PMID:31528828 PMID:31538058 PMID:31620170 PMID:31666924 PMID:31779674 PMID:32106822 PMID:32238909 PMID:32869749 PMID:33004005 PMID:33151962 PMID:33219105 PMID:33362715 PMID:33618821 PMID:33720516 PMID:33840814 PMID:33938902 PMID:34036514 PMID:34109129 PMID:34122352 PMID:34416425 PMID:34439168 PMID:34566400 PMID:35008334 PMID:35448166 PMID:35734542 PMID:36384467 PMID:36480544 More...
|
|
NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234
|
|
|
G |
CDC25A |
cell division cycle 25A |
|
ISO |
protein:increased expression:vulva |
RGD |
PMID:20500813 |
RGD:2729590 |
NCBI chr 3:48,068,601...48,099,806
Ensembl chr 3:49,154,307...49,186,115
|
|
G |
CDC25B |
cell division cycle 25B |
disease_progression |
ISO |
protein:increased expression:vulva |
RGD |
PMID:20500813 |
RGD:2729590 |
NCBI chr20:3,877,255...3,883,458
Ensembl chr20:3,626,107...3,645,179
|
|
G |
CDC25C |
cell division cycle 25C |
disease_progression |
ISO |
protein:increased expression:vulva |
RGD |
PMID:20500813 |
RGD:2729590 |
NCBI chr 5:133,663,210...133,717,974
Ensembl chr 5:139,795,565...139,842,698
|
|
G |
SFN |
stratifin |
|
ISO |
DNA, mRNA:hypermethylation, decreased expression:vulva |
RGD |
PMID:11896620 |
RGD:2299936 |
NCBI chr 1:26,126,212...26,127,761
Ensembl chr 1:27,182,834...27,183,580
|
|
|
G |
CXCR4 |
C-X-C motif chemokine receptor 4 |
|
ISO |
ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis |
OMIM ClinVar |
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 PMID:17803866 PMID:18436740 PMID:19043667 PMID:19476565 PMID:19956569 PMID:20472031 PMID:20736454 PMID:21070597 PMID:22748845 PMID:23009155 PMID:23794067 PMID:25571909 PMID:25662009 PMID:25741868 PMID:28353164 PMID:28492532 PMID:29659363 PMID:30819232 PMID:31313072 PMID:31493092 PMID:32784523 PMID:34573280 PMID:35947323 PMID:36089616 More...
|
|
NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647
|
|
G |
DARS1 |
aspartyl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:23,876,931...23,956,032
Ensembl chr2B:139,977,483...140,056,836
|
|
G |
LCT |
lactase |
|
ISO |
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:24,025,383...24,079,779
Ensembl chr2B:139,855,605...139,908,764
|
|
G |
MCM6 |
minichromosome maintenance complex component 6 |
|
ISO |
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:23,986,278...24,023,045
Ensembl chr2B:139,911,909...139,947,687
|
|
G |
R3HDM1 |
R3H domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:24,141,258...24,331,499
Ensembl chr2B:139,654,036...139,793,678
|
|
G |
RAB3GAP1 |
RAB3 GTPase activating protein catalytic subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:24,692,363...24,810,685
Ensembl chr2B:139,125,375...139,242,721
|
|
G |
UBXN4 |
UBX domain protein 4 |
|
ISO |
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:24,081,450...24,124,876
Ensembl chr2B:139,810,274...139,850,671
|
|
G |
ZRANB3 |
zinc finger RANBP2-type containing 3 |
|
ISO |
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis |
ClinVar |
PMID:28492532 |
|
NCBI chr2B:24,331,731...24,665,652
Ensembl chr2B:139,234,909...139,577,193
|
|
|
G |
TMTC4 |
transmembrane O-mannosyltransferase targeting cadherins 4 |
|
ISO |
ClinVar Annotator: match by term: Worster-Drought syndrome |
ClinVar |
PMID:24375697 |
|
NCBI chr13:81,771,668...81,841,926
Ensembl chr13:100,910,277...100,976,164
|
|