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: DNA Virus Infections
Accession: DOID:9000251
browse the term
Definition: Diseases caused by DNA VIRUSES.
Synonyms: exact_synonym: DNA Virus Infection
primary_id: MESH:D004266 ; RDO:0004744
G
Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
susceptibility
ISO
DNA:polymorphism:cds:allele AB (human)
RGD
PMID:4375858
RGD:39938844
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
G
Btk
Bruton tyrosine kinase
susceptibility
ISO
RGD
PMID:15140955
RGD:124713567
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
G
Klrk1
killer cell lectin like receptor K1
ISO
RGD
PMID:21076062
RGD:39018557
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
G
Nfkbia
NFKB inhibitor alpha
ameliorates
ISO
human gene in a mouse model, associated with Animal Viral Hepatitis
RGD
PMID:10692445
RGD:126925948
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
G
Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10861090
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
G
Rag1
recombination activating 1
ISO
ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2682973 PMID:2808362 PMID:8810255 PMID:9630231 PMID:10606976 PMID:10635319 PMID:10701853 PMID:10891452 PMID:11121059 PMID:11133745 PMID:11213808 PMID:11313270 PMID:11520796 PMID:11908269 PMID:11971977 PMID:12200379 PMID:14670978 PMID:15696198 PMID:16211094 PMID:16276422 PMID:16960852 PMID:17075247 PMID:17176792 PMID:17476359 PMID:17572155 PMID:17890453 PMID:18056378 PMID:18223550 PMID:18442948 PMID:18463379 PMID:18592361 PMID:18701881 PMID:18768869 PMID:18822103 PMID:19011808 PMID:19064334 PMID:19178939 PMID:19246248 PMID:19458910 PMID:19830075 PMID:19912631 PMID:20109747 PMID:20489056 PMID:20956421 PMID:21131235 PMID:21184155 PMID:21502542 PMID:21664875 PMID:21771083 PMID:22424479 PMID:23085344 PMID:23122631 PMID:23891352 PMID:24122031 PMID:24144642 PMID:24290284 PMID:24406074 PMID:24418478 PMID:24472623 PMID:24985406 PMID:25516070 PMID:25707801 PMID:25741868 PMID:25849362 PMID:25869295 PMID:25976673 PMID:26457731 PMID:26476733 PMID:26596586 PMID:26689875 PMID:26829731 PMID:27095930 PMID:27301863 PMID:27484032 PMID:27609655 PMID:27713031 PMID:28083621 PMID:28109013 PMID:28216420 PMID:28492532 PMID:28623282 PMID:28747913 PMID:28769923 PMID:28783691 PMID:29107076 PMID:30046960 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30858051 PMID:30877075 PMID:31031743 PMID:31503426 PMID:31632441 PMID:32000930 PMID:32373116 PMID:32445296 PMID:32447396 PMID:32655540 PMID:32670274 PMID:32888943 PMID:33193364 PMID:33365035 PMID:33628209 PMID:34224223 PMID:34664192 PMID:35281013 PMID:35303369 PMID:35503492 PMID:35729272 PMID:37724703 More...
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
G
Ccl20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:17545018
RGD:7483603
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
G
Cd8a
CD8 subunit alpha
ISO
mRNA:decreased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
G
Foxp3
forkhead box P3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
G
Ifna1
interferon, alpha 1
treatment
ISO
RGD
PMID:25774455
RGD:36174028
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
G
Il10
interleukin 10
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il12b
interleukin 12B
treatment
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:7829774 , RGD:40400714
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
G
Il2
interleukin 2
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:31414711
RGD:127285371
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
G
Il4
interleukin 4
treatment
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:7829774 , RGD:40400714
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Il6
interleukin 6
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Klrk1
killer cell lectin like receptor K1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
G
Mapk8
mitogen-activated protein kinase 8
treatment
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
G
Myd88
MYD88, innate immune signal transduction adaptor
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
G
Ncr1
natural cytotoxicity triggering receptor 1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
G
Pdcd1
programmed cell death 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
G
Ptpn6
protein tyrosine phosphatase, non-receptor type 6
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
G
Serpinf1
serpin family F member 1
disease_progression
ISO
mRNA, protein:decreased expression:skin of body (human)
RGD
PMID:23569025
RGD:27226706
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
G
Tgfb1
transforming growth factor, beta 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Tlr2
toll-like receptor 2
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr3
toll-like receptor 3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
G
Tlr4
toll-like receptor 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tlr7
toll-like receptor 7
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754
G
Tlr8
toll-like receptor 8
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:27,091,780...27,116,092
Ensembl chr X:27,091,778...27,116,549
G
Tlr9
toll-like receptor 9
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tnfrsf18
TNF receptor superfamily member 18
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
G
Ppia
peptidylprolyl isomerase A
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:32149981
RGD:150429625
NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
G
Birc2
baculoviral IAP repeat-containing 2
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
G
Birc3
baculoviral IAP repeat-containing 3
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
G
A4galt
alpha 1,4-galactosyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11482875
NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071
G
Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
G
Bbc3
Bcl-2 binding component 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18573879
NCBI chr 1:77,013,281...77,022,509
Ensembl chr 1:77,014,543...77,022,509
G
Bcl2l2
Bcl2-like 2
ISO
mRNA:increased expression:lymph node
RGD
PMID:28094768
RGD:14394511
NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624
G
Brca1
BRCA1, DNA repair associated
ISO
ClinVar Annotator: match by term: Burkitt lymphoma
ClinVar
PMID:17262179 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31911673 PMID:33471991 PMID:36881271 More...
NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
G
Btk
Bruton tyrosine kinase
ameliorates treatment
ISO
Human cell line in a mouse model mRNA:increased expression:multiple (human)
RGD
PMID:28474336 PMID:30546948
RGD:124713565 , RGD:124715474
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
G
Calr
calreticulin
treatment
ISO
human cells and recombinant protein in a mouse model human cell line and recombinant protein in a mouse model
RGD
PMID:9858521 PMID:10961892
RGD:150521687 , RGD:150521702
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
G
Cct6b
chaperonin containing TCP1 subunit 6B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr10:67,652,461...67,701,385
Ensembl chr10:67,652,546...67,701,284
G
Cd40
CD40 molecule
treatment
ISO
human cell line in a mouse model
RGD
PMID:9192773
RGD:11520790
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
G
Cd79b
CD79b molecule
treatment
ISO
human cells in mouse model
RGD
PMID:17374736
RGD:151665154
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
G
Ftcd
formimidoyltransferase cyclodeaminase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
G
Gna13
G protein subunit alpha 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr10:94,337,939...94,370,774
Ensembl chr10:94,337,725...94,370,774
G
Id3
inhibitor of DNA binding 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143595 PMID:23143597
NCBI chr 5:148,372,784...148,374,353
Ensembl chr 5:148,372,762...148,374,349
G
Mir21
microRNA 21
treatment
ISO
RGD
PMID:27991481
RGD:41404643
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
G
Mir23b
microRNA 23b
treatment
ISO
RGD
PMID:27991481
RGD:41404643
NCBI chr17:1,813,667...1,813,763
Ensembl chr17:1,813,667...1,813,763
G
Mllt11
MLLT11, transcription factor 7 cofactor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31587870
NCBI chr 2:182,795,790...182,804,960
Ensembl chr 2:182,795,790...182,797,199
G
Myc
MYC proto-oncogene, bHLH transcription factor
ISO ISS
OMIM:113970 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Burkitt lymphoma DNA:mutations:exons:multiple (human)
MouseDO CTD ClinVar OMIM RGD
PMID:8220424 PMID:25157968 PMID:27993330 PMID:8220424 PMID:8397370
RGD:1601453 , RGD:10059619
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
G
Pbx1
PBX homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1967982 PMID:17244677
NCBI chr13:80,278,766...80,588,563
Ensembl chr13:80,278,770...80,588,594
G
Pc
pyruvate carboxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380
G
Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
G
Ret
ret proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
G
Sall3
spalt-like transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789
G
Smarca4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
G
Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1967982 PMID:17244677
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
G
Adar
adenosine deaminase, RNA-specific
treatment
ISO
DNA:SNP:enhancer: (rs4845384) (human)
RGD
PMID:24351124
RGD:125097515
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
G
Apoa1
apolipoprotein A1
ISO
protein:decreased expression mRNA, protein:decreased expression:liver, serum (human) protein:decreased expression:plasma (human)
RGD
PMID:21726101 PMID:27015844 PMID:25115832
RGD:5508214 , RGD:25671432 , RGD:25671433
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
G
Apoe
apolipoprotein E
susceptibility
ISO
DNA:missense mutations:cds:p.C112R, p.R158C (human)
RGD
PMID:20961200
RGD:14401585
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Birc3
baculoviral IAP repeat-containing 3
ameliorates
ISO
RGD
PMID:25902529
RGD:152998939
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
G
C2
complement C2
susceptibility
IAGP
DNA:SNP:exon: p.Glu318Asp (human)
RGD
PMID:22610944
RGD:40886317
NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505
G
Ccl2
C-C motif chemokine ligand 2
ISO
protein:decreased expression:serum:
RGD
PMID:26281331
RGD:14995947
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccl5
C-C motif chemokine ligand 5
severity
ISO
RGD
PMID:17711627
RGD:14995339
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17657819
NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
G
Cd163
CD163 molecule
ISO
protein:increased expression:blood serum (human)
RGD
PMID:26339412
RGD:11251207
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
G
Cd1d1
CD1d1 molecule
ISO
associated with hepatocellular carcinoma;mRNA:increased expression:liver (human)
RGD
PMID:29643189
RGD:127345114
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
G
Cd274
CD274 molecule
treatment
ISO
protein:increased expression:regulatory T cell
RGD
PMID:26266813 PMID:20460044
RGD:11344683 , RGD:41412166
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
G
Cemip2
cell migration inducing hyaluronidase 2
susceptibility
ISO
DNA:SNP:exon: p.Ser1254Asn (human)
RGD
PMID:22610944
RGD:40886317
NCBI chr 1:219,330,295...219,407,760
Ensembl chr 1:219,337,985...219,407,760
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNP: :-318C>T(human)
RGD
PMID:16489681
RGD:14398727
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
G
Cxcl10
C-X-C motif chemokine ligand 10
treatment
ISO
mRNA,protein:increased expression: peripheral blood mononuclear cell,serum, sinusoidal endothelium
RGD
PMID:30660173 PMID:18234638
RGD:27095888 , RGD:27095951
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
G
Eif2ak3
eukaryotic translation initiation factor 2 alpha kinase 3
ISO
RGD
PMID:26234401
RGD:32716425
NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911
G
Foxp3
forkhead box P3
ISO
mRNA,protein:increased expression:peripheral blood mononuclear cell, liver:
RGD
PMID:18673437 PMID:21489307
RGD:38548921 , RGD:38549358
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
G
Gpt
glutamic--pyruvic transaminase
treatment disease_progression
ISO
RGD
PMID:29279233 PMID:28007350
RGD:14975159 , RGD:14975240
NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
G
Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
protein:increased expression:serum (human)
RGD
PMID:28465467
RGD:39939037
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
G
Ifna2
interferon alpha 2
susceptibility
ISO
DNA:SNP:exon: p.Ala120Thr (human)
RGD
PMID:22610944
RGD:40886317
NCBI chr 5:103,258,617...103,259,195
G
Ifng
interferon gamma
ISO
protein:decreased expression:serum (human)
RGD
PMID:26684441 PMID:28465467
RGD:14974255 , RGD:39939037
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Ifnl1
interferon, lambda 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:21957142
RGD:126848748
NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235
G
Il12a
interleukin 12A
ISO
mRNA:increased expression:liver
RGD
PMID:26062743
RGD:11097839
NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
G
Il12b
interleukin 12B
susceptibility
ISO
DNA:SNP:3'utr: (rs3212227)
RGD
PMID:25469587
RGD:11074616
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
G
Il18
interleukin 18
disease_progression
ISO
DNA:SNP:promoter:-607C>A(human)
RGD
PMID:27470888
RGD:14696663
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il1rl1
interleukin 1 receptor-like 1
severity
ISO
protein:increased expression:serum:
RGD
PMID:27180842 PMID:28381383
RGD:39457933 , RGD:39938857
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
G
Il2
interleukin 2
susceptibility
ISO
DNA:polymorphism:promoter:-385T>G(human)
RGD
PMID:19105930
RGD:14747034
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Il21
interleukin 21
susceptibility treatment exacerbates
ISO
DNA:SNP:intron: (rs2221903) (human) associated with non-alcoholic fatty liver disease DNA:SNPs:introns: (rs2221903, rs907715) (human) protein:increased expression:blood serum (human) protein:decreased expression:blood serum (human)
RGD
PMID:23354321 PMID:31281514 PMID:26840345 PMID:29879024 PMID:25243706 PMID:32373234 PMID:30260401 PMID:28500636 More...
RGD:127285353 , RGD:127285551 , RGD:127285549 , RGD:127285539 , RGD:127285378 , RGD:127285369 , RGD:127285364 , RGD:127285361
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
G
Il33
interleukin 33
severity treatment
ISO
RGD
PMID:27180842 PMID:25714983
RGD:39457933 , RGD:39938954
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
G
Il4
interleukin 4
disease_progression treatment
ISO
DNA:SNP:promoter:-590C>T (human)
RGD
PMID:26281177 PMID:21331994
RGD:14696675 , RGD:14696697
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Itih4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
protein:increased expression:serum
RGD
PMID:24836184
RGD:40903002
NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708
G
Jak1
Janus kinase 1
disease_progression
ISO
DNA:SNPs: :rs4244165, rs17127024 (human)
RGD
PMID:22901011
RGD:19165132
NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
G
Keap1
Kelch-like ECH-associated protein 1
ISO
mRNA:decreased expression:liver (human)
RGD
PMID:22459801
RGD:6892954
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
G
Klrc1
killer cell lectin like receptor C1
severity
ISO
protein:increased expression:Peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:28328926
RGD:40400737
NCBI chr 4:163,142,142...163,152,425
Ensembl chr 4:163,147,189...163,152,425
G
Klrk1
killer cell lectin like receptor K1
susceptibility
ISO
DNA:SNP:intron 1:(rs2617160) (human)
RGD
PMID:20648603
RGD:39018553
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
G
Krt18
keratin 18
disease_progression severity
ISO
protein:increased phosphorylation:liver (human) protein:increased degradation:serum (human)
RGD
PMID:20334631 PMID:28579343
RGD:18337487 , RGD:18337494
NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166 Ensembl chr10:133,157,475...133,161,166
G
Lepr
leptin receptor
ISO
mRNA:altered exression:PBMC,liver
RGD
PMID:17060687
RGD:21079470
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Mbl2
mannose binding lectin 2
severity
ISO
DNA:haplotype: :
RGD
PMID:27824315
RGD:14696831
NCBI chr 1:228,016,439...228,024,736
G
Mir106b
microRNA 106b
severity
IEP
associated with hepatocellular carcinoma;miRNA:increased expression:liver (human)
RGD
PMID:27298561
RGD:15042853
NCBI chr12:17,043,344...17,043,425
Ensembl chr12:17,043,344...17,043,425
G
Mir146a
microRNA 146a
ISO
mRNA:increased expression:T cell (human)
RGD
PMID:23698745
RGD:126925146
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
G
Mir155
microRNA 155
ISO
RGD
PMID:30735455
RGD:21081537
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
G
Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:28871230
RGD:150340590
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
G
Ncr1
natural cytotoxicity triggering receptor 1
severity disease_progression
ISO
protein:increased expression:Peripheral blood mononuclear cell, natural killer cell (human) protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) protein:decreased expression:Peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:28328926 PMID:26291078 PMID:29625837
RGD:40400737 , RGD:40818237 , RGD:39128177
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
G
Nfkbia
NFKB inhibitor alpha
disease_progression
ISO
DNA:enhancers: :(rs2233406, rs2233409) (human)
RGD
PMID:29093318
RGD:127285389
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
G
Pdcd1
programmed cell death 1
disease_progression no_association
ISO
DNA:SNP:3' UTR:rs10204525(human) protein:altered expression:serum: DNA:SNP:exon: DNA:SNPs::+7146 G>A,+7209 C>T(human)
RGD
PMID:30016557 PMID:28983583 PMID:20700634 PMID:25736598
RGD:40818231 , RGD:40818415 , RGD:40818262 , RGD:40818233
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
G
Ppp1r15a
protein phosphatase 1, regulatory subunit 15A
ISO
mRNA,protein:increased expression:liver
RGD
PMID:26234401
RGD:32716425
NCBI chr 1:96,000,053...96,003,128
Ensembl chr 1:96,000,058...96,003,171
G
Prdm1
PR/SET domain 1
disease_progression
ISO
RGD
PMID:31100710
RGD:150530465
NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488
G
RT1-Ba
RT1 class II, locus Ba
treatment susceptibility disease_progression
ISO
DNA:polymorphisms: : DNA:polymorphisms: :HLA-DQA1*0101/2/4, HLA-DQA1*0103 (human) DNA:haplotype:: DNA:polymorphisms: :HLA-DQA1*0303, HLA-DQA1*0505(human) DNA:polymorphism: :
RGD
PMID:27386643 PMID:30168489 PMID:22807686 PMID:16883532 PMID:15237447 PMID:14562382 More...
RGD:14398752 , RGD:14398755 , RGD:14398843 , RGD:14398840 , RGD:14398838 , RGD:14398759
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
RT1-Bb
RT1 class II, locus Bb
treatment no_association
ISO
DNA:polymorphisms (human) DNA:polymorphism: :HLA-DQB1*07(human) DNA:SNP: :rs2856718 (human) DNA:polymorphisms: :multiple
RGD
PMID:16893387 PMID:16237774 PMID:28267888 PMID:29287219
RGD:5147637 , RGD:36049762 , RGD:14974232 , RGD:14865012
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
RT1-Db1
RT1 class II, locus Db1
disease_progression susceptibility
ISO
DNA:haplotype:: DNA:polymorphisms: :
RGD
PMID:16883532 PMID:16237774
RGD:14398840 , RGD:36049762
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
RT1-Ha
RT1 class II, locus Ha
treatment disease_progression susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: :rs3077(human) DNA:polymorphism::HLA-DPA1*04:01(human) mRNA:decreased expression:peripheral blood mononuclear cell:
CTD RGD
PMID:19349983 PMID:29300980 PMID:28275747 PMID:30267609 PMID:30267609
RGD:14694973 , RGD:14694818 , RGD:14694817 , RGD:14694817
NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
G
RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
susceptibility severity treatment
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:exon 6: (rs9277542) (human) DNA:SNPs:multiple (human) DNA:SNP:exon, 3' utr: (rs9277542) (human) DNA:polymorphisms, haplotypes:multiple (human) DNA:polymorphisms:multiple (human) DNA:polymorphism:exon, 3' utr: (rs9277535) (human) DNA:SNP: :rs33054861(human) DNA:polymorphism: :(human)
CTD RGD
PMID:19349983 PMID:21274863 PMID:21310144 PMID:22737229 PMID:24520320 PMID:25109699 PMID:26449183 PMID:27051043 PMID:28267888 More...
RGD:11536957 RGD:14694816 RGD:14974232 RGD:150429660 RGD:150429794 RGD:150429799 RGD:150429802 RGD:150429807 RGD:150429808
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
G
Stat2
signal transducer and activator of transcription 2
ISO
mRNA:decreased expression:monocyte (human)
RGD
PMID:30842274
RGD:41789632
NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
G
Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
DNA:SNPs, haplotypes:multiple
RGD
PMID:25829184
RGD:25671420
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
G
Sting1
stimulator of interferon response cGAMP interactor 1
susceptibility
ISO
DNA:hypermethylation:promoter
RGD
PMID:30593207
RGD:39128221
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
G
Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
mRNA:decreased expression:blood
RGD
PMID:21843574
RGD:6482248
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
G
Tert
telomerase reverse transcriptase
susceptibility
ISO
DNA:SNP, haplotype: :rs10069690,rs2242652(human)
RGD
PMID:29507683
RGD:14696786
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
G
Tgfb1
transforming growth factor, beta 1
no_association
ISO
DNA:SNPs, haplotypes: :869C>T (rs1800470), 11929C>T (rs1800472) (human) DNA:SNPs:promoter:-509C>T (rs1800469) (human)
RGD
PMID:28700046 PMID:28700046
RGD:14995436 , RGD:14995436
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Tlr2
toll-like receptor 2
treatment disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:28414577 PMID:25771704 PMID:25337250
RGD:15090812 , RGD:15090828 , RGD:15090826
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr3
toll-like receptor 3
susceptibility
ISO
DNA:snp: :rs3775290(human) DNA:SNP, haplotype: :1234C>T (human)
RGD
PMID:26024592 PMID:23076446
RGD:21079416 , RGD:21079425
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
G
Tlr4
toll-like receptor 4
ISO
protein:increased expression:serum:
RGD
PMID:28414577
RGD:15090812
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tlr9
toll-like receptor 9
severity
ISO
mRNA, protein: decreased expression:liver, CD14-positive monocyte (human) protein:increased expression:peripheral blood mononuclear cell (human) protein: increased expression:peripheral blood mononuclear cell (human) mRNA, protein:decreased expression:peripheral blood mononuclear cell (human) DNA:SNPs: 5'UTR: (rs5743836, rs187084) (human)
RGD
PMID:24622882 PMID:27126946 PMID:18215354 PMID:19513613 PMID:30453064
RGD:18337464 , RGD:18337474 , RGD:18337472 , RGD:18337470 , RGD:18337467
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
G
Tnfaip3
TNF alpha induced protein 3
susceptibility
ISO
DNA:SNP,haplotypes: (rs148314165, rs200820567) (human)
RGD
PMID:28784141
RGD:151347613
NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
G
Tnfsf13b
TNF superfamily member 13b
treatment
ISO
RGD
PMID:30660173
RGD:27095888
NCBI chr16:79,462,406...79,492,888
Ensembl chr16:79,462,402...79,492,693
G
Ube2l3
ubiquitin-conjugating enzyme E2L 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24162738
NCBI chr11:83,797,722...83,838,862
Ensembl chr11:83,797,722...83,838,862
G
Zfhx3
zinc finger homeobox 3
ISO
protein:increased expression:blood serum (human)
RGD
PMID:20534899
RGD:151361169
NCBI chr19:36,257,196...36,886,104
Ensembl chr19:36,630,254...36,881,771
G
Ace
angiotensin I converting enzyme
ISO
associated with essential hypertension:DNA:hypomethylation
RGD
PMID:29752343
RGD:40400905
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Ccl21
C-C motif chemokine ligand 21
ISO
protein:increased expression:plasma (human)
RGD
PMID:23593305
RGD:38508895
NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
G
Ccl3
C-C motif chemokine ligand 3
ISO
associated with renal allograft recipients
RGD
PMID:10353879
RGD:7241836
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
G
Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:lung, secretion (human)
RGD
PMID:18513272
RGD:4891916
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Cd1d1
CD1d1 molecule
exacerbates
ISO
RGD
PMID:17379092
RGD:127345104
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:plasma (human)
RGD
PMID:23593305
RGD:38508895
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
G
Il17d
interleukin 17D
severity
ISO
RGD
PMID:30209334
RGD:40903063
NCBI chr15:31,671,337...31,688,833
G
Il1rl1
interleukin 1 receptor-like 1
ISO
RGD
PMID:25926677
RGD:40400705
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
G
Il27
interleukin 27
ISO
protein:increased expression:spleen, saliva-secreting gland (mouse)
RGD
PMID:27926930
RGD:126790498
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
G
Il5
interleukin 5
ISO
RGD
PMID:22293286
RGD:5687156
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
G
Klrk1
killer cell lectin like receptor K1
severity
ISO
DNA:SNP:cds: c.214A>G (rs2255336) (human)
RGD
PMID:28760883 PMID:25861030
RGD:39018560 , RGD:39018561
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
G
Mbl2
mannose binding lectin 2
severity
ISO
DNA:SNP:exon DNA:polymorphism: :
RGD
PMID:19715891 PMID:20712489
RGD:6903267 , RGD:4889482
NCBI chr 1:228,016,439...228,024,736
G
Mthfr
methylenetetrahydrofolate reductase
ameliorates
ISO
RGD
PMID:19609317 PMID:19609317
RGD:42722609 , RGD:42722609
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Ncr1
natural cytotoxicity triggering receptor 1
disease_progression susceptibility
ISO
DNA:SNP:cds: p.C14R (mouse)
RGD
PMID:28643847 PMID:22267813 PMID:29440507 PMID:26371250
RGD:40818245 , RGD:40818251 , RGD:40818249 , RGD:40818246
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
G
Nfkbia
NFKB inhibitor alpha
susceptibility
ISO
associated with end stage renal disease;DNA:SNP:promoter: -94ins/delATTG (human)
RGD
PMID:30431214
RGD:40902821
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
G
Pdcd1
programmed cell death 1
susceptibility
ISO
associated with kidney transplantation; DNA:SNP: :rs11568821(human)
RGD
PMID:19581275
RGD:40818426
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
G
Ripk3
receptor-interacting serine-threonine kinase 3
severity
ISO
RGD
PMID:29847649
RGD:127229927
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
G
RT1-M3-1
RT1 class Ib, locus M3, gene 1
susceptibility
ISO
RGD
PMID:19624485
RGD:5144145
NCBI chr20:1,323,976...1,328,126
Ensembl chr20:1,287,521...1,328,117
G
Samhd1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
exacerbates
ISO
RGD
PMID:31548683
RGD:149735526
NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
G
Selp
selectin P
ISO
RGD
PMID:21457388
RGD:6219000
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
G
Stat1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16688530
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
G
Stat2
signal transducer and activator of transcription 2
exacerbates
ISO
RGD
PMID:29743368
RGD:41789628
NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
G
Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:31249303
RGD:39128225
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
G
Tnf
tumor necrosis factor
ISO
RGD
PMID:7815559
RGD:12904072
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Vcp
valosin-containing protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28494016
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
G
Vwf
von Willebrand factor
ISO
protein:increased expression:plasma (human)
RGD
PMID:23593305
RGD:38508895
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
G
Was
WASP actin nucleation promoting factor
severity
ISO
RGD
PMID:30981413
RGD:38676256
NCBI chr X:14,405,105...14,413,850
Ensembl chr X:14,405,124...14,413,849
G
Il10
interleukin 10
ISO
associated with Murine Acquired Immunodeficiency Syndrome
RGD
PMID:23415673
RGD:7364815
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Ripk3
receptor-interacting serine-threonine kinase 3
ISO
protein:increased expression:optic cup, retina (mouse)
RGD
PMID:29853772
RGD:127229940
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
G
RT1-CE13
RT1 class I, locus CE13
ISO
associated with HIV Infections; DNA:polymorphisms, haplotype:cds:HLA-B44 (human)
RGD
PMID:11564593
RGD:7365106
NCBI chr20:3,314,830...3,318,106
G
Tnf
tumor necrosis factor
ISO
mRNA,protein:increased expression:eye:
RGD
PMID:22072377 PMID:17389501
RGD:7394768 , RGD:7394808
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:17389501
RGD:7394808
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
G
Ido1
indoleamine 2,3-dioxygenase 1
severity
ISO
associated with atopic dermatitis; protein:increased activity:serum (human)
RGD
PMID:26198597
RGD:11528429
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
G
Ifng
interferon gamma
susceptibility
ISO
mRNA,protein:decreased expression:peripheral mononuclear cell: DNA:haplotype::
RGD
PMID:21458658 PMID:21458658
RGD:6480259 , RGD:6480259
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Tmc6
transmembrane channel like 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD ClinVar
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36268689 More...
NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960
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 chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
G
Tnrc6c
trinucleotide repeat containing adaptor 6C
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:28492532
NCBI chr10:102,908,958...102,979,543
Ensembl chr10:102,868,828...102,978,194
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 chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960
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 chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
G
Tmc6
transmembrane channel like 6
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar
PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960
G
Tmc8
transmembrane channel-like 8
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis 2 | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
OMIM ClinVar
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16199547 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28646613 More...
NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
G
Cib1
calcium and integrin binding 1
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3
OMIM ClinVar
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:25741868 PMID:28492532 PMID:28646613 PMID:30068544 More...
NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423
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 chr14:42,341,135...42,371,971
Ensembl chr14:42,337,751...42,386,369
G
Il7
interleukin 7
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5
OMIM ClinVar
PMID:25981006
NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075
G
Aicda
activation-induced cytidine deaminase
ISO
associated with malaria;mRNA:increased expression:B cell mRNA:increased expression:T cell, natural killer cell
RGD
PMID:25099163 PMID:21697063
RGD:32716377 , RGD:32716387
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
G
Cd163
CD163 molecule
ISO
associated with Hodgkin's lymphoma;protein:increased expression:macrophage (human)
RGD
PMID:21602260
RGD:40925915
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
G
Cd68
Cd68 molecule
severity
ISO
associated with Hodgkin's Lymphoma;protein:increased expression:tumor (human) associated with Hodgkin's Lymphoma;protein:increased expression:tumor(human)
RGD
PMID:21602260 PMID:21071500
RGD:40925915 , RGD:40925944
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
G
Cd8a
CD8 subunit alpha
ISO
associated with stomach cancer;mRNA:increased expression:stomach (human)
RGD
PMID:29155997
RGD:124715448
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
G
Fgfr2
fibroblast growth factor receptor 2
no_association
ISO
DNA:missense mutation:cds:(rs755793) (human)
RGD
PMID:29446487
RGD:38500242
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
G
Foxp3
forkhead box P3
susceptibility
ISO
associated with adult T-cell leukemia;
RGD
PMID:18246047
RGD:38548918
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
G
Itgb2
integrin subunit beta 2
ISO
associated with Hodgkin's lymphoma;mRNA, protein:increased expression:lymph node (human)
RGD
PMID:25041527
RGD:127285814
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
G
Mir146a
microRNA 146a
exacerbates
ISO
associated with respiratory allergy;miRNA:increased expression:blood serum (human)
RGD
PMID:31322518
RGD:126925156
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
G
Pten
phosphatase and tensin homolog
ISO
associated with stomach carcinoma;DNA:hypermethylation:promoter (human)
RGD
PMID:19339266
RGD:127285616
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
G
RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
susceptibility
ISO
associated with infectious mononucleosis, Hodgkin's lymphoma;DNA:polymorphism: :HLA-DPB1*0301 (human)
RGD
PMID:11401923
RGD:150429800
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
G
Tp73
tumor protein p73
ISO
associated with stomach carcinoma;DNA:hypermethylation:promoter (human)
RGD
PMID:23829175
RGD:151347586
NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
G
Cdkn2b
cyclin-dependent kinase inhibitor 2B
ISO
associated with Leukemia, Myeloid, Acute;DNA:hypermethylation:promoter:
RGD
PMID:18384396
RGD:11252189
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
G
Ccl5
C-C motif chemokine ligand 5
ISO
RGD
PMID:12502811
RGD:4890015
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Ifnar1
interferon alpha and beta receptor subunit 1
exacerbates
ISO
RGD
PMID:28264883
RGD:125093738
NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
G
Ifng
interferon gamma
ISO
protein:increased expression:vaginal secretion:
RGD
PMID:10366565
RGD:8158034
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Il21
interleukin 21
treatment
ISO
RGD
PMID:24358128
RGD:127285365
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
G
Il3
interleukin 3
ISO
RNA: increased expression
RGD
PMID:21175248
RGD:5686876
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
G
Irf9
interferon regulatory factor 9
exacerbates
ISO
RGD
PMID:28264883
RGD:125093738
NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236
G
Nfe2l2
NFE2 like bZIP transcription factor 2
ameliorates
ISO
RGD
PMID:31555293
RGD:42722615
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
G
Rnasel
ribonuclease L
severity
ISO
RGD
PMID:17157346
RGD:40902623
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
G
Stat4
signal transducer and activator of transcription 4
treatment severity
ISO
DNA:SNP:intron:rs7572482 (human) DNA:SNPs, haplotype: :multiple
RGD
PMID:22718836 PMID:22718836
RGD:8661697 , RGD:8661697
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
G
Aicda
activation-induced cytidine deaminase
treatment
ISO
RGD
PMID:28063995
RGD:30310232
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
G
Car9
carbonic anhydrase 9
disease_progression
ISO
DNA:SNP::rs2071676(human)
RGD
PMID:32297155
RGD:40903057
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
G
Ccl4
C-C motif chemokine ligand 4
ISO
RGD
PMID:21914058
RGD:5683873
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
G
Ccl5
C-C motif chemokine ligand 5
disease_progression susceptibility
ISO
DNA:polymorphisms:promoter:-403G>A,-28C>G (human) DNA:polymorphisms: :
RGD
PMID:30536991 PMID:23336202 PMID:22576913 PMID:19017985
RGD:14401739 , RGD:14995331 , RGD:14995330 , RGD:14995327
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Ccnd2
cyclin D2
disease_progression
ISO
mRNA:decreased expression:Peripheral Blood Mononuclear Cell DNA:SNP, haplotype:exon :rs1049606(human)
RGD
PMID:33320844 PMID:20414251
RGD:151664743 , RGD:151664744
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
G
Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:19185001
RGD:6893388
NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
G
Ccr5
C-C motif chemokine receptor 5
susceptibility disease_progression
ISO
DNA:SNP: : rs1799987(human) DNA:polymorphism:promoter:59029A>G,59353C>T DNA:polymorphism: :DNA:deletion:Cds:
RGD
PMID:29239247 PMID:17063508 PMID:27892677
RGD:14401574 , RGD:14401727 , RGD:14401575
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Cd68
Cd68 molecule
ISO
associated with inflammation;protein:increased expression:liver (human)
RGD
PMID:9699943
RGD:40925917
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
disease_progression
ISO
DNA:SNPs: :-1722T>C(rs733618), 49A>G(rs231775)6230G>A(rs3087243)(human)
RGD
PMID:15452244
RGD:14398731
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
G
Ctnnb1
catenin beta 1
ISO
associated with hepatocellular carcinoma;protein:increased expression:liver (human)
RGD
PMID:25536643
RGD:150429591
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
G
Cxcl10
C-X-C motif chemokine ligand 10
disease_progression
ISO
DNA:SNP:promoter:-201G>A(human)
RGD
PMID:18325387
RGD:27095959
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
G
Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
severity
ISO
DNA:SNP:promoter: -1260C>A (rs10877012) (human)
RGD
PMID:22963605
RGD:25671410
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
G
Dock8
dedicator of cytokinesis 8
disease_progression
ISO
DNA:SNP::rs506121(human)
RGD
PMID:32297155
RGD:40903057
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
G
Eftud2
elongation factor Tu GTP binding domain containing 2
susceptibility
ISO
RGD
PMID:34436958
RGD:155791665
NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079
G
Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
disease_progression
ISO
RGD
PMID:11861827
RGD:40902828
NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
G
Fas
Fas cell surface death receptor
ISO
protein:increased expression:liver:
RGD
PMID:12526294
RGD:14700675
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Faslg
Fas ligand
ISO
protein:increased expression:liver:
RGD
PMID:12526294
RGD:14700675
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
G
Fbxo11
F-box protein 11
ISO
associated with hepatocellular carcinoma;protein:increased expression:liver (human)
RGD
PMID:29603830
RGD:152025266
NCBI chr 6:6,486,761...6,562,664
Ensembl chr 6:6,486,015...6,562,662
G
Foxp3
forkhead box P3
ISO
associated with hepatocellular carcinoma; protein:increased expression:liver
RGD
PMID:21086571
RGD:38548919
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
G
Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Ifna1
interferon, alpha 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15504288
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
G
Ifna2
interferon alpha 2
treatment
ISO
RGD
PMID:8509638
RGD:21406432
NCBI chr 5:103,258,617...103,259,195
G
Ifnar2
interferon alpha and beta receptor subunit 2
susceptibility
ISO
ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:16757563 PMID:25741868 PMID:28492532
NCBI chr11:30,613,576...30,645,958
Ensembl chr11:30,613,767...30,668,124
G
Ifnb1
interferon beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15994231
NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15994231 PMID:20610715
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Ifngr1
interferon gamma receptor 1
susceptibility
ISO
ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:10192386 PMID:11583830 PMID:12516030 PMID:16690980 PMID:18171304 PMID:19488747 PMID:20015550 PMID:25741868 PMID:28492532 PMID:28902581 More...
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
G
Il10
interleukin 10
treatment no_association
ISO
DNA:SNP, haplotypes:promoter:-1082G>A (rs1800896) (human) DNA:SNPs:promoter:-592C>A (rs1800872), -819C>A (rs1800871) (human)
RGD
PMID:27644568 PMID:27644568
RGD:14975150 , RGD:14975150
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il10rb
interleukin 10 receptor subunit beta
ISO
ClinVar Annotator: match by term: HBV, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hepatitis B virus, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:16757563 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29248579
NCBI chr11:30,646,494...30,668,081
Ensembl chr11:30,652,096...30,668,074
G
Il18
interleukin 18
susceptibility disease_progression
ISO
associated with hepatocellular carcinoma; DNA:SNP:promoter:-137G>C(rs187238)(human) DNA:SNPs:promoter,intron,exon:���148G>C, +8925C>G,+13925A>C(human)
RGD
PMID:27429592 PMID:19466545
RGD:14695540 , RGD:14696658
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il2
interleukin 2
ISO
RGD
PMID:25968473
RGD:14747044
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Il21
interleukin 21
ISO
mRNA:increased expression:spleen (C57BL/6N mouse)
RGD
PMID:29544722
RGD:127285375
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
G
Il27
interleukin 27
exacerbates
ISO
mRNA:increased expression:blood plasma (human) protein:increased expression:blood serum (human)
RGD
PMID:26925776 PMID:22766719 PMID:19081304
RGD:126790497 , RGD:126790543 , RGD:39128258
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
G
Il2rb
interleukin 2 receptor subunit beta
disease_progression
ISO
RGD
PMID:29307521
RGD:42724467
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
G
Il4
interleukin 4
treatment
ISO
DNA:SNPs: :rs2243250,rs2227284(human)
RGD
PMID:28051794
RGD:14696676
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Il6
interleukin 6
ISO
DNA:SNP:promoter:-174C>G (human)
RGD
PMID:27268603
RGD:14975295
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Irf1
interferon regulatory factor 1
disease_progression
ISO
RGD
PMID:11861827
RGD:40902828
NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166
G
Kat2a
lysine acetyltransferase 2A
treatment
ISO
RGD
PMID:23913178
RGD:9590262
NCBI chr10:85,632,216...85,640,561
Ensembl chr10:85,632,216...85,640,166
G
Klrk1
killer cell lectin like receptor K1
treatment
ISO
RGD
PMID:17991774 PMID:28318408
RGD:38676490 , RGD:39128174
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
G
Lox
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr18:45,964,544...45,977,431
Ensembl chr18:45,967,343...46,041,477
G
Loxl2
lysyl oxidase-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr15:44,683,449...44,773,067
Ensembl chr15:44,683,880...44,773,067
G
Map4k4
mitogen-activated protein kinase kinase kinase kinase 4
ISO
associated with hepatocellular carcinoma;mRNA:increased expression:liver, blood serum (human)
RGD
PMID:21196414
RGD:151347673
NCBI chr 9:42,200,708...42,326,708
Ensembl chr 9:42,200,278...42,326,698
G
Mbl2
mannose binding lectin 2
disease_progression
ISO
DNA:haplotype:promoter,exon:
RGD
PMID:16231358
RGD:14696834
NCBI chr 1:228,016,439...228,024,736
G
Mir100
microRNA 100
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 8:41,901,225...41,901,304
Ensembl chr 8:41,901,225...41,901,304
G
Mir122
microRNA 122
severity
ISO
CTD Direct Evidence: marker/mechanism miRNA:decreased expression:liver
CTD RGD
PMID:28545106 PMID:22105316
RGD:14401605
NCBI chr18:58,758,703...58,758,787
G
Mir125b2
microRNA 125b-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr11:16,245,620...16,245,707
G
Mir146a
microRNA 146a
ameliorates
ISO
RGD
PMID:27210312
RGD:126925163
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
G
Mir148a
microRNA 148a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 4:80,333,762...80,333,858
Ensembl chr 4:80,333,762...80,333,858
G
Mir155
microRNA 155
ISO
RGD
PMID:29349567
RGD:21408592
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
G
Mir190
microRNA 190
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 8:67,850,987...67,851,071
Ensembl chr 8:67,850,987...67,851,071
G
Mir192
microRNA 192
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
G
Mir193b
microRNA 193b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr10:1,317,742...1,317,824
Ensembl chr10:1,317,742...1,317,824
G
Mir194-2
microRNA 194-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 1:203,564,761...203,564,845
Ensembl chr 1:203,564,761...203,564,845
G
Mir204
microRNA 204
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 1:220,316,931...220,317,040
Ensembl chr 1:220,316,931...220,317,040
G
Mir28
microRNA 28
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr11:75,975,523...75,975,608
Ensembl chr11:75,975,523...75,975,608
G
Mir365b
microRNA 365b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr10:64,686,255...64,686,340
Ensembl chr10:64,686,252...64,686,351
G
Mir455
microRNA 455
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 5:76,689,313...76,689,390
Ensembl chr 5:76,689,313...76,689,390
G
Mir99a
microRNA 99a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr11:16,200,443...16,200,523
Ensembl chr11:16,200,443...16,200,523
G
Mirlet7c1
microRNA let-7c-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr11:16,201,163...16,201,256
Ensembl chr11:16,201,158...16,201,265
G
Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
mRNA:decreased expression:liver (human)
RGD
PMID:23157389
RGD:126925755
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility no_association
ISO
DNA:transition:cds:g.677C>T (human) DNA:missense mutations:cds:g.1298A>C, g.2756A>G
RGD
PMID:18222012 PMID:18222012
RGD:38508898 , RGD:38508898
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Myd88
MYD88, innate immune signal transduction adaptor
ISO
associated with hepatocellular carcinoma;protein:decreased expression:liver (human)
RGD
PMID:28370778
RGD:150520169
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
G
Nfkbia
NFKB inhibitor alpha
susceptibility
ISO
DNA:SNPs:promoter:-826C>T, -881A>G (rs2233406, rs3138053) (human)
RGD
PMID:25223483
RGD:40902986
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
G
Pdcd1
programmed cell death 1
disease_progression susceptibility
ISO
DNA:SNP: :rs2227981(human) DNA:SNPs,halptype: :rs36084323, rs2227981,rs2227982(human)
RGD
PMID:31770816 PMID:29786123 PMID:28667037
RGD:40818272 , RGD:40818423 , RGD:40818414
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
G
Plau
plasminogen activator, urokinase
severity
ISO
protein:increased expression:plasma
RGD
PMID:18691743
RGD:6483828
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
G
Plaur
plasminogen activator, urokinase receptor
severity
ISO
protein:increased expression:plasma
RGD
PMID:18691743
RGD:6483828
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
G
Prex2
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
ISO
associated with hepatocellular carcinoma;mRNA:increased expression:liver (human)
RGD
PMID:25151370
RGD:151665185
NCBI chr 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068
G
Prkcsh
PRKCSH beta subunit of glucosidase II
treatment
ISO
RGD
PMID:24769044
RGD:14402034
NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492
G
Pten
phosphatase and tensin homolog
exacerbates
ISO
mRNA:decreased expression:liver (mouse)
RGD
PMID:31604033
RGD:127285593
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
G
Rnasel
ribonuclease L
ISO
RGD
PMID:11861827
RGD:40902828
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
G
RT1-Ba
RT1 class II, locus Ba
disease_progression susceptibility no_association
ISO
DNA:polymorphisms: : DNA:polymorphism: :HLA-DQA1*0102 (human) DNA:polymorphism: :rs9272346(human)
RGD
PMID:20718347 PMID:17845309 PMID:24510573 PMID:30168489
RGD:14398754 , RGD:126925986 , RGD:14398837 , RGD:14398755
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
RT1-Bb
RT1 class II, locus Bb
treatment
ISO
RGD
PMID:29979894 PMID:29042702
RGD:14865006 , RGD:14865007
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
RT1-Ha
RT1 class II, locus Ha
disease_progression
ISO
DNA:SNP: :rs3077(human)
RGD
PMID:27051043
RGD:14694816
NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244
G
RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
severity susceptibility treatment disease_progression
ISO
DNA:SNPs, haplotype:3' utr:multiple (human) DNA:SNP: :rs9277535(human) DNA:SNP: :rs7770370(human) DNA:polymorphisms:3-UTR:rs9277534(human)
RGD
PMID:22496224 PMID:26197724 PMID:27051043 PMID:27083422
RGD:11553629 RGD:14694816 RGD:14694820 RGD:14694821
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
G
Samhd1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
ISO
associated with hepatocellular carcinoma;DNA:insertion:exon 4: (human)
RGD
PMID:24317272
RGD:149735572
NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
G
Slc10a1
solute carrier family 10 member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hepatitis B virus, resistance to
CTD ClinVar
PMID:14660639 PMID:25418280 PMID:25550158 PMID:25741868 PMID:27882152 PMID:28835676 PMID:29658451 More...
NCBI chr 6:100,613,045...100,626,670
Ensembl chr 6:100,613,045...100,626,670
G
Stat4
signal transducer and activator of transcription 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27444301
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
G
Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:27312012
RGD:39128205
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
G
Tlr2
toll-like receptor 2
treatment
ISO
RGD
PMID:30008718
RGD:15090859
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr3
toll-like receptor 3
disease_progression susceptibility
ISO
DNA:SNPs, haplotype: rs3775291,rs5743305 (human) DNA:SNP, haplotype: rs1879026(human)
RGD
PMID:30143709 PMID:22825813
RGD:21079424 , RGD:21079431
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
G
Tlr9
toll-like receptor 9
susceptibility
ISO
DNA:SNP:exon:2848G>A (rs352140) (human)
RGD
PMID:25388852
RGD:18337480
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
G
Tnf
tumor necrosis factor
treatment severity no_association
ISO
DNA:SNP:promoter:-857C>T (rs1799724) (human) DNA:SNPs:promoter:-863C>A, -308A>G (human) DNA:SNP:promoter:-308G>A (rs1800629) (human)
RGD
PMID:27644568 PMID:12915457 PMID:27644568
RGD:14975150 , RGD:14995438 , RGD:14975150
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Trem1
triggering receptor expressed on myeloid cells 1
ISO
protein:increased expression:plasma
RGD
PMID:27328755
RGD:126925974
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
G
Ugt1a1
UDP glucuronosyltransferase family 1 member A1
susceptibility
ISO
DNA:SNP: : rs8175347(human)
RGD
PMID:29239247
RGD:14401574
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
G
Ugt1a6
UDP glucuronosyltransferase family 1 member A6
susceptibility
ISO
DNA:SNP: : rs2070959(human)
RGD
PMID:29239247
RGD:14401574
NCBI chr 9:88,747,213...88,808,465
Ensembl chr 9:88,713,184...88,808,465
G
Vdr
vitamin D receptor
susceptibility disease_progression
ISO
DNA:polymorphisms, hapoltype: : DNA:polymorphisms: :
RGD
PMID:16733893 PMID:19693091
RGD:14401748 , RGD:14402030
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
G
Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:missense mutation, haplotype:cds:p.R399Q (human)
RGD
PMID:23454624
RGD:15036794
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
G
Zc3h12a
zinc finger CCCH type containing 12A
treatment
ISO
human gene in a mouse model
RGD
PMID:31926181
RGD:39938973
NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351
G
Apoe
apolipoprotein E
ISO
RGD
PMID:17101197
RGD:7771596
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
C3
complement C3
ISO
RGD
PMID:11509581
RGD:7401276
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
G
Ccl2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:cornea (mouse)
RGD
PMID:9544579
RGD:8549472
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Cd1d1
CD1d1 molecule
exacerbates
ISO
RGD
PMID:18614643
RGD:127345112
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
G
Cd274
CD274 molecule
ISO
RGD
PMID:29669784
RGD:41412169
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
G
Cd40lg
CD40 ligand
ISO
RGD
PMID:11134274
RGD:8547770
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
G
Cd8a
CD8 subunit alpha
ISO
mRNA:increased expression:trigeminal ganglion (mouse)
RGD
PMID:19151393
RGD:124715454
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
G
Dock8
dedicator of cytokinesis 8
severity
ISO
RGD
PMID:25776845
RGD:11055046
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
G
Igf2bp1
insulin-like growth factor 2 mRNA binding protein 1
ISO
RGD
PMID:30050136
RGD:40902865
NCBI chr10:80,908,300...80,951,097
Ensembl chr10:80,908,076...80,951,129
G
Il18
interleukin 18
treatment
ISO
RGD
PMID:9971824
RGD:8655923
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Il21
interleukin 21
treatment
ISO
mRNA:increased expression:spleen (mouse)
RGD
PMID:19233474 PMID:16406655
RGD:127285367 , RGD:127285372
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
G
Il33
interleukin 33
ISO
protein:increased expression:skin
RGD
PMID:26872602 PMID:26872602
RGD:39939003 , RGD:39939003
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
G
Irf5
interferon regulatory factor 5
susceptibility
ISO
associated with multiple sclerosis;DNA:SNP: :rs3807306 (human)
RGD
PMID:20861862
RGD:40924643
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
G
Mbl1
mannose binding lectin 1
ISO
protein:increased expression:serum:
RGD
PMID:15498041
RGD:8693727
NCBI chr16:17,029,146...17,035,187
Ensembl chr16:17,029,118...17,035,174
G
Mbl2
mannose binding lectin 2
susceptibility disease_progression
ISO
DNA:polymorphism:cds:
RGD
PMID:19480845 PMID:15498041 PMID:15498041
RGD:8693725 , RGD:8693727 , RGD:8693727
NCBI chr 1:228,016,439...228,024,736
G
Nectin1
nectin cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10729168
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
G
Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10729168 PMID:11602758 PMID:30319691
NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
G
Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates
ISO
RGD
PMID:30050136 PMID:25316792
RGD:40902865 , RGD:127229943
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
G
Rpl30
ribosomal protein L30
ISO
protein:increased serine phosphorylation:ribosome
RGD
PMID:7588575
RGD:11039399
NCBI chr 7:65,648,266...65,651,401
Ensembl chr 7:65,645,991...65,651,363 Ensembl chr10:65,645,991...65,651,363 Ensembl chr 1:65,645,991...65,651,363
G
Apoe
apolipoprotein E
susceptibility
ISO
DNA:polymorphism:exon:
RGD
PMID:11118260
RGD:7771554
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Aqp4
aquaporin 4
ISO
RGD
PMID:17454447
RGD:8698664
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
G
Calca
calcitonin-related polypeptide alpha
treatment
IDA
RGD
PMID:22761571
RGD:7240516
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
G
Calcr
calcitonin receptor
treatment
IDA
RGD
PMID:22761571
RGD:7240516
NCBI chr 4:31,661,270...31,736,392
Ensembl chr 4:31,661,273...31,736,392
G
Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:22377584
RGD:8661752
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
G
Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:23391218
RGD:8551839
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:22377584
RGD:8661752
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
G
Gdnf
glial cell derived neurotrophic factor
ISO
mRNA:increased expression:brain:
RGD
PMID:15950786
RGD:8657070
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
G
Il1rl1
interleukin 1 receptor-like 1
severity
ISO
RGD
PMID:26872602
RGD:39939003
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
G
Irf3
interferon regulatory factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:95,479,966...95,484,926
Ensembl chr 1:95,479,821...95,484,935
G
Lta
lymphotoxin alpha
ISO
RGD
PMID:11145686
RGD:8548806
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
G
Mmp2
matrix metallopeptidase 2
ISO
protein:increased activity:brain
RGD
PMID:15364410
RGD:8547868
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mmp9
matrix metallopeptidase 9
treatment
ISO
protein:increased activity:brain
RGD
PMID:20483026 PMID:15364410
RGD:8547867 , RGD:8547868
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
RGD
PMID:17266445
RGD:8661706
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
G
Ticam1
TIR domain containing adaptor molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:1,102,559...1,111,023
Ensembl chr 9:1,102,366...1,123,147
G
Tlr2
toll-like receptor 2
disease_progression
ISO IEP
RGD
PMID:14739339 PMID:20806060
RGD:8553026 , RGD:5130178
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr3
toll-like receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
G
Tlr4
toll-like receptor 4
IEP
RGD
PMID:20806060
RGD:5130178
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tlr9
toll-like receptor 9
resistance
IEP
mRNA:increased expression:cheek (rat)
RGD
PMID:20806060
RGD:5130178
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
G
Traf3
Tnf receptor-associated factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481
G
Unc93b1
unc-93 homolog B1, TLR signaling regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:201,167,388...201,178,343
Ensembl chr 1:201,152,693...201,178,338
G
Ankrd37
ankyrin repeat domain 37
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,268,933...46,271,971
Ensembl chr16:46,268,443...46,271,963
G
Ccdc110
coiled-coil domain containing 110
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,315,745...46,337,050
Ensembl chr16:46,315,745...46,337,021
G
Cfap96
cilia and flagella associated protein 96
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
G
Cfap97
cilia and flagella associated protein 97
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,086,104...46,135,194
Ensembl chr16:46,086,111...46,125,933
G
Cyp4v3
cytochrome P450, family 4, subfamily v, polypeptide 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,917,929...46,958,735
Ensembl chr16:46,918,401...46,943,395
G
F11
coagulation factor XI
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,987,988...47,009,015
Ensembl chr16:46,986,107...47,008,437
G
Fam149a
family with sequence similarity 149, member A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,855,377...46,914,553
Ensembl chr16:46,854,635...46,912,066
G
Fat1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
G
Klkb1
kallikrein B1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,958,634...46,982,054
Ensembl chr16:46,958,707...46,982,053
G
Lrp2bp
Lrp2 binding protein
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,241,554...46,269,221
Ensembl chr16:46,243,430...46,269,642
G
Mtnr1a
melatonin receptor 1A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:47,144,461...47,163,919
Ensembl chr16:47,144,461...47,163,919
G
Pdlim3
PDZ and LIM domain 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,352,460...46,383,680
Ensembl chr16:46,352,467...46,383,657
G
Slc25a4
solute carrier family 25 member 4
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
G
Snx25
sorting nexin 25
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,134,552...46,238,471
Ensembl chr16:46,125,804...46,238,440
G
Sorbs2
sorbin and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,435,220...46,748,743
Ensembl chr16:46,435,237...46,626,514
G
Tbk1
TANK-binding kinase 1
ISO
ClinVar Annotator: match by term: HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1
ClinVar
PMID:25700176 PMID:25803835 PMID:26476236 PMID:26581300 PMID:28492532
NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892
G
Tlr3
toll-like receptor 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis 1 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:9536098 PMID:15042513 PMID:16199547 PMID:17434873 PMID:17576681 PMID:17872438 PMID:19625408 PMID:19763152 PMID:20307669 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:22406018 PMID:24033266 PMID:25118264 PMID:25339207 PMID:25629076 PMID:25741868 PMID:26193622 PMID:26513235 PMID:27872624 PMID:28046022 PMID:28368532 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:31268141 PMID:32936395 PMID:33174085 PMID:34813006 More...
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
G
Ufsp2
UFM1-specific peptidase 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059
G
Unc93b1
unc-93 homolog B1, TLR signaling regulator
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis 1 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16973841 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 1:201,167,388...201,178,343
Ensembl chr 1:201,152,693...201,178,338
G
Adss1
adenylosuccinate synthase 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998
G
Ahnak2
AHNAK nucleoprotein 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,830,668...131,876,311
Ensembl chr 6:131,831,454...131,854,463
G
Akt1
AKT serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
G
Amn
amnion associated transmembrane protein
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
G
Ankrd9
ankyrin repeat domain 9
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,001,914...130,008,792
Ensembl chr 6:129,998,486...130,008,923
G
Aspg
asparaginase
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268
G
Atp5mj
ATP synthase membrane subunit j
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,018,737...131,024,488
Ensembl chr 1:168,472,329...168,472,610 Ensembl chr 1:168,472,329...168,472,610
G
Atp5mj-ps1
ATP synthase membrane subunit j, pseudogene 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 1:168,472,019...168,472,630
Ensembl chr 1:168,472,329...168,472,610
G
Bag5
BAG cochaperone 5
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,768,467...130,772,122
Ensembl chr 6:130,768,141...130,772,970
G
Brf1
BRF1 general transcription factor IIIB subunit
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278
G
Btbd6
BTB domain containing 6
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:132,058,094...132,060,603
Ensembl chr 6:132,058,096...132,060,587
G
C6h14orf180
similar to human chromosome 14 open reading frame 180
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,557,193...131,568,245
Ensembl chr 6:131,559,690...131,567,342
G
Cdc42bpb
CDC42 binding protein kinase beta
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377
G
Cdca4
cell division cycle associated 4
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,892,305...131,901,571
Ensembl chr 6:131,892,087...131,901,564
G
Cep170b
centrosomal protein 170B
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,780,935...131,806,658
Ensembl chr 6:131,778,957...131,806,658
G
Cinp
cyclin-dependent kinase 2-interacting protein
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:129,878,618...129,899,575
Ensembl chr 6:129,885,570...129,899,480
G
Ckb
creatine kinase B
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315
G
Clba1
clathrin binding box of aftiphilin containing 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,882,866...131,889,662
Ensembl chr 6:131,882,609...131,889,662
G
Coa8
cytochrome c oxidase assembly factor 8
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,772,218...130,797,081
Ensembl chr 6:130,771,199...130,797,081
G
Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
G
Eif5
eukaryotic translation initiation factor 5
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,589,162...130,597,656
Ensembl chr 6:130,589,143...130,597,656
G
Exoc3l4
exocyst complex component 3-like 4
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,452,680...130,466,684
Ensembl chr 6:130,452,661...130,466,683
G
Gpr132
G protein-coupled receptor 132
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,924,061...131,943,327
Ensembl chr 6:131,924,160...131,942,168
G
Hsp90aa1
heat shock protein 90 alpha family class A member 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268
G
Inf2
inverted formin 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
G
Jag2
jagged canonical Notch ligand 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,983,059...132,005,665
Ensembl chr 6:131,983,056...132,005,818
G
Kif26a
kinesin family member 26A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,214,839...131,250,874
Ensembl chr 6:131,214,861...131,250,320
G
Klc1
kinesin light chain 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,823,416...130,866,729
Ensembl chr 6:130,823,419...130,867,031
G
Mark3
microtubule affinity regulating kinase 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,626,612...130,716,245
Ensembl chr 6:130,627,482...130,716,647
G
Mok
MOK protein kinase
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:129,823,794...129,854,669
Ensembl chr 6:129,823,795...129,854,700
G
Nudt14
nudix hydrolase 14
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:132,010,309...132,017,298
Ensembl chr 6:132,010,297...132,017,298
G
Pacs2
phosphofurin acidic cluster sorting protein 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:132,096,992...132,156,702
Ensembl chr 6:132,096,901...132,154,583
G
Pld4
phospholipase D family, member 4
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,818,860...131,827,457
Ensembl chr 6:131,818,860...131,826,376
G
Ppp1r13b
protein phosphatase 1, regulatory subunit 13B
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,890,682...130,963,845
Ensembl chr 6:130,890,679...130,963,330
G
Ppp2r5c
protein phosphatase 2, regulatory subunit B', gamma
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:129,461,689...129,598,344
Ensembl chr 6:129,461,648...129,598,346
G
Rcor1
REST corepressor 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,069,606...130,146,164
Ensembl chr 6:130,069,392...130,146,153
G
Rd3l
RD3 like
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,042,274...131,044,178
Ensembl chr 6:131,042,185...131,044,163
G
Siva1
SIVA1, apoptosis-inducing factor
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,705,323...131,709,697
Ensembl chr 6:131,705,323...131,709,690
G
Tdrd9
tudor domain containing 9
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,029,644...131,145,076
Ensembl chr 6:131,029,652...131,144,651
G
Tecpr2
tectonin beta-propeller repeat containing 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974
G
Tmem179
transmembrane protein 179
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,569,289...131,580,413
Ensembl chr 6:131,569,290...131,580,305
G
Tnfaip2
TNF alpha induced protein 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,476,832...130,489,914
Ensembl chr 6:130,476,889...130,489,914
G
Traf3
Tnf receptor-associated factor 3
susceptibility
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 | ClinVar Annotator: match by term: TRAF3 haploinsufficiency | ClinVar Annotator: match by term: TRAF3 related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31681265 PMID:35960817 PMID:36004314 More...
NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481
G
Trmt61a
tRNA methyltransferase 61A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,737,230...130,743,251
Ensembl chr 6:130,737,219...130,743,243
G
Wdr20
WD repeat domain 20
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:129,751,952...129,821,464
Ensembl chr 6:129,752,014...129,847,339
G
Xrcc3
X-ray repair cross complementing 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
G
Zbtb42
zinc finger and BTB domain containing 42
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:131,734,257...131,742,459
Ensembl chr 6:131,738,356...131,742,685
G
Zfp839
zinc finger protein 839
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:129,865,859...129,885,816
Ensembl chr 6:129,864,915...129,886,389
G
Zfyve21
zinc finger FYVE-type containing 21
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:130,873,979...130,894,618
Ensembl chr 6:130,873,912...130,894,411
G
Ticam1
TIR domain containing adaptor molecule 1
susceptibility
ISO
ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 4
OMIM ClinVar
PMID:22105173 PMID:24033266 PMID:25741868 PMID:26513235 PMID:28492532
NCBI chr 9:1,102,559...1,111,023
Ensembl chr 9:1,102,366...1,123,147
G
Irf3
interferon regulatory factor 3
susceptibility
ISO
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7
OMIM ClinVar
PMID:25741868 PMID:26216125 PMID:26513235 PMID:28492532
NCBI chr 1:95,479,966...95,484,926
Ensembl chr 1:95,479,821...95,484,935
G
Apoe
apolipoprotein E
treatment
ISO
RGD
PMID:18515564
RGD:7771550
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Atm
ATM serine/threonine kinase
ameliorates
ISO
RGD
PMID:24370835
RGD:126781690
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
G
Ccl2
C-C motif chemokine ligand 2
severity
ISO
associated with Herpes Simplex, Type 1
RGD
PMID:16997857
RGD:8548890
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Ccl20
C-C motif chemokine ligand 20
ISO
RGD
PMID:15287366
RGD:7483593
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
G
Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:18798077 PMID:16476970
RGD:8551819 , RGD:8551837
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Ccr6
C-C motif chemokine receptor 6
ISO
RGD
PMID:15287366
RGD:7483593
NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603
G
Cd274
CD274 molecule
ISO
RGD
PMID:16253242
RGD:41410794
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
G
Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:18798077
RGD:8551819
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
G
Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
treatment
ISO
RGD
PMID:15670795
RGD:40902819
NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
G
Ifnb1
interferon beta 1
treatment
ISO
RGD
PMID:15670795
RGD:40902819
NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523
G
Ifng
interferon gamma
ISO
RGD
PMID:12162877
RGD:8157603
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Il10
interleukin 10
treatment
ISO
RGD
PMID:22467659
RGD:7364834
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il1b
interleukin 1 beta
ISO
mRNA:increased expression:cornea
RGD
PMID:10624423
RGD:7401196
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rn
interleukin 1 receptor antagonist
treatment
ISO
human protein in a mouse model
RGD
PMID:15258192
RGD:8549793
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il21
interleukin 21
treatment
ISO
RGD
PMID:29370719 PMID:21204603
RGD:127285376 , RGD:127285545
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
G
Il23a
interleukin 23 subunit alpha
ISO
mRNA;increased expression:trigeminal ganglion (mouse)
RGD
PMID:12162874
RGD:39457946
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
G
Kdr
kinase insert domain receptor
treatment
ISO
protein:increased expression:cornea:
RGD
PMID:16951377 PMID:16951377
RGD:8549742 , RGD:8549742
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
G
Rnasel
ribonuclease L
treatment
ISO
RGD
PMID:15670795
RGD:40902819
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
G
Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
RGD
PMID:17266445
RGD:8661706
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
G
Tlr2
toll-like receptor 2
ISO
RGD
PMID:17686871
RGD:7794851
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr4
toll-like receptor 4
ISO
mRNA:increased expression:cornea:
RGD
PMID:17686871 PMID:17667620
RGD:7794851 , RGD:8552970
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tlr9
toll-like receptor 9
ISO
RGD
PMID:17686871
RGD:7794851
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
G
Tnf
tumor necrosis factor
ISO
mRNA:increased expression:cornea
RGD
PMID:10624423 PMID:12162877
RGD:7401196 , RGD:8157603
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
F2
coagulation factor II, thrombin
treatment
ISO
RGD
PMID:11449671
RGD:40818431
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
Il10
interleukin 10
ISO
protein:decreased expression::
RGD
PMID:21954956
RGD:8663478
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il2
interleukin 2
ISO
protein:increased expression::
RGD
PMID:21954956
RGD:8663478
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Il4
interleukin 4
ISO
protein:decreased expression::
RGD
PMID:21954956
RGD:8663478
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Tnf
tumor necrosis factor
ISO
protein:increased expression::
RGD
PMID:21954956
RGD:8663478
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Atm
ATM serine/threonine kinase
ameliorates
ISO
RGD
PMID:28701397 PMID:22993144
RGD:126781689 , RGD:126781691
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
G
C3
complement C3
ISO
RGD
PMID:12196286
RGD:5129514
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
G
Ccl5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:18768196
RGD:4891912
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Ccr2
C-C motif chemokine receptor 2
ISO
associated with pulmonary fibrosis
RGD
PMID:18187693
RGD:4144903
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
G
Cd1d1
CD1d1 molecule
exacerbates
ISO
RGD
PMID:19414797
RGD:127345094
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
G
Cd46
CD46 molecule
ISO
associated with Multiple Sclerosis
RGD
PMID:19456309
RGD:6483463
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
G
Hm13
histocompatibility minor 13
treatment
ISO
RGD
PMID:24768597 PMID:31511378
RGD:40903051 , RGD:40903053
NCBI chr 3:141,145,792...141,183,557
Ensembl chr 3:141,145,782...141,184,703
G
Nectin1
nectin cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10932188
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
G
Ripk3
receptor-interacting serine-threonine kinase 3
ISO
RGD
PMID:31985117
RGD:127229917
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
G
Scn8a
sodium voltage-gated channel alpha subunit 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23382806
NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
G
Scn9a
sodium voltage-gated channel alpha subunit 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23382806
NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
G
Ren
renin
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:29752343
RGD:40400905
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
G
Cd28
Cd28 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency 123 with HPV-related verrucosis
OMIM ClinVar
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
G
Tlr3
toll-like receptor 3
ISO
ClinVar Annotator: match by term: Immunodeficiency 83, susceptibility to viral infections
ClinVar OMIM
PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:24033266 PMID:25339207 PMID:25741868 PMID:26193622 PMID:26513235 PMID:28046022 PMID:28368532 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:31268141 PMID:32936395 PMID:33174085 PMID:34813006 More...
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
G
Klrk1
killer cell lectin like receptor K1
susceptibility
ISO
RGD
PMID:18266471
RGD:38676489
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
G
Mapk8
mitogen-activated protein kinase 8
exacerbates
ISO
RGD
PMID:24673683
RGD:150340678
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
G
Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12235215
NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12235215
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
G
Fas
Fas cell surface death receptor
ISO
protein:increased expression:monocyte, neutrophil, serum:
RGD
PMID:11185989
RGD:11049152
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
G
Faslg
Fas ligand
ISO
protein:increased expression:lymphocyte, serum:
RGD
PMID:11185989
RGD:11049152
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
G
Foxp3
forkhead box P3
disease_progression
ISO
RGD
PMID:23628056
RGD:38501103
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
G
Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
RGD
PMID:22537952
RGD:10450797
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
RGD
PMID:22537952
RGD:10450797
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
Il27
interleukin 27
ISO
protein:increased expression:blood serum (human)
RGD
PMID:33571934
RGD:126790542
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism:cds:HLA-DRB1*0101 (human)
RGD
PMID:21482926
RGD:40818406
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Sod2
superoxide dismutase 2
ISO
RGD
PMID:7964476
RGD:11035288
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
G
Bptf
bromodomain PHD finger transcription factor
susceptibility
ISO
ClinVar Annotator: match by term: Kaposi sarcoma, susceptibility to
ClinVar OMIM
PMID:28492532 PMID:38380509
NCBI chr10:91,980,279...92,082,731
Ensembl chr10:91,982,758...92,082,769
G
Fgfr2
fibroblast growth factor receptor 2
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:18804962
RGD:155663668
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Kaposi's sarcoma
CTD OMIM ClinVar
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17623760 PMID:18550579 More...
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
treatment
ISO
RGD
PMID:21665152
RGD:38599159
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
G
Tp53
tumor protein p53
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:14517397
RGD:8655667
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
G
Gna14
G protein subunit alpha 14
ISO
ClinVar Annotator: match by term: Kaposiform hemangioendothelioma
ClinVar
PMID:25741868 PMID:27476652
NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423
G
Cd68
Cd68 molecule
ISO
protein:increased expression:tumor (human)
RGD
PMID:22050913
RGD:40925916
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
G
Fgfr3
fibroblast growth factor receptor 3
ISO
mRNA:decreased expression:skin (human)
RGD
PMID:28359267
RGD:38500206
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
G
Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25277525
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
G
Spa17
sperm autoantigenic protein 17
ISO
mRNA,protein:increased expression:nucleus
RGD
PMID:31218705
RGD:27226803
NCBI chr 8:37,307,432...37,318,519
Ensembl chr 8:37,307,557...37,318,639
G
Prf1
perforin 1
ISO
RGD
PMID:22396645
RGD:6482788
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
G
Tlr3
toll-like receptor 3
severity
ISO
RGD
PMID:18097050
RGD:5129216
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
G
Tlr2
toll-like receptor 2
ISO
protein:increased expression,altered expression:cytoplasm,membrane, nucleus:
RGD
PMID:24617037
RGD:8553046
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Adar
adenosine deaminase, RNA-specific
exacerbates
ISO
associated with human immunodeficiency virus infectious disease;DNA:SNPs, haplotype:introns, 3' utr: multiple (human)
RGD
PMID:31882741
RGD:125097510
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
G
Casp8
caspase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23358896
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
G
Ccna1
cyclin A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23358896
NCBI chr 2:139,231,738...139,278,066
Ensembl chr 2:139,201,074...139,243,157
G
Ccng1
cyclin G1
disease_progression
ISO
associated with cervix carcinoma; protein:increased expression:cervix (human)
RGD
PMID:16845792
RGD:2316022
NCBI chr10:25,176,231...25,182,604
Ensembl chr10:25,176,234...25,181,641
G
Cd274
CD274 molecule
ISO
associated with cervix uteri carcinoma in situ; protein:increased expression:dendritic cell
RGD
PMID:23521696
RGD:40822817
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
associated with Cervical Intraepithelial Neoplasms;protein:increased expression:uterine cervix associated with Cervix Neoplasms;protein:increased expression:uterine cervix
RGD
PMID:16415792 PMID:16406113
RGD:2296057 , RGD:2296058
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
G
Egfr
epidermal growth factor receptor
disease_progression
ISO
associated with squamous cell carcinoma
RGD
PMID:31430224
RGD:38599177
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
G
Fgfr3
fibroblast growth factor receptor 3
ISO
associated with head and neck squamous cell carcinoma;DNA:missense mutation:cds: p.S249C (human)
RGD
PMID:25056374
RGD:38500237
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
G
Foxp3
forkhead box P3
susceptibility
ISO
DNA:SNP::rs3761548(human)
RGD
PMID:31177386
RGD:38501104
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
G
Gstm1
glutathione S-transferase mu 1
ISO
DNA:deletion
RGD
PMID:16360200
RGD:2293831
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Il1rl1
interleukin 1 receptor-like 1
ISO
RGD
PMID:30935248
RGD:39938848
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
G
Mir20a
microRNA 20a
ISO
associated with oral squamous cell carcinoma
RGD
PMID:26781875
RGD:26884343
NCBI chr15:92,181,084...92,181,168
Ensembl chr15:92,181,084...92,181,168
G
Mir21
microRNA 21
ISO
RNA:increased expression:cervical cell
RGD
PMID:26010154
RGD:41404529
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
G
Mthfr
methylenetetrahydrofolate reductase
no_association
ISO
DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)
RGD
PMID:23444906
RGD:38501058
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Mx1
MX dynamin like GTPase 1
exacerbates
ISO
protein:increased expression:body wart (human)
RGD
PMID:28736973
RGD:126777683
NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507
G
Pten
phosphatase and tensin homolog
ISO
associated with tonsil cancer;protein:increased expression:tonsil (human) associated with head and neck squamous cell carcinoma;protein:increased expression:oropharynx (human)
RGD
PMID:24616007 PMID:28945300
RGD:127285601 RGD:127285613
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
RGD
PMID:12918070 PMID:12941545 PMID:19272325
RGD:2314694 , RGD:2314693 , RGD:2306228
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
susceptibility
ISO
associated with cervical cancer;DNA:polymorphism: :HLA-DPB1*040101 (human)
RGD
PMID:17349874
RGD:150429811
NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618
G
Tlr3
toll-like receptor 3
resistance
ISO
mRNA:increased expression:cervix epithelium (human)
RGD
PMID:20473890
RGD:5129102
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
G
Tlr9
toll-like receptor 9
resistance
ISO
mRNA:increased expression:cervix epithelium (human)
RGD
PMID:20473890
RGD:5129102
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
G
Vamp7
vesicle-associated membrane protein 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23358896
NCBI chr12:16,728,486...16,764,261
Ensembl chr12:16,728,524...16,764,097
G
Crp
C-reactive protein
ISO
RGD
PMID:17876605
RGD:9491593
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
G
Aicda
activation-induced cytidine deaminase
ISO
associated with Merkel cell carcinoma;protein:decreased expression::
RGD
PMID:28959124
RGD:30310234
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
G
Ccl11
C-C motif chemokine ligand 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
G
Ccl4
C-C motif chemokine ligand 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
G
Gpr179
G protein-coupled receptor 179
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25463609
NCBI chr10:82,324,568...82,340,448
Ensembl chr10:82,337,771...82,340,448
G
Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
G
Il15
interleukin 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
G
Il18
interleukin 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Irak3
interleukin-1 receptor-associated kinase 3
ISO
associated with Porcine Reproductive and Respiratory Syndrome; mRNA:decreased expression:peripheral blood mononuclear cell (pig)
RGD
PMID:26022073
RGD:36049793
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
G
Nefl
neurofilament light chain
ISO
associated with relapsing-remitting multiple sclerosis;protein:increased expression:serum (human)
RGD
PMID:33903203 PMID:30761586
RGD:127284888 , RGD:127285025
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
G
Cd274
CD274 molecule
ISO
protein:increased expression: larynx
RGD
PMID:22322668
RGD:40822813
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
G
Foxp3
forkhead box P3
susceptibility
ISO
DNA:SNPs:promoter:rs5902434,rs2232365 (human)
RGD
PMID:28298239
RGD:38549360
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
G
Nlrp1a
NLR family, pyrin domain containing 1A
ISO
ClinVar Annotator: match by term: Respiratory papillomatosis, juvenile recurrent, congenital
ClinVar OMIM
PMID:17377159 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31484767
NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180
G
Pdcd1
programmed cell death 1
ISO
RGD
PMID:22322668
RGD:40822813
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
G
RT1-Bb
RT1 class II, locus Bb
severity
ISO
DNA:polymorphisms:cds:HLA-DQB1*0201, HLA-DQB1*0602 (human) DNA:polymorphism: :HLA-DQB1*0602(human)
RGD
PMID:15336778 PMID:19861144
RGD:5147657 , RGD:36174013
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
RT1-Db1
RT1 class II, locus Db1
severity
ISO
DNA:polymorphisms:cds:HLA-DRB1*0301, HLA-DRB1*0102 (human)
RGD
PMID:15336778
RGD:5147657
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Tap1
transporter 1, ATP binding cassette subfamily B member
severity
ISO
DNA:polymorphism:cds:p.D637G(human)
RGD
PMID:14976605
RGD:5147844
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
G
Ccl20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:21715145
RGD:7483622
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
G
Clu
clusterin
ISO
RGD
PMID:11085517
RGD:8746700
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
G
Fgf10
fibroblast growth factor 10
ISO
protein:increased expression:skin (mouse)
RGD
PMID:24582960
RGD:126928134
NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
G
Mir21
microRNA 21
ameliorates
ISO
RGD
PMID:21646541
RGD:41404663
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
G
Nrg1
neuregulin 1
ISO
DNA:hypermethylation:
RGD
PMID:31892232
RGD:39456089
NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
G
Tlr2
toll-like receptor 2
ISO
protein:increased expression,altered expression:cytoplasm,membrane, nucleus:
RGD
PMID:24617037
RGD:8553046
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Irf1
interferon regulatory factor 1
treatment
ISO
DNA:SNPs,haplotype: :rs839, rs9282763(human)
RGD
PMID:18454680
RGD:42722608
NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166
G
Mthfr
methylenetetrahydrofolate reductase
treatment
ISO
DNA:SNP:exon:rs1801133(human)
RGD
PMID:18454680
RGD:42722608
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
susceptibility severity
ISO
RGD
PMID:20943971 PMID:11967338
RGD:40902816 , RGD:40902818
NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
G
Foxp3
forkhead box P3
ISO
RGD
PMID:20548030
RGD:36947870
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
G
Mavs
mitochondrial antiviral signaling protein
treatment
ISO
RGD
PMID:26849062
RGD:40903043
NCBI chr 3:118,451,650...118,466,094
Ensembl chr 3:118,451,743...118,466,094
G
Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates
ISO
RGD
PMID:19524513
RGD:127229939
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
G
Rnasel
ribonuclease L
susceptibility severity
ISO
RGD
PMID:20943971 PMID:11967338
RGD:40902816 , RGD:40902818
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
G
Was
WASP actin nucleation promoting factor
severity
ISO
RGD
PMID:15681416
RGD:38599240
NCBI chr X:14,405,105...14,413,850
Ensembl chr X:14,405,124...14,413,849
G
Cxcr4
C-X-C motif chemokine receptor 4
ISO ISS
DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human) ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1 OMIM:193670 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
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:23734232 PMID:23794067 PMID:25571909 PMID:25662009 PMID:25741868 PMID:28353164 PMID:28492532 PMID:29659363 PMID:30819232 PMID:31313072 PMID:31493092 PMID:32784523 PMID:35947323 PMID:36089616 PMID:12692554 More...
RGD:734860
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
G
Atp7a
ATPase copper transporting alpha
ISO
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
ClinVar
PMID:24550228 PMID:28492532
NCBI chr X:71,094,144...71,201,550
Ensembl chr X:71,094,202...71,198,354
G
Atrx
ATRX, chromatin remodeler
ISO
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
ClinVar
PMID:28492532
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
G
Cox7b
cytochrome c oxidase subunit 7B
ISO
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
ClinVar
PMID:24550228 PMID:28492532
NCBI chr X:71,083,486...71,089,733
Ensembl chr X:71,083,456...71,089,732
G
Magt1
magnesium transporter 1
ISO
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21796205 PMID:24550228 PMID:25135935 PMID:25504528 PMID:25640679 PMID:25741868 PMID:25956530 PMID:26422833 PMID:27770395 PMID:28353193 PMID:28492532 PMID:31036665 PMID:31993868 PMID:32499645 PMID:32581362 PMID:33831577 More...
NCBI chr X:71,038,489...71,079,704
Ensembl chr X:71,038,489...71,079,699
G
Pgk1
phosphoglycerate kinase 1
ISO
ClinVar Annotator: match by term: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
ClinVar
PMID:28492532
NCBI chr X:71,271,454...71,287,429
Ensembl chr X:71,271,440...71,287,418
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all