RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Pharyngeal Diseases
Accession: DOID:9004130
browse the term
Definition: Pathological processes involving the PHARYNX.
Synonyms: exact_synonym: diseases of pharynx; disorder of pharynx; pharyngeal disease; pharynx disease; pharynx diseases
primary_id: MESH:D010608
xref: MONDO:0020592
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Aaas
aladin WD repeat nucleoporin
susceptibility
ISO
RGD
PMID:16098009 PMID:16098009
RGD:1598514 , RGD:1598514
NCBI chr 7:133,464,315...133,483,961
Ensembl chr 7:135,342,901...135,362,545
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Lmna
lamin A/C
ISS
OMIM:200400
MouseDO
NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072
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Nos1
nitric oxide synthase 1
ISS
OMIM:200400
MouseDO
NCBI chr12:44,276,011...44,456,371
Ensembl chr12:44,287,614...44,371,837
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RT1-Ba
RT1 class II, locus Ba
ISO
DNA:polymorphism (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24997987 PMID:11837716
RGD:5147806
NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphism (human) DNA:SNP::rs28688207 (human) DNA:polymorphism, haplotype CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24997987 PMID:11837716 PMID:30788115 PMID:30092016
RGD:5147806 , RGD:14974238 , RGD:14865011
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
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Spry2
sprouty RTK signaling antagonist 2
ISS
OMIM:200400
MouseDO
NCBI chr15:89,106,809...89,111,926
Ensembl chr15:89,103,731...89,115,074
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Vipr1
vasoactive intestinal peptide receptor 1
onset
ISO
DNA:SNP:intron:rs437876 (human)
RGD
PMID:19309439
RGD:5685626
NCBI chr 8:130,181,219...130,217,098
Ensembl chr 8:130,187,731...130,217,096
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Bud13
BUD13 homolog
ISO
ClinVar Annotator: match by term: Achalasia-progeroid syndrome
OMIM ClinVar
PMID:35670808
NCBI chr 8:46,575,124...46,590,964
Ensembl chr 8:55,471,810...55,487,649
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Aqp1
aquaporin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 4:85,812,784...85,824,964
Ensembl chr 4:85,812,784...85,830,504
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386
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Arid4b
AT-rich interaction domain 4B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr17:51,138,419...51,262,894
Ensembl chr17:55,833,908...55,958,382
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Arid5b
AT-rich interaction domain 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,306,712...20,489,686
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Aspm
assembly factor for spindle microtubules
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr13:53,625,584...53,674,489
Ensembl chr13:53,625,584...53,674,489
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Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629
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Atr
ATR serine/threonine kinase
treatment
ISO
RGD
PMID:32001675
RGD:150340693
NCBI chr 8:105,306,299...105,403,742
Ensembl chr 8:105,306,305...105,403,718
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Atrx
ATRX, chromatin remodeler
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr X:74,916,548...75,062,880
Ensembl chr X:74,916,548...75,062,880
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Bap1
BRCA1 associated deubiquitinase 1
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar
PMID:21642991 PMID:24894717 PMID:26166446 PMID:26452128 PMID:28492532
NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,452,974...6,461,952
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Bcl11a
BCL11 transcription factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr14:102,230,147...102,325,289
Ensembl chr14:102,231,113...102,325,623
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Bcor
BCL6 co-repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr X:13,282,431...13,402,254
Ensembl chr X:13,360,376...13,402,254
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Bcorl1
BCL6 co-repressor-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr X:132,394,703...132,462,414
Ensembl chr X:132,397,069...132,461,976
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Brca1
BRCA1, DNA repair associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,917,693...86,977,763
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Brd1
bromodomain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 7:121,653,859...121,701,700
Ensembl chr 7:121,653,859...121,701,700
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Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:209,518,288...209,527,810
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17520682
NCBI chr19:51,402,178...51,471,572
Ensembl chr19:51,402,034...51,471,565
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Cmtr2
cap methyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr19:55,100,135...55,106,966
Ensembl chr19:55,099,843...55,124,234
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Cntn6
contactin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 4:137,354,886...137,751,712
Ensembl chr 4:138,911,380...139,311,816
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Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,822,620...11,968,266
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Dapk1
death associated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr17:3,935,826...4,096,858
Ensembl chr17:3,935,625...4,096,581
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Dtl
denticleless E3 ubiquitin protein ligase homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr13:103,115,810...103,155,029
Ensembl chr13:105,646,908...105,686,174
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Dtx4
deltex E3 ubiquitin ligase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 1:209,457,719...209,545,163
Ensembl chr 1:218,832,284...218,917,130
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Efhd1
EF-hand domain family, member D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 9:87,938,259...87,984,917
Ensembl chr 9:95,386,169...95,432,798
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En1
engrailed homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr13:34,303,684...34,309,269
Ensembl chr13:34,303,702...34,309,269
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Ep300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:114,946,982...115,058,574
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Erbin
erbb2 interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 2:34,926,962...35,028,440
Ensembl chr 2:36,660,399...36,762,153
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Espl1
extra spindle pole bodies like 1, separase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 7:135,302,460...135,329,570
Ensembl chr 7:135,302,716...135,329,570
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Fanca
FA complementation group A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr19:68,210,562...68,271,080
Ensembl chr19:68,212,643...68,271,019
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Fat1
FAT atypical cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr16:53,909,759...54,029,175
Ensembl chr16:53,909,556...54,028,609
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Fbxw7
F-box and WD repeat domain containing 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 2:172,447,738...172,609,591
Ensembl chr 2:172,447,738...172,609,591
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Fgf16
fibroblast growth factor 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr X:74,882,863...74,893,598
Ensembl chr X:74,882,995...74,944,246
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Fgfr4
fibroblast growth factor receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr17:9,466,686...9,481,423
Ensembl chr17:9,466,692...9,481,389
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Foxo3
forkhead box O3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr20:47,251,968...47,348,254
Ensembl chr20:47,255,878...47,346,845
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Foxp2
forkhead box P2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 4:44,099,848...44,677,700
Ensembl chr 4:44,099,959...44,677,696
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Gas2
growth arrest-specific 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 1:110,587,952...110,721,572
Ensembl chr 1:110,717,312...110,718,541
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Gas6
growth arrest specific 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr16:82,747,676...82,778,090
Ensembl chr16:82,747,345...82,778,088
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Gins2
GINS complex subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr19:48,626,770...48,639,523
Ensembl chr19:65,535,492...65,548,052
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Gucy1a1
guanylate cyclase 1 soluble subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 2:169,716,684...169,780,360
Ensembl chr 2:169,716,709...169,779,737
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H1f4
H1.4 linker histone, cluster member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr17:41,914,425...41,915,206
Ensembl chr17:41,914,431...41,916,129
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Homer3
homer scaffold protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr16:19,166,141...19,176,701
Ensembl chr16:19,165,482...19,176,640
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Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:205,725,975...205,729,590
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 More...
NCBI chr 9:74,027,887...74,057,442
Ensembl chr 9:74,027,892...74,049,555
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Igfbp2
insulin-like growth factor binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 9:81,864,811...81,892,179
Ensembl chr 9:81,864,783...81,892,171
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Il17rd
interleukin 17 receptor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr16:2,228,438...2,295,122
Ensembl chr16:2,235,169...2,301,850
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Insrr
insulin receptor-related receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:175,553,293...175,572,676
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Irx4
iroquois homeobox 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:31,859,101...31,868,089
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Isyna1
inositol-3-phosphate synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr16:18,839,143...18,841,979
Ensembl chr16:18,873,121...18,875,955
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Itgb4
integrin subunit beta 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,705,587...101,741,932
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Jag1
jagged canonical Notch ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:144,859,453...144,894,872
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Jmjd1c
jumonji domain containing 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr20:21,332,147...21,494,220
Ensembl chr20:21,330,990...21,461,916
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Kansl1
KAT8 regulatory NSL complex subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,737,637...89,868,620
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Kat6a
lysine acetyltransferase 6A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr16:75,787,411...75,868,584
Ensembl chr16:75,787,411...75,866,099
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Kdm6a
lysine demethylase 6A
exacerbates
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple: (human) DNA:splice-site mutation, missense mutations:splice junction, CDS:multiple: (human)
CTD RGD
PMID:23685749 PMID:31483290 PMID:23685749
RGD:150429736 , RGD:150429732
NCBI chr X:6,920,374...7,060,027
Ensembl chr X:6,920,343...7,059,960
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Kdm6b
lysine demethylase 6B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr10:54,619,520...54,641,014
Ensembl chr10:54,619,544...54,629,610
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Kmt2c
lysine methyltransferase 2C
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23685749 PMID:31483290
RGD:150429736
NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:10,353,735...10,568,620
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Krt15
keratin 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr10:85,066,797...85,070,614
Ensembl chr10:85,567,202...85,571,142
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Krt5
keratin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 7:134,724,840...134,730,569
Ensembl chr 7:134,724,840...134,730,569
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Magi1
membrane associated guanylate kinase, WW and PDZ domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 4:127,762,590...128,368,228
Ensembl chr 4:127,762,590...128,367,833
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Magi2
membrane associated guanylate kinase, WW and PDZ domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 4:15,278,518...16,762,427
Ensembl chr 4:15,278,518...16,762,199
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Maml3
mastermind-like transcriptional coactivator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 2:137,871,267...138,288,615
Ensembl chr 2:137,871,267...138,287,960
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Map2k2
mitogen activated protein kinase kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 7:9,241,449...9,264,216
Ensembl chr 7:9,241,310...9,260,940
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Marcks
myristoylated alanine rich protein kinase C substrate
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr20:42,240,185...42,245,882
Ensembl chr20:42,240,185...42,245,882
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Mark2
microtubule affinity regulating kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 1:213,890,213...213,955,417
Ensembl chr 1:213,890,213...213,955,149
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Mga
MAX dimerization protein MGA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:127,328,264...127,394,826
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Mier2
MIER family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 7:10,153,501...10,169,381
Ensembl chr 7:10,804,268...10,819,979
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Mlc1
modulator of VRAC current 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 7:121,926,356...121,949,484
Ensembl chr 7:121,926,356...121,946,698
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Morf4l1
mortality factor 4 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 8:90,642,988...90,664,518
Ensembl chr 8:99,500,898...99,544,331
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Myb
MYB proto-oncogene, transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749 PMID:26829750
NCBI chr 1:17,759,309...17,793,306
Ensembl chr 1:17,759,309...17,792,547
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Mybl1
MYB proto-oncogene like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 5:9,582,905...9,618,179
Ensembl chr 5:14,365,768...14,399,588
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Mycbp
Myc binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 5:136,135,955...136,143,163
Ensembl chr 5:141,420,707...141,430,681
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 6:41,446,683...41,452,584
Ensembl chr 6:41,446,684...41,452,508
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Neto2
neuropilin and tolloid like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr19:37,517,518...37,588,961
Ensembl chr19:37,517,587...37,591,413
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Nfib
nuclear factor I/B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 5:101,805,168...102,020,618
Ensembl chr 5:101,805,168...102,019,945
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Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613
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Nsd1
nuclear receptor binding SET domain protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr17:9,317,085...9,431,528
Ensembl chr17:9,317,085...9,452,250
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Ntrk3
neurotrophic receptor tyrosine kinase 3
treatment
ISO
RGD
PMID:23027130
RGD:150519921
NCBI chr 1:141,526,192...141,913,575
Ensembl chr 1:141,542,569...141,913,004
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Pcsk1n
proprotein convertase subtilisin/kexin type 1 inhibitor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr X:17,251,963...17,255,405
Ensembl chr X:17,251,965...17,257,360
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Pdzk1
PDZ domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 2:187,064,995...187,096,348
Ensembl chr 2:187,065,013...187,096,806
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411
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Prkdc
protein kinase, DNA-activated, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr11:98,544,952...98,762,499
Ensembl chr11:98,544,954...98,762,108
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330
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Pygb
glycogen phosphorylase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 3:160,072,141...160,118,930
Ensembl chr 3:160,072,115...160,123,961
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Rbfox2
RNA binding fox-1 homolog 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 7:110,691,230...110,934,901
Ensembl chr 7:110,691,230...110,934,987
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Serpinf1
serpin family F member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898
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Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:119,390,207...119,475,863
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Slc24a3
solute carrier family 24 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 3:153,005,418...153,504,497
Ensembl chr 3:153,004,987...153,504,497
G
Slc3a2
solute carrier family 3 member 2
disease_progression
ISO
RGD
PMID:23516127
RGD:151361211
NCBI chr 1:215,033,601...215,048,064
Ensembl chr 1:215,033,601...215,048,064
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Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:23516127
RGD:151361211
NCBI chr19:66,843,808...66,872,412
Ensembl chr19:66,843,808...66,872,412
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Smarca2
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 1:233,617,277...233,784,908
Ensembl chr 1:233,617,366...233,784,869
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Smarce1
SWI/SNF related BAF chromatin remodeling complex subunit E1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr10:84,655,468...84,678,259
Ensembl chr10:84,655,468...84,676,185
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Smc1a
structural maintenance of chromosomes 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr X:24,582,732...24,627,462
Ensembl chr X:24,582,690...24,627,462
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Son
SON DNA and RNA binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr11:44,336,818...44,409,127
Ensembl chr11:44,377,976...44,409,127
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Sox11
SRY-box transcription factor 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 6:49,736,773...49,738,794
Ensembl chr 6:49,736,304...49,738,691
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Sox4
SRY-box transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr17:35,876,298...35,881,004
Ensembl chr17:35,875,756...35,884,024
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Srcap
Snf2-related CREBBP activator protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:191,554,043...191,604,265
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St3gal4
ST3 beta-galactoside alpha-2,3-sialyltransferase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 8:41,673,510...41,723,158
Ensembl chr 8:41,673,510...41,712,551
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Tlk1
tousled-like kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 3:55,520,559...55,627,580
Ensembl chr 3:75,928,303...76,035,059
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Top2a
DNA topoisomerase II alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr10:84,441,954...84,473,093
Ensembl chr10:84,441,954...84,473,366
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Tp53
tumor protein p53
disease_progression
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1673792 PMID:1686725 PMID:7707106 PMID:7881428 PMID:8080050 PMID:8364550 PMID:8869100 PMID:10713666 PMID:11479205 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12826609 PMID:16494995 PMID:16736287 PMID:16861262 PMID:17541742 PMID:17606709 PMID:18208484 PMID:19468865 PMID:20128691 PMID:20522432 PMID:21343334 PMID:21626334 PMID:23259501 PMID:23625637 PMID:23685749 PMID:24033266 PMID:24384472 PMID:24728327 PMID:25503501 PMID:25584008 PMID:25741868 PMID:26270727 PMID:26467025 PMID:26619011 PMID:27489289 PMID:28369373 PMID:28492532 PMID:28861920 PMID:29324801 PMID:29489754 PMID:29979965 PMID:30224644 PMID:30299350 PMID:30720243 PMID:31775759 PMID:16249115 More...
RGD:8547828
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
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Uhrf1
ubiquitin-like with PHD and ring finger domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 9:1,220,162...1,241,792
Ensembl chr 9:1,222,063...1,241,792
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Vcan
versican
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 2:22,497,035...22,595,955
Ensembl chr 2:22,497,035...22,595,955
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Wnt5b
Wnt family member 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 4:154,281,852...154,406,081
Ensembl chr 4:154,281,852...154,405,681
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Xrn2
5'-3' exoribonuclease 2
ISO
DNA:hypermethylation:3' utr: (human)
RGD
PMID:21692051
RGD:11041796
NCBI chr 3:154,888,558...154,962,519
Ensembl chr 3:154,890,061...154,962,486
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Hnf1a
HNF1 homeobox A
ISO
RGD
PMID:10489374
RGD:150540314
NCBI chr12:47,299,171...47,333,457
Ensembl chr12:47,306,245...47,332,755
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Aamp
angio-associated, migratory cell protein
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:75,863,382...75,869,188
Ensembl chr 9:83,312,519...83,318,325
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Abcb6
ATP binding cassette subfamily B member 6
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:84,117,222...84,125,939
Ensembl chr 9:84,117,220...84,125,526
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Ankzf1
ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:84,136,862...84,143,830
Ensembl chr 9:84,136,862...84,145,091
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Arpc2
actin related protein 2/3 complex, subunit 2
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:75,820,782...75,851,471
Ensembl chr 9:83,269,932...83,305,409
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Asic4
acid sensing ion channel subunit family member 4
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:76,941,532...76,962,900
Ensembl chr 9:84,390,104...84,411,538
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Atg9a
autophagy related 9A
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:84,126,071...84,136,723
Ensembl chr 9:84,126,071...84,136,666
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Bcs1l
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,614,045...83,618,052
Ensembl chr 9:83,613,975...83,618,257
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Catip
ciliogenesis associated TTC17 interacting protein
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,395,095...83,402,743
Ensembl chr 9:83,394,896...83,402,740
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Cdk5r2
cyclin-dependent kinase 5 regulatory subunit 2
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,864,922...83,866,390
Ensembl chr 9:83,864,726...83,867,618
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Cfap65
cilia and flagella associated protein 65
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,907,882...83,942,812
Ensembl chr 9:83,907,276...83,942,714
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Chpf
chondroitin polymerizing factor
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:84,411,824...84,416,523
Ensembl chr 9:84,411,829...84,416,523
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Cnot9
CCR4-NOT transcription complex subunit 9
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,533,369...83,558,207
Ensembl chr 9:83,533,369...83,558,197
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Cnppd1
cyclin Pas1/PHO80 domain containing 1
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:84,082,148...84,088,888
Ensembl chr 9:84,082,149...84,089,788
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Cryba2
crystallin, beta A2
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,895,921...83,906,651
Ensembl chr 9:83,895,922...83,899,131
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Ctdsp1
CTD small phosphatase 1
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,422,755...83,428,411
Ensembl chr 9:83,423,051...83,428,412
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Cxcr1
C-X-C motif chemokine receptor 1
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:75,766,894...75,771,079
Ensembl chr 9:83,215,292...83,226,872
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Cxcr2
C-X-C motif chemokine receptor 2
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,178,645...83,185,017
Ensembl chr 9:83,183,808...83,188,602
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Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,712,402...83,743,222
Ensembl chr 9:83,713,293...83,743,215
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Des
desmin
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:84,299,626...84,307,344
Ensembl chr 9:84,298,447...84,307,347
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Dnajb2
DnaJ heat shock protein family (Hsp40) member B2
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:84,179,702...84,187,942
Ensembl chr 9:84,179,695...84,187,942
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Dnpep
aspartyl aminopeptidase
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:84,248,581...84,257,484
Ensembl chr 9:84,233,486...84,256,977
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Fev
FEV transcription factor, ETS family member
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,887,844...83,891,718
Ensembl chr 9:83,887,844...83,891,737
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Glb1l
galactosidase, beta 1-like
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:84,141,993...84,154,176
Ensembl chr 9:84,143,841...84,154,176
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Gmppa
GDP-mannose pyrophosphorylase A
ISO ISS
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome OMIM:615510
OMIM ClinVar MouseDO
PMID:24035193 PMID:25741868 PMID:27717089 PMID:28492532 PMID:28574218 PMID:29302074 PMID:29593478 PMID:35607266 PMID:35665995 More...
NCBI chr 9:84,375,373...84,382,917
Ensembl chr 9:84,375,425...84,382,916
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Gpbar1
G protein-coupled bile acid receptor 1
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,309,895...83,312,397
Ensembl chr 9:83,311,246...83,315,608
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Ihh
Indian hedgehog signaling molecule
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,952,986...83,959,203
Ensembl chr 9:83,952,986...83,959,203
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Mir26b
microRNA 26b
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,425,709...83,425,793
Ensembl chr 9:83,425,709...83,425,793
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Mir375
microRNA 375
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,906,582...83,906,656
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Nhej1
nonhomologous end-joining factor 1
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,974,995...84,071,161
Ensembl chr 9:83,974,997...84,070,594
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Obsl1
obscurin like cytoskeletal adaptor 1
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:76,967,802...76,993,771
Ensembl chr 9:84,416,240...84,442,415
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Plcd4
phospholipase C, delta 4
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,564,616...83,613,742
Ensembl chr 9:83,564,606...83,606,454
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Pnkd
PNKD metallo-beta-lactamase domain containing
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,317,757...83,386,263
Ensembl chr 9:83,317,738...83,386,262
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Prkag3
protein kinase AMP-activated non-catalytic subunit gamma 3
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,744,385...83,753,629
Ensembl chr 9:83,744,385...83,753,729
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Ptprn
protein tyrosine phosphatase, receptor type, N
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:84,189,676...84,205,364
Ensembl chr 9:84,189,676...84,204,850
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Resp18
regulated endocrine-specific protein 18
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:84,213,844...84,220,186
Ensembl chr 9:84,213,467...84,221,299
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Retreg2
reticulophagy regulator family member 2
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:84,088,935...84,095,072
Ensembl chr 9:84,088,964...84,094,837
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Rnf25
ring finger protein 25
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,619,148...83,626,020
Ensembl chr 9:83,619,149...83,627,263
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Slc11a1
solute carrier family 11 member 1
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:83,406,427...83,417,238
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Slc23a3
solute carrier family 23, member 3
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:84,071,286...84,081,951
Ensembl chr 9:84,071,471...84,080,037
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Speg
striated muscle enriched protein kinase
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:84,314,387...84,371,816
Ensembl chr 9:84,314,387...84,371,813
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Stk16
serine/threonine kinase 16
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:84,154,285...84,157,521
Ensembl chr 9:84,148,623...84,157,521
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Stk36
serine/threonine kinase 36
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,625,905...83,652,785
Ensembl chr 9:83,626,030...83,653,525
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Tmbim1
transmembrane BAX inhibitor motif containing 1
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,320,972...83,338,469
Ensembl chr 9:83,320,979...83,338,657
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Tmem198
transmembrane protein 198
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:76,968,079...76,974,131
Ensembl chr 9:84,416,752...84,422,758
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Ttll4
tubulin tyrosine ligase like 4
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,670,788...83,706,891
Ensembl chr 9:83,681,025...83,700,404
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Tuba4a
tubulin, alpha 4A
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:84,158,871...84,174,041
Ensembl chr 9:84,158,280...84,162,584
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Usp37
ubiquitin specific peptidase 37
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,467,966...83,567,848
Ensembl chr 9:83,467,966...83,533,172
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Vil1
villin 1
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,440,248...83,467,963
Ensembl chr 9:83,440,248...83,467,961
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Wnt10a
Wnt family member 10A
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,798,594...83,811,060
Ensembl chr 9:83,798,594...83,811,067
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Wnt6
Wnt family member 6
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,778,552...83,792,186
Ensembl chr 9:83,778,552...83,792,186
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Zfand2b
zinc finger AN1-type containing 2B
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:84,114,170...84,117,115
Ensembl chr 9:84,114,190...84,117,554
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Zfp142
zinc finger protein 142
ISO
ClinVar Annotator: match by term: ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME
ClinVar
PMID:28492532
NCBI chr 9:83,591,318...83,613,896
Ensembl chr 9:83,591,318...83,613,896
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Matr3
matrin 3
ISO ISS
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Distal myopathy with vocal cord weakness | ClinVar Annotator: match by term: Myopathy, distal, 2 OMIM:606070 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 PMID:25154462 PMID:25185957 PMID:25677933 PMID:25741868 PMID:25771394 PMID:25952333 PMID:26467025 PMID:26493020 PMID:26528920 PMID:26780671 PMID:28029397 PMID:28492532 PMID:29109432 PMID:30015619 PMID:30563574 PMID:31019288 PMID:32028661 PMID:32528171 PMID:32987860 PMID:37952009 More...
NCBI chr18:27,428,190...27,474,421
Ensembl chr18:27,432,179...27,470,421
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Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: BRANCHIAL CLEFT ANOMALIES
ClinVar
PMID:22126750 PMID:22740433 PMID:22786791 PMID:25741868 PMID:27302555 PMID:28492532 PMID:29725259 PMID:31727177 PMID:32170002 PMID:36672956 More...
NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:131,859,696...131,900,072
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Cenpc
centromere protein C
ISO
associated with Anticentromere antibody positivity
RGD
PMID:25220385
RGD:27372886
NCBI chr14:22,342,910...22,401,522
Ensembl chr14:22,342,927...22,438,590
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Fbn1
fibrillin 1
ISO
RGD
PMID:10395706
RGD:12910471
NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283
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Atr
ATR serine/threonine kinase
ISO
ClinVar Annotator: match by term: Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
OMIM ClinVar
PMID:9536098 PMID:15987455 PMID:17010193 PMID:17576681 PMID:18414213 PMID:22341969 PMID:24033266 PMID:25741868 PMID:26845104 PMID:28492532 PMID:28518168 PMID:30262796 PMID:30995915 PMID:32461654 PMID:32522261 PMID:32606146 PMID:33057211 PMID:34008015 More...
NCBI chr 8:105,306,299...105,403,742
Ensembl chr 8:105,306,305...105,403,718
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Megf10
multiple EGF-like domains 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22101682
NCBI chr18:52,803,292...52,953,431
Ensembl chr18:52,847,781...52,950,675
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Neb
nebulin
ISO
ClinVar Annotator: match by term: Dysphagia
ClinVar
PMID:24056153 PMID:25205138 PMID:25741868 PMID:28492532
NCBI chr 3:57,022,822...57,220,752
Ensembl chr 3:57,022,822...57,220,709
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Rif1
replication timing regulatory factor 1
ISO
ClinVar Annotator: match by term: Dysphagia
ClinVar
PMID:24056153 PMID:25205138 PMID:25741868 PMID:28492532
NCBI chr 3:56,963,840...57,017,106
Ensembl chr 3:56,963,854...57,017,106
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Slc6a3
solute carrier family 6 member 3
ISO
ClinVar Annotator: match by term: Dysphagia
ClinVar
NCBI chr 1:31,537,990...31,578,962
Ensembl chr 1:31,537,990...31,578,962
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Tamm41
TAM41 mitochondrial translocator assembly and maintenance homolog
ISO
ClinVar Annotator: match by term: Dysphagia
ClinVar
PMID:35321494
NCBI chr 4:149,743,216...149,776,388
Ensembl chr 4:149,699,693...149,776,369
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Tsen2
tRNA splicing endonuclease subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18711368
NCBI chr 4:148,602,805...148,638,219
Ensembl chr 4:150,275,501...150,313,013
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Tsen34
tRNA splicing endonuclease subunit 34
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18711368
NCBI chr 1:65,517,324...65,525,194
Ensembl chr 1:74,432,685...74,440,832
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Tsen54
tRNA splicing endonuclease subunit 54
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18711368
NCBI chr10:101,041,607...101,050,088
Ensembl chr10:101,540,329...101,549,363
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Uchl1
ubiquitin C-terminal hydrolase L1
ISO
DNA:deletion
RGD
PMID:11555633
RGD:1302546
NCBI chr14:41,838,859...41,849,743
Ensembl chr14:41,838,861...41,849,417
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Uchl3
ubiquitin C-terminal hydrolase L3
ISO
RGD
PMID:11555633
RGD:1302546
NCBI chr15:78,485,304...78,527,355
Ensembl chr15:84,899,806...84,942,095 Ensembl chr 3:84,899,806...84,942,095
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Megf10
multiple EGF-like domains 10
ISO
ClinVar Annotator: match by term: MEGF10-related myopathy
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17236770 PMID:17576681 PMID:22101682 PMID:22371254 PMID:23453856 PMID:23954233 PMID:24033266 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26802438 PMID:28492532 PMID:28498977 PMID:31127727 PMID:31501239 PMID:35370044 PMID:36349186 More...
NCBI chr18:52,803,292...52,953,431
Ensembl chr18:52,847,781...52,950,675
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Abat
4-aminobutyrate aminotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21552517
NCBI chr10:7,503,351...7,599,474
Ensembl chr10:7,492,022...7,599,474
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Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Gastroesophageal reflux
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:27538677 PMID:32027066 PMID:32792356 PMID:33565752 PMID:36208030 More...
NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:105,734,992...105,815,982
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Actl6a
actin-like 6A
ISO
ClinVar Annotator: match by term: Gastroesophageal reflux
ClinVar
PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175
NCBI chr 2:117,413,206...117,436,758
Ensembl chr 2:117,418,601...117,436,754
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Ccl26
C-C motif chemokine ligand 26
ISO
protein:increased expression:esophagus (human)
RGD
PMID:17900656
RGD:11081162
NCBI chr12:26,745,972...26,750,924
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Pla2g2a
phospholipase A2 group IIA
ISO
RGD
PMID:19672667
RGD:6482726
NCBI chr 5:156,359,725...156,362,302
Ensembl chr 5:156,359,725...156,362,297
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21451212
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320
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Tac1
tachykinin, precursor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20616304
NCBI chr 4:36,645,344...36,653,548
Ensembl chr 4:36,645,571...36,653,546
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Tlr2
toll-like receptor 2
ISO
protein:decreased expression:sputum, macrophage
RGD
PMID:21426732
RGD:7240539
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
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Tp63
tumor protein p63
ISS
OMIM:109350
MouseDO
NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177
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Zfp469
zinc finger protein 469
ISO
ClinVar Annotator: match by term: Gastroesophageal reflux
ClinVar
PMID:25741868
NCBI chr19:50,282,337...50,324,010
Ensembl chr19:67,190,901...67,232,569
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Sod2
superoxide dismutase 2
susceptibility
ISO
DNA:polymorphism: :rs5746134(human)
RGD
PMID:21940907
RGD:8158078
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168
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Gucy1a1
guanylate cyclase 1 soluble subunit alpha 1
ISO
ClinVar Annotator: match by term: GUCY1A1-related condition | ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia
OMIM ClinVar
PMID:24581742 PMID:25741868 PMID:26777256 PMID:28492532
NCBI chr 2:169,716,684...169,780,360
Ensembl chr 2:169,716,709...169,779,737
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Ccnd1
cyclin D1
onset
ISO
DNA:polymorphism: :870A>G
RGD
PMID:18355450
RGD:2296033
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:209,518,288...209,527,810
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Ctps1
CTP synthase 1
ISO
mRNA:increased expression:nasopharynx (human)
RGD
PMID:19302751
RGD:5132859
NCBI chr 5:139,372,349...139,440,441
Ensembl chr 5:139,410,249...139,440,465
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Ednra
endothelin receptor type A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17032313
NCBI chr19:47,137,360...47,207,961
Ensembl chr19:47,137,771...47,201,284
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21786012
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:95,378,626...95,551,358
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Mecom
MDS1 and EVI1 complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20512145
NCBI chr 2:114,837,815...115,393,052
Ensembl chr 2:114,837,840...115,393,038
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17607721
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856
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Rassf2
Ras association domain family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17013896
NCBI chr 3:119,244,288...119,280,462
Ensembl chr 3:139,697,187...139,733,368
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Tnfrsf19
TNF receptor superfamily member 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20512145
NCBI chr15:39,268,305...39,334,566
Ensembl chr15:39,268,305...39,356,438
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Nasopharyngeal Neoplasms
ClinVar
PMID:1631151 PMID:6736287 PMID:7707106 PMID:7885831 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8164043 PMID:8344492 PMID:8464896 PMID:8633021 PMID:8825920 PMID:8869100 PMID:9546439 PMID:9632751 PMID:10589545 PMID:10871862 PMID:10914716 PMID:11370630 PMID:11782540 PMID:12007217 PMID:12124823 PMID:12826609 PMID:15607980 PMID:15607981 PMID:15825182 PMID:16288208 PMID:16401470 PMID:16494995 PMID:16736287 PMID:16818505 PMID:16861262 PMID:17541742 PMID:17606709 PMID:17724467 PMID:18208484 PMID:18555592 PMID:19468865 PMID:19834951 PMID:20128691 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:21343334 PMID:21514416 PMID:21519010 PMID:21626334 PMID:21761402 PMID:22006311 PMID:22186996 PMID:22915647 PMID:22999923 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23265383 PMID:23334668 PMID:23792586 PMID:24033266 PMID:24384472 PMID:24573247 PMID:24728327 PMID:25503501 PMID:25741868 PMID:25927356 PMID:25952993 PMID:26024390 PMID:26230955 PMID:26270727 PMID:26467025 PMID:26585234 PMID:26619011 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28135145 PMID:28369373 PMID:28492532 PMID:28724667 PMID:28861920 PMID:29076966 PMID:29489754 PMID:29979965 PMID:30216591 PMID:30224644 PMID:30299350 PMID:30327374 PMID:30720243 PMID:30840781 PMID:31119730 PMID:31296311 PMID:31775759 PMID:32019277 PMID:33245408 PMID:33300245 PMID:33332384 PMID:33633026 PMID:34266904 PMID:35820297 PMID:15118671 More...
RGD:1331525
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
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Wif1
Wnt inhibitory factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17384664
NCBI chr 7:58,433,326...58,503,853
Ensembl chr 7:58,384,643...58,503,852
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Ptch1
patched 1
ISO
mRNA:decreased expression:epithelium of nasopharynx
RGD
PMID:23001130
RGD:150523839
NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461
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Arid1a
AT-rich interaction domain 1A
disease_progression
ISO
protein:decreased expression:nasopharynx(human)
RGD
PMID:31213911
RGD:126781707
NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386
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Atm
ATM serine/threonine kinase
treatment
ISO
protein:decreased expression:epithelium of nasopharynx (human) associated with Epstein-Barr Virus Infections;mRNA:decreased expression:nasopharyngeal tissue (human)
RGD
PMID:29230817 PMID:19142888 PMID:28820634
RGD:126779560 , RGD:126790562 , RGD:150340692
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629
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Atr
ATR serine/threonine kinase
treatment
ISO
RGD
PMID:28820634
RGD:150340692
NCBI chr 8:105,306,299...105,403,742
Ensembl chr 8:105,306,305...105,403,718
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Bcl2
BCL2, apoptosis regulator
disease_progression
ISO
protein:increased expression:epithelium of nasopharynx (human)
RGD
PMID:12099337
RGD:11526103
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:23,204,464...23,366,900
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Brca1
BRCA1, DNA repair associated
ISO
DNA:nonsense mutation: :p.Q563* (human)
RGD
PMID:28857155
RGD:127229936
NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,917,693...86,977,763
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Btk
Bruton tyrosine kinase
ISO
mRNA:decreased expression:nasopharynx (human)
RGD
PMID:33096113
RGD:151347855
NCBI chr X:102,016,070...102,055,448
Ensembl chr X:102,016,074...102,055,143
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Calr
calreticulin
exacerbates disease_progression
ISO
protein:increased expression:epithelium of nasopharynx (human)
RGD
PMID:31632490 PMID:31956372
RGD:150520157 , RGD:150521689
NCBI chr19:40,213,367...40,218,262
Ensembl chr19:40,213,239...40,219,236
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Ccnd2
cyclin D2
disease_progression
ISO
RGD
PMID:20473882
RGD:151665334
NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:161,653,048...161,680,301 Ensembl chr 4:161,653,048...161,680,301
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Cd163
CD163 molecule
exacerbates
ISO
protein:increased expression:nasopharynx, macrophage (human)
RGD
PMID:28395580
RGD:127285800
NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:158,770,749...158,804,146
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Chrna5
cholinergic receptor nicotinic alpha 5 subunit
susceptibility
ISO
DNA:SNP: :rs3841324(human)
RGD
PMID:25329654
RGD:150527838
NCBI chr 8:64,265,879...64,294,233
Ensembl chr 8:64,265,879...64,294,233
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Clptm1l
CLPTM1-like
susceptibility
ISO
DNA:SNP: :rs401681(human) protein:increased expression:nasopharynx DNA:SNP:intron:rs31489(human)
RGD
PMID:26621837 PMID:26621837 PMID:26545403 PMID:31270100
RGD:11564613 , RGD:11564613 , RGD:11556976 , RGD:150537099
NCBI chr 1:31,496,094...31,512,148
Ensembl chr 1:31,496,094...31,512,077
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Cr2
complement C3d receptor 2
susceptibility
ISO
DNA:SNP:5'UTR:24T>C (rs3813946)(human)
RGD
PMID:23612877
RGD:127338247
NCBI chr13:109,207,034...109,244,980
Ensembl chr13:109,213,867...109,244,552
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Csf1r
colony stimulating factor 1 receptor
treatment
ISO
RGD
PMID:22267178
RGD:150524299
NCBI chr18:56,834,152...56,860,804
Ensembl chr18:56,817,049...56,860,806
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Cxcr4
C-X-C motif chemokine receptor 4
disease_progression exacerbates
ISO
mRNA:increased expression:nasopharynx (human) protein:increased expression:nasopharynx (human)
RGD
PMID:26611644 PMID:15978137
RGD:152023644 , RGD:152177484
NCBI chr13:42,630,383...42,634,288
Ensembl chr13:42,630,104...42,634,459
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
DNA:SNP: :rs2031920 (human)
RGD
PMID:26582733
RGD:11061495
NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:205,267,505...205,293,495
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Dab2ip
DAB2 interacting protein
disease_progression
ISO
mRNA,protein:decreased expression:epithelium of nasopharynx (human)
RGD
PMID:28586035
RGD:151665144
NCBI chr 3:39,312,745...39,483,730
Ensembl chr 3:39,312,745...39,483,730
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Ddr2
discoidin domain receptor tyrosine kinase 2
ISO
mRNA:increased expression:epithelium of nasopharynx
RGD
PMID:18023033
RGD:150429715
NCBI chr13:84,726,412...84,851,032
Ensembl chr13:84,731,180...84,850,288
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Efnb2
ephrin B2
disease_progression
ISO
protein:increased expression:nasopharynx (human)
RGD
PMID:23631129
RGD:153305949
NCBI chr16:87,485,215...87,529,224
Ensembl chr16:87,485,198...87,529,208
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Erbb3
erb-b2 receptor tyrosine kinase 3
disease_progression
ISO
RGD
PMID:24825912
RGD:126781774
NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:1,579,816...1,601,120
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression
ISO
mRNA, protein:increased expression:ventral nasal meatus
RGD
PMID:21300475
RGD:126779603
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:77,624,223...77,687,183
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Fgfr4
fibroblast growth factor receptor 4
severity
ISO
protein:increased expression:nasopharynx (human)
RGD
PMID:26535066
RGD:150520063
NCBI chr17:9,466,686...9,481,423
Ensembl chr17:9,466,692...9,481,389
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Flt1
Fms related receptor tyrosine kinase 1
disease_progression
ISO
RGD
PMID:16480593
RGD:126925191
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:12,333,430...12,504,750
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Fosl2
FOS like 2, AP-1 transcription factor subunit
ISO
mRNA:increased expression:nasopharynx (human)
RGD
PMID:30326930
RGD:153344557
NCBI chr 6:30,017,952...30,039,269
Ensembl chr 6:30,021,916...30,039,406
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Fubp1
far upstream element binding protein 1
exacerbates
ISO
protein:increased expression:nasopharynx (human)
RGD
PMID:26469968
RGD:11343512
NCBI chr 2:243,819,529...243,846,544
Ensembl chr 2:243,819,218...243,846,428
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Gpx1
glutathione peroxidase 1
susceptibility
ISO
DNA:missense mutation:CDS:p.P198L (human)
RGD
PMID:33616746
RGD:152995452
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581
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Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
ISO
protein:decreased expression:nasopharynx (human)
RGD
PMID:26681223
RGD:150539449
NCBI chr10:6,136,458...6,560,003
Ensembl chr10:6,138,037...6,551,378
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Gstm1
glutathione S-transferase mu 1
no_association
ISO
DNA:SNP: :1270533T>G (human)
RGD
PMID:24711137 PMID:19448408
RGD:14700933 , RGD:14700955
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569
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Jak2
Janus kinase 2
severity
ISO
protein:increased expression:mucosa of nasopharynx (human)
RGD
PMID:30123088
RGD:149735327
NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:236,408,662...236,468,762
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Kdm3a
lysine demethylase 3A
severity
ISO
protein:decreased expression:nasopharyngeal epithelium (human)
RGD
PMID:21541331
RGD:9590228
NCBI chr 4:105,189,208...105,233,526
Ensembl chr 4:105,189,208...105,233,370
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Kdr
kinase insert domain receptor
disease_progression
ISO
RGD
PMID:16480593
RGD:126925191
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192
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Kmt2c
lysine methyltransferase 2C
ISO
RGD
PMID:31646828
RGD:151356762
NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:10,353,735...10,568,620
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Map2k4
mitogen activated protein kinase kinase 4
ameliorates
ISO
DNA:SNP:promoter: -1304T>G, -1304G>G (human) associated with Epstein-Barr Virus Infections; DNA:SNPs:promoter: -1304G>G, -1304T>G (human)
RGD
PMID:27373035 PMID:21702039
RGD:150429759 , RGD:150429763
NCBI chr10:50,842,348...50,947,063
Ensembl chr10:50,844,034...50,947,185
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Mapk14
mitogen activated protein kinase 14
treatment
ISO
human cell line in a mouse model
RGD
PMID:32449282
RGD:151665502
NCBI chr20:6,751,288...6,812,294
Ensembl chr20:6,751,357...6,812,294
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Mir132
microRNA 132
treatment
ISO
RGD
PMID:29442000
RGD:151665745
NCBI chr10:60,522,033...60,522,133
Ensembl chr10:60,522,033...60,522,133
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Mir152
microRNA 152
ISO
miRNA:decreased expression:nasopharynx
RGD
PMID:28000885
RGD:19165149
NCBI chr10:82,329,383...82,329,467
Ensembl chr10:82,329,383...82,329,467
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Mir154
microRNA 154
disease_progression
ISO
RNA:decreased expression:epithelium of nasopharynx (human)
RGD
PMID:32214824
RGD:152995464
NCBI chr 6:134,574,352...134,574,435
Ensembl chr 6:134,574,352...134,574,435
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Mir222
microRNA 222
ISO
RNA:increased expression:nasopharynx
RGD
PMID:29115464
RGD:151708744
NCBI chr X:6,022,621...6,022,723
Ensembl chr X:6,022,621...6,022,723
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Mir31
microRNA 31
disease_progression ameliorates
ISO
RNA:decreased expression:peripheral blood mononuclear cell (human) Human cells in mouse model
RGD
PMID:31129965 PMID:25098679
RGD:152998936 , RGD:152998921
NCBI chr 5:108,714,849...108,714,954
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Mir423
microRNA 423
disease_progression
ISO
mRNA:decreased expression:nasopharynx (human)
RGD
PMID:30326930
RGD:153344557
NCBI chr10:62,412,272...62,412,350
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Mst1r
macrophage stimulating 1 receptor
susceptibility
ISO
ClinVar Annotator: match by term: MST1R-related condition | ClinVar Annotator: match by term: Nasopharyngeal carcinoma, susceptibility to, 3
OMIM ClinVar
PMID:25741868 PMID:26951679 PMID:28492532
NCBI chr 8:117,471,928...117,491,059
Ensembl chr 8:117,475,968...117,490,515
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Muc5b
mucin 5B, oligomeric mucus/gel-forming
IEP
RGD
PMID:19068094
RGD:2325214
NCBI chr 1:206,346,400...206,378,367
Ensembl chr 1:206,346,400...206,378,367
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Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Nasopharyngeal carcinoma
ClinVar
PMID:10480349 PMID:11182931 PMID:11333381 PMID:11349231 PMID:12408188 PMID:12554680 PMID:12813037 PMID:12955717 PMID:12974729 PMID:20301473 PMID:20489167 PMID:20981092 PMID:21550990 PMID:22995991 PMID:23433426 PMID:25741868 PMID:28492532 More...
NCBI chr18:3,654,237...3,699,853
Ensembl chr18:3,654,237...3,699,800
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Ppia
peptidylprolyl isomerase A
ISO
mRNA, protein:increased expression:blood serum, nasopharynx, extracellular exosome (human)
RGD
PMID:31063269
RGD:150429622
NCBI chr14:85,491,223...85,496,884
Ensembl chr14:85,492,484...85,497,115
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Rac1
Rac family small GTPase 1
exacerbates
ISO
protein:increased expression:nasopharynx (human)
RGD
PMID:19506399
RGD:153350125
NCBI chr12:16,150,411...16,170,864
Ensembl chr12:16,128,649...16,172,109
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Rad52
RAD52 homolog, DNA repair protein
severity
ISO
protein:increased expression:nasopharynx (human)
RGD
PMID:25026830
RGD:151361208
NCBI chr 4:154,778,320...154,802,002
Ensembl chr 4:154,778,320...154,800,021
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Snrpd1
small nuclear ribonucleoprotein D1 polypeptide
ISO
mRNA:increased expression:nasopharynx (human)
RGD
PMID:24080422
RGD:10755709
NCBI chr18:1,969,351...1,980,207
Ensembl chr18:1,969,674...1,980,207
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Snrpe
small nuclear ribonucleoprotein polypeptide E
ISO
mRNA:increased expression:nasopharynx (human)
RGD
PMID:24080422
RGD:10755709
NCBI chr13:47,596,324...47,609,390
Ensembl chr 8:129,294,325...129,294,603 Ensembl chr13:129,294,325...129,294,603
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Snrpf
small nuclear ribonucleoprotein polypeptide F
ISO
mRNA:increased expression:nasopharynx (human)
RGD
PMID:24080422
RGD:10755709
NCBI chr 7:30,017,460...30,024,162
Ensembl chr 7:30,017,460...30,024,162
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Snrpg
small nuclear ribonucleoprotein polypeptide G
ISO
mRNA:increased expression:nasopharynx (human)
RGD
PMID:24080422
RGD:10755709
NCBI chr 4:120,369,676...120,377,263
Ensembl chr 4:120,369,685...120,377,261 Ensembl chr X:120,369,685...120,377,261
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Spen
spen family transcriptional repressor
disease_progression
ISO
protein:increased expression:mucosa of nasopharynx (human)
RGD
PMID:32641685
RGD:151347437
NCBI chr 5:159,058,258...159,131,789
Ensembl chr 5:159,058,258...159,165,934
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Src
SRC proto-oncogene, non-receptor tyrosine kinase
disease_progression
ISO
RGD
PMID:27078847
RGD:150521726
NCBI chr 3:166,511,616...166,559,463
Ensembl chr 3:166,511,985...166,559,462
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Stat3
signal transducer and activator of transcription 3
severity
ISO
protein:increased expression:mucosa of nasopharynx (human)
RGD
PMID:30123088
RGD:149735327
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:86,311,535...86,363,359
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Tert
telomerase reverse transcriptase
ISO
protein:increased expression:nasopharynx
RGD
PMID:26621837
RGD:11564613
NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111
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Tet2
tet methylcytosine dioxygenase 2
severity
ISO
human cells in mouse model
RGD
PMID:32774157
RGD:150429610
NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:224,662,654...224,746,186
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Tnfaip3
TNF alpha induced protein 3
treatment
ISO
RGD
PMID:26149137
RGD:151347434
NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:15,528,921...15,543,979
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Nasopharyngeal carcinoma
OMIM ClinVar RGD
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1631151 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2932480 PMID:4122735 PMID:7565304 PMID:7651740 PMID:7732013 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8344492 PMID:8423216 PMID:8425176 PMID:8464896 PMID:8479749 PMID:8550239 PMID:8633021 PMID:8718514 PMID:8825920 PMID:9047394 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9399838 PMID:9546439 PMID:9572492 PMID:9582268 PMID:9607760 PMID:9627118 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9704931 PMID:9891044 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10486318 PMID:10519380 PMID:10589545 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10922393 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11479205 PMID:11481490 PMID:11521785 PMID:11600572 PMID:11753428 PMID:11782540 PMID:12007217 PMID:12019170 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14743206 PMID:15037740 PMID:15121773 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15741269 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16033918 PMID:16199549 PMID:16258005 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16551709 PMID:16682957 PMID:16750598 PMID:16818505 PMID:16861262 PMID:16933305 PMID:16964264 PMID:16969106 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17535973 PMID:17540308 PMID:17567834 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17940213 PMID:18248785 PMID:18270399 PMID:18307025 PMID:18373486 PMID:18511570 PMID:18555592 PMID:18685109 PMID:18940924 PMID:18989156 PMID:19046423 PMID:19101993 PMID:19127115 PMID:19367569 PMID:19454241 PMID:19521721 PMID:19556618 PMID:19711436 PMID:19714490 PMID:19717094 PMID:19850740 PMID:19877175 PMID:19881536 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20301488 PMID:20407015 PMID:20436704 PMID:20455025 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21118481 PMID:21187651 PMID:21192060 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21440489 PMID:21445056 PMID:21445348 PMID:21464421 PMID:21468523 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21630152 PMID:21665182 PMID:21665242 PMID:21672450 PMID:21761402 PMID:22004116 PMID:22006311 PMID:22110706 PMID:22170717 PMID:22186996 PMID:22233476 PMID:22455664 PMID:22619358 PMID:22653678 PMID:22703879 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22915647 PMID:22923379 PMID:22999923 PMID:23056559 PMID:23161690 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23263379 PMID:23469205 PMID:23484829 PMID:23538418 PMID:23570263 PMID:23624782 PMID:23630318 PMID:23639312 PMID:23713777 PMID:23733769 PMID:23792586 PMID:23794094 PMID:23887774 PMID:23894400 PMID:24033266 PMID:24065105 PMID:24076587 PMID:24122735 PMID:24382691 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24651012 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24764719 PMID:24810334 PMID:24835218 PMID:24884479 PMID:24936644 PMID:25059482 PMID:25256166 PMID:25326637 PMID:25404506 PMID:25584008 PMID:25612911 PMID:25736369 PMID:25741868 PMID:25765855 PMID:25773284 PMID:25787918 PMID:25896519 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26452166 PMID:26467025 PMID:26572807 PMID:26580448 PMID:26585234 PMID:26681051 PMID:26681312 PMID:26681682 PMID:26718964 PMID:26786923 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27022024 PMID:27081505 PMID:27101110 PMID:27146902 PMID:27153395 PMID:27223487 PMID:27276561 PMID:27311873 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27516001 PMID:27601191 PMID:27621308 PMID:27622479 PMID:27663983 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28154273 PMID:28349240 PMID:28369373 PMID:28387921 PMID:28453743 PMID:28453760 PMID:28472496 PMID:28492532 PMID:28573494 PMID:28664506 PMID:28724667 PMID:28756477 PMID:28780976 PMID:28861920 PMID:28864397 PMID:28873162 PMID:28968711 PMID:28984303 PMID:29070607 PMID:29300620 PMID:29324801 PMID:29392648 PMID:29478780 PMID:29489754 PMID:29522266 PMID:29575851 PMID:29753700 PMID:29922827 PMID:29956451 PMID:29979965 PMID:30042151 PMID:30076369 PMID:30092803 PMID:30107858 PMID:30147334 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30352134 PMID:30588330 PMID:30596752 PMID:30630526 PMID:30709381 PMID:30720243 PMID:30816478 PMID:30840781 PMID:30851333 PMID:30982232 PMID:31081129 PMID:31089155 PMID:31105275 PMID:31321604 PMID:31472337 PMID:31494577 PMID:31567591 PMID:31742824 PMID:31744167 PMID:31748977 PMID:31775759 PMID:31845386 PMID:31882575 PMID:31978118 PMID:31983162 PMID:32000721 PMID:32039725 PMID:32156018 PMID:32292755 PMID:32322420 PMID:32427313 PMID:32592449 PMID:32658383 PMID:32671623 PMID:32817165 PMID:32832836 PMID:32888145 PMID:32906206 PMID:32980694 PMID:32986223 PMID:33163847 PMID:33245408 PMID:33257846 PMID:33258288 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33603772 PMID:33637564 PMID:33840814 PMID:34088725 PMID:34166060 PMID:34240179 PMID:34249098 PMID:34299313 PMID:34503094 PMID:34529667 PMID:34540492 PMID:34670578 PMID:34709361 PMID:34754157 PMID:34885220 PMID:35043155 PMID:35367578 PMID:35802772 PMID:35974385 PMID:36003761 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36988593 PMID:37179382 PMID:37653074 PMID:39060302 PMID:9929165 More...
RGD:8547825
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
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Vegfa
vascular endothelial growth factor A
disease_progression severity
ISO
protein:increased expression:mucosa of nasopharynx (human) protein:increased expression:nasopharynx (human)
RGD
PMID:16480593 PMID:30123088 PMID:23631129
RGD:126925191 , RGD:149735327 , RGD:153305949
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194
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Wrap53
WD repeat containing, antisense to TP53
ISO
associated with Epstein-Barr Virus Infections; protein:increased expression:nasopharynx epithelium
RGD
PMID:28607398
RGD:21081524
NCBI chr10:54,780,873...54,797,919
Ensembl chr10:54,773,282...54,797,651
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Xrcc1
X-ray repair cross complementing 1
treatment sexual_dimorphism susceptibility
ISO
DNA:SNP:3'utr: (rs25489) (human) DNA:missense mutation:cds: p.R194W (human) associated with Tobacco Use Disorder; DNA:missense mutation:cds: p.R399Q (human) DNA:missense mutation:exon 10: p.R399Q G>A, (rs25487) (human)
RGD
PMID:29108254 PMID:16796765 PMID:27356695 PMID:24175791 PMID:17630853
RGD:150530619 , RGD:150573694 , RGD:150573697 , RGD:150573698 , RGD:150573708
NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:89,268,644...89,296,613
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Ndrg1
N-myc downstream regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22972152
NCBI chr 7:100,573,526...100,614,902
Ensembl chr 7:100,573,523...100,614,913
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RT1-Ba
RT1 class II, locus Ba
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27749845
NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653
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RT1-Bb
RT1 class II, locus Bb
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27749845
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
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RT1-Db1
RT1 class II, locus Db1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27749845
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165
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Tp53
tumor protein p53
disease_progression
ISO
RGD
PMID:11072161
RGD:8547874
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
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Ern1
endoplasmic reticulum to nucleus signaling 1
disease_progression
ISO
RGD
PMID:31187548
RGD:32716423
NCBI chr10:91,826,663...91,920,976
Ensembl chr10:91,830,428...91,920,791
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Mir155
microRNA 155
treatment
ISO
RGD
PMID:28347920
RGD:24922223
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:37,261,114...37,261,178
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Adh7
alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18500343
NCBI chr 2:229,422,125...229,436,584
Ensembl chr 2:229,421,252...229,436,691
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Clptm1l
CLPTM1-like
sexual_dimorphism
ISO
in males;DNA:SNP: :rs401681(human)
RGD
PMID:31429604
RGD:150530637
NCBI chr 1:31,496,094...31,512,148
Ensembl chr 1:31,496,094...31,512,077
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Mir155
microRNA 155
disease_progression
ISO
RGD
PMID:28668836
RGD:24922215
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:37,261,114...37,261,178
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Mtus1
microtubule associated scaffold protein 1
disease_progression
ISO
RGD
PMID:25885343
RGD:25330345
NCBI chr16:57,905,991...58,051,466
Ensembl chr16:57,906,128...58,051,474
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Xrcc4
X-ray repair cross complementing 4
susceptibility
ISO
DNA:SNP:intron: (rs13180356) (human)
RGD
PMID:26035306
RGD:151361290
NCBI chr 2:22,686,506...22,932,929
Ensembl chr 2:22,686,508...22,933,160
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Fgfr3
fibroblast growth factor receptor 3
severity
ISO
associated with human papillomavirus;protein:decreased expression:tumor cells (human)
RGD
PMID:30061236
RGD:36947883
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209
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Igfbp3
insulin-like growth factor binding protein 3
treatment
ISO
RGD
PMID:27738609
RGD:12743605
NCBI chr14:86,270,208...86,277,944
Ensembl chr14:86,270,208...86,277,944
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Aaas
aladin WD repeat nucleoporin
ISO
ClinVar Annotator: match by term: AAAS-related condition | ClinVar Annotator: match by term: Achalasia-alacrima syndrome | ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11062474 PMID:11159947 PMID:11701718 PMID:11914417 PMID:12429595 PMID:12548737 PMID:12700313 PMID:12730363 PMID:12752575 PMID:14646395 PMID:15173230 PMID:15217518 PMID:15516781 PMID:15666842 PMID:15690314 PMID:16098009 PMID:16199547 PMID:16609705 PMID:16789645 PMID:16938764 PMID:17853339 PMID:17911039 PMID:18172684 PMID:18261130 PMID:18414213 PMID:18426811 PMID:18615337 PMID:18628786 PMID:18953174 PMID:20447142 PMID:20674935 PMID:21626165 PMID:21656342 PMID:22538409 PMID:22824007 PMID:23315990 PMID:24790383 PMID:25741868 PMID:26243364 PMID:26595337 PMID:26622478 PMID:27133709 PMID:27414811 PMID:27618595 PMID:28492532 PMID:28655339 PMID:29180348 PMID:29255950 PMID:29383495 PMID:29874194 PMID:30069287 PMID:30381913 PMID:30455725 PMID:30612286 PMID:31069529 PMID:31589614 PMID:31600784 PMID:31937715 PMID:31939195 PMID:32146693 PMID:32185032 PMID:32700293 PMID:32938577 PMID:33247909 PMID:34867779 PMID:35570467 More...
NCBI chr 7:133,464,315...133,483,961
Ensembl chr 7:135,342,901...135,362,545
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Myg1
MYG1 exonuclease
ISO
ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia
ClinVar
NCBI chr 7:133,456,778...133,463,985
Ensembl chr 7:135,335,334...135,346,740
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