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.
G
Ccl7
C-C motif chemokine ligand 7
ISO
Various respiratory viruses
RGD
PMID:18579545
RGD:5130984
NCBI chr10:67,514,095...67,515,945
Ensembl chr10:67,514,091...67,515,947
G
Cd27
CD27 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12031769
NCBI chr 4:159,716,932...159,721,823
Ensembl chr 4:159,716,935...159,721,823
G
Cd46
CD46 molecule
ISO
protein:increased expression:monocyte (human)
RGD
PMID:23376460
RGD:11352813
NCBI chr13:109,104,122...109,134,903
G
Cd70
Cd70 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12031769
NCBI chr 9:2,093,540...2,096,692
Ensembl chr 9:2,086,848...2,096,692
G
Cebpb
CCAAT/enhancer binding protein beta
ISS
MouseDO
NCBI chr 3:176,817,005...176,818,436
Ensembl chr 3:176,816,859...176,838,072
G
Dock8
dedicator of cytokinesis 8
susceptibility
ISO
DNA:mutations: :
RGD
PMID:25724123
RGD:40886274
NCBI chr 1:232,075,468...232,268,830
Ensembl chr 1:232,075,588...232,268,833
G
Ifnar1
interferon alpha and beta receptor subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18722370
NCBI chr11:44,211,769...44,238,206
Ensembl chr11:44,211,845...44,238,205
G
Il15
interleukin 15
ISO
associated with Pulmonary Disease, Chronic Obstructive
RGD
PMID:21235417
RGD:4892668
NCBI chr19:42,536,160...42,611,349
Ensembl chr19:42,545,346...42,611,348
G
Oas1a
2'-5' oligoadenylate synthetase 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15732009
NCBI chr12:41,330,423...41,341,130
Ensembl chr12:41,285,211...41,341,128
G
Tnfrsf4
TNF receptor superfamily member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12031769
NCBI chr 5:171,889,134...171,891,824
Ensembl chr 5:171,889,117...171,892,616
G
Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9826579 PMID:12031769
NCBI chr 5:162,406,387...162,451,620
Ensembl chr 5:162,406,387...162,451,620
G
Tnfrsf9
TNF receptor superfamily member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12031769
NCBI chr 5:166,664,494...166,690,834
Ensembl chr 5:166,664,494...166,690,831
G
Tnfsf4
TNF superfamily member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12031769
NCBI chr13:76,256,654...76,280,133
Ensembl chr13:76,256,654...76,280,133
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12031769
NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:82,266,436...82,292,858
G
Tnfsf9
TNF superfamily member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12031769
NCBI chr 9:2,031,011...2,033,345
Ensembl chr 9:2,030,953...2,033,339
G
Abcb1a
ATP binding cassette subfamily B member 1A
treatment
ISO
DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human) DNA:SNP: : rs10276036(human)
RGD
PMID:23372834 PMID:24517233
RGD:39456119 , RGD:11098698
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:26,312,409...26,397,135
G
Arhgap44
Rho GTPase activating protein 44
disease_progression
ISO
DNA:SNPs, haplotype:intron, exon: (rs2072255, rs2072254) (human) DNA:SNP:intron: (rs2072255) (human)
RGD
PMID:28069446 PMID:21107268
RGD:401901288 , RGD:401901289
NCBI chr10:50,154,724...50,322,027
Ensembl chr10:50,154,724...50,321,897
G
Bst2
bone marrow stromal cell antigen 2
ISO
DNA:SNPs: :
RGD
PMID:26885809
RGD:14398494
NCBI chr16:18,250,593...18,254,967
Ensembl chr16:18,251,847...18,254,967
G
Ccl4
C-C motif chemokine ligand 4
ISO
DNA:SNP:3' utr:rs1719153 (human)
RGD
PMID:16773571
RGD:5683896
NCBI chr10:68,963,893...68,965,728
Ensembl chr10:68,950,289...68,965,722
G
Ccr5
C-C motif chemokine receptor 5
ISO
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to
ClinVar
PMID:9742978 PMID:12610055 PMID:12815099
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
G
Cd209d
CD209d molecule
disease_progression
ISO
associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human)
RGD
PMID:17530998
RGD:39939010
NCBI chr12:6,689,002...6,695,452
Ensembl chr12:6,689,002...6,698,976
G
Cd4
Cd4 molecule
ISO
associated with drug dependence; protein:increased expression:temporal lobe (human)
RGD
PMID:16873198
RGD:407420271
NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:159,356,337...159,381,461
G
Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:9499800
RGD:11344976
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:140,164,302...140,176,475
G
Cd68
Cd68 molecule
ISO
associated with drug dependence; protein:increased expression:temporal lobe (human)
RGD
PMID:16873198
RGD:407420271
NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,880,563...54,882,540
G
Cd8a
CD8 subunit alpha
ISO
associated with drug dependence; protein:increased expression:temporal lobe (human)
RGD
PMID:16873198
RGD:407420271
NCBI chr 4:104,924,116...104,928,353
Ensembl chr 4:104,900,833...104,928,358
G
Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
susceptibility
ISO
DNA:polymorphism:exon:p.K751Q(human)
RGD
PMID:20127180
RGD:5688740
NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:88,160,988...88,175,102
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
associated with pulmonary tuberculosis;protein:increased expression:blood (human)
RGD
PMID:32369456
RGD:39939073
NCBI chr16:74,133,259...74,145,328
Ensembl chr16:74,133,259...74,145,328
G
Ifna1
interferon, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9612607
NCBI chr 5:108,143,240...108,143,809
Ensembl chr 5:108,143,240...108,143,809
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to
CTD ClinVar
PMID:9612607 PMID:12854077
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
G
Igf2
insulin-like growth factor 2
ISO
protein:decreased expression:plasma
RGD
PMID:11232005
RGD:5509969
NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:207,243,873...207,260,667
G
Il2
interleukin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9861562
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672
G
Kir3dl1
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
severity
ISO
DNA:missense mutation:cds: p.I47V (rs643347) (human)
RGD
PMID:29461980
RGD:38676267
NCBI chr 1:78,756,035...78,796,961
Ensembl chr 1:78,757,394...78,796,715
G
Ncr1
natural cytotoxicity triggering receptor 1
ISO
protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD
PMID:27382604
RGD:40818276
NCBI chr 1:78,657,409...78,665,255
Ensembl chr 1:78,659,262...78,703,273
G
Ncr3
natural cytotoxicity triggering receptor 3
ISO
protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD
PMID:27382604
RGD:40818276
NCBI chr20:3,642,912...3,648,425
Ensembl chr20:3,642,912...3,644,188
G
RT1-CE15
RT1 class I, locus CE15
susceptibility
ISO
DNA:polymorphism: :HLA-A31
RGD
PMID:19030725
RGD:36049809
NCBI chr20:3,269,135...3,283,819
G
RT1-CE16
RT1 class I, locus CE16
susceptibility
ISO
DNA:polymorphism: :HLA-A31
RGD
PMID:19030725
RGD:36049809
NCBI chr20:3,261,656...3,265,548
G
Tnf
tumor necrosis factor
ISO
RGD
PMID:8548330
RGD:12904035
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:8548330
RGD:12904035
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816
G
Tnfrsf1b
TNF receptor superfamily member 1B
ISO
RGD
PMID:8548330
RGD:12904035
NCBI chr 5:162,356,250...162,387,411
Ensembl chr 5:162,353,848...162,387,411
G
Ifng
interferon gamma
disease_progression
ISO
protein:increased expression:T cell:
RGD
PMID:11063842
RGD:8157598
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
G
Nefl
neurofilament light chain
disease_progression
ISO
protein:increased expresssion:serum (human)
RGD
PMID:31383792
RGD:127284875
NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphism, haplotype: :
RGD
PMID:19722042 PMID:22786832
RGD:5147662 , RGD:36049763
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphisms (human) DNA:polymorphism, haplotype: :
RGD
PMID:19722042 PMID:22786832
RGD:5147662 , RGD:36049763
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165
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 3:30,560,172...30,604,758
G
Btk
Bruton tyrosine kinase
susceptibility
ISO
RGD
PMID:15140955
RGD:124713567
NCBI chr X:102,016,070...102,055,448
Ensembl chr X:102,016,074...102,055,143
G
Klrk1
killer cell lectin like receptor K1
ISO
RGD
PMID:21076062
RGD:39018557
NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:164,767,946...164,778,382
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 6:78,593,844...78,597,307
Ensembl chr 6:78,593,847...78,597,072
G
Birc5
baculoviral IAP repeat-containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16497974
NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,572,080...103,582,155
G
Bmp6
bone morphogenetic protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18688853
NCBI chr17:26,523,704...26,785,558
Ensembl chr17:26,523,704...26,675,261
G
Card11
caspase recruitment domain family, member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr12:18,735,088...18,872,045
Ensembl chr12:18,735,088...18,872,045
G
Ccr4
C-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 8:123,054,505...123,060,244
Ensembl chr 8:123,054,324...123,077,642
G
Ccr7
C-C motif chemokine receptor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr10:84,594,399...84,604,514
Ensembl chr10:84,593,594...84,604,501
G
Cd163
CD163 molecule
disease_progression
ISO
protein:increased expression:lymph node tumor (human)
RGD
PMID:23557330
RGD:42721976
NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:158,770,749...158,804,146
G
Cd274
CD274 molecule
disease_progression
ISO
RGD
PMID:27418641
RGD:41412177
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
G
Cd28
Cd28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:69,545,326...69,689,192
G
Cd68
Cd68 molecule
disease_progression
ISO
protein:increased expression:lymph node tumor (human)
RGD
PMID:23557330
RGD:42721976
NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,880,563...54,882,540
G
Cd80
Cd80 molecule
IMP
RGD
PMID:10590132
RGD:6902938
NCBI chr11:75,760,073...75,798,978
Ensembl chr11:75,760,147...75,797,540
G
Cd86
CD86 molecule
IMP
RGD
PMID:10590132
RGD:6902938
NCBI chr11:77,647,565...77,706,178
Ensembl chr11:77,647,600...77,725,361
G
Csnk1a1
casein kinase 1, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr18:57,285,156...57,320,540
Ensembl chr18:57,287,412...57,320,538
G
Csnk2a1
casein kinase 2 alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 3:161,170,295...161,217,073
Ensembl chr 3:161,170,405...161,215,698
G
Csnk2b
casein kinase 2 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr20:3,704,833...3,709,999
Ensembl chr20:3,704,904...3,710,525
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973
G
Fas
Fas cell surface death receptor
susceptibility
ISO
DNA:polymorphism:promoter: -670 G>A(human) protein:increased expression:peripheral blood mononuclear cell:
RGD
PMID:17962369 PMID:7513372
RGD:11049147 , RGD:11049453
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104
G
Foxp3
forkhead box P3
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23962110 PMID:23797717
RGD:38456007
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:17,580,380...17,595,894
G
Fyn
FYN proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr20:44,322,635...44,514,498
Ensembl chr20:44,322,361...44,515,479
G
Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr17:73,544,234...73,575,670
Ensembl chr17:73,553,548...73,575,670
G
Gpr183
G protein-coupled receptor 183
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr15:105,445,129...105,457,192
Ensembl chr15:105,437,561...105,466,977
G
Hnrnpa2b1
heterogeneous nuclear ribonucleoprotein A2/B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 4:81,867,354...81,875,886
Ensembl chr 4:81,869,661...81,877,572
G
Icos
inducible T-cell co-stimulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 9:69,862,042...69,900,864
Ensembl chr 9:69,877,785...69,900,960
G
Ifna1
interferon, alpha 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20370541
NCBI chr 5:108,143,240...108,143,809
Ensembl chr 5:108,143,240...108,143,809
G
Ifng
interferon gamma
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23962110 PMID:8800741
RGD:10755707
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
G
Ikzf2
IKAROS family zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 9:78,495,670...78,640,896
Ensembl chr 9:78,492,275...78,640,463
G
Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23962110 PMID:8704212
RGD:11049460
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Il2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23962110
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672
G
Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23962110
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549
G
Il5
interleukin 5
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:16425276
RGD:11354942
NCBI chr10:38,375,132...38,378,003
Ensembl chr10:38,375,132...38,378,003
G
Il6
interleukin 6
ISO
protein:increased expression:serum (human)
RGD
PMID:10374863
RGD:11060275
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
G
Irf4
interferon regulatory factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,930,471...33,948,730
G
Jak3
Janus kinase 3
ISO
DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human)
RGD
PMID:21821710
RGD:11531131
NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,420,415...18,433,222
G
Myb
MYB proto-oncogene, transcription factor
disease_progression
ISO
mRNA:splice variants:CD4+ T cell:
RGD
PMID:27307595
RGD:11532670
NCBI chr 1:17,759,309...17,793,306
Ensembl chr 1:17,759,309...17,792,547
G
Notch1
notch receptor 1
ISO
DNA:mutations:multiple (human)
RGD
PMID:16707600
RGD:1580759
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:29,676,171...29,721,613
G
Nras
NRAS proto-oncogene, GTPase
disease_progression
ISO
RGD
PMID:21586752
RGD:11535055
NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:193,271,430...193,278,543
G
Plcg1
phospholipase C, gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 3:169,805,299...169,836,040
Ensembl chr 3:169,804,846...169,836,050
G
Prkcb
protein kinase C, beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 1:186,263,397...186,594,743
Ensembl chr 1:186,263,447...186,594,740
G
Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24090995
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:86,311,535...86,363,359
G
Tal2
TAL bHLH transcription factor 2
ISO
RGD
PMID:1763056
RGD:1599285
NCBI chr 5:73,206,372...73,212,929
Ensembl chr 5:73,198,142...73,214,674
G
Terf2
telomeric repeat binding factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17643074
NCBI chr19:51,887,221...51,915,756
Ensembl chr19:51,887,221...51,915,566
G
Tlx1
T-cell leukemia, homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:1717256 PMID:1683261
RGD:1599439
NCBI chr 1:253,954,197...253,960,458
Ensembl chr 1:253,954,197...253,960,458
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:82,266,436...82,292,858
G
Tp53
tumor protein p53
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
G
Tp73
tumor protein p73
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:169,903,801...169,963,552
G
Vav1
vav guanine nucleotide exchange factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26437031
NCBI chr 9:2,248,856...2,295,905
Ensembl chr 9:2,248,914...2,296,922
G
Adrb2
adrenoceptor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr18:57,912,760...57,914,802
Ensembl chr18:57,911,348...57,914,803
G
Epo
erythropoietin
treatment
ISO
RGD
PMID:20818790
RGD:10395393
NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725
G
Gc
GC, vitamin D binding protein
ISO
associated with HIV Infections;protein:increased expression:cerebrospinal fluid:
RGD
PMID:17929958
RGD:5509882
NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,916,246...18,951,673
G
Il1b
interleukin 1 beta
IEP
protein:increased expression:neocortex
RGD
PMID:17678975
RGD:1626641
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
G
Insr
insulin receptor
severity
ISO
protein:increased expression:cerebrospinal fluid, plasma
RGD
PMID:22629383
RGD:10403033
NCBI chr12:5,991,135...6,129,275
Ensembl chr12:5,981,835...6,128,803
G
Irs1
insulin receptor substrate 1
severity
ISO
protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte
RGD
PMID:22629383
RGD:10403033
NCBI chr 9:91,001,137...91,053,959
Ensembl chr 9:90,993,519...91,054,538
G
Nefl
neurofilament light chain
ISO
associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human) protein:increased expression:CSF (human)
RGD
PMID:30105502 PMID:27400930
RGD:127284876 , RGD:127284885
NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515
G
Npy
neuropeptide Y
severity
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:8815163
RGD:10431910
NCBI chr 4:80,212,111...80,219,310
Ensembl chr 4:80,212,111...80,219,310
G
Oprm1
opioid receptor, mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr 1:45,565,371...45,818,722
Ensembl chr 1:45,565,371...45,638,756
G
Pdgfb
platelet derived growth factor subunit B
ISO
RGD
PMID:21368226
RGD:6482787
NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:113,420,710...113,438,343
G
Slc6a4
solute carrier family 6 member 4
ISO
RGD
PMID:25404050
RGD:38676266
NCBI chr10:62,322,688...62,357,060
Ensembl chr10:62,324,254...62,357,056
G
Agtr1a
angiotensin II receptor, type 1a
ISO
RGD
PMID:2
RGD:1303381
NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,381,467...34,435,660
G
Agtr2
angiotensin II receptor, type 2
ISO
RGD
PMID:2
RGD:1303381
NCBI chr X:116,914,320...116,918,504
Ensembl chr X:116,913,656...116,918,745
G
Egf
epidermal growth factor
ISO
RGD
PMID:19357719
RGD:6906909
NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:220,893,660...220,976,297
G
Hp
haptoglobin
ISO
protein:increased expression:urine
RGD
PMID:19279121
RGD:11041816
NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518
G
Mtor
mechanistic target of rapamycin kinase
ISO
RGD
PMID:23678040 PMID:23678040
RGD:7245474 , RGD:7245474
NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:164,167,928...164,277,435
G
Myh9
myosin, heavy chain 9
ISO
protein:decreased expression:glomerulus
RGD
PMID:22313957
RGD:6903274
NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:111,224,291...111,304,963
G
Notch4
notch receptor 4
IEP
protein: increased expression: kidney
RGD
PMID:20706108
RGD:6480788
NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,161,730...4,189,072
G
Nphs1
NPHS1 adhesion molecule, nephrin
treatment
ISO
RGD
PMID:19188342 PMID:17229913
RGD:38596324 , RGD:38599164
NCBI chr 1:94,848,261...94,876,522
Ensembl chr 1:94,848,261...94,876,521
G
Klrk1
killer cell lectin like receptor K1
treatment
ISO
RGD
PMID:23018378
RGD:39018554
NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:164,767,946...164,778,382
G
Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10861090
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:23,204,464...23,366,900
G
Cd4
Cd4 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9546790
NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:159,356,337...159,381,461
G
Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9379333
NCBI chr 5:162,406,387...162,451,620
Ensembl chr 5:162,406,387...162,451,620
G
Ccl17
C-C motif chemokine ligand 17
ISO
associated with Cystic Fibrosis
RGD
PMID:17898016
RGD:4145612
NCBI chr19:10,208,120...10,218,340
Ensembl chr19:10,208,120...10,209,895
G
Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:15951834
RGD:5688155
NCBI chr 8:132,433,711...132,439,266
Ensembl chr 8:132,431,592...132,439,374
G
Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:10946288
RGD:8661731
NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:132,611,410...132,620,059
G
Cftr
CF transmembrane conductance regulator
ISO
DNA:mutations: :
RGD
PMID:11243954
RGD:4140482
NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:47,526,735...47,694,643
G
Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:7743671
RGD:8547590
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:27,829,161...27,841,617
G
Il1a
interleukin 1 alpha
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human) DNA:SNP:intron:1011G>A(human)
RGD
PMID:11474427 PMID:16487239
RGD:4889577 , RGD:8693711
NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human)
RGD
PMID:23278646
RGD:36049760
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
associated with cystic fibrosis; DNA:polymorphisms: :
RGD
PMID:23278646
RGD:36049760
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165
G
Tlr9
toll-like receptor 9
susceptibility
ISO
DNA:SNP:promoter:g.-1237T>C rs5743836 (human)
RGD
PMID:18275280 PMID:18936185
RGD:5130863 , RGD:5130858
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148
G
Tnf
tumor necrosis factor
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Tnfrsf1a
TNF receptor superfamily member 1A
susceptibility
ISO
DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human)
RGD
PMID:20646338
RGD:5131174
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816
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:24331380 PMID:24406074 PMID:24418478 PMID:24472623 PMID:24985406 PMID:25104208 PMID:25516070 PMID:25707801 PMID:25739914 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:28973083 PMID:29104089 PMID:29107076 PMID:30046960 PMID:30290665 PMID:30307608 PMID:30778343 PMID:30858051 PMID:30877075 PMID:31031743 PMID:31130284 PMID:31503426 PMID:31520268 PMID:31632441 PMID:32000930 PMID:32373116 PMID:32445296 PMID:32447396 PMID:32655540 PMID:32670274 PMID:32888943 PMID:33193364 PMID:33365035 PMID:33628209 PMID:33954879 PMID:34224223 PMID:34664192 PMID:34889447 PMID:35281013 PMID:35303369 PMID:35503492 PMID:35729272 PMID:35902638 PMID:36279417 PMID:37724703 PMID:39062069 More...
NCBI chr 3:108,372,087...108,383,184
Ensembl chr 3:108,371,978...108,383,261
G
Aicda
activation-induced cytidine deaminase
severity
ISO
RGD
PMID:29321331
RGD:127285644
NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:157,444,697...157,456,356
G
Cd40
CD40 molecule
severity
ISO
RGD
PMID:21360722
RGD:5490303
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847
G
Rnasel
ribonuclease L
disease_progression
ISO
associated with Coronaviridae Infections associated with Middle East respiratory syndrome
RGD
PMID:28003490 PMID:27025250
RGD:40902624 , RGD:40902807
NCBI chr13:68,446,641...68,460,804
Ensembl chr13:68,446,882...68,459,557
G
Ccl20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:17545018
RGD:7483603
NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:91,836,946...91,839,736
G
Cd8a
CD8 subunit alpha
ISO
mRNA:decreased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr 4:104,924,116...104,928,353
Ensembl chr 4:104,900,833...104,928,358
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973
G
Foxp3
forkhead box P3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:17,580,380...17,595,894
G
Ifna1
interferon, alpha 1
treatment
ISO
RGD
PMID:25774455
RGD:36174028
NCBI chr 5:108,143,240...108,143,809
Ensembl chr 5:108,143,240...108,143,809
G
Il10
interleukin 10
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Il12b
interleukin 12B
treatment
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:7829774 , RGD:40400714
NCBI chr10:29,390,300...29,405,194
Ensembl chr10:29,389,905...29,405,194
G
Il2
interleukin 2
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672
G
Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:31414711
RGD:127285371
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
G
Il4
interleukin 4
treatment
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:7829774 , RGD:40400714
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549
G
Il6
interleukin 6
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
G
Klrk1
killer cell lectin like receptor K1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:164,767,946...164,778,382
G
Mapk8
mitogen-activated protein kinase 8
treatment
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,645,198...8,728,427
G
Myd88
MYD88, innate immune signal transduction adaptor
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:127,952,161...127,956,230
G
Ncr1
natural cytotoxicity triggering receptor 1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:78,657,409...78,665,255
Ensembl chr 1:78,659,262...78,703,273
G
Pdcd1
programmed cell death 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577
G
Ptpn6
protein tyrosine phosphatase, non-receptor type 6
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr 4:159,212,320...159,237,069
Ensembl chr 4:159,212,320...159,237,069
G
Serpinf1
serpin family F member 1
disease_progression
ISO
mRNA, protein:decreased expression:skin of body (human)
RGD
PMID:23569025
RGD:27226706
NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898
G
Tgfb1
transforming growth factor, beta 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899
G
Tlr2
toll-like receptor 2
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
G
Tlr3
toll-like receptor 3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
G
Tlr4
toll-like receptor 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
G
Tlr7
toll-like receptor 7
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:30,644,324...30,670,796
Ensembl chr X:30,644,355...30,672,151
G
Tlr8
toll-like receptor 8
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:30,708,714...30,733,104
Ensembl chr X:30,708,033...30,737,079
G
Tlr9
toll-like receptor 9
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Tnfrsf18
TNF receptor superfamily member 18
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 5:171,901,734...171,904,578
Ensembl chr 5:171,901,717...171,904,576
G
Atm
ATM serine/threonine kinase
ISO
RGD
PMID:21641396
RGD:126779561
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629
G
Cd1d1
CD1d1 molecule
ISO
RGD
PMID:32153566
RGD:127345122
NCBI chr 2:174,721,522...174,725,029
Ensembl chr 2:174,721,522...174,725,029
G
Il21
interleukin 21
ISO
RGD
PMID:21423809
RGD:127285543
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
G
Il27
interleukin 27
ISO
mRNA, protein:increased expression:spleen (mouse)
RGD
PMID:29593047
RGD:126790521
NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:190,603,522...190,609,258
G
Mapk8
mitogen-activated protein kinase 8
ISO
RGD
PMID:11927625
RGD:150340679
NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,645,198...8,728,427
G
Stat2
signal transducer and activator of transcription 2
ameliorates
ISO
RGD
PMID:15723812
RGD:41789630
NCBI chr 7:1,287,025...1,302,858
Ensembl chr 7:1,287,024...1,303,459
G
Tfrc
transferrin receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17287727
NCBI chr11:81,668,478...81,690,318
Ensembl chr11:81,668,478...81,690,318
G
Ager
advanced glycosylation end product-specific receptor
ISO
DNA:SNP:promoter:-374T>A (human)
RGD
PMID:22114731
RGD:8695981
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,151,965...4,155,685
G
Ccl19
C-C motif chemokine ligand 19
ISO
associated with Neutropenia;mRNA:increased expression:lung
RGD
PMID:19783686
RGD:5130908
NCBI chr 5:61,759,220...61,761,164
Ensembl chr 5:61,759,220...61,772,022
G
Ccr7
C-C motif chemokine receptor 7
ISO
associated with Neutropenia
RGD
PMID:19783686
RGD:5130908
NCBI chr10:84,594,399...84,604,514
Ensembl chr10:84,593,594...84,604,501
G
Cd209d
CD209d molecule
ISO
RGD
PMID:21381282
RGD:5131183
NCBI chr12:6,689,002...6,695,452
Ensembl chr12:6,689,002...6,698,976
G
Cftr
CF transmembrane conductance regulator
severity
ISO
RGD
PMID:22135344
RGD:35673332
NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:47,526,735...47,694,643
G
Clec1a
C-type lectin domain family 1, member A
susceptibility
ISO
ClinVar Annotator: match by term: Aspergillosis, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:29489751
NCBI chr 4:164,561,385...164,588,593
Ensembl chr 4:164,563,374...164,587,269
G
Clec7a
C-type lectin domain containing 7A
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CLEC7A-related condition
CTD OMIM ClinVar
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 4:164,588,737...164,599,953
Ensembl chr 4:164,588,754...164,599,919
G
Crp
C-reactive protein
treatment
ISO
RGD
PMID:20879853
RGD:9495929
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514
G
Il15
interleukin 15
ISO
DNA:polymorphism (human)
RGD
PMID:16893395
RGD:4981337
NCBI chr19:42,536,160...42,611,349
Ensembl chr19:42,545,346...42,611,348
G
Mbl1
mannose binding lectin 1
susceptibility
ISO
RGD
PMID:20064561
RGD:8694071
NCBI chr16:17,063,232...17,069,271
Ensembl chr16:17,060,703...17,069,271
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
RGD
PMID:20064561
RGD:8694071
NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546
G
S100b
S100 calcium binding protein B
ISO
DNA:SNP: :427C>T (human)
RGD
PMID:22114731
RGD:8695981
NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,348...12,381,081
G
Tlr1
toll-like receptor 1
susceptibility
ISO
DNA:SNPs: :p.R80T, p.N248S (human)
RGD
PMID:16461792
RGD:4889535
NCBI chr14:43,737,761...43,750,389
Ensembl chr14:43,740,379...43,756,243
G
Tlr2
toll-like receptor 2
ISO
mRNA:increased expression:lung
RGD
PMID:19781388
RGD:4145322
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
G
Tlr6
toll-like receptor 6
susceptibility
ISO
DNA:SNP: :p.S249P (human)
RGD
PMID:16461792
RGD:4889535
NCBI chr14:43,715,809...43,727,019
Ensembl chr14:43,698,751...43,740,462
G
Rela
RELA proto-oncogene, NF-kB subunit
ISO
ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic | ClinVar Annotator: match by term: RELA-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28600438 PMID:29758562 PMID:32969189 PMID:35412596 PMID:36926348 More...
NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:212,333,035...212,364,817
G
Sipa1
signal-induced proliferation-associated 1
ISO
ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic
ClinVar
PMID:25741868 PMID:28492532 PMID:28600438 PMID:36926348
NCBI chr 1:212,367,867...212,379,952
Ensembl chr 1:212,367,867...212,377,497
G
Ace2
angiotensin converting enzyme 2
severity treatment
ISO
human protein in a mouse model
RGD
PMID:24800825 PMID:24800825
RGD:32716391 , RGD:32716391
NCBI chr X:33,925,458...33,972,851
Ensembl chr X:33,925,458...33,971,596
G
Mx1
MX dynamin like GTPase 1
susceptibility
ISO
CTD Direct Evidence: therapeutic human gene in a mouse model
CTD RGD
PMID:178595 PMID:28396461
RGD:126777675
NCBI chr11:50,269,056...50,294,699
Ensembl chr11:50,269,057...50,292,904
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:18613795
RGD:5135502
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320
G
Ripk3
receptor-interacting serine-threonine kinase 3
ameliorates
ISO
RGD
PMID:28423682
RGD:127229942
NCBI chr15:33,253,071...33,262,025
Ensembl chr15:33,253,071...33,262,025
G
Rhob
ras homolog family member B
IDA
RGD
PMID:1710770
RGD:704375
NCBI chr 6:37,083,030...37,085,204
Ensembl chr 6:37,075,015...37,112,772
G
Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:decreased expression:serum (human)
RGD
PMID:25539588
RGD:11541121
NCBI chr10:92,090,263...92,152,002
Ensembl chr10:92,090,235...92,151,839
G
Ppia
peptidylprolyl isomerase A
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:32149981
RGD:150429625
NCBI chr14:85,491,223...85,496,884
Ensembl chr14:85,492,484...85,497,115
G
Aldoc
aldolase, fructose-bisphosphate C
IEP
mRNA, protein:decreased expression:cerebellum, Purkinje cell
RGD
PMID:17182680
RGD:2301132
NCBI chr10:63,715,544...63,719,133
Ensembl chr10:63,715,489...63,719,133
G
Atf4
activating transcription factor 4
IEP
protein:increased expression:cerebellum
RGD
PMID:16912310
RGD:32733622
NCBI chr 7:113,684,681...113,686,739
Ensembl chr 7:113,684,681...113,686,739
G
Atf6
activating transcription factor 6
IEP
protein:increased expression:cerebellum, hippocampus
RGD
PMID:16912310
RGD:32733622
NCBI chr13:85,460,312...85,639,959
Ensembl chr13:85,462,840...85,640,033
G
Bdnf
brain-derived neurotrophic factor
IEP
mRNA:decreased expression:hippocampus
RGD
PMID:11175319
RGD:2325644
NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657
G
Cd44
CD44 molecule
IEP
RGD
PMID:16612977
RGD:2289373
NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:109,612,054...109,699,424
G
Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
RGD
PMID:12053272
RGD:4891998
NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,233,329...10,242,999
G
Cx3cr1
C-X3-C motif chemokine receptor 1
IEP
mRNA:increased expression:brain
RGD
PMID:12053272
RGD:4891998
NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:128,654,833...128,685,983
G
Ddit3
DNA-damage inducible transcript 3
IEP
mRNA,protein:increased expression:cerebellum, hippocampus
RGD
PMID:16912310
RGD:32733622
NCBI chr 7:65,001,695...65,006,517
Ensembl chr 7:65,005,501...65,006,509
G
Eif2a
eukaryotic translation initiation factor 2A
IEP
protein:increased expression:cerebellum,hippocampus
RGD
PMID:16912310
RGD:32733622
NCBI chr 2:144,911,247...144,944,705
Ensembl chr 2:144,911,153...144,945,201
G
Gja1
gap junction protein, alpha 1
IEP
RGD
PMID:18538309
RGD:7364785
NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689
G
Gjb6
gap junction protein, beta 6
IEP
RGD
PMID:18538309
RGD:7364785
NCBI chr15:35,400,147...35,410,649
Ensembl chr15:35,398,770...35,410,849
G
Igf1
insulin-like growth factor 1
IEP
mRNA:increased expression:hippocampus
RGD
PMID:11175319
RGD:2325644
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764
G
Il16
interleukin 16
IEP
protein:increased expression:brain
RGD
PMID:14698845
RGD:1354526
NCBI chr 1:147,026,852...147,127,177
Ensembl chr 1:147,027,097...147,127,023
G
Mif
macrophage migration inhibitory factor
IEP
protein:increased expression:astrocyte
RGD
PMID:11870869
RGD:1642006
NCBI chr20:12,767,138...12,791,222
Ensembl chr 4:134,041,774...134,042,121 Ensembl chr20:134,041,774...134,042,121
G
Mt3
metallothionein 3
IEP
RGD
PMID:16612977
RGD:2289373
NCBI chr19:10,854,676...10,856,080
Ensembl chr19:10,854,677...10,856,080
G
Ngf
nerve growth factor
IEP
mRNA:decreased expression:hippocampus
RGD
PMID:11175319
RGD:2325644
NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:192,589,582...192,643,834
G
Ntf3
neurotrophin 3
IEP
mRNA:decreased expression:hippocampus
RGD
PMID:11175319
RGD:2325644
NCBI chr 4:160,601,161...160,670,623
Ensembl chr 4:160,600,770...160,676,349
G
Ntrk2
neurotrophic receptor tyrosine kinase 2
IEP
mRNA:decreased expression:cerebellum,hippocampus
RGD
PMID:11175319
RGD:2325644
NCBI chr17:5,560,558...5,875,899
Ensembl chr17:5,564,570...5,874,628
G
Ntrk3
neurotrophic receptor tyrosine kinase 3
IEP
mRNA:decreased expression:cerebellum,hippocampus
RGD
PMID:11175319
RGD:2325644
NCBI chr 1:141,526,192...141,913,575
Ensembl chr 1:141,542,569...141,913,004
G
Parg
poly (ADP-ribose) glycohydrolase
IEP
mRNA:decreased expression:hippocampus
RGD
PMID:18057239
RGD:2316738
NCBI chr16:7,442,696...7,550,585
Ensembl chr16:7,442,726...7,550,584
G
Parp1
poly (ADP-ribose) polymerase 1
IEP
mRNA,protein:increased expression,increased activity:neuron, glial cell:
RGD
PMID:18057239
RGD:2316738
NCBI chr13:94,839,484...94,871,295
Ensembl chr13:94,839,433...94,871,567
G
S100b
S100 calcium binding protein B
IEP
protein:decreased expression:cerebellum, cerebral cortex
RGD
PMID:17376896
RGD:5508841
NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,348...12,381,081
G
Slc6a4
solute carrier family 6 member 4
IEP
protein:increased expression:brain (rat)
RGD
PMID:12106671
RGD:38549588
NCBI chr10:62,322,688...62,357,060
Ensembl chr10:62,324,254...62,357,056
G
Xbp1
X-box binding protein 1
IEP
mRNA,protein:altered expression:cerebellum,hippocampus
RGD
PMID:16912310
RGD:32733622
NCBI chr14:84,604,623...84,609,707
Ensembl chr14:84,604,107...84,609,706
G
C3
complement C3
ISO
protein:increased expression:serum
RGD
PMID:3361150
RGD:11041575
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339
G
Cfb
complement factor B
ISO
protein:increased expression:serum
RGD
PMID:3361150
RGD:11041575
NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,955,776...3,981,740
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:14507644
RGD:5135450
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:14507644
RGD:5135450
NCBI chr14:16,007,166...16,012,077
Ensembl chr14:16,007,204...16,014,299
G
Birc2
baculoviral IAP repeat-containing 2
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr 8:13,253,697...13,273,672
Ensembl chr 8:13,253,706...13,271,911
G
Birc3
baculoviral IAP repeat-containing 3
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:13,285,703...13,298,590
G
Stat2
signal transducer and activator of transcription 2
exacerbates
ISO
RGD
PMID:30814285
RGD:41789623
NCBI chr 7:1,287,025...1,302,858
Ensembl chr 7:1,287,024...1,303,459
G
A4galt
alpha 1,4-galactosyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11482875
NCBI chr 7:116,248,571...116,272,917
Ensembl chr 7:116,247,880...116,273,171
G
Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386
G
Bbc3
Bcl-2 binding component 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18573879
NCBI chr 1:86,141,450...86,150,666
Ensembl chr 1:86,141,603...86,150,666
G
Bcl2l2
Bcl2-like 2
ISO
mRNA:increased expression:lymph node
RGD
PMID:28094768
RGD:14394511
NCBI chr15:32,326,686...32,337,834
Ensembl chr15:32,326,020...32,335,379
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 chr10:86,917,693...86,978,012
Ensembl chr10:86,917,693...86,977,763
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:102,016,070...102,055,448
Ensembl chr X:102,016,074...102,055,143
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 chr19:40,213,367...40,218,262
Ensembl chr19:40,213,239...40,219,236
G
Cct6b
chaperonin containing TCP1 subunit 6B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr10:68,150,111...68,198,932
Ensembl chr10:68,150,111...68,198,847
G
Cd40
CD40 molecule
treatment
ISO
human cell line in a mouse model
RGD
PMID:9192773
RGD:11520790
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847
G
Cd79b
CD79b molecule
treatment
ISO
human cells in mouse model
RGD
PMID:17374736
RGD:151665154
NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,739,137...91,742,405
G
Ftcd
formimidoyltransferase cyclodeaminase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr20:12,054,710...12,068,219
Ensembl chr20:12,054,711...12,068,237
G
Gna13
G protein subunit alpha 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr10:94,837,271...94,870,290
Ensembl chr10:94,836,444...94,874,968
G
Id3
inhibitor of DNA binding 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143595 PMID:23143597
NCBI chr 5:153,656,253...153,657,860
Ensembl chr 5:153,630,498...153,657,856
G
Mir21
microRNA 21
treatment
ISO
RGD
PMID:27991481
RGD:41404643
NCBI chr10:71,902,600...71,902,691
G
Mir23b
microRNA 23b
treatment
ISO
RGD
PMID:27991481
RGD:41404643
NCBI chr17:1,819,386...1,819,482
G
Mllt11
MLLT11, transcription factor 7 cofactor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31587870
NCBI chr 2:185,484,791...185,493,961
Ensembl chr 2:185,484,793...185,493,961
G
Myc
MYC proto-oncogene, bHLH transcription factor
ISO ISS
ClinVar Annotator: match by term: Burkitt lymphoma | ClinVar Annotator: match by term: MYC-related condition OMIM:113970 CTD Direct Evidence: marker/mechanism DNA:mutations:exons:multiple (human)
ClinVar MouseDO CTD OMIM RGD
PMID:8220424 PMID:25741868 PMID:27993330 PMID:32934698 PMID:8220424 PMID:8397370 More...
RGD:1601453 , RGD:10059619
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:95,483,105...95,488,028
G
Pbx1
PBX homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1967982 PMID:17244677
NCBI chr13:82,811,664...83,121,447
Ensembl chr13:82,812,131...83,121,066
G
Pc
pyruvate carboxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 1:211,228,708...211,327,792
Ensembl chr 1:211,228,731...211,329,940
G
Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:34,612,946...34,626,347
G
Ret
ret proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:152,998,812...153,040,556
G
Sall3
spalt-like transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr18:76,680,997...76,700,905
Ensembl chr18:76,681,005...76,700,905
G
Smarca4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23143597
NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070
G
Tcf3
transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1967982 PMID:17244677
NCBI chr 7:9,931,251...9,952,994
Ensembl chr 7:9,928,685...9,953,044
G
Fut2
fucosyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12692541
NCBI chr 1:105,256,013...105,276,828
Ensembl chr 1:105,255,390...105,276,647
G
Cd1d1
CD1d1 molecule
ameliorates
ISO
associated with endotoxemia
RGD
PMID:32154791
RGD:127345119
NCBI chr 2:174,721,522...174,725,029
Ensembl chr 2:174,721,522...174,725,029
G
Ephb2
Eph receptor B2
exacerbates
ISO
RGD
PMID:33685996
RGD:127229905
NCBI chr 5:154,179,065...154,360,459
Ensembl chr 5:154,179,065...154,360,615
G
Aire
autoimmune regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12050215
NCBI chr20:10,635,775...10,650,709
Ensembl chr20:10,635,775...10,650,709
G
Chrm2
cholinergic receptor, muscarinic 2
ISO
RGD
PMID:19958780
RGD:5509581
NCBI chr 4:65,981,136...66,116,128
Ensembl chr 4:65,981,006...66,126,464
G
Il33
interleukin 33
treatment
ISO
RGD
PMID:22661085
RGD:40400896
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:237,115,572...237,150,901
G
Ltf
lactotransferrin
ISO
RGD
PMID:17922408
RGD:7243948
NCBI chr 8:119,878,344...119,901,189
Ensembl chr 8:119,878,344...119,901,189
G
Mapk8
mitogen-activated protein kinase 8
ameliorates
ISO
RGD
PMID:28112734
RGD:150340684
NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,645,198...8,728,427
G
Ncr1
natural cytotoxicity triggering receptor 1
disease_progression
ISO
RGD
PMID:27736647
RGD:40818241
NCBI chr 1:78,657,409...78,665,255
Ensembl chr 1:78,659,262...78,703,273
G
Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates
ISO
RGD
PMID:30944411
RGD:127229913
NCBI chr15:33,253,071...33,262,025
Ensembl chr15:33,253,071...33,262,025
G
Clec7a
C-type lectin domain containing 7A
susceptibility
ISO
ClinVar Annotator: match by term: CLEC7A-related condition | ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 4:164,588,737...164,599,953
Ensembl chr 4:164,588,754...164,599,919
G
Il17f
interleukin 17F
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 6 | ClinVar Annotator: match by term: IL17F-related condition
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29458167 PMID:30290665 PMID:32047491 PMID:32185379 PMID:34587561 PMID:35753512 PMID:35874679 More...
NCBI chr 9:30,686,532...30,697,918
Ensembl chr 9:30,686,538...30,697,918
G
Traf3ip2
Traf3 interacting protein 2
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 8 | ClinVar Annotator: match by term: TRAF3IP2-related condition
ClinVar OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20953186 PMID:20953188 PMID:22513239 PMID:22581863 PMID:24033266 PMID:24120361 PMID:25741868 PMID:28492532 PMID:31292894 More...
NCBI chr20:44,565,992...44,609,240
Ensembl chr20:44,517,242...44,609,618
G
Brk1
BRICK1 subunit of SCAR/WAVE actin nucleating complex
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:148,306,436...148,321,668
Ensembl chr 4:148,306,398...148,321,984
G
Cidec
cell death-inducing DFFA-like effector c
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:148,124,924...148,137,806
Ensembl chr 4:148,124,925...148,137,806
G
Creld1
cysteine-rich with EGF-like domains 1
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:148,187,510...148,197,120
Ensembl chr 4:148,187,265...148,197,116
G
Emc3
ER membrane protein complex subunit 3
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:148,218,686...148,234,595
Ensembl chr 4:148,217,395...148,234,595
G
Fancd2
FA complementation group D2
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:148,234,633...148,299,035
Ensembl chr 4:148,234,708...148,299,035
G
Fancd2os
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:148,296,478...148,303,037
Ensembl chr 4:148,296,552...148,303,328
G
Il17rc
interleukin 17 receptor C
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9 | ClinVar Annotator: match by term: IL17RC-related condition
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25918342 PMID:28492532 PMID:37395078 More...
NCBI chr 4:148,174,573...148,187,071
Ensembl chr 4:148,174,578...148,187,068
G
Il17re
interleukin 17 receptor E
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:148,160,384...148,173,830
Ensembl chr 4:148,159,475...148,173,827
G
Jagn1
jagunal homolog 1
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:148,147,213...148,151,915
Ensembl chr 4:148,147,229...148,151,915
G
Prrt3
proline-rich transmembrane protein 3
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:148,196,800...148,206,086
Ensembl chr 4:148,196,800...148,205,944
G
Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:148,328,079...148,334,991
G
Ace2
angiotensin converting enzyme 2
ISO
encephalomyocarditis virus;mRNA, protein:decreased expression, increased expression:heart (mouse)
RGD
PMID:19453650
RGD:40818405
NCBI chr X:33,925,458...33,972,851
Ensembl chr X:33,925,458...33,971,596
G
Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
ISO
RGD
PMID:21636578
RGD:40902809
NCBI chr 6:21,941,147...21,977,115
Ensembl chr 6:21,952,631...21,977,116
G
Ifnar1
interferon alpha and beta receptor subunit 1
susceptibility
IMP
RGD
PMID:27999109 PMID:27999109
RGD:12910492 , RGD:12910492
NCBI chr11:44,211,769...44,238,206
Ensembl chr11:44,211,845...44,238,205
G
Ifnar1em1
interferon alpha and beta receptor subunit 1; CRISPR/Cas9 induced mutant 1
IMP
RGD
PMID:27999109
RGD:12910492
G
Ifnar1em2
interferon alpha and beta receptor subunit 1; CRISPR/Cas9 induced mutant 2
IMP
RGD
PMID:27999109
RGD:12910492
G
Il33
interleukin 33
ISO
mRNA:increased expression:brain:
RGD
PMID:18552204
RGD:40400716
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:237,115,572...237,150,901
G
Pde12
phosphodiesterase 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26055709
NCBI chr16:1,926,807...1,932,383
Ensembl chr16:1,922,131...1,932,611
G
Rnasel
ribonuclease L
ISO
RGD
PMID:21636578
RGD:40902809
NCBI chr13:68,446,641...68,460,804
Ensembl chr13:68,446,882...68,459,557
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10609881
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Gria1
glutamate ionotropic receptor AMPA type subunit 1
IEP
mRNA:increased expression:hippocampus (rat)
RGD
PMID:19660546
RGD:2325963
NCBI chr10:41,710,540...42,030,105
Ensembl chr10:41,711,080...42,030,309
G
Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
IEP
mRNA:increased expression:hippocampus (rat)
RGD
PMID:19660546
RGD:2325963
NCBI chr10:6,136,458...6,560,003
Ensembl chr10:6,138,037...6,551,378
G
Plat
plasminogen activator, tissue type
IEP
protein:increased expression:cerebellum (rat)
RGD
PMID:19279110
RGD:11537478
NCBI chr16:75,943,061...76,022,037
Ensembl chr16:75,943,064...75,967,696
G
Bst2
bone marrow stromal cell antigen 2
ISO
RGD
PMID:25053563
RGD:14398493
NCBI chr16:18,250,593...18,254,967
Ensembl chr16:18,251,847...18,254,967
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphism:cds: HLA-DQB1*03:03 (human)
RGD
PMID:23710940
RGD:36049872
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
G
Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:16118671
RGD:8549760
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
G
Cd40
CD40 molecule
ISO
RGD
PMID:20102413
RGD:5132268
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847
G
Foxp3
forkhead box P3
treatment
ISO
RGD
PMID:30832593
RGD:38455984
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:17,580,380...17,595,894
G
Icam1
intercellular adhesion molecule 1
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:19728926
RGD:4145507
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:27,829,161...27,841,617
G
Ido1
indoleamine 2,3-dioxygenase 1
treatment
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:30832593 PMID:31249813
RGD:38455984 , RGD:39938856
NCBI chr16:74,133,259...74,145,328
Ensembl chr16:74,133,259...74,145,328
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19203382
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
G
Il13
interleukin 13
ISO
RGD
PMID:21573182
RGD:5684365
NCBI chr10:38,290,926...38,293,483
Ensembl chr10:38,290,926...38,293,483
G
Il17a
interleukin 17A
ISO
associated with Bronchial Hyprractivity; mRNA:increased expression:lung
RGD
PMID:20228193 PMID:19812198
RGD:4888528 , RGD:4889101
NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:30,640,844...30,644,331
G
Mir21
microRNA 21
ISO
associated with asthma;RNA:increased expression:lung
RGD
PMID:27448447
RGD:41404696
NCBI chr10:71,902,600...71,902,691
G
Tgfb1
transforming growth factor, beta 1
treatment
ISO
RGD
PMID:30832593
RGD:38455984
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19203382
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Cd274
CD274 molecule
ISO
mRNA:increased expression:lung
RGD
PMID:26378990
RGD:41412180
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
G
Pdcd1
programmed cell death 1
ISO
mRNA:increased expression:lung
RGD
PMID:26378990
RGD:41412180
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270
G
Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
severity
ISO
RGD
PMID:29893841
RGD:40890270
NCBI chr 5:165,377,994...165,426,620
Ensembl chr 5:165,377,994...165,403,968
G
Ccl24
C-C motif chemokine ligand 24
ISO
protein:increased expression:plasma:
RGD
PMID:26615570
RGD:11538286
NCBI chr12:26,737,423...26,741,420
Ensembl chr12:26,737,439...26,750,924
G
Cd28
Cd28 molecule
ISO
RGD
PMID:18801465
RGD:5131614
NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:69,545,326...69,689,192
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
ClinVar Annotator: match by term: chronic fatigue syndrome with infection-triggered onset
ClinVar
PMID:12724780 PMID:15199380 PMID:25741868 PMID:28492532
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973
G
Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
protein:decreased expression:plasma:
RGD
PMID:26615570
RGD:11538286
NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,233,329...10,242,999
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:decreased expression:plasma:
RGD
PMID:26615570
RGD:11538286
NCBI chr14:16,007,166...16,012,077
Ensembl chr14:16,007,204...16,014,299
G
Disc1
DISC1 scaffold protein
susceptibility
ISO
DNA:SNP:Cds:p.S704C(human)
RGD
PMID:20227423
RGD:5509831
NCBI chr19:69,911,548...70,120,970
Ensembl chr19:69,911,976...70,120,970
G
Il16
interleukin 16
ISO
protein:decreased expression:plasma:
RGD
PMID:26615570
RGD:11538286
NCBI chr 1:147,026,852...147,127,177
Ensembl chr 1:147,027,097...147,127,023
G
Prf1
perforin 1
ISO
RGD
PMID:21619669
RGD:6482801
NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,788,972...29,795,124
G
Ptpn22
protein tyrosine phosphatase, non-receptor type 22
ISO
ClinVar Annotator: match by term: chronic fatigue syndrome with infection-triggered onset
ClinVar
PMID:15004560 PMID:15208781 PMID:15273934 PMID:15580548 PMID:15719322 PMID:15744042 PMID:16273109 PMID:16339849 PMID:16470599 PMID:17170052 PMID:17436241 PMID:17554300 PMID:17878369 PMID:18301444 PMID:18978792 PMID:19265110 PMID:19898480 PMID:21841778 PMID:28492532 More...
NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:194,045,746...194,103,209
G
Ren
renin
ISO
associated with Postural Orthostatic Tachycardia Syndrome; protein:increased activity:plasma (human)
RGD
PMID:21906029
RGD:6892702
NCBI chr13:47,348,312...47,359,539
Ensembl chr13:47,348,143...47,359,543
G
RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphism: :HLA-DQA1*01 (human)
RGD
PMID:16049290 PMID:16049290
RGD:5147827 , RGD:5147827
NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653
G
Serpinf1
serpin family F member 1
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16321154
RGD:28867246
NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898
G
Slc6a4
solute carrier family 6 member 4
severity
ISO
DNA:repeats:promoter: protein:decreased expression:rostral anterior cingulate cortex (human) DNA:repeats, haplotype:promoter:
RGD
PMID:14592408 PMID:15570154 PMID:26473596
RGD:36947383 , RGD:38500210 , RGD:11098915
NCBI chr10:62,322,688...62,357,060
Ensembl chr10:62,324,254...62,357,056
G
Trpc6
transient receptor potential cation channel, subfamily C, member 6
ISO
DNA:SNPs: :
RGD
PMID:27834303
RGD:40886272
NCBI chr 8:14,044,216...14,148,808
Ensembl chr 8:14,043,877...14,149,304
G
Vegfa
vascular endothelial growth factor A
ISO
protein:decreased expression:plasma:
RGD
PMID:26615570
RGD:11538286
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194
G
Adar
adenosine deaminase, RNA-specific
treatment
ISO
DNA:SNP:enhancer: (rs4845384) (human)
RGD
PMID:24351124
RGD:125097515
NCBI chr 2:177,436,076...177,475,969
Ensembl chr 2:177,436,094...177,475,971
G
Apoa1
apolipoprotein A1
ISO
protein:decreased expression protein:decreased expression:plasma (human) mRNA, protein:decreased expression:liver, serum (human)
RGD
PMID:21726101 PMID:25115832 PMID:27015844
RGD:5508214 , RGD:25671433 , RGD:25671432
NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:55,423,825...55,425,729
G
Apoe
apolipoprotein E
susceptibility
ISO
DNA:missense mutations:cds:p.C112R, p.R158C (human)
RGD
PMID:20961200
RGD:14401585
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855
G
Birc3
baculoviral IAP repeat-containing 3
ameliorates
ISO
RGD
PMID:25902529
RGD:152998939
NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:13,285,703...13,298,590
G
C2
complement C2
susceptibility
IAGP
DNA:SNP:exon: p.Glu318Asp (human)
RGD
PMID:22610944
RGD:40886317
NCBI chr20:3,944,722...3,975,006
Ensembl chr20:3,955,776...3,981,740
G
Ccl2
C-C motif chemokine ligand 2
ISO
protein:decreased expression:serum:
RGD
PMID:26281331
RGD:14995947
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
G
Ccl5
C-C motif chemokine ligand 5
severity
ISO
RGD
PMID:17711627
RGD:14995339
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,738,651...68,824,884
G
Ccn2
cellular communication network factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17657819
NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:22,621,501...22,624,976
G
Cd163
CD163 molecule
ISO
protein:increased expression:blood serum (human)
RGD
PMID:26339412
RGD:11251207
NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:158,770,749...158,804,146
G
Cd1d1
CD1d1 molecule
ISO
associated with hepatocellular carcinoma;mRNA:increased expression:liver (human)
RGD
PMID:29643189
RGD:127345114
NCBI chr 2:174,721,522...174,725,029
Ensembl chr 2:174,721,522...174,725,029
G
Cd274
CD274 molecule
treatment
ISO
protein:increased expression:regulatory T cell
RGD
PMID:26266813 PMID:20460044
RGD:11344683 , RGD:41412166
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
G
Cemip2
cell migration inducing hyaluronidase 2
susceptibility
ISO
DNA:SNP:exon: p.Ser1254Asn (human)
RGD
PMID:22610944
RGD:40886317
NCBI chr 1:228,756,826...228,834,313
Ensembl chr 1:228,757,466...228,832,906
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNP: :-318C>T(human)
RGD
PMID:16489681
RGD:14398727
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973
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 chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261
G
Eif2ak3
eukaryotic translation initiation factor 2 alpha kinase 3
ISO
RGD
PMID:26234401
RGD:32716425
NCBI chr 4:104,363,838...104,425,271
Ensembl chr 4:104,363,833...104,425,268
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:17,580,380...17,601,181
Ensembl chr X:17,580,380...17,595,894
G
Gpt
glutamic--pyruvic transaminase
treatment disease_progression
ISO
RGD
PMID:29279233 PMID:28007350
RGD:14975159 , RGD:14975240
NCBI chr 7:110,295,599...110,300,134
Ensembl chr 7:110,296,206...110,300,160
G
Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
protein:increased expression:serum (human)
RGD
PMID:28465467
RGD:39939037
NCBI chr16:74,133,259...74,145,328
Ensembl chr16:74,133,259...74,145,328
G
Ifna2
interferon alpha 2
susceptibility
ISO
DNA:SNP:exon: p.Ala120Thr (human)
RGD
PMID:22610944
RGD:40886317
NCBI chr 5:108,374,363...108,374,941
Ensembl chr 5:108,374,363...108,374,941
G
Ifng
interferon gamma
ISO
protein:decreased expression:serum (human)
RGD
PMID:26684441 PMID:28465467
RGD:14974255 , RGD:39939037
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
G
Ifnl1
interferon, lambda 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:21957142
RGD:126848748
NCBI chr 1:92,926,184...92,927,830
G
Il12a
interleukin 12A
ISO
mRNA:increased expression:liver
RGD
PMID:26062743
RGD:11097839
NCBI chr 2:155,275,734...155,282,997
Ensembl chr 2:155,275,625...155,282,997
G
Il12b
interleukin 12B
susceptibility
ISO
DNA:SNP:3'utr: (rs3212227)
RGD
PMID:25469587
RGD:11074616
NCBI chr10:29,390,300...29,405,194
Ensembl chr10:29,389,905...29,405,194
G
Il18
interleukin 18
disease_progression
ISO
DNA:SNP:promoter:-607C>A(human)
RGD
PMID:27470888
RGD:14696663
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
G
Il1rl1
interleukin 1 receptor-like 1
severity
ISO
protein:increased expression:serum:
RGD
PMID:27180842 PMID:28381383
RGD:39457933 , RGD:39938857
NCBI chr 9:50,157,326...50,222,888
Ensembl chr 9:50,204,551...50,222,891
G
Il2
interleukin 2
susceptibility
ISO
DNA:polymorphism:promoter:-385T>G(human)
RGD
PMID:19105930
RGD:14747034
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672
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 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
G
Il33
interleukin 33
severity treatment
ISO
RGD
PMID:27180842 PMID:25714983
RGD:39457933 , RGD:39938954
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:237,115,572...237,150,901
G
Il4
interleukin 4
disease_progression treatment
ISO
DNA:SNP:promoter:-590C>T (human)
RGD
PMID:26281177 PMID:21331994
RGD:14696675 , RGD:14696697
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549
G
Itih4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
protein:increased expression:serum
RGD
PMID:24836184
RGD:40903002
NCBI chr16:6,086,985...6,102,162
Ensembl chr16:6,086,973...6,102,160
G
Jak1
Janus kinase 1
disease_progression
ISO
DNA:SNPs: :rs4244165, rs17127024 (human)
RGD
PMID:22901011
RGD:19165132
NCBI chr 5:120,895,606...121,004,207
Ensembl chr 5:120,896,046...120,996,758
G
Keap1
Kelch-like ECH-associated protein 1
ISO
mRNA:decreased expression:liver (human)
RGD
PMID:22459801
RGD:6892954
NCBI chr 8:28,044,555...28,054,042
Ensembl chr 8:28,044,555...28,054,042
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 4:164,828,163...164,838,446
Ensembl chr 4:164,828,163...164,838,464
G
Klrk1
killer cell lectin like receptor K1
susceptibility
ISO
DNA:SNP:intron 1:(rs2617160) (human)
RGD
PMID:20648603
RGD:39018553
NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:164,767,946...164,778,382
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 7:135,036,168...135,039,844
Ensembl chr 7:135,035,982...135,039,848 Ensembl chr10:135,035,982...135,039,848
G
Lepr
leptin receptor
ISO
mRNA:altered exression:PBMC,liver
RGD
PMID:17060687
RGD:21079470
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:121,474,099...121,591,215
G
Mbl2
mannose binding lectin 2
severity
ISO
DNA:haplotype: :
RGD
PMID:27824315
RGD:14696831
NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546
G
Mir106b
microRNA 106b
severity
IEP
associated with hepatocellular carcinoma;miRNA:increased expression:liver (human)
RGD
PMID:27298561
RGD:15042853
NCBI chr12:22,157,053...22,157,134
G
Mir146a
microRNA 146a
ISO
mRNA:increased expression:T cell (human)
RGD
PMID:23698745
RGD:126925146
NCBI chr10:28,349,996...28,350,090
G
Mir155
microRNA 155
ISO
RGD
PMID:30735455
RGD:21081537
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:37,261,114...37,261,178
G
Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:28871230
RGD:150340590
NCBI chr 5:137,259,288...137,281,540
Ensembl chr 5:137,259,288...137,272,177
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 1:78,657,409...78,665,255
Ensembl chr 1:78,659,262...78,703,273
G
Nfkbia
NFKB inhibitor alpha
disease_progression
ISO
DNA:enhancers: :(rs2233406, rs2233409) (human)
RGD
PMID:29093318
RGD:127285389
NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:78,593,847...78,597,072
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 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270
G
Ppp1r15a
protein phosphatase 1, regulatory subunit 15A
ISO
mRNA,protein:increased expression:liver
RGD
PMID:26234401
RGD:32716425
NCBI chr 1:105,136,521...105,139,596
Ensembl chr 1:105,136,525...105,139,774
G
Prdm1
PR/SET domain 1
disease_progression
ISO
RGD
PMID:31100710
RGD:150530465
NCBI chr20:49,542,465...49,564,088
Ensembl chr20:49,542,465...49,564,088
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 chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653
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 chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
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 chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165
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 chr20:4,762,425...4,772,439
Ensembl chr20:4,763,033...4,772,141
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 chr20:4,777,494...4,781,486
Ensembl chr20:4,776,547...4,781,574
G
Stat2
signal transducer and activator of transcription 2
ISO
mRNA:decreased expression:monocyte (human)
RGD
PMID:30842274
RGD:41789632
NCBI chr 7:1,287,025...1,302,858
Ensembl chr 7:1,287,024...1,303,459
G
Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
DNA:SNPs, haplotypes:multiple
RGD
PMID:25829184
RGD:25671420
NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346
G
Sting1
stimulator of interferon response cGAMP interactor 1
susceptibility
ISO
DNA:hypermethylation:promoter
RGD
PMID:30593207
RGD:39128221
NCBI chr18:27,606,196...27,612,544
Ensembl chr18:27,606,196...27,611,947
G
Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
mRNA:decreased expression:blood
RGD
PMID:21843574
RGD:6482248
NCBI chr20:4,658,171...4,668,543
Ensembl chr20:4,658,172...4,668,810
G
Tert
telomerase reverse transcriptase
susceptibility
ISO
DNA:SNP, haplotype: :rs10069690,rs2242652(human)
RGD
PMID:29507683
RGD:14696786
NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111
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 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899
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 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
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 chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
G
Tlr4
toll-like receptor 4
ISO
protein:increased expression:serum:
RGD
PMID:28414577
RGD:15090812
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
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 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148
G
Tnfaip3
TNF alpha induced protein 3
susceptibility
ISO
DNA:SNP,haplotypes: (rs148314165, rs200820567) (human)
RGD
PMID:28784141
RGD:151347613
NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:15,528,921...15,543,979
G
Tnfsf13b
TNF superfamily member 13b
treatment
ISO
RGD
PMID:30660173
RGD:27095888
NCBI chr16:86,164,377...86,195,072
Ensembl chr16:86,164,377...86,194,499
G
Ube2l3
ubiquitin-conjugating enzyme E2L 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24162738
NCBI chr11:97,300,584...97,343,084
Ensembl chr11:97,301,945...97,343,084
G
Zfhx3
zinc finger homeobox 3
ISO
protein:increased expression:blood serum (human)
RGD
PMID:20534899
RGD:151361169
NCBI chr19:52,789,146...53,795,664
Ensembl chr19:53,551,488...53,795,664
G
Abca1
ATP binding cassette subfamily A member 1
severity
ISO
DNA:SNP:introns:(rs3890182, rs1883025) (human)
RGD
PMID:28164591
RGD:21066337
NCBI chr 5:72,473,676...72,596,563
Ensembl chr 5:72,473,676...72,596,473
G
Abcb11
ATP binding cassette subfamily B member 11
susceptibility treatment disease_progression
ISO
DNA:SNP:cds:1331T>C, p.V444A,(rs2287622)(human) DNA:SNP:cds:c.1331T>C (rs2287622)(human)
RGD
PMID:29755014 PMID:29091211 PMID:22681771
RGD:14402415 , RGD:14402417 , RGD:14402416
NCBI chr 3:74,424,620...74,520,646
Ensembl chr 3:74,424,979...74,520,581
G
Abcb1a
ATP binding cassette subfamily B member 1A
susceptibility treatment
ISO
DNA:SNP::2677G>T/A(rs2032582)(human) DNA:SNP: :3435C>T(human)
RGD
PMID:26922556 PMID:29155127
RGD:11574565 , RGD:14700907
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:26,312,409...26,397,135
G
Ace
angiotensin I converting enzyme
treatment
ISO IEP
protein:decreased expression:serum (human)
RGD
PMID:29641775 PMID:17106926 PMID:27147779
RGD:25671451 , RGD:40400711 , RGD:25671456
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942
G
Adar
adenosine deaminase, RNA-specific
no_association disease_progression treatment
ISO
DNA:SNP:exon: (rs1127309) (human) associated with human immunodeficiency virus infectious disease;DNA:missense mutation:exon 2, 3' utr:p.K384R (rs2229857, rs1127326) (human) DNA:silent mutation:CDS:p.V849V (rs1127309) (human) DNA:snps, haplotype: (rs7515339, rs903323) (human)
RGD
PMID:26911666 PMID:29906476 PMID:19434718 PMID:17979507
RGD:11554370 , RGD:125097514 , RGD:125097513 , RGD:38599150
NCBI chr 2:177,436,076...177,475,969
Ensembl chr 2:177,436,094...177,475,971
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum
RGD
PMID:26293833
RGD:14401718
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:91,226,180...91,240,169
G
Aicda
activation-induced cytidine deaminase
disease_progression
ISO
mRNA:increased expression:B cell mRNA, protein:increased expression:B cell, CD19-positive (human) mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26219420 PMID:20189883 PMID:26946048
RGD:30296664 , RGD:32716380 , RGD:32716369
NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:157,444,697...157,456,356
G
Ang
angiogenin
ISO
RGD
PMID:21848603
RGD:6892709
NCBI chr15:26,786,233...26,796,883
Ensembl chr15:26,786,065...26,801,106
G
Apoe
apolipoprotein E
severity
ISO
DNA:polymorphism:exon:
RGD
PMID:12143056
RGD:7495764
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855
G
Aurka
aurora kinase A
ISO
mRNA:increased expression:CD19+Bcell:
RGD
PMID:20189883
RGD:32716380
NCBI chr 3:181,546,742...181,562,890
Ensembl chr 3:181,546,742...181,562,771
G
Ccl2
C-C motif chemokine ligand 2
ISO
RNA:increased expression:liver:
RGD
PMID:24429361
RGD:14975280
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
G
Ccl5
C-C motif chemokine ligand 5
severity treatment disease_progression
ISO
DNA:polymorphism:promoter:-403G>A(human) DNA:SNPs,haplotype: : mRNA:increased expression:liver: DNA:SNP: :rs3817656(human)
RGD
PMID:12557141 PMID:15368437 PMID:15770052 PMID:29703961
RGD:14995332 , RGD:14995340 , RGD:14995336 , RGD:14995334
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,738,651...68,824,884
G
Ccnd1
cyclin D1
ISO
mRNA:increased expression:CD19+Bcell:
RGD
PMID:20189883
RGD:32716380
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:209,518,288...209,527,810
G
Ccnd2
cyclin D2
ISO
mRNA:increased expression:CD19+Bcell:
RGD
PMID:20189883
RGD:32716380
NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:161,653,048...161,680,301 Ensembl chr 4:161,653,048...161,680,301
G
Ccr5
C-C motif chemokine receptor 5
disease_progression treatment
ISO
DNA:deletion:cds:
RGD
PMID:12055576 PMID:12873822
RGD:14401729 , RGD:14401737
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
G
Cd163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:26554542
RGD:149735574
NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:158,770,749...158,804,146
G
Cd209d
CD209d molecule
ISO
DNA:SNPs,haplotypes:promoter: -939G>A, -871A>G (human)
RGD
PMID:27348632
RGD:39939007
NCBI chr12:6,689,002...6,695,452
Ensembl chr12:6,689,002...6,698,976
G
Cd226
CD226 molecule
treatment
ISO
RGD
PMID:21695691
RGD:40818295
NCBI chr18:84,723,330...84,819,836
Ensembl chr18:84,725,242...84,819,835
G
Cd274
CD274 molecule
ISO
protein:increased expression:peripheral blood mononuclear cell
RGD
PMID:18086898
RGD:41410796
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
G
Cldn1
claudin 1
susceptibility
ISO IEP
associated with intravenous substance abuse;DNA:SNP:promoter, intron:multiple mutations mRNA:decreased expression:liver (human)
RGD
PMID:19674288 PMID:21412800
RGD:25330352 , RGD:26884350
NCBI chr11:87,926,376...87,941,533
Ensembl chr11:87,926,337...87,941,529
G
Clec4m
C-type lectin domain family 4 member M
disease_progression
ISO
DNA:polymorphism,repeats:exon4: allele 4 (human)
RGD
PMID:24283933
RGD:41410818
NCBI chr12:6,713,795...6,722,414
Ensembl chr12:6,713,812...6,722,410
G
Cpt1a
carnitine palmitoyltransferase 1A
ISO
mRNA, protein:decreased expression:liver hepatocytes (human)
RGD
PMID:15685545
RGD:5683635
NCBI chr 1:209,993,881...210,056,329
Ensembl chr 1:209,993,875...210,056,326
G
Crp
C-reactive protein
ISO
RGD
PMID:22333691
RGD:6482311
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
treatment
ISO
DNA:SNP,haplotype:exon,promoter:49A>G,-318 T>C(human)
RGD
PMID:12696006
RGD:14398739
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:serum
RGD
PMID:31127759
RGD:27095949
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261
G
Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
severity
ISO
DNA:polymorphism:promoter: 1260C>A (rs10877012) (human)
RGD
PMID:21145801
RGD:25671413
NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570
G
Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
ISO
protein:increased expression:serum:
RGD
PMID:10435724
RGD:11353781
NCBI chr 7:115,762,662...115,771,832
Ensembl chr 7:115,761,696...115,771,837
G
Foxp3
forkhead box P3
ISO
RGD
PMID:18673437
RGD:38548921
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:17,580,380...17,595,894
G
Ggt1
gamma-glutamyltransferase 1
severity
ISO
RGD
PMID:10934805
RGD:14747019
NCBI chr20:13,074,141...13,103,551
Ensembl chr20:13,074,141...13,088,050
G
Gpt
glutamic--pyruvic transaminase
ISO
protein:increased activity:plasma
RGD
PMID:22922605
RGD:14975251
NCBI chr 7:110,295,599...110,300,134
Ensembl chr 7:110,296,206...110,300,160
G
Gpt2
glutamic--pyruvic transaminase 2
ISO
protein:increased activity:plasma
RGD
PMID:22922605
RGD:14975251
NCBI chr19:37,700,023...37,734,551
Ensembl chr19:37,691,901...37,733,917
G
Gstm1
glutathione S-transferase mu 1
ISO
RGD
PMID:17397002
RGD:14700966
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569
G
Gstt1
glutathione S-transferase theta 1
ISO
RGD
PMID:17397002
RGD:14700966
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019
G
Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
mRNA, protein:increased expression, increased activity:monocytes,myeloid dendritic cells,serum (human)
RGD
PMID:25605587
RGD:39939081
NCBI chr16:74,133,259...74,145,328
Ensembl chr16:74,133,259...74,145,328
G
Ifna2
interferon alpha 2
treatment
ISO
associated with end stage renal disease
RGD
PMID:9187562 PMID:7493300 PMID:19152412 PMID:21272456 PMID:8868074 PMID:17881538 PMID:9310930 More...
RGD:40886308 , RGD:40886318 , RGD:40886316 , RGD:40886314 , RGD:40886313 , RGD:40886311 , RGD:40886310
NCBI chr 5:108,374,363...108,374,941
Ensembl chr 5:108,374,363...108,374,941
G
Ifnl1
interferon, lambda 1
ameliorates
ISO
protein:increased expression:blood serum (human) mRNA,protein:increased expression:liver, blood serum (human) protein:altered expression:blood serum (human)
RGD
PMID:30926417 PMID:23071503 PMID:21145813
RGD:126848741 , RGD:126848749 , RGD:126848747
NCBI chr 1:92,926,184...92,927,830
G
Ifnl3
interferon, lambda 3
treatment disease_progression susceptibility
ISO
DNA:SNP: :rs8099917 (human) DNA:SNP:enhancer: (rs8099917) (human) DNA:SNP,haplotype:enhancer: (rs12979860,rs8099917) (human) DNA:SNP:enhancer: (rs12979860) (human) DNA:SNP:enhancer: (rs12979860,rs8099917) (human) DNA:SNP:5'utr: (rs12979860) (human) DNA:SNPs:3'utr, enhancer: (rs12980275, rs12979860) (human) DNA:SNP:3' utr: (rs4803217) (human) associated with Hemoglobinopathies;DNA:missense mutation, enhancer, haplotype:cds, :p.K70R, (rs12979860) (human)
RGD
PMID:23730840 PMID:24355007 PMID:24646752 PMID:28186161 PMID:26741362 PMID:24376784 PMID:27027531 PMID:25283962 PMID:28739427 PMID:25788203 PMID:28638221 PMID:21615377 More...
RGD:10766476 , RGD:11096670 , RGD:40886292 , RGD:40886290 , RGD:11344289 , RGD:40886281 , RGD:40886277 , RGD:40822824 , RGD:40400891 , RGD:14398733 , RGD:14398740 , RGD:11528556
NCBI chr 1:92,941,988...92,943,628
G
Igf2
insulin-like growth factor 2
severity
ISO
DNA:SNPs, haplotype:multiple
RGD
PMID:16750516
RGD:14401723
NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:207,243,873...207,260,667
G
Il10
interleukin 10
treatment no_association susceptibility
ISO
protein:increased expression:serum: DNA:SNP:promoter: rs3021094, rs3024498 (human) DNA:SNP:promoter:-592C>A (rs1800872) (human) DNA:polymorphism:promoter:
RGD
PMID:26095186 PMID:25708446 PMID:29247709 PMID:29247709 PMID:26095186
RGD:14700655 , RGD:38456002 , RGD:14975141 , RGD:14975141 , RGD:14700655
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Il12b
interleukin 12B
severity
ISO
DNA:SNP:3' utr:+1188A>C (human)
RGD
PMID:15871664
RGD:14401721
NCBI chr10:29,390,300...29,405,194
Ensembl chr10:29,389,905...29,405,194
G
Il17d
interleukin 17D
severity
ISO
associated with human immunodeficiency virus infectious disease;mRNA:increased expression:blood plasma (human)
RGD
PMID:27875997
RGD:40903073
NCBI chr15:35,786,898...35,804,391
Ensembl chr15:35,786,898...35,804,391
G
Il18
interleukin 18
treatment disease_progression
ISO
DNA:SNP:promoter:-607C>A (rs1946518)(human)
RGD
PMID:25198668 PMID:19740312
RGD:14696651 , RGD:14696656
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
G
Il2
interleukin 2
treatment
ISO
RGD
PMID:12673448
RGD:14807336
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672
G
Il21
interleukin 21
ameliorates
ISO
protein:increased expression:liver, blood, CD4-positive, alpha-beta T cell (human)
RGD
PMID:24170093
RGD:127285373
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
G
Il27
interleukin 27
ameliorates
ISO
DNA:SNP:promoter:-964A>G (rs153109) (human)
RGD
PMID:27221901
RGD:126790538
NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:190,603,522...190,609,258
G
Il4
interleukin 4
treatment
ISO
DNA:SNPs:promoter:-590C>T,-33T>C (human) associated with factor VIII deficiency;protein:increased expression:serum:
RGD
PMID:22594992 PMID:25708446 PMID:23591975
RGD:14696678 , RGD:38456002 , RGD:14696686
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549
G
Il6
interleukin 6
treatment
ISO
DNA:SNPs:promoter:rs1800795 (human)
RGD
PMID:27812403
RGD:14975294
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
G
Isg15
ISG15 ubiquitin-like modifier
treatment
ISO
RGD
PMID:28036111
RGD:40400915
NCBI chr 5:172,066,369...172,067,656
Ensembl chr 5:172,066,369...172,067,656
G
Itgb6
integrin subunit beta 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18221819
NCBI chr 3:65,454,964...65,579,179
Ensembl chr 3:65,456,713...65,530,333
G
Kir3dl1
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
severity
ISO
protein:decreased expression:peripheral blood mono-nuclear cell, natural killer cell (human)
RGD
PMID:19470388 PMID:27239111
RGD:38676473 , RGD:38676476
NCBI chr 1:78,756,035...78,796,961
Ensembl chr 1:78,757,394...78,796,715
G
Klrc1
killer cell lectin like receptor C1
treatment
ISO
protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:16322112 PMID:31218578 PMID:20550548
RGD:40818296 , RGD:40400920 , RGD:40818079
NCBI chr 4:164,828,163...164,838,446
Ensembl chr 4:164,828,163...164,838,464
G
Klrk1
killer cell lectin like receptor K1
treatment disease_progression
ISO
protein:decreased expression:liver,natural killer cell (human) protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD
PMID:25965701 PMID:25148254 PMID:21168454
RGD:39018562 , RGD:40813739 , RGD:40400738
NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:164,767,946...164,778,382
G
Krt18
keratin 18
disease_progression severity
ISO
protein:increased expression:serum (human) protein:increased expression:liver, serum (human) protein:increased degradation:serum (human)
RGD
PMID:30839434 PMID:23820504 PMID:22404726 PMID:19333204
RGD:18337481 , RGD:18337500 , RGD:18337496 , RGD:18337493
NCBI chr 7:135,036,168...135,039,844
Ensembl chr 7:135,035,982...135,039,848 Ensembl chr10:135,035,982...135,039,848
G
Krt8
keratin 8
ISO
protein:increased phosphorylation:liver (human)
RGD
PMID:15368451
RGD:14401583
NCBI chr 7:135,002,886...135,010,339
Ensembl chr 7:135,002,894...135,010,403
G
Lep
leptin
IEP
protein:altered localization:serum (human)
RGD
PMID:11336170
RGD:21201249
NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:58,626,523...58,640,661
G
Lepr
leptin receptor
ISO
mRNA:altered exression:PBMC,liver
RGD
PMID:17060687
RGD:21079470
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:121,474,099...121,591,215
G
Lgals3
galectin 3
ISO
mRNA:increased expression:CD19+Bcell:
RGD
PMID:20189883
RGD:32716380
NCBI chr15:23,099,795...23,111,731
Ensembl chr15:23,086,841...23,111,737
G
Mbl2
mannose binding lectin 2
treatment
ISO
DNA:SNPs:promoter,exon: DNA:haplotype:promoter, exon:
RGD
PMID:18336595 PMID:25956563
RGD:14696820 , RGD:11076743
NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546
G
Mir107
microRNA 107
ISO
RNA:decreased expression:liver:
RGD
PMID:24429361
RGD:14975280
NCBI chr 1:241,750,418...241,750,504
G
Mir122
microRNA 122
ISO
miRNA:increased expression:serum
RGD
PMID:24895202
RGD:14401602
NCBI chr18:61,028,817...61,028,901
G
Mir146a
microRNA 146a
ISO
miRNA:increased expression:liver (human) miRNA:increased expression:peripheral blood mononuclear cell (mouse)
RGD
PMID:27147737 PMID:25877355
RGD:126925147 , RGD:126925186
NCBI chr10:28,349,996...28,350,090
G
Mir155
microRNA 155
ISO
miRNA:increased expression:serum associated with rheumatoid arthritis
RGD
PMID:30852102 PMID:29575671
RGD:21079478 , RGD:21403686
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:37,261,114...37,261,178
G
Mir223
microRNA 223
treatment
ISO
RGD
PMID:28864162
RGD:21408567
NCBI chr X:65,151,383...65,151,492
Ensembl chr X:65,151,383...65,151,492
G
Mx1
MX dynamin like GTPase 1
treatment exacerbates
IEP ISO
DNA:SNPs:promoter:g.-123C>A, -88G>T(human) DNA:SNPs:promoter: (rs2071430, rs17000900) (human)
RGD
PMID:28036111 PMID:25239021 PMID:29271328
RGD:40400915 , RGD:11067846 , RGD:126777679
NCBI chr11:50,269,056...50,294,699
Ensembl chr11:50,269,057...50,292,904
G
Ncr1
natural cytotoxicity triggering receptor 1
treatment disease_progression
ISO
protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human) protein:decreased expression:liver, natural killer cell (human)
RGD
PMID:31218578 PMID:23813131 PMID:16322112 PMID:21695691 PMID:20550548 PMID:25148254 PMID:21168454 More...
RGD:40400920 , RGD:40818297 , RGD:40818296 , RGD:40818295 , RGD:40818079 , RGD:40813739 , RGD:40400738
NCBI chr 1:78,657,409...78,665,255
Ensembl chr 1:78,659,262...78,703,273
G
Ncr3
natural cytotoxicity triggering receptor 3
disease_progression treatment
ISO
protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:21168454 PMID:23813131 PMID:16322112 PMID:21695691 PMID:20550548
RGD:40400738 , RGD:40818297 , RGD:40818296 , RGD:40818295 , RGD:40818079
NCBI chr20:3,642,912...3,648,425
Ensembl chr20:3,642,912...3,644,188
G
Nfkb1
nuclear factor kappa B subunit 1
disease_progression
ISO
DNA:insertion:promoter: -94insATTG (rs28362491) (human)
RGD
PMID:26827631
RGD:11572306
NCBI chr 2:226,689,745...226,805,897
Ensembl chr 2:226,689,745...226,783,088
G
Plau
plasminogen activator, urokinase
ISO
RGD
PMID:19628656
RGD:6483809
NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,505,487...3,512,030
G
Ppara
peroxisome proliferator activated receptor alpha
ISO IEP
mRNA, protein:decreased expression:liver hepatocytes (human) associated with liver cirrhosis;mRNA, protein:decreased expression:liver (human)
RGD
PMID:15685545 PMID:15685545
RGD:5683635 , RGD:5683635
NCBI chr 7:118,712,261...118,780,723
Ensembl chr 7:118,712,412...118,780,714
G
Prdx5
peroxiredoxin 5
ISO
mRNA:decreased expression:liver, blood (human)
RGD
PMID:32103340
RGD:41404682
NCBI chr 1:213,529,042...213,532,787
Ensembl chr 1:213,529,035...213,533,020
G
Prf1
perforin 1
disease_progression
ISO
protein:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:25148254
RGD:40813739
NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,788,972...29,795,124
G
RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:polymorphism: :HLA DQA1*03(human) DNA:polymorphism:haplotype:
RGD
PMID:8938158 PMID:9537846
RGD:14398842 , RGD:14401559
NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653
G
RT1-Bb
RT1 class II, locus Bb
disease_progression
ISO
DNA:polymorphism:cds:HLA-DQB1*02 (human)
RGD
PMID:17489060
RGD:36174022
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
G
RT1-Db1
RT1 class II, locus Db1
disease_progression
ISO
DNA:polymorphism (human) DNA:polymorphisms:cds:HLA-DRB1*030101, DRB1*0701(human)
RGD
PMID:18925312 PMID:17489060
RGD:5147618 , RGD:36174022
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165
G
RT1-Ha
RT1 class II, locus Ha
disease_progression
ISO
DNA:SNP, haplotype: :rs3077, rs9277534(human)
RGD
PMID:24897020
RGD:14694819
NCBI chr20:4,762,425...4,772,439
Ensembl chr20:4,763,033...4,772,141
G
RT1-Hb-ps1
RT1 class II, locus Hb, pseudogene 1
ameliorates
ISO
mRNA:increased expression:peripheral blood mononuclear cell(human) DNA:polymorphism: :HLA-DPB1*04:01 (human)
RGD
PMID:27601657 PMID:28332201
RGD:150429796 RGD:150429805
NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,776,547...4,781,574
G
Slc11a1
solute carrier family 11 member 1
disease_progression
ISO
DNA:polymorphisms, haplotype:promoter (human)
RGD
PMID:14960532
RGD:5684961
NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:83,406,427...83,417,238
G
Slc6a4
solute carrier family 6 member 4
susceptibility
ISO
associated with alexithymia;DNA:haplotypes, multiple:
RGD
PMID:26609890
RGD:11352995
NCBI chr10:62,322,688...62,357,060
Ensembl chr10:62,324,254...62,357,056
G
Smad4
SMAD family member 4
ISO
protein:increased expression:liver:
RGD
PMID:29924446
RGD:21066342
NCBI chr18:69,518,988...69,549,684
Ensembl chr18:69,518,988...69,549,684
G
Spp1
secreted phosphoprotein 1
treatment
ISO
DNA:SNPs:promoter:-443C>T, -1748G>A (human)
RGD
PMID:15868370
RGD:1581374
NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,613,576...5,619,820
G
Stat3
signal transducer and activator of transcription 3
severity
ISO
RGD
PMID:17318196
RGD:8694293
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:86,311,535...86,363,359
G
Tlr3
toll-like receptor 3
treatment severity disease_progression susceptibility
ISO
DNA:SNP:cds:p.Leu412Phe(human) DNA:SNP: :rs13126816 (human) DNA:SNP: :rs3775290(human) treatment:peginterferon plus ribavirin.
RGD
PMID:23240626 PMID:28480979 PMID:23220997 PMID:29860675 PMID:30321082 PMID:19674283 More...
RGD:21079422 , RGD:21079435 , RGD:21079430 , RGD:21079428 , RGD:21079427 , RGD:21079423
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
G
Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:SNP: :rs2148356(human) protein:increased expression:serum:
RGD
PMID:26095186 PMID:26095186
RGD:14700655 , RGD:14700655
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
G
Tlr9
toll-like receptor 9
severity
ISO
mRNA, protein:decreased expression:peripheral blood mononuclear cell (human) protein:increased expression:liver, peripheral blood mononuclear cell (human)
RGD
PMID:19513613 PMID:23026026
RGD:18337470 , RGD:18337477
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148
G
Tnf
tumor necrosis factor
treatment severity
ISO
protein:increased expression:serum (human) protein:increased expression:plasma (human)
RGD
PMID:9047083 PMID:25708446 PMID:9440625
RGD:14995307 , RGD:38456002 , RGD:14995439
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Tnfrsf1a
TNF receptor superfamily member 1A
treatment
ISO
RGD
PMID:21152182
RGD:8661764
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816
G
Usp18
ubiquitin specific peptidase 18
treatment
ISO
RGD
PMID:28036111
RGD:40400915
NCBI chr 4:156,143,770...156,171,292
Ensembl chr 4:156,143,815...156,171,292
G
Vdr
vitamin D receptor
treatment no_association
ISO
DNA:polymorphism: :
RGD
PMID:27263300 PMID:26725771
RGD:14401746 , RGD:14401749
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757
G
Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:missense mutation:cds:p.R194W, p.R280H, p.R399Q (human)
RGD
PMID:29935355
RGD:15036797
NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:89,268,644...89,296,613
G
Zc3h12a
zinc finger CCCH type containing 12A
severity
ISO
protein:increased expression:liver (human)
RGD
PMID:21739451 PMID:25225661
RGD:39938976 , RGD:39938960
NCBI chr 5:142,661,193...142,670,051
Ensembl chr 5:142,661,199...142,669,985
G
Clec7a
C-type lectin domain containing 7A
ISO
ClinVar Annotator: match by term: Candidiasis familial chronic mucocutaneous, autosomal recessive
ClinVar
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868
NCBI chr 4:164,588,737...164,599,953
Ensembl chr 4:164,588,754...164,599,919
G
Il17ra
interleukin 17 receptor A
ISO
ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis | ClinVar Annotator: match by term: Familial Candidiasis, Recessive
ClinVar
PMID:16670328 PMID:18802100 PMID:21178015 PMID:21350122 PMID:24033266 PMID:25741868 PMID:27930337 PMID:28492532 More...
NCBI chr 4:155,339,742...155,362,382
Ensembl chr 4:155,339,400...155,362,382
G
Mapk8
mitogen-activated protein kinase 8
ISO
associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human)
RGD
PMID:31784499
RGD:150340677
NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,645,198...8,728,427
G
Stat1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis
CTD ClinVar
PMID:21714643 PMID:21727188 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24343863 PMID:25741868 PMID:26255980 PMID:26494717 PMID:26604104 PMID:28161409 PMID:28427548 PMID:28492532 PMID:28815025 More...
NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:56,911,523...57,077,346
G
Alox5
arachidonate 5-lipoxygenase
ISO
protein:increased expression:bronchus
RGD
PMID:11865407
RGD:4890421
NCBI chr 4:151,203,948...151,251,126
Ensembl chr 4:151,203,949...151,251,126
G
Alox5ap
arachidonate 5-lipoxygenase activating protein
ISO
protein:increased expression:bronchus
RGD
PMID:11865407
RGD:4890421
NCBI chr12:10,785,254...10,809,295
Ensembl chr12:10,785,257...10,817,038
G
Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:20696083
RGD:4140458
NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,233,329...10,242,999
G
Cxcl1
C-X-C motif chemokine ligand 1
ISO
associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:respiratory epithelial cell
RGD
PMID:20395558
RGD:4145446
NCBI chr14:17,477,542...17,479,321
Ensembl chr14:17,477,549...17,479,811
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:15764644
RGD:5135489
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261
G
Cxcl3
C-X-C motif chemokine ligand 3
ISO
associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:respiratory epithelial cell
RGD
PMID:20395558
RGD:4145446
NCBI chr14:17,571,900...17,573,624
Ensembl chr14:17,571,900...17,573,624
G
Cxcl6
C-X-C motif chemokine ligand 6
ISO
associated with Asthma
RGD
PMID:12751040
RGD:5135264
NCBI chr14:17,594,959...17,596,417
Ensembl chr14:17,594,959...17,596,417
G
Cxcr2
C-X-C motif chemokine receptor 2
ISO
RGD
PMID:19864593
RGD:5131210
NCBI chr 9:83,178,645...83,185,017
Ensembl chr 9:83,183,808...83,188,602
G
Defb4
defensin beta 4
ISO
mRNA, protein:increased expression:nasal cavity epithelium, nasal mucus
RGD
PMID:15034083
RGD:4892264
NCBI chr16:77,352,911...77,356,104
Ensembl chr16:77,352,911...77,356,104
G
Defb5
defensin beta 5
ISO
mRNA, protein:increased expression:nasal cavity epithelium, nasal mucus
RGD
PMID:15034083
RGD:4892264
NCBI chr16:77,315,424...77,317,828
Ensembl chr16:77,315,424...77,317,828
G
Ifna2
interferon alpha 2
treatment
ISO
RGD
PMID:6381610
RGD:40886344
NCBI chr 5:108,374,363...108,374,941
Ensembl chr 5:108,374,363...108,374,941
G
Il10
interleukin 10
ISO
RGD
PMID:20696083
RGD:4140458
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Il1a
interleukin 1 alpha
ISO
protein:increased expression:nasal mucus
RGD
PMID:10358201
RGD:4143183
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013
G
Il1b
interleukin 1 beta
ISO
protein:increased expression:nasal mucus
RGD
PMID:7734976
RGD:7401200
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
G
Il1rn
interleukin 1 receptor antagonist
ISO
protein:increased expression:nasal mucus
RGD
PMID:18279051 PMID:10358201
RGD:4143207 , RGD:4143183
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732
G
Il33
interleukin 33
ISO
protein:increased expression:nasal mucus
RGD
PMID:28471975
RGD:38596342
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:237,115,572...237,150,901
G
Il4
interleukin 4
ISO
associated with Asthma;mRNA, protein:increased expression:alveolar macrophage, respiratory system fluid/secretion
RGD
PMID:20644177
RGD:4140459
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549
G
Prdx5
peroxiredoxin 5
ISO
associated with asthma;protein:increased expression:sputum (human)
RGD
PMID:18219526
RGD:41404684
NCBI chr 1:213,529,042...213,532,787
Ensembl chr 1:213,529,035...213,533,020
G
Tslp
thymic stromal lymphopoietin
ISO
protein:increased expression:nasal mucus (human)
RGD
PMID:28471975
RGD:38596342
NCBI chr18:24,723,990...24,728,419
Ensembl chr18:24,720,257...24,728,420
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphism: :HLA-DQB1*0301
RGD
PMID:15257408
RGD:36049812
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
G
Ccl2
C-C motif chemokine ligand 2
ISO
ClinVar Annotator: match by term: Coronary artery disease, development of, in HIV
ClinVar
PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 PMID:25741868 More...
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
G
Klrk1
killer cell lectin like receptor K1
ISO
RGD
PMID:18094157
RGD:38676499
NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:164,767,946...164,778,382
G
Ace
angiotensin I converting enzyme
ISO
Severe Acute Respiratory Syndrome
RGD
PMID:17108019
RGD:4140930
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942
G
Ace2
angiotensin converting enzyme 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14647384 PMID:16007097 PMID:19453650 PMID:19625462 PMID:22496216 PMID:23678171 PMID:24172901 PMID:24227843 PMID:25187545 More...
NCBI chr X:33,925,458...33,972,851
Ensembl chr X:33,925,458...33,971,596
G
Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20484496
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
G
Ccl3
C-C motif chemokine ligand 3
ISO
RGD
PMID:19906920
RGD:4891446
NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,948,889...68,950,439
G
Ccr1
C-C motif chemokine receptor 1
ISS
MouseDO
NCBI chr 8:132,433,711...132,439,266
Ensembl chr 8:132,431,592...132,439,374
G
Ccr2
C-C motif chemokine receptor 2
ISS
MouseDO
NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:132,611,410...132,620,059
G
Ccr5
C-C motif chemokine receptor 5
ISO ISS
Respiratory Syndrome, Severe Acute; mRNA:increased expression:lung (mouse)
MouseDO RGD
PMID:19906920 PMID:11543653
RGD:4891446 , RGD:14401732
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
G
Cd209c
CD209c molecule
ISO
RGD
PMID:20864747
RGD:5131184
NCBI chr12:6,732,890...6,741,757
Ensembl chr12:6,733,287...6,741,808
G
Cd209d
CD209d molecule
ISO
RGD
PMID:20864747
RGD:5131184
NCBI chr12:6,689,002...6,695,452
Ensembl chr12:6,689,002...6,698,976
G
Ctsl
cathepsin L
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081529 PMID:23678171 PMID:27733646
NCBI chr17:770,104...776,266
Ensembl chr17:770,093...777,113
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:19626487 PMID:19906920
RGD:27095957 , RGD:4891446
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261
G
Cxcl2
C-X-C motif chemokine ligand 2
IEP
RGD
PMID:17804032
RGD:5135236
NCBI chr14:17,465,210...17,467,255
Ensembl chr14:17,465,242...17,467,255
G
Cxcl3
C-X-C motif chemokine ligand 3
IEP
RGD
PMID:17804032
RGD:5135236
NCBI chr14:17,571,900...17,573,624
Ensembl chr14:17,571,900...17,573,624
G
Dpp4
dipeptidylpeptidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30626688
NCBI chr 3:67,370,794...67,452,422
Ensembl chr 3:67,370,804...67,452,422
G
Egfr
epidermal growth factor receptor
ISS
MouseDO
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:95,378,626...95,551,358
G
Ifnb1
interferon beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24323636
NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:108,066,650...108,067,487
G
Ifng
interferon gamma
ISO
RGD
PMID:19906920
RGD:4891446
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
G
Il10
interleukin 10
ISO
RGD
PMID:28493345
RGD:14975163
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Il2
interleukin 2
ISO
RGD
PMID:19906920
RGD:4891446
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672
G
Il5
interleukin 5
ISO
RGD
PMID:19906920
RGD:4891446
NCBI chr10:38,375,132...38,378,003
Ensembl chr10:38,375,132...38,378,003
G
Il6
interleukin 6
ISO
Severe Acute Respiratory Syndrome;protein:increased expression:lung
RGD
PMID:19906920
RGD:4891446
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
G
Mapk1
mitogen activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20484496
NCBI chr11:97,462,025...97,529,193
Ensembl chr11:97,462,025...97,527,825
G
Mapk3
mitogen activated protein kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20484496
NCBI chr 1:190,797,189...190,803,411
Ensembl chr 1:190,797,185...190,803,411
G
Mbl2
mannose binding lectin 2
ISO
Severe Acute Respiratory Syndrome; DNA:mutations:5' utr, exon:g.-221G>C, p.G54N (human)
RGD
PMID:15838797
RGD:4889467
NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546
G
Muc4
mucin 4, cell surface associated
ISS
MouseDO
NCBI chr11:81,513,321...81,575,200
G
Myd88
MYD88, innate immune signal transduction adaptor
ISS
MouseDO
NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:127,952,161...127,956,230
G
Pi4kb
phosphatidylinositol 4-kinase beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22253445
NCBI chr 2:185,229,392...185,261,697
Ensembl chr 2:185,228,799...185,261,693
G
Ppp1r14c
protein phosphatase 1, regulatory (inhibitor) subunit 14c
ISS
MouseDO
NCBI chr 1:42,177,977...42,358,654
Ensembl chr 1:42,179,523...42,376,419
G
Serpine1
serpin family E member 1
ISS
MouseDO
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357
G
Sftpd
surfactant protein D
IEP
Severe Acute Respiratory Syndrome;protein:increased expression:lung
RGD
PMID:19741068
RGD:4143520
NCBI chr16:17,080,575...17,093,047
Ensembl chr16:17,080,567...17,094,036
G
Ticam2
TIR domain containing adaptor molecule 2
ISS
MouseDO
NCBI chr18:41,481,057...41,498,065
Ensembl chr18:41,478,539...41,512,243
G
Tmprss11d
transmembrane serine protease 11D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24227843
NCBI chr14:22,062,129...22,124,189
Ensembl chr14:22,062,131...22,124,505
G
Tnf
tumor necrosis factor
ISO
RGD
PMID:19906920
RGD:4891446
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
A2m
alpha-2-macroglobulin
severity
ISO
DNA:SNPs: : mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226 PMID:32747830
RGD:28912744 , RGD:38500238
NCBI chr 4:156,570,163...156,619,870
Ensembl chr 4:156,569,860...156,619,868
G
Abcb1a
ATP binding cassette subfamily B member 1A
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:26,312,409...26,397,135
G
Abcd1
ATP binding cassette subfamily D member 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr X:156,579,669...156,601,448
Ensembl chr X:156,579,785...156,601,446
G
Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
susceptibility
ISO
DNA:polymorphism:cds:allele A, allele O (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:32558485 PMID:32379894
RGD:35668862
NCBI chr 3:30,560,172...30,604,758
G
Accs
1-aminocyclopropane-1-carboxylate synthase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:100,261,940...100,276,400
Ensembl chr 3:100,261,941...100,296,514
G
Ace
angiotensin I converting enzyme
severity no_association
ISO
DNA:insertion/deletion:intron 16:
RGD
PMID:32286246 PMID:32386188
RGD:30309199 , RGD:30309201
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942
G
Ace2
angiotensin converting enzyme 2
severity
ISO ISS
human gene in a mouse model CTD Direct Evidence: marker/mechanism|therapeutic DNA:insertion/deletion:intron 16:
MouseDO CTD RGD
PMID:31996437 PMID:32061198 PMID:32081428 PMID:32092392 PMID:32117569 PMID:32129518 PMID:32132184 PMID:32133153 PMID:32142651 PMID:32149769 PMID:32201080 PMID:32203189 PMID:32275855 PMID:32286790 PMID:32404436 PMID:32380511 PMID:34668775 PMID:34668780 PMID:32220422 More...
RGD:30310239 , RGD:151347433 , RGD:151347432 , RGD:32716393
NCBI chr X:33,925,458...33,972,851
Ensembl chr X:33,925,458...33,971,596
G
Aco2
aconitase 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:115,265,816...115,308,931
Ensembl chr 7:115,265,791...115,308,892
G
Acvr1b
activin A receptor type 1B
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:134,164,987...134,208,389
Ensembl chr 7:134,164,991...134,208,388
G
Acvrl1
activin A receptor like type 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:134,117,917...134,135,306
Ensembl chr 7:134,118,024...134,135,305
G
Adam15
ADAM metallopeptidase domain 15
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:177,052,363...177,062,879
Ensembl chr 2:177,052,363...177,062,849
G
Adam9
ADAM metallopeptidase domain 9
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr16:73,725,186...73,804,284
Ensembl chr16:73,725,114...73,804,646
G
Adamts1
ADAM metallopeptidase with thrombospondin type 1 motif, 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:38,418,565...38,427,384
Ensembl chr11:38,418,101...38,427,390
G
Adamts2
ADAM metallopeptidase with thrombospondin type 1 motif, 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:35,422,030...35,627,483
Ensembl chr10:35,422,030...35,627,483
G
Adap2
ArfGAP with dual PH domains 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:65,635,891...65,665,019
Ensembl chr10:65,622,434...65,664,022
G
Adgrb2
adhesion G protein-coupled receptor B2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:147,581,573...147,646,726
Ensembl chr 5:147,611,580...147,646,726
G
Adm
adrenomedullin
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 1:174,164,178...174,182,372
Ensembl chr 1:174,178,773...174,182,371
G
Adora3
adenosine A3 receptor
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:196,077,042...196,080,686
Ensembl chr 2:196,077,042...196,080,686
G
Adprh
ADP-ribosylarginine hydrolase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:75,805,347...75,811,686
Ensembl chr11:75,805,310...75,812,452
G
Agap1
ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:97,487,382...97,922,870
Ensembl chr 9:97,487,406...97,922,870
G
Agpat2
1-acylglycerol-3-phosphate O-acyltransferase 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:29,814,924...29,826,569
Ensembl chr 3:29,814,924...29,826,581
G
Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32048163
NCBI chr19:69,426,540...69,447,017
Ensembl chr19:69,421,638...69,446,944
G
Agtr1a
angiotensin II receptor, type 1a
ISO
associated with hypertension
RGD
PMID:32228222
RGD:30296671
NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,381,467...34,435,660
G
Ahnak
AHNAK nucleoprotein
ISO
mRNA:decreased expression:CD4+ T cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 1:215,311,289...215,400,010
Ensembl chr 1:215,321,931...215,400,675
G
Aida
axin interactor, dorsalization associated
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr13:97,471,931...97,499,531
Ensembl chr13:97,471,604...97,499,535
G
Aimp2
aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:15,814,854...15,824,432
Ensembl chr12:15,814,878...15,824,431
G
Ajm1
apical junction component 1 homolog
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:28,793,078...28,799,459
Ensembl chr 3:28,774,457...28,800,096
G
Ak2
adenylate kinase 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:146,609,469...146,649,008
Ensembl chr 5:146,630,445...146,650,610
G
Ak4
adenylate kinase 4
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:121,154,565...121,214,403
Ensembl chr 5:121,154,572...121,214,401
G
Akap12
A-kinase anchoring protein 12
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:43,135,515...43,225,245
Ensembl chr 1:43,199,008...43,225,557
G
Akap5
A-kinase anchoring protein 5
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:100,787,169...100,796,712
Ensembl chr 6:100,790,148...100,796,620
G
Akip1
A-kinase interacting protein 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:173,169,520...173,178,445
Ensembl chr 1:173,169,458...173,178,445
G
Akr1c3
aldo-keto reductase family 1, member C3
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr17:71,020,884...71,037,779
Ensembl chr17:70,970,900...71,048,438
G
Akt3
AKT serine/threonine kinase 3
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:91,475,839...91,758,060
Ensembl chr13:91,475,839...91,748,020
G
Alb
albumin
severity
ISO
RGD
PMID:32198776 PMID:32427582
RGD:30296673 , RGD:30309200
NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865
G
Alcam
activated leukocyte cell adhesion molecule
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:61,804,932...62,005,250
Ensembl chr11:61,805,049...62,006,876
G
Aldh1l2
aldehyde dehydrogenase 1 family, member L2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:22,141,872...22,193,403
Ensembl chr 7:22,141,842...22,193,398
G
Aldh4a1
aldehyde dehydrogenase 4 family, member A1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:157,163,189...157,188,673
Ensembl chr 5:157,162,945...157,188,673
G
Aldh9a1
aldehyde dehydrogenase 9 family, member A1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:82,038,679...82,055,478
Ensembl chr13:82,038,533...82,055,481
G
Alg14
ALG14, UDP-N-acetylglucosaminyltransferase subunit
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:212,053,008...212,130,136
Ensembl chr 2:212,044,969...212,130,140
G
Alox15b
arachidonate 15-lipoxygenase, type B
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:54,391,331...54,400,648
Ensembl chr10:54,391,302...54,400,648
G
Amph
amphiphysin
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr17:50,435,018...50,678,583
Ensembl chr17:50,435,018...50,678,501
G
Ang
angiogenin
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr15:26,786,233...26,796,883
Ensembl chr15:26,786,065...26,801,106
G
Angpt2
angiopoietin 2
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:32458111
RGD:32716385
NCBI chr16:77,790,760...77,841,241
Ensembl chr16:77,790,563...77,841,239
G
Angptl6
angiopoietin-like 6
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:27,689,804...27,696,172
Ensembl chr 8:27,689,806...27,696,111
G
Ankle1
ankyrin repeat and LEM domain containing 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr16:18,109,865...18,116,999
Ensembl chr16:18,110,476...18,114,244
G
Anln
anillin, actin binding protein
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:29,134,222...29,197,513
Ensembl chr 8:29,134,222...29,197,513
G
Ano5
anoctamin 5
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:110,222,411...110,323,505
Ensembl chr 1:110,222,446...110,323,501
G
Anxa1
annexin A1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:227,287,717...227,306,831
G
Anxa2
annexin A2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:78,986,252...79,022,638
Ensembl chr 8:78,986,242...79,022,631
G
Anxa5
annexin A5
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:121,242,133...121,272,935
Ensembl chr 2:121,242,136...121,281,400
G
Ap2s1
adaptor related protein complex 2 subunit sigma 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:86,545,601...86,557,007
Ensembl chr 1:86,545,350...86,557,009
G
Apol9a
apolipoprotein L9a
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:111,021,452...111,030,380
Ensembl chr 7:111,021,453...111,028,213
G
Areg
amphiregulin
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr14:17,256,384...17,265,641
Ensembl chr14:17,256,384...17,265,641
G
Arhgap12
Rho GTPase activating protein 12
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr17:56,284,282...56,397,630
Ensembl chr17:56,284,286...56,397,563
G
Arhgap23
Rho GTPase activating protein 23
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:82,891,021...82,993,230
Ensembl chr10:82,890,853...82,993,228
G
Arhgap29
Rho GTPase activating protein 29
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:212,744,626...212,816,710
Ensembl chr 2:212,755,803...212,986,729
G
Arhgap31
Rho GTPase activating protein 31
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:75,544,176...75,657,087
Ensembl chr11:75,544,040...75,661,076
G
Ark2c
arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr18:73,259,736...73,375,987
Ensembl chr18:73,264,901...73,375,987
G
Arl4c
ARF like GTPase 4C
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:96,748,075...96,751,510
Ensembl chr 9:96,745,069...96,752,772
G
Arl4d
ARF like GTPase 4D
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:87,092,276...87,103,079
Ensembl chr10:87,077,523...87,106,199
G
Arl5b
ARF like GTPase 5B
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr17:82,864,315...82,888,458
Ensembl chr17:82,864,287...82,890,646
G
Arpin
actin-related protein 2/3 complex inhibitor
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:143,273,590...143,282,426
Ensembl chr 1:143,273,590...143,282,532
G
Arvcf
ARVCF, delta catenin family member
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:96,092,451...96,150,144
Ensembl chr11:96,092,451...96,150,163
G
Ascc3
activating signal cointegrator 1 complex subunit 3
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr20:55,089,430...55,372,374
Ensembl chr20:55,255,503...55,372,374
G
Asgr2
asialoglycoprotein receptor 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:55,320,082...55,333,294
Ensembl chr10:55,320,091...55,333,263
G
Aspm
assembly factor for spindle microtubules
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:53,625,584...53,674,489
Ensembl chr13:53,625,584...53,674,489
G
Atp11a
ATPase phospholipid transporting 11A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35255492
NCBI chr16:83,359,884...83,469,807
Ensembl chr16:83,359,884...83,469,767
G
Atp5f1b
ATP synthase F1 subunit beta
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:1,100,058...1,106,461
Ensembl chr 7:1,099,860...1,106,462
G
Atp5f1c
ATP synthase F1 subunit gamma
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr17:73,333,584...73,355,872
Ensembl chr17:73,333,588...73,383,073
G
Atp5mc3
ATP synthase membrane subunit c locus 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:79,218,014...79,220,664
Ensembl chr 3:79,218,014...79,220,664
G
Atp5pb
ATP synthase peripheral stalk-membrane subunit b
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:196,112,459...196,123,737
Ensembl chr 2:196,112,108...196,124,387
G
Atp6v1f
ATPase H+ transporting V1 subunit F
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:59,033,020...59,035,980
G
Aurka
aurora kinase A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:181,546,742...181,562,890
Ensembl chr 3:181,546,742...181,562,771
G
Aurkb
aurora kinase B
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:54,243,116...54,249,675
Ensembl chr10:54,242,850...54,252,285
G
Auts2
activator of transcription and developmental regulator AUTS2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:29,739,138...30,830,386
Ensembl chr12:29,740,523...30,830,386
G
B3gat1
beta-1,3-glucuronyltransferase 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:33,362,791...33,390,446
Ensembl chr 8:33,363,048...33,390,443
G
B4galnt3
beta-1,4-N-acetyl-galactosaminyl transferase 3
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:155,081,261...155,181,255
Ensembl chr 4:155,081,261...155,181,244
G
B4galt5
beta-1,4-galactosyltransferase 5
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 3:176,437,073...176,453,001
Ensembl chr 3:176,437,073...176,488,978
G
Bag1
BAG cochaperone 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 5:60,864,476...60,877,059
Ensembl chr 5:60,864,476...60,878,161
G
Batf2
basic leucine zipper ATF-like transcription factor 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:212,897,076...212,905,740
Ensembl chr 1:212,875,148...212,905,831
G
Bcat1
branched chain amino acid transaminase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:179,695,662...179,777,973
Ensembl chr 4:179,695,662...179,777,288
G
Bcl11a
BCL11 transcription factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35255492
NCBI chr14:102,230,147...102,325,289
Ensembl chr14:102,231,113...102,325,623
G
Bcl11b
BCL11 transcription factor B
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:132,598,968...132,692,123
Ensembl chr 6:132,598,968...132,691,301
G
Bcl2a1
BCL2-related protein A1
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 8:98,596,806...98,604,890
Ensembl chr 8:98,596,650...98,604,890
G
Bdh1
3-hydroxybutyrate dehydrogenase 1
severity
ISO
associated with cardiovascular system disease;protein:increased expression:blood (human)
RGD
PMID:32456948
RGD:30309957
NCBI chr11:82,806,125...82,848,133
Ensembl chr11:82,807,503...82,842,636
G
Begain
brain-enriched guanylate kinase-associated
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:133,708,010...133,744,264
Ensembl chr 6:133,708,007...133,744,526
G
Bet1
Bet1 golgi vesicular membrane trafficking protein
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 4:33,070,892...33,081,162
Ensembl chr 4:33,070,891...33,081,164
G
Bhlhe40
basic helix-loop-helix family, member e40
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 4:143,174,450...143,180,150
Ensembl chr 4:143,174,048...143,180,783
G
Birc5
baculoviral IAP repeat-containing 5
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,572,080...103,582,155
G
Blvra
biliverdin reductase A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:134,793,397...134,819,367
Ensembl chr 3:134,794,203...134,819,785
G
Bmal2
basic helix-loop-helix ARNT like 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:181,429,097...181,478,384
Ensembl chr 4:181,430,159...181,478,382
G
Bmerb1
bMERB domain containing 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:2,286,999...2,453,890
Ensembl chr10:2,287,000...2,453,728
G
Bmpr1a
bone morphogenetic protein receptor type 1A
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr16:9,740,751...9,786,861
Ensembl chr16:9,742,875...9,786,861
G
Brca2
BRCA2, DNA repair associated
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:4,895,092...4,939,340
Ensembl chr12:4,895,447...4,936,194
G
Bsg
basigin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:32307653
NCBI chr 7:10,643,788...10,651,005
Ensembl chr 7:10,643,789...10,651,005
G
Btk
Bruton tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism protein:increased phosphorylation:blood, monocyte (human)
CTD RGD
PMID:32503877 PMID:32503877
RGD:124713553
NCBI chr X:102,016,070...102,055,448
Ensembl chr X:102,016,074...102,055,143
G
Bub1
BUB1 mitotic checkpoint serine/threonine kinase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:135,473,525...135,504,921
Ensembl chr 3:135,472,582...135,504,921
G
Bub1b
BUB1 mitotic checkpoint serine/threonine kinase B
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:126,017,019...126,069,470
Ensembl chr 3:126,017,045...126,069,796
G
Bzw2
basic leucine zipper and W2 domains 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:58,555,362...58,615,921
Ensembl chr 6:58,554,961...58,615,912
G
C13h1orf115
similar to human chromosome 1 open reading frame 115
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:98,953,841...98,963,577
Ensembl chr13:98,953,843...98,963,810
G
C13h1orf21
similar to human chromosome 1 open reading frame 21
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:66,540,245...66,749,631
Ensembl chr13:66,540,245...66,659,684
G
C15h14orf119
similar to human chromosome 14 open reading frame 119
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr15:32,116,220...32,121,425
Ensembl chr15:32,116,021...32,122,416
G
C1galt1
core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 4:36,894,440...36,932,434
Ensembl chr 4:36,894,488...36,932,441
G
C1h16orf54
similar to human chromosome 16 open reading frame 54
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:191,132,972...191,135,653
Ensembl chr 1:191,132,030...191,135,910
G
C1h19orf84
similar to human chromosome 19 open reading frame 84
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:102,971,969...102,973,907
Ensembl chr 1:102,971,947...102,973,905
G
C1qa
complement C1q A chain
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:154,417,086...154,419,933
Ensembl chr 5:154,417,087...154,427,732
G
C1qb
complement C1q B chain
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:154,402,276...154,407,827
Ensembl chr 5:154,402,279...154,407,840
G
C1qc
complement C1q C chain
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:154,410,845...154,414,208
Ensembl chr 5:154,410,848...154,414,468
G
C2
complement C2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr20:3,944,722...3,975,006
Ensembl chr20:3,955,776...3,981,740
G
C2h1orf162
similar to human chromosome 1 open reading frame 162
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:196,101,669...196,107,404
Ensembl chr 2:196,100,702...196,106,832
G
C3
complement C3
severity
ISO
protein:increased expression:serum (human) DNA:SNPs: :rs1047286,rs2230203,rs2230199(human)
RGD
PMID:32434211 PMID:32747830
RGD:30310238 , RGD:38500238
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339
G
C3ar1
complement C3a receptor 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human) mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226 PMID:32407669
RGD:28912744 RGD:30296672
NCBI chr 4:157,747,419...157,756,609
Ensembl chr 4:157,746,089...157,776,323
G
C4bpa
complement component 4 binding protein, alpha
severity
ISO
DNA:SNP: :rs61821041(human)
RGD
PMID:32747830
RGD:38500238
NCBI chr13:44,627,959...44,663,552
Ensembl chr13:44,627,982...44,663,471
G
C4bpb
complement component 4 binding protein, beta
severity
ISO
DNA:SNP: :rs45574833(human)
RGD
PMID:32747830
RGD:38500238
NCBI chr13:44,673,064...44,683,781
Ensembl chr13:44,673,065...44,683,793
G
C5
complement C5
severity
ISO
protein:increased expression:plasma (human) mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226 PMID:32417135
RGD:28912744 , RGD:30310235
NCBI chr 3:38,668,174...38,759,468
Ensembl chr 3:38,668,174...38,759,468
G
Ca11
carbonic anhydrase 11
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:105,306,347...105,311,651
Ensembl chr 1:105,302,289...105,311,832
G
Cabp4
calcium binding protein 4
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:210,857,223...210,872,431
Ensembl chr 1:210,858,133...210,862,632
G
Cacna2d2
calcium voltage-gated channel auxiliary subunit alpha2delta 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:116,950,860...117,082,159
Ensembl chr 8:116,950,907...117,081,759
G
Calca
calcitonin-related polypeptide alpha
severity disease_progression
ISO
associated with diabetes mellitus
RGD
PMID:32198776 PMID:32345579 PMID:32220650
RGD:30296673 , RGD:30296681 , RGD:30296674
NCBI chr 1:178,312,636...178,317,588
Ensembl chr 1:178,312,638...178,317,529
G
Calcrl
calcitonin receptor like receptor
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:89,835,071...89,932,616
Ensembl chr 3:89,835,077...89,887,350
G
Calm2
calmodulin 2
ISO
mRNA:decreased expression:CD4+ T cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 6:12,845,170...12,857,830
Ensembl chr15:64,519,554...64,520,657 Ensembl chr 6:64,519,554...64,520,657
G
Camk2n1
calcium/calmodulin-dependent protein kinase II inhibitor 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:155,958,116...155,959,897
Ensembl chr 5:155,957,878...155,961,058
G
Camp
cathelicidin antimicrobial peptide
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:118,720,184...118,721,998
Ensembl chr 8:118,720,184...118,721,998
G
Capg
capping actin protein, gelsolin like
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:106,152,912...106,170,010
Ensembl chr 4:106,152,890...106,170,672
G
Capns1
calpain, small subunit 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:94,572,083...94,582,332
Ensembl chr 1:94,572,083...94,583,368
G
Capza2
capping actin protein of muscle Z-line subunit alpha 2
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 4:46,944,040...46,979,930
Ensembl chr 4:46,895,701...46,979,938
G
Card6
caspase recruitment domain family, member 6
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:55,921,832...55,934,388
Ensembl chr 2:55,921,832...55,934,363
G
Casp4
caspase 4
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 8:10,883,817...10,919,978
Ensembl chr 8:10,883,769...10,920,727
G
Cat
catalase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:110,297,342...110,329,526
G
Cbr1
carbonyl reductase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:46,346,405...46,348,815
Ensembl chr11:46,378,411...46,381,104 Ensembl chr11:46,378,411...46,381,104
G
Ccdc200
coiled-coil domain containing 200
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:87,017,950...87,023,364
Ensembl chr10:87,017,838...87,023,439
G
Ccdc80
coiled-coil domain containing 80
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:69,191,188...69,224,844
Ensembl chr11:69,191,189...69,224,844
G
Ccl2
C-C motif chemokine ligand 2
severity
ISO
protein:increased expression:serum: CTD Direct Evidence: marker/mechanism protein:increased expression:plasma (human) protein:increased expression:serum (human)
CTD RGD
PMID:31986264 PMID:32416070 PMID:32696007 PMID:31986264 PMID:32360286 PMID:32427582 More...
RGD:30296676 , RGD:38501088 , RGD:30309212 , RGD:30309209 , RGD:30309200
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
G
Ccl20
C-C motif chemokine ligand 20
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:91,836,946...91,839,736
G
Ccl27
C-C motif chemokine ligand 27
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:32360286
RGD:30309209
NCBI chr 5:61,737,261...61,744,375
Ensembl chr 5:61,737,261...61,743,522
G
Ccl3
C-C motif chemokine ligand 3
severity
ISO
protein:increased expression:plasma (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:31986264 PMID:32360286 PMID:31986264
RGD:30309209 , RGD:30309212
NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,948,889...68,950,439
G
Ccl4
C-C motif chemokine ligand 4
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:32360286 PMID:32696007 PMID:31986264
RGD:30309209 , RGD:38501088 , RGD:30309212
NCBI chr10:68,963,893...68,965,728
Ensembl chr10:68,950,289...68,965,722
G
Ccl5
C-C motif chemokine ligand 5
severity
ISO
protein:increased expression:serum (human)
RGD
PMID:32427582
RGD:30309200
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,738,651...68,824,884
G
Ccl7
C-C motif chemokine ligand 7
severity
ISO
protein:increased expression:plasma (human) mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669 PMID:32360286
RGD:30296672 , RGD:30309209
NCBI chr10:67,514,095...67,515,945
Ensembl chr10:67,514,091...67,515,947
G
Ccn3
cellular communication network factor 3
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:87,983,788...87,990,810
Ensembl chr 7:87,982,216...87,994,581
G
Ccna2
cyclin A2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:121,355,363...121,361,762
Ensembl chr 2:121,355,363...121,361,701
G
Ccnb1
cyclin B1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:33,646,252...33,655,225
Ensembl chr 2:33,646,252...33,655,225
G
Ccnb2
cyclin B2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:79,968,459...79,981,717
Ensembl chr 8:79,968,465...79,981,682
G
Ccr1
C-C motif chemokine receptor 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 8:132,433,711...132,439,266
Ensembl chr 8:132,431,592...132,439,374
G
Ccr2
C-C motif chemokine receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33307546
NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:132,611,410...132,620,059
G
Ccr3
C-C motif chemokine receptor 3
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:132,463,533...132,511,601
Ensembl chr 8:132,463,788...132,511,593
G
Ccr7
C-C motif chemokine receptor 7
ISO
mRNA:decreased expression:CD4+ T cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr10:84,594,399...84,604,514
Ensembl chr10:84,593,594...84,604,501
G
Ccr9
C-C motif chemokine receptor 9
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:132,273,581...132,287,651
Ensembl chr 8:132,273,544...132,287,883
G
Ccrl2
C-C motif chemokine receptor like 2
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 8:119,912,671...119,915,313
Ensembl chr 8:119,911,288...119,922,380
G
Cct5
chaperonin containing TCP1 subunit 5
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:84,302,621...84,313,773
Ensembl chr 2:84,302,623...84,313,779
G
Cct8
chaperonin containing TCP1 subunit 8
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:40,196,619...40,208,328
Ensembl chr11:40,196,619...40,208,328
G
Cd163
CD163 molecule
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:158,770,749...158,804,146
G
Cd180
CD180 molecule
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:35,589,889...35,602,837
Ensembl chr 2:35,589,451...35,603,982
G
Cd209d
CD209d molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35255492
NCBI chr12:6,689,002...6,695,452
Ensembl chr12:6,689,002...6,698,976
G
Cd247
Cd247 molecule
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:80,576,264...80,651,422
Ensembl chr13:80,576,202...80,655,248
G
Cd2ap
CD2-associated protein
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 9:25,580,071...25,679,968
Ensembl chr 9:25,583,975...25,679,968
G
Cd4
Cd4 molecule
severity
ISO
protein:decreased expression:blood, T cell (human) protein:decreased expression:serum, lung, T cell (human)
RGD
PMID:32364527 PMID:32427582
RGD:27226699 , RGD:30309200
NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:159,356,337...159,381,461
G
Cd68
Cd68 molecule
ISO
mRNA:decreased expression:dendritic cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,880,563...54,882,540
G
Cd79a
CD79a molecule
ISO
mRNA:decreased expression:antibody secreting B cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 1:89,621,460...89,625,813
Ensembl chr 1:89,621,460...89,625,812
G
Cd8a
CD8 subunit alpha
severity exacerbates
ISO
protein:decreased expression:serum, lung, T cell (human) protein:increased expression:blood, T cell (mouse) mRNA:increased expression:epithelium of nasopharynx (human)
RGD
PMID:32427582 PMID:32991819 PMID:32898168
RGD:30309200 , RGD:124715452 , RGD:124715451
NCBI chr 4:104,924,116...104,928,353
Ensembl chr 4:104,900,833...104,928,358
G
Cdc20
cell division cycle 20
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:137,251,596...137,255,799
Ensembl chr 5:137,251,596...137,255,799
G
Cdc25a
cell division cycle 25A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:118,742,824...118,761,190
Ensembl chr 8:118,742,426...118,761,188
G
Cdc42bpa
CDC42 binding protein kinase alpha
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:94,215,359...94,435,681
Ensembl chr13:94,215,959...94,435,681
G
Cdc45
cell division cycle 45
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:95,689,702...95,714,980
Ensembl chr11:95,689,919...95,714,981
G
Cdc6
cell division cycle 6
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:84,360,361...84,374,239
Ensembl chr10:84,360,381...84,374,241
G
Cdca2
cell division cycle associated 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr15:46,071,360...46,117,524
Ensembl chr15:46,071,360...46,116,639
G
Cdca3
cell division cycle associated 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:159,321,203...159,325,072
Ensembl chr 4:159,321,014...159,325,068
G
Cdca5
cell division cycle associated 5
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:212,807,863...212,821,313
Ensembl chr 1:212,804,014...212,821,309
G
Cdca8
cell division cycle associated 8
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:142,461,082...142,483,336
Ensembl chr 5:142,461,084...142,483,283
G
Cdhr1
cadherin-related family member 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr16:12,863,696...12,883,579
Ensembl chr16:12,863,696...12,883,579
G
Cdhr3
cadherin-related family member 3
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:55,369,215...55,429,454
Ensembl chr 6:55,369,851...55,429,458
G
Cdk1
cyclin-dependent kinase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr20:19,265,252...19,280,456
Ensembl chr20:19,265,289...19,280,455
G
Cdk5
cyclin-dependent kinase 5
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:11,647,098...11,651,606
Ensembl chr 4:11,647,141...11,652,777
G
Cdkn1c
cyclin-dependent kinase inhibitor 1C
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:208,084,801...208,087,680
Ensembl chr 1:208,084,787...208,087,498
G
Cdkn3
cyclin-dependent kinase inhibitor 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr15:22,502,299...22,513,725
Ensembl chr15:22,502,382...22,513,722
G
Cebpa
CCAAT/enhancer binding protein alpha
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:96,896,584...96,899,256
Ensembl chr 1:96,896,171...96,899,309
G
Cenpf
centromere protein F
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:103,715,344...103,760,931
Ensembl chr13:103,715,344...103,760,886
G
Cenpu
centromere protein U
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr16:52,448,446...52,471,662
Ensembl chr16:52,425,096...52,471,662
G
Cenpw
centromere protein W
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:29,353,939...29,359,109
Ensembl chr 1:29,353,970...29,359,109
G
Cep126
centrosomal protein 126
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:13,485,211...13,552,711
Ensembl chr 8:13,490,685...13,552,221
G
Cep55
centrosomal protein 55
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:245,245,272...245,260,835
Ensembl chr 1:245,245,306...245,260,890
G
Cep78
centrosomal protein 78
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:222,674,193...222,702,124
Ensembl chr 1:222,674,194...222,702,120
G
Cers6
ceramide synthase 6
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:74,038,520...74,287,544
Ensembl chr 3:74,038,851...74,287,544
G
Ces1d
carboxylesterase 1D
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr19:30,046,494...30,085,039
Ensembl chr19:30,046,449...30,085,449
G
Cfh
complement factor H
severity
ISO
DNA:SNP: :
RGD
PMID:32747830
RGD:38500238
NCBI chr13:54,063,079...54,164,523
Ensembl chr13:54,062,531...54,164,532
G
Chi3l1
chitinase 3 like 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:48,193,839...48,201,822
Ensembl chr13:48,193,800...48,201,825
G
Chic1
cysteine-rich hydrophobic domain 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr X:72,427,851...72,471,924
Ensembl chr X:72,427,851...72,471,924
G
Chmp5
charged multivesicular body protein 5
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 5:60,877,369...60,894,512
Ensembl chr 5:60,877,341...60,894,511
G
Chrna7
cholinergic receptor nicotinic alpha 7 subunit
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:126,123,425...126,249,181
Ensembl chr 1:126,123,425...126,446,858
G
Chst13
carbohydrate sulfotransferase 13
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:124,381,226...124,395,143
Ensembl chr 4:124,381,226...124,395,143
G
Cir1
corepressor interacting with RBPJ, CIR1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 3:78,566,438...78,596,309
Ensembl chr 3:78,566,438...78,596,309
G
Cit
citron rho-interacting serine/threonine kinase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:46,263,881...46,425,642
Ensembl chr12:46,266,369...46,424,656
G
Cks2
CDC28 protein kinase regulatory subunit 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr17:13,722,360...13,727,519
Ensembl chr17:13,722,361...13,727,519
G
Clcf1
cardiotrophin-like cytokine factor 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:210,937,763...210,947,064
Ensembl chr 1:210,937,255...210,947,064
G
Clcn4
chloride voltage-gated channel 4
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr X:27,290,769...27,356,967
Ensembl chr X:27,290,868...27,356,939
G
Cldn7
claudin 7
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:55,188,670...55,190,871
Ensembl chr10:55,188,684...55,190,905
G
Cldnd2
claudin domain containing 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:102,985,122...102,988,010
Ensembl chr 1:102,985,122...102,987,808
G
Clec12a
C-type lectin domain family 12, member A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:164,484,162...164,502,793
Ensembl chr 4:164,484,162...164,510,233
G
Clec12b
C-type lectin domain family 12, member B
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:164,512,893...164,529,846
Ensembl chr 4:164,513,497...164,524,976
G
Clec1b
C-type lectin domain family 1, member B
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:164,533,987...164,542,320
Ensembl chr 4:164,534,055...164,542,867
G
Clspn
claspin
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:144,134,619...144,169,531
Ensembl chr 5:144,134,632...144,169,530
G
Clta
clathrin, light chain A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:63,022,046...63,059,223
Ensembl chr 5:63,041,184...63,059,215
G
Cmtm2b
CKLF-like MARVEL transmembrane domain containing 2B
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr19:647,273...667,683
Ensembl chr19:647,273...658,277
G
Col18a1
collagen type XVIII alpha 1 chain
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr20:11,473,645...11,582,111
Ensembl chr20:11,473,645...11,582,112
G
Col6a2
collagen type VI alpha 2 chain
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,265...12,057,042
G
Colgalt2
collagen beta(1-O)galactosyltransferase 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:67,073,551...67,178,194
Ensembl chr13:67,073,551...67,178,194
G
Commd9
COMM domain containing 9
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:108,630,903...108,645,427
Ensembl chr 3:108,630,980...108,666,091
G
Copb2
COPI coat complex subunit beta 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:108,040,687...108,062,810
Ensembl chr 8:108,040,693...108,064,550
G
Coq5
coenzyme Q5, methyltransferase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:46,977,632...46,994,575
Ensembl chr12:46,977,632...46,994,712
G
Coro2b
coronin 2B
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:71,802,329...71,912,739
Ensembl chr 8:71,802,329...71,912,739
G
Coro6
coronin 6
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:62,808,172...62,817,788
Ensembl chr10:62,809,689...62,817,787
G
Cox5a
cytochrome c oxidase subunit 5A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:66,818,284...66,829,691
Ensembl chr 8:66,818,196...66,830,279
G
Cpa3
carboxypeptidase A3
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:104,641,619...104,673,253
Ensembl chr 2:104,641,621...104,673,237
G
Creg1
cellular repressor of E1A-stimulated genes 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:80,552,779...80,565,272
Ensembl chr13:80,549,933...80,565,272
G
Crip2
cysteine-rich protein 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:138,042,175...138,047,121
Ensembl chr 6:138,041,906...138,047,120
G
Crocc2
ciliary rootlet coiled-coil, rootletin family member 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:101,155,815...101,217,036
Ensembl chr 9:101,156,158...101,216,057
G
Crp
C-reactive protein
severity disease_progression
ISO
protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism associated with hyperglycemia;protein:increased expression:serum (human) associated with cardiovascular system disease;protein:increased expression:blood (human) protein:increased expression:plasma (human) associated with diabetes mellitus
CTD RGD
PMID:32534021 PMID:32125452 PMID:32406594 PMID:32434211 PMID:32456948 PMID:32181911 PMID:32417135 PMID:32365221 PMID:32427582 PMID:32345579 PMID:32198776 PMID:32227274 More...
RGD:27095965 , RGD:32698682 , RGD:30310238 , RGD:30309957 , RGD:30310230 , RGD:30310235 , RGD:30310229 , RGD:30309200 , RGD:30296681 , RGD:30296673 , RGD:27226695
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514
G
Cry1
cryptochrome circadian regulator 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:20,417,526...20,481,791
Ensembl chr 7:20,417,107...20,481,822
G
Crybg2
crystallin beta-gamma domain containing 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:151,570,154...151,602,164
Ensembl chr 5:151,570,540...151,602,163
G
Csf1
colony stimulating factor 1
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:32360286 PMID:32696007
RGD:30309209 , RGD:38501088
NCBI chr 2:198,065,400...198,084,774
Ensembl chr 2:198,065,405...198,084,468
G
Csf2
colony stimulating factor 2
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:31986264
RGD:30309212
NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,887,692...38,890,031
G
Csf3
colony stimulating factor 3
severity
ISO
protein:increased expression:plasma (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:31986264 PMID:32360286 PMID:31986264
RGD:30309209 , RGD:30309212
NCBI chr10:84,157,485...84,159,860
Ensembl chr10:84,157,211...84,159,860
G
Csrnp1
cysteine and serine rich nuclear protein 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 8:128,582,364...128,594,163
Ensembl chr 8:128,582,365...128,588,469
G
Cst7
cystatin F
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:159,857,221...159,865,987
Ensembl chr 3:159,857,052...159,866,919
G
Ctnnd1
catenin delta 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:90,090,025...90,141,247
Ensembl chr 3:90,090,564...90,141,189
G
Ctsb
cathepsin B
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr15:41,565,607...41,586,479
Ensembl chr15:41,565,611...41,586,478
G
Ctsd
cathepsin D
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:206,956,945...206,968,821
Ensembl chr 1:206,956,944...206,968,821
G
Ctsl
cathepsin L
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr17:770,104...776,266
Ensembl chr17:770,093...777,113
G
Ctsz
cathepsin Z
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:183,643,077...183,653,847
Ensembl chr 3:183,643,077...183,657,012
G
Cxcl1
C-X-C motif chemokine ligand 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr14:17,477,542...17,479,321
Ensembl chr14:17,477,549...17,479,811
G
Cxcl10
C-X-C motif chemokine ligand 10
severity
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:plasma (human)
CTD RGD
PMID:31986264 PMID:32427582 PMID:32696007 PMID:31986264 PMID:32360286
RGD:30309200 , RGD:38501088 , RGD:30309212 , RGD:30309209
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261
G
Cxcl11
C-X-C motif chemokine ligand 11
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr14:15,973,728...15,976,503
Ensembl chr14:15,973,720...15,976,567
G
Cxcl16
C-X-C motif chemokine ligand 16
ISO
protein:increased expression:serum:
RGD
PMID:32416070
RGD:30296676
NCBI chr10:55,665,355...55,669,950
Ensembl chr10:55,664,742...55,670,226
G
Cxcl17
C-X-C motif chemokine ligand 17
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 1:90,112,561...90,124,648
Ensembl chr 1:90,112,771...90,124,535
G
Cxcl2
C-X-C motif chemokine ligand 2
ISO
protein:increased expression:serum:
RGD
PMID:32416070
RGD:30296676
NCBI chr14:17,465,210...17,467,255
Ensembl chr14:17,465,242...17,467,255
G
Cxcl3
C-X-C motif chemokine ligand 3
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr14:17,571,900...17,573,624
Ensembl chr14:17,571,900...17,573,624
G
Cxcl6
C-X-C motif chemokine ligand 6
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr14:17,594,959...17,596,417
Ensembl chr14:17,594,959...17,596,417
G
Cxcl9
C-X-C motif chemokine ligand 9
severity
ISO
protein:increased expression:serum: protein:increased expression:plasma (human)
RGD
PMID:32416070 PMID:32696007 PMID:32360286
RGD:30296676 , RGD:38501088 , RGD:30309209
NCBI chr14:16,007,166...16,012,077
Ensembl chr14:16,007,204...16,014,299
G
Cxcr1
C-X-C motif chemokine receptor 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 9:83,216,040...83,220,225
Ensembl chr 9:83,215,292...83,226,872
G
Cxcr2
C-X-C motif chemokine receptor 2
ISO
mRNA:increased expression:bronchoalveolar lavage (human) mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226 PMID:32407669
RGD:28912744 RGD:30296672
NCBI chr 9:83,178,645...83,185,017
Ensembl chr 9:83,183,808...83,188,602
G
Cxcr4
C-X-C motif chemokine receptor 4
ISO
mRNA:decreased expression:memory B cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr13:42,630,383...42,634,288
Ensembl chr13:42,630,104...42,634,459
G
Cybrd1
cytochrome b reductase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:76,342,231...76,369,846
Ensembl chr 3:76,342,404...76,370,061
G
Cyfip1
cytoplasmic FMR1 interacting protein 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:115,842,754...115,935,163
Ensembl chr 1:115,846,661...115,951,292
G
Dapp1
dual adaptor of phosphotyrosine and 3-phosphoinositides 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 2:229,099,319...229,148,868
Ensembl chr 2:229,099,319...229,148,843
G
Ddit4
DNA-damage-inducible transcript 4
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr20:28,434,938...28,437,037
Ensembl chr20:28,434,944...28,437,037
G
Dennd1b
DENN domain containing 1B
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr13:53,096,717...53,324,372
Ensembl chr13:53,092,261...53,324,369
G
Depdc1b
DEP domain containing 1B
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:41,605,686...41,697,207
Ensembl chr 2:41,624,922...41,697,202
G
Depp1
DEPP autophagy regulator 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:151,583,105...151,585,455
Ensembl chr 4:151,581,502...151,586,233
G
Dera
deoxyribose-phosphate aldolase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:172,394,971...172,473,746
Ensembl chr 4:172,394,962...172,490,142
G
Dhcr24
24-dehydrocholesterol reductase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:126,573,366...126,599,940
Ensembl chr 5:126,573,338...126,599,936
G
Dhrs4
dehydrogenase/reductase 4
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr15:32,924,482...32,948,103
Ensembl chr15:32,936,522...32,948,101
G
Dlgap5
DLG associated protein 5
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr15:23,113,678...23,144,281
Ensembl chr15:23,113,678...23,144,176
G
Dock1
dedicator of cyto-kinesis 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:198,897,021...199,413,636
Ensembl chr 1:198,897,045...199,413,627
G
Dpyd
dihydropyrimidine dehydrogenase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:209,293,902...210,159,777
Ensembl chr 2:209,293,929...210,159,778
G
Draxin
dorsal inhibitory axon guidance protein
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:163,813,308...163,846,609
Ensembl chr 5:163,816,502...163,855,174
G
Dsp
desmoplakin
ISO
ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19)
ClinVar
NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,829,153...26,877,121
G
Dtl
denticleless E3 ubiquitin protein ligase homolog
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:105,646,908...105,685,921
Ensembl chr13:105,646,908...105,686,174
G
Dusp1
dual specificity phosphatase 1
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr10:17,184,853...17,187,646
Ensembl chr10:17,184,823...17,187,644
G
Dusp2
dual specificity phosphatase 2
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 3:135,009,636...135,011,821
Ensembl chr 3:135,009,590...135,011,809
G
Dusp7
dual specificity phosphatase 7
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:115,888,091...115,895,126
Ensembl chr 8:115,887,892...115,895,126
G
Dynll1
dynein light chain LC8-type 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:46,945,291...46,976,867
Ensembl chr12:46,973,050...46,976,861
G
E2f1
E2F transcription factor 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:163,524,739...163,535,563
Ensembl chr 3:163,524,739...163,535,563
G
E2f2
E2F transcription factor 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:153,682,789...153,706,087
Ensembl chr 5:153,682,789...153,706,087
G
Eaf2
ELL associated factor 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:77,465,585...77,509,993
Ensembl chr11:77,406,020...77,509,993
G
Ebf4
EBF family member 4
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:137,951,310...138,019,682
Ensembl chr 3:137,951,335...138,019,665
G
Echdc3
enoyl CoA hydratase domain containing 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr17:76,980,112...77,002,934
Ensembl chr17:76,980,083...77,002,934
G
Eef1a1
eukaryotic translation elongation factor 1 alpha 1
ISO
mRNA:decreased expression:antibody secreting B cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 8:88,221,839...88,225,688
Ensembl chr 8:88,221,843...88,225,072
G
Eef2
eukaryotic translation elongation factor 2
ISO
mRNA:decreased expression:antibody secreting B cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 7:9,183,836...9,196,255
Ensembl chr 7:9,183,961...9,189,544
G
Efcab2
EF-hand calcium binding domain 2
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr13:92,683,182...92,769,939
Ensembl chr13:92,684,086...92,782,558
G
Efna5
ephrin A5
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:109,763,786...110,042,396
Ensembl chr 9:109,767,252...110,042,348
G
Egr3
early growth response 3
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr15:51,560,482...51,565,778
Ensembl chr15:51,560,344...51,565,712
G
Eif4e3
eukaryotic translation initiation factor 4E family member 3
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 4:133,709,802...133,858,398
Ensembl chr 4:133,625,768...133,885,647
G
Eif4g1
eukaryotic translation initiation factor 4 gamma 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:93,726,322...93,746,387
Ensembl chr11:93,726,322...93,746,367
G
Elane
elastase, neutrophil expressed
ISO
protein:increased expression:plasma (human)
RGD
PMID:32696007
RGD:38501088
NCBI chr 7:10,467,877...10,469,725
Ensembl chr 7:10,467,877...10,469,725
G
Elf1
E74 like ETS transcription factor 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr15:61,354,026...61,395,762
Ensembl chr15:61,330,877...61,395,758
G
Ell2
elongation factor for RNA polymerase II 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:6,910,446...6,990,654
Ensembl chr 2:6,921,771...7,016,199
G
Eno1
enolase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:166,002,867...166,014,252
Ensembl chr 3:77,946,261...77,986,003 Ensembl chr 5:77,946,261...77,986,003
G
Enpp3
ectonucleotide pyrophosphatase/phosphodiesterase 3
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:22,382,717...22,454,324
Ensembl chr 1:22,382,964...22,454,314
G
Enpp5
ectonucleotide pyrophosphatase/phosphodiesterase family member 5
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:24,407,574...24,415,029
Ensembl chr 9:24,408,218...24,414,867
G
Ephb1
Eph receptor B1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:111,386,432...111,823,759
Ensembl chr 8:111,386,432...111,823,759
G
Ephb2
Eph receptor B2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:154,179,065...154,360,459
Ensembl chr 5:154,179,065...154,360,615
G
Eps8
EGFR pathway substrate 8, signaling adaptor
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:172,119,497...172,291,670
Ensembl chr 4:172,119,497...172,218,160
G
Epsti1
epithelial stromal interaction 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human) mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226 PMID:32407669
RGD:28912744 RGD:30296672
NCBI chr15:59,692,712...59,791,376
Ensembl chr15:59,693,142...59,791,380
G
Eral1
Era-like 12S mitochondrial rRNA chaperone 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:63,459,774...63,466,829
Ensembl chr10:63,459,774...63,468,225
G
Eri2
ERI1 exoribonuclease family member 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:183,551,919...183,600,134
Ensembl chr 1:183,573,357...183,600,185
G
Erlin1
ER lipid raft associated 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:252,870,356...252,905,681
Ensembl chr 1:252,870,356...252,905,947
G
Espl1
extra spindle pole bodies like 1, separase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:135,302,460...135,329,570
Ensembl chr 7:135,302,716...135,329,570
G
Esr2
estrogen receptor 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:100,545,206...100,644,709
G
Esrp2
epithelial splicing regulatory protein 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr19:50,944,401...50,951,919
Ensembl chr19:50,944,401...50,951,568
G
Exo1
exonuclease 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:90,341,947...90,366,861
Ensembl chr13:90,342,018...90,366,861
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:77,624,223...77,687,183
G
F2
coagulation factor II, thrombin
severity disease_progression
ISO
associated with diabetes mellitus
RGD
PMID:32198776 PMID:32350161 PMID:32345579 PMID:32302954
RGD:30296673 , RGD:30309962 , RGD:30296681 , RGD:30296679
NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:98,051,960...98,065,246
G
F3
coagulation factor III, tissue factor
severity
ISO
DNA:SNP: : (rs72729504) (human)
RGD
PMID:32198776 PMID:32747830
RGD:30296673 , RGD:38500238
NCBI chr 2:212,511,675...212,523,375
Ensembl chr 2:212,511,680...212,523,369
G
F5
coagulation factor V
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:79,046,657...79,116,247
Ensembl chr13:79,046,448...79,116,247
G
F8
coagulation factor VIII
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35255492
NCBI chr18:155,237...187,186
Ensembl chr18:155,309...186,683
G
Fads1
fatty acid desaturase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:216,252,605...216,267,618
Ensembl chr 1:216,252,602...216,267,615
G
Fah
fumarylacetoacetate hydrolase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:147,957,931...147,980,708
Ensembl chr 1:147,957,935...147,981,046
G
Fam131b
family with sequence similarity 131, member B
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:72,167,667...72,176,924
Ensembl chr 4:72,165,578...72,176,858
G
Fam13a
family with sequence similarity 13, member A
ISO
ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19)
ClinVar
NCBI chr 4:89,386,685...89,485,940
Ensembl chr 4:89,388,569...89,485,988
G
Fam169a
family with sequence similarity 169, member A
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:30,115,307...30,175,972
Ensembl chr 2:30,119,381...30,175,962
G
Fam20c
FAM20C, golgi associated secretory pathway kinase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:20,940,654...20,999,072
Ensembl chr12:20,940,654...20,998,318
G
Fam72a
family with sequence similarity 72, member A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:45,519,940...45,531,322
Ensembl chr13:45,519,818...45,531,324
G
Fam89a
family with sequence similarity 89, member A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr19:69,607,391...69,620,019
Ensembl chr19:69,607,391...69,620,019
G
Fcmr
Fc mu receptor
ISO
mRNA:decreased expression:memory B cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr13:44,889,628...44,903,926
Ensembl chr13:44,889,697...44,906,314
G
Fcrl5
Fc receptor-like 5
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:175,179,630...175,211,180
Ensembl chr 2:175,179,690...175,211,039
G
Fcrl6
Fc receptor-like 6
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:87,595,058...87,604,657
Ensembl chr13:87,595,058...87,604,949
G
Fer1l4
fer-1-like family member 4
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:164,996,183...165,031,719
Ensembl chr 3:164,996,183...165,031,719
G
Fgd2
FYVE, RhoGEF and PH domain containing 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr20:7,426,407...7,443,207
Ensembl chr20:7,426,414...7,443,207
G
Fgf2
fibroblast growth factor 2
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:31986264
RGD:30309212
NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:122,164,454...122,224,493
G
Fgfrl1
fibroblast growth factor receptor-like 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr14:1,154,275...1,166,334
Ensembl chr14:1,154,275...1,166,752
G
Fgl2
fibrinogen-like 2
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 4:14,602,762...14,608,405
Ensembl chr 4:14,602,771...14,608,405
G
Fh
fumarate hydratase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:90,056,565...90,082,450
Ensembl chr13:90,056,570...90,089,627
G
Fhip1a
FHF complex subunit HOOK interacting protein 1A
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:173,319,252...173,489,514
Ensembl chr 2:173,319,257...173,453,902
G
Fkbp5
FKBP prolyl isomerase 5
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr20:6,458,931...6,577,227
Ensembl chr20:6,458,940...6,543,118
G
Fkbp9
FKBP prolyl isomerase 9
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:87,436,439...87,486,909
Ensembl chr 4:87,436,478...87,508,940
G
Flt1
Fms related receptor tyrosine kinase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:12,333,430...12,504,750
G
Flt3
Fms related receptor tyrosine kinase 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:12,660,035...12,735,584
Ensembl chr12:12,659,946...12,735,581
G
Flvcr2
FLVCR choline and putative heme transporter 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:111,139,352...111,203,345
Ensembl chr 6:111,139,295...111,203,345
G
Fmr1
fragile X messenger ribonucleoprotein 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr X:152,284,857...152,322,686
Ensembl chr X:152,284,841...152,322,675
G
Fn1
fibronectin 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:80,645,507...80,714,137
G
Fosb
FosB proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 1:88,082,324...88,089,506
Ensembl chr 1:88,082,127...88,089,477
G
Foxn2
forkhead box N2
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 6:11,772,180...11,818,751
Ensembl chr 6:11,772,180...11,818,751
G
Fpr3
formyl peptide receptor 3
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 1:67,557,464...67,566,509
Ensembl chr 1:67,518,199...67,566,519
G
Frrs1
ferric-chelate reductase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:207,505,786...207,566,376
Ensembl chr 2:207,507,910...207,566,376
G
Fth1
ferritin heavy chain 1
severity
ISO
protein:increased expression:serum (human) associated with hyperglycemia;protein:increased expression:serum (human)
RGD
PMID:32365221 PMID:32406594
RGD:30310229 , RGD:32698682
NCBI chr 1:216,052,037...216,054,325
Ensembl chr 1:216,051,998...216,055,214
G
Ftl1
ferritin light chain 1
severity
ISO
protein:increased expression:serum (human) associated with hyperglycemia;protein:increased expression:serum (human)
RGD
PMID:32365221 PMID:32406594
RGD:30310229 , RGD:32698682
NCBI chr 1:105,072,858...105,074,705
Ensembl chr X:45,399,355...45,399,915 Ensembl chr 2:45,399,355...45,399,915 Ensembl chr 1:45,399,355...45,399,915
G
Fuca2
alpha-L-fucosidase 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:9,706,121...9,720,910
Ensembl chr 1:9,706,094...9,721,706
G
Fut2
fucosyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35255492
NCBI chr 1:105,256,013...105,276,828
Ensembl chr 1:105,255,390...105,276,647
G
Fzd2
frizzled class receptor 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:88,061,988...88,063,898
Ensembl chr10:88,061,667...88,065,396
G
Fzd5
frizzled class receptor 5
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:73,606,860...73,614,039
Ensembl chr 9:73,606,860...73,618,612
G
G0s2
G0/G1switch 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:107,335,036...107,335,948
Ensembl chr13:107,335,036...107,336,293
G
G6pc3
glucose 6 phosphatase catalytic subunit 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:87,647,149...87,651,385
Ensembl chr10:87,647,062...87,653,453
G
Gaa
alpha glucosidase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:105,028,106...105,045,365
Ensembl chr10:105,028,307...105,045,366
G
Gabarapl1
GABA type A receptor associated protein like 1
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 4:164,666,332...164,675,474
Ensembl chr 4:164,666,246...164,674,578
G
Gadd45b
growth arrest and DNA-damage-inducible, beta
ISO
mRNA:increased expression:bronchoalveolar lavage (human) mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375 PMID:32407669
RGD:30296672 RGD:32716422
NCBI chr 7:9,428,689...9,430,991
Ensembl chr 7:9,428,689...9,430,718
G
Galk1
galactokinase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:101,742,067...101,746,244
Ensembl chr10:101,735,061...101,746,258
G
Galnt2
polypeptide N-acetylgalactosaminyltransferase 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr19:69,110,657...69,222,237
Ensembl chr19:69,110,657...69,222,237
G
Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:159,648,592...159,653,377
G
Gas2l3
growth arrest-specific 2 like 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:25,690,929...25,726,806
Ensembl chr 7:25,693,660...25,716,942
G
Gask1b
golgi associated kinase 1B
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:167,345,738...167,410,606
Ensembl chr 2:167,345,809...167,410,603
G
Gata3
GATA binding protein 3
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr17:73,544,234...73,575,670
Ensembl chr17:73,553,548...73,575,670
G
Gbgt1
globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:32,219,370...32,227,737
G
Gch1
GTP cyclohydrolase 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr15:22,884,006...22,917,412
Ensembl chr15:22,884,006...22,917,412
G
Gdf11
growth differentiation factor 11
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:1,896,229...1,909,147
Ensembl chr 7:1,896,229...1,905,222
G
Gfap
glial fibrillary acidic protein
disease_progression
ISO
protein:increased expression:plasma (human) protein:increased expression:serum (human)
RGD
PMID:32546655 PMID:33743046
RGD:127284882 , RGD:127284892
NCBI chr10:88,352,987...88,361,661
Ensembl chr10:88,352,986...88,361,685
G
Ggh
gamma-glutamyl hydrolase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:38,326,747...38,349,655
Ensembl chr 5:38,326,594...38,349,647
G
Gimap4
GTPase, IMAP family member 4
ISO
mRNA:decreased expression:CD4+ T cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 4:78,967,297...78,974,211
Ensembl chr 4:78,967,297...78,974,202
G
Gimap7
GTPase, IMAP family member 7
ISO
mRNA:decreased expression:CD4+ T cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 4:79,001,416...79,005,586
Ensembl chr 4:78,999,384...79,006,756
G
Gldc
glycine decarboxylase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:237,296,753...237,375,620
Ensembl chr 1:237,296,753...237,375,604
G
Gldn
gliomedin
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:63,575,270...63,619,346
Ensembl chr 8:63,575,270...63,619,346
G
Gli1
GLI family zinc finger 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:65,042,237...65,054,888
Ensembl chr 7:65,042,237...65,054,540
G
Glmp
glycosylated lysosomal membrane protein
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:176,092,098...176,095,688
Ensembl chr 2:176,091,839...176,097,208
G
Glrx
glutaredoxin
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:7,073,737...7,083,548
Ensembl chr 2:7,073,759...7,083,543
G
Gnpda1
glucosamine-6-phosphate deaminase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr18:30,416,599...30,428,630
Ensembl chr18:30,416,607...30,428,630
G
Golm1
golgi membrane protein 1
ISO
RGD
PMID:35923315
RGD:401827120
NCBI chr17:4,996,978...5,049,278
Ensembl chr17:4,996,223...5,047,414
G
Gpd2
glycerol-3-phosphate dehydrogenase 2
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 3:62,209,432...62,346,590
Ensembl chr 3:62,210,814...62,346,593
G
Gper1
G protein-coupled estrogen receptor 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:20,331,073...20,336,527
Ensembl chr12:20,327,679...20,337,144
G
Gpnmb
glycoprotein nmb
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:79,341,128...79,362,366
Ensembl chr 4:79,341,021...79,380,240
G
Gpr68
G protein-coupled receptor 68
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:125,865,205...125,895,674
Ensembl chr 6:125,864,942...125,895,674
G
Gpx1
glutathione peroxidase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581
G
Grb10
growth factor receptor bound protein 10
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr14:90,708,653...90,816,399
Ensembl chr14:90,708,653...90,816,387
G
Grhpr
glyoxylate and hydroxypyruvate reductase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:64,029,856...64,039,287
Ensembl chr 5:64,022,368...64,039,276
G
Gstm1
glutathione S-transferase mu 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569
G
Gstm2
glutathione S-transferase mu 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:198,312,179...198,316,962
G
Gsto1
glutathione S-transferase omega 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:256,662,377...256,672,515
Ensembl chr 1:256,662,531...256,676,167
G
Gstt1
glutathione S-transferase theta 1
severity
ISO
DNA:deletion:
RGD
PMID:32454047
RGD:30309963
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019
G
Gstz1
glutathione S-transferase zeta 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:112,525,576...112,536,228
Ensembl chr 6:112,525,377...112,536,233
G
Gtse1
G-2 and S-phase expressed 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:118,829,793...118,846,662
Ensembl chr 7:118,829,903...118,846,661
G
Gzmb
granzyme B
ISO
protein:increased expression:plasma (human)
RGD
PMID:32696007
RGD:38501088
NCBI chr15:34,459,007...34,462,469
Ensembl chr15:34,459,007...34,462,469
G
H1f0
H1.0 linker histone
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:112,473,280...112,475,140
Ensembl chr 7:112,473,222...112,475,006
G
H1f10
H1.10 linker histone
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:121,997,834...121,998,897
Ensembl chr 4:121,997,831...121,998,966
G
Hadha
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:31,907,801...31,947,434
Ensembl chr 6:31,907,291...31,947,698
G
Hadhb
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:31,873,404...31,907,557
Ensembl chr 6:31,873,404...31,907,835
G
Hbp1
HMG-box transcription factor 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 6:54,257,118...54,283,373
Ensembl chr 6:54,256,864...54,283,366
G
Hccs
holocytochrome c synthase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr X:28,505,370...28,514,812
Ensembl chr X:28,505,417...28,514,812
G
Hck
HCK proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33617879
NCBI chr 3:162,031,833...162,074,933
Ensembl chr 3:162,031,817...162,074,935
G
Hdlbp
high density lipoprotein binding protein
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:101,395,491...101,465,446
Ensembl chr 9:101,397,305...101,465,379
G
Heatr4
HEAT repeat containing 4
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:109,305,459...109,338,331
Ensembl chr 6:109,304,557...109,342,693
G
Hebp1
heme binding protein 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:169,705,665...169,735,199
Ensembl chr 4:169,705,668...169,735,199
G
Hexb
hexosaminidase subunit beta
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:30,218,608...30,238,771
Ensembl chr 2:30,218,608...30,238,771
G
Hgf
hepatocyte growth factor
severity
ISO
protein:increased expression:plasma (human) mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226 PMID:32360286
RGD:28912744 , RGD:30309209
NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:19,632,267...19,700,851
G
Hjurp
Holliday junction recognition protein
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:96,301,183...96,315,587
Ensembl chr 9:96,302,530...96,315,657
G
Hk1
hexokinase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,773,220...30,874,814
G
Hmmr
hyaluronan-mediated motility receptor
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:25,635,249...25,665,389
Ensembl chr10:25,635,915...25,665,390
G
Hp
haptoglobin
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518
G
Hrh4
histamine receptor H4
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr18:4,440,977...4,457,132
Ensembl chr18:4,440,977...4,457,132
G
Hsd17b10
hydroxysteroid (17-beta) dehydrogenase 10
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr X:24,568,551...24,571,012
Ensembl chr X:24,568,551...24,574,681
G
Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr18:45,515,427...45,604,467
Ensembl chr18:45,515,373...45,604,467
G
Htra1
HtrA serine peptidase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:194,928,069...194,977,619
Ensembl chr 1:194,927,687...194,977,620
G
Hvcn1
hydrogen voltage-gated channel 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:40,001,205...40,030,671
Ensembl chr12:40,001,498...40,042,020
G
Icam5
intercellular adhesion molecule 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35255492
NCBI chr 8:27,843,563...27,851,767
Ensembl chr 8:27,844,780...27,857,104
G
Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:74,027,887...74,057,442
Ensembl chr 9:74,027,892...74,049,555
G
Ier2
immediate early response 2
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr19:40,399,373...40,400,897
Ensembl chr19:40,398,160...40,402,708
G
Ier3
immediate early response 3
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr20:2,933,173...2,934,377
Ensembl chr20:2,933,174...2,934,377
G
Ifi27l2a
interferon, alpha-inducible protein 27 like 2A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:128,363,658...128,365,144
Ensembl chr 6:128,363,658...128,365,146
G
Ifi44
interferon-induced protein 44
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:243,286,050...243,303,869
Ensembl chr 2:243,286,052...243,306,877
G
Ifih1
interferon induced with helicase C domain 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968
G
Ifit1
interferon-induced protein with tetratricopeptide repeats 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 1:241,565,197...241,567,262
Ensembl chr 1:241,543,184...241,568,148
G
Ifit2
interferon-induced protein with tetratricopeptide repeats 2
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 1:241,515,735...241,521,799
Ensembl chr 1:241,515,709...241,521,798
G
Ifit3
interferon-induced protein with tetratricopeptide repeats 3
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 1:241,527,326...241,532,469
Ensembl chr 1:241,526,880...241,532,521
G
Ifitm2
interferon induced transmembrane protein 2
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 1:205,481,168...205,482,348
G
Ifitm3
interferon induced transmembrane protein 3
severity
ISO
DNA:SNP: (rs12252)(human) mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669 PMID:32348495
RGD:30296672 , RGD:30296684
NCBI chr 1:205,540,649...205,541,758
Ensembl chr 1:205,481,168...205,547,920
G
Ifnar1
interferon alpha and beta receptor subunit 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr11:44,211,769...44,238,206
Ensembl chr11:44,211,845...44,238,205
G
Ifnar2
interferon alpha and beta receptor subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33307546
NCBI chr11:44,099,574...44,131,941
Ensembl chr11:44,099,753...44,131,937
G
Ifnb1
interferon beta 1
treatment
ISO
RGD
PMID:32401715
RGD:30296675
NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:108,066,650...108,067,487
G
Ifng
interferon gamma
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:31986264 PMID:32696007
RGD:30309212 , RGD:38501088
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
G
Ifngr2
interferon gamma receptor 2
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr11:44,265,703...44,283,975
Ensembl chr11:44,265,703...44,283,975
G
Ifnl1
interferon, lambda 1
ameliorates
ISO
human protein in a mouse model
RGD
PMID:32854108
RGD:126848773
NCBI chr 1:92,926,184...92,927,830
G
Iftap
intraflagellar transport associated protein
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:108,242,105...108,361,607
Ensembl chr 3:108,267,132...108,361,573
G
Igfbp2
insulin-like growth factor binding protein 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:81,864,811...81,892,179
Ensembl chr 9:81,864,783...81,892,171
G
Igfbp3
insulin-like growth factor binding protein 3
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr14:86,270,208...86,277,944
Ensembl chr14:86,270,208...86,277,944
G
Igg-2a
gamma-2a immunoglobulin heavy chain
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
G
Igh-6-ps1
immunoglobulin heavy chain 6, pseudogene 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:142,330,406...142,330,997
Ensembl chr 6:142,330,406...142,330,786
G
Ighg1
immunoglobulin heavy constant gamma 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
G
Ighl7
immunoglobulin heavy chain like 7
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:140,727,663...140,728,174
Ensembl chr 6:140,727,663...140,727,980
G
Ighv3-72l1
immunoglobulin heavy variable 3-72 like 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:140,471,258...140,471,820
G
Igkc
immunoglobulin kappa constant
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
G
Igkv8-30l1
immunoglobulin kappa chain variable 8-30 like 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:103,388,274...103,389,121
G
Igkvl-ps13
immunoglobulin kappa variable like, pseudogene 13
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:98,298,232...98,299,135
G
Igll1
immunoglobulin lambda-like polypeptide 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:97,643,059...97,646,441
Ensembl chr11:97,643,187...97,646,438
G
Ikzf2
IKAROS family zinc finger 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:78,495,670...78,640,896
Ensembl chr 9:78,492,275...78,640,463
G
Il10
interleukin 10
severity
ISO
protein:increased expression:plasma (human) CTD Direct Evidence: marker/mechanism associated with cardiovascular system disease;protein:increased expression:blood (human) protein:increased expression:serum (human)
CTD RGD
PMID:31986264 PMID:32161940 PMID:31986264 PMID:32696007 PMID:32456948 PMID:32365221 More...
RGD:30309212 , RGD:38501088 , RGD:30309957 , RGD:30310229
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Il10ra
interleukin 10 receptor subunit alpha
ISO
mRNA:decreased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 8:54,459,754...54,474,786
Ensembl chr 8:54,459,882...54,475,028
G
Il10rb
interleukin 10 receptor subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35255492
NCBI chr11:44,132,471...44,154,062
Ensembl chr11:44,132,189...44,154,053
G
Il13
interleukin 13
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:32360286 PMID:31986264
RGD:30309209 , RGD:30309212
NCBI chr10:38,290,926...38,293,483
Ensembl chr10:38,290,926...38,293,483
G
Il17a
interleukin 17A
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:31986264
RGD:30309212
NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:30,640,844...30,644,331
G
Il18
interleukin 18
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:32360286 PMID:32696007
RGD:30309209 , RGD:38501088
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
G
Il1b
interleukin 1 beta
severity
ISO
protein:increased expression:plasma (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:32171193 PMID:31986264
RGD:30309212
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
G
Il1r1
interleukin 1 receptor type 1
severity
ISO
protein:increased expression:serum: protein:increased expression:plasma (human)
RGD
PMID:32416070 PMID:31986264 PMID:32360286
RGD:30296676 , RGD:30309212 , RGD:30309209
NCBI chr 9:50,000,558...50,076,579
Ensembl chr 9:50,000,566...50,076,579
G
Il1rn
interleukin 1 receptor antagonist
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732
G
Il2
interleukin 2
severity
ISO
protein:increased expression:plasma (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:31986264 PMID:31986264 PMID:32696007
RGD:30309212 , RGD:38501088
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672
G
Il2ra
interleukin 2 receptor subunit alpha
severity
ISO
protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:32026671 PMID:32161940 PMID:32365221 PMID:32164089 PMID:32297828
RGD:30310229 , RGD:36049814 , RGD:32716368
NCBI chr17:71,759,802...71,808,475
Ensembl chr17:71,759,802...71,808,507
G
Il2rb
interleukin 2 receptor subunit beta
severity
ISO
protein:increased expression:serum (human)
RGD
PMID:32297828
RGD:32716368
NCBI chr 7:111,913,828...111,928,537
Ensembl chr 7:111,913,828...111,928,537
G
Il2rg
interleukin 2 receptor subunit gamma
severity
ISO
protein:increased expression:serum (human)
RGD
PMID:32297828
RGD:32716368
NCBI chr X:70,435,340...70,439,052
Ensembl chr X:70,435,343...70,439,161
G
Il4
interleukin 4
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:31986264
RGD:30309212
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549
G
Il4r
interleukin 4 receptor
ISO
mRNA:decreased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:189,544,988...189,570,636
G
Il5ra
interleukin 5 receptor subunit alpha
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human) mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32228226 PMID:32407669
RGD:28912744 RGD:30296672
NCBI chr 4:141,186,749...141,221,348
Ensembl chr 4:141,171,158...141,220,943
G
Il6
interleukin 6
severity disease_progression
ISO
protein:increased expression:serum (human) CTD Direct Evidence: marker/mechanism protein:increased expression:plasma (human) associated with cardiovascular system disease;protein:increased expression:blood (human) associated with diabetes mellitus protein:increased expression:serum:
CTD RGD
PMID:32026671 PMID:32161940 PMID:32171193 PMID:32534021 PMID:32125452 PMID:32696007 PMID:32164089 PMID:32297828 PMID:32434211 PMID:32456948 PMID:32181911 PMID:32365221 PMID:31986264 PMID:32407836 PMID:32427582 PMID:32345579 PMID:32416070 PMID:32227274 More...
RGD:27095965 , RGD:38501088 , RGD:36049814 , RGD:32716368 , RGD:30310238 , RGD:30309957 , RGD:30310230 , RGD:30310229 , RGD:30309212 , RGD:30309206 , RGD:30309200 , RGD:30296681 , RGD:30296676 , RGD:27226695
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
G
Il7
interleukin 7
severity
ISO
protein:increased expression:plasma (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:31986264 PMID:31986264
RGD:30309212
NCBI chr 2:96,142,523...96,186,282
Ensembl chr 2:96,142,092...96,187,389
G
Il7r
interleukin 7 receptor
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:60,179,561...60,204,937
Ensembl chr 2:60,181,382...60,211,027
G
Il9
interleukin 9
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:31986264
RGD:30309212
NCBI chr17:8,117,028...8,120,151
Ensembl chr17:8,117,028...8,120,151
G
Inka1
inka box actin regulator 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:117,552,875...117,554,565
Ensembl chr 8:117,552,875...117,554,565
G
Irf2
interferon regulatory factor 2
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr16:52,171,855...52,283,620
Ensembl chr16:52,164,442...52,282,627
G
Irf4
interferon regulatory factor 4
ISO
mRNA:decreased expression:antibody secreting B cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr17:33,930,460...33,948,842
Ensembl chr17:33,930,471...33,948,730
G
Irf5
interferon regulatory factor 5
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:59,081,357...59,112,552
G
Irf7
interferon regulatory factor 7
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 1:205,796,956...205,800,543
Ensembl chr 1:205,796,959...205,800,023
G
Isg15
ISG15 ubiquitin-like modifier
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 5:172,066,369...172,067,656
Ensembl chr 5:172,066,369...172,067,656
G
Itga1
integrin subunit alpha 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:48,379,181...48,545,336
Ensembl chr 2:48,386,249...48,545,284
G
Itga7
integrin subunit alpha 7
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:1,944,447...1,973,347
Ensembl chr 7:1,944,460...1,973,339
G
Itgb8
integrin subunit beta 8
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:146,267,982...146,351,245
Ensembl chr 6:146,165,484...146,351,245
G
Itm2a
integral membrane protein 2A
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr X:76,559,183...76,565,144
Ensembl chr X:76,559,181...76,565,437
G
Itsn1
intersectin 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:44,464,515...44,646,598
Ensembl chr11:44,513,186...44,646,598
G
Jak2
Janus kinase 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:236,408,662...236,468,762
G
Jchain
joining chain of multimeric IgA and IgM
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr14:19,822,976...19,831,072
Ensembl chr14:19,822,976...19,838,307
G
Jph4
junctophilin 4
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr15:32,549,536...32,558,859
Ensembl chr15:32,549,555...32,558,859
G
Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:114,973,151...115,013,285
G
Kank3
KN motif and ankyrin repeat domains 3
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:15,296,538...15,309,838
Ensembl chr 7:15,296,585...15,311,408
G
Kcne1
potassium voltage-gated channel subfamily E regulatory subunit 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:45,066,875...45,080,024
Ensembl chr11:45,064,162...45,081,247
G
Kcnk13
potassium two pore domain channel subfamily K member 13
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:124,970,363...125,074,919
Ensembl chr 6:124,971,212...125,075,923
G
Kcnma1
potassium calcium-activated channel subfamily M alpha 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr15:351,065...1,057,117
Ensembl chr15:351,659...1,057,117
G
Kcnq1
potassium voltage-gated channel subfamily Q member 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072
G
Kctd3
potassium channel tetramerization domain containing 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:103,041,488...103,080,069
Ensembl chr13:103,041,490...103,080,009
G
Kiaa0930
KIAA0930 homolog
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:117,947,898...117,987,601
Ensembl chr 7:117,947,898...117,987,636
G
Kiaa1958
KIAA1958 homolog
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:79,286,708...79,432,859
Ensembl chr 5:79,286,708...79,432,859
G
Kif11
kinesin family member 11
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:244,494,916...244,589,250
Ensembl chr 1:244,494,875...244,589,250
G
Kif14
kinesin family member 14
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:50,478,646...50,542,256
Ensembl chr13:50,478,721...50,542,248
G
Kif15
kinesin family member 15
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:131,479,340...131,550,209
Ensembl chr 8:131,479,337...131,550,202
G
Kif18b
kinesin family member 18B
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:88,370,520...88,392,388
Ensembl chr10:88,370,524...88,389,691
G
Kif20a
kinesin family member 20A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr18:26,504,422...26,512,908
Ensembl chr18:26,504,072...26,512,909
G
Kif21a
kinesin family member 21A
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:123,942,079...124,058,594
Ensembl chr 7:123,942,081...124,058,540
G
Kif23
kinesin family member 23
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:71,293,439...71,321,911
Ensembl chr 8:71,293,482...71,320,856
G
Kif2c
kinesin family member 2C
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:135,873,925...135,899,267
Ensembl chr 5:135,873,925...135,899,212
G
Kif3a
kinesin family member 3a
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:38,226,388...38,263,062
Ensembl chr10:38,226,741...38,260,516
G
Kif4a
kinesin family member 4A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr X:69,761,803...69,864,335
Ensembl chr X:69,761,883...69,864,335
G
Kifc1
kinesin family member C1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr20:5,000,929...5,018,967
Ensembl chr20:5,000,648...5,018,988
G
Kir3dl1
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:78,756,035...78,796,961
Ensembl chr 1:78,757,394...78,796,715
G
Klf2
KLF transcription factor 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr16:17,555,136...17,557,768
Ensembl chr16:17,555,136...17,557,768
G
Klf4
KLF transcription factor 4
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 5:75,074,107...75,079,182
Ensembl chr 5:75,074,236...75,078,592
G
Klf6
KLF transcription factor 6
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr17:69,449,483...69,458,478
Ensembl chr17:69,441,493...69,498,601
G
Klrb1a
killer cell lectin like receptor B1A
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:163,576,672...163,590,201
Ensembl chr 4:163,576,672...163,619,374
G
Klrg1
killer cell lectin like receptor G1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:157,127,571...157,139,372
Ensembl chr 4:157,127,571...157,139,372
G
Knl1
kinetochore scaffold 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:126,483,498...126,545,774
Ensembl chr 3:126,483,544...126,545,774
G
Knstrn
kinetochore-localized astrin/SPAG5 binding protein
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:126,254,633...126,274,412
Ensembl chr 3:126,254,663...126,274,418
G
Kptn
kaptin (actin binding protein)
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:85,936,922...85,937,716
G
Ky
kyphoscoliosis peptidase
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:111,965,862...112,005,206
Ensembl chr 8:111,965,862...112,005,206
G
Lair1
leukocyte-associated immunoglobulin-like receptor 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:79,140,850...79,261,546
Ensembl chr 1:79,198,311...79,258,037
G
Lama2
laminin subunit alpha 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:19,492,126...20,140,056
Ensembl chr 1:19,244,599...20,140,056
G
Lamc1
laminin subunit gamma 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:67,924,872...68,051,986
Ensembl chr13:67,924,872...68,051,986
G
Lap3
leucine aminopeptidase 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr14:69,820,907...69,839,891
Ensembl chr14:69,820,908...69,839,891
G
Lcn2
lipocalin 2
ISO
protein:increased expression:plasma (human)
RGD
PMID:32696007
RGD:38501088
NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:36,078,436...36,081,842
G
Ldha
lactate dehydrogenase A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:106,508,092...106,517,512
Ensembl chr 1:106,502,182...106,517,521
G
Ldlr
low density lipoprotein receptor
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:28,546,191...28,569,075
Ensembl chr 8:28,546,146...28,570,675
G
Lgals1
galectin 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:112,365,695...112,368,801
Ensembl chr 7:112,361,850...112,368,800
G
Lgals3
galectin 3
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226 PMID:35115644
RGD:28912744 , RGD:151356744
NCBI chr15:23,099,795...23,111,731
Ensembl chr15:23,086,841...23,111,737
G
Lgr6
leucine-rich repeat-containing G protein-coupled receptor 6
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:48,976,193...49,095,870
Ensembl chr13:48,976,193...49,095,857
G
Lhfpl2
LHFPL tetraspan subfamily member 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:27,016,404...27,169,830
Ensembl chr 2:27,016,700...27,162,859
G
Lilrb3
leukocyte immunoglobulin like receptor B3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:79,001,483...79,011,054
Ensembl chr 1:79,001,600...79,010,981
G
Lim2
lens intrinsic membrane protein 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:102,974,188...102,980,358
Ensembl chr 1:102,974,188...102,980,358
G
Lipa
lipase A, lysosomal acid type
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:241,437,524...241,470,936
Ensembl chr 1:241,437,524...241,470,740
G
Llgl2
LLGL scribble cell polarity complex component 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:101,549,911...101,585,466
Ensembl chr10:101,549,862...101,585,464
G
Lmnb1
lamin B1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr18:52,373,939...52,413,284
Ensembl chr18:52,373,757...52,413,283
G
Lmo2
LIM domain only 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:110,810,162...110,832,895
Ensembl chr 3:110,809,912...110,833,075
G
LOC120096085
U4 spliceosomal RNA
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:46,786,790...46,786,930
Ensembl chr12:46,786,790...46,786,930
G
Lpl
lipoprotein lipase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr16:25,596,205...25,621,928
Ensembl chr16:25,596,211...25,622,107
G
Lrfn3
leucine rich repeat and fibronectin type III domain containing 3
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:94,744,315...94,751,001
Ensembl chr 1:94,744,321...94,751,178
G
Lrrc43
leucine rich repeat containing 43
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:38,735,033...38,753,143
Ensembl chr12:38,735,034...38,753,373
G
Lta4h
leukotriene A4 hydrolase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:29,856,846...29,888,642
Ensembl chr 7:29,856,802...29,888,641
G
Ltbp4
latent transforming growth factor beta binding protein 4
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:91,727,769...91,759,822
Ensembl chr 1:91,727,769...91,760,006
G
Lyn
LYN proto-oncogene, Src family tyrosine kinase
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 5:21,437,127...21,553,097
Ensembl chr 5:21,437,084...21,554,461
G
Lysmd2
LysM domain containing 2
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 8:85,259,443...85,274,876
Ensembl chr 8:85,259,410...85,275,241
G
Lztfl1
leucine zipper transcription factor-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32558485 PMID:32998156
NCBI chr 8:132,222,339...132,237,757
Ensembl chr 8:132,222,342...132,237,684
G
Macc1
MET transcriptional regulator MACC1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:146,495,544...146,574,254
Ensembl chr 6:146,495,861...146,574,260
G
Macir
macrophage immunometabolism regulator
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:105,868,072...105,888,128
Ensembl chr 9:105,866,641...105,889,758
G
Mafb
MAF bZIP transcription factor B
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:169,417,890...169,419,810
Ensembl chr 3:169,416,945...169,419,975
G
Mafg
MAF bZIP transcription factor G
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:106,401,633...106,410,159
G
Magee1
MAGE family member E1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr X:74,254,848...74,258,395
Ensembl chr X:74,254,958...74,258,371
G
Maoa
monoamine oxidase A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr X:8,615,239...8,681,372
Ensembl chr X:8,615,239...8,682,631
G
Map3k6
mitogen-activated protein kinase kinase kinase 6
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:150,724,029...150,736,113
Ensembl chr 5:150,724,216...150,736,111
G
Mapk6
mitogen-activated protein kinase 6
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:85,027,141...85,050,236
Ensembl chr 8:85,027,144...85,050,236
G
Marchf1
membrane associated ring-CH-type finger 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr16:28,022,159...28,880,872
Ensembl chr16:28,022,159...28,881,054
G
Marco
macrophage receptor with collagenous structure
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:34,169,011...34,210,340
Ensembl chr13:34,169,011...34,201,255
G
Marveld1
MARVEL domain containing 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:250,903,342...250,907,393
Ensembl chr 1:250,903,342...250,907,393
G
Matcap1
microtubule associated tyrosine carboxypeptidase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr19:50,067,978...50,076,715
Ensembl chr19:50,069,015...50,076,709
G
Matk
megakaryocyte-associated tyrosine kinase
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:9,107,711...9,116,864
Ensembl chr 7:9,107,722...9,112,746
G
Mb
myoglobin
severity
ISO
protein:increased expression:serum (human) associated with hyperglycemia;protein:increased expression:serum (human)
RGD
PMID:32125452 PMID:32406594
RGD:27095965 , RGD:32698682
NCBI chr 7:110,640,511...110,647,742
Ensembl chr 7:110,640,512...110,647,958
G
Mcemp1
mast cell-expressed membrane protein 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:6,519,709...6,523,880
Ensembl chr12:6,517,854...6,523,880
G
Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 2:185,884,840...185,912,532
Ensembl chr 2:185,908,168...185,938,782
G
Mcm10
minichromosome maintenance 10 replication initiation factor
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr17:78,172,049...78,197,644
Ensembl chr17:78,175,398...78,197,636
G
Mcm2
minichromosome maintenance complex component 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:122,903,679...122,918,205
Ensembl chr 4:122,903,682...122,918,094
G
Me1
malic enzyme 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:96,429,057...96,540,244
Ensembl chr 8:96,429,057...96,540,275
G
Mertk
MER proto-oncogene, tyrosine kinase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:136,391,936...136,498,366
Ensembl chr 3:136,383,560...136,500,192
G
Mettl9
methyltransferase 9, His-X-His N1(pi)-histidine
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:185,006,953...185,054,359
Ensembl chr 1:185,006,954...185,054,861
G
Mgat1
alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:34,064,548...34,083,833
Ensembl chr10:34,062,837...34,095,975
G
Mgat4a
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:47,169,229...47,282,577
Ensembl chr 9:47,169,232...47,282,574
G
Mgme1
mitochondrial genome maintenance exonuclease 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:152,094,514...152,103,314
Ensembl chr 3:152,094,658...152,103,313
G
Mgst1
microsomal glutathione S-transferase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:172,760,930...172,776,157
Ensembl chr 4:172,760,886...172,776,875
G
Mib2
MIB E3 ubiquitin protein ligase 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:171,526,037...171,542,479
Ensembl chr 5:171,526,037...171,541,910
G
Micu1
mitochondrial calcium uptake 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr20:28,211,774...28,357,928
Ensembl chr20:28,211,691...28,359,919
G
Milr1
mast cell immunoglobulin-like receptor 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:92,184,002...92,205,001
Ensembl chr10:92,187,479...92,205,003
G
Mki67
marker of proliferation Ki-67
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:199,926,150...199,952,593
G
Mlf1
myeloid leukemia factor 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:153,958,060...153,991,705
Ensembl chr 2:153,958,546...153,994,220
G
Mme
membrane metallo-endopeptidase
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:149,806,826...149,957,381
Ensembl chr 2:149,872,291...149,953,463
G
Mmp1
matrix metallopeptidase 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:32696007
RGD:38501088
NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:12,943,453...12,963,964
G
Mmp19
matrix metallopeptidase 19
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:1,805,732...1,814,054
Ensembl chr 7:1,805,860...1,814,863
G
Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:plasma (human)
RGD
PMID:32696007
RGD:38501088
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856
G
Mmp23
matrix metallopeptidase 23
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:171,521,905...171,525,007
Ensembl chr 5:171,520,494...171,524,695
G
Mmp8
matrix metallopeptidase 8
ISO
protein:increased expression:plasma (human)
RGD
PMID:32696007
RGD:38501088
NCBI chr 8:13,008,873...13,018,729
Ensembl chr 8:13,008,890...13,018,729
G
Mpdu1
mannose-P-dolichol utilization defect 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:54,873,467...54,880,536
Ensembl chr10:54,873,473...54,879,195
G
Mpnd
MPN domain containing
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:926,714...933,620
Ensembl chr 9:925,799...933,616
G
Mrc1
mannose receptor, C type 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr17:82,157,725...82,239,411
Ensembl chr17:82,157,705...82,239,410
G
Mrpl12
mitochondrial ribosomal protein L12
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:106,256,746...106,261,249
Ensembl chr10:106,256,547...106,263,088
G
Mrpl15
mitochondrial ribosomal protein L15
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:19,527,745...19,539,061
Ensembl chr 5:19,524,588...19,538,004
G
Mrpl37
mitochondrial ribosomal protein L37
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:127,056,679...127,075,000
Ensembl chr 5:127,058,716...127,074,980
G
Mrpl51
mitochondrial ribosomal protein L51
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:159,677,988...159,681,650
Ensembl chr 4:159,677,827...159,681,641
G
Ms4a2
membrane spanning 4-domains A2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:217,864,855...217,873,934
Ensembl chr 1:217,865,159...217,873,108
G
Ms4a4a
membrane spanning 4-domains A4A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:217,495,704...217,510,019
Ensembl chr 1:217,487,996...217,510,503
G
Msc
musculin
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:9,330,522...9,336,391
Ensembl chr 5:9,330,544...9,336,857
G
Msr1
macrophage scavenger receptor 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr16:59,421,250...59,507,070
Ensembl chr16:59,421,057...59,507,070
G
Mt-nd6
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,531...14,049
G
Mt1-ps3
metallothionein 1, pseudogene 3
ISO
mRNA:decreased expression:CD14 monocytes (human) mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226 PMID:32377375
RGD:28912744 RGD:32716422
NCBI chr17:79,695,812...79,696,200
Ensembl chr17:79,695,809...79,696,200
G
Mt2
metallothionein 2
ISO
mRNA:decreased expression:CD14 monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr19:10,837,934...10,838,708
Ensembl chr19:10,837,927...10,838,709
G
Mtch2
mitochondrial carrier 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:97,286,388...97,306,028
Ensembl chr 3:97,285,894...97,307,327
G
Mterf2
mitochondrial transcription termination factor 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:20,485,901...20,495,979
Ensembl chr 7:20,485,461...20,548,043
G
Mthfd2
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:117,368,833...117,380,350
Ensembl chr 4:117,368,835...117,380,350
G
Muc1
mucin 1, cell surface associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35255492
NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:176,933,047...176,938,491
G
Mug2
murinoglobulin 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:156,836,140...156,908,972
G
Mybl1
MYB proto-oncogene like 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:14,365,768...14,401,012
Ensembl chr 5:14,365,768...14,399,588
G
Mybl2
MYB proto-oncogene like 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:172,124,765...172,153,221
Ensembl chr 3:172,116,550...172,153,221
G
Myc
MYC proto-oncogene, bHLH transcription factor
ISO
mRNA:decreased expression:CD4+ T cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:95,483,105...95,488,028
G
Mydgf
myeloid-derived growth factor
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:1,086,825...1,095,968
Ensembl chr 9:1,086,825...1,095,968
G
Myh11
myosin heavy chain 11
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:1,250,554...1,345,681
Ensembl chr10:1,263,194...1,345,678
G
Myo1e
myosin IE
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:79,768,828...79,961,048
Ensembl chr 8:79,753,596...79,961,045
G
Myo6
myosin VI
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:89,967,351...90,122,219
Ensembl chr 8:89,967,377...90,122,215
G
Myo7a
myosin VIIA
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365
G
Myof
myoferlin
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:245,086,109...245,234,768
Ensembl chr 1:245,086,109...245,234,768
G
Mzb1
marginal zone B and B1 cell-specific protein
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr18:27,513,087...27,515,148
Ensembl chr18:27,513,089...27,515,182
G
Naga
alpha-N-acetylgalactosaminidase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:115,726,438...115,735,494
Ensembl chr 7:115,726,624...115,736,828
G
Naip6
NLR family, apoptosis inhibitory protein 6
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:33,241,520...33,293,184
Ensembl chr 2:33,241,521...33,276,859
G
Nampt
nicotinamide phosphoribosyltransferase
ISO
mRNA:increased expression:bronchoalveolar lavage (human) mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375 PMID:32407669
RGD:30296672 RGD:32716422
NCBI chr 6:55,152,756...55,189,547
Ensembl chr 6:55,151,926...55,189,544
G
Nap1l2
nucleosome assembly protein 1-like 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr X:72,239,849...72,242,247
Ensembl chr X:72,238,310...72,242,464
G
Nbn
nibrin
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 5:34,256,678...34,291,163
Ensembl chr 5:34,256,627...34,291,162
G
Ncald
neurocalcin delta
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:70,417,683...70,849,763
Ensembl chr 7:70,419,433...70,849,482
G
Ncapg
non-SMC condensin I complex, subunit G
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr14:69,616,473...69,645,445
Ensembl chr14:69,616,473...69,645,445
G
Ncaph
non-SMC condensin I complex, subunit H
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:134,825,271...134,852,502
Ensembl chr 3:134,825,271...134,852,502
G
Ncr3
natural cytotoxicity triggering receptor 3
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr20:3,642,912...3,648,425
Ensembl chr20:3,642,912...3,644,188
G
Ndufaf1
NADH:ubiquinone oxidoreductase complex assembly factor 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:127,089,893...127,104,357
Ensembl chr 3:127,093,659...127,104,020
G
Ndufaf3
NADH:ubiquinone oxidoreductase complex assembly factor 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:118,139,891...118,141,723
Ensembl chr 8:118,139,892...118,141,723
G
Ndufb5
NADH:ubiquinone oxidoreductase subunit B5
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:117,447,605...117,461,943
Ensembl chr 2:117,447,035...117,461,590
G
Ndufs4
NADH:ubiquinone oxidoreductase subunit S4
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:47,684,420...47,794,914
Ensembl chr 2:47,684,406...47,794,931
G
Ndufs7
NADH:ubiquinone oxidoreductase core subunit S7
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:10,103,226...10,110,862
Ensembl chr 7:10,103,227...10,110,691
G
Nectin2
nectin cell adhesion molecule 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:88,500,086...88,535,474
Ensembl chr 1:88,500,087...88,535,305
G
Nefl
neurofilament light chain
severity
ISO
protein:increased expression:plasma (human) protein:increased expression:serum (human) associated with central neurological symptoms;protein:increased expression:CSF (human)
RGD
PMID:32546655 PMID:33377539 PMID:33369818 PMID:33743046
RGD:127284882 , RGD:127285022 , RGD:127284893 , RGD:127284892
NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515
G
Nek2
NIMA-related kinase 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:105,936,809...105,950,054
Ensembl chr13:105,936,788...105,950,056
G
Neo1
neogenin 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:68,169,711...68,322,158
Ensembl chr 8:68,169,716...68,322,152
G
Net1
neuroepithelial cell transforming 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr17:71,251,145...71,280,345
Ensembl chr17:71,251,149...71,289,270
G
Neto2
neuropilin and tolloid like 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr19:37,517,518...37,588,961
Ensembl chr19:37,517,587...37,591,413
G
Nfkbia
NFKB inhibitor alpha
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:78,593,847...78,597,072
G
Niban2
niban apoptosis regulator 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:36,572,356...36,621,968
Ensembl chr 3:36,572,377...36,621,967
G
Ninj1
ninjurin 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr17:15,659,208...15,668,115
Ensembl chr17:15,659,200...15,668,063
G
Nkiras2
NFKB inhibitor interacting Ras-like 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:86,055,029...86,062,398
Ensembl chr10:86,058,285...86,062,392
G
Nln
neurolysin
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:36,867,436...36,966,749
Ensembl chr 2:36,853,551...36,966,680
G
Nme1
NME/NM23 nucleoside diphosphate kinase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:79,403,939...79,426,620
Ensembl chr10:79,403,940...79,413,310
G
Nme7
NME/NM23 family member 7
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr13:79,190,462...79,319,890
Ensembl chr13:79,190,334...79,319,890
G
Nmi
N-myc (and STAT) interactor
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 3:56,824,778...56,848,891
Ensembl chr 3:56,811,314...56,848,717
G
Nog
noggin
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103
G
Nol3
nucleolar protein 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr19:50,066,493...50,068,175
Ensembl chr19:50,063,986...50,068,722
G
Nppb
natriuretic peptide B
severity disease_progression
ISO
associated with hyperglycemia;protein:increased expression:serum (human) associated with diabetes mellitus
RGD
PMID:32434874 PMID:32406594 PMID:32427582 PMID:32345579 PMID:32293449 PMID:32302954 More...
RGD:30296677 , RGD:32698682 , RGD:30309200 , RGD:30296681 , RGD:30296680 , RGD:30296679
NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:163,699,839...163,701,310
G
Nrep
neuronal regeneration related protein
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr18:25,291,219...25,320,742
Ensembl chr18:25,291,219...25,320,742
G
Nrg1
neuregulin 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr16:65,954,084...67,007,484
Ensembl chr16:65,953,865...66,999,849
G
Nrip1
nuclear receptor interacting protein 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:28,382,835...28,466,483
Ensembl chr11:28,378,878...28,467,353
G
Nrp1
neuropilin 1
ISO
protein:increased expression: pancreatic beta cell protein:increased expression:olfactory epithelium
RGD
PMID:34081912 PMID:33082293
RGD:401901164 , RGD:401901165
NCBI chr19:73,256,557...73,411,705
Ensembl chr19:73,256,557...73,411,702
G
Ns5atp4
NS5A transactivated protein 4
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:177,792,070...177,804,943
Ensembl chr 2:177,791,958...177,804,942
G
Nt5dc2
5'-nucleotidase domain containing 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr16:6,328,925...6,336,978
Ensembl chr16:6,328,523...6,336,980
G
Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:175,534,844...175,551,787
G
Ntsr1
neurotensin receptor 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:187,983,778...188,033,934
Ensembl chr 3:187,983,778...188,033,934
G
Nuak1
NUAK family kinase 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:21,217,729...21,289,608
Ensembl chr 7:21,217,681...21,289,354
G
Nudt16
nudix hydrolase 16
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:114,618,706...114,620,761
Ensembl chr 8:114,618,725...114,620,951
G
Nuf2
NUF2 component of NDC80 kinetochore complex
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:84,226,448...84,290,957
Ensembl chr13:84,226,509...84,255,598
G
Oas1a
2'-5' oligoadenylate synthetase 1A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: OAS1 polymorphism
CTD ClinVar
PMID:16014697 PMID:25741868 PMID:28492532 PMID:35835913
NCBI chr12:41,330,423...41,341,130
Ensembl chr12:41,285,211...41,341,128
G
Ocrl
OCRL, inositol polyphosphate-5-phosphatase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr X:131,955,775...132,018,298
Ensembl chr X:131,967,355...132,018,298
G
Olah
oleoyl-ACP hydrolase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr17:79,786,441...79,811,692
Ensembl chr17:79,786,832...79,811,688
G
Olfml2a
olfactomedin-like 2A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:43,098,299...43,127,621
Ensembl chr 3:43,098,299...43,127,621
G
Oplah
5-oxoprolinase (ATP-hydrolysing)
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:109,892,136...109,932,403
Ensembl chr 7:109,891,405...109,915,979
G
Opn3
opsin 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:90,121,560...90,152,076
Ensembl chr13:90,121,560...90,152,076
G
Optn
optineurin
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr17:78,118,847...78,169,543
Ensembl chr17:78,118,866...78,169,543
G
Orc1
origin recognition complex, subunit 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:128,552,975...128,581,943
Ensembl chr 5:128,552,991...128,577,071
G
Osm
oncostatin M
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr14:83,327,202...83,332,073
Ensembl chr14:83,327,554...83,331,827
G
Osmr
oncostatin M receptor
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 2:57,634,517...57,688,802
Ensembl chr 2:57,634,517...57,688,561
G
Ostc
oligosaccharyltransferase complex non-catalytic subunit
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:221,924,727...221,940,253
Ensembl chr 2:221,874,948...221,940,267
G
Otof
otoferlin
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:31,647,869...31,744,476
Ensembl chr 6:31,647,914...31,744,476
G
P2rx4
purinergic receptor P2X 4
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:39,505,438...39,523,349
Ensembl chr12:39,505,438...39,523,094
G
P2ry14
purinergic receptor P2Y14
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 2:145,522,598...145,563,074
Ensembl chr 2:145,516,390...145,564,788
G
Pabpc1
poly(A) binding protein, cytoplasmic 1
ISO
mRNA:decreased expression:antibody secreting B cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 7:69,662,513...69,674,806
Ensembl chr 7:69,663,068...69,675,050
G
Padi2
peptidyl arginine deiminase 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:158,492,087...158,534,662
Ensembl chr 5:158,492,066...158,534,662
G
Pals2
protein associated with LIN7 2, MAGUK p55 family member
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:80,504,298...80,584,951
Ensembl chr 4:80,455,657...80,584,950
G
Papss1
3'-phosphoadenosine 5'-phosphosulfate synthase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:222,646,103...222,788,475
Ensembl chr 2:222,714,487...222,788,670
G
Paqr4
progestin and adipoQ receptor family member 4
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:13,263,559...13,267,237
Ensembl chr10:13,263,559...13,267,173
G
Pax8
paired box 8
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:27,584,000...27,641,094
Ensembl chr 3:27,584,002...27,640,631
G
Pbxip1
PBX homeobox interacting protein 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:177,154,056...177,167,810
Ensembl chr 2:177,154,101...177,167,328
G
Pcbp1
poly(rC) binding protein 1
HEP
mRNA:decreased expression:CD8+ T cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 4:120,530,100...120,532,107
Ensembl chr 4:120,529,172...120,539,111
G
Pcgf5
polycomb group ring finger 5
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 1:243,476,450...243,592,603
Ensembl chr 1:243,476,261...243,587,869
G
Pck2
phosphoenolpyruvate carboxykinase 2 (mitochondrial)
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr15:32,997,853...33,006,691
Ensembl chr15:32,997,834...33,016,864
G
Pdgfb
platelet derived growth factor subunit B
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:31986264
RGD:30309212
NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:113,420,710...113,438,343
G
Pdgfc
platelet derived growth factor C
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:168,613,409...168,791,575
Ensembl chr 2:168,614,353...168,791,573
G
Pdgfd
platelet derived growth factor D
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:11,773,335...12,007,277
Ensembl chr 8:11,773,475...12,007,271
G
Pdia5
protein disulfide isomerase family A, member 5
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:78,777,436...78,892,370
Ensembl chr11:78,777,419...78,864,329
G
Pdss1
decaprenyl diphosphate synthase subunit 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr17:89,964,768...90,006,819
Ensembl chr17:89,968,034...90,006,817
G
Pdzd4
PDZ domain containing 4
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr X:156,681,717...156,712,031
Ensembl chr X:156,681,717...156,713,028
G
Per3
period circadian regulator 3
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:166,740,914...166,778,243
Ensembl chr 5:166,743,050...166,777,999
G
Pgd
phosphogluconate dehydrogenase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:164,865,830...164,882,029
Ensembl chr 5:164,865,830...164,882,029
G
Pgm2
phosphoglucomutase 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr14:44,519,906...44,553,420
Ensembl chr14:44,519,906...44,553,770
G
Phactr1
phosphatase and actin regulator 1
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr17:21,769,006...22,246,227
Ensembl chr17:21,768,662...22,244,586
G
Phactr2
phosphatase and actin regulator 2
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 1:9,411,412...9,680,648
Ensembl chr 1:9,418,085...9,680,583
G
Phactr4
phosphatase and actin regulator 4
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 5:149,828,716...149,904,955
Ensembl chr 5:149,833,367...149,905,187
G
Pheta2
PH domain containing endocytic trafficking adaptor 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:115,735,499...115,741,988
Ensembl chr 7:115,734,649...115,742,461
G
Phlda2
pleckstrin homology-like domain, family A, member 2
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 1:208,126,302...208,127,241
Ensembl chr 1:208,126,302...208,127,920
G
Pim1
Pim-1 proto-oncogene, serine/threonine kinase
ISO
mRNA:decreased expression:CD4+ T cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr20:7,556,496...7,560,747
Ensembl chr20:7,556,113...7,561,764
G
Pkm
pyruvate kinase M1/2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:68,949,731...68,975,394
Ensembl chr 8:68,948,815...68,975,396
G
Pkmyt1
protein kinase, membrane associated tyrosine/threonine 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:13,252,805...13,263,584
Ensembl chr10:13,252,816...13,264,263
G
Pla2g15
phospholipase A2, group XV
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr19:50,960,568...50,977,948
Ensembl chr19:50,960,598...50,977,946
G
Plbd1
phospholipase B domain containing 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:171,204,198...171,260,488
Ensembl chr 4:171,204,198...171,260,488
G
Pld3
phospholipase D family, member 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:91,949,465...91,971,834
Ensembl chr 1:91,949,467...91,961,207
G
Plekha1
pleckstrin homology domain containing A1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:194,858,239...194,909,418
Ensembl chr 1:194,851,547...194,909,413
G
Plekhn1
pleckstrin homology domain containing N1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:172,087,524...172,095,566
Ensembl chr 5:172,087,055...172,095,374
G
Plg
plasminogen
treatment
ISO
RGD
PMID:32275753
RGD:30309215
NCBI chr 1:50,872,927...50,915,406
Ensembl chr 1:50,872,926...50,917,320
G
Plk1
polo-like kinase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:186,147,658...186,157,637
Ensembl chr 1:186,147,658...186,157,637
G
Plk3
polo-like kinase 3
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 5:135,843,725...135,848,900
Ensembl chr 5:135,843,725...135,848,900
G
Plp2
proteolipid protein 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr X:17,506,153...17,509,552
Ensembl chr X:17,506,059...17,509,550
G
Plscr1
phospholipid scramblase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35255492
NCBI chr 8:101,662,512...101,684,474
Ensembl chr 8:101,664,056...101,684,614
G
Pmaip1
phorbol-12-myristate-13-acetate-induced protein 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human) mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375 PMID:32407669
RGD:30296672 RGD:32716422
NCBI chr18:62,255,970...62,262,384
Ensembl chr18:62,255,598...62,262,382
G
Pnp
purine nucleoside phosphorylase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr15:26,644,147...26,651,808
Ensembl chr15:26,643,858...26,678,162
G
Pnrc1
proline-rich nuclear receptor coactivator 1
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 5:52,443,400...52,489,303
Ensembl chr 5:52,443,400...52,446,491
G
Polq
DNA polymerase theta
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:77,179,190...77,281,270
Ensembl chr11:77,179,209...77,281,268
G
Pomp
proteasome maturation protein
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:12,198,262...12,212,132
Ensembl chr12:12,198,263...12,210,880
G
Pparg
peroxisome proliferator-activated receptor gamma
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:150,095,787...150,221,104
G
Ppargc1b
PPARG coactivator 1 beta
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr18:57,029,264...57,131,466
Ensembl chr18:57,029,275...57,131,466
G
Ppbp
pro-platelet basic protein
ISO
mRNA:decreased expression:CD8+ T cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr14:17,586,495...17,587,299
Ensembl chr14:17,586,495...17,587,299
G
Ppdpf
pancreatic progenitor cell differentiation and proliferation factor
ISO
mRNA:decreased expression:CD8+ T cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 3:188,676,821...188,678,599
Ensembl chr 3:188,676,965...188,678,599
G
Ppif
peptidylprolyl isomerase F
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr16:1,264,001...1,270,722
Ensembl chr16:1,263,541...1,316,954
G
Ppp1r15b
protein phosphatase 1, regulatory subunit 15B
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr13:47,130,000...47,137,805
Ensembl chr13:47,129,967...47,137,798
G
Ppt1
palmitoyl-protein thioesterase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:140,406,318...140,427,201
Ensembl chr 5:140,406,214...140,427,200
G
Prdm1
PR/SET domain 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr20:49,542,465...49,564,088
Ensembl chr20:49,542,465...49,564,088
G
Prdm8
PR/SET domain 8
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr14:11,708,477...11,728,111
Ensembl chr14:11,708,269...11,715,125
G
Prdx1
peroxiredoxin 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:135,383,906...135,399,504
Ensembl chr 5:135,383,906...135,399,504
G
Prdx3
peroxiredoxin 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:269,987,691...270,000,111
Ensembl chr 1:269,987,685...270,000,300
G
Prelid1
PRELI domain containing 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr17:9,310,471...9,313,511
Ensembl chr17:9,310,472...9,313,531
G
Prr11
proline rich 11
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:72,396,127...72,440,643
Ensembl chr10:72,398,667...72,418,275
G
Prrt4
proline-rich transmembrane protein 4
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:58,731,447...58,742,408
Ensembl chr 4:58,730,947...58,740,689
G
Prss23
serine protease 23
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:152,815,301...152,835,005
Ensembl chr 1:152,813,670...152,947,871
G
Prss57
serine protease 57
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:10,563,477...10,573,617
Ensembl chr 7:10,568,091...10,573,589
G
Psen2
presenilin 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:94,499,451...94,528,419
Ensembl chr13:94,499,928...94,525,116
G
Psmb2
proteasome 20S subunit beta 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:144,255,058...144,287,200
Ensembl chr 5:144,255,026...144,287,608
G
Psmb7
proteasome 20S subunit beta 7
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:42,767,500...42,827,470
Ensembl chr 3:42,767,501...42,827,601
G
Psmb8
proteasome 20S subunit beta 8
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr20:4,654,068...4,657,049
Ensembl chr20:4,654,068...4,657,031
G
Ptch1
patched 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461
G
Ptgdr
prostaglandin D2 receptor
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr15:19,790,499...19,797,873
Ensembl chr15:19,790,499...19,797,873
G
Ptgdr2
prostaglandin D2 receptor 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:217,010,183...217,015,044
Ensembl chr 1:216,995,629...217,022,393
G
Ptgfrn
prostaglandin F2 receptor inhibitor
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:191,158,166...191,233,432
Ensembl chr 2:191,158,166...191,234,115
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320
G
Ptpro
protein tyrosine phosphatase, receptor type, O
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:171,895,104...172,105,911
Ensembl chr 4:171,895,232...172,105,903
G
Ptprs
protein tyrosine phosphatase, receptor type, S
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:1,332,558...1,394,161
Ensembl chr 9:1,332,559...1,394,093
G
Pycr1
pyrroline-5-carboxylate reductase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:106,416,056...106,420,982
Ensembl chr10:106,412,576...106,423,393
G
Rab11fip5
RAB11 family interacting protein 5
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:119,428,766...119,466,277
Ensembl chr 4:119,428,766...119,466,213
G
Rab13
RAB13, member RAS oncogene family
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:177,972,535...177,977,679
Ensembl chr 2:177,972,372...177,977,684
G
Rab20
RAB20, member RAS oncogene family
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr16:84,721,427...84,745,610
Ensembl chr16:84,721,427...84,745,610
G
Raph1
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:69,397,272...69,484,174
Ensembl chr 9:69,401,517...69,484,019
G
Rasgef1b
RasGEF domain family, member 1B
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr14:10,164,366...10,684,184
Ensembl chr14:10,644,521...10,697,296
G
Rbbp8
RB binding protein 8, endonuclease
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr18:3,198,188...3,263,643
Ensembl chr18:3,197,310...3,263,985
G
Reeld1
reeler domain containing 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr19:46,045,839...46,064,267
G
Renbp
renin binding protein
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr X:156,812,785...156,821,860
Ensembl chr X:156,812,411...156,821,838
G
Retn
resistin
ISO
protein:increased expression:plasma (human)
RGD
PMID:32696007
RGD:38501088
NCBI chr12:6,508,653...6,511,115
Ensembl chr12:6,508,801...6,511,116
G
Rgs1
regulator of G-protein signaling 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr13:58,568,844...58,573,187
Ensembl chr13:58,568,844...58,573,187
G
Rgs16
regulator of G-protein signaling 16
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:68,421,480...68,443,312
Ensembl chr13:68,438,120...68,443,313
G
Rhebl1
RHEB like 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:131,905,207...131,910,088
Ensembl chr 7:131,905,207...131,909,199
G
Rhob
ras homolog family member B
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 6:37,083,030...37,085,204
Ensembl chr 6:37,075,015...37,112,772
G
Rhobtb3
Rho-related BTB domain containing 3
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:7,094,972...7,201,507
Ensembl chr 2:7,095,253...7,150,906
G
Rmi1
RecQ mediated genome instability 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr17:6,261,961...6,269,947
Ensembl chr17:6,260,896...6,282,052
G
Rn5-8s
5.8S ribosomal RNA
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:237,779...237,934
Ensembl chr11:237,781...237,933
G
Rn7sl1
RNA component of signal recognition particle 7SL1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:93,372,872...93,373,170
Ensembl chr 6:93,372,868...93,373,167
G
Rnase1
ribonuclease A family member 1, pancreatic
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr15:26,835,436...26,837,145
Ensembl chr15:26,835,463...26,837,248
G
Rnase2
ribonuclease A family member 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr15:26,923,125...26,923,934
Ensembl chr15:26,923,134...26,923,955
G
Rnase3
ribonuclease A family member 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr15:26,985,399...26,986,269
Ensembl chr15:26,985,271...26,986,400
G
Rnf138
ring finger protein 138
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr18:12,558,430...12,590,849
Ensembl chr18:12,566,502...12,590,848
G
Rnf19b
ring finger protein 19B
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 5:146,690,453...146,715,729
Ensembl chr 5:146,690,577...146,714,394
G
Rnvu1-7l1
RNA, variant U1 small nuclear 7 like 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr18:82,176,131...82,176,273
Ensembl chr18:82,176,131...82,176,273
G
Rogdi
rogdi atypical leucine zipper
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:11,074,288...11,078,907
Ensembl chr10:11,074,262...11,078,906
G
Rph3a
rabphilin 3A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:41,203,004...41,279,536
Ensembl chr12:41,200,089...41,279,531
G
Rpl26l1
ribosomal protein L26 like 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:17,024,807...17,029,028
G
Rps6ka5
ribosomal protein S6 kinase A5
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:125,558,434...125,736,576
Ensembl chr 6:125,558,434...125,735,856
G
Rras
RAS related
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:104,637,061...104,640,841
Ensembl chr 1:104,634,951...104,640,841
G
Rrm2
ribonucleotide reductase regulatory subunit M2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:47,044,755...47,075,370
Ensembl chr 6:47,067,690...47,075,370
G
Rsad2
radical S-adenosyl methionine domain containing 2
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 6:48,774,985...48,788,245
Ensembl chr 6:48,774,985...48,788,320
G
Rsbn1l
round spermatid basic protein 1-like
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 4:15,014,405...15,093,287
Ensembl chr 4:15,031,173...15,093,286
G
RT1-Bb
RT1 class II, locus Bb
ISO
mRNA:decreased expression:memory B cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
G
RT1-CE16
RT1 class I, locus CE16
ISO
mRNA:decreased expression:antibody secreting B cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr20:3,261,656...3,265,548
G
RT1-Db1
RT1 class II, locus Db1
ISO
mRNA:decreased expression:memory B cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165
G
Runx3
RUNX family transcription factor 3
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:152,644,270...152,702,835
Ensembl chr 5:152,644,270...152,702,835
G
S100a11
S100 calcium binding protein A11
ISO
mRNA:decreased expression:CD4+ T cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 2:181,875,132...181,880,542
Ensembl chr 2:181,875,130...181,880,541
G
S1pr1
sphingosine-1-phosphate receptor 1
ISO
mRNA:decreased expression:CD8+ T cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 2:206,309,715...206,314,070
Ensembl chr 2:205,900,836...206,328,689
G
S1pr5
sphingosine-1-phosphate receptor 5
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:28,062,841...28,068,013
Ensembl chr 8:28,061,752...28,068,389
G
Samsn1
SAM domain, SH3 domain and nuclear localization signals, 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr11:27,971,565...28,021,944
Ensembl chr11:27,970,564...28,021,944
G
Sap30
Sin3A associated protein 30
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr16:37,758,494...37,763,825
Ensembl chr16:37,757,656...37,763,823
G
Sapcd2
suppressor APC domain containing 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:28,583,615...28,590,694
Ensembl chr 3:28,585,416...28,591,389
G
Sat1
spermidine/spermine N1-acetyl transferase 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human) mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375 PMID:32407669
RGD:30296672 RGD:32716422
NCBI chr X:44,008,089...44,011,376
Ensembl chr X:44,006,781...44,011,374
G
Scarb2
scavenger receptor class B, member 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr14:15,842,583...15,894,123
Ensembl chr14:15,842,515...15,896,671
G
Scarna21
small Cajal body-specific RNA 21
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:54,569,767...54,569,906
Ensembl chr10:54,569,767...54,569,906
G
Scd
stearoyl-CoA desaturase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:253,218,968...253,232,101
Ensembl chr 1:253,218,970...253,231,785
G
Scimp
SLP adaptor and CSK interacting membrane protein
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:56,006,243...56,026,357
Ensembl chr10:56,006,243...56,026,357
G
Scpep1
serine carboxypeptidase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:74,200,491...74,230,107
Ensembl chr10:74,200,491...74,230,241
G
Sdc1
syndecan 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:37,282,041...37,304,503
Ensembl chr 6:37,297,010...37,304,500
G
Sdc4
syndecan 4
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:173,574,239...173,592,923
Ensembl chr 3:173,574,239...173,593,670
G
Sdhd
succinate dehydrogenase complex subunit D
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:59,841,090...59,850,641
G
Sec11a
SEC11 homolog A, signal peptidase complex subunit
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:144,290,680...144,318,658
Ensembl chr 1:144,284,497...144,324,009
G
Sec23b
Sec23 homolog B, COPII coat complex component
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:152,392,340...152,434,813
Ensembl chr 3:152,392,308...152,434,800
G
Sele
selectin E
severity
ISO
mRNA,protein:increased expression:plasma (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:35255492 PMID:32458111
RGD:32716385
NCBI chr13:78,935,997...78,945,905
Ensembl chr13:78,936,036...78,945,903
G
Sell
selectin L
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr13:78,950,100...78,969,604
Ensembl chr13:78,950,015...78,969,600
G
Selplg
selectin P ligand
ISO
mRNA:decreased expression:CD4+ T cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr12:48,457,102...48,470,444
Ensembl chr12:48,456,932...48,473,154
G
Sema4c
semaphorin 4C
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:46,287,540...46,298,041
Ensembl chr 9:46,287,542...46,297,998
G
Sema6b
semaphorin 6B
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:1,038,103...1,055,063
Ensembl chr 9:1,038,103...1,048,868
G
Septin10
septin 10
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr20:27,644,862...27,737,817
Ensembl chr20:27,643,876...27,737,902
G
Serpina1
serpin family A member 1
ISO
ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19)
ClinVar
PMID:301355 PMID:1087161 PMID:1608473 PMID:1889260 PMID:2339709 PMID:2567291 PMID:2575668 PMID:2696185 PMID:2700304 PMID:2904702 PMID:2989709 PMID:3257660 PMID:3264419 PMID:3484754 PMID:3500183 PMID:3537008 PMID:3875547 PMID:6093867 PMID:6306478 PMID:6602622 PMID:7045697 PMID:7227484 PMID:7977369 PMID:8889441 PMID:8970361 PMID:9195389 PMID:9569237 PMID:10194472 PMID:11778003 PMID:12034572 PMID:14522813 PMID:15454649 PMID:15711957 PMID:15978931 PMID:15994391 PMID:16608528 PMID:17964515 PMID:18187064 PMID:18294358 PMID:18340647 PMID:18414213 PMID:18515255 PMID:18565211 PMID:18566672 PMID:19083091 PMID:19398551 PMID:19444872 PMID:19738092 PMID:19956452 PMID:20301692 PMID:20981092 PMID:21067581 PMID:21228398 PMID:21637600 PMID:21960536 PMID:22426792 PMID:22735536 PMID:22912729 PMID:22933512 PMID:22971141 PMID:22975760 PMID:23484243 PMID:23632999 PMID:23837941 PMID:23858502 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24328305 PMID:24428606 PMID:24518491 PMID:24592811 PMID:25181470 PMID:25454901 PMID:25637381 PMID:25738741 PMID:25741868 PMID:25966443 PMID:26141072 PMID:26243289 PMID:26304913 PMID:26310624 PMID:26647313 PMID:26672964 PMID:26771213 PMID:26831755 PMID:26987331 PMID:27153395 PMID:27246852 PMID:27465791 PMID:27535533 PMID:27959697 PMID:28146470 PMID:28492532 PMID:29083408 PMID:29153744 PMID:29232161 PMID:29431110 PMID:29460271 PMID:29618937 PMID:29644095 PMID:29882371 PMID:30068317 PMID:30068662 PMID:30254761 PMID:30585791 PMID:30739910 PMID:31028937 PMID:31216405 PMID:31447099 PMID:31564432 PMID:31980526 PMID:32087139 PMID:32699024 PMID:33144682 PMID:33726816 PMID:34408828 PMID:34408829 More...
NCBI chr 6:128,631,101...128,653,125
Ensembl chr 6:128,619,382...128,660,703
G
Serpinb10
serpin family B member 10
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:24,067,971...24,085,814
Ensembl chr13:24,068,040...24,085,802
G
Serpinf2
serpin family F member 2
severity
ISO
DNA:SNP: :
RGD
PMID:32747830
RGD:38500238
NCBI chr10:60,770,698...60,778,782
Ensembl chr10:60,770,698...60,778,996
G
Serping1
serpin family G member 1
severity
ISO
DNA:SNP: :
RGD
PMID:32747830
RGD:38500238
NCBI chr 3:90,249,410...90,259,299
Ensembl chr 3:90,249,423...90,258,717
G
Sgcd
sarcoglycan, delta
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:31,847,713...32,829,554
Ensembl chr10:31,781,748...32,419,064
G
Sgk1
serum/glucocorticoid regulated kinase 1
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 1:24,799,391...24,916,886
Ensembl chr 1:24,799,396...24,807,231
G
Sh2d2a
SH2 domain containing 2A
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:175,610,127...175,616,685
Ensembl chr 2:175,609,874...175,616,685
G
Sh2d4a
SH2 domain containing 4A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr16:26,106,721...26,176,069
Ensembl chr16:26,106,730...26,175,974
G
Sh3pxd2b
SH3 and PX domains 2B
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:17,422,906...17,538,977
Ensembl chr10:17,422,947...17,512,854
G
Shcbp1
SHC binding and spindle associated 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr16:91,373,843...91,405,409
Ensembl chr16:91,373,871...91,405,409
G
Shmt1
serine hydroxymethyltransferase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:45,968,959...45,990,341
Ensembl chr10:45,960,434...45,997,326
G
Shroom1
shroom family member 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:38,121,971...38,134,832
Ensembl chr10:38,122,500...38,132,435
G
Sigirr
single Ig and TIR domain containing
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:205,625,742...205,637,883
Ensembl chr 1:205,627,708...205,637,802
G
Sil1
SIL1 nucleotide exchange factor
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr18:27,146,526...27,378,459
Ensembl chr18:27,146,527...27,307,693
G
Ska1
spindle and kinetochore associated complex subunit 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr18:70,069,957...70,080,303
Ensembl chr18:70,069,957...70,080,398
G
Slamf7
SLAM family member 7
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr13:86,668,060...86,688,222
Ensembl chr13:86,668,060...86,686,341
G
Slc16a1
solute carrier family 16 member 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:194,805,556...194,832,966
Ensembl chr 2:194,812,502...194,832,977
G
Slc16a8
solute carrier family 16 member 8
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:112,698,701...112,702,496
Ensembl chr 7:112,698,701...112,702,496
G
Slc1a3
solute carrier family 1 member 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:59,482,707...59,557,808
Ensembl chr 2:59,482,709...59,557,808
G
Slc1a5
solute carrier family 1 member 5
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:86,584,949...86,599,052
Ensembl chr 1:86,584,949...86,599,054
G
Slc1a7
solute carrier family 1 member 7
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:127,959,769...128,003,899
Ensembl chr 5:127,959,769...128,003,899
G
Slc22a16
solute carrier family 22 member 16
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr20:45,527,275...45,647,675
Ensembl chr20:45,527,315...45,648,475
G
Slc25a29
solute carrier family 25 member 29
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:133,506,403...133,517,322
Ensembl chr 6:133,506,331...133,517,827
G
Slc30a4
solute carrier family 30 member 4
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:130,206,852...130,228,888
Ensembl chr 3:130,206,852...130,228,888
G
Slc35a5
solute carrier family 35, member A5
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:69,159,435...69,180,503
Ensembl chr11:69,159,384...69,180,502
G
Slc38a7
solute carrier family 38, member 7
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr19:9,215,336...9,231,592
Ensembl chr19:9,215,383...9,231,589
G
Slc39a11
solute carrier family 39, member 11
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:98,775,155...99,196,302
Ensembl chr10:98,776,525...99,107,368
G
Slc43a3
solute carrier family 43, member 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:90,414,822...90,450,654
Ensembl chr 3:90,415,977...90,436,976
G
Slc45a3
solute carrier family 45, member 3
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:45,959,467...45,979,763
Ensembl chr13:45,959,467...45,979,763
G
Slc4a4
solute carrier family 4 member 4
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr14:19,125,394...19,577,379
Ensembl chr14:19,129,264...19,577,435
G
Slco4a1
solute carrier organic anion transporter family, member 4a1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:187,936,735...187,955,873
Ensembl chr 3:187,936,820...187,955,871
G
Slfn9
schlafen family member 9
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:68,406,641...68,420,062
Ensembl chr10:68,406,642...68,421,134
G
Slitrk4
SLIT and NTRK-like family, member 4
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr X:147,728,163...147,755,086
Ensembl chr X:147,727,983...147,755,557
G
Smad1
SMAD family member 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr19:45,417,430...45,477,962
Ensembl chr19:45,417,433...45,477,957
G
Smarcd3
SWI/SNF related BAF chromatin remodeling complex subunit D3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:11,441,142...11,472,781
Ensembl chr 4:11,441,157...11,472,781
G
Smchd1
structural maintenance of chromosomes flexible hinge domain containing 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 9:118,690,050...118,837,281
Ensembl chr 9:118,690,057...118,833,452
G
Smtn
smoothelin
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr14:82,622,223...82,644,525
Ensembl chr14:82,621,375...82,644,514
G
Snapin
SNAP-associated protein
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:178,269,157...178,271,746
Ensembl chr 2:178,269,166...178,272,041
G
Snora73b
small nucleolar RNA, H/ACA box 73b
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:149,829,190...149,829,393
Ensembl chr 5:149,829,190...149,829,393
G
Snora75
small nucleolar RNA, H/ACA box 75
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:94,448,219...94,448,355
Ensembl chr 9:94,448,219...94,448,355
G
Snx10
sorting nexin 10
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 4:81,943,262...82,007,667
Ensembl chr 4:81,943,287...82,007,651
G
Snx3
sorting nexin 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr20:47,574,051...47,607,577
Ensembl chr20:47,574,900...47,615,430
G
Snx32
sorting nexin 32
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:212,231,716...212,248,127
Ensembl chr 1:212,228,992...212,248,071
G
Snx8
sorting nexin 8
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:19,365,746...19,414,333
Ensembl chr12:19,365,755...19,414,332
G
Sort1
sortilin 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:198,609,466...198,690,481
Ensembl chr 2:198,612,148...198,690,481
G
Sowahd
sosondowah ankyrin repeat domain family member D
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr X:121,157,720...121,159,350
Ensembl chr X:121,157,720...121,159,342
G
Sox13
SRY-box transcription factor 13
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:47,383,145...47,427,572
Ensembl chr13:47,383,145...47,435,663
G
Spag5
sperm associated antigen 5
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:63,693,300...63,714,813
Ensembl chr10:63,696,466...63,714,811
G
Spats2l
spermatogenesis associated, serine-rich 2-like
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:66,814,217...66,988,084
Ensembl chr 9:66,814,228...66,988,578
G
Spon1
spondin 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:177,363,526...177,662,689
Ensembl chr 1:177,363,197...177,662,676
G
Spr
sepiapterin reductase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:119,229,447...119,233,320
Ensembl chr 4:119,229,447...119,233,179
G
Spry2
sprouty RTK signaling antagonist 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr15:89,106,809...89,111,926
Ensembl chr15:89,103,731...89,115,074
G
Sptlc2
serine palmitoyltransferase, long chain base subunit 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:112,679,623...112,762,470
Ensembl chr 6:112,679,623...112,762,640
G
Sqor
sulfide quinone oxidoreductase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:130,294,783...130,341,655
Ensembl chr 3:130,292,814...130,340,799
G
Srd5a1
steroid 5 alpha-reductase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:35,514,914...35,548,898
Ensembl chr 1:35,514,846...35,548,903
G
Srgap1
SLIT-ROBO Rho GTPase activating protein 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:59,215,007...59,479,600
Ensembl chr 7:59,215,007...59,656,213
G
Ssb
small RNA binding exonuclease protection factor La
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 3:75,024,385...75,034,016
Ensembl chr 3:75,024,474...75,034,031
G
St14
ST14 transmembrane serine protease matriptase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:37,798,994...37,839,881
Ensembl chr 8:37,798,995...37,855,652
G
St8sia6
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr17:81,649,866...81,847,970
Ensembl chr17:81,653,687...81,792,732
G
Stac3
SH3 and cysteine rich domain 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:65,227,151...65,235,884
Ensembl chr 7:65,228,352...65,235,878
G
Stard13
StAR-related lipid transfer domain containing 13
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:5,401,878...5,797,937
Ensembl chr12:5,401,995...5,794,967
G
Stat1
signal transducer and activator of transcription 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:56,911,523...57,077,346
G
Steap3
STEAP3 metalloreductase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr13:33,904,710...33,950,100
Ensembl chr13:33,904,710...33,950,080
G
Stil
STIL, centriolar assembly protein
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:133,757,598...133,810,493
Ensembl chr 5:133,760,417...133,810,494
G
Sts
steroid sulfatase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr X:46,102,524...46,110,868
Ensembl chr X:46,102,548...46,111,104
G
Stt3a
STT3 oligosaccharyltransferase complex catalytic subunit A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:44,632,473...44,671,960
Ensembl chr 8:44,632,473...44,672,226
G
Sult1a1
sulfotransferase family 1A member 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:190,702,592...190,706,112
Ensembl chr 1:190,702,592...190,706,131
G
Syn2
synapsin II
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:149,858,919...150,016,845
Ensembl chr 4:149,851,520...150,019,650
G
Sytl2
synaptotagmin-like 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:153,685,403...153,791,758
Ensembl chr 1:153,665,327...153,791,756
G
Tagap
T-cell activation RhoGTPase activating protein
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 1:49,575,750...49,584,747
Ensembl chr 1:49,575,750...49,583,838
G
Tank
TRAF family member-associated NFKB activator
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 3:66,522,834...66,598,864
Ensembl chr 3:66,537,175...66,598,864
G
Tbc1d2
TBC1 domain family, member 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:65,679,670...65,727,978
Ensembl chr 5:65,679,680...65,726,996
G
Tbl2
transducin (beta)-like 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:27,154,150...27,168,446
Ensembl chr12:27,154,150...27,168,446
G
Tcl1a
Tcl1 family Akt coactivator A
ISO
mRNA:decreased expression:memory B cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 6:129,889,763...129,895,756
Ensembl chr 6:129,887,703...129,896,264
G
Tcn2
transcobalamin 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr14:83,036,935...83,052,187
Ensembl chr14:83,036,935...83,051,552
G
Tdrd9
tudor domain containing 9
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:136,850,797...136,966,225
Ensembl chr 6:136,850,812...136,966,225
G
Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19)
ClinVar
PMID:28492532
NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111
G
Tex2
testis expressed 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:91,936,390...92,046,360
Ensembl chr10:91,936,390...92,045,944
G
Tfdp2
transcription factor Dp-2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:105,640,018...105,781,026
Ensembl chr 8:105,640,033...105,781,001
G
Tgfbr3
transforming growth factor beta receptor 3
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr14:2,634,294...2,810,269
Ensembl chr14:2,634,188...2,810,271
G
Thbs1
thrombospondin 1
ISO
protein:increased expression:plasma (human)
RGD
PMID:32696007
RGD:38501088
NCBI chr 3:125,510,250...125,525,402
Ensembl chr 3:125,510,250...125,525,402
G
Ticrr
TOPBP1-interacting checkpoint and replication regulator
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:143,006,989...143,048,836
Ensembl chr 1:143,006,924...143,049,133
G
Timm8b
translocase of inner mitochondrial membrane 8 homolog B
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:59,850,737...59,852,117
Ensembl chr 8:59,850,728...59,852,962
G
Timp1
TIMP metallopeptidase inhibitor 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr X:3,766,509...3,772,578
Ensembl chr X:3,766,510...3,771,135
G
Timp4
TIMP metallopeptidase inhibitor 4
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:149,978,667...149,985,350
Ensembl chr 4:149,978,685...149,985,452
G
Tjp3
tight junction protein 3
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:9,078,757...9,097,003
Ensembl chr 7:9,084,315...9,096,984
G
Tk1
thymidine kinase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:103,533,449...103,544,818
Ensembl chr10:103,533,449...103,556,228
G
Tk2
thymidine kinase 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr19:713,043...737,345
Ensembl chr19:715,318...738,355
G
Tlr2
toll-like receptor 2
ISO
ClinVar Annotator: match by term: COVID-19–associated multisystem inflammatory syndrome in adults
ClinVar
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
G
Tlr4
toll-like receptor 4
ISO
ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease COVID-19
ClinVar
PMID:10835634 PMID:12124407 PMID:15547160 PMID:15829498 PMID:16879199 PMID:17704786 PMID:25741868 PMID:26079505 PMID:26174031 More...
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
G
Tlr7
toll-like receptor 7
severity
ISO
DNA:SNPs:Cds:
RGD
PMID:33650967
RGD:127284891
NCBI chr X:30,644,324...30,670,796
Ensembl chr X:30,644,355...30,672,151
G
Tmem106a
transmembrane protein 106A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:87,007,144...87,016,161
Ensembl chr10:87,007,165...87,016,157
G
Tmem106b
transmembrane protein 106B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33686287
NCBI chr 4:42,294,074...42,313,426
Ensembl chr 4:42,294,101...42,313,407
G
Tmem107
transmembrane protein 107
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr10:54,268,218...54,273,520
Ensembl chr10:54,271,196...54,278,586
G
Tmem121b
transmembrane protein 121B
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:155,367,397...155,372,310
Ensembl chr 4:155,355,267...155,373,376
G
Tmem123
transmembrane protein 123
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 8:13,206,907...13,237,069
Ensembl chr 8:13,206,403...13,257,427
G
Tmem150b
transmembrane protein 150B
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:78,153,729...78,164,149
Ensembl chr 1:78,153,961...78,169,810
G
Tmem182
transmembrane protein 182
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:50,555,029...50,606,908
Ensembl chr 9:50,550,462...50,606,907
G
Tmem38a
transmembrane protein 38a
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr16:17,292,215...17,307,704
Ensembl chr16:17,292,215...17,333,132
G
Tmem45a
transmembrane protein 45A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:57,181,686...57,268,630
Ensembl chr11:57,182,785...57,282,722
G
Tmem60
transmembrane protein 60
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 4:15,102,168...15,107,023
Ensembl chr 4:15,100,348...15,107,139
G
Tmigd3
transmembrane and immunoglobulin domain containing 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:196,027,286...196,103,430
Ensembl chr 2:196,027,286...196,103,428
G
Tmprss4
transmembrane serine protease 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32404436
NCBI chr 8:54,372,805...54,405,157
Ensembl chr 8:54,372,805...54,405,157
G
Tmt1a
thiol methyltransferase 1A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:133,330,141...133,377,172
Ensembl chr 7:133,330,447...133,338,959
G
Tmtc1
transmembrane O-mannosyltransferase targeting cadherins 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:182,874,350...183,089,408
Ensembl chr 4:182,878,802...183,102,532
G
Tmtc2
transmembrane O-mannosyltransferase targeting cadherins 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:42,280,746...42,695,651
Ensembl chr 7:42,280,746...42,693,350
G
Tmx1
thioredoxin-related transmembrane protein 1
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 6:94,696,699...94,707,751
Ensembl chr 6:94,696,358...94,708,618
G
Tnf
tumor necrosis factor
disease_progression severity
ISO
associated with diabetes mellitus ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease COVID-19 CTD Direct Evidence: marker/mechanism protein:increased expression:plasma (human) protein:increased expression:serum (human)
ClinVar CTD RGD
PMID:8056188 PMID:9818939 PMID:10450718 PMID:11261930 PMID:11506397 PMID:11826025 PMID:11896460 PMID:12485196 PMID:12746914 PMID:12759288 PMID:14681301 PMID:14718719 PMID:16418737 PMID:16720636 PMID:16865291 PMID:16909270 PMID:18050183 PMID:18713756 PMID:19365401 PMID:22760475 PMID:22992668 PMID:31986264 PMID:32345579 PMID:32696007 PMID:32365221 PMID:31986264 PMID:32427582 More...
RGD:30296681 , RGD:38501088 , RGD:30310229 , RGD:30309212 , RGD:30309200
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Tnfaip3
TNF alpha induced protein 3
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:15,528,921...15,543,979
G
Tnfaip8l2
TNF alpha induced protein 8 like 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:185,399,442...185,415,798
Ensembl chr 2:185,397,029...185,418,455
G
Tnfrsf13c
TNF receptor superfamily member 13C
ISO
mRNA:decreased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 7:115,616,139...115,618,647
Ensembl chr 7:115,616,303...115,618,620
G
Tnfrsf17
TNF receptor superfamily member 17
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:4,808,023...4,813,857
G
Tnfrsf1a
TNF receptor superfamily member 1A
ISO
ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease COVID-19
ClinVar
PMID:22801493 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816
G
Tnfrsf22
tumor necrosis factor receptor superfamily, member 22
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:208,269,844...208,285,823
Ensembl chr 1:208,258,836...208,289,832
G
Tnfsf10
TNF superfamily member 10
ISO
mRNA:increased expression:bronchoalveolar lavage (human) mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226 PMID:32407669
RGD:28912744 RGD:30296672
NCBI chr 2:112,136,550...112,155,903
G
Tnfsf12
TNF superfamily member 12
ISO
mRNA:decreased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr10:54,902,616...54,912,628
Ensembl chr10:54,902,616...54,911,913
G
Tnfsf13b
TNF superfamily member 13b
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr16:86,164,377...86,195,072
Ensembl chr16:86,164,377...86,194,499
G
Tnnt2
troponin T2, cardiac type
severity
ISO
protein:increased expression:serum (human)
RGD
PMID:32297828
RGD:32716368
NCBI chr13:49,819,123...49,837,125
Ensembl chr13:49,822,304...49,837,125
G
Tnrc6c
trinucleotide repeat containing adaptor 6C
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:103,367,498...103,478,246
Ensembl chr10:103,367,647...103,478,246
G
Tollip
toll interacting protein
ISO
ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19)
ClinVar
NCBI chr 1:206,391,120...206,413,809
Ensembl chr 1:206,380,308...206,411,988
G
Top2a
DNA topoisomerase II alpha
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:84,441,954...84,473,093
Ensembl chr10:84,441,954...84,473,366
G
Topors
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:60,184,076...60,195,979
Ensembl chr 5:60,182,035...60,194,706
G
Tp53i3
tumor protein p53 inducible protein 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 6:33,537,779...33,545,204
G
Tpi1
triosephosphate isomerase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:159,301,562...159,305,413
G
Tpm2
tropomyosin 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:62,566,712...62,576,066
Ensembl chr 5:62,566,652...62,575,726
G
Tppp
tubulin polymerization promoting protein
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:31,085,680...31,109,703
Ensembl chr 1:31,089,824...31,109,654
G
Tpst1
tyrosylprotein sulfotransferase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:32,180,688...32,247,478
Ensembl chr12:32,180,936...32,241,821
G
Tpx2
TPX2, microtubule nucleation factor
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:161,778,709...161,820,941
Ensembl chr 3:161,778,742...161,820,724
G
Tra2b
transformer 2 beta
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr11:92,293,403...92,311,651
Ensembl chr11:92,293,410...92,311,781
G
Trim7
tripartite motif-containing 7
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:33,706,614...33,722,609
Ensembl chr10:33,706,614...33,722,609
G
Trim71
tripartite motif containing 71
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:123,076,499...123,129,016
G
Trip13
thyroid hormone receptor interactor 13
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:31,185,700...31,230,638
Ensembl chr 1:31,185,594...31,230,634
G
Troap
trophinin associated protein
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:132,111,892...132,121,296
Ensembl chr 7:132,113,433...132,121,294
G
Trpm2
transient receptor potential cation channel, subfamily M, member 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr20:10,703,190...10,752,795
Ensembl chr20:10,704,482...10,752,802
G
Tsc22d3
TSC22 domain family, member 3
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr X:109,006,410...109,066,389
Ensembl chr X:109,006,420...109,015,519
G
Tshz2
teashirt zinc finger homeobox 2
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:178,824,221...179,271,151
Ensembl chr 3:178,824,994...179,269,641
G
Tspo
translocator protein
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 7:116,600,214...116,610,461
Ensembl chr 7:116,600,210...116,610,460
G
Tspoap1
TSPO associated protein 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:73,053,414...73,083,640
Ensembl chr10:73,058,354...73,083,640
G
Tspyl1
TSPY-like 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr20:39,637,035...39,639,594
Ensembl chr20:39,635,135...39,695,333
G
Ttk
Ttk protein kinase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:93,632,678...93,672,664
Ensembl chr 8:93,634,319...93,672,664
G
Tubg1
tubulin, gamma 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:86,553,143...86,559,733
Ensembl chr10:86,552,499...86,559,730
G
Twf2
twinfilin actin-binding protein 2
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:115,723,980...115,737,025
Ensembl chr 8:115,723,970...115,737,025
G
Txndc5
thioredoxin domain containing 5
ISO
mRNA:decreased expression:antibody secreting B cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr17:26,495,467...26,523,608
Ensembl chr17:26,490,047...26,523,597
G
Txnip
thioredoxin interacting protein
ISO
mRNA:decreased expression:CD4+ T cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 2:186,781,933...186,785,736
Ensembl chr 2:186,781,163...186,785,731
G
Tyk2
tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33307546
NCBI chr 8:27,918,054...27,943,319
Ensembl chr 8:27,916,496...27,943,278
G
Tyms
thymidylate synthetase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:120,763,386...120,776,097
G
Uaca
uveal autoantigen with coiled-coil domains and ankyrin repeats
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 8:70,155,059...70,243,416
Ensembl chr 8:70,155,047...70,243,415
G
Uap1l1
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:28,570,854...28,579,766
Ensembl chr 3:28,573,358...28,578,630
G
Ubc
ubiquitin C
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr12:36,899,673...36,905,275
Ensembl chr12:36,900,127...36,905,275
G
Ube2c
ubiquitin-conjugating enzyme E2C
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:173,925,975...173,928,375
Ensembl chr 3:173,925,934...173,932,678
G
Ube2j1
ubiquitin-conjugating enzyme E2, J1
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 5:52,218,807...52,237,805
Ensembl chr 5:52,218,807...52,237,805
G
Ucp2
uncoupling protein 2
ISO
mRNA:decreased expression:CD4+ T cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 1:164,251,373...164,257,742
Ensembl chr 1:164,251,373...164,257,743
G
Ugcg
UDP-glucose ceramide glucosyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33639165
NCBI chr 5:78,828,006...78,860,725
Ensembl chr 5:78,828,006...78,860,417
G
Unc13b
unc-13 homolog B
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 5:62,084,809...62,299,884
Ensembl chr 5:62,084,819...62,299,884
G
Upk3b
uroplakin 3B
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:26,266,838...26,274,240
Ensembl chr12:26,266,838...26,274,240
G
Vdac1
voltage-dependent anion channel 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:37,029,377...37,060,542
Ensembl chr10:37,023,145...37,060,541
G
Vegfa
vascular endothelial growth factor A
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:31986264
RGD:30309212
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194
G
Vim
vimentin
ISO
mRNA:decreased expression:antibody secreting B cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr17:81,577,261...81,585,746
Ensembl chr17:81,568,272...81,585,746
G
Vps25
vacuolar protein sorting 25 homolog
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:86,696,330...86,701,871
Ensembl chr10:86,696,157...86,701,871
G
Vsig10l
V-set and immunoglobulin domain containing 10 like
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:103,007,933...103,016,161
Ensembl chr 1:103,008,095...103,016,790
G
Vsig4
V-set and immunoglobulin domain containing 4
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr X:65,154,422...65,179,708
Ensembl chr X:65,154,424...65,179,708
G
Wasf1
WASP family member 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr20:45,908,458...45,956,118
Ensembl chr20:45,908,750...45,955,640
G
Wdr74
WD repeat domain 74
ISO
mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 1:215,060,901...215,065,687
Ensembl chr 1:215,060,961...215,066,336
G
Wfdc1
WAP four-disulfide core domain 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr19:64,628,689...64,647,739
Ensembl chr19:64,607,794...64,648,028
G
Xxylt1
xyloside xylosyltransferase 1
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:83,163,432...83,295,879
Ensembl chr11:83,163,189...83,295,988
G
Yes1
YES proto-oncogene 1, Src family tyrosine kinase
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 9:120,646,657...120,753,880
Ensembl chr 9:120,646,838...120,746,441
G
Ypel1
yippee-like 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:97,426,012...97,440,646
G
Ypel4
yippee-like 4
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:90,222,060...90,227,395
Ensembl chr 3:90,222,803...90,227,381
G
Ywhag
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr12:26,381,106...26,409,466
Ensembl chr12:26,380,816...26,409,465
G
Zbtb20
zinc finger and BTB domain containing 20
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr11:70,558,010...71,297,039
Ensembl chr11:70,580,930...70,736,237
G
Zbtb32
zinc finger and BTB domain containing 32
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:94,969,374...94,978,553
Ensembl chr 1:94,969,374...94,971,679
G
Zbtb43
zinc finger and BTB domain containing 43
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:37,142,210...37,161,524
Ensembl chr 3:37,141,354...37,162,238
G
Zfp36
zinc finger protein 36
ISO
mRNA:increased expression:bronchoalveolar lavage (human) mRNA:increased expression:CD14++ monocytes (human)
RGD
PMID:32377375 PMID:32407669
RGD:30296672 RGD:32716422
NCBI chr 1:92,796,628...92,799,108
Ensembl chr 1:92,796,628...92,799,108
G
Zfp365
zinc finger protein 365
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr20:20,665,122...20,688,607
Ensembl chr20:20,665,046...20,690,114
G
Zfp366
zinc finger protein 366
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 2:32,312,712...32,376,996
Ensembl chr 2:32,312,907...32,374,315
G
Zfp36l1
zinc finger protein 36, C3H type-like 1
ISO
mRNA:decreased expression:memory B cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 6:104,663,396...104,669,815
Ensembl chr 6:104,663,399...104,687,979
G
Zfp36l2
zinc finger protein 36, C3H type-like 2
ISO
mRNA:decreased expression:memory B cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 6:16,242,622...16,246,662
Ensembl chr 6:16,242,610...16,246,653
G
Zfp574
zinc finger protein 574
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:89,798,412...89,805,490
Ensembl chr 1:89,760,956...89,813,198
G
Zfp683
zinc finger protein 683
ISO
mRNA:decreased expression:CD8+ T cells (human)
RGD
PMID:32377375
RGD:32716422
NCBI chr 5:151,558,880...151,569,937
Ensembl chr 5:151,561,480...151,569,764
G
Zfp830
zinc finger protein 830
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr10:68,198,903...68,200,367
Ensembl chr10:68,198,876...68,217,373
G
Zfp831
zinc finger protein 831
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 3:183,811,489...183,931,900
Ensembl chr 3:183,811,648...183,927,253
G
Zfpm1
zinc finger protein, multitype 1
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr19:67,242,922...67,299,149
Ensembl chr19:67,179,751...67,299,149
G
Zfyve28
zinc finger FYVE-type containing 28
ISO
mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr14:80,692,997...80,778,606
Ensembl chr14:80,692,819...80,778,586
G
Zng1a
Zn regulated GTPase metalloprotein activator 1A
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr 1:231,994,651...232,039,314
Ensembl chr 1:231,991,118...232,036,998
G
Zwint
ZW10 interacting kinetochore protein
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:32228226
RGD:28912744
NCBI chr20:15,502,559...15,953,701
Ensembl chr20:15,937,396...15,953,203
G
Cast
calpastatin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34365571
NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:5,707,640...5,817,180
G
Cd1d1
CD1d1 molecule
ISO
protein:increased expression:spleen, mononuclear cell (mouse)
RGD
PMID:16817758
RGD:127345109
NCBI chr 2:174,721,522...174,725,029
Ensembl chr 2:174,721,522...174,725,029
G
Cd274
CD274 molecule
treatment
ISO
RGD
PMID:30904424
RGD:40818421
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
G
Dnm1l
dynamin 1-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34365571
NCBI chr11:98,084,049...98,135,663
Ensembl chr11:98,085,397...98,137,420
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25396421
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
G
Pdcd1lg2
programmed cell death 1 ligand 2
treatment
ISO
RGD
PMID:30904424
RGD:40818421
NCBI chr 1:236,572,497...236,637,490
Ensembl chr 1:236,565,526...236,637,490
G
Siva1
SIVA1, apoptosis-inducing factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16683188
NCBI chr 6:137,526,416...137,530,790
Ensembl chr 6:137,526,031...137,530,790
G
Slc22a3
solute carrier family 22 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21641380
NCBI chr 1:50,783,218...50,872,358
Ensembl chr 1:50,783,218...50,872,353
G
Slc22a4
solute carrier family 22 member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21641380
NCBI chr10:38,634,098...38,687,409
Ensembl chr10:38,634,098...38,679,920
G
Slc22a5
solute carrier family 22 member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21641380
NCBI chr10:38,509,072...38,536,240
Ensembl chr10:38,509,072...38,536,077
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25396421
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11745696
NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:82,266,436...82,292,858
G
Tnfsf9
TNF superfamily member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11745696
NCBI chr 9:2,031,011...2,033,345
Ensembl chr 9:2,030,953...2,033,339
G
Ifna1
interferon, alpha 1
susceptibility
ISO
DNA:SNP:promoter: -1823G>A (rs1332190)(human)
RGD
PMID:26694082
RGD:36174029
NCBI chr 5:108,143,240...108,143,809
Ensembl chr 5:108,143,240...108,143,809
G
Cd274
CD274 molecule
treatment
ISO
RGD
PMID:29058791
RGD:41412178
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
associated with HIV Infections;DNA:polymorphism:cds:
RGD
PMID:21592999
RGD:12910861
NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546
G
Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:29058791 PMID:29058791
RGD:41412178 , RGD:41412178
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270
G
Btk
Bruton tyrosine kinase
exacerbates
ISO
RGD
PMID:23820392
RGD:124715476
NCBI chr X:102,016,070...102,055,448
Ensembl chr X:102,016,074...102,055,143
G
Ccl2
C-C motif chemokine ligand 2
ISO
mRNA, protein:increased expression:lung (mouse)
RGD
PMID:11714821
RGD:11528563
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
G
Cd40
CD40 molecule
treatment
ISO
RGD
PMID:16552046
RGD:7248435
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847
G
Cd86
CD86 molecule
ISO
protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:16790753
RGD:4892554
NCBI chr11:77,647,565...77,706,178
Ensembl chr11:77,647,600...77,725,361
G
Chia
chitinase, acidic
IEP
protein:increased expression:lung (rat)
RGD
PMID:18482441
RGD:4990459
NCBI chr 2:196,302,687...196,344,849
Ensembl chr 2:196,302,545...196,344,850
G
Il23a
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:16393998 PMID:22342846
RGD:39457936 , RGD:39458042
NCBI chr 7:1,306,320...1,308,434
Ensembl chr 7:1,306,320...1,308,434
G
Il33
interleukin 33
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:27596810
RGD:38549345
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:237,115,572...237,150,901
G
Il4r
interleukin 4 receptor
ISO
RGD
PMID:18954266
RGD:4890005
NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:189,544,988...189,570,636
G
Marco
macrophage receptor with collagenous structure
disease_progression
ISO
RGD
PMID:28298522
RGD:41412191
NCBI chr13:34,169,011...34,210,340
Ensembl chr13:34,169,011...34,201,255
G
Sftpc
surfactant protein C
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:27596810
RGD:38549345
NCBI chr15:52,006,274...52,009,324
Ensembl chr15:52,006,283...52,009,475
G
Ace
angiotensin I converting enzyme
ISO
associated with essential hypertension:DNA:hypomethylation
RGD
PMID:29752343
RGD:40400905
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942
G
Ccl21
C-C motif chemokine ligand 21
ISO
protein:increased expression:plasma (human)
RGD
PMID:23593305
RGD:38508895
NCBI chr 5:61,776,411...61,777,515
Ensembl chr 5:61,776,413...61,777,540
G
Ccl3
C-C motif chemokine ligand 3
ISO
associated with renal allograft recipients
RGD
PMID:10353879
RGD:7241836
NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,948,889...68,950,439
G
Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:lung, secretion (human)
RGD
PMID:18513272
RGD:4891916
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,738,651...68,824,884
G
Cd1d1
CD1d1 molecule
exacerbates
ISO
RGD
PMID:17379092
RGD:127345104
NCBI chr 2:174,721,522...174,725,029
Ensembl chr 2:174,721,522...174,725,029
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:plasma (human)
RGD
PMID:23593305
RGD:38508895
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261
G
Il17d
interleukin 17D
severity
ISO
RGD
PMID:30209334
RGD:40903063
NCBI chr15:35,786,898...35,804,391
Ensembl chr15:35,786,898...35,804,391
G
Il1rl1
interleukin 1 receptor-like 1
ISO
RGD
PMID:25926677
RGD:40400705
NCBI chr 9:50,157,326...50,222,888
Ensembl chr 9:50,204,551...50,222,891
G
Il27
interleukin 27
ISO
protein:increased expression:spleen, saliva-secreting gland (mouse)
RGD
PMID:27926930
RGD:126790498
NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:190,603,522...190,609,258
G
Il5
interleukin 5
ISO
RGD
PMID:22293286
RGD:5687156
NCBI chr10:38,375,132...38,378,003
Ensembl chr10:38,375,132...38,378,003
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 4:164,767,377...164,778,453
Ensembl chr 4:164,767,946...164,778,382
G
Mbl2
mannose binding lectin 2
severity
ISO
DNA:SNP:exon DNA:polymorphism: :
RGD
PMID:19715891 PMID:20712489
RGD:6903267 , RGD:4889482
NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546
G
Mthfr
methylenetetrahydrofolate reductase
ameliorates
ISO
RGD
PMID:19609317 PMID:19609317
RGD:42722609 , RGD:42722609
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105
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 1:78,657,409...78,665,255
Ensembl chr 1:78,659,262...78,703,273
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 6:78,593,844...78,597,307
Ensembl chr 6:78,593,847...78,597,072
G
Pdcd1
programmed cell death 1
susceptibility
ISO
associated with kidney transplantation; DNA:SNP: :rs11568821(human)
RGD
PMID:19581275
RGD:40818426
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270
G
Ripk3
receptor-interacting serine-threonine kinase 3
severity
ISO
RGD
PMID:29847649
RGD:127229927
NCBI chr15:33,253,071...33,262,025
Ensembl chr15:33,253,071...33,262,025
G
RT1-M3-1
RT1 class Ib, locus M3, gene 1
susceptibility
ISO
RGD
PMID:19624485
RGD:5144145
NCBI chr20:1,329,227...1,333,394
Ensembl chr20:1,329,225...1,333,366
G
Samhd1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
exacerbates
ISO
RGD
PMID:31548683
RGD:149735526
NCBI chr 3:166,179,742...166,214,448
Ensembl chr 3:166,181,588...166,214,410
G
Selp
selectin P
ISO
RGD
PMID:21457388
RGD:6219000
NCBI chr13:79,009,379...79,044,994
Ensembl chr13:79,009,475...79,044,987
G
Stat1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16688530
NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:56,911,523...57,077,346
G
Stat2
signal transducer and activator of transcription 2
exacerbates
ISO
RGD
PMID:29743368
RGD:41789628
NCBI chr 7:1,287,025...1,302,858
Ensembl chr 7:1,287,024...1,303,459
G
Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:31249303
RGD:39128225
NCBI chr18:27,606,196...27,612,544
Ensembl chr18:27,606,196...27,611,947
G
Tnf
tumor necrosis factor
ISO
RGD
PMID:7815559
RGD:12904072
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Vcp
valosin-containing protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28494016
NCBI chr 5:62,005,984...62,025,387
Ensembl chr 5:62,005,985...62,025,387
G
Vwf
von Willebrand factor
ISO
protein:increased expression:plasma (human)
RGD
PMID:23593305
RGD:38508895
NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:160,047,982...160,177,757
G
Was
WASP actin nucleation promoting factor
severity
ISO
RGD
PMID:30981413
RGD:38676256
NCBI chr X:17,077,057...17,085,802
Ensembl chr X:17,073,314...17,085,802
G
Il10
interleukin 10
ISO
associated with Murine Acquired Immunodeficiency Syndrome
RGD
PMID:23415673
RGD:7364815
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Ripk3
receptor-interacting serine-threonine kinase 3
ISO
protein:increased expression:optic cup, retina (mouse)
RGD
PMID:29853772
RGD:127229940
NCBI chr15:33,253,071...33,262,025
Ensembl chr15:33,253,071...33,262,025
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 chr20:3,314,491...3,322,815
G
Tnf
tumor necrosis factor
ISO
mRNA,protein:increased expression:eye:
RGD
PMID:22072377 PMID:17389501
RGD:7394768 , RGD:7394808
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:17389501
RGD:7394808
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816
G
Cd209d
CD209d molecule
susceptibility severity
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dengue fever, protection against | ClinVar Annotator: match by term: Dengue virus, susceptibility to DNA:SNP:promoter: -336G>A (human)
CTD OMIM ClinVar RGD
PMID:15564514 PMID:15838506 PMID:16379498 PMID:25741868 PMID:16274635
RGD:39939064
NCBI chr12:6,689,002...6,695,452
Ensembl chr12:6,689,002...6,698,976
G
Cxcr2
C-X-C motif chemokine receptor 2
treatment
ISO
RGD
PMID:30098206
RGD:39938828
NCBI chr 9:83,178,645...83,185,017
Ensembl chr 9:83,183,808...83,188,602
G
F2
coagulation factor II, thrombin
ISO
RGD
PMID:22138554
RGD:40818430
NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:98,051,960...98,065,246
G
Fcgr2a
Fc gamma receptor 2A
severity
ISO
DNA:polymorphism:cds:p.H131R(human)
RGD
PMID:26240159
RGD:13463456
NCBI chr13:85,813,516...85,830,269
Ensembl chr13:85,855,437...85,864,394 Ensembl chr13:85,855,437...85,864,394
G
Gc
GC, vitamin D binding protein
ISO
protein:increased expression:plasma
RGD
PMID:19845402
RGD:5509870
NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,916,246...18,951,673
G
Ido1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:31821895
RGD:39939074
NCBI chr16:74,133,259...74,145,328
Ensembl chr16:74,133,259...74,145,328
G
Ifnl1
interferon, lambda 1
ameliorates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:28238051
RGD:126848771
NCBI chr 1:92,926,184...92,927,830
G
Il1rl1
interleukin 1 receptor-like 1
treatment
ISO
RGD
PMID:30098206
RGD:39938828
NCBI chr 9:50,157,326...50,222,888
Ensembl chr 9:50,204,551...50,222,891
G
Il33
interleukin 33
severity
ISO
RGD
PMID:30098206
RGD:39938828
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:237,115,572...237,150,901
G
Mapk8
mitogen-activated protein kinase 8
ISO
protein:increased phosphorylation:liver (mouse)
RGD
PMID:28188818
RGD:150340680
NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,645,198...8,728,427
G
Mir146a
microRNA 146a
ISO
RNA:decreased expression:serum:
RGD
PMID:26941580
RGD:41404658
NCBI chr10:28,349,996...28,350,090
G
Mir21
microRNA 21
ISO
RNA:increased expression:serum:
RGD
PMID:26941580
RGD:41404658
NCBI chr10:71,902,600...71,902,691
G
Stat2
signal transducer and activator of transcription 2
susceptibility
ISO
RGD
PMID:21075352 PMID:21379341
RGD:41789625 , RGD:41789629
NCBI chr 7:1,287,025...1,302,858
Ensembl chr 7:1,287,024...1,303,459
G
Cd1d1
CD1d1 molecule
disease_progression
ISO
protein:increased expression:cd14-positive monocyte (human)
RGD
PMID:24945350
RGD:127345113
NCBI chr 2:174,721,522...174,725,029
Ensembl chr 2:174,721,522...174,725,029
G
Cd209d
CD209d molecule
severity susceptibility
ISO
DNA:SNPs:introns, promoter:multiple (human) DNA:SNP:promoter: -336 A>G (rs4804803) (human)
RGD
PMID:15838506 PMID:21245921
RGD:39938993 , RGD:41410809
NCBI chr12:6,689,002...6,695,452
Ensembl chr12:6,689,002...6,698,976
G
Clec5a
C-type lectin domain containing 5A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18496526
NCBI chr 4:70,373,855...70,383,560
Ensembl chr 4:70,374,529...70,398,230
G
Fcgr2a
Fc gamma receptor 2A
susceptibility
ISO
DNA:polymorphism:cds:p.H131R(human)
RGD
PMID:22817980
RGD:11040906
NCBI chr13:85,813,516...85,830,269
Ensembl chr13:85,855,437...85,864,394 Ensembl chr13:85,855,437...85,864,394
G
Ifnl1
interferon, lambda 1
ameliorates
ISO
DNA:SNP:enhancer:-1043C>T (rs7247086) (human)
RGD
PMID:31981768
RGD:126848742
NCBI chr 1:92,926,184...92,927,830
G
Il21
interleukin 21
severity
ISO
protein:increased expression:blood serum (human)
RGD
PMID:24858204
RGD:127285368
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
G
Micb
MHC class I polypeptide-related sequence B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22001756
NCBI chr 1:87,623,826...87,641,075
Ensembl chr 1:87,623,826...87,640,872
G
Osbp
oxysterol binding protein
ISO
mRNA:increased expression:peripheral blood mononuclear cell
RGD
PMID:28241052
RGD:41404654
NCBI chr 1:218,313,455...218,343,263
Ensembl chr 1:218,313,148...218,343,258
G
Plce1
phospholipase C, epsilon 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22001756
NCBI chr 1:245,655,855...245,964,966
Ensembl chr 1:245,657,080...245,963,828
G
Slc6a4
solute carrier family 6 member 4
severity
ISO
DNA;polymorphism:5'utr: (rs25531) (human)
RGD
PMID:30452889
RGD:38676265
NCBI chr10:62,322,688...62,357,060
Ensembl chr10:62,324,254...62,357,056
G
Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:SNPs: :
RGD
PMID:18071882
RGD:6482261
NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,638,257...4,651,537
G
Cd163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood plasma (human)
RGD
PMID:30666927
RGD:149735528
NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:158,770,749...158,804,146
G
Il3
interleukin 3
ISO
protein: reduced expression: plasma
RGD
PMID:20957152
RGD:5686879
NCBI chr10:38,906,460...38,908,810
Ensembl chr10:38,906,460...38,908,810
G
Ido1
indoleamine 2,3-dioxygenase 1
severity
ISO
associated with atopic dermatitis; protein:increased activity:serum (human)
RGD
PMID:26198597
RGD:11528429
NCBI chr16:74,133,259...74,145,328
Ensembl chr16:74,133,259...74,145,328
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 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
G
Il21
interleukin 21
ISO
protein:increased expression:CD4-positive helper T cell (mouse)
RGD
PMID:26597007
RGD:11086452
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
G
Snora31
small nucleolar RNA, H/ACA box 31
susceptibility
ISO
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10
OMIM ClinVar
PMID:31806906
NCBI chr15:57,568,564...57,568,693
Ensembl chr15:57,568,564...57,568,693
G
Tpt1
tumor protein, translationally-controlled 1
ISO
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10
ClinVar
PMID:31806906
NCBI chr15:57,562,217...57,568,968
Ensembl chr15:57,566,067...57,569,554
G
Btk
Bruton tyrosine kinase
treatment
ISO
Associated with X-linked agammaglobulinemia
RGD
PMID:10508272
RGD:124715472
NCBI chr X:102,016,070...102,055,448
Ensembl chr X:102,016,074...102,055,143
G
Cog1
component of oligomeric golgi complex 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28446605
NCBI chr10:99,192,604...99,207,640
Ensembl chr10:99,194,568...99,208,437
G
Cog5
component of oligomeric golgi complex 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28446605
NCBI chr 6:53,969,967...54,267,869
Ensembl chr 6:53,969,979...54,278,973
G
Il10
interleukin 10
severity
ISO
DNA:SNP:promoter:-592A>C (rs1800872) (human)
RGD
PMID:28843383
RGD:14975146
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Mgat5
alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28446605
NCBI chr13:41,228,327...41,516,462
Ensembl chr13:41,228,360...41,516,461
G
Mir146a
microRNA 146a
ameliorates
ISO
miRNA:increased expression:blood serum, exosome (human)
RGD
PMID:28910400 PMID:24561744
RGD:126925164 , RGD:126925173
NCBI chr10:28,349,996...28,350,090
G
Mx1
MX dynamin like GTPase 1
susceptibility
ISO
DNA:SNPs:promoter:g.-123C>A, g.-88G>T (rs17000900, rs2071430) (human)
RGD
PMID:24085612
RGD:126777678
NCBI chr11:50,269,056...50,294,699
Ensembl chr11:50,269,057...50,292,904
G
Slc22a4
solute carrier family 22 member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21641380
NCBI chr10:38,634,098...38,687,409
Ensembl chr10:38,634,098...38,679,920
G
St3gal1
ST3 beta-galactoside alpha-2,3-sialyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28446605
NCBI chr 7:100,734,300...100,802,443
Ensembl chr 7:100,734,300...100,745,242
G
St3gal4
ST3 beta-galactoside alpha-2,3-sialyltransferase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28446605
NCBI chr 8:41,673,510...41,723,158
Ensembl chr 8:41,673,510...41,712,551
G
Tnfrsf1a
TNF receptor superfamily member 1A
ISO
Rhinovirus Infections
RGD
PMID:19864593
RGD:5131210
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816
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 chr10:103,480,762...103,498,207
Ensembl chr10:103,480,762...103,497,398
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 chr10:103,498,505...103,509,496
Ensembl chr10:103,499,041...103,509,294
G
Tnrc6c
trinucleotide repeat containing adaptor 6C
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:28492532
NCBI chr10:103,367,498...103,478,246
Ensembl chr10:103,367,647...103,478,246
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 chr10:103,480,762...103,498,207
Ensembl chr10:103,480,762...103,497,398
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 chr10:103,498,505...103,509,496
Ensembl chr10:103,499,041...103,509,294
G
Tmc6
transmembrane channel like 6
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 | ClinVar Annotator: match by term: TMC8-related condition
ClinVar
PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:103,480,762...103,498,207
Ensembl chr10:103,480,762...103,497,398
G
Tmc8
transmembrane channel-like 8
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 | ClinVar Annotator: match by term: TMC8-related condition
OMIM ClinVar
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16199547 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28646613 More...
NCBI chr10:103,498,505...103,509,496
Ensembl chr10:103,499,041...103,509,294
G
Cib1
calcium and integrin binding 1
susceptibility
ISO
ClinVar Annotator: match by term: CIB1-related condition | 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 1:143,587,591...143,593,153
Ensembl chr 1:143,587,021...143,593,326
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 4:157,446,120...157,455,958
Ensembl chr 4:157,444,697...157,456,356
G
Cd163
CD163 molecule
ISO
associated with Hodgkin's lymphoma;protein:increased expression:macrophage (human)
RGD
PMID:21602260
RGD:40925915
NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:158,770,749...158,804,146
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 chr10:54,880,562...54,882,441
Ensembl chr10:54,880,563...54,882,540
G
Cd8a
CD8 subunit alpha
ISO
associated with stomach cancer;mRNA:increased expression:stomach (human)
RGD
PMID:29155997
RGD:124715448
NCBI chr 4:104,924,116...104,928,353
Ensembl chr 4:104,900,833...104,928,358
G
Fgfr2
fibroblast growth factor receptor 2
no_association
ISO
DNA:missense mutation:cds:(rs755793) (human)
RGD
PMID:29446487
RGD:38500242
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
G
Foxp3
forkhead box P3
susceptibility
ISO
associated with adult T-cell leukemia;
RGD
PMID:18246047
RGD:38548918
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:17,580,380...17,595,894
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 chr20:11,061,009...11,097,242
Ensembl chr20:11,058,492...11,097,182
G
Mir146a
microRNA 146a
exacerbates
ISO
associated with respiratory allergy;miRNA:increased expression:blood serum (human)
RGD
PMID:31322518
RGD:126925156
NCBI chr10:28,349,996...28,350,090
G
Pten
phosphatase and tensin homolog
ISO
associated with stomach carcinoma;DNA:hypermethylation:promoter (human)
RGD
PMID:19339266
RGD:127285616
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330
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 chr20:4,777,494...4,781,486
Ensembl chr20:4,776,547...4,781,574
G
Tp73
tumor protein p73
ISO
associated with stomach carcinoma;DNA:hypermethylation:promoter (human)
RGD
PMID:23829175
RGD:151347586
NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:169,903,801...169,963,552
G
Cdkn2b
cyclin-dependent kinase inhibitor 2B
ISO
associated with Leukemia, Myeloid, Acute;DNA:hypermethylation:promoter:
RGD
PMID:18384396
RGD:11252189
NCBI chr 5:109,123,308...109,134,906
Ensembl chr 5:109,114,322...109,134,855
G
Ccr5
C-C motif chemokine receptor 5
ISO
associated with hepatitis G virus infection; protein:decreased expression: T lymphocyte:hepatitis G virus infection
RGD
PMID:12824783
RGD:14401734
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
G
Mir155
microRNA 155
ISO
RGD
PMID:27765085
RGD:25671376
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:37,261,114...37,261,178
G
Prf1
perforin 1
ISO
mRNA:increased expression:brain, spleen
RGD
PMID:21908734
RGD:6482795
NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,788,972...29,795,124
G
Ccl5
C-C motif chemokine ligand 5
ISO
RGD
PMID:12502811
RGD:4890015
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,738,651...68,824,884
G
Ifnar1
interferon alpha and beta receptor subunit 1
exacerbates
ISO
RGD
PMID:28264883
RGD:125093738
NCBI chr11:44,211,769...44,238,206
Ensembl chr11:44,211,845...44,238,205
G
Ifng
interferon gamma
ISO
protein:increased expression:vaginal secretion:
RGD
PMID:10366565
RGD:8158034
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
G
Il21
interleukin 21
treatment
ISO
RGD
PMID:24358128
RGD:127285365
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
G
Il3
interleukin 3
ISO
RNA: increased expression
RGD
PMID:21175248
RGD:5686876
NCBI chr10:38,906,460...38,908,810
Ensembl chr10:38,906,460...38,908,810
G
Irf9
interferon regulatory factor 9
exacerbates
ISO
RGD
PMID:28264883
RGD:125093738
NCBI chr15:33,065,422...33,071,881
Ensembl chr15:33,065,659...33,071,879
G
Nfe2l2
NFE2 like bZIP transcription factor 2
ameliorates
ISO
RGD
PMID:31555293
RGD:42722615
NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:81,001,529...81,029,090
G
Rnasel
ribonuclease L
severity
ISO
RGD
PMID:17157346
RGD:40902623
NCBI chr13:68,446,641...68,460,804
Ensembl chr13:68,446,882...68,459,557
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 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346
G
Actb
actin, beta
ISO
protein:increased expression:serum
RGD
PMID:30817906
RGD:36947391
NCBI chr12:16,776,664...16,779,634
Ensembl chr12:16,776,661...16,780,242
G
Ren
renin
treatment
ISO
RGD
PMID:31638922
RGD:127285374
NCBI chr13:47,348,312...47,359,539
Ensembl chr13:47,348,143...47,359,543
G
Alb
albumin
severity
ISO
RGD
PMID:14555823
RGD:11035280
NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865
G
Apoc3
apolipoprotein C3
disease_progression
ISO
RGD
PMID:20797315
RGD:7207210
NCBI chr 8:55,428,172...55,430,352
Ensembl chr 8:55,428,024...55,458,679
G
Cd163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood plasma (human) protein:increased expression:CD14-positive, CD16-positive monocyte, blood plasma (human) protein:increased expression:CD14-positive monocyte (human)
RGD
PMID:25789628 PMID:25392926 PMID:29857122
RGD:127285679 , RGD:127345131 , RGD:127285683
NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:158,770,749...158,804,146
G
Ifng
interferon gamma
severity
ISO
protein:increased expression:serum
RGD
PMID:22613426
RGD:6893374
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
G
Il1rl1
interleukin 1 receptor-like 1
severity
ISO
RGD
PMID:25658420
RGD:40400702
NCBI chr 9:50,157,326...50,222,888
Ensembl chr 9:50,204,551...50,222,891
G
Il2ra
interleukin 2 receptor subunit alpha
ISO
protein:increased expression:T cell
RGD
PMID:21436245
RGD:5147436
NCBI chr17:71,759,802...71,808,475
Ensembl chr17:71,759,802...71,808,507
G
Il33
interleukin 33
severity
ISO
RGD
PMID:25658420
RGD:40400702
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:237,115,572...237,150,901
G
Itgb3
integrin subunit beta 3
severity
ISO
protein:increased expression:platelet
RGD
PMID:18419255
RGD:6907404
NCBI chr10:90,009,927...90,067,787
Ensembl chr10:90,009,900...90,067,800
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism:cds:HLA-DRB1*0401-0411, HLA-DRB1*1001, HLA-DRB1*1101-1105, HLA-DRB1*1201-1202 and HLA-DRB1*1305 (human)
RGD
PMID:25169964
RGD:40818303
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165
G
Itgb3
integrin subunit beta 3
ISO
RGD
PMID:15886525
RGD:6907410
NCBI chr10:90,009,927...90,067,787
Ensembl chr10:90,009,900...90,067,800
G
Mki67
marker of proliferation Ki-67
ISO
RGD
PMID:21795350
RGD:6483519
NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:199,926,150...199,952,593
G
Ace
angiotensin I converting enzyme
ISO
DNA:insertion/deletion:intron 16:
RGD
PMID:12458570
RGD:39939119
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
disease_progression
ISO
RGD
PMID:26347518
RGD:40818419
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973
G
Pdcd1
programmed cell death 1
disease_progression
ISO
RGD
PMID:26347518
RGD:40818419
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:serum (human)
RGD
PMID:9047083
RGD:14995307
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:missense mutation:cds:p.R194W (rs1799782) (human) DNA:SNP:intron: (rs1001581) (human)
RGD
PMID:22135187 PMID:29558945
RGD:15014793 , RGD:15036793
NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:89,268,644...89,296,613
G
Aicda
activation-induced cytidine deaminase
treatment
ISO
RGD
PMID:28063995
RGD:30310232
NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:157,444,697...157,456,356
G
Ca9
carbonic anhydrase 9
disease_progression
ISO
DNA:SNP::rs2071676(human)
RGD
PMID:32297155
RGD:40903057
NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:62,558,823...62,565,626
G
Ccl4
C-C motif chemokine ligand 4
ISO
RGD
PMID:21914058
RGD:5683873
NCBI chr10:68,963,893...68,965,728
Ensembl chr10:68,950,289...68,965,722
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 chr10:68,820,330...68,824,906
Ensembl chr10:68,738,651...68,824,884
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 4:161,653,048...161,675,422
Ensembl chr 4:161,653,048...161,680,301 Ensembl chr 4:161,653,048...161,680,301
G
Ccr3
C-C motif chemokine receptor 3
ISO
RGD
PMID:19185001
RGD:6893388
NCBI chr 8:132,463,533...132,511,601
Ensembl chr 8:132,463,788...132,511,593
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 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
G
Cd68
Cd68 molecule
ISO
associated with inflammation;protein:increased expression:liver (human)
RGD
PMID:9699943
RGD:40925917
NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,880,563...54,882,540
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 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973
G
Ctnnb1
catenin beta 1
ISO
associated with hepatocellular carcinoma;protein:increased expression:liver (human)
RGD
PMID:25536643
RGD:150429591
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662
G
Cxcl10
C-X-C motif chemokine ligand 10
disease_progression
ISO
DNA:SNP:promoter:-201G>A(human)
RGD
PMID:18325387
RGD:27095959
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261
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 7:64,756,626...64,761,570
Ensembl chr 7:64,756,626...64,761,570
G
Dock8
dedicator of cytokinesis 8
disease_progression
ISO
DNA:SNP::rs506121(human)
RGD
PMID:32297155
RGD:40903057
NCBI chr 1:232,075,468...232,268,830
Ensembl chr 1:232,075,588...232,268,833
G
Eftud2
elongation factor Tu GTP binding domain containing 2
susceptibility
ISO
RGD
PMID:34436958
RGD:155791665
NCBI chr10:88,304,992...88,352,229
Ensembl chr10:88,304,992...88,346,299
G
Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
disease_progression
ISO
RGD
PMID:11861827
RGD:40902828
NCBI chr 6:21,941,147...21,977,115
Ensembl chr 6:21,952,631...21,977,116
G
Fas
Fas cell surface death receptor
ISO
protein:increased expression:liver:
RGD
PMID:12526294
RGD:14700675
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104
G
Faslg
Fas ligand
ISO
protein:increased expression:liver:
RGD
PMID:12526294
RGD:14700675
NCBI chr13:76,680,885...76,706,042
Ensembl chr13:76,688,243...76,695,503
G
Fbxo11
F-box protein 11
ISO
associated with hepatocellular carcinoma;protein:increased expression:liver (human)
RGD
PMID:29603830
RGD:152025266
NCBI chr 6:12,240,348...12,316,223
Ensembl chr 6:12,239,801...12,316,221
G
Foxp3
forkhead box P3
ISO
associated with hepatocellular carcinoma; protein:increased expression:liver
RGD
PMID:21086571
RGD:38548919
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:17,580,380...17,595,894
G
Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518
G
Ifna1
interferon, alpha 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15504288
NCBI chr 5:108,143,240...108,143,809
Ensembl chr 5:108,143,240...108,143,809
G
Ifna2
interferon alpha 2
treatment
ISO
RGD
PMID:8509638
RGD:21406432
NCBI chr 5:108,374,363...108,374,941
Ensembl chr 5:108,374,363...108,374,941
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 | ClinVar Annotator: match by term: IFNAR2-related condition CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:16757563 PMID:25741868 PMID:28492532
NCBI chr11:44,099,574...44,131,941
Ensembl chr11:44,099,753...44,131,937
G
Ifnb1
interferon beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15994231
NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:108,066,650...108,067,487
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15994231 PMID:20610715
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
G
Ifngr1
interferon gamma receptor 1
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 1:16,152,811...16,171,439
Ensembl chr 1:16,152,879...16,171,437
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 chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Il10rb
interleukin 10 receptor subunit beta
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:24033266 PMID:25741868 PMID:28492532 PMID:29248579
NCBI chr11:44,132,471...44,154,062
Ensembl chr11:44,132,189...44,154,053
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 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
G
Il2
interleukin 2
ISO
RGD
PMID:25968473
RGD:14747044
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672
G
Il21
interleukin 21
ISO
mRNA:increased expression:spleen (C57BL/6N mouse)
RGD
PMID:29544722
RGD:127285375
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
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 1:190,603,684...190,609,292
Ensembl chr 1:190,603,522...190,609,258
G
Il2rb
interleukin 2 receptor subunit beta
disease_progression
ISO
RGD
PMID:29307521
RGD:42724467
NCBI chr 7:111,913,828...111,928,537
Ensembl chr 7:111,913,828...111,928,537
G
Il4
interleukin 4
treatment
ISO
DNA:SNPs: :rs2243250,rs2227284(human)
RGD
PMID:28051794
RGD:14696676
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549
G
Il6
interleukin 6
ISO
DNA:SNP:promoter:-174C>G (human)
RGD
PMID:27268603
RGD:14975295
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
G
Irf1
interferon regulatory factor 1
disease_progression
ISO
RGD
PMID:11861827
RGD:40902828
NCBI chr10:38,417,935...38,424,946
Ensembl chr10:38,417,148...38,424,947
G
Kat2a
lysine acetyltransferase 2A
treatment
ISO
RGD
PMID:23913178
RGD:9590262
NCBI chr10:86,132,535...86,140,877
Ensembl chr10:86,132,535...86,140,485
G
Klrk1
killer cell lectin like receptor K1
treatment
ISO
RGD
PMID:17991774 PMID:28318408
RGD:38676490 , RGD:39128174
NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:164,767,946...164,778,382
G
Lox
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr18:48,162,889...48,175,640
Ensembl chr18:48,165,688...48,239,810
G
Loxl2
lysyl oxidase-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr15:51,091,547...51,182,843
Ensembl chr15:51,069,997...51,182,842
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 9:49,696,573...49,822,353
Ensembl chr 9:49,696,700...49,822,353
G
Mbl2
mannose binding lectin 2
disease_progression
ISO
DNA:haplotype:promoter,exon:
RGD
PMID:16231358
RGD:14696834
NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546
G
Mir100
microRNA 100
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 8:50,798,295...50,798,374
Ensembl chr 8:50,798,295...50,798,374
G
Mir122
microRNA 122
severity
ISO
CTD Direct Evidence: marker/mechanism miRNA:decreased expression:liver
CTD RGD
PMID:28545106 PMID:22105316
RGD:14401605
NCBI chr18:61,028,817...61,028,901
G
Mir125b2
microRNA 125b-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr11:29,732,572...29,732,659
G
Mir146a
microRNA 146a
ameliorates
ISO
RGD
PMID:27210312
RGD:126925163
NCBI chr10:28,349,996...28,350,090
G
Mir148a
microRNA 148a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 4:81,664,431...81,664,527
G
Mir155
microRNA 155
ISO
RGD
PMID:29349567
RGD:21408592
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:37,261,114...37,261,178
G
Mir190a
microRNA 190a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 8:76,732,179...76,732,263
G
Mir192
microRNA 192
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 1:212,994,209...212,994,318
Ensembl chr 1:212,994,209...212,994,318
G
Mir193b
microRNA 193b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr10:1,824,944...1,825,026
Ensembl chr10:1,824,944...1,825,026
G
Mir194-2
microRNA 194-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 1:212,994,024...212,994,108
Ensembl chr 1:212,994,024...212,994,108
G
Mir204
microRNA 204
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 1:229,743,461...229,743,570
Ensembl chr 1:229,743,461...229,743,570
G
Mir28
microRNA 28
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr11:89,480,252...89,480,337
G
Mir365b
microRNA 365b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr10:65,184,217...65,184,302
Ensembl chr10:65,184,214...65,184,313
G
Mir455
microRNA 455
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr 5:81,704,834...81,704,911
Ensembl chr 5:81,704,834...81,704,911
G
Mir99a
microRNA 99a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr11:29,687,392...29,687,472
Ensembl chr11:29,687,392...29,687,472
G
Mirlet7c1
microRNA let-7c-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28545106
NCBI chr11:29,688,112...29,688,205
Ensembl chr11:29,688,107...29,688,214
G
Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
mRNA:decreased expression:liver (human)
RGD
PMID:23157389
RGD:126925755
NCBI chr 5:137,259,288...137,281,540
Ensembl chr 5:137,259,288...137,272,177
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 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105
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 8:127,952,161...127,956,230
Ensembl chr 8:127,952,161...127,956,230
G
Nfkbia
NFKB inhibitor alpha
susceptibility
ISO
DNA:SNPs:promoter:-826C>T, -881A>G (rs2233406, rs3138053) (human)
RGD
PMID:25223483
RGD:40902986
NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:78,593,847...78,597,072
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 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270
G
Plau
plasminogen activator, urokinase
severity
ISO
protein:increased expression:plasma
RGD
PMID:18691743
RGD:6483828
NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,505,487...3,512,030
G
Plaur
plasminogen activator, urokinase receptor
severity
ISO
protein:increased expression:plasma
RGD
PMID:18691743
RGD:6483828
NCBI chr 1:89,181,363...89,196,308
Ensembl chr 1:89,178,453...89,198,130
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 5:12,720,683...13,036,077
Ensembl chr 5:12,720,683...13,057,881
G
Prkcsh
PRKCSH beta subunit of glucosidase II
treatment
ISO
RGD
PMID:24769044
RGD:14402034
NCBI chr 8:28,810,836...28,822,503
Ensembl chr 8:28,810,889...28,822,503
G
Pten
phosphatase and tensin homolog
exacerbates
ISO
mRNA:decreased expression:liver (mouse)
RGD
PMID:31604033
RGD:127285593
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330
G
Rnasel
ribonuclease L
ISO
RGD
PMID:11861827
RGD:40902828
NCBI chr13:68,446,641...68,460,804
Ensembl chr13:68,446,882...68,459,557
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 chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653
G
RT1-Bb
RT1 class II, locus Bb
treatment
ISO
RGD
PMID:29979894 PMID:29042702
RGD:14865006 , RGD:14865007
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
G
RT1-Ha
RT1 class II, locus Ha
disease_progression
ISO
DNA:SNP: :rs3077(human)
RGD
PMID:27051043
RGD:14694816
NCBI chr20:4,762,425...4,772,439
Ensembl chr20:4,763,033...4,772,141
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 chr20:4,777,494...4,781,486
Ensembl chr20:4,776,547...4,781,574
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 3:166,179,742...166,214,448
Ensembl chr 3:166,181,588...166,214,410
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:29290974 PMID:29658451 PMID:38749427 More...
NCBI chr 6:106,344,319...106,357,944
Ensembl chr 6:106,344,319...106,357,944
G
Stat4
signal transducer and activator of transcription 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27444301
NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346
G
Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:27312012
RGD:39128205
NCBI chr18:27,606,196...27,612,544
Ensembl chr18:27,606,196...27,611,947
G
Tlr2
toll-like receptor 2
treatment
ISO
RGD
PMID:30008718
RGD:15090859
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
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 chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
G
Tlr9
toll-like receptor 9
susceptibility
ISO
DNA:SNP:exon:2848G>A (rs352140) (human)
RGD
PMID:25388852
RGD:18337480
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148
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 chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Trem1
triggering receptor expressed on myeloid cells 1
ISO
protein:increased expression:plasma
RGD
PMID:27328755
RGD:126925974
NCBI chr 9:20,259,227...20,276,879
Ensembl chr 9:20,261,408...20,276,892
G
Ugt1a1
UDP glucuronosyltransferase family 1 member A1
susceptibility
ISO
DNA:SNP: : rs8175347(human)
RGD
PMID:29239247
RGD:14401574
NCBI chr 9:96,249,143...96,256,264
Ensembl chr 9:96,144,786...96,256,264
G
Ugt1a6
UDP glucuronosyltransferase family 1 member A6
susceptibility
ISO
DNA:SNP: : rs2070959(human)
RGD
PMID:29239247
RGD:14401574
NCBI chr 9:96,195,018...96,256,264
Ensembl chr 9:96,144,786...96,256,264
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 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757
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 1:89,268,721...89,296,619
Ensembl chr 1:89,268,644...89,296,613
G
Zc3h12a
zinc finger CCCH type containing 12A
treatment
ISO
human gene in a mouse model
RGD
PMID:31926181
RGD:39938973
NCBI chr 5:142,661,193...142,670,051
Ensembl chr 5:142,661,199...142,669,985
G
Afp
alpha-fetoprotein
treatment
ISO
RGD
PMID:25914481
RGD:126790581
NCBI chr14:17,857,584...17,875,645
Ensembl chr14:17,857,584...17,875,649
G
Apoa1
apolipoprotein A1
severity
ISO
associated with liver cirrhosis; protein:decreased expression:serum (human)
RGD
PMID:19818291
RGD:25671441
NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:55,423,825...55,425,729
G
C1qc
complement C1q C chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35789393
NCBI chr 5:154,410,845...154,414,208
Ensembl chr 5:154,410,848...154,414,468
G
Ccl5
C-C motif chemokine ligand 5
susceptibility
ISO
associated with Intravenous Substance Abuse;DNA:haplotype: :rs2107538A,rs2280788G,rs2280789C (human)
RGD
PMID:27304910
RGD:14401735
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,738,651...68,824,884
G
Ccr5
C-C motif chemokine receptor 5
no_association susceptibility
ISO
DNA:deletion:cds: ClinVar Annotator: match by term: HCV, RESISTANCE TO CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 PMID:9140404 PMID:9207783 PMID:9466996 PMID:9511755 PMID:9585595 PMID:9600249 PMID:9768627 PMID:10520641 PMID:10615909 PMID:10803840 PMID:11081537 PMID:11403804 PMID:11403814 PMID:11517319 PMID:11781692 PMID:12874407 PMID:15744032 PMID:15863470 PMID:16216086 PMID:16248677 PMID:16418398 PMID:19017985 PMID:19073967 PMID:28492532 PMID:14673528 PMID:27304910 More...
RGD:14401731 , RGD:14401735
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
G
Cd209d
CD209d molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27385120
NCBI chr12:6,689,002...6,695,452
Ensembl chr12:6,689,002...6,698,976
G
Cd274
CD274 molecule
ISO
protein:increased expression:dendritic cell
RGD
PMID:20513078
RGD:41410799
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
G
Cd81
Cd81 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17517063
NCBI chr 1:207,665,274...207,681,094
Ensembl chr 1:207,664,885...207,681,092
G
Cxcl10
C-X-C motif chemokine ligand 10
disease_progression treatment
ISO
protein:increased expression:serum
RGD
PMID:18775023 PMID:24668726 PMID:25512630
RGD:27095893 , RGD:27095945 , RGD:27095943
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261
G
Cyp2b1
cytochrome P450, family 2, subfamily b, polypeptide 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8864187
NCBI chr 1:90,646,098...90,669,762
G
Cyp3a2
cytochrome P450, family 3, subfamily a, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8864187
NCBI chr12:14,321,771...14,343,886
Ensembl chr12:14,321,771...14,343,857
G
F2
coagulation factor II, thrombin
treatment
ISO
RGD
PMID:28129465
RGD:40818432
NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:98,051,960...98,065,246
G
Foxp3
forkhead box P3
ISO
mRNA:increased expression:liver
RGD
PMID:17414718
RGD:38456005
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:17,580,380...17,595,894
G
Grap2
GRB2-related adaptor protein 2
severity
ISO
DNA:SNP:intron: (human)
RGD
PMID:15063762
RGD:126790487
NCBI chr 7:113,997,356...114,071,073
Ensembl chr 7:113,997,307...114,075,367
G
Hfe
homeostatic iron regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15865084
NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,841,252...41,851,208
G
Ifnar1
interferon alpha and beta receptor subunit 1
resistance
ISO
RGD
PMID:21756311
RGD:5147491
NCBI chr11:44,211,769...44,238,206
Ensembl chr11:44,211,845...44,238,205
G
Ifng
interferon gamma
ISO
ClinVar Annotator: match by term: Hepatitis C virus infection, response to therapy of CTD Direct Evidence: marker/mechanism protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
ClinVar CTD OMIM RGD
PMID:17215375 PMID:17553896
RGD:40400745
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
G
Ifnl1
interferon, lambda 1
ISO
DNA:missense mutation, haplotype:exon (rs30461) (human)
RGD
PMID:24269996
RGD:126848746
NCBI chr 1:92,926,184...92,927,830
G
Ifnl3
interferon, lambda 3
treatment disease_progression
ISO
associated with inherited blood coagulation disease;DNA:SNP:enhancer: (rs12979860) (human) CTD Direct Evidence: marker/mechanism associated with Beta-Thalassemia;DNA:SNPs:enhancers: (rs12979860, rs4803221, rs8099917) (human)
CTD OMIM RGD
PMID:24522196 PMID:25864220
RGD:11528544 , RGD:11528545
NCBI chr 1:92,941,988...92,943,628
G
Il10
interleukin 10
no_association
ISO
protein:increased expression:serum DNA:SNPs: :multiple DNA:SNPs: :rs1800896 (human)
RGD
PMID:19302182 PMID:28340949 PMID:28340949
RGD:2308942 , RGD:14975144 , RGD:14975144
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Il12a
interleukin 12A
susceptibility disease_progression
ISO
DNA:SNP:3'UTR: rs568408( G>A)(human) associated with diabetes mellitus;
RGD
PMID:27819525 PMID:30243010
RGD:25440490 , RGD:25440502
NCBI chr 2:155,275,734...155,282,997
Ensembl chr 2:155,275,625...155,282,997
G
Il13
interleukin 13
disease_progression
ISO
protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:17553896 PMID:17553896
RGD:40400745 , RGD:40400745
NCBI chr10:38,290,926...38,293,483
Ensembl chr10:38,290,926...38,293,483
G
Il18
interleukin 18
disease_progression susceptibility treatment
ISO
DNA:SNPs:promoter:-607C>A, -137G>C(human) DNA:SNP:promoter:-607C>A (rs1946518)(human) protein:increased expression:serum: DNA:SNPs:promoter:-137G>C,-607C>A(human)
RGD
PMID:18781864 PMID:21984735 PMID:26486291 PMID:27927859 PMID:19455410
RGD:14695527 , RGD:14696657 , RGD:14696654 , RGD:14696653 , RGD:14695530
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
G
Il1b
interleukin 1 beta
ISO
associated with Glomerulonephritis; protein:increased expression:serum (human)
RGD
PMID:21623661
RGD:7175316
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
G
Il2
interleukin 2
ISO
protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:17553896
RGD:40400745
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672
G
Il4
interleukin 4
susceptibility
ISO
DNA:SNP:promoter:-589C>T (human) protein:decreased expression:serum
RGD
PMID:28368861 PMID:28368861
RGD:14696680 , RGD:14696680
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549
G
Il6
interleukin 6
no_association
ISO
DNA:SNPs: :rs1474348, rs1800796, rs1800797 (human) DNA:SNPs: :multiple
RGD
PMID:28340949 PMID:28340949
RGD:14975144 , RGD:14975144
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
G
Irf5
interferon regulatory factor 5
treatment
ISO
mRNA:increased expression:liver
RGD
PMID:27942586 PMID:28259968
RGD:40924562 , RGD:40924642
NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:59,081,357...59,112,552
G
Irf9
interferon regulatory factor 9
ISO
protein:increased expression:liver
RGD
PMID:26216956
RGD:11074283
NCBI chr15:33,065,422...33,071,881
Ensembl chr15:33,065,659...33,071,879
G
Itpa
inosine triphosphatase
disease_progression
ISO
DNA:missense mutation, splice-site mutaion:exon, intron:p.P32T (rs1127354), rs7270101 (human)
RGD
PMID:24519039
RGD:10766473
NCBI chr 3:138,338,549...138,350,329
Ensembl chr 3:138,338,349...138,350,329
G
Kir3dl1
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
susceptibility
ISO
DNA:deletion:cds
RGD
PMID:28225833
RGD:38676472
NCBI chr 1:78,756,035...78,796,961
Ensembl chr 1:78,757,394...78,796,715
G
Klrc1
killer cell lectin like receptor C1
disease_progression
ISO
protein:increased expression:peripheral blood mononuclear cell, natural killer c
RGD
PMID:17553896
RGD:40400745
NCBI chr 4:164,828,163...164,838,446
Ensembl chr 4:164,828,163...164,838,464
G
Klrk1
killer cell lectin like receptor K1
disease_progression
ISO
mRNA:decreased expression:peripheral blood mono-nuclear cell, natural killer cell (human) protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) associated with HIV Seropositivity;protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD
PMID:26518141 PMID:27091211 PMID:27091211
RGD:11553576 , RGD:40818300 , RGD:40818300
NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:164,767,946...164,778,382
G
Krt8
keratin 8
ISO
ClinVar Annotator: match by term: Hepatitis C virus, susceptibility to
ClinVar
PMID:11372009 PMID:15090596 PMID:15235035 PMID:25741868 PMID:28492532 PMID:33116287 More...
NCBI chr 7:135,002,886...135,010,339
Ensembl chr 7:135,002,894...135,010,403
G
Ldlr
low density lipoprotein receptor
disease_progression
ISO
DNA:polymorphisms:exon, 3' utr (human)
RGD
PMID:12209363
RGD:5490246
NCBI chr 8:28,546,191...28,569,075
Ensembl chr 8:28,546,146...28,570,675
G
Lox
lysyl oxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr18:48,162,889...48,175,640
Ensembl chr18:48,165,688...48,239,810
G
Loxl2
lysyl oxidase-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023247
NCBI chr15:51,091,547...51,182,843
Ensembl chr15:51,069,997...51,182,842
G
Lpl
lipoprotein lipase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17517063
NCBI chr16:25,596,205...25,621,928
Ensembl chr16:25,596,211...25,622,107
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:SNP:exon: DNA:SNPs, haplotype:promoter, exon:
RGD
PMID:19703233 PMID:20570631
RGD:14696815 , RGD:14696832
NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546
G
Mir146a
microRNA 146a
exacerbates
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:28587864
RGD:126925170
NCBI chr10:28,349,996...28,350,090
G
Mir181c
microRNA 181c
IEP
miRNA:decreased expression:liver (human)
RGD
PMID:24789793
RGD:15042895
NCBI chr19:40,888,291...40,888,396
Ensembl chr19:40,888,291...40,888,396
G
Mir21
microRNA 21
disease_progression
ISO
RNA:increased expression:liver
RGD
PMID:30938910 PMID:20625373
RGD:41404662 , RGD:41404667
NCBI chr10:71,902,600...71,902,691
G
Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
mRNA:decreased expression:liver (human)
RGD
PMID:23157389
RGD:126925755
NCBI chr 5:137,259,288...137,281,540
Ensembl chr 5:137,259,288...137,272,177
G
Myc
MYC proto-oncogene, bHLH transcription factor
ISO
mRNA,protein:increased expression:liver
RGD
PMID:23108410
RGD:14695017
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:95,483,105...95,488,028
G
Ncr1
natural cytotoxicity triggering receptor 1
disease_progression
ISO
protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:17553896
RGD:40400745
NCBI chr 1:78,657,409...78,665,255
Ensembl chr 1:78,659,262...78,703,273
G
Ncr3
natural cytotoxicity triggering receptor 3
disease_progression
ISO
protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:17553896
RGD:40400745
NCBI chr20:3,642,912...3,648,425
Ensembl chr20:3,642,912...3,644,188
G
Nfkbia
NFKB inhibitor alpha
susceptibility
ISO
DNA:deletion:promoter: (rs28362491) (human)
RGD
PMID:30056167
RGD:40902826
NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:78,593,847...78,597,072
G
Oprm1
opioid receptor, mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12937158 PMID:17299060
NCBI chr 1:45,565,371...45,818,722
Ensembl chr 1:45,565,371...45,638,756
G
Pdcd1
programmed cell death 1
disease_progression
ISO
DNA:SNP:3' UTR:rs10204525(human)
RGD
PMID:25747035
RGD:11052797
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270
G
Ppia
peptidylprolyl isomerase A
ameliorates
ISO
RGD
PMID:23903655
RGD:150429630
NCBI chr14:85,491,223...85,496,884
Ensembl chr14:85,492,484...85,497,115
G
Ptprc
protein tyrosine phosphatase, receptor type, C
ISO
ClinVar Annotator: match by term: HCV, SUSCEPTIBILITY TO
ClinVar
PMID:25741868 PMID:26915675 PMID:28492532
NCBI chr13:52,147,717...52,259,810
Ensembl chr13:52,147,717...52,259,746
G
Ptx3
pentraxin 3
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:26400151
RGD:11554449
NCBI chr 2:152,797,563...152,803,372
Ensembl chr 2:152,781,955...152,803,372
G
Rig1
RNA sensor RIG-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20170495
NCBI chr 5:60,117,398...60,165,995
Ensembl chr 5:60,117,398...60,165,995
G
RT1-Ba
RT1 class II, locus Ba
disease_progression
ISO
associated with thalassemia;DNA:polymorphism, haplotype: :
RGD
PMID:29248968 PMID:25970464
RGD:14398753 , RGD:14401560
NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653
G
RT1-Bb
RT1 class II, locus Bb
susceptibility disease_progression
ISO
associated with Beta-Thalassemia DNA:polymorphism:cds:HLA-DQB1*03, *0501 (human)
RGD
PMID:21535077 PMID:22155912 PMID:27599887 PMID:27340680
RGD:40902997 , RGD:11041750 , RGD:14928327 , RGD:14928326
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism:cds:HLA-DRB1*11 (human)
RGD
PMID:21535077
RGD:40902997
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165
G
RT1-M3-1
RT1 class Ib, locus M3, gene 1
ISO
RGD
PMID:19775370
RGD:5144114
NCBI chr20:1,329,227...1,333,394
Ensembl chr20:1,329,225...1,333,366
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 3:166,179,742...166,214,448
Ensembl chr 3:166,181,588...166,214,410
G
Scarb1
scavenger receptor class B, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17517063
NCBI chr12:36,957,302...37,023,982
Ensembl chr12:36,957,496...37,023,980
G
Stat1
signal transducer and activator of transcription 1
ISO
protein:increased expression:liver
RGD
PMID:26216956
RGD:11074283
NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:56,911,523...57,077,346
G
Stat2
signal transducer and activator of transcription 2
ISO
protein:increased expression:liver
RGD
PMID:26216956
RGD:11074283
NCBI chr 7:1,287,025...1,302,858
Ensembl chr 7:1,287,024...1,303,459
G
Tert
telomerase reverse transcriptase
disease_progression
ISO
RGD
PMID:24634940
RGD:14696782
NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111
G
Tlr3
toll-like receptor 3
disease_progression severity susceptibility
ISO
associated with glomerulonephritis;mRNA:increased expression:liver: DNA:SNPs: :rs3775290,rs3775291,rs5743312 (human) associated with liver transplant;DNP:SNP:cds:p.Leu412Phe(human) DNA:SNP:cds:p.Leu412Phe(human)
RGD
PMID:21623661 PMID:29947302 PMID:27101936 PMID:23240626
RGD:7175316 , RGD:21079437 , RGD:21079429 , RGD:21079422
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
G
Tlr7
toll-like receptor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27385120
NCBI chr X:30,644,324...30,670,796
Ensembl chr X:30,644,355...30,672,151
G
Tlr8
toll-like receptor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27385120
NCBI chr X:30,708,714...30,733,104
Ensembl chr X:30,708,033...30,737,079
G
Tlr9
toll-like receptor 9
susceptibility
ISO
associated with acquired immunodeficiency syndrome;DNA:SNP:exon: (rs352140) (human) associated with psoriasis;mRNA:increased expession:skin (human)
RGD
PMID:28062211 PMID:27184185
RGD:18337466 , RGD:18337479
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148
G
Trem1
triggering receptor expressed on myeloid cells 1
ISO
protein:increased expression:plasma
RGD
PMID:27328755
RGD:126925974
NCBI chr 9:20,259,227...20,276,879
Ensembl chr 9:20,261,408...20,276,892
G
Apoe
apolipoprotein E
ISO
RGD
PMID:17101197
RGD:7771596
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855
G
C3
complement C3
ISO
RGD
PMID:11509581
RGD:7401276
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339
G
Ccl2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:cornea (mouse)
RGD
PMID:9544579
RGD:8549472
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
G
Cd1d1
CD1d1 molecule
exacerbates
ISO
RGD
PMID:18614643
RGD:127345112
NCBI chr 2:174,721,522...174,725,029
Ensembl chr 2:174,721,522...174,725,029
G
Cd274
CD274 molecule
ISO
RGD
PMID:29669784
RGD:41412169
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
G
Cd40lg
CD40 ligand
ISO
RGD
PMID:11134274
RGD:8547770
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:140,164,302...140,176,475
G
Cd8a
CD8 subunit alpha
ISO
mRNA:increased expression:trigeminal ganglion (mouse)
RGD
PMID:19151393
RGD:124715454
NCBI chr 4:104,924,116...104,928,353
Ensembl chr 4:104,900,833...104,928,358
G
Dock8
dedicator of cytokinesis 8
severity
ISO
RGD
PMID:25776845
RGD:11055046
NCBI chr 1:232,075,468...232,268,830
Ensembl chr 1:232,075,588...232,268,833
G
Igf2bp1
insulin-like growth factor 2 mRNA binding protein 1
ISO
RGD
PMID:30050136
RGD:40902865
NCBI chr10:81,405,021...81,447,814
Ensembl chr10:81,404,797...81,447,846
G
Il18
interleukin 18
treatment
ISO
RGD
PMID:9971824
RGD:8655923
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
G
Il21
interleukin 21
treatment
ISO
mRNA:increased expression:spleen (mouse)
RGD
PMID:19233474 PMID:16406655
RGD:127285367 , RGD:127285372
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
G
Il33
interleukin 33
ISO
protein:increased expression:skin
RGD
PMID:26872602 PMID:26872602
RGD:39939003 , RGD:39939003
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:237,115,572...237,150,901
G
Irf5
interferon regulatory factor 5
susceptibility
ISO
associated with multiple sclerosis;DNA:SNP: :rs3807306 (human)
RGD
PMID:20861862
RGD:40924643
NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:59,081,357...59,112,552
G
Mbl1
mannose binding lectin 1
ISO
protein:increased expression:serum:
RGD
PMID:15498041
RGD:8693727
NCBI chr16:17,063,232...17,069,271
Ensembl chr16:17,060,703...17,069,271
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 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546
G
Nectin1
nectin cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10729168
NCBI chr 8:52,998,662...53,061,745
Ensembl chr 8:52,998,662...53,086,664
G
Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10729168 PMID:11602758 PMID:30319691
NCBI chr 1:88,500,086...88,535,474
Ensembl chr 1:88,500,087...88,535,305
G
Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates
ISO
RGD
PMID:30050136 PMID:25316792
RGD:40902865 , RGD:127229943
NCBI chr15:33,253,071...33,262,025
Ensembl chr15:33,253,071...33,262,025
G
Rpl30
ribosomal protein L30
ISO
protein:increased serine phosphorylation:ribosome
RGD
PMID:7588575
RGD:11039399
NCBI chr 7:67,533,420...67,536,555
Ensembl chr 7:67,465,332...67,536,555
G
Apoe
apolipoprotein E
susceptibility
ISO
DNA:polymorphism:exon:
RGD
PMID:11118260
RGD:7771554
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855
G
Aqp4
aquaporin 4
ISO
RGD
PMID:17454447
RGD:8698664
NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098
G
Calca
calcitonin-related polypeptide alpha
treatment
IDA
RGD
PMID:22761571
RGD:7240516
NCBI chr 1:178,312,636...178,317,588
Ensembl chr 1:178,312,638...178,317,529
G
Calcr
calcitonin receptor
treatment
IDA
RGD
PMID:22761571
RGD:7240516
NCBI chr 4:32,615,955...32,691,075
Ensembl chr 4:32,615,958...32,691,075
G
Ccr2
C-C motif chemokine receptor 2
ISO
RGD
PMID:22377584
RGD:8661752
NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:132,611,410...132,620,059
G
Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:23391218
RGD:8551839
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
G
Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:22377584
RGD:8661752
NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:128,654,833...128,685,983
G
Gdnf
glial cell derived neurotrophic factor
ISO
mRNA:increased expression:brain:
RGD
PMID:15950786
RGD:8657070
NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:58,621,327...58,647,240
G
Il1rl1
interleukin 1 receptor-like 1
severity
ISO
RGD
PMID:26872602
RGD:39939003
NCBI chr 9:50,157,326...50,222,888
Ensembl chr 9:50,204,551...50,222,891
G
Irf3
interferon regulatory factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:104,616,608...104,621,402
Ensembl chr 1:104,616,469...104,621,401
G
Lta
lymphotoxin alpha
ISO
RGD
PMID:11145686
RGD:8548806
NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,623,527...3,625,533
G
Mmp2
matrix metallopeptidase 2
ISO
protein:increased activity:brain
RGD
PMID:15364410
RGD:8547868
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856
G
Mmp9
matrix metallopeptidase 9
treatment
ISO
protein:increased activity:brain
RGD
PMID:20483026 PMID:15364410
RGD:8547867 , RGD:8547868
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442
G
Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
RGD
PMID:17266445
RGD:8661706
NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346
G
Ticam1
TIR domain containing adaptor molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:1,189,717...1,197,730
Ensembl chr 9:1,172,963...1,196,892
G
Tlr2
toll-like receptor 2
disease_progression
ISO IEP
RGD
PMID:14739339 PMID:20806060
RGD:8553026 , RGD:5130178
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
G
Tlr3
toll-like receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
G
Tlr4
toll-like receptor 4
IEP
RGD
PMID:20806060
RGD:5130178
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
G
Tlr9
toll-like receptor 9
resistance
IEP
mRNA:increased expression:cheek (rat)
RGD
PMID:20806060
RGD:5130178
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148
G
Traf3
Tnf receptor-associated factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:136,025,097...136,128,363
Ensembl chr 6:136,027,157...136,128,363
G
Unc93b1
unc-93 homolog B1, TLR signaling regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:210,596,639...210,607,579
Ensembl chr 1:210,573,288...210,607,579
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 chr16:53,001,487...53,004,545
Ensembl chr16:52,994,740...53,004,545
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 chr16:53,048,305...53,069,606
Ensembl chr16:53,047,965...53,069,777
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 chr16:53,023,623...53,048,176
Ensembl chr16:53,023,878...53,048,965
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 chr16:52,818,693...52,867,775
Ensembl chr16:52,818,697...52,868,061
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 chr16:53,650,978...53,675,916
Ensembl chr16:53,650,569...53,676,746
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 chr16:53,720,502...53,741,547
Ensembl chr16:53,718,621...53,740,941
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 chr16:53,587,841...53,647,072
Ensembl chr16:53,587,841...53,647,072
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 chr16:53,909,759...54,029,175
Ensembl chr16:53,909,556...54,028,609
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 chr16:53,690,180...53,714,570
Ensembl chr16:53,691,220...53,716,339
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 chr16:52,976,005...53,001,952
Ensembl chr16:52,976,006...53,001,699
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 chr16:53,876,964...53,896,421
Ensembl chr16:53,876,964...53,896,421
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 chr16:53,085,020...53,116,495
Ensembl chr16:53,085,020...53,116,217
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 chr16:52,805,521...52,809,316
Ensembl chr16:52,805,523...52,811,700
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 chr16:52,867,102...52,971,028
Ensembl chr16:52,858,532...52,971,008
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 chr16:53,167,795...53,481,300
Ensembl chr16:53,167,827...53,358,986
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 7:58,963,319...58,996,357
Ensembl chr 7:58,963,325...58,996,357
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: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 chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
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 chr16:53,004,590...53,023,640
Ensembl chr16:53,004,598...53,023,592
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 1:210,596,639...210,607,579
Ensembl chr 1:210,573,288...210,607,579
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 9:1,189,717...1,197,730
Ensembl chr 9:1,172,963...1,196,892
G
Irf3
interferon regulatory factor 3
susceptibility
ISO
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 | ClinVar Annotator: match by term: IRF3-related condition
OMIM ClinVar
PMID:25741868 PMID:26216125 PMID:26513235 PMID:28492532
NCBI chr 1:104,616,608...104,621,402
Ensembl chr 1:104,616,469...104,621,401
G
Apoe
apolipoprotein E
treatment
ISO
RGD
PMID:18515564
RGD:7771550
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855
G
Atm
ATM serine/threonine kinase
ameliorates
ISO
RGD
PMID:24370835
RGD:126781690
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629
G
Ccl2
C-C motif chemokine ligand 2
severity
ISO
associated with Herpes Simplex, Type 1
RGD
PMID:16997857
RGD:8548890
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
G
Ccl20
C-C motif chemokine ligand 20
ISO
RGD
PMID:15287366
RGD:7483593
NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:91,836,946...91,839,736
G
Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:18798077 PMID:16476970
RGD:8551819 , RGD:8551837
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
G
Ccr6
C-C motif chemokine receptor 6
ISO
RGD
PMID:15287366
RGD:7483593
NCBI chr 1:55,022,037...55,055,857
Ensembl chr 1:55,021,833...55,046,059
G
Cd274
CD274 molecule
ISO
RGD
PMID:16253242
RGD:41410794
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
G
Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:18798077
RGD:8551819
NCBI chr X:70,884,293...70,886,944
Ensembl chr X:70,883,958...70,886,871
G
Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
treatment
ISO
RGD
PMID:15670795
RGD:40902819
NCBI chr 6:21,941,147...21,977,115
Ensembl chr 6:21,952,631...21,977,116
G
Ifnb1
interferon beta 1
treatment
ISO
RGD
PMID:15670795
RGD:40902819
NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:108,066,650...108,067,487
G
Ifng
interferon gamma
ISO
RGD
PMID:12162877
RGD:8157603
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
G
Il10
interleukin 10
treatment
ISO
RGD
PMID:22467659
RGD:7364834
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Il1b
interleukin 1 beta
ISO
mRNA:increased expression:cornea
RGD
PMID:10624423
RGD:7401196
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
G
Il1rn
interleukin 1 receptor antagonist
treatment
ISO
human protein in a mouse model
RGD
PMID:15258192
RGD:8549793
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732
G
Il21
interleukin 21
treatment
ISO
RGD
PMID:29370719 PMID:21204603
RGD:127285376 , RGD:127285545
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
G
Il23a
interleukin 23 subunit alpha
ISO
mRNA;increased expression:trigeminal ganglion (mouse)
RGD
PMID:12162874
RGD:39457946
NCBI chr 7:1,306,320...1,308,434
Ensembl chr 7:1,306,320...1,308,434
G
Kdr
kinase insert domain receptor
treatment
ISO
protein:increased expression:cornea:
RGD
PMID:16951377 PMID:16951377
RGD:8549742 , RGD:8549742
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192
G
Rnasel
ribonuclease L
treatment
ISO
RGD
PMID:15670795
RGD:40902819
NCBI chr13:68,446,641...68,460,804
Ensembl chr13:68,446,882...68,459,557
G
Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
RGD
PMID:17266445
RGD:8661706
NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346
G
Tlr2
toll-like receptor 2
ISO
RGD
PMID:17686871
RGD:7794851
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
G
Tlr4
toll-like receptor 4
ISO
mRNA:increased expression:cornea:
RGD
PMID:17686871 PMID:17667620
RGD:7794851 , RGD:8552970
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
G
Tlr9
toll-like receptor 9
ISO
RGD
PMID:17686871
RGD:7794851
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148
G
Tnf
tumor necrosis factor
ISO
mRNA:increased expression:cornea
RGD
PMID:10624423 PMID:12162877
RGD:7401196 , RGD:8157603
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
F2
coagulation factor II, thrombin
treatment
ISO
RGD
PMID:11449671
RGD:40818431
NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:98,051,960...98,065,246
G
Il10
interleukin 10
ISO
protein:decreased expression::
RGD
PMID:21954956
RGD:8663478
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Il2
interleukin 2
ISO
protein:increased expression::
RGD
PMID:21954956
RGD:8663478
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672
G
Il4
interleukin 4
ISO
protein:decreased expression::
RGD
PMID:21954956
RGD:8663478
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549
G
Tnf
tumor necrosis factor
ISO
protein:increased expression::
RGD
PMID:21954956
RGD:8663478
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Atm
ATM serine/threonine kinase
ameliorates
ISO
RGD
PMID:28701397 PMID:22993144
RGD:126781689 , RGD:126781691
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629
G
C3
complement C3
ISO
RGD
PMID:12196286
RGD:5129514
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339
G
Ccl5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:18768196
RGD:4891912
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,738,651...68,824,884
G
Ccr2
C-C motif chemokine receptor 2
ISO
associated with pulmonary fibrosis
RGD
PMID:18187693
RGD:4144903
NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:132,611,410...132,620,059
G
Cd1d1
CD1d1 molecule
exacerbates
ISO
RGD
PMID:19414797
RGD:127345094
NCBI chr 2:174,721,522...174,725,029
Ensembl chr 2:174,721,522...174,725,029
G
Cd46
CD46 molecule
ISO
associated with Multiple Sclerosis
RGD
PMID:19456309
RGD:6483463
NCBI chr13:109,104,122...109,134,903
G
Hm13
histocompatibility minor 13
treatment
ISO
RGD
PMID:24768597 PMID:31511378
RGD:40903051 , RGD:40903053
NCBI chr 3:161,606,059...161,641,382
Ensembl chr 3:161,606,052...161,644,805
G
Nectin1
nectin cell adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10932188
NCBI chr 8:52,998,662...53,061,745
Ensembl chr 8:52,998,662...53,086,664
G
Ripk3
receptor-interacting serine-threonine kinase 3
ISO
RGD
PMID:31985117
RGD:127229917
NCBI chr15:33,253,071...33,262,025
Ensembl chr15:33,253,071...33,262,025
G
Scn8a
sodium voltage-gated channel alpha subunit 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23382806
NCBI chr 7:133,860,901...134,034,809
Ensembl chr 7:133,861,227...134,030,026
G
Scn9a
sodium voltage-gated channel alpha subunit 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23382806
NCBI chr 3:71,553,185...71,701,377
Ensembl chr 3:71,553,189...71,701,377
G
App
amyloid beta precursor protein
ISO
RGD
PMID:29632166
RGD:13782045
NCBI chr11:37,506,207...37,724,351
Ensembl chr11:37,506,408...37,722,971
G
Bace1
beta-secretase 1
ISO
RGD
PMID:29632166
RGD:13782045
NCBI chr 8:55,038,842...55,061,138
Ensembl chr 8:55,038,823...55,064,918
G
Cd68
Cd68 molecule
ISO
protein:increased expression:brain (human)
RGD
PMID:15488024
RGD:40925943
NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,880,563...54,882,540
G
Cdk5
cyclin-dependent kinase 5
IDA
protein:increased tyrosine phosphorylation:hippocampus
RGD
PMID:28107387
RGD:13506927
NCBI chr 4:11,647,098...11,651,606
Ensembl chr 4:11,647,141...11,652,777
G
Mfn1
mitofusin 1
ISO
associated with HIV Infections;protein:increased expression:frontal cortex, membrane (human)
RGD
PMID:26611103
RGD:12910851
NCBI chr 2:117,240,525...117,288,017
Ensembl chr 2:117,241,759...117,290,190
G
Olig2
oligodendrocyte transcription factor 2
ISO
RGD
PMID:15579294
RGD:40902823
NCBI chr11:43,961,585...43,964,961
Ensembl chr11:43,958,940...43,968,634
G
Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17209195
NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865
G
Aph1b
aph-1 homolog B, gamma secretase subunit
susceptibility
ISO
DNA:SNP:CDS:p.F217L (rs1047552) (human)
RGD
PMID:19774691
RGD:13703126
NCBI chr 8:76,310,380...76,334,146
Ensembl chr 8:76,310,380...76,331,428
G
Clec4m
C-type lectin domain family 4 member M
susceptibility
ISO
DNA:repeats:exon 4 DNA:repeat:
RGD
PMID:25656622 PMID:20217198 PMID:16453266
RGD:11520989 , RGD:39938989 , RGD:39938979
NCBI chr12:6,713,795...6,722,414
Ensembl chr12:6,713,812...6,722,410
G
Klrk1
killer cell lectin like receptor K1
ISO
protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD
PMID:27091211
RGD:40818300
NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:164,767,946...164,778,382
G
Ncr1
natural cytotoxicity triggering receptor 1
treatment
ISO
protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:18724804 PMID:27091211
RGD:40818277 , RGD:40818300
NCBI chr 1:78,657,409...78,665,255
Ensembl chr 1:78,659,262...78,703,273
G
Nefl
neurofilament light chain
treatment
ISO
RGD
PMID:30105502
RGD:127284876
NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515
G
RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphism (human)
RGD
PMID:20224785
RGD:5147578
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165
G
Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013
G
Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
RGD
PMID:12876073
RGD:8694470
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:91,226,180...91,240,169
G
Adrb3
adrenoceptor beta 3
ISO
DNA:missense mutation:cds:p.W64R rs4994 (human)
RGD
PMID:10930169
RGD:5684895
NCBI chr16:71,544,603...71,547,410
Ensembl chr16:71,542,567...71,547,420
G
Il18
interleukin 18
susceptibility
ISO
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
RGD
PMID:20331838 PMID:15353983
RGD:8655915 , RGD:8655934
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
G
Lmna
lamin A/C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18230615
NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072
G
Mmp1
matrix metallopeptidase 1
ISO
DNA:SNP
RGD
PMID:20852404
RGD:8549721
NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:12,943,453...12,963,964
G
Zmpste24
zinc metallopeptidase STE24
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18230615
NCBI chr 5:139,912,395...139,945,532
Ensembl chr 5:139,913,671...139,945,532
G
C3
complement C3
ISO
protein:increased processing:plasma
RGD
PMID:7561187
RGD:11040775
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339
G
Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034
RGD:38549361
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973
G
Foxp3
forkhead box P3
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:28101786 PMID:20945034
RGD:38456004 , RGD:38549361
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:17,580,380...17,595,894
G
Hnrnpa1
heterogeneous nuclear ribonucleoprotein A1
ISO
RGD
PMID:11984596
RGD:10045967
NCBI chr 7:136,253,633...136,260,085
Ensembl chr 7:136,253,278...136,260,085
G
Ifnl1
interferon, lambda 1
ISO
associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:29990995
RGD:126848769
NCBI chr 1:92,926,184...92,927,830
G
Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:28378248
RGD:127285561
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
G
Il27
interleukin 27
ISO
associated with HTLV-I Infections;mRNA:decreased expression:blood (human)
RGD
PMID:24041428
RGD:126790519
NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:190,603,522...190,609,258
G
Klrk1
killer cell lectin like receptor K1
susceptibility
ISO
DNA:SNPs:3'utr, 5'utr: (rs1049174,rs12821887,rs12819494) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:164,767,946...164,778,382
G
Mmp2
matrix metallopeptidase 2
ISO
associated with Sjogren's Syndrome
RGD
PMID:10464559
RGD:8657078
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856
G
Nfkb1
nuclear factor kappa B subunit 1
susceptibility
ISO
DNA:SNP:5'utr: (rs3138045) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr 2:226,689,745...226,805,897
Ensembl chr 2:226,689,745...226,783,088
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
RGD
PMID:25729550
RGD:36174012
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
G
Tnfrsf18
TNF receptor superfamily member 18
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:28101786 PMID:20945034
RGD:38456004 , RGD:38549361
NCBI chr 5:171,901,734...171,904,578
Ensembl chr 5:171,901,717...171,904,576
G
Zeb1
zinc finger E-box binding homeobox 1
ISS
OMIM:159580
MouseDO
NCBI chr17:56,644,397...56,811,155
Ensembl chr17:56,644,397...56,810,745
G
Cd209d
CD209d molecule
susceptibility
ISO
DNA:SNPs,haplotypes:promoter:multiple (human)
RGD
PMID:19264667
RGD:41410814
NCBI chr12:6,689,002...6,695,452
Ensembl chr12:6,689,002...6,698,976
G
Ren
renin
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:29752343
RGD:40400905
NCBI chr13:47,348,312...47,359,539
Ensembl chr13:47,348,143...47,359,543
G
Abcb1a
ATP binding cassette subfamily B member 1A
treatment severity
IEP ISO
mRNA:altered expression:brain, heart, kidney (rat) DNA:SNPs: :4036A>G, 1236C>T (human)
RGD
PMID:24472536 PMID:23133441 PMID:27334660
RGD:11041168 , RGD:39456100 , RGD:39456096
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:26,312,409...26,397,135
G
Abcb1b
ATP-binding cassette, sub-family B member 1B
IDA IEP
mRNA:decreased expression, increased expression:brain, kidney (rat)
RGD
PMID:16790532 PMID:24472536
RGD:1598562 , RGD:11041168
NCBI chr 4:26,197,706...26,280,156
Ensembl chr 4:26,106,903...26,279,567
G
Abce1
ATP binding cassette subfamily E member 1
ISO
DNA:mutations:multiple (human)
RGD
PMID:19657357
RGD:11041871
NCBI chr19:45,109,880...45,134,819
Ensembl chr19:45,109,906...45,134,819
G
Adrb2
adrenoceptor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr18:57,912,760...57,914,802
Ensembl chr18:57,911,348...57,914,803
G
Aicda
activation-induced cytidine deaminase
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:30219203
RGD:127285639
NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:157,444,697...157,456,356
G
Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16903978
NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,891,582...17,911,865
G
Alyref
Aly/REF export factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:106,369,750...106,373,395
Ensembl chr10:106,369,750...106,373,395
G
Apoa1
apolipoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12646808
NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:55,423,825...55,425,729
G
Arap3
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr18:30,058,739...30,085,415
Ensembl chr18:30,058,275...30,084,865
G
Arhgap4
Rho GTPase activating protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr X:156,787,566...156,802,841
Ensembl chr X:156,783,776...156,802,450
G
Arhgdia
Rho GDP dissociation inhibitor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:106,352,858...106,356,347
Ensembl chr10:106,353,491...106,356,347
G
Arhgdib
Rho GDP dissociation inhibitor beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 4:171,554,139...171,573,057
Ensembl chr 4:171,554,140...171,573,068
G
Atm
ATM serine/threonine kinase
ISO
protein:decreased expression:T cell (human)
RGD
PMID:31781094
RGD:126790561
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629
G
Bag3
BAG cochaperone 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17187345
NCBI chr 1:192,533,460...192,557,281
Ensembl chr 1:192,475,828...192,557,280
G
Bax
BCL2 associated X, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:105,076,473...105,086,429
G
Birc2
baculoviral IAP repeat-containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 8:13,253,697...13,273,672
Ensembl chr 8:13,253,706...13,271,911
G
Birc3
baculoviral IAP repeat-containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:13,285,703...13,298,590
G
Bst2
bone marrow stromal cell antigen 2
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS
ClinVar
NCBI chr16:18,250,593...18,254,967
Ensembl chr16:18,251,847...18,254,967
G
C3
complement C3
ISO
RGD
PMID:7561187
RGD:11040775
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339
G
Ccl11
C-C motif chemokine ligand 11
susceptibility
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to CTD Direct Evidence: marker/mechanism protein:increased expression:plasma
ClinVar OMIM CTD RGD
PMID:14571188 PMID:27246604
RGD:14995461
NCBI chr10:67,525,975...67,530,576
Ensembl chr10:67,525,862...67,530,575
G
Ccl2
C-C motif chemokine ligand 2
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:14571188 PMID:27246604
RGD:14995461
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
G
Ccl3
C-C motif chemokine ligand 3
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,948,889...68,950,439
G
Ccl4
C-C motif chemokine ligand 4
susceptibility
ISO
RGD
PMID:16250882
RGD:5683897
NCBI chr10:68,963,893...68,965,728
Ensembl chr10:68,950,289...68,965,722
G
Ccl5
C-C motif chemokine ligand 5
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, delayed disease progression with infection by | ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid disease progression with infection by CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10200305 PMID:12114533 PMID:12610055 PMID:25741868
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,738,651...68,824,884
G
Ccr2
C-C motif chemokine receptor 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD OMIM ClinVar
PMID:9252328 PMID:9662369 PMID:25741868
NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:132,611,410...132,620,059
G
Ccr3
C-C motif chemokine receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10202824
NCBI chr 8:132,463,533...132,511,601
Ensembl chr 8:132,463,788...132,511,593
G
Ccr5
C-C motif chemokine receptor 5
ISO
protein:decreased expression:blood, T cell (human) ClinVar Annotator: match by term: Human immunodeficiency virus type 1, increased perinatal transmission of | ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 PMID:9140404 PMID:9207783 PMID:9399903 PMID:9433423 PMID:9466996 PMID:9511755 PMID:9585595 PMID:9600249 PMID:9742978 PMID:9768627 PMID:10520641 PMID:10559343 PMID:10615909 PMID:10803840 PMID:11081537 PMID:11369664 PMID:11403804 PMID:11403814 PMID:11517319 PMID:11781692 PMID:12610055 PMID:12815099 PMID:12874407 PMID:15744032 PMID:15863470 PMID:16216086 PMID:16248677 PMID:16418398 PMID:19017985 PMID:19073967 PMID:28492532 PMID:33116287 PMID:16379602 More...
RGD:4892094
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
G
Cct3
chaperonin containing TCP1 subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 2:176,063,529...176,088,180
Ensembl chr 2:176,063,526...176,089,925
G
Cct5
chaperonin containing TCP1 subunit 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 2:84,302,621...84,313,773
Ensembl chr 2:84,302,623...84,313,779
G
Cct7
chaperonin containing TCP1 subunit 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 4:119,546,730...119,563,973
Ensembl chr 4:119,546,730...119,563,973
G
Cd163
CD163 molecule
exacerbates treatment
ISO
protein:increased expression:blood plasma (human)
RGD
PMID:23916293 PMID:24594990
RGD:127285682 , RGD:149735575
NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:158,770,749...158,804,146
G
Cd209d
CD209d molecule
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD OMIM ClinVar
PMID:15564514 PMID:15838506 PMID:16379498 PMID:25741868
NCBI chr12:6,689,002...6,695,452
Ensembl chr12:6,689,002...6,698,976
G
Cd274
CD274 molecule
ISO
RGD
PMID:30161254 PMID:30236481
RGD:41412179 , RGD:41412181
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
G
Cd28
Cd28 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7492435
NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:69,545,326...69,689,192
G
Cd40
CD40 molecule
ISO
protein:increased expression:plasmacytoid dendritic cell
RGD
PMID:20559432
RGD:5490533
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847
G
Cd40lg
CD40 ligand
ISO
RGD
PMID:21177803
RGD:5490598
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:140,164,302...140,176,475
G
Cd68
Cd68 molecule
disease_progression
ISO
associated with opioid use;protein:increased expression:brain (human)
RGD
PMID:22797933
RGD:41404655
NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,880,563...54,882,540
G
Cd8a
CD8 subunit alpha
treatment
ISO
RGD
PMID:29384862
RGD:124715453
NCBI chr 4:104,924,116...104,928,353
Ensembl chr 4:104,900,833...104,928,358
G
Cdc42
cell division cycle 42
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 5:154,838,478...154,876,629
Ensembl chr 5:154,839,631...154,876,627
G
Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,153,958...7,164,969
G
Clic1
chloride intracellular channel 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr20:3,769,522...3,778,367
Ensembl chr20:3,769,527...3,778,367
G
Cops6
COP9 signalosome subunit 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr12:22,152,688...22,155,527
Ensembl chr12:22,147,482...22,161,106
G
Cr2
complement C3d receptor 2
ISO
protein:decreased expression:B cell
RGD
PMID:8442917
RGD:127338249
NCBI chr13:109,207,034...109,244,980
Ensembl chr13:109,213,867...109,244,552
G
Crp
C-reactive protein
disease_progression
ISO
RGD
PMID:22448211
RGD:6482303
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514
G
Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868
NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:128,654,833...128,685,983
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
protein:increased expression:plasma
RGD
PMID:27246604
RGD:14995461
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261
G
Cxcl12
C-X-C motif chemokine ligand 12
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CXCL12-related condition | ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
OMIM CTD ClinVar
PMID:9430590 PMID:25741868
NCBI chr 4:152,060,781...152,073,628
Ensembl chr 4:152,060,780...152,073,627
G
Cxcr1
C-X-C motif chemokine receptor 1
ISO
ClinVar Annotator: match by term: CXCR1-related condition | ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:18550579 PMID:25741868 PMID:28492532
NCBI chr 9:83,216,040...83,220,225
Ensembl chr 9:83,215,292...83,226,872
G
Cyp2b3
cytochrome P450, family 2, subfamily b, polypeptide 3
treatment
ISO
DNA:haplotype: :CYP2B6*6(human) DNA:SNPs: :516G>T,983T>C (human)
RGD
PMID:21862974 PMID:18281305
RGD:11098366 , RGD:11097175
NCBI chr 1:90,780,468...90,859,852
G
Ddx1
DEAD-box helicase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24183723
NCBI chr 6:41,725,365...41,756,236
Ensembl chr 6:41,725,367...41,758,302
G
Ddx3x
DEAD-box helicase 3, X-linked
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24183723
NCBI chr X:12,152,346...12,165,983
Ensembl chr X:12,152,346...12,165,983
G
Dnajc7
DnaJ heat shock protein family (Hsp40) member C7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:86,018,977...86,055,419
Ensembl chr10:86,018,961...86,055,489
G
Eif3b
eukaryotic translation initiation factor 3, subunit B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr12:19,310,308...19,334,768
Ensembl chr12:19,310,311...19,334,939
G
Eif4a1
eukaryotic translation initiation factor 4A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:54,883,093...54,888,602
Ensembl chr10:54,883,093...54,888,602
G
Eif4ebp1
eukaryotic translation initiation factor 4E binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr16:71,495,457...71,508,845
Ensembl chr16:71,487,930...71,508,874
G
Eif6
eukaryotic translation initiation factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 3:164,785,162...164,791,410
Ensembl chr 3:164,785,163...164,791,525
G
Emg1
EMG1 N1-specific pseudouridine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 4:159,195,545...159,203,826
Ensembl chr 4:159,195,564...159,203,826
G
Ephb2
Eph receptor B2
ISO
mRNA:decreased expression:Anterior cingulate
RGD
PMID:23314923
RGD:127285026
NCBI chr 5:154,179,065...154,360,459
Ensembl chr 5:154,179,065...154,360,615
G
Fas
Fas cell surface death receptor
ISO
RGD
PMID:10200468
RGD:11049451
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104
G
Fcer2
Fc epsilon receptor II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11500085
NCBI chr12:6,540,697...6,552,364
Ensembl chr12:6,540,703...6,549,374
G
Fcgr3a
Fc gamma receptor 3A
susceptibility
ISO
DNA:polymorphism:exon:p.F158V(rs396991)(human)
RGD
PMID:21187939
RGD:5508390
NCBI chr13:85,782,636...85,792,656
Ensembl chr13:85,782,490...85,792,651
G
Gadd45a
growth arrest and DNA-damage-inducible, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 4:97,484,497...97,486,799
Ensembl chr 4:97,484,502...97,486,807
G
Gc
GC, vitamin D binding protein
disease_progression
ISO
RGD
PMID:2883392
RGD:5509934
NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,916,246...18,951,673
G
Grpel1
GrpE-like 1, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr14:78,517,049...78,522,868
Ensembl chr14:78,517,052...78,522,861
G
Gtf3a
general transcription factor III A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr12:13,250,643...13,258,587
Ensembl chr12:13,250,644...13,258,587
G
Hdgf
heparin binding growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 2:175,668,290...175,677,614
Ensembl chr 2:175,668,324...175,677,225
G
Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518
G
Hsp90aa1
heat shock protein 90 alpha family class A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 6:135,523,604...135,529,687
Ensembl chr 6:135,523,616...135,528,499
G
Hsp90ab1
heat shock protein 90 alpha family class B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 9:22,930,249...22,935,929
Ensembl chr 9:22,931,070...22,935,926
G
Hspa9
heat shock protein family A (Hsp70) member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr18:26,810,004...26,832,958
Ensembl chr18:26,804,774...26,828,398
G
Hspb1
heat shock protein family B (small) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr12:26,430,640...26,432,301
Ensembl chr12:26,430,640...26,432,301
G
Hspd1
heat shock protein family D (Hsp60) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:64,073,611...64,084,037
G
Hsph1
heat shock protein family H (Hsp110) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr12:10,427,368...10,446,602
Ensembl chr12:10,427,297...10,446,891
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
PMID:10202824
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
G
Il10
interleukin 10
treatment
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:10202824 PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 PMID:10666520 More...
RGD:7365087
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Il15
interleukin 15
ISO
protein:decreased expression:plasma
RGD
PMID:20028198
RGD:4892672
NCBI chr19:42,536,160...42,611,349
Ensembl chr19:42,545,346...42,611,348
G
Il17d
interleukin 17D
severity
ISO
Protein:increased expression:blood plasma (human)
RGD
PMID:28592538
RGD:40903074
NCBI chr15:35,786,898...35,804,391
Ensembl chr15:35,786,898...35,804,391
G
Il18
interleukin 18
treatment
ISO
protein:increased expression:serum: associated with hepatitis C; protein:increased expression:serum:
RGD
PMID:27927859 PMID:27927859
RGD:14696653 , RGD:14696653
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
G
Il19
interleukin 19
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
ClinVar
PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 More...
NCBI chr13:44,949,989...44,958,714
Ensembl chr13:44,949,989...44,958,714
G
Il2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672
G
Il21
interleukin 21
ISO
associated with hepatitis B;protein:decreased expression:blood serum (human)
RGD
PMID:22948268
RGD:127285366
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
G
Il21r
interleukin 21 receptor
ISO
RGD
PMID:22530560
RGD:6892924
NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:189,598,558...189,626,342
G
Il27
interleukin 27
ameliorates
ISO
protein:increased expression:blood plasma (human) associated with hepatitis C;protein:increased expression:blood plasma (human)
RGD
PMID:28338007 PMID:24816922
RGD:126790518 , RGD:126790553
NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:190,603,522...190,609,258
G
Il2ra
interleukin 2 receptor subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr17:71,759,802...71,808,475
Ensembl chr17:71,759,802...71,808,507
G
Il4r
interleukin 4 receptor
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:189,544,988...189,570,636
G
Il6
interleukin 6
ISO
protein:increased expression:serum
RGD
PMID:1768380
RGD:10449449
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
G
Ilf2
interleukin enhancer binding factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 2:178,256,927...178,268,773
Ensembl chr 2:178,248,585...178,268,920
G
Ipo7
importin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:173,497,472...173,537,707
Ensembl chr 1:173,497,503...173,536,778
G
Kir3dl1
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
susceptibility
ISO
DNA:deletion:cds CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17496894 PMID:31863692
RGD:38676444
NCBI chr 1:78,756,035...78,796,961
Ensembl chr 1:78,757,394...78,796,715
G
Kmt2e
lysine methyltransferase 2E
ISO
protein:increased expression:peripheral blood, T cell, CD4+ (human)
RGD
PMID:16046540
RGD:9588555
NCBI chr 4:12,550,570...12,655,329
Ensembl chr 4:12,550,570...12,619,721
G
Kpnb1
karyopherin subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:82,642,082...82,670,856
Ensembl chr10:82,642,082...82,670,856
G
Lck
LCK proto-oncogene, Src family tyrosine kinase
IDA
protein:increased tyrosine phosphorylation:T cell
RGD
PMID:16828835
RGD:1600221
NCBI chr 5:147,172,642...147,201,267
Ensembl chr 5:147,172,642...147,201,267
G
Lepr
leptin receptor
ISO
protein:increased phosphorylation:peripheral blood mononuclear cell
RGD
PMID:12100031
RGD:21079471
NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:121,474,099...121,591,215
G
Lyn
LYN proto-oncogene, Src family tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 5:21,437,127...21,553,097
Ensembl chr 5:21,437,084...21,554,461
G
Map2
microtubule-associated protein 2
ISO
RGD
PMID:19966940
RGD:6483319
NCBI chr 9:75,173,038...75,431,606
Ensembl chr 9:75,288,262...75,428,459
G
Maz
MYC associated zinc finger protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:191,060,271...191,065,722
Ensembl chr 1:191,060,280...191,065,339
G
Mbl2
mannose binding lectin 2
no_association severity
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism:exon:
CTD RGD
PMID:16960176 PMID:26348711 PMID:19796822
RGD:12910931 , RGD:12910857
NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546
G
Mdm2
MDM2 proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:55,176,560...55,200,791
G
Mki67
marker of proliferation Ki-67
ISO
RGD
PMID:21576701
RGD:6483531
NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:199,926,150...199,952,593
G
Mvb12a
multivesicular body subunit 12A
ISO
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS
ClinVar
NCBI chr16:18,286,231...18,291,096
Ensembl chr16:18,286,231...18,292,583
G
Myh9
myosin, heavy chain 9
ISO
protein:decreased expression:glomerulus
RGD
PMID:22313957
RGD:6903274
NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:111,224,291...111,304,963
G
Nefl
neurofilament light chain
treatment
ISO
RGD
PMID:30005007
RGD:127285390
NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515
G
Nefm
neurofilament medium chain
ISO
protein:increased serine/threonine phosphorylation:brain
RGD
PMID:26033855
RGD:40886309
NCBI chr15:46,535,857...46,541,161
Ensembl chr15:46,535,517...46,541,163
G
Nup88
nucleoporin 88
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:56,166,486...56,190,829
Ensembl chr10:56,166,486...56,191,383
G
Nutf2
nuclear transport factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr19:50,662,168...50,683,457
Ensembl chr19:50,662,394...50,683,454
G
Odc1
ornithine decarboxylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 6:46,058,439...46,065,148
Ensembl chr 6:46,058,463...46,065,146
G
Ogg1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29709520
NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:148,030,349...148,037,604
G
Oprm1
opioid receptor, mu 1
IEP
mRNA:increased expression:macrophage
RGD
PMID:17553897
RGD:2316609
NCBI chr 1:45,565,371...45,818,722
Ensembl chr 1:45,565,371...45,638,756
G
Pdcd1
programmed cell death 1
ISO
RGD
PMID:30161254
RGD:41412179
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270
G
Pla2g2a
phospholipase A2 group IIA
ISO
RGD
PMID:18096355
RGD:6482728
NCBI chr 5:156,359,725...156,362,302
Ensembl chr 5:156,359,725...156,362,297
G
Plaur
plasminogen activator, urokinase receptor
disease_progression
ISO
protein:increased expression:plasma
RGD
PMID:21384094 PMID:20229356
RGD:6484120 , RGD:6484128
NCBI chr 1:89,181,363...89,196,308
Ensembl chr 1:89,178,453...89,198,130
G
Pomc
proopiomelanocortin
ISO
mRNA:decreased expression:striatum
RGD
PMID:20651230
RGD:407571693
NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173
G
Ppia
peptidylprolyl isomerase A
disease_progression
ISO
DNA:SNPs:promotor, intron 1: 1604C>G, 2653A>C (rs8177826, rs3735481) (human)
RGD
PMID:17590083
RGD:150383341
NCBI chr14:85,491,223...85,496,884
Ensembl chr14:85,492,484...85,497,115
G
Ppib
peptidylprolyl isomerase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 8:75,498,966...75,504,823
Ensembl chr 8:75,498,797...75,504,847
G
Prf1
perforin 1
ISO
DNA:SNP: :rs885822 (human)
RGD
PMID:20523897 PMID:21157294
RGD:6482808 , RGD:6482819
NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,788,972...29,795,124
G
Prpf8
pre-mRNA processing factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:60,829,778...60,852,887
Ensembl chr10:60,829,778...60,852,887
G
Psma4
proteasome 20S subunit alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 8:64,236,520...64,243,980
Ensembl chr 8:64,236,783...64,243,979
G
Psma5
proteasome 20S subunit alpha 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 2:198,584,502...198,607,867
Ensembl chr 2:198,584,505...198,607,867
G
Psma6
proteasome 20S subunit alpha 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 6:78,500,676...78,531,693
Ensembl chr 6:78,500,736...78,531,717
G
Psmb10
proteasome 20S subunit beta 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr19:50,740,808...50,743,292
Ensembl chr19:50,740,811...50,743,210
G
Psmb4
proteasome 20S subunit beta 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 2:185,131,787...185,134,561
Ensembl chr 2:185,131,786...185,135,287
G
Psmc3
proteasome 26S subunit, ATPase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 3:97,487,643...97,493,025
Ensembl chr 3:97,487,632...97,499,176
G
Psmc5
proteasome 26S subunit, ATPase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:91,687,553...91,693,487
Ensembl chr10:91,686,295...91,695,921
G
Psmd13
proteasome 26S subunit, non-ATPase 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:205,394,248...205,406,525
Ensembl chr 1:205,393,746...205,411,651
G
Psmd3
proteasome 26S subunit, non-ATPase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:84,139,249...84,151,879
Ensembl chr10:84,139,677...84,151,878
G
Psmd6
proteasome 26S subunit, non-ATPase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr15:13,532,675...13,542,682
Ensembl chr15:13,532,675...13,542,682
G
Psmd8
proteasome 26S subunit, non-ATPase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:93,601,857...93,608,689
Ensembl chr 1:93,601,853...93,608,689
G
Psme1
proteasome activator subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr15:33,038,962...33,041,849
Ensembl chr15:33,038,597...33,041,848
G
Psme2
proteasome activator subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr15:33,048,452...33,053,055
Ensembl chr15:33,048,457...33,053,102
G
Psme3
proteasome activator subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:86,757,933...86,765,719
Ensembl chr10:86,757,899...86,818,033
G
Psme4
proteasome activator subunit 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr14:108,706,643...108,810,330
Ensembl chr14:108,706,643...108,810,328
G
Ptch1
patched 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461
G
Ptgs2
prostaglandin-endoperoxide synthase 2
IEP
mRNA, protein:increased expression:brain
RGD
PMID:21846384
RGD:5508195
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320
G
Rab11b
RAB11B, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 7:15,223,613...15,236,754
Ensembl chr 7:15,223,534...15,236,756
G
Rab32
RAB32, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:6,766,448...6,781,258
Ensembl chr 1:6,766,455...6,781,258
G
Ran
RAN, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr12:33,311,155...33,314,339
Ensembl chr12:33,311,158...33,314,317
G
Ranbp1
RAN binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr11:96,246,912...96,255,145
Ensembl chr11:96,246,740...96,255,145
G
RT1-Ba
RT1 class II, locus Ba
ISO
DNA:polymorphisms (human)
RGD
PMID:18427198
RGD:5147817
NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653
G
RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphisms: :multiple (human) DNA:polymorphisms (human)
RGD
PMID:20345872 PMID:18427198
RGD:5147659 , RGD:5147817
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
G
RT1-Da
RT1 class II, locus Da
ISO
RGD
PMID:21427211
RGD:5490157
NCBI chr20:4,515,393...4,520,387
Ensembl chr20:4,513,908...4,520,383
G
RT1-Db1
RT1 class II, locus Db1
disease_progression susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphism:cds:HLA-DRB1*08, HLA-B*35, HLA-C*04 (human) DNA:polymorphisms: :multiple (human)
RGD
PMID:28244954 PMID:21257739 PMID:20345872
RGD:40903000 , RGD:5147591 , RGD:5147659
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165
G
Selp
selectin P
ISO
RGD
PMID:22156911
RGD:6218986
NCBI chr13:79,009,379...79,044,994
Ensembl chr13:79,009,475...79,044,987
G
Serpina1
serpin family A member 1
susceptibility
ISO
CTD Direct Evidence: therapeutic DNA:polymorphism:cds:p.Glu264Val(human)
CTD RGD
PMID:17448989 PMID:24122823
RGD:14695057
NCBI chr 6:128,631,101...128,653,125
Ensembl chr 6:128,619,382...128,660,703
G
Sf3a3
splicing factor 3a, subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 5:142,246,556...142,272,053
Ensembl chr 5:142,246,568...142,272,052
G
Sfpq
splicing factor proline and glutamine rich
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 5:144,621,678...144,637,930
Ensembl chr 5:144,622,476...144,637,926
G
Sigmar1
sigma non-opioid intracellular receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16204638
NCBI chr 5:61,700,021...61,702,799
Ensembl chr 5:61,700,021...61,702,855
G
Sirt1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19720090
NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,305,476...25,328,000
G
Slc11a1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr 9:83,406,327...83,417,252
Ensembl chr 9:83,406,427...83,417,238
G
Snrpd3
small nuclear ribonucleoprotein D3 polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr20:13,129,555...13,145,100
Ensembl chr20:13,109,294...13,145,763
G
Socs1
suppressor of cytokine signaling 1
ISO
mRNA:decreased expression:uterine cervix
RGD
PMID:16878360
RGD:2298904
NCBI chr10:5,389,574...5,391,265
Ensembl chr10:5,389,334...5,391,847
G
Socs3
suppressor of cytokine signaling 3
ISO
mRNA:decreased expression:uterine cervix
RGD
PMID:16878360
RGD:2298904
NCBI chr10:103,692,579...103,695,975
Ensembl chr10:103,690,976...103,704,825
G
Srf
serum response factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 9:21,924,050...21,933,338
Ensembl chr 9:21,924,076...21,933,337
G
Srsf1
serine and arginine rich splicing factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr10:73,335,519...73,342,549
Ensembl chr10:73,336,422...73,342,548
G
Srsf9
serine and arginine rich splicing factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr12:46,938,948...46,945,213
Ensembl chr12:46,938,950...46,945,283
G
Sting1
stimulator of interferon response cGAMP interactor 1
ISO
mRNA:increased expression:multiple tissues (human)
RGD
PMID:24367701
RGD:39128218
NCBI chr18:27,606,196...27,612,544
Ensembl chr18:27,606,196...27,611,947
G
Taf9
TATA-box binding protein associated factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 2:33,528,388...33,532,395
Ensembl chr 2:33,531,368...33,536,078
G
Tlr3
toll-like receptor 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD OMIM ClinVar
PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:24033266 PMID:25339207 PMID:25741868 PMID:26513235 PMID:28046022 PMID:28368532 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:33174085 PMID:34813006 More...
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:1768380
RGD:10449449
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8811349
NCBI chr 5:162,406,387...162,451,620
Ensembl chr 5:162,406,387...162,451,620
G
Trem1
triggering receptor expressed on myeloid cells 1
ISO
mRNA,protein:increased expression:peripheral blood mononuclear cell, macrophage, plasma
RGD
PMID:31260499
RGD:126925971
NCBI chr 9:20,259,227...20,276,879
Ensembl chr 9:20,261,408...20,276,892
G
Trim5
tripartite motif-containing 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15249687
NCBI chr 1:168,132,277...168,149,263
Ensembl chr 1:168,132,308...168,141,657
G
U2af1
U2 small nuclear RNA auxiliary factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr20:9,744,206...9,755,146
Ensembl chr20:9,744,207...9,755,094
G
Vdr
vitamin D receptor
ISO
DNA:SNPs:3' UTR (human)
RGD
PMID:18712587
RGD:4889839
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757
G
Yy1
YY1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 6:133,471,615...133,500,875
Ensembl chr 6:133,471,562...133,497,257
G
Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
susceptibility
ISO
DNA:polymorphism:cds:allele AB (human)
RGD
PMID:6189297 PMID:4375858
RGD:5128836 , RGD:39938844
NCBI chr 3:30,560,172...30,604,758
G
Atf3
activating transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr13:105,274,103...105,331,653
Ensembl chr13:105,282,440...105,295,750
G
C3
complement C3
ISO
RGD
PMID:21408070
RGD:5129492
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339
G
Casp1
caspase 1
ISO
RGD
PMID:19362023
RGD:5130181
NCBI chr 8:10,746,338...10,882,295
Ensembl chr 8:10,746,333...10,882,275
G
Cat
catalase
ISO
RGD
PMID:16804020 PMID:20653246 PMID:19959187
RGD:5130864 , RGD:5130201 , RGD:5130744
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:110,297,342...110,329,526
G
Ccl11
C-C motif chemokine ligand 11
ISO
associated with Asthma;protein:increased expression:respiratory system fluid/secretion
RGD
PMID:20656925 PMID:12707338
RGD:4145452 , RGD:4145439
NCBI chr10:67,525,975...67,530,576
Ensembl chr10:67,525,862...67,530,575
G
Ccl2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:lung CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23326326 PMID:20967263
RGD:4891425
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
G
Ccl28
C-C motif chemokine ligand 28
resistance
ISO
RGD
PMID:19847203
RGD:4892196
NCBI chr 2:53,334,071...53,358,709
Ensembl chr 2:53,334,071...53,358,709
G
Ccl5
C-C motif chemokine ligand 5
susceptibility
ISO
protein:increased expression:lung (mouse)
RGD
PMID:20656925 PMID:16208318
RGD:4145452 , RGD:4892131
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,738,651...68,824,884
G
Ccr5
C-C motif chemokine receptor 5
severity
ISO
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)
RGD
PMID:19039768 PMID:18617426 PMID:20875295
RGD:4892119 , RGD:4892122 , RGD:4892063
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
G
Cd14
CD14 molecule
ISO
RGD
PMID:17825924
RGD:4144809
NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,608,883...28,611,292
G
Cd209c
CD209c molecule
susceptibility
ISO
RGD
PMID:21191006
RGD:5131189
NCBI chr12:6,732,890...6,741,757
Ensembl chr12:6,733,287...6,741,808
G
Cd209d
CD209d molecule
susceptibility
ISO
RGD
PMID:21191006
RGD:5131189
NCBI chr12:6,689,002...6,695,452
Ensembl chr12:6,689,002...6,698,976
G
Cd28
Cd28 molecule
ISO
RGD
PMID:21389258
RGD:5131611
NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:69,545,326...69,689,192
G
Cd40
CD40 molecule
ISO
RGD
PMID:19922665
RGD:5132270
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847
G
Cd80
Cd80 molecule
ISO
RGD
PMID:19922665 PMID:10604996
RGD:5132270 , RGD:5132623
NCBI chr11:75,760,073...75,798,978
Ensembl chr11:75,760,147...75,797,540
G
Cd86
CD86 molecule
ISO
protein:increased expression:mediastinal lymph node, B cell (mouse)
RGD
PMID:19933871
RGD:4892570
NCBI chr11:77,647,565...77,706,178
Ensembl chr11:77,647,600...77,725,361
G
Crp
C-reactive protein
ISO
protein:increased expression:serum
RGD
PMID:21509252
RGD:5131277
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514
G
Csf2
colony stimulating factor 2
ISO
RGD
PMID:20427198 PMID:21474645
RGD:5131472 , RGD:5131470
NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,887,692...38,890,031
G
Cxcl1
C-X-C motif chemokine ligand 1
ISO
protein:increased expression:respiratory system fluid/secretion protein:increased expression:lung, serum
RGD
PMID:20656925 PMID:17348295
RGD:4145452 , RGD:4145366
NCBI chr14:17,477,542...17,479,321
Ensembl chr14:17,477,549...17,479,811
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261
G
Cxcl2
C-X-C motif chemokine ligand 2
ISO
mRNA:increased expression:lung
RGD
PMID:21251691 PMID:20967263
RGD:5135026 , RGD:4891425
NCBI chr14:17,465,210...17,467,255
Ensembl chr14:17,465,242...17,467,255
G
Ddx60
DEXD/H-box helicase 60
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr16:33,087,940...33,208,843
Ensembl chr16:33,087,988...33,208,839
G
Egr1
early growth response 1
ISO
mRNA:increased expression:frontal cortex (mouse)
RGD
PMID:21289196
RGD:5131660
NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,736,838...26,740,843
G
Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 6:21,941,147...21,977,115
Ensembl chr 6:21,952,631...21,977,116
G
Foxp2
forkhead box P2
ISO
RGD
PMID:18248790
RGD:11536002
NCBI chr 4:44,099,848...44,677,700
Ensembl chr 4:44,099,959...44,677,696
G
Gbp1
guanylate binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 2:234,071,366...234,106,012
Ensembl chr 2:234,190,708...234,206,802 Ensembl chr 2:234,190,708...234,206,802
G
Herc6
HECT and RLD domain containing E3 ubiquitin protein ligase family member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 4:88,854,612...88,897,043
Ensembl chr 4:88,854,640...88,896,993
G
Ifi27
interferon, alpha-inducible protein 27
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 6:128,355,312...128,361,783
Ensembl chr 6:128,355,079...128,361,781
G
Ifi35
interferon-induced protein 35
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr10:86,881,270...86,889,523
Ensembl chr10:86,887,122...86,889,750
G
Ifi44
interferon-induced protein 44
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 2:243,286,050...243,303,869
Ensembl chr 2:243,286,052...243,306,877
G
Ifi44l
interferon-induced protein 44-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 2:243,328,629...243,366,404
Ensembl chr 2:243,328,723...243,366,404
G
Ifih1
interferon induced with helicase C domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968
G
Ifit2
interferon-induced protein with tetratricopeptide repeats 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 1:241,515,735...241,521,799
Ensembl chr 1:241,515,709...241,521,798
G
Ifit3
interferon-induced protein with tetratricopeptide repeats 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 1:241,527,326...241,532,469
Ensembl chr 1:241,526,880...241,532,521
G
Ifitm3
interferon induced transmembrane protein 3
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Influenza, severe, susceptibility to
CTD ClinVar OMIM
PMID:20943977 PMID:22446628 PMID:23326326
NCBI chr 1:205,540,649...205,541,758
Ensembl chr 1:205,481,168...205,547,920
G
Il10
interleukin 10
susceptibility
ISO
RGD
PMID:20200252
RGD:4140426
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Il12b
interleukin 12B
ISO
RGD
PMID:16389596
RGD:4145426
NCBI chr10:29,390,300...29,405,194
Ensembl chr10:29,389,905...29,405,194
G
Il13
interleukin 13
ISO
protein:increased expression:serum
RGD
PMID:20003352
RGD:4888530
NCBI chr10:38,290,926...38,293,483
Ensembl chr10:38,290,926...38,293,483
G
Il15
interleukin 15
ISO
mRNA, protein:increased expression:lung
RGD
PMID:20212069 PMID:19234203 PMID:21098221
RGD:4996471 , RGD:4996472 , RGD:4994196
NCBI chr19:42,536,160...42,611,349
Ensembl chr19:42,545,346...42,611,348
G
Il15ra
interleukin 15 receptor subunit alpha
ISO
RGD
PMID:21098221
RGD:4994196
NCBI chr17:71,712,141...71,742,072
Ensembl chr17:71,712,141...71,742,149
G
Il17a
interleukin 17A
ISO
mRNA, protein:increased expression:lung
RGD
PMID:19783685 PMID:19265125
RGD:4889102 , RGD:4889150
NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:30,640,844...30,644,331
G
Il17ra
interleukin 17 receptor A
ISO
RGD
PMID:19783685
RGD:4889102
NCBI chr 4:155,339,742...155,362,382
Ensembl chr 4:155,339,400...155,362,382
G
Il18
interleukin 18
ISO
RGD
PMID:15606801
RGD:4889964
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
G
Il1a
interleukin 1 alpha
ISO
protein:increased expression:lung
RGD
PMID:11535264
RGD:4142860
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013
G
Il1b
interleukin 1 beta
ISO
RGD
PMID:20438620
RGD:4142822
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
G
Il1rn
interleukin 1 receptor antagonist
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:9439800 PMID:20840779
RGD:4143228 , RGD:4143203
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732
G
Il2
interleukin 2
ISO
protein:increased expression:serum
RGD
PMID:21603856
RGD:5147905
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672
G
Il22
interleukin 22
ISO
RGD
PMID:21178015 PMID:20504940
RGD:5147404 , RGD:5147405
NCBI chr 7:55,687,061...55,691,526
Ensembl chr 7:55,686,896...55,692,201
G
Il4
interleukin 4
ISO
RGD
PMID:21092162
RGD:5128546
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549
G
Il6
interleukin 6
ISO
RGD
PMID:20731583
RGD:4143268
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
G
Irf7
interferon regulatory factor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 1:205,796,956...205,800,543
Ensembl chr 1:205,796,959...205,800,023
G
Isg15
ISG15 ubiquitin-like modifier
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 5:172,066,369...172,067,656
Ensembl chr 5:172,066,369...172,067,656
G
Lamp3
lysosomal-associated membrane protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr11:94,657,817...94,726,451
Ensembl chr11:94,661,399...94,726,195
G
Ly6e
lymphocyte antigen 6 family member E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 7:108,815,970...108,820,444
Ensembl chr 7:108,816,887...108,820,443
G
Lyst
lysosomal trafficking regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26597256
NCBI chr17:93,225,509...93,427,650
Ensembl chr17:93,225,540...93,427,650
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased activity:lung, heart, brain
RGD
PMID:20299740
RGD:5130855
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442
G
Mx1
MX dynamin like GTPase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr11:50,269,056...50,294,699
Ensembl chr11:50,269,057...50,292,904
G
Mx2
MX dynamin like GTPase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr11:50,375,101...50,399,373
Ensembl chr11:50,375,191...50,402,478
G
Nos1
nitric oxide synthase 1
ISO
protein:increased expression:hippocampus
RGD
PMID:9552178
RGD:5132870
NCBI chr12:44,276,011...44,456,371
Ensembl chr12:44,287,614...44,371,837
G
Nos2
nitric oxide synthase 2
ISO
mRNA:increased expression:olfactory epithelium mRNA,protein:increased expression:brain
RGD
PMID:17674769 PMID:18080188 PMID:17030871
RGD:4891919 , RGD:4891937 , RGD:4891952
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:64,313,335...64,401,880
G
Oas1a
2'-5' oligoadenylate synthetase 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr12:41,330,423...41,341,130
Ensembl chr12:41,285,211...41,341,128
G
Oas2
2'-5' oligoadenylate synthetase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr12:41,464,568...41,492,036
Ensembl chr12:41,467,315...41,495,881
G
Oas3
2'-5'-oligoadenylate synthetase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr12:41,439,645...41,463,392
Ensembl chr12:41,439,643...41,464,420
G
Oasl
2'-5'-oligoadenylate synthetase-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr12:47,343,551...47,356,509
Ensembl chr12:47,343,551...47,356,483
G
Parp12
poly (ADP-ribose) polymerase family, member 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 4:68,793,411...68,851,214
Ensembl chr 4:68,806,100...68,850,541
G
Plscr1
phospholipid scramblase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 8:101,662,512...101,684,474
Ensembl chr 8:101,664,056...101,684,614
G
Prf1
perforin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26597256
NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,788,972...29,795,124
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:16272346
RGD:5143925
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320
G
Rig1
RNA sensor RIG-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 5:60,117,398...60,165,995
Ensembl chr 5:60,117,398...60,165,995
G
Rsad2
radical S-adenosyl methionine domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 6:48,774,985...48,788,245
Ensembl chr 6:48,774,985...48,788,320
G
RT1-Db1
RT1 class II, locus Db1
ISO
RGD
PMID:19386707
RGD:4144816
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165
G
RT1-M3-1
RT1 class Ib, locus M3, gene 1
ISO
RGD
PMID:21087648
RGD:5144131
NCBI chr20:1,329,227...1,333,394
Ensembl chr20:1,329,225...1,333,366
G
Rtp4
receptor (chemosensory) transporter protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr11:90,741,992...90,840,061
Ensembl chr11:90,741,992...90,753,851
G
Samd9
sterile alpha motif domain containing 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 4:32,119,318...32,139,008
Ensembl chr 4:32,117,137...32,171,759
G
Serping1
serpin family G member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 3:90,249,410...90,259,299
Ensembl chr 3:90,249,423...90,258,717
G
Sftpd
surfactant protein D
IMP
RGD
PMID:16787926
RGD:4143518
NCBI chr16:17,080,575...17,093,047
Ensembl chr16:17,080,567...17,094,036
G
Siglec1
sialic acid binding Ig like lectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 3:138,740,171...138,759,966
Ensembl chr 3:138,741,019...138,759,881
G
Slc22a8
solute carrier family 22 member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23129053
NCBI chr 1:214,925,506...214,945,516
Ensembl chr 1:214,925,508...214,946,588
G
Stat1
signal transducer and activator of transcription 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:56,911,523...57,077,346
G
Tdrd7
tudor domain containing 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 5:65,034,317...65,108,165
Ensembl chr 5:65,034,341...65,108,161
G
Tlr2
toll-like receptor 2
ISO
protein:increased expression:monocyte
RGD
PMID:18657324
RGD:4145339
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
G
Tlr3
toll-like receptor 3
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:16789835 PMID:18654661
RGD:5129219 , RGD:5129136
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
G
Tmprss11d
transmembrane serine protease 11D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20237084 PMID:23072892
NCBI chr14:22,062,129...22,124,189
Ensembl chr14:22,062,131...22,124,505
G
Tmprss4
transmembrane serine protease 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26889029
NCBI chr 8:54,372,805...54,405,157
Ensembl chr 8:54,372,805...54,405,157
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:21062445
RGD:5128683
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Tnfaip6
TNF alpha induced protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 3:56,911,398...56,930,797
Ensembl chr 3:56,911,252...56,930,796
G
Tnfrsf1a
TNF receptor superfamily member 1A
ISO
protein:increased expression:serum (human)
RGD
PMID:17182684 PMID:19497758
RGD:5131157 , RGD:5131432
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816
G
Tnfsf10
TNF superfamily member 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 2:112,136,550...112,155,903
G
Tor1b
torsin family 1, member B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 3:34,640,929...34,647,023
Ensembl chr 3:34,640,931...34,647,027
G
Trex1
three prime repair exonuclease 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 8:118,585,082...118,586,382
Ensembl chr 8:118,585,081...118,586,083
G
Ube2l6
ubiquitin-conjugating enzyme E2L 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr 3:90,279,705...90,294,721
Ensembl chr 3:90,279,668...90,294,717
G
Ugcg
UDP-glucose ceramide glucosyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33639165
NCBI chr 5:78,828,006...78,860,725
Ensembl chr 5:78,828,006...78,860,417
G
Xaf1
XIAP associated factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr10:57,415,935...57,428,348
Ensembl chr10:57,415,658...57,428,349
G
Xist
X inactive specific transcript
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr X:72,540,753...72,558,266
G
Zcchc2
zinc finger CCHC-type containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23326326
NCBI chr13:22,621,275...22,708,232
Ensembl chr13:22,634,171...22,708,464
G
Adipoq
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:plasma
RGD
PMID:16115302
RGD:5686674
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:91,226,180...91,240,169
G
Cd163
CD163 molecule
ISO
associated with human immunodeficiency virus infectious disease, opioid abuse;protein:increased expression:blood plasma (human)
RGD
PMID:31687981
RGD:149735532
NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:158,770,749...158,804,146
G
Col1a1
collagen type I alpha 1 chain
ISO
RGD
PMID:1670041
RGD:5688335
NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460
G
Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
RGD
PMID:20939108
RGD:14700885
NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:205,267,505...205,293,495
G
F2
coagulation factor II, thrombin
disease_progression
ISO
RGD
PMID:21805422
RGD:5147782
NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:98,051,960...98,065,246
G
Gpc3
glypican 3
ISO
protein:increased expression:blood serum (human)
RGD
PMID:28801286
RGD:243065135
NCBI chr X:136,789,770...137,157,598
Ensembl chr X:136,789,770...137,157,639
G
Il10
interleukin 10
ISO
DNA:SNPs:promoter:-1082A>G (rs1800896), -819T>C (rs1800871), -592A>C (rs1800872) (human)
RGD
PMID:30109600
RGD:14975142
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Il2rb
interleukin 2 receptor subunit beta
ISO
protein:decreased expression:peripheral blood lymphocyte
RGD
PMID:1325198
RGD:42724465
NCBI chr 7:111,913,828...111,928,537
Ensembl chr 7:111,913,828...111,928,537
G
Smad4
SMAD family member 4
ISO
associated with hepatocellular carcinoma; protein:altered expression:liver
RGD
PMID:22799322
RGD:21066341
NCBI chr18:69,518,988...69,549,684
Ensembl chr18:69,518,988...69,549,684
G
Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:missense mutation:cds:p.R194W, p.R280H (human)
RGD
PMID:19194663
RGD:15014792
NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:89,268,644...89,296,613
G
Card9
caspase recruitment domain family, member 9
susceptibility
ISO
ClinVar Annotator: match by term: CARD9 IMMUNODEFICIENCY | ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
OMIM ClinVar
PMID:9536098 PMID:9835960 PMID:16199547 PMID:17576681 PMID:19864672 PMID:21983784 PMID:22730530 PMID:23335372 PMID:24033266 PMID:24068945 PMID:24131138 PMID:24231284 PMID:24704721 PMID:25702837 PMID:25731871 PMID:25741868 PMID:25933095 PMID:26038974 PMID:26521038 PMID:26679537 PMID:26961233 PMID:27490946 PMID:27777981 PMID:28252032 PMID:28492532 PMID:28842327 PMID:29080677 PMID:29307770 PMID:29890237 PMID:30136218 PMID:30429846 PMID:30537277 PMID:30809743 PMID:30837984 PMID:31102464 PMID:31414217 PMID:31469433 PMID:32888943 PMID:33414972 PMID:33558980 PMID:33872781 PMID:34234782 PMID:35628702 PMID:35727133 PMID:35753512 More...
NCBI chr 3:29,569,907...29,578,402
Ensembl chr 3:29,569,959...29,578,402
G
Entr1
endosome associated trafficking regulator 1
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 3:29,599,059...29,605,780
Ensembl chr 3:29,599,059...29,605,898
G
Inpp5e
inositol polyphosphate-5-phosphatase E
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 3:29,614,868...29,627,542
Ensembl chr 3:29,614,868...29,627,542
G
Pmpca
peptidase, mitochondrial processing subunit alpha
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 3:29,605,823...29,614,936
Ensembl chr 3:29,604,232...29,614,935
G
Snapc4
small nuclear RNA activating complex, polypeptide 4
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 3:29,580,157...29,598,440
Ensembl chr 3:29,580,159...29,597,610
G
Cd28
Cd28 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency 123 with HPV-related verrucosis
OMIM ClinVar
NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:69,545,326...69,689,192
G
Rhoh
ras homolog family member H
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 | ClinVar Annotator: match by term: RHOH-related condition
OMIM ClinVar
PMID:22850876 PMID:25741868 PMID:28492532 PMID:38775840
NCBI chr14:42,694,860...42,725,690
Ensembl chr14:42,693,413...42,749,967
G
Il7
interleukin 7
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 | ClinVar Annotator: match by term: IL7-related condition
OMIM ClinVar
PMID:25741868 PMID:25981006 PMID:28492532 PMID:31900472 PMID:39352394
NCBI chr 2:96,142,523...96,186,282
Ensembl chr 2:96,142,092...96,187,389
G
Adss1
adenylosuccinate synthase 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,500,549...137,523,087
Ensembl chr 6:137,501,001...137,523,086
G
Ahnak2
AHNAK nucleoprotein 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,648,867...137,697,580
Ensembl chr 6:137,652,537...137,675,546
G
Akt1
AKT serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:137,535,390...137,552,610
G
Amn
amnion associated transmembrane protein
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,132,567...136,140,008
Ensembl chr 6:136,132,567...136,140,008
G
Ankrd9
ankyrin repeat domain 9
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:135,827,355...135,830,002
Ensembl chr 6:135,775,869...135,837,893
G
Aspg
asparaginase
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,997,832...137,017,417
Ensembl chr 6:136,998,023...137,017,417
G
Atp5mj
ATP synthase membrane subunit j
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,839,890...136,845,640
Ensembl chr 1:177,906,475...177,907,045 Ensembl chr 1:177,906,475...177,907,045
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 1:177,906,666...177,907,056
Ensembl chr 1:142,838,109...142,838,516
G
Bag5
BAG cochaperone 5
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,589,623...136,593,278
Ensembl chr 6:136,584,741...136,598,492
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 6:137,854,055...137,902,629
Ensembl chr 6:137,855,449...137,902,386
G
Btbd6
BTB domain containing 6
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,879,202...137,881,662
Ensembl chr 6:137,879,162...137,881,652
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 6:137,378,336...137,393,892
G
Cdc42bpb
CDC42 binding protein kinase beta
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,154,905...136,241,259
Ensembl chr 6:136,154,905...136,237,570
G
Cdca4
cell division cycle associated 4
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,713,390...137,722,652
Ensembl chr 6:137,713,051...137,722,580
G
Cep170b
centrosomal protein 170B
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,602,707...137,627,750
Ensembl chr 6:137,602,707...137,627,750
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 6:135,698,477...135,720,798
Ensembl chr 6:135,706,793...135,720,689
G
Ckb
creatine kinase B
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,550,583...136,553,464
Ensembl chr 6:136,549,844...136,553,478
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 6:137,703,947...137,710,743
Ensembl chr 6:137,703,619...137,710,742
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 6:136,593,399...136,618,237
Ensembl chr 6:136,592,787...136,619,602
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 6:135,436,375...135,502,117
Ensembl chr 6:135,430,750...135,502,116
G
Eif5
eukaryotic translation initiation factor 5
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,410,333...136,418,827
Ensembl chr 6:136,407,440...136,418,821
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 6:136,273,857...136,287,877
Ensembl chr 6:136,273,854...136,287,881
G
Gpr132
G protein-coupled receptor 132
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,745,142...137,763,037
Ensembl chr 6:137,745,241...137,763,157
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 6:135,523,604...135,529,687
Ensembl chr 6:135,523,616...135,528,499
G
Inf2
inverted formin 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,470,259...137,497,039
Ensembl chr 6:137,470,286...137,497,039
G
Jag2
jagged canonical Notch ligand 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,804,133...137,826,738
Ensembl chr 6:137,804,133...137,826,738
G
Kif26a
kinesin family member 26A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,035,986...137,072,027
Ensembl chr 6:137,033,789...137,072,022
G
Klc1
kinesin light chain 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,644,592...136,690,399
Ensembl chr 6:136,644,307...136,689,760
G
Mark3
microtubule affinity regulating kinase 3
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,447,327...136,537,409
Ensembl chr 6:136,448,531...136,537,404
G
Mok
MOK protein kinase
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:135,645,018...135,675,894
Ensembl chr 6:135,645,018...135,676,174
G
Nudt14
nudix hydrolase 14
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,831,382...137,838,370
Ensembl chr 6:137,831,373...137,838,370
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 6:137,918,040...137,977,767
Ensembl chr 6:137,918,051...137,977,767
G
Pld4
phospholipase D family, member 4
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,639,948...137,647,462
Ensembl chr 6:137,639,945...137,649,024
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 6:136,711,834...136,785,068
Ensembl chr 6:136,711,834...136,785,113
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 6:135,282,947...135,419,591
Ensembl chr 6:135,324,067...135,419,597
G
Rcor1
REST corepressor 1
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:135,890,851...135,967,367
Ensembl chr 6:135,890,851...135,967,367
G
Rd3l
RD3 like
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,863,424...136,865,328
Ensembl chr 6:136,863,335...136,865,313
G
Siva1
SIVA1, apoptosis-inducing factor
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,526,416...137,530,790
Ensembl chr 6:137,526,031...137,530,790
G
Tdrd9
tudor domain containing 9
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,850,797...136,966,225
Ensembl chr 6:136,850,812...136,966,225
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 6:135,720,765...135,823,187
Ensembl chr 6:135,720,656...135,823,187
G
Tmem179
transmembrane protein 179
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:137,390,422...137,401,438
Ensembl chr 6:137,390,423...137,401,438
G
Tnfaip2
TNF alpha induced protein 2
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,297,388...136,311,106
Ensembl chr 6:136,298,082...136,311,106
G
Traf3
Tnf receptor-associated factor 3
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:20832341 PMID:25741868 PMID:28492532 PMID:31681265 PMID:35960817 PMID:36004314 PMID:39579173 More...
NCBI chr 6:136,025,097...136,128,363
Ensembl chr 6:136,027,157...136,128,363
G
Trmt61a
tRNA methyltransferase 61A
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:136,558,417...136,564,411
Ensembl chr 6:136,558,391...136,564,410
G
Wdr20
WD repeat domain 20
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:135,572,502...135,642,688
Ensembl chr 6:135,572,893...135,642,688
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 6:136,684,558...136,694,822
Ensembl chr 6:136,684,558...136,694,822
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 6:137,559,622...137,561,750
Ensembl chr 6:137,555,304...137,570,261
G
Zfp839
zinc finger protein 839
ISO
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:135,686,132...135,711,856
Ensembl chr 6:135,687,100...135,704,299
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 6:136,695,132...136,715,601
Ensembl chr 6:136,694,908...136,715,601
G
Ankar
ankyrin and armadillo repeat containing
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:55,633,681...55,709,721
Ensembl chr 9:55,633,566...55,707,369
G
Asnsd1
asparagine synthetase domain containing 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:55,618,799...55,631,064
Ensembl chr 9:55,618,799...55,631,064
G
C9h2orf88
similar to human chromosome 2 open reading frame 88
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:56,037,234...56,076,793
Ensembl chr 9:56,031,114...56,131,839
G
Col3a1
collagen type III alpha 1 chain
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:54,866,646...54,902,578
Ensembl chr 9:54,866,632...54,903,232
G
Col5a2
collagen type V alpha 2 chain
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:54,940,768...55,090,151
Ensembl chr 9:54,940,764...55,090,150
G
Gls
glutaminase
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:56,836,584...56,908,861
Ensembl chr 9:56,836,584...56,908,861
G
Hibch
3-hydroxyisobutyryl-CoA hydrolase
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:56,082,082...56,161,796
Ensembl chr 9:56,082,091...56,161,886
G
Inpp1
inositol polyphosphate-1-phosphatase
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:56,161,816...56,209,774
Ensembl chr 9:56,161,852...56,234,569
G
Mfsd6
major facilitator superfamily domain containing 6
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:56,265,152...56,350,449
Ensembl chr 9:56,265,237...56,350,446
G
Mstn
myostatin
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:55,944,513...55,950,913
Ensembl chr 9:55,944,513...55,950,913
G
Nab1
Ngfi-A binding protein 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:56,545,547...56,585,045
Ensembl chr 9:56,545,729...56,614,210
G
Nemp2
nuclear envelope integral membrane protein 2
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:56,353,233...56,372,586
Ensembl chr 9:56,353,233...56,372,493
G
Ormdl1
ORMDL sphingolipid biosynthesis regulator 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:55,735,081...55,745,287
Ensembl chr 9:55,735,097...55,745,340
G
Osgepl1
O-sialoglycoprotein endopeptidase-like 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:55,707,389...55,725,325
Ensembl chr 9:55,707,392...55,721,346
G
Pms1
PMS1 homolog 1, mismatch repair system component
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:55,721,393...55,832,225
Ensembl chr 9:55,745,374...55,832,221
G
Slc40a1
solute carrier family 40 member 1
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:55,525,457...55,633,463
Ensembl chr 9:55,525,532...55,543,460
G
Stat1
signal transducer and activator of transcription 1
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Immunodeficiency 31B | ClinVar Annotator: match by term: Mycobacterial and viral infections, susceptibility to, autosomal recessive
OMIM ClinVar
PMID:9536098 PMID:12590259 PMID:16199547 PMID:16585605 PMID:17576681 PMID:20841510 PMID:21714643 PMID:21727188 PMID:22195034 PMID:22208278 PMID:22651901 PMID:22730530 PMID:22847544 PMID:23245795 PMID:23403048 PMID:23534974 PMID:23541320 PMID:23585529 PMID:23709754 PMID:24033266 PMID:24188975 PMID:24239102 PMID:24343863 PMID:25042743 PMID:25326637 PMID:25367169 PMID:25662309 PMID:25741868 PMID:26242301 PMID:26255980 PMID:26467763 PMID:26479788 PMID:26494717 PMID:26513235 PMID:26604104 PMID:26732859 PMID:26743090 PMID:26938784 PMID:26948078 PMID:27063510 PMID:27114460 PMID:27117246 PMID:27146670 PMID:27379765 PMID:27577878 PMID:27808400 PMID:28011069 PMID:28161409 PMID:28258222 PMID:28367431 PMID:28427548 PMID:28492532 PMID:28597685 PMID:28601685 PMID:28622416 PMID:28753426 PMID:28815025 PMID:28859974 PMID:29111217 PMID:29317535 PMID:30030262 PMID:30131873 PMID:30442829 PMID:31114772 PMID:31354696 PMID:31362757 PMID:31367980 PMID:31448411 PMID:31677808 PMID:31686315 PMID:32135276 PMID:32506361 PMID:32582194 PMID:32603902 PMID:32888943 PMID:33096415 PMID:33225392 PMID:33679782 PMID:34093558 PMID:34114647 PMID:34134972 PMID:34718945 PMID:35126392 PMID:35470942 PMID:35960392 PMID:35976469 PMID:36336768 PMID:36630059 More...
NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:56,911,523...57,077,346
G
Stat4
signal transducer and activator of transcription 4
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:22651901 PMID:28492532
NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346
G
Wdr75
WD repeat domain 75
ISO
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 9:55,395,232...55,425,412
Ensembl chr 9:55,395,222...55,425,412
G
Il21r
interleukin 21 receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency 31C, autosomal dominant
ClinVar
PMID:25741868
NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:189,598,558...189,626,342
G
Stat1
signal transducer and activator of transcription 1
ISO
ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | ClinVar Annotator: match by term: Immunodeficiency 31C, autosomal dominant
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21714643 PMID:21727188 PMID:22195034 PMID:22730530 PMID:22847544 PMID:23245795 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24188975 PMID:24239102 PMID:24343863 PMID:25042743 PMID:25288569 PMID:25326637 PMID:25367169 PMID:25741868 PMID:26242301 PMID:26255980 PMID:26479788 PMID:26494717 PMID:26513235 PMID:26604104 PMID:26743090 PMID:27114460 PMID:27379765 PMID:27577878 PMID:28011069 PMID:28161409 PMID:28258222 PMID:28427548 PMID:28492532 PMID:28597685 PMID:28622416 PMID:28753426 PMID:28815025 PMID:30317461 PMID:30442829 PMID:31362757 PMID:31448411 PMID:31677808 PMID:32582194 PMID:32888943 PMID:33679782 More...
NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:56,911,523...57,077,346
G
Arvcf
ARVCF, delta catenin family member
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:96,092,451...96,150,144
Ensembl chr11:96,092,451...96,150,163
G
Atp6v1e1
ATPase H+ transporting V1 subunit E1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:155,694,534...155,716,660
Ensembl chr 4:155,694,534...155,716,678
G
Bcl2l13
Bcl2-like 13
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:155,728,284...155,785,058
Ensembl chr 4:155,728,284...155,781,158
G
Bid
BH3 interacting domain death agonist
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:155,785,366...155,808,775
Ensembl chr 4:155,785,377...155,808,275
G
C11h22orf39
similar to human chromosome 22 open reading frame 39
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:95,660,135...95,665,750
Ensembl chr11:95,663,881...95,664,588
G
Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:95,689,702...95,714,980
Ensembl chr11:95,689,919...95,714,981
G
Cecr2
CECR2, histone acetyl-lysine reader
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:155,562,576...155,670,253
Ensembl chr 4:155,562,727...155,666,741
G
Cldn5
claudin 5
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:95,717,172...95,718,598
Ensembl chr11:95,717,176...95,719,322
G
Comt
catechol-O-methyltransferase
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:96,072,371...96,091,956
Ensembl chr11:96,072,489...96,092,533
G
Dgcr2
DiGeorge syndrome critical region gene 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:96,598,247...96,648,791
Ensembl chr11:96,597,197...96,648,786
G
Dgcr6
DiGeorge syndrome critical region gene 6
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:96,432,024...96,442,766
Ensembl chr11:96,432,024...96,437,255
G
Ess2
ess-2 splicing factor homolog
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:96,580,185...96,596,673
Ensembl chr11:96,580,169...96,590,146
G
Gnb1l
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:95,933,994...96,011,933
Ensembl chr11:95,936,961...96,011,931
G
Gp1bb
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:95,882,561...95,883,738
G
Gsc2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:96,576,424...96,578,412
Ensembl chr11:96,575,600...96,578,412
G
Hdhd5
haloacid dehalogenase like hydrolase domain containing 5
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:155,372,781...155,425,496
Ensembl chr 4:155,390,916...155,425,601
G
Hira
histone cell cycle regulator
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:95,528,831...95,637,565
Ensembl chr11:95,528,831...95,638,549
G
Il17ra
interleukin 17 receptor A
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 | ClinVar Annotator: match by term: Immunodeficiency 51
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 PMID:24552284 PMID:24552285 PMID:25741868 PMID:26607704 PMID:26871944 PMID:27930337 PMID:28492532 More...
NCBI chr 4:155,339,742...155,362,382
Ensembl chr 4:155,339,400...155,362,382
G
Mical3
microtubule associated monooxygenase, calponin and LIM domain containing 3
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:155,824,941...156,025,003
Ensembl chr 4:155,824,946...156,005,238
G
Mrpl40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:95,637,751...95,643,587
Ensembl chr11:95,637,712...95,643,586
G
Pex26
peroxisomal biogenesis factor 26
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:156,085,967...156,099,096
Ensembl chr 4:156,086,960...156,099,093
G
Prodh
proline dehydrogenase
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:96,414,275...96,431,604
Ensembl chr11:96,414,224...96,433,418
G
Septin5
septin 5
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:95,877,946...95,883,738
Ensembl chr11:95,873,864...95,883,737
G
Slc25a1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:96,560,054...96,563,071
Ensembl chr11:96,560,041...96,565,052
G
Slc25a18
solute carrier family 25 member 18
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:155,672,939...155,693,549
Ensembl chr 4:155,673,169...155,693,548
G
Tango2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:96,150,292...96,196,883
Ensembl chr11:96,150,266...96,196,881
G
Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:95,913,610...95,923,392
Ensembl chr11:95,913,610...95,923,392
G
Tmem121b
transmembrane protein 121B
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:155,367,397...155,372,310
Ensembl chr 4:155,355,267...155,373,376
G
Tssk2
testis-specific serine kinase 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:96,590,864...96,592,219
G
Tuba8
tubulin, alpha 8
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:156,110,562...156,129,065
Ensembl chr 4:156,111,964...156,141,436
G
Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:96,024,321...96,072,475
Ensembl chr11:96,024,324...96,072,475
G
Ufd1
ubiquitin recognition factor in ER associated degradation 1
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:95,665,971...95,689,423
Ensembl chr11:95,665,972...95,689,434
G
Usp18
ubiquitin specific peptidase 18
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:156,143,770...156,171,292
Ensembl chr 4:156,143,815...156,171,292
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:26513235 PMID:28046022 PMID:28368532 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:31268141 PMID:32936395 PMID:33174085 PMID:34813006 More...
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
G
Klrk1
killer cell lectin like receptor K1
susceptibility
ISO
RGD
PMID:18266471
RGD:38676489
NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:164,767,946...164,778,382
G
Mapk8
mitogen-activated protein kinase 8
exacerbates
ISO
RGD
PMID:24673683
RGD:150340678
NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,645,198...8,728,427
G
Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12235215
NCBI chr 5:162,406,387...162,451,620
Ensembl chr 5:162,406,387...162,451,620
G
Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12235215
NCBI chr 5:82,266,436...82,292,858
Ensembl chr 5:82,266,436...82,292,858
G
Fas
Fas cell surface death receptor
ISO
protein:increased expression:monocyte, neutrophil, serum:
RGD
PMID:11185989
RGD:11049152
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104
G
Faslg
Fas ligand
ISO
protein:increased expression:lymphocyte, serum:
RGD
PMID:11185989
RGD:11049152
NCBI chr13:76,680,885...76,706,042
Ensembl chr13:76,688,243...76,695,503
G
Foxp3
forkhead box P3
disease_progression
ISO
RGD
PMID:23628056
RGD:38501103
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:17,580,380...17,595,894
G
Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
RGD
PMID:22537952
RGD:10450797
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569
G
Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
RGD
PMID:22537952
RGD:10450797
NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019
G
Il27
interleukin 27
ISO
protein:increased expression:blood serum (human)
RGD
PMID:33571934
RGD:126790542
NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:190,603,522...190,609,258
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism:cds:HLA-DRB1*0101 (human)
RGD
PMID:21482926
RGD:40818406
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165
G
Sod2
superoxide dismutase 2
ISO
RGD
PMID:7964476
RGD:11035288
NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168
G
Ccl2
C-C motif chemokine ligand 2
ISO
associated with Asthma;protein:decreased expression:alveolar system (mouse)
RGD
PMID:12707338
RGD:4145439
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
G
Cd274
CD274 molecule
ISO
RGD
PMID:24187568
RGD:41410793
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
G
Cd8a
CD8 subunit alpha
ISO
protein:altered expression:lung, T cell (mouse)
RGD
PMID:28355204
RGD:124715455
NCBI chr 4:104,924,116...104,928,353
Ensembl chr 4:104,900,833...104,928,358
G
Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
RGD
PMID:20081832
RGD:155641261
NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:169,490,876...169,496,498
G
Cftr
CF transmembrane conductance regulator
treatment
ISO
RGD
PMID:23749967
RGD:35673331
NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:47,526,735...47,694,643
G
Clk1
CDC-like kinase 1
ISO
RGD
PMID:34883209
RGD:155641258
NCBI chr 9:67,441,962...67,453,180
Ensembl chr 9:67,441,952...67,451,187
G
Cr2
complement C3d receptor 2
exacerbates
ISO
RGD
PMID:19388171
RGD:127338248
NCBI chr13:109,207,034...109,244,980
Ensembl chr13:109,213,867...109,244,552
G
Il33
interleukin 33
ISO
RGD
PMID:28401938
RGD:40400699
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:237,115,572...237,150,901
G
Mavs
mitochondrial antiviral signaling protein
treatment
ISO
RGD
PMID:31461653
RGD:40902992
NCBI chr 3:138,904,673...138,919,129
Ensembl chr 3:138,904,771...138,919,126
G
Mir21
microRNA 21
ameliorates
ISO
associated with asthma;
RGD
PMID:27448447
RGD:41404696
NCBI chr10:71,902,600...71,902,691
G
Nrg1
neuregulin 1
ISO
neurotropic influenza A in Tap1-/- strain;mRNA (type III):decreased expression:prefrontal cortex (mouse)
RGD
PMID:19362585
RGD:39456087
NCBI chr16:65,954,084...67,007,484
Ensembl chr16:65,953,865...66,999,849
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
mRNA:increased expression:lung
RGD
PMID:31782850
RGD:39131288
NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577
G
Rnasel
ribonuclease L
ISO
RGD
PMID:23913960
RGD:40902622
NCBI chr13:68,446,641...68,460,804
Ensembl chr13:68,446,882...68,459,557
G
Son
SON DNA and RNA binding protein
ISO
RGD
PMID:34883209
RGD:155641258
NCBI chr11:44,336,818...44,409,127
Ensembl chr11:44,377,976...44,409,127
G
Atm
ATM serine/threonine kinase
exacerbates
ISO
RGD
PMID:31509427
RGD:126779564
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629
G
Btk
Bruton tyrosine kinase
ameliorates
ISO
Associated with Acute Lung Injury
RGD
PMID:29516781
RGD:124713566
NCBI chr X:102,016,070...102,055,448
Ensembl chr X:102,016,074...102,055,143
G
Duox1
dual oxidase 1
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:24888898
RGD:40903071
NCBI chr 3:129,714,125...129,749,186
Ensembl chr 3:129,714,149...129,749,187
G
Duox2
dual oxidase 2
severity
ISO
RGD
PMID:28936773 PMID:25751630 PMID:29556357
RGD:40924644 , RGD:40925925 , RGD:40925921
NCBI chr 3:129,680,543...129,698,886
Ensembl chr 3:129,680,546...129,699,203
G
Ifih1
interferon induced with helicase C domain 1
ISO
mRNA:increased expression:nasal cavity mucosa (mouse)
RGD
PMID:25751630
RGD:40925925
NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968
G
Il21
interleukin 21
ISO
RGD
PMID:25251568
RGD:127285548
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
G
Il27
interleukin 27
ISO
protein:increased expression:blood serum (human)
RGD
PMID:22343630
RGD:126790513
NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:190,603,522...190,609,258
G
Map3k8
mitogen-activated protein kinase kinase kinase 8
exacerbates
ISO
RGD
PMID:26241898
RGD:11055126
NCBI chr17:58,078,175...58,098,455
Ensembl chr17:58,078,320...58,098,452
G
Mapk8
mitogen-activated protein kinase 8
ameliorates
ISO
RGD
PMID:22514650
RGD:150340681
NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,645,198...8,728,427
G
Marco
macrophage receptor with collagenous structure
ameliorates
ISO
RGD
PMID:21562316
RGD:41412197
NCBI chr13:34,169,011...34,210,340
Ensembl chr13:34,169,011...34,201,255
G
Mavs
mitochondrial antiviral signaling protein
disease_progression
ISO
RGD
PMID:27438481
RGD:40903047
NCBI chr 3:138,904,673...138,919,129
Ensembl chr 3:138,904,771...138,919,126
G
Mir146a
microRNA 146a
exacerbates ameliorates
ISO
RGD
PMID:31638222 PMID:30611999
RGD:126925152 , RGD:126925153
NCBI chr10:28,349,996...28,350,090
G
Mx1
MX dynamin like GTPase 1
ameliorates
ISO
fused with PTD 9-arginine sequence human gene in a mouse model
RGD
PMID:30696001 PMID:31653718 PMID:1371172 PMID:30945621
RGD:126777671 , RGD:126777680 , RGD:126777676 , RGD:126777673
NCBI chr11:50,269,056...50,294,699
Ensembl chr11:50,269,057...50,292,904
G
Plac8
placenta associated 8
ISO
RGD
PMID:32639988
RGD:40925929
NCBI chr14:9,356,950...9,378,586
Ensembl chr14:9,356,972...9,378,572
G
Ppia
peptidylprolyl isomerase A
ameliorates
ISO
human gene in a mouse model
RGD
PMID:27354005
RGD:150429624
NCBI chr14:85,491,223...85,496,884
Ensembl chr14:85,492,484...85,497,115
G
Rig1
RNA sensor RIG-1
ISO
mRNA:increased expression:nasal cavity mucosa (mouse)
RGD
PMID:25751630
RGD:40925925
NCBI chr 5:60,117,398...60,165,995
Ensembl chr 5:60,117,398...60,165,995
G
Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates susceptibility
ISO
RGD
PMID:27321907 PMID:32200799 PMID:28410401
RGD:127229911 , RGD:127229922 , RGD:127229918
NCBI chr15:33,253,071...33,262,025
Ensembl chr15:33,253,071...33,262,025
G
Stat2
signal transducer and activator of transcription 2
exacerbates
ISO
RGD
PMID:30337919
RGD:41789626
NCBI chr 7:1,287,025...1,302,858
Ensembl chr 7:1,287,024...1,303,459
G
Ifngr1
interferon gamma receptor 1
ISO
ClinVar Annotator: match by term: Interferon gamma receptor 1 deficiency | ClinVar Annotator: match by term: Interferon gamma receptor deficiency
ClinVar
PMID:8960473 PMID:9806040 PMID:10192386 PMID:11583830 PMID:12516030 PMID:16199547 PMID:18171304 PMID:18593809 PMID:20015550 PMID:25741868 PMID:28492532 PMID:28902581 More...
NCBI chr 1:16,152,811...16,171,439
Ensembl chr 1:16,152,879...16,171,437
G
Ifngr2
interferon gamma receptor 2
ISO
ClinVar Annotator: match by term: Interferon gamma receptor deficiency
ClinVar
PMID:16690980 PMID:16885196 PMID:25741868 PMID:28492532
NCBI chr11:44,265,703...44,283,975
Ensembl chr11:44,265,703...44,283,975
G
Tmem50b
transmembrane protein 50B
ISO
ClinVar Annotator: match by term: Interferon gamma receptor deficiency
ClinVar
PMID:28492532
NCBI chr11:44,290,805...44,323,650
Ensembl chr11:44,290,807...44,323,607
G
Ager
advanced glycosylation end product-specific receptor
ISO
RGD
PMID:21423669
RGD:5508765
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,151,965...4,155,685
G
Ccl2
C-C motif chemokine ligand 2
severity
ISO
RGD
PMID:11160230
RGD:11528533
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
G
Ccl20
C-C motif chemokine ligand 20
ISO
protein:increased expression:lung
RGD
PMID:20926800
RGD:7483599
NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:91,836,946...91,839,736
G
Ccr6
C-C motif chemokine receptor 6
disease_progression
ISO
RGD
PMID:17379855
RGD:7483617
NCBI chr 1:55,022,037...55,055,857
Ensembl chr 1:55,021,833...55,046,059
G
Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:17298426
RGD:5135501
NCBI chr X:70,884,293...70,886,944
Ensembl chr X:70,883,958...70,886,871
G
Cybb
cytochrome b-245 beta chain
ISO
RGD
PMID:24054721
RGD:10450528
NCBI chr X:16,030,596...16,065,065
Ensembl chr X:16,030,596...16,065,065
G
Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment
ISO
DNA:polymorphisms:cds:
RGD
PMID:26861072
RGD:124713410
NCBI chr 1:247,879,058...247,916,804
Ensembl chr 1:247,879,078...247,916,798
G
Elane
elastase, neutrophil expressed
ISO
RGD
PMID:24054721
RGD:10450528
NCBI chr 7:10,467,877...10,469,725
Ensembl chr 7:10,467,877...10,469,725
G
Il17a
interleukin 17A
severity
ISO
RGD
PMID:21807912
RGD:8698654
NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:30,640,844...30,644,331
G
Mbl2
mannose binding lectin 2
ISO
DNA:SNP:exon:rs5030737(human)
RGD
PMID:17311505
RGD:8693758
NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546
G
Ptx3
pentraxin 3
severity
ISO
DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527 protein:increased expression:bronchoalveolar lavage fluid (human)
RGD
PMID:30275011 PMID:28487045
RGD:38501097 , RGD:38508892
NCBI chr 2:152,797,563...152,803,372
Ensembl chr 2:152,781,955...152,803,372
G
S100b
S100 calcium binding protein B
ISO
RGD
PMID:21423669
RGD:5508765
NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,348...12,381,081
G
Tlr2
toll-like receptor 2
ISO
RGD
PMID:16113258
RGD:8553022
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
G
Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:polymorphism:exon:p.D299G(human)
RGD
PMID:18275280
RGD:5130863
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
G
Itgam
integrin subunit alpha M
ISO
protein: increased expression: kidney
RGD
PMID:21063074
RGD:7207265
NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:192,089,542...192,139,943
G
Ptx3
pentraxin 3
severity
ISO
associated with hematologic cancer;DNA:SNP:intron:rs1840680
RGD
PMID:30275011
RGD:38501097
NCBI chr 2:152,797,563...152,803,372
Ensembl chr 2:152,781,955...152,803,372
G
Ccl2
C-C motif chemokine ligand 2
treatment
IDA
RGD
PMID:12917249
RGD:11528529
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
G
Cd209d
CD209d molecule
susceptibility
ISO
DNA:SNPs:3'utr,intron:multiple
RGD
PMID:22384201
RGD:39938996
NCBI chr12:6,689,002...6,695,452
Ensembl chr12:6,689,002...6,698,976
G
Fgf2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:122,164,454...122,224,493
G
Il1a
interleukin 1 alpha
ISO
DNA:polymorphism, haplotype:promoter:-889C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013
G
Il1b
interleukin 1 beta
ISO
DNA:polymorphism, haplotype: :-511C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
G
Itih4
inter-alpha-trypsin inhibitor heavy chain 4
IEP
protein:increased expression:respiratory system fluid/secretion, serum
RGD
PMID:24360996
RGD:40903005
NCBI chr16:6,086,985...6,102,162
Ensembl chr16:6,086,973...6,102,160
G
Mbl2
mannose binding lectin 2
treatment
ISO
RGD
PMID:17335555
RGD:8693746
NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546
G
Ptx3
pentraxin 3
susceptibility no_association
ISO
DNA:SNP:intron:rs1840680 (human) protein:increased expression:bronchoalveolar lavage fluid, plasma (human) protein:increased expression:plasma DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527
RGD
PMID:29020397 PMID:29964232 PMID:29020397 PMID:29020397
RGD:38501098 , RGD:38508894 , RGD:38501098 , RGD:38501098
NCBI chr 2:152,797,563...152,803,372
Ensembl chr 2:152,781,955...152,803,372
G
Vegfa
vascular endothelial growth factor A
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194
G
Camk2n1
calcium/calmodulin-dependent protein kinase II inhibitor 1
ISO
RGD
PMID:17010311
RGD:18337278
NCBI chr 5:155,958,116...155,959,897
Ensembl chr 5:155,957,878...155,961,058
G
Ripk3
receptor-interacting serine-threonine kinase 3
ameliorates
ISO
RGD
PMID:32265853
RGD:127229907
NCBI chr15:33,253,071...33,262,025
Ensembl chr15:33,253,071...33,262,025
G
Bptf
bromodomain PHD finger transcription factor
susceptibility
ISO
ClinVar Annotator: match by term: Kaposi sarcoma, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:28492532 PMID:38380509
NCBI chr10:92,480,007...92,582,485
Ensembl chr10:92,480,007...92,582,413
G
Fgfr2
fibroblast growth factor receptor 2
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:18804962
RGD:155663668
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
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 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
G
Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
treatment
ISO
RGD
PMID:21665152
RGD:38599159
NCBI chr 6:54,494,247...54,529,563
Ensembl chr 6:54,478,603...54,529,509
G
Tp53
tumor protein p53
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
G
Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:14517397
RGD:8655667
NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:122,164,454...122,224,493
G
Gna14
G protein subunit alpha 14
ISO
ClinVar Annotator: match by term: Kaposiform hemangioendothelioma
ClinVar
PMID:25741868 PMID:27476652
NCBI chr 1:223,141,802...223,324,210
Ensembl chr 1:223,141,802...223,324,210
G
Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
mRNA,protein:increased expression:blood cells, serum:
RGD
PMID:26893848
RGD:124713562
NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:66,991,970...66,998,012
G
Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
ISO
mRNA,protein:increased expression:blood cells, serum:
RGD
PMID:26893848
RGD:124713562
NCBI chr 1:247,879,058...247,916,804
Ensembl chr 1:247,879,078...247,916,798
G
Gpx1
glutathione peroxidase 1
ISO
DNA:polymorphism: :p.P198L (human)
RGD
PMID:21055077
RGD:11352821
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:117,905,280...117,906,581
G
Foxp3
forkhead box P3
IEP
mRNA:increased expression:lung
RGD
PMID:17878294
RGD:2325989
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:17,580,380...17,595,894
G
Il2ra
interleukin 2 receptor subunit alpha
treatment
IMP
RGD
PMID:17878294
RGD:2325989
NCBI chr17:71,759,802...71,808,475
Ensembl chr17:71,759,802...71,808,507
G
Dag1
dystroglycan 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17287727
NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:117,769,517...117,782,199
G
Irak1
interleukin-1 receptor-associated kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26937033
NCBI chr X:156,919,927...156,929,825
Ensembl chr X:156,920,081...156,929,825
G
Mir150
microRNA 150
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26937033
NCBI chr 1:104,741,487...104,741,571
Ensembl chr 1:104,741,487...104,741,571
G
Mir190b
microRNA 190b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26937033
NCBI chr 2:177,812,461...177,812,538
Ensembl chr 2:177,812,461...177,812,538
G
Nlrp3
NLR family, pyrin domain containing 3
ISO
ClinVar Annotator: match by term: Long COVID-19
ClinVar
PMID:33748830
NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,828,014...44,853,394
G
RT1-M3-1
RT1 class Ib, locus M3, gene 1
ISO
ClinVar Annotator: match by term: Post-COVID-19 disorder
ClinVar
NCBI chr20:1,329,227...1,333,394
Ensembl chr20:1,329,225...1,333,366
G
Fcgr3a
Fc gamma receptor 3A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26773105
NCBI chr13:85,782,636...85,792,656
Ensembl chr13:85,782,490...85,792,651
G
Ina
internexin neuronal intermediate filament protein, alpha
severity
ISO
RGD
PMID:20559547
RGD:40886275
NCBI chr 1:255,838,129...255,849,680
Ensembl chr 1:255,838,129...255,849,680
G
Itgam
integrin subunit alpha M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26773105
NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:192,089,542...192,139,943
G
Selp
selectin P
ISO
RGD
PMID:20179168
RGD:6478687
NCBI chr13:79,009,379...79,044,994
Ensembl chr13:79,009,475...79,044,987
G
Ccl20
C-C motif chemokine ligand 20
ISO
protein:increased expression:synovial fluid
RGD
PMID:23371320
RGD:7488895
NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:91,836,946...91,839,736
G
Cxcr2
C-X-C motif chemokine receptor 2
severity
ISO
RGD
PMID:12847259
RGD:7257681
NCBI chr 9:83,178,645...83,185,017
Ensembl chr 9:83,183,808...83,188,602
G
Mir146a
microRNA 146a
exacerbates
ISO
RGD
PMID:24967703
RGD:126925141
NCBI chr10:28,349,996...28,350,090
G
Nod2
nucleotide-binding oligomerization domain containing 2
ISO
RGD
PMID:21387014
RGD:5508754
NCBI chr19:34,555,832...34,596,281
Ensembl chr19:34,555,832...34,722,846
G
Plaur
plasminogen activator, urokinase receptor
ISO
mRNA:increased expression:skin
RGD
PMID:19461880 PMID:19461880
RGD:6483813 , RGD:6483813
NCBI chr 1:89,181,363...89,196,308
Ensembl chr 1:89,178,453...89,198,130
G
Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:serum (human)
RGD
PMID:16358960
RGD:11528571
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
G
Cd40
CD40 molecule
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:140,164,302...140,176,475
G
Il1b
interleukin 1 beta
IDA
RGD
PMID:23134838
RGD:7193053
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
G
Cd274
CD274 molecule
ISO
RGD
PMID:23230000
RGD:41410802
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
G
Clec12a
C-type lectin domain family 12, member A
disease_progression
ISO
RGD
PMID:31451663
RGD:41412202
NCBI chr 4:164,484,162...164,502,793
Ensembl chr 4:164,484,162...164,510,233
G
Ifnar1
interferon alpha and beta receptor subunit 1
disease_progression
ISO
DNA:mutation: :
RGD
PMID:28878077 PMID:24760883
RGD:124715467 , RGD:124715479
NCBI chr11:44,211,769...44,238,206
Ensembl chr11:44,211,845...44,238,205
G
Ifngr1
interferon gamma receptor 1
ameliorates
ISO
RGD
PMID:22496215
RGD:124715469
NCBI chr 1:16,152,811...16,171,439
Ensembl chr 1:16,152,879...16,171,437
G
Il1rl1
interleukin 1 receptor-like 1
severity
ISO
RGD
PMID:25829541
RGD:40400708
NCBI chr 9:50,157,326...50,222,888
Ensembl chr 9:50,204,551...50,222,891
G
Il21r
interleukin 21 receptor
ISO
RGD
PMID:19478140
RGD:6892934
NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:189,598,558...189,626,342
G
Irf7
interferon regulatory factor 7
disease_progression
ISO
RGD
PMID:24760883 PMID:24760883
RGD:124715479 , RGD:124715479
NCBI chr 1:205,796,956...205,800,543
Ensembl chr 1:205,796,959...205,800,023
G
Irf9
interferon regulatory factor 9
disease_progression ameliorates
ISO
DNA:mutation: :
RGD
PMID:28878077 PMID:24760883 PMID:22496215
RGD:124715467 , RGD:124715479 , RGD:124715469
NCBI chr15:33,065,422...33,071,881
Ensembl chr15:33,065,659...33,071,879
G
Ncr1
natural cytotoxicity triggering receptor 1
ISO
RGD
PMID:30995287
RGD:40818298
NCBI chr 1:78,657,409...78,665,255
Ensembl chr 1:78,659,262...78,703,273
G
Nfkb1
nuclear factor kappa B subunit 1
severity
ISO
RGD
PMID:20565293
RGD:40902858
NCBI chr 2:226,689,745...226,805,897
Ensembl chr 2:226,689,745...226,783,088
G
Nfkb2
nuclear factor kappa B subunit 2
disease_progression
ISO
RGD
PMID:20565293
RGD:40902858
NCBI chr 1:255,106,010...255,114,649
Ensembl chr 1:255,107,374...255,114,637
G
Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:30726291 PMID:23230000
RGD:40818232 , RGD:41410802
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270
G
Stat1
signal transducer and activator of transcription 1
exacerbates
ISO
RGD
PMID:22496215
RGD:124715469
NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:56,911,523...57,077,346
G
Stat2
signal transducer and activator of transcription 2
ISO
RGD
PMID:32094187 PMID:24760883
RGD:42722006 , RGD:124715479
NCBI chr 7:1,287,025...1,302,858
Ensembl chr 7:1,287,024...1,303,459
G
Was
WASP actin nucleation promoting factor
ISO
RGD
PMID:23141740
RGD:38676258
NCBI chr X:17,077,057...17,085,802
Ensembl chr X:17,073,314...17,085,802
G
B2m
beta-2 microglobulin
ISO
protein:increased expression:plasma
RGD
PMID:1402029
RGD:6482707
NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:129,549,318...129,555,356
G
Cd46
CD46 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8402913
NCBI chr13:109,104,122...109,134,903
G
Muc1
mucin 1, cell surface associated
severity
ISO
protein:increased expression:serum
RGD
PMID:11802251
RGD:5131281
NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:176,933,047...176,938,491
G
Aif1
allograft inflammatory factor 1
IEP
protein:increased expression:brain (rat)
RGD
PMID:16150122
RGD:2313041
NCBI chr20:3,651,435...3,657,341
Ensembl chr20:3,652,243...3,657,339
G
Cnp
2',3'-cyclic nucleotide 3' phosphodiesterase
ISO
mRNA, protein:increased expression:brain, cerebrospinal fluid
RGD
PMID:19592007
RGD:6483338
NCBI chr10:86,011,504...86,018,063
Ensembl chr10:86,011,495...86,018,063
G
Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1430592
NCBI chr16:75,943,061...76,022,037
Ensembl chr16:75,943,064...75,967,696
G
Cd68
Cd68 molecule
ISO
protein:increased expression:tumor (human)
RGD
PMID:22050913
RGD:40925916
NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,880,563...54,882,540
G
Fgfr3
fibroblast growth factor receptor 3
ISO
mRNA:decreased expression:skin (human)
RGD
PMID:28359267
RGD:38500206
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209
G
Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25277525
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:95,483,105...95,488,028
G
Spa17
sperm autoantigenic protein 17
ISO
mRNA,protein:increased expression:nucleus
RGD
PMID:31218705
RGD:27226803
NCBI chr 8:45,496,175...45,507,262
Ensembl chr 8:45,496,175...45,507,262
G
Cd1d1
CD1d1 molecule
ISO
protein:decreased expression:alveolar macrophage, monocyte (mouse)
RGD
PMID:32463330
RGD:127345107
NCBI chr 2:174,721,522...174,725,029
Ensembl chr 2:174,721,522...174,725,029
G
Mavs
mitochondrial antiviral signaling protein
severity
ISO
RGD
PMID:25953917
RGD:40903044
NCBI chr 3:138,904,673...138,919,129
Ensembl chr 3:138,904,771...138,919,126
G
Arg1
arginase 1
ISO
mRNA:increased expression:lung
RGD
PMID:31838832
RGD:30309204
NCBI chr 1:22,295,093...22,307,720
Ensembl chr 1:22,295,322...22,307,713
G
C5ar1
complement C5a receptor 1
treatment
ISO
RGD
PMID:30634407
RGD:30309958
NCBI chr 1:86,077,309...86,088,001
G
Ccl2
C-C motif chemokine ligand 2
ISO
RGD
PMID:30626685
RGD:30309198
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
G
Ccl3
C-C motif chemokine ligand 3
ISO
RGD
PMID:30626685
RGD:30309198
NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,948,889...68,950,439
G
Cd14
CD14 molecule
ISO
mRNA:increased expression:lung
RGD
PMID:31838832
RGD:30309204
NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,608,883...28,611,292
G
Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:30911758
RGD:32716379
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:140,164,302...140,176,475
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:30626685
RGD:30309198
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:30626685
RGD:30309198
NCBI chr14:16,007,166...16,012,077
Ensembl chr14:16,007,204...16,014,299
G
Dpp4
dipeptidylpeptidase 4
treatment severity
ISS ISO
human gene in mouse model
MouseDO RGD
PMID:30256968 PMID:31838832 PMID:30626685
RGD:30309959 , RGD:30309204 , RGD:30309198
NCBI chr 3:67,370,794...67,452,422
Ensembl chr 3:67,370,804...67,452,422
G
Ifna4
interferon, alpha 4
disease_progression
ISO
RGD
PMID:30626685
RGD:30309198
NCBI chr 5:108,115,064...108,116,010
Ensembl chr 5:108,115,064...108,116,010
G
Ifnb1
interferon beta 1
disease_progression
ISO
RGD
PMID:30626685
RGD:30309198
NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:108,066,650...108,067,487
G
Ifng
interferon gamma
treatment
ISO
RGD
PMID:30634407
RGD:30309958
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
G
Il10
interleukin 10
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:32364527
RGD:27226699
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Il1a
interleukin 1 alpha
onset
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:32364527
RGD:27226699
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013
G
Il1b
interleukin 1 beta
onset treatment
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:32364527 PMID:30634407 PMID:30626685
RGD:27226699 , RGD:30309958 , RGD:30309198
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
G
Il23a
interleukin 23 subunit alpha
ISO
mRNA:decreased expression:lung (mouse)
RGD
PMID:32364527
RGD:27226699
NCBI chr 7:1,306,320...1,308,434
Ensembl chr 7:1,306,320...1,308,434
G
Il6
interleukin 6
ISO
protein:increased expression:serum:
RGD
PMID:30626685 PMID:30634407
RGD:30309198 , RGD:30309958
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
G
Il7
interleukin 7
onset
ISO
mRNA:altered expression:lung (mouse)
RGD
PMID:32364527
RGD:27226699
NCBI chr 2:96,142,523...96,186,282
Ensembl chr 2:96,142,092...96,187,389
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:serum:
RGD
PMID:30634407
RGD:30309958
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Prf1
perforin 1
ISO
RGD
PMID:22396645
RGD:6482788
NCBI chr20:29,789,040...29,794,550
Ensembl chr20:29,788,972...29,795,124
G
Tlr3
toll-like receptor 3
severity
ISO
RGD
PMID:18097050
RGD:5129216
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
G
Tlr2
toll-like receptor 2
ISO
protein:increased expression,altered expression:cytoplasm,membrane, nucleus:
RGD
PMID:24617037
RGD:8553046
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
G
Cd163
CD163 molecule
ISO
ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children
ClinVar
NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:158,770,749...158,804,146
G
Cd84
CD84 molecule
ISO
ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children
ClinVar
NCBI chr13:86,859,979...86,899,984
Ensembl chr13:86,859,990...86,894,318
G
Ifi44
interferon-induced protein 44
ISO
ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children
ClinVar
NCBI chr 2:243,286,050...243,303,869
Ensembl chr 2:243,286,052...243,306,877
G
Ifi44l
interferon-induced protein 44-like
ISO
ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children
ClinVar
NCBI chr 2:243,328,629...243,366,404
Ensembl chr 2:243,328,723...243,366,404
G
Ifih1
interferon induced with helicase C domain 1
ISO
ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children
ClinVar
PMID:19264985 PMID:25741868 PMID:28492532 PMID:28716935 PMID:33440462 PMID:34185153 PMID:34975878 PMID:36703223 More...
NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968
G
Ifna4
interferon, alpha 4
ISO
ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children
ClinVar
NCBI chr 5:108,115,064...108,116,010
Ensembl chr 5:108,115,064...108,116,010
G
Ifnar2
interferon alpha and beta receptor subunit 2
ISO
ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children
ClinVar
PMID:28492532
NCBI chr11:44,099,574...44,131,941
Ensembl chr11:44,099,753...44,131,937
G
Ifnb1
interferon beta 1
ISO
ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children
ClinVar
NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:108,066,650...108,067,487
G
Il22ra2
interleukin 22 receptor subunit alpha 2
ISO
ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children
ClinVar
NCBI chr 1:16,172,238...16,228,009
Ensembl chr 1:16,184,113...16,197,950
G
Irak3
interleukin-1 receptor-associated kinase 3
ISO
ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children
ClinVar
PMID:28492532
NCBI chr 7:57,538,522...57,600,166
Ensembl chr 7:57,539,557...57,598,706
G
Irf3
interferon regulatory factor 3
ISO
ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children
ClinVar
NCBI chr 1:104,616,608...104,621,402
Ensembl chr 1:104,616,469...104,621,401
G
Ly9
lymphocyte antigen 9
ISO
ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children
ClinVar
NCBI chr13:86,610,762...86,633,314
Ensembl chr13:86,611,784...86,657,293
G
Nlrp12
NLR family, pyrin domain containing 12
ISO
ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:74,848,020...74,885,945
Ensembl chr 1:74,848,063...74,876,341
G
Nlrp2
NLR family pyrin domain containing 2
ISO
ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children
ClinVar
NCBI chr 1:78,557,956...78,597,160
Ensembl chr 1:78,557,956...78,597,160
G
Rab27a
RAB27A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children
ClinVar
PMID:10835631 PMID:15163896 PMID:23160464 PMID:25741868 PMID:28492532
NCBI chr 8:82,663,373...82,717,267
Ensembl chr 8:82,663,276...82,717,262
G
Tlr3
toll-like receptor 3
ISO
ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children
ClinVar
PMID:25741868 PMID:26513235 PMID:28368532 PMID:28492532
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
G
Tlr6
toll-like receptor 6
ISO
ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children
ClinVar
NCBI chr14:43,715,809...43,727,019
Ensembl chr14:43,698,751...43,740,462
G
Traf3
Tnf receptor-associated factor 3
ISO
ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children
ClinVar
PMID:28492532
NCBI chr 6:136,025,097...136,128,363
Ensembl chr 6:136,027,157...136,128,363
G
Trim69
tripartite motif-containing 69
ISO
ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children
ClinVar
NCBI chr 3:129,565,060...129,585,629
Ensembl chr 3:129,564,934...129,585,629
G
Apobec3
apolipoprotein B mRNA editing enzyme catalytic subunit 3
disease_progression
ISO
associated with Arterivirus Infections
RGD
PMID:23725696
RGD:40902617
NCBI chr 7:113,314,196...113,333,306
Ensembl chr 7:113,314,171...113,333,431
G
Cd40
CD40 molecule
susceptibility
ISO
RGD
PMID:12438641
RGD:11520795
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847
G
Cd40lg
CD40 ligand
treatment
ISO
RGD
PMID:8642687
RGD:11520796
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:140,164,302...140,176,475
G
Il10
interleukin 10
ISO
RGD
PMID:23415673
RGD:7364815
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Nfkbia
NFKB inhibitor alpha
ISO
protein:decreased expression:lymph node (mouse)
RGD
PMID:10429205
RGD:127285021
NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:78,593,847...78,597,072
G
Rnasel
ribonuclease L
ISO
associated with Arterivirus Infections
RGD
PMID:23725696
RGD:40902617
NCBI chr13:68,446,641...68,460,804
Ensembl chr13:68,446,882...68,459,557
G
Trem2
triggering receptor expressed on myeloid cells 2
ISO
ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
ClinVar
PMID:3681354 PMID:12080485 PMID:12754369 PMID:12883936 PMID:12925681 PMID:15883308 PMID:18546367 PMID:21834902 PMID:23150934 PMID:23318515 PMID:23399524 PMID:23582655 PMID:23870839 PMID:24899047 PMID:24990881 PMID:25615530 PMID:25741868 PMID:27995897 PMID:28492532 PMID:28559417 PMID:28768830 PMID:29142083 PMID:29557178 PMID:30042649 PMID:30242731 PMID:33969597 More...
NCBI chr 9:20,145,215...20,151,797
Ensembl chr 9:20,144,334...20,151,779
G
Tyrobp
transmembrane immune signaling adaptor Tyrobp
ISO ISS
ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | ClinVar Annotator: match by term: TYROBP-related condition OMIM:221770 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:10888890 PMID:11109371 PMID:12370476 PMID:15883308 PMID:17125796 PMID:17430113 PMID:20500450 PMID:22082900 PMID:25741868 PMID:27658901 PMID:28492532 PMID:28620717 PMID:31996268 PMID:36133075 More...
NCBI chr 1:94,800,372...94,804,307
Ensembl chr 1:94,800,117...94,804,299
G
Nefl
neurofilament light chain
disease_progression
ISO
protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515
G
Trem2
triggering receptor expressed on myeloid cells 2
disease_progression
ISO
protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr 9:20,145,215...20,151,797
Ensembl chr 9:20,144,334...20,151,779
G
Fut2
fucosyltransferase 2
ISO
ClinVar Annotator: match by term: FUT2-related condition | ClinVar Annotator: match by term: SECRETOR/NONSECRETOR POLYMORPHISM
ClinVar
PMID:7876234 PMID:7876235 PMID:12692541 PMID:18776911 PMID:25741868 PMID:28492532 PMID:30401457 More...
NCBI chr 1:105,256,013...105,276,828
Ensembl chr 1:105,255,390...105,276,647
G
Cebpb
CCAAT/enhancer binding protein beta
susceptibility
ISO
RGD
PMID:26317211
RGD:11079756
NCBI chr 3:176,817,005...176,818,436
Ensembl chr 3:176,816,859...176,838,072
G
Il23a
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:19204111
RGD:39457957
NCBI chr 7:1,306,320...1,308,434
Ensembl chr 7:1,306,320...1,308,434
G
Lcn2
lipocalin 2
no_association
ISO
mRNA:increased expression:tongues:
RGD
PMID:24343647 PMID:24343647
RGD:126725083 , RGD:126725083
NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:36,078,436...36,081,842
G
Ltf
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chr 8:119,878,344...119,901,189
Ensembl chr 8:119,878,344...119,901,189
G
Zc3h12a
zinc finger CCCH type containing 12A
ISO
RGD
PMID:26320658
RGD:11534569
NCBI chr 5:142,661,193...142,670,051
Ensembl chr 5:142,661,199...142,669,985
G
Irf5
interferon regulatory factor 5
ISO
RGD
PMID:26468541
RGD:11075056
NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:59,081,357...59,112,552
G
Lgmn
legumain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22916010
NCBI chr 6:127,308,913...127,347,355
Ensembl chr 6:127,308,913...127,347,328
G
Pld2
phospholipase D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25065577
NCBI chr10:55,754,957...55,772,819
Ensembl chr10:55,754,988...55,771,435
G
Rig1
RNA sensor RIG-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25780039
NCBI chr 5:60,117,398...60,165,995
Ensembl chr 5:60,117,398...60,165,995
G
Tlr7
toll-like receptor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22916010
NCBI chr X:30,644,324...30,670,796
Ensembl chr X:30,644,355...30,672,151
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 2:177,436,076...177,475,969
Ensembl chr 2:177,436,094...177,475,971
G
Casp8
caspase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23358896
NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:67,758,033...67,806,699
G
Ccna1
cyclin A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23358896
NCBI chr 2:141,383,352...141,428,205
Ensembl chr 2:141,382,468...141,393,300
G
Ccng1
cyclin G1
disease_progression
ISO
associated with cervix carcinoma; protein:increased expression:cervix (human)
RGD
PMID:16845792
RGD:2316022
NCBI chr10:25,678,503...25,684,876
Ensembl chr10:25,677,885...25,683,766
G
Cd274
CD274 molecule
ISO
associated with cervix uteri carcinoma in situ; protein:increased expression:dendritic cell
RGD
PMID:23521696
RGD:40822817
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
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 5:109,100,763...109,114,448
Ensembl chr 5:109,100,772...109,119,248
G
Egfr
epidermal growth factor receptor
disease_progression
ISO
associated with squamous cell carcinoma
RGD
PMID:31430224
RGD:38599177
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:95,378,626...95,551,358
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 chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209
G
Foxp3
forkhead box P3
susceptibility
ISO
DNA:SNP::rs3761548(human)
RGD
PMID:31177386
RGD:38501104
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:17,580,380...17,595,894
G
Gstm1
glutathione S-transferase mu 1
ISO
DNA:deletion
RGD
PMID:16360200
RGD:2293831
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569
G
Il1rl1
interleukin 1 receptor-like 1
ISO
RGD
PMID:30935248
RGD:39938848
NCBI chr 9:50,157,326...50,222,888
Ensembl chr 9:50,204,551...50,222,891
G
Mir20a
microRNA 20a
ISO
associated with oral squamous cell carcinoma
RGD
PMID:26781875
RGD:26884343
NCBI chr15:98,588,303...98,588,387
Ensembl chr15:98,588,303...98,588,387
G
Mir21
microRNA 21
ISO
RNA:increased expression:cervical cell
RGD
PMID:26010154
RGD:41404529
NCBI chr10:71,902,600...71,902,691
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 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105
G
Mx1
MX dynamin like GTPase 1
exacerbates
ISO
protein:increased expression:body wart (human)
RGD
PMID:28736973
RGD:126777683
NCBI chr11:50,269,056...50,294,699
Ensembl chr11:50,269,057...50,292,904
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 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
RGD
PMID:12918070 PMID:12941545 PMID:19272325
RGD:2314694 , RGD:2314693 , RGD:2306228
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165
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 chr20:4,777,494...4,781,486
Ensembl chr20:4,776,547...4,781,574
G
Tlr3
toll-like receptor 3
resistance
ISO
mRNA:increased expression:cervix epithelium (human)
RGD
PMID:20473890
RGD:5129102
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
G
Tlr9
toll-like receptor 9
resistance
ISO
mRNA:increased expression:cervix epithelium (human)
RGD
PMID:20473890
RGD:5129102
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148
G
Vamp7
vesicle-associated membrane protein 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23358896
NCBI chr12:21,842,206...21,958,556
Ensembl chr12:21,842,228...21,958,552
G
Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased expression:nasal mucus (human)
RGD
PMID:20182399
RGD:4891406
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,738,651...68,824,884
G
Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:20053825
RGD:4891886
NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,233,329...10,242,999
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:nasal mucus
RGD
PMID:20182399
RGD:4891406
NCBI chr14:16,007,166...16,012,077
Ensembl chr14:16,007,204...16,014,299
G
Crp
C-reactive protein
ISO
RGD
PMID:17876605
RGD:9491593
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514
G
Ccl11
C-C motif chemokine ligand 11
ISO
associated with Asthma
RGD
PMID:20644177
RGD:4140459
NCBI chr10:67,525,975...67,530,576
Ensembl chr10:67,525,862...67,530,575
G
Cd1d1
CD1d1 molecule
treatment
ISO
RGD
PMID:16809320 PMID:19949077
RGD:127345105 , RGD:127345106
NCBI chr 2:174,721,522...174,725,029
Ensembl chr 2:174,721,522...174,725,029
G
Il13
interleukin 13
ISO
associated with Pulmonary Disease, Chronic Obstructive;mRNA,protein:increased expression:lung
RGD
PMID:19748999
RGD:4145626
NCBI chr10:38,290,926...38,293,483
Ensembl chr10:38,290,926...38,293,483
G
Il25
interleukin 25
ISO
mRNA, protein:increased expression:lung protein:increased expression:nasal mucus
RGD
PMID:25273095 PMID:25273095
RGD:39128256 , RGD:39128256
NCBI chr15:32,378,750...32,382,141
Ensembl chr15:32,378,750...32,382,141
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
severity
ISO
protein:increased expression:lung associated with Pulmonary Disease, Chronic Obstructive
RGD
PMID:20525715 PMID:19748999
RGD:5131431 , RGD:4145626
NCBI chr 1:206,293,717...206,326,006
Ensembl chr 1:206,293,869...206,326,006
G
Tnf
tumor necrosis factor
ISO
associated with Pulmonary Disease, Chronic Obstructive;mRNA,protein:increased expression:lung
RGD
PMID:19748999
RGD:4145626
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Tslp
thymic stromal lymphopoietin
ISO
protein:increased expression:lung (mouse) mRNA, protein:increased expression:lung,bronchoalveolar lavage fluid (mouse)
RGD
PMID:28701507 PMID:26100084
RGD:38596334 , RGD:11085671
NCBI chr18:24,723,990...24,728,419
Ensembl chr18:24,720,257...24,728,420
G
Azin1
antizyme inhibitor 1
IEP
mRNA:increased expression:alveolar macrophage
RGD
PMID:19158080
RGD:14700806
NCBI chr 7:71,539,711...71,566,515
Ensembl chr 7:71,539,711...71,566,515
G
C3
complement C3
IEP
RGD
PMID:17169032
RGD:5129525
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339
G
Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:20618689
RGD:4891428
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
G
Cd40
CD40 molecule
treatment
ISO
RGD
PMID:10968950
RGD:8547797
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847
G
Csf2
colony stimulating factor 2
IEP
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:19487471
RGD:5131475
NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,887,692...38,890,031
G
Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:17403873
RGD:39458043
NCBI chr 7:1,306,320...1,308,434
Ensembl chr 7:1,306,320...1,308,434
G
Il33
interleukin 33
treatment
ISO
RGD
PMID:21220696
RGD:40400892
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:237,115,572...237,150,901
G
Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:serum
RGD
PMID:9617869
RGD:5131424
NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:176,933,047...176,938,491
G
Nos2
nitric oxide synthase 2
IEP
mRNA:increased expression:alveolar macrophage protein:decreased dimerization:alveolar macrophage
RGD
PMID:20377877 PMID:20558778
RGD:4144112 , RGD:4891486
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:64,313,335...64,401,880
G
RT1-Bb
RT1 class II, locus Bb
IEP
RGD
PMID:20377877
RGD:4144112
NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
G
Sftpa1
surfactant protein A1
ISO
protein:increased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr16:17,042,264...17,045,770
Ensembl chr16:17,042,255...17,045,769
G
Sftpb
surfactant protein B
ISO
protein:decreased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr 4:105,917,495...105,926,631
Ensembl chr 4:105,917,578...105,927,646
G
Sftpc
surfactant protein C
ISO
protein:decreased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr15:52,006,274...52,009,324
Ensembl chr15:52,006,283...52,009,475
G
Sftpd
surfactant protein D
ISO
protein:increased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chr16:17,080,575...17,093,047
Ensembl chr16:17,080,567...17,094,036
G
Tlr2
toll-like receptor 2
ISO
RGD
PMID:18400546
RGD:4145341
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
G
Il21
interleukin 21
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:22238461
RGD:6892925
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
G
Il21r
interleukin 21 receptor
ISO
RGD
PMID:22238461
RGD:6892925
NCBI chr 1:189,598,682...189,626,340
Ensembl chr 1:189,598,558...189,626,342
G
Pdcd1
programmed cell death 1
treatment
ISO
associated with reinfection
RGD
PMID:25339663
RGD:40822811
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270
G
Pvr
PVR cell adhesion molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3020560 PMID:28446605
NCBI chr 1:88,689,235...88,704,641
Ensembl chr 1:88,688,981...88,704,630
G
Aicda
activation-induced cytidine deaminase
ISO
associated with Merkel cell carcinoma;protein:decreased expression::
RGD
PMID:28959124
RGD:30310234
NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:157,444,697...157,456,356
G
Ccl11
C-C motif chemokine ligand 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr10:67,525,975...67,530,576
Ensembl chr10:67,525,862...67,530,575
G
Ccl4
C-C motif chemokine ligand 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr10:68,963,893...68,965,728
Ensembl chr10:68,950,289...68,965,722
G
Gpr179
G protein-coupled receptor 179
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25463609
NCBI chr10:82,820,954...82,836,833
Ensembl chr10:82,821,113...82,836,833
G
Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:19,632,267...19,700,851
G
Il15
interleukin 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr19:42,536,160...42,611,349
Ensembl chr19:42,545,346...42,611,348
G
Il18
interleukin 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
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 7:57,538,522...57,600,166
Ensembl chr 7:57,539,557...57,598,706
G
Cd163
CD163 molecule
susceptibility ameliorates
ISO
RGD
PMID:27847356 PMID:30745836 PMID:31440241
RGD:127285645 RGD:127285676 RGD:127285677
NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:158,770,749...158,804,146
G
Irak3
interleukin-1 receptor-associated kinase 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (pig)
RGD
PMID:26022073
RGD:36049793
NCBI chr 7:57,538,522...57,600,166
Ensembl chr 7:57,539,557...57,598,706
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 chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515
G
Ptx3
pentraxin 3
ISO
protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
RGD
PMID:29964232
RGD:38508894
NCBI chr 2:152,797,563...152,803,372
Ensembl chr 2:152,781,955...152,803,372
G
Camk2n1
calcium/calmodulin-dependent protein kinase II inhibitor 1
ISO
RGD
PMID:17010311
RGD:18337278
NCBI chr 5:155,958,116...155,959,897
Ensembl chr 5:155,957,878...155,961,058
G
Cd274
CD274 molecule
ISO
RGD
PMID:18490751
RGD:41410795
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
G
Ncam1
neural cell adhesion molecule 1
ISO
RGD
PMID:9696812
RGD:40907065
NCBI chr 8:58,762,088...59,062,131
Ensembl chr 8:58,762,116...59,061,971
G
Nefh
neurofilament heavy chain
ISO
protein:increased expression:spinal cord:
RGD
PMID:29509660
RGD:27226884
NCBI chr14:84,044,428...84,054,413
Ensembl chr14:84,044,023...84,054,417
G
Cd274
CD274 molecule
ISO
protein:increased expression: larynx
RGD
PMID:22322668
RGD:40822813
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
G
Foxp3
forkhead box P3
susceptibility
ISO
DNA:SNPs:promoter:rs5902434,rs2232365 (human)
RGD
PMID:28298239
RGD:38549360
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:17,580,380...17,595,894
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 chr10:56,277,134...56,332,229
Ensembl chr10:56,277,134...56,323,880
G
Pdcd1
programmed cell death 1
ISO
RGD
PMID:22322668
RGD:40822813
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270
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 chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118
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 chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165
G
Tap1
transporter 1, ATP binding cassette subfamily B member
severity
ISO
DNA:polymorphism:cds:p.D637G(human)
RGD
PMID:14976605
RGD:5147844
NCBI chr20:4,658,171...4,668,543
Ensembl chr20:4,658,172...4,668,810
G
Ctsb
cathepsin B
ISO
RGD
PMID:19640986
RGD:5686877
NCBI chr15:41,565,607...41,586,479
Ensembl chr15:41,565,611...41,586,478
G
Ctsl
cathepsin L
ISO
RGD
PMID:19640986
RGD:5686877
NCBI chr17:770,104...776,266
Ensembl chr17:770,093...777,113
G
Ctss
cathepsin S
ISO
RGD
PMID:19640986
RGD:5686877
NCBI chr 2:185,775,316...185,803,440
Ensembl chr 2:185,775,296...185,803,440
G
Igf2r
insulin-like growth factor 2 receptor
resistance
IAGP
RGD
PMID:15333144
RGD:2311622
NCBI chr 1:50,526,878...50,615,265
Ensembl chr 1:50,526,878...50,615,265
G
Stat1
signal transducer and activator of transcription 1
ISO
RGD
PMID:17849321
RGD:6483036
NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:56,911,523...57,077,346
G
Ace2
angiotensin converting enzyme 2
severity treatment
ISO
human protein in a mouse model
RGD
PMID:26813885 PMID:26813885
RGD:32716392 , RGD:32716392
NCBI chr X:33,925,458...33,972,851
Ensembl chr X:33,925,458...33,971,596
G
Aicda
activation-induced cytidine deaminase
treatment
ISO
RGD
PMID:27721128
RGD:127285642
NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:157,444,697...157,456,356
G
Ccl1
C-C motif chemokine ligand 1
ISO
mRNA:increased expression:lung
RGD
PMID:11134301
RGD:4891417
NCBI chr10:67,625,962...67,628,740
Ensembl chr10:67,625,962...67,628,790
G
Ccl11
C-C motif chemokine ligand 11
ISO
RGD
PMID:10955955
RGD:4145447
NCBI chr10:67,525,975...67,530,576
Ensembl chr10:67,525,862...67,530,575
G
Ccl17
C-C motif chemokine ligand 17
ISO
mRNA:increased expression:lung
RGD
PMID:17641031
RGD:4145495
NCBI chr19:10,208,120...10,218,340
Ensembl chr19:10,208,120...10,209,895
G
Ccl5
C-C motif chemokine ligand 5
ISO
protein:altered expression:lung, T cell (mouse)
RGD
PMID:19124761
RGD:4891880
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,738,651...68,824,884
G
Ccr5
C-C motif chemokine receptor 5
ISO
DNA:snps:5' utr:g.-2459A>G, g.-2554G>T (human) protein:increased expression:blood, monocyte (human)
RGD
PMID:12964123 PMID:18439876
RGD:4892113 , RGD:4892079
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
G
Cd1d1
CD1d1 molecule
ameliorates
ISO
RGD
PMID:32463330
RGD:127345107
NCBI chr 2:174,721,522...174,725,029
Ensembl chr 2:174,721,522...174,725,029
G
Cd274
CD274 molecule
severity
ISO
protein:increased expression: lung
RGD
PMID:25465101 PMID:25465101
RGD:11056952 , RGD:11056952
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
G
Cd28
Cd28 molecule
ISO
RGD
PMID:18056387
RGD:5131621
NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:69,545,326...69,689,192
G
Cftr
CF transmembrane conductance regulator
ISO
DNA:mutation: :
RGD
PMID:20015999
RGD:4140389
NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:47,526,735...47,694,643
G
Cx3cr1
C-X3-C motif chemokine receptor 1
severity
ISO
RGD
PMID:12941892 PMID:16424189
RGD:4892018 , RGD:4892016
NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:128,654,833...128,685,983
G
Cxcl1
C-X-C motif chemokine ligand 1
ISO
mRNA:increased expression:blood
RGD
PMID:20843364
RGD:5134958
NCBI chr14:17,477,542...17,479,321
Ensembl chr14:17,477,549...17,479,811
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:18624292
RGD:5135483
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:15916706
RGD:5135444
NCBI chr14:16,007,166...16,012,077
Ensembl chr14:16,007,204...16,014,299
G
Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:18624292
RGD:5135483
NCBI chr X:70,884,293...70,886,944
Ensembl chr X:70,883,958...70,886,871
G
Dnase1
deoxyribonuclease 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28780505
NCBI chr10:12,005,305...12,030,615
Ensembl chr10:12,005,306...12,010,497
G
Icam1
intercellular adhesion molecule 1
ISO
protein:increased secretion:nasopharynx CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17425601 PMID:20209309
RGD:4140425
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:27,829,161...27,841,617
G
Ifng
interferon gamma
ISO
associated with Otitis media;protein:increased expression:serum: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21937650 PMID:19352211
RGD:8142352
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
G
Il10
interleukin 10
severity
ISO
RGD
PMID:20209309
RGD:4140425
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Il13
interleukin 13
ISO
RGD
PMID:18250447
RGD:4145641
NCBI chr10:38,290,926...38,293,483
Ensembl chr10:38,290,926...38,293,483
G
Il17a
interleukin 17A
severity
ISO
protein:increased expression:plasma
RGD
PMID:19738511
RGD:4889103
NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:30,640,844...30,644,331
G
Il18
interleukin 18
ISO
DNA:polymorphism:intron:rs360721 (human)
RGD
PMID:20130064 PMID:18043444
RGD:4889550 , RGD:4889584
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
G
Il1rl1
interleukin 1 receptor-like 1
ISO
RGD
PMID:11283151
RGD:5144238
NCBI chr 9:50,157,326...50,222,888
Ensembl chr 9:50,204,551...50,222,891
G
Il27
interleukin 27
ameliorates
ISO
RGD
PMID:22301139
RGD:126790525
NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:190,603,522...190,609,258
G
Il2ra
interleukin 2 receptor subunit alpha
ISO
RGD
PMID:20639494
RGD:5147443
NCBI chr17:71,759,802...71,808,475
Ensembl chr17:71,759,802...71,808,507
G
Il33
interleukin 33
ISO
RGD
PMID:28771101 PMID:26044350
RGD:39939029 , RGD:11342984
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:237,115,572...237,150,901
G
Il5
interleukin 5
severity
ISO
RGD
PMID:25410867
RGD:11354937
NCBI chr10:38,375,132...38,378,003
Ensembl chr10:38,375,132...38,378,003
G
Il5ra
interleukin 5 receptor subunit alpha
ISO
protein:decreased expression:blood, eosinophil
RGD
PMID:16734609
RGD:5128618
NCBI chr 4:141,186,749...141,221,348
Ensembl chr 4:141,171,158...141,220,943
G
Il6
interleukin 6
severity
ISO
protein:increased expression:nasal mucus associated with Otitis media;protein:increased expression:serum:
RGD
PMID:20622030 PMID:19352211
RGD:4143259 , RGD:8142352
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
G
Il9
interleukin 9
susceptibility
ISO
DNA:SNPs: :rs2069885, rs1799962 (human)
RGD
PMID:20503287 PMID:19915054
RGD:5128684 , RGD:5128685
NCBI chr17:8,117,028...8,120,151
Ensembl chr17:8,117,028...8,120,151
G
Irf1
interferon regulatory factor 1
IEP
protein:increased expression:dorsal root ganglion
RGD
PMID:20045913
RGD:5128775
NCBI chr10:38,417,935...38,424,946
Ensembl chr10:38,417,148...38,424,947
G
Mir21
microRNA 21
ameliorates
ISO
associated with asthma;
RGD
PMID:27448447
RGD:41404696
NCBI chr10:71,902,600...71,902,691
G
Mmp2
matrix metallopeptidase 2
ISO
mRNA, protein:increased expression, increased activity:bronchoalveolar lavage fluid
RGD
PMID:17254480
RGD:5130726
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856
G
Mmp9
matrix metallopeptidase 9
ISO
mRNA, protein:increased expression, increased activity:bronchoalveolar lavage fluid
RGD
PMID:17254480
RGD:5130726
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
associated with Respiratory Hypersensitivity; protein:increased expression:lung
RGD
PMID:15130904
RGD:5131205
NCBI chr 1:206,293,717...206,326,006
Ensembl chr 1:206,293,869...206,326,006
G
Ngf
nerve growth factor
IEP
RGD
PMID:19824047
RGD:4891065
NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:192,589,582...192,643,834
G
Ngfr
nerve growth factor receptor
IEP
RGD
PMID:19824047
RGD:4891065
NCBI chr10:81,012,077...81,030,305
Ensembl chr10:81,012,089...81,030,305
G
Pdcd1
programmed cell death 1
ISO
protein:increased expression:CD4 Tcell, CD8 Tcell from lung: protein:increased expression: CD8 Tcell from nasal wash:
RGD
PMID:25465101 PMID:25465101
RGD:11056952 , RGD:11056952
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270
G
Pde12
phosphodiesterase 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26055709
NCBI chr16:1,926,807...1,932,383
Ensembl chr16:1,922,131...1,932,611
G
Ripk3
receptor-interacting serine-threonine kinase 3
ameliorates
ISO
RGD
PMID:33303545
RGD:127229923
NCBI chr15:33,253,071...33,262,025
Ensembl chr15:33,253,071...33,262,025
G
Rsad2
radical S-adenosyl methionine domain containing 2
treatment
ISO
RGD
PMID:23018837
RGD:11554170
NCBI chr 6:48,774,985...48,788,245
Ensembl chr 6:48,774,985...48,788,320
G
RT1-M3-1
RT1 class Ib, locus M3, gene 1
ISO
RGD
PMID:10706505
RGD:5144121
NCBI chr20:1,329,227...1,333,394
Ensembl chr20:1,329,225...1,333,366
G
Sarm1
sterile alpha and TIR motif containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478430
NCBI chr10:63,867,503...63,890,872
Ensembl chr10:63,867,503...63,890,872
G
Scgb1a1
secretoglobin family 1A member 1
ISO
RGD
PMID:12847279
RGD:5144208
NCBI chr 1:215,406,138...215,409,686
Ensembl chr 1:215,406,138...215,409,686
G
Sftpa1
surfactant protein A1
susceptibility
ISO
DNA:polymorphisms, haplotype: (human) protein:decreased expression:lung
RGD
PMID:19287351 PMID:10194154
RGD:4143495 , RGD:4143439
NCBI chr16:17,042,264...17,045,770
Ensembl chr16:17,042,255...17,045,769
G
Sftpb
surfactant protein B
severity
ISO
DNA:SNPs:promoter, cds, intron:-32G>T (rs2077079), p.T131I (rs1130866), 5781A>C (rs2040349) (human) protein:decreased expression:lung
RGD
PMID:17498296 PMID:10194154
RGD:4143382 , RGD:4143439
NCBI chr 4:105,917,495...105,926,631
Ensembl chr 4:105,917,578...105,927,646
G
Sftpc
surfactant protein C
ISO
DNA:polymorphism: :138A>C, 186A>G (human)
RGD
PMID:19304906 PMID:17121584
RGD:4144065 , RGD:4144116
NCBI chr15:52,006,274...52,009,324
Ensembl chr15:52,006,283...52,009,475
G
Sftpd
surfactant protein D
susceptibility
ISO
DNA:polymorphisms: :p.M11T, p.A160T (human protein:decreased expression:lung
RGD
PMID:19287351 PMID:10194154
RGD:4143495 , RGD:4143439
NCBI chr16:17,080,575...17,093,047
Ensembl chr16:17,080,567...17,094,036
G
Tac1
tachykinin, precursor 1
IEP
mRNA,protein:increased expression:lung
RGD
PMID:10516226
RGD:5147822
NCBI chr 4:36,645,344...36,653,548
Ensembl chr 4:36,645,571...36,653,546
G
Tacr1
tachykinin receptor 1
treatment
IEP
RGD
PMID:10516226
RGD:5147822
NCBI chr 4:116,478,617...116,647,492
Ensembl chr 4:116,478,617...116,647,492
G
Ticam1
TIR domain containing adaptor molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24478430
NCBI chr 9:1,189,717...1,197,730
Ensembl chr 9:1,172,963...1,196,892
G
Tlr2
toll-like receptor 2
ISO
RGD
PMID:19019963
RGD:4889534
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
G
Tlr3
toll-like receptor 3
ISO
RGD
PMID:16424225
RGD:5129224
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
G
Tlr4
toll-like receptor 4
no_association susceptibility
ISO
DNA:SNP:cds:p.D299G (human) DNA:polymorphisms:cds:p.D259G, T359I (human) DNA:SNPs:cds:p.D299G, T399I (human)
RGD
PMID:19019963 PMID:17449325 PMID:17264400 PMID:17709532
RGD:4889534 , RGD:4144164 , RGD:4144167 , RGD:4144161
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
G
Tlr6
toll-like receptor 6
ISO
RGD
PMID:19019963
RGD:4889534
NCBI chr14:43,715,809...43,727,019
Ensembl chr14:43,698,751...43,740,462
G
Tlr7
toll-like receptor 7
ISO
associated with Bronchiolitis; mRNA:increased expression:nasopharynx (human)
RGD
PMID:19386802
RGD:5129471
NCBI chr X:30,644,324...30,670,796
Ensembl chr X:30,644,355...30,672,151
G
Tlr8
toll-like receptor 8
ISO
associated with Bronchiolitis; mRNA:increased expression:nasopharynx (human)
RGD
PMID:19386802
RGD:5129471
NCBI chr X:30,708,714...30,733,104
Ensembl chr X:30,708,033...30,737,079
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:Bronchoalveolar lavage fluid
RGD
PMID:15791294
RGD:4145715
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Tslp
thymic stromal lymphopoietin
sexual_dimorphism
ISO
mRNA:increased expression:lung (mouse) protein:increased expression:nasal mucus (human)
RGD
PMID:27156176 PMID:31076663 PMID:28471975
RGD:38549376 , RGD:38596346 , RGD:38596342
NCBI chr18:24,723,990...24,728,419
Ensembl chr18:24,720,257...24,728,420
G
Ccl28
C-C motif chemokine ligand 28
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:17954569
RGD:4892194
NCBI chr 2:53,334,071...53,358,709
Ensembl chr 2:53,334,071...53,358,709
G
Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:17641009
RGD:4892127
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
G
Mmp9
matrix metallopeptidase 9
IEP
mRNA, protein:increased expression, increased activity:lung
RGD
PMID:16816895
RGD:5130923
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442
G
Ppia
peptidylprolyl isomerase A
exacerbates
ISO
RGD
PMID:28594325
RGD:150429629
NCBI chr14:85,491,223...85,496,884
Ensembl chr14:85,492,484...85,497,115
G
Aicda
activation-induced cytidine deaminase
exacerbates treatment
ISO
RGD
PMID:16782033 PMID:25378499
RGD:127285628 , RGD:127285643
NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:157,444,697...157,456,356
G
Atm
ATM serine/threonine kinase
ameliorates
ISO
RGD
PMID:15661267
RGD:126781747
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629
G
Bst2
bone marrow stromal cell antigen 2
disease_progression
ISO
RGD
PMID:24872193 PMID:22284121 PMID:28381565
RGD:14398761 , RGD:14398822 , RGD:14398820
NCBI chr16:18,250,593...18,254,967
Ensembl chr16:18,251,847...18,254,967
G
Cd274
CD274 molecule
treatment
ISO
RGD
PMID:24187568
RGD:41410793
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
G
Il10
interleukin 10
ISO
RGD
PMID:11369878
RGD:11049463
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Atm
ATM serine/threonine kinase
ameliorates
ISO
RGD
PMID:25692705
RGD:126790565
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629
G
Mavs
mitochondrial antiviral signaling protein
severity
ISO
RGD
PMID:30460894
RGD:40903048
NCBI chr 3:138,904,673...138,919,129
Ensembl chr 3:138,904,771...138,919,126
G
Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
RGD
PMID:15882887
RGD:7349352
NCBI chr 1:206,225,775...206,261,280
Ensembl chr 1:206,229,035...206,261,280
G
Pml
PML nuclear body scaffold
ISO
associated with gastroenteritis;mRNA:decreased expression:blood (human)
RGD
PMID:31677607
RGD:41404693
NCBI chr 8:67,523,164...67,557,801
Ensembl chr 8:67,523,164...67,576,083
G
Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
susceptibility
ISO
RGD
PMID:15784866
RGD:5128832
NCBI chr 3:30,560,172...30,604,758
G
Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15381116
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942
G
Ace2
angiotensin converting enzyme 2
treatment susceptibility severity
ISO
CTD Direct Evidence: marker/mechanism mRNA, protein:decreased expression:heart (mouse) human gene in a mouse model
CTD RGD
PMID:14647384 PMID:16007097 PMID:16166518 PMID:16339146 PMID:19453650 PMID:19625462 PMID:23678171 PMID:24172901 PMID:24227843 PMID:26801988 PMID:31996437 PMID:32092392 PMID:32201080 PMID:19453650 PMID:32553273 PMID:17974127 PMID:16007097 More...
RGD:40818405 , RGD:32716426 , RGD:30309965 , RGD:30309202
NCBI chr X:33,925,458...33,972,851
Ensembl chr X:33,925,458...33,971,596
G
Anpep
alanyl aminopeptidase, membrane
disease_progression
ISO
mRNA:increased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
NCBI chr 1:143,176,645...143,219,447
Ensembl chr 1:143,176,645...143,195,101
G
Bpi
bactericidal/permeability-increasing protein
disease_progression
ISO
mRNA:increased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
NCBI chr 3:167,329,513...167,356,217
Ensembl chr 3:167,329,530...167,356,396
G
C1qb
complement C1q B chain
disease_progression
ISO
mRNA:increased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
NCBI chr 5:154,402,276...154,407,827
Ensembl chr 5:154,402,279...154,407,840
G
C5ar1
complement C5a receptor 1
disease_progression
ISO
mRNA:increased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
NCBI chr 1:86,077,309...86,088,001
G
Casp3
caspase 3
disease_progression
ISO
mRNA:increased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:52,395,540...52,413,732
G
Casp9
caspase 9
disease_progression
ISO
mRNA:increased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
Ensembl chr 5:159,391,188...159,409,648
G
Ccl1
C-C motif chemokine ligand 1
ISO
mRNA: increased expression:lung (mouse)
RGD
PMID:15356152
RGD:30309221
NCBI chr10:67,625,962...67,628,740
Ensembl chr10:67,625,962...67,628,790
G
Ccl2
C-C motif chemokine ligand 2
treatment severity
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:bronchoalveolar lavage (human) protein:increased expression:serum (human) mRNA, protein: increased expression, altered expression:lung (mouse) protein:increased expression:plasma (human)
CTD RGD
PMID:20484496 PMID:15888207 PMID:32553273 PMID:15602737 PMID:15356152 PMID:15781938 PMID:15657466 PMID:16195357 More...
RGD:34201108 , RGD:32716426 , RGD:32716399 , RGD:30309221 , RGD:30309220 , RGD:30309219 , RGD:30309218
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
G
Ccl3
C-C motif chemokine ligand 3
ISO
mRNA, protein: increased expression, altered expression:lung (mouse)
RGD
PMID:15356152
RGD:30309221
NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,948,889...68,950,439
G
Ccl5
C-C motif chemokine ligand 5
severity treatment
ISO
Severe Acute Respiratory Syndrome; DNA:transversion:5' utr:-28C>G (human) protein:increased expression:bronchoalveolar lavage (human) mRNA, protein: increased expression, altered expression:lung, brain (mouse) protein:increased expression:plasma (human) mRNA:increased expression:lung (mouse)
RGD
PMID:19258635 PMID:15888207 PMID:15865221 PMID:32553273 PMID:15356152 PMID:15781938 PMID:16195357 PMID:32365944 More...
RGD:4891448 , RGD:34201108 , RGD:33769580 , RGD:32716426 , RGD:30309221 , RGD:30309220 , RGD:30309218 , RGD:30309207
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,738,651...68,824,884
G
Ccr1
C-C motif chemokine receptor 1
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:15356152
RGD:30309221
NCBI chr 8:132,433,711...132,439,266
Ensembl chr 8:132,431,592...132,439,374
G
Ccr3
C-C motif chemokine receptor 3
ISO
mRNA:altered expression:lung (mouse)
RGD
PMID:15356152
RGD:30309221
NCBI chr 8:132,463,533...132,511,601
Ensembl chr 8:132,463,788...132,511,593
G
Cd14
CD14 molecule
disease_progression
ISO
mRNA:increased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,608,883...28,611,292
G
Cd3e
CD3 epsilon subunit of T-cell receptor complex
ISO
protein:increased expression:Tcell, testis (human)
RGD
PMID:16237152
RGD:27372876
NCBI chr 8:54,200,617...54,211,770
Ensembl chr 8:54,200,617...54,211,876
G
Cd4
Cd4 molecule
disease_progression
ISO
mRNA:increased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:159,356,337...159,381,461
G
Cd68
Cd68 molecule
disease_progression
ISO
mRNA, protein:increased expression:lung (human) protein:increased expression:macrophage, testis (human)
RGD
PMID:19635508 PMID:16237152
RGD:5490168 , RGD:27372876
NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,880,563...54,882,540
G
Cd9
CD9 molecule
disease_progression
ISO
mRNA, protein:increased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
NCBI chr 4:159,942,553...159,975,463
Ensembl chr 4:159,942,560...159,975,444
G
Clcf1
cardiotrophin-like cytokine factor 1
disease_progression
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
NCBI chr 1:210,937,763...210,947,064
Ensembl chr 1:210,937,255...210,947,064
G
Clec4m
C-type lectin domain family 4 member M
susceptibility no_association
ISO
DNA:repeats:exon 4:
RGD
PMID:16369534 PMID:18708672 PMID:17534355 PMID:17534354
RGD:35673327 , RGD:36049808 , RGD:36049807 , RGD:36049806
NCBI chr12:6,713,795...6,722,414
Ensembl chr12:6,713,812...6,722,410
G
Ctsl
cathepsin L
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16081529 PMID:16339146 PMID:22496216 PMID:23678171
NCBI chr17:770,104...776,266
Ensembl chr17:770,093...777,113
G
Cxcl1
C-X-C motif chemokine ligand 1
IEP
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:19741068
RGD:4143520
NCBI chr14:17,477,542...17,479,321
Ensembl chr14:17,477,549...17,479,811
G
Cxcl10
C-X-C motif chemokine ligand 10
treatment severity disease_progression
ISO
protein:increased expression:serum protein:increased expression:serum (human) mRNA, protein: increased expression, altered expression:lung (mouse) mRNA, protein:increased expression:serum, lung (human) mRNA, protein:increased expression:plasma, lung (human) protein:increased expression:lung (human) protein:increased expression:lung (mouse) mRNA:increased expression:lung (mouse) mRNA:decreased expression:lung (human)
RGD
PMID:17052299 PMID:15865221 PMID:32553273 PMID:15602737 PMID:15356152 PMID:15781938 PMID:15657466 PMID:16195357 PMID:17129463 PMID:20231782 PMID:32365944 PMID:19635508 More...
RGD:5135440 , RGD:33769580 , RGD:32716426 , RGD:32716399 , RGD:30309221 , RGD:30309220 , RGD:30309219 , RGD:30309218 , RGD:30309217 , RGD:30309216 , RGD:30309207 , RGD:5490168
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261
G
Cxcl11
C-X-C motif chemokine ligand 11
treatment
ISO
RGD
PMID:32553273
RGD:32716426
NCBI chr14:15,973,728...15,976,503
Ensembl chr14:15,973,720...15,976,567
G
Cxcl3
C-X-C motif chemokine ligand 3
ISO
mRNA:altered expression:lung (mouse)
RGD
PMID:32364527
RGD:27226699
NCBI chr14:17,571,900...17,573,624
Ensembl chr14:17,571,900...17,573,624
G
Cxcl6
C-X-C motif chemokine ligand 6
IEP
protein:increased expression:respiratory fluid/secretion
RGD
PMID:19741068
RGD:4143520
NCBI chr14:17,594,959...17,596,417
Ensembl chr14:17,594,959...17,596,417
G
Cxcl9
C-X-C motif chemokine ligand 9
severity treatment
ISO
mRNA, protein:increased expression:lung protein:increased expression:bronchoalveolar lavage (human) protein:increased expression:plasma (human) protein:increased expression:serum (human) mRNA, protein: increased expression, altered expression:lung (mouse)
RGD
PMID:19906920 PMID:15888207 PMID:16195357 PMID:15602737 PMID:15356152 PMID:15781938 More...
RGD:4891446 , RGD:34201108 , RGD:30309218 , RGD:32716399 , RGD:30309221 , RGD:30309220
NCBI chr14:16,007,166...16,012,077
Ensembl chr14:16,007,204...16,014,299
G
Cxcr3
C-X-C motif chemokine receptor 3
ISO
mRNA:altered expression:lung (mouse)
RGD
PMID:15356152
RGD:30309221
NCBI chr X:70,884,293...70,886,944
Ensembl chr X:70,883,958...70,886,871
G
Egfr
epidermal growth factor receptor
severity
ISO
RGD
PMID:28404843
RGD:38599178
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:95,378,626...95,551,358
G
Fgb
fibrinogen beta chain
ISO
protein:increased expression:lung (mouse)
RGD
PMID:23919993
RGD:30310231
NCBI chr 2:170,693,966...170,700,875
Ensembl chr 2:170,692,965...170,705,434
G
Fgf7
fibroblast growth factor 7
disease_progression
ISO
mRNA:increased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
NCBI chr 3:133,734,557...133,786,678
Ensembl chr 3:133,734,673...133,786,328
G
Fgg
fibrinogen gamma chain
ISO
protein:increased expression:lung (mouse)
RGD
PMID:23919993
RGD:30310231
NCBI chr 2:170,652,929...170,660,372
Ensembl chr 2:170,652,234...170,661,170
G
Fn1
fibronectin 1
ISO
protein:increased expression:lung (mouse)
RGD
PMID:23919993
RGD:30310231
NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:80,645,507...80,714,137
G
Fshb
follicle stimulating hormone subunit beta
ISO
protein:increased expression:adenohypophysis (human)
RGD
PMID:20651845
RGD:28711759
NCBI chr 3:114,003,262...114,007,072
Ensembl chr 3:114,003,262...114,007,072
G
Gh1
growth hormone 1
ISO
protein:decreased expression:adenohypophysis (human)
RGD
PMID:20651845
RGD:28711759
NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,727,884...91,729,859
G
Hp
haptoglobin
disease_progression
ISO
mRNA:increased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
NCBI chr19:54,449,151...54,453,701
Ensembl chr19:54,446,217...54,467,518
G
Ifna1
interferon, alpha 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15200845
NCBI chr 5:108,143,240...108,143,809
Ensembl chr 5:108,143,240...108,143,809
G
Ifnb1
interferon beta 1
treatment
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:15200845 PMID:26861016 PMID:32553273
RGD:32716426
NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:108,066,650...108,067,487
G
Ifng
interferon gamma
susceptibility treatment
ISO
DNA:polymorphism:cds:+874A>T(human) protein:increased expression:peripheral blood mononuclear cells (human) protein:increased expression:serum (human) DNA:SNP:intron:+874A>T (rs2430561)(human)
RGD
PMID:19258635 PMID:15865221 PMID:16781892 PMID:15602737 PMID:16672072 PMID:19526193 PMID:17872527 More...
RGD:4891448 , RGD:33769580 , RGD:32716400 , RGD:32716399 , RGD:32716398 , RGD:32716397 , RGD:32716396
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
G
Igf1
insulin-like growth factor 1
disease_progression
ISO
mRNA:increased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764
G
Il10
interleukin 10
treatment
IEP ISO
protein:increased expression:serum, bronchoalveolar Lavage fluid (rat)
RGD
PMID:16409721 PMID:15865221
RGD:32726073 , RGD:33769580
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Il18
interleukin 18
ISO
protein:increased expression:serum (human)
RGD
PMID:15602737
RGD:32716399
NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286
G
Il1a
interleukin 1 alpha
ISO
mRNA:altered expression:lung (mouse)
RGD
PMID:32364527
RGD:27226699
NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013
G
Il1b
interleukin 1 beta
severity
ISO
mRNA:altered expression:lung (mouse) mRNA, protein:increased expression:lung, bronchoalveolar lavage (mouse)
RGD
PMID:32364527 PMID:32365944
RGD:27226699 , RGD:30309207
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
G
Il1r1
interleukin 1 receptor type 1
disease_progression
ISO
mRNA:increased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
NCBI chr 9:50,000,558...50,076,579
Ensembl chr 9:50,000,566...50,076,579
G
Il23a
interleukin 23 subunit alpha
ISO
mRNA:decreased expression:lung (mouse)
RGD
PMID:32364527
RGD:27226699
NCBI chr 7:1,306,320...1,308,434
Ensembl chr 7:1,306,320...1,308,434
G
Il6
interleukin 6
severity disease_progression treatment
ISO IEP
protein:increased expression:serum (human) protein:increased expression:blood (human) protein:increased expression:bronchoalveolar lavage (human) protein:increased expression:serum, Bronchoalveolar Lavage fluid (rat)
RGD
PMID:15657466 PMID:15472864 PMID:15888207 PMID:15865221 PMID:16409721 PMID:32553273 PMID:15271897 More...
RGD:30309219 , RGD:34888224 , RGD:34201108 , RGD:33769580 , RGD:32726073 , RGD:32716426 , RGD:32716401
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
G
Il7
interleukin 7
ISO
mRNA:decreased expression:lung (mouse)
RGD
PMID:32364527
RGD:27226699
NCBI chr 2:96,142,523...96,186,282
Ensembl chr 2:96,142,092...96,187,389
G
Irf3
interferon regulatory factor 3
disease_progression
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:lung (human)
CTD RGD
PMID:26861016 PMID:19635508
RGD:5490168
NCBI chr 1:104,616,608...104,621,402
Ensembl chr 1:104,616,469...104,621,401
G
Itga2b
integrin subunit alpha 2b
disease_progression
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
NCBI chr10:87,908,697...87,926,225
Ensembl chr10:87,908,697...87,925,833
G
Krt7
keratin 7
ISO
protein:increased expression:lung (mouse)
RGD
PMID:23919993
RGD:30310231
NCBI chr 7:134,407,626...134,423,787
Ensembl chr 7:134,407,584...134,423,786
G
Lhb
luteinizing hormone subunit beta
ISO
protein:increased expression:adenohypophysis (human)
RGD
PMID:20651845
RGD:28711759
NCBI chr 1:105,037,457...105,038,446
Ensembl chr 1:105,037,457...105,038,445
G
Mapk1
mitogen activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20484496
NCBI chr11:97,462,025...97,529,193
Ensembl chr11:97,462,025...97,527,825
G
Mapk3
mitogen activated protein kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20484496
NCBI chr 1:190,797,189...190,803,411
Ensembl chr 1:190,797,185...190,803,411
G
Msr1
macrophage scavenger receptor 1
disease_progression
ISO
mRNA:increased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
NCBI chr16:59,421,250...59,507,070
Ensembl chr16:59,421,057...59,507,070
G
Myd88
MYD88, innate immune signal transduction adaptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26861016
NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:127,952,161...127,956,230
G
Nfil3
nuclear factor, interleukin 3 regulated
disease_progression
ISO
mRNA:increased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
NCBI chr17:12,432,376...12,447,605
Ensembl chr17:12,432,198...12,450,826
G
Nlrp3
NLR family, pyrin domain containing 3
ISO
RGD
PMID:32365944
RGD:30309207
NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,828,014...44,853,394
G
Pecam1
platelet and endothelial cell adhesion molecule 1
disease_progression
ISO
mRNA, protein:increased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
NCBI chr10:92,090,263...92,152,002
Ensembl chr10:92,090,235...92,151,839
G
Pi4kb
phosphatidylinositol 4-kinase beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22253445
NCBI chr 2:185,229,392...185,261,697
Ensembl chr 2:185,228,799...185,261,693
G
Plat
plasminogen activator, tissue type
ISO
protein:increased expression:plasma (human)
RGD
PMID:16274108
RGD:30309949
NCBI chr16:75,943,061...76,022,037
Ensembl chr16:75,943,064...75,967,696
G
Plg
plasminogen
ISO
protein:increased expression:lung (mouse)
RGD
PMID:23919993
RGD:30310231
NCBI chr 1:50,872,927...50,915,406
Ensembl chr 1:50,872,926...50,917,320
G
Pomc
proopiomelanocortin
ISO
protein:decreased expression:adenohypophysis (human)
RGD
PMID:20651845
RGD:28711759
NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173
G
Prl
prolactin
ISO
protein:increased expression:adenohypophysis (human)
RGD
PMID:20651845
RGD:28711759
NCBI chr17:38,287,355...38,298,234
Ensembl chr17:38,288,162...38,298,217
G
Rab31
RAB31, member RAS oncogene family
disease_progression
ISO
mRNA:increased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
NCBI chr 9:112,693,596...112,828,104
Ensembl chr 9:112,693,597...112,828,092
G
Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26861016
NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:212,333,035...212,364,817
G
RT1-Da
RT1 class II, locus Da
disease_progression
ISO
mRNA:increased expression:lung
RGD
PMID:19635508
RGD:5490168
NCBI chr20:4,515,393...4,520,387
Ensembl chr20:4,513,908...4,520,383
G
RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphism:cds:HLA-DRB1*0301 (human) DNA:polymorphism:cds:HLA-DRB1*12 (human)
RGD
PMID:15243926 PMID:19445991
RGD:32716374 RGD:32716381
NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165
G
S100a8
S100 calcium binding protein A8
disease_progression
ISO
mRNA:increased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
NCBI chr 2:178,464,095...178,465,223
Ensembl chr 2:178,464,702...178,465,221
G
Serpina3n
serpin family A member 3N
ISO
protein:increased expression:plasma
RGD
PMID:16649161
RGD:5147434
NCBI chr 6:129,088,392...129,095,950
Ensembl chr 6:129,088,398...129,097,415
G
Slpi
secretory leukocyte peptidase inhibitor
disease_progression
ISO
mRNA:increased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
NCBI chr 3:173,501,573...173,503,822
Ensembl chr 3:173,501,573...173,503,822
G
Stat1
signal transducer and activator of transcription 1
ISS
MouseDO
NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:56,911,523...57,077,346
G
Tbk1
TANK-binding kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26861016
NCBI chr 7:58,963,319...58,996,357
Ensembl chr 7:58,963,325...58,996,357
G
Tgfb1
transforming growth factor, beta 1
ISO IEP
protein:increased expression:serum (human) protein:increased expression:serum, bronchoalveolar Lavage fluid (rat)
RGD
PMID:15271897 PMID:16409721
RGD:32716401 , RGD:32726073
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899
G
Thbd
thrombomodulin
ISO
protein:increased expression:plasma (human)
RGD
PMID:16274108
RGD:30309949
NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:156,306,632...156,320,582
G
Ticam2
TIR domain containing adaptor molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26861016
NCBI chr18:41,481,057...41,498,065
Ensembl chr18:41,478,539...41,512,243
G
Tirap
TIR domain containing adaptor protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26861016
NCBI chr 8:41,789,557...41,805,903
Ensembl chr 8:41,791,878...41,796,312
G
Tlr2
toll-like receptor 2
disease_progression
ISO
mRNA:increased expression:lung (human)
RGD
PMID:19635508
RGD:5490168
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
G
Tmprss11d
transmembrane serine protease 11D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24227843
NCBI chr14:22,062,129...22,124,189
Ensembl chr14:22,062,131...22,124,505
G
Tmprss2
transmembrane serine protease 2
severity
ISO
RGD
PMID:30626688
RGD:30309210
NCBI chr11:50,403,707...50,443,224
Ensembl chr11:50,398,349...50,443,114
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:plasma (human) protein:increased expression:bronchoalveolar lavage (human)
RGD
PMID:14514395 PMID:15888207
RGD:30309961 , RGD:34201108
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Tshb
thyroid stimulating hormone subunit beta
ISO
protein:decreased expression:adenohypophysis (human)
RGD
PMID:20651845
RGD:28711759
NCBI chr 2:192,913,171...192,918,054
Ensembl chr 2:192,913,171...192,942,984
G
Vim
vimentin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26801988
NCBI chr17:81,577,261...81,585,746
Ensembl chr17:81,568,272...81,585,746
G
Vwf
von Willebrand factor
ISO
protein:increased expression:lung (mouse)
RGD
PMID:23919993
RGD:30310231
NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:160,047,982...160,177,757
G
Xcl1
X-C motif chemokine ligand 1
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:15356152
RGD:30309221
NCBI chr13:79,781,784...79,785,440
Ensembl chr13:79,781,784...79,785,440
G
Chrna5
cholinergic receptor nicotinic alpha 5 subunit
ISO
ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19) due to high levels of fibrinogen and C-reactive protein
ClinVar
PMID:18385738 PMID:18385739 PMID:18618000 PMID:19132693 PMID:19443489 PMID:19706762 PMID:20485328 PMID:20643934 PMID:20840187 PMID:20886544 PMID:21418140 PMID:22046326 PMID:22648373 PMID:22992668 PMID:24733007 PMID:27355804 PMID:29196725 PMID:29621993 PMID:29666375 PMID:30453884 PMID:31402126 PMID:31796940 More...
NCBI chr 8:64,265,879...64,294,233
Ensembl chr 8:64,265,879...64,294,233
G
Ifih1
interferon induced with helicase C domain 1
ISO
ClinVar Annotator: match by term: Susceptibility to severe COVID-19
ClinVar
PMID:19264985 PMID:25741868 PMID:28492532 PMID:28716935 PMID:33440462 PMID:34975878 PMID:36703223 More...
NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968
G
Ifnar2
interferon alpha and beta receptor subunit 2
ISO
ClinVar Annotator: match by term: Susceptibility to severe COVID-19
ClinVar
PMID:28492532
NCBI chr11:44,099,574...44,131,941
Ensembl chr11:44,099,753...44,131,937
G
Lyst
lysosomal trafficking regulator
ISO
ClinVar Annotator: match by term: Susceptibility to severe COVID-19
ClinVar
PMID:25741868 PMID:28492532 PMID:33217554
NCBI chr17:93,225,509...93,427,650
Ensembl chr17:93,225,540...93,427,650
G
Mir320a
microRNA 320a
severity
ISO
miRNA:decreased expression:peripheral blood(human)
RGD
PMID:34638691
RGD:155882551
NCBI chr15:51,926,088...51,926,169
Ensembl chr15:51,926,088...51,926,169
G
Stat2
signal transducer and activator of transcription 2
ISO
ClinVar Annotator: match by term: Susceptibility to severe COVID-19
ClinVar
PMID:25741868 PMID:28492532 PMID:32135276
NCBI chr 7:1,287,025...1,302,858
Ensembl chr 7:1,287,024...1,303,459
G
Tbk1
TANK-binding kinase 1
ISO
ClinVar Annotator: match by term: Susceptibility to severe COVID-19
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:58,963,319...58,996,357
Ensembl chr 7:58,963,325...58,996,357
G
Ticam1
TIR domain containing adaptor molecule 1
ISO
ClinVar Annotator: match by term: Susceptibility to severe COVID-19
ClinVar
PMID:28492532
NCBI chr 9:1,189,717...1,197,730
Ensembl chr 9:1,172,963...1,196,892
G
Tlr4
toll-like receptor 4
ISO
ClinVar Annotator: match by term: Susceptibility to severe COVID-19
ClinVar
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
G
Ccl20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:21715145
RGD:7483622
NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:91,836,946...91,839,736
G
Clu
clusterin
ISO
RGD
PMID:11085517
RGD:8746700
NCBI chr15:44,336,619...44,375,861
Ensembl chr15:44,359,914...44,375,860
G
Fgf10
fibroblast growth factor 10
ISO
protein:increased expression:skin (mouse)
RGD
PMID:24582960
RGD:126928134
NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980
G
Mir21
microRNA 21
ameliorates
ISO
RGD
PMID:21646541
RGD:41404663
NCBI chr10:71,902,600...71,902,691
G
Nrg1
neuregulin 1
ISO
DNA:hypermethylation:
RGD
PMID:31892232
RGD:39456089
NCBI chr16:65,954,084...67,007,484
Ensembl chr16:65,953,865...66,999,849
G
Tlr2
toll-like receptor 2
ISO
protein:increased expression,altered expression:cytoplasm,membrane, nucleus:
RGD
PMID:24617037
RGD:8553046
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
G
Irf1
interferon regulatory factor 1
treatment
ISO
DNA:SNPs,haplotype: :rs839, rs9282763(human)
RGD
PMID:18454680
RGD:42722608
NCBI chr10:38,417,935...38,424,946
Ensembl chr10:38,417,148...38,424,947
G
Mthfr
methylenetetrahydrofolate reductase
treatment
ISO
DNA:SNP:exon:rs1801133(human)
RGD
PMID:18454680
RGD:42722608
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105
G
Ace
angiotensin I converting enzyme
ISO
DNA:insertion/deletion:
RGD
PMID:16741935
RGD:40400901
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942
G
Ifnl1
interferon, lambda 1
ISO
protein:increased expression:blood serum (human)
RGD
PMID:30077763
RGD:126848745
NCBI chr 1:92,926,184...92,927,830
G
Il33
interleukin 33
ISO
influenza and Pneumonia, Staphylococcal
RGD
PMID:28401938
RGD:40400699
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:237,115,572...237,150,901
G
Aicda
activation-induced cytidine deaminase
disease_progression treatment
ISO
RGD
PMID:23028320 PMID:22281510
RGD:32716383 , RGD:32716408
NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:157,444,697...157,456,356
G
Ido1
indoleamine 2,3-dioxygenase 1
disease_progression
ISO
RGD
PMID:23785507 PMID:24799604
RGD:39939079 , RGD:39939082
NCBI chr16:74,133,259...74,145,328
Ensembl chr16:74,133,259...74,145,328
G
Irf5
interferon regulatory factor 5
disease_progression
ISO
RGD
PMID:29046356
RGD:40924628
NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:59,081,357...59,112,552
G
Klrk1
killer cell lectin like receptor K1
ISO
RGD
PMID:20130050
RGD:40818269
NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:164,767,946...164,778,382
G
Ncr1
natural cytotoxicity triggering receptor 1
severity
ISO
RGD
PMID:23602571 PMID:20130050
RGD:40818268 , RGD:40818269
NCBI chr 1:78,657,409...78,665,255
Ensembl chr 1:78,659,262...78,703,273
G
Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
severity
ISO
DNA:misense mutation, substitution:cds:S1635Y, D2850D (rs17847825, rs2230460 ) (human)
RGD
PMID:29867955 PMID:27468760 PMID:29867955
RGD:38599181 , RGD:38599196 , RGD:38599181
NCBI chr 6:54,494,247...54,529,563
Ensembl chr 6:54,478,603...54,529,509
G
Trem1
triggering receptor expressed on myeloid cells 1
severity
ISO
RGD
PMID:24453980
RGD:126925972
NCBI chr 9:20,259,227...20,276,879
Ensembl chr 9:20,261,408...20,276,892
G
Tslp
thymic stromal lymphopoietin
treatment
ISO
RGD
PMID:32060507
RGD:38549590
NCBI chr18:24,723,990...24,728,419
Ensembl chr18:24,720,257...24,728,420
G
Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:18008231
RGD:8551830
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
G
Foxp3
forkhead box P3
treatment
ISO
RGD
PMID:27284313
RGD:38456006
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:17,580,380...17,595,894
G
Nefl
neurofilament light chain
ISO
associated with age;protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515
G
Trem2
triggering receptor expressed on myeloid cells 2
ISO
associated with age;protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr 9:20,145,215...20,151,797
Ensembl chr 9:20,144,334...20,151,779
G
Mpo
myeloperoxidase
severity
ISO
RGD
PMID:12085336
RGD:40903072
NCBI chr10:73,092,124...73,102,057
Ensembl chr10:73,092,400...73,102,056
G
Tnf
tumor necrosis factor
ISO
mRNA, protein:increased expression:spleen, plasma
RGD
PMID:11562071
RGD:10449457
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Rapgef3
Rap guanine nucleotide exchange factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24218580
NCBI chr 7:130,754,883...130,777,303
Ensembl chr 7:130,754,871...130,777,668
G
Cd40
CD40 molecule
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:140,164,302...140,176,475
G
Il10
interleukin 10
no_association severity
ISO
protein:increased expression:tear DNA:SNP:promoter:−1082G>A (human) DNA:SNP:promoter:−819T>C, −592A>C (human) DNA:SNP, haplotype:promoter:−1082G>A (human) DNA:haplotype: :
RGD
PMID:18628987 PMID:11023480 PMID:11023480 PMID:15789056 PMID:17947295
RGD:7365037 , RGD:7365085 , RGD:7365085 , RGD:7365072 , RGD:7365053
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Il17a
interleukin 17A
ISO
mRNA:increased expression:conjunctiva (human)
RGD
PMID:21911461
RGD:9068420
NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:30,640,844...30,644,331
G
RT1-CE13
RT1 class I, locus CE13
ISO
DNA:polymorphisms:cds:HLA-B*14 (human, Tanzanian)
RGD
PMID:18824733
RGD:7364877
NCBI chr20:3,314,491...3,322,815
G
Tnf
tumor necrosis factor
ISO
DNA:SNP, haplotypes:promoter:−308G>A (human)
RGD
PMID:17330135
RGD:8548830
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Col1a1
collagen type I alpha 1 chain
ISO
mRNA:decreased expression:tarsal conjunctiva (human)
RGD
PMID:20375326
RGD:8552676
NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460
G
Atp1a1
ATPase Na+/K+ transporting subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28438630
NCBI chr 2:191,709,311...191,737,414
Ensembl chr 2:191,709,311...191,737,425
G
Eif2ak2
eukaryotic translation initiation factor 2-alpha kinase 2
susceptibility severity
ISO
RGD
PMID:20943971 PMID:11967338
RGD:40902816 , RGD:40902818
NCBI chr 6:21,941,147...21,977,115
Ensembl chr 6:21,952,631...21,977,116
G
Foxp3
forkhead box P3
ISO
RGD
PMID:20548030
RGD:36947870
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:17,580,380...17,595,894
G
Mavs
mitochondrial antiviral signaling protein
treatment
ISO
RGD
PMID:26849062
RGD:40903043
NCBI chr 3:138,904,673...138,919,129
Ensembl chr 3:138,904,771...138,919,126
G
Ripk3
receptor-interacting serine-threonine kinase 3
exacerbates
ISO
RGD
PMID:19524513
RGD:127229939
NCBI chr15:33,253,071...33,262,025
Ensembl chr15:33,253,071...33,262,025
G
Rnasel
ribonuclease L
susceptibility severity
ISO
RGD
PMID:20943971 PMID:11967338
RGD:40902816 , RGD:40902818
NCBI chr13:68,446,641...68,460,804
Ensembl chr13:68,446,882...68,459,557
G
Was
WASP actin nucleation promoting factor
severity
ISO
RGD
PMID:15681416
RGD:38599240
NCBI chr X:17,077,057...17,085,802
Ensembl chr X:17,073,314...17,085,802
G
Ehmt2
euchromatic histone lysine methyltransferase 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:26418342
NCBI chr20:3,924,263...3,941,238
Ensembl chr20:3,924,263...3,941,384
G
Ripk3
receptor-interacting serine-threonine kinase 3
ameliorates
ISO
RGD
PMID:25326752
RGD:127229916
NCBI chr15:33,253,071...33,262,025
Ensembl chr15:33,253,071...33,262,025
G
Stat2
signal transducer and activator of transcription 2
exacerbates
ISO
RGD
PMID:32759968
RGD:41789624
NCBI chr 7:1,287,025...1,302,858
Ensembl chr 7:1,287,024...1,303,459
G
Crp
C-reactive protein
disease_progression
ISO
RGD
PMID:14636287
RGD:9491594
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514
G
Adam33
ADAM metallopeptidase domain 33
susceptibility
ISO
DNA:SNP: :rs2787094 c.2891G>C (human)
RGD
PMID:19258923
RGD:4142862
NCBI chr 3:138,715,428...138,736,392
Ensembl chr 3:138,724,046...138,736,347
G
Bcl2
BCL2, apoptosis regulator
severity
ISO
protein:increased expression:natural killer cell, T cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr13:23,204,464...23,366,900
Ensembl chr13:23,204,464...23,366,900
G
Bcl2l1
Bcl2-like 1
severity
ISO
protein:increased expression:natural killer cell,t cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:161,745,540...161,764,907 Ensembl chr 1:161,745,540...161,764,907
G
C3
complement C3
resistance
ISO
RGD
PMID:19258923 PMID:12235218
RGD:4142862 , RGD:5129513
NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339
G
Casp1
caspase 1
ISO
RGD
PMID:15196254
RGD:5130189
NCBI chr 8:10,746,338...10,882,295
Ensembl chr 8:10,746,333...10,882,275
G
Cat
catalase
ISO
protein:decreased expression:nasal mucus
RGD
PMID:21471094
RGD:5130770
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:110,297,342...110,329,526
G
Ccl5
C-C motif chemokine ligand 5
susceptibility
ISO
protein:increased secretion:serum (human) DNA:snp:5' utr:g.-28C>G (human)
RGD
PMID:19005677 PMID:19099677
RGD:4891884 , RGD:4891881
NCBI chr10:68,820,330...68,824,906
Ensembl chr10:68,738,651...68,824,884
G
Cd14
CD14 molecule
ISO
DNA:polymorphism:promoter:c.-550C>T (human)
RGD
PMID:17471431
RGD:4144210
NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,608,883...28,611,292
G
Cd274
CD274 molecule
treatment
ISO
mRNA:increased expression:lung
RGD
PMID:22797302 PMID:22797302
RGD:40818270 , RGD:40818270
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
G
Csf2
colony stimulating factor 2
ISO
protein:increased expression:nasal mucus
RGD
PMID:20088864
RGD:4143440
NCBI chr10:38,887,692...38,889,673
Ensembl chr10:38,887,692...38,890,031
G
Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
DNA:SNP: :p.T280M (human)
RGD
PMID:18257903 PMID:16645504
RGD:4891891 , RGD:4891905
NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:128,654,833...128,685,983
G
Cxcl10
C-X-C motif chemokine ligand 10
IEP ISO
mRNA:increased expression:lung protein:increased expression:plasma
RGD
PMID:12909590 PMID:20561238
RGD:2311388 , RGD:5135493
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261
G
Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:20561238
RGD:5135493
NCBI chr X:70,884,293...70,886,944
Ensembl chr X:70,883,958...70,886,871
G
Fas
Fas cell surface death receptor
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104
G
Flt3
Fms related receptor tyrosine kinase 3
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr12:12,660,035...12,735,584
Ensembl chr12:12,659,946...12,735,581
G
Gapdh
glyceraldehyde-3-phosphate dehydrogenase
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:159,648,592...159,653,377
G
Ifnl1
interferon, lambda 1
exacerbates
ISO
associated with respiratory syncytial virus infectious disease;mRNA:increased expression:mucosa of nasopharynx (human)
RGD
PMID:24389019
RGD:126848743
NCBI chr 1:92,926,184...92,927,830
G
Il15
interleukin 15
severity
ISO
mRNA,protein:increased expression:peripheral blood mononuclear cell,serum,dendritic cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr19:42,536,160...42,611,349
Ensembl chr19:42,545,346...42,611,348
G
Il17a
interleukin 17A
susceptibility
ISO
DNA:SNP: :rs7747909(human)
RGD
PMID:17703412
RGD:4889847
NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:30,640,844...30,644,331
G
Il1rn
interleukin 1 receptor antagonist
susceptibility
ISO
DNA:SNP: :c.390T>C (rs315952) (human)
RGD
PMID:19258923
RGD:4142862
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732
G
Il33
interleukin 33
ISO
protein:increased expression:nasal mucus
RGD
PMID:28471975
RGD:38596342
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:237,115,572...237,150,901
G
Il4r
interleukin 4 receptor
susceptibility
ISO
associated with respiratory syncystial virus infection; DNA:polymorphism:cds:p. Q551R (human) DNA:SNPs: :rs1805011,rs2057768 (human)
RGD
PMID:12508140 PMID:20404812 PMID:17703412
RGD:4890022 , RGD:4889996 , RGD:4889847
NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:189,544,988...189,570,636
G
Il6
interleukin 6
ISO
mRNA, protein:increased expression:respiratory system fluid/secretion
RGD
PMID:14738241
RGD:5128668
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
G
Il9
interleukin 9
ISO
RGD
PMID:15051283
RGD:5128692
NCBI chr17:8,117,028...8,120,151
Ensembl chr17:8,117,028...8,120,151
G
Jak3
Janus kinase 3
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,420,415...18,433,222
G
Klrk1
killer cell lectin like receptor K1
susceptibility
ISO
DNA:SNP,haplotypes:3'utr: (rs10772271) (human)
RGD
PMID:29967528
RGD:39128159
NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:164,767,946...164,778,382
G
Mpo
myeloperoxidase
ISO
RGD
PMID:7841728
RGD:5130995
NCBI chr10:73,092,124...73,102,057
Ensembl chr10:73,092,400...73,102,056
G
Muc1
mucin 1, cell surface associated
severity
ISO
protein:increased expression:serum
RGD
PMID:19856476
RGD:5131164
NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:176,933,047...176,938,491
G
Nfkb1
nuclear factor kappa B subunit 1
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr 2:226,689,745...226,805,897
Ensembl chr 2:226,689,745...226,783,088
G
Nfkbia
NFKB inhibitor alpha
susceptibility
ISO
associated with respiratory syncytial virus infectious disease;DNA:SNP:promoter: (rs2233406) (human)
RGD
PMID:23487427
RGD:40902982
NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:78,593,847...78,597,072
G
Nos2
nitric oxide synthase 2
susceptibility
ISO
DNA:SNP: :rs1060826(human)
RGD
PMID:17703412
RGD:4889847
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:64,313,335...64,401,880
G
Pdcd1
programmed cell death 1
ISO
protein:increased expression:CD8 T cell
RGD
PMID:22797302
RGD:40818270
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270
G
Postn
periostin
ISO
mRNA,protein:increased expression:nasal mucus
RGD
PMID:28471975
RGD:38596342
NCBI chr 2:140,677,774...140,709,304
Ensembl chr 2:140,677,754...140,709,300
G
Stat5a
signal transducer and activator of transcription 5A
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr10:86,285,859...86,310,187
Ensembl chr10:86,285,547...86,310,184
G
Tlr4
toll-like receptor 4
ISO
protein:increased expression:monocyte protein:decreased expression:neutrophil
RGD
PMID:14738455 PMID:19497921
RGD:4144819 , RGD:4144183
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
G
Tlr5
toll-like receptor 5
susceptibility
ISO
DNA:snp:cds:p.F616L rs5744174 (human)
RGD
PMID:19258923
RGD:4142862
NCBI chr13:97,166,430...97,190,642
Ensembl chr13:97,166,405...97,192,525
G
Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP: :rs1799724(human) DNA:polymorphism:promoter: c. -308A>G (human) protein:increased expression:nasal lavage fluid
RGD
PMID:17703412 PMID:19849941 PMID:20088864
RGD:4889847 , RGD:4143441 , RGD:4143440
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Tnfrsf10b
TNF receptor superfamily member 10b
severity
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:26541527
RGD:40902860
NCBI chr15:51,249,883...51,278,091
Ensembl chr15:51,250,112...51,278,082
G
Tslp
thymic stromal lymphopoietin
severity
ISO
mRNA, protein:increased expression:nasal mucus (human)
RGD
PMID:28471975
RGD:38596342
NCBI chr18:24,723,990...24,728,419
Ensembl chr18:24,720,257...24,728,420
G
Vdr
vitamin D receptor
susceptibility
ISO
DNA:SNP (human) DNA:SNP: :rs10735810 (human)
RGD
PMID:18266602 PMID:17703412
RGD:4889843 , RGD:4889847
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757
G
Adrb2
adrenoceptor beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr18:57,912,760...57,914,802
Ensembl chr18:57,911,348...57,914,803
G
Becn1
beclin 1
ISO
associated with HIV infections;protein:increased expression:brain
RGD
PMID:21592995
RGD:6483316
NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,731,650...86,747,002
G
Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:18158733
RGD:5688146
NCBI chr 8:132,433,711...132,439,266
Ensembl chr 8:132,431,592...132,439,374
G
Cd274
CD274 molecule
ISO
protein:increased expression: myeloid cells, microglia, astrocytes
RGD
PMID:20876353 PMID:31105690
RGD:6893671 , RGD:40818239
NCBI chr 1:236,526,215...236,549,956
Ensembl chr 1:236,496,463...236,549,951
G
E2f1
E2F transcription factor 1
ISO
associated with HIV Infections; protein:increased expression:brain, neuron, cytoplasm:
RGD
PMID:11896158
RGD:10401094
NCBI chr 3:163,524,739...163,535,563
Ensembl chr 3:163,524,739...163,535,563
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:30770561
RGD:39939045
NCBI chr16:74,133,259...74,145,328
Ensembl chr16:74,133,259...74,145,328
G
Il1rl1
interleukin 1 receptor-like 1
severity
ISO
mRNA:increased expression:brain
RGD
PMID:27334012 PMID:27334012
RGD:39457934 , RGD:39457934
NCBI chr 9:50,157,326...50,222,888
Ensembl chr 9:50,204,551...50,222,891
G
Il33
interleukin 33
ISO
mRNA,protein:increased expression:brain,F4/80+ cell
RGD
PMID:27334012
RGD:39457934
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:237,115,572...237,150,901
G
Mmp9
matrix metallopeptidase 9
ISO
associated with influenza; protein:increased expression:serum
RGD
PMID:17529876
RGD:5130920
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442
G
Oprm1
opioid receptor, mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr 1:45,565,371...45,818,722
Ensembl chr 1:45,565,371...45,638,756
G
Pdcd1
programmed cell death 1
ISO
protein:increased expression: CD8 T celll
RGD
PMID:31105690
RGD:40818239
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:101,866,126...101,879,270
G
Cd1d1
CD1d1 molecule
exacerbates
ISO
associated with Herpesviridae Infections
RGD
PMID:30185591
RGD:127345098
NCBI chr 2:174,721,522...174,725,029
Ensembl chr 2:174,721,522...174,725,029
G
Ca1
carbonic anhydrase 1
ISO
RGD
PMID:12806141
RGD:408425977
NCBI chr 2:88,550,681...88,593,454
Ensembl chr 2:88,495,475...88,593,454
G
Car2
carbonic anhydrase 2
ISO
RGD
PMID:12806141
RGD:408425977
NCBI chr 2:88,462,883...88,478,012
Ensembl chr 2:88,462,872...88,478,064
G
Ifng
interferon gamma
ISO
mRNA:increased expression:liver
RGD
PMID:17158635
RGD:38501106
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
G
Il18bp
interleukin 18 binding protein
ISO
ClinVar Annotator: match by term: Hepatitis, fulminant viral, susceptibility to
ClinVar
PMID:25741868 PMID:28492532 PMID:31213488
NCBI chr 1:165,784,916...165,787,990
Ensembl chr 1:165,784,069...165,786,955
G
Il2
interleukin 2
susceptibility
ISO
DNA:polymorphism::-330T>G(human)
RGD
PMID:21162873
RGD:14747036
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672
G
Stat4
signal transducer and activator of transcription 4
susceptibility
ISO
protein:increased phosphorylation:liver, inflammatory cell (human)
RGD
PMID:24731448
RGD:25671417
NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:56,911,523...57,077,346
G
Tert
telomerase reverse transcriptase
disease_progression
ISO
RGD
PMID:17212643
RGD:14696781
NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111
G
Trem1
triggering receptor expressed on myeloid cells 1
disease_progression
ISO
RGD
PMID:27328755
RGD:126925974
NCBI chr 9:20,259,227...20,276,879
Ensembl chr 9:20,261,408...20,276,892
G
Tlr4
toll-like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
G
Adar
adenosine deaminase, RNA-specific
ISO
protein:alternative form:heart (mouse) associated with Coxsackievirus Infections
RGD
PMID:30669342 PMID:27584568
RGD:125097512 , RGD:125097517
NCBI chr 2:177,436,076...177,475,969
Ensembl chr 2:177,436,094...177,475,971
G
Casp3
caspase 3
treatment
ISO
RGD
PMID:29977885 PMID:21055654 PMID:24303754 PMID:27184135 PMID:27693786 PMID:29556195 More...
RGD:13702866 , RGD:13702877 , RGD:13702873 , RGD:13702871 , RGD:13702870 , RGD:13702867
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:52,395,540...52,413,732
G
Casp8
caspase 8
ISO
RGD
PMID:21055654
RGD:13702877
NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:67,758,033...67,806,699
G
Cd1d1
CD1d1 molecule
ameliorates
ISO
associated with Coxsackievirus Infections
RGD
PMID:12626572
RGD:127345102
NCBI chr 2:174,721,522...174,725,029
Ensembl chr 2:174,721,522...174,725,029
G
Cd40
CD40 molecule
ISO
RGD
PMID:10440754
RGD:13702887
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:174,209,719...174,224,847
G
Cd40lg
CD40 ligand
treatment
ISO IMP
RGD
PMID:19914091 PMID:9721703 PMID:11945021
RGD:13702885 , RGD:13702888 , RGD:13702886
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:140,164,302...140,176,475
G
Cd55
CD55 molecule (Cromer blood group)
treatment
ISO
RGD
PMID:12533688
RGD:13702890
NCBI chr13:44,409,574...44,438,913
Ensembl chr13:44,409,587...44,438,107
G
Cd80
Cd80 molecule
treatment
ISO
RGD
PMID:29039143
RGD:13702893
NCBI chr11:75,760,073...75,798,978
Ensembl chr11:75,760,147...75,797,540
G
Cd86
CD86 molecule
treatment
ISO
RGD
PMID:10398149
RGD:13702899
NCBI chr11:77,647,565...77,706,178
Ensembl chr11:77,647,600...77,725,361
G
Cd8a
CD8 subunit alpha
ISO
associated with Coxsackievirus Infections;protein:increased expression:myocardium (mouse)
RGD
PMID:17113076
RGD:124715457
NCBI chr 4:104,924,116...104,928,353
Ensembl chr 4:104,900,833...104,928,358
G
F3
coagulation factor III, tissue factor
ISO
RGD
PMID:18495150
RGD:11341693
NCBI chr 2:212,511,675...212,523,375
Ensembl chr 2:212,511,680...212,523,369
G
Icam1
intercellular adhesion molecule 1
treatment
ISO
RGD
PMID:11156888 PMID:11092674
RGD:13702912 , RGD:13702913
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:27,829,161...27,841,617
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:31416389
RGD:39939047
NCBI chr16:74,133,259...74,145,328
Ensembl chr16:74,133,259...74,145,328
G
Ifnb1
interferon beta 1
exacerbates
ISO
associated with Coxsackievirus Infections
RGD
PMID:15249500
RGD:401854229
NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:108,066,650...108,067,487
G
Ifng
interferon gamma
treatment
ISO
RGD
PMID:11092674
RGD:13702913
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216
G
Il17a
interleukin 17A
treatment
ISO
RGD
PMID:23702425
RGD:9227415
NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:30,640,844...30,644,331
G
Il21
interleukin 21
treatment
ISO
RGD
PMID:25889760
RGD:127285552
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:122,045,240...122,055,142
G
Il27
interleukin 27
ameliorates
ISO
RGD
PMID:26578236
RGD:126790546
NCBI chr 1:190,603,684...190,609,292
Ensembl chr 1:190,603,522...190,609,258
G
Il33
interleukin 33
treatment
ISO
RGD
PMID:28041873
RGD:40400900
NCBI chr 1:237,115,478...237,149,897
Ensembl chr 1:237,115,572...237,150,901
G
Il6
interleukin 6
severity
ISO
mRNA:increased expression:heart (mouse)
RGD
PMID:25998987
RGD:401850594
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
G
Mir146b
microRNA 146b
ameliorates
ISO
associated with Coxsackievirus Infections
RGD
PMID:23588407
RGD:41404640
NCBI chr 1:255,144,860...255,144,947
Ensembl chr 1:255,144,860...255,144,947
G
Mir21
microRNA 21
ameliorates
ISO
associated with Coxsackievirus Infections
RGD
PMID:23588407 PMID:23544605
RGD:41404640 , RGD:41404700
NCBI chr10:71,902,600...71,902,691
G
Nrg1
neuregulin 1
ISO
associated with Coxsackievirus Infections;protein:increased expression:heart (mouse)
RGD
PMID:31396490
RGD:39131284
NCBI chr16:65,954,084...67,007,484
Ensembl chr16:65,953,865...66,999,849
G
Plau
plasminogen activator, urokinase
susceptibility
ISO
mRNA:increased expression:heart (mouse)
RGD
PMID:19246678
RGD:7241803
NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,505,487...3,512,030
G
Ppia
peptidylprolyl isomerase A
ameliorates
ISO
associated with Coxsackievirus Infections
RGD
PMID:22446162
RGD:150429627
NCBI chr14:85,491,223...85,496,884
Ensembl chr14:85,492,484...85,497,115
G
Srebf1
sterol regulatory element binding transcription factor 1
severity
ISO
mRNA:increased expression:heart (mouse)
RGD
PMID:25998987
RGD:401850594
NCBI chr10:45,507,152...45,529,164
Ensembl chr10:45,507,152...45,529,164
G
Srf
serum response factor
severity
ISO
mRNA:increased expression:heart (mouse)
RGD
PMID:25998987
RGD:401850594
NCBI chr 9:21,924,050...21,933,338
Ensembl chr 9:21,924,076...21,933,337
G
Zc3h12a
zinc finger CCCH type containing 12A
disease_progression
ISO
associated with Coxsackievirus Infections; mRNA,protein:increased expression:heart,pancreas (mouse)
RGD
PMID:29043433
RGD:39938975
NCBI chr 5:142,661,193...142,670,051
Ensembl chr 5:142,661,199...142,669,985
G
Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15381116
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942
G
Ccl11
C-C motif chemokine ligand 11
ISO
RGD
PMID:20644177
RGD:4140459
NCBI chr10:67,525,975...67,530,576
Ensembl chr10:67,525,862...67,530,575
G
Ccl2
C-C motif chemokine ligand 2
ISO
RGD
PMID:19617401
RGD:4891451
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
G
Ccl3
C-C motif chemokine ligand 3
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr10:68,948,889...68,950,439
Ensembl chr10:68,948,889...68,950,439
G
Ccl4
C-C motif chemokine ligand 4
ISO
RGD
PMID:20957032
RGD:5130904
NCBI chr10:68,963,893...68,965,728
Ensembl chr10:68,950,289...68,965,722
G
Ccr1
C-C motif chemokine receptor 1
ISO
RGD
PMID:15254170
RGD:5688163
NCBI chr 8:132,433,711...132,439,266
Ensembl chr 8:132,431,592...132,439,374
G
Cd68
Cd68 molecule
ISO
mRNA:increased expression:lung,trachea (mouse)
RGD
PMID:12581500
RGD:40925942
NCBI chr10:54,880,562...54,882,441
Ensembl chr10:54,880,563...54,882,540
G
Cxcl1
C-X-C motif chemokine ligand 1
IEP
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:19671179
RGD:5134975
NCBI chr14:17,477,542...17,479,321
Ensembl chr14:17,477,549...17,479,811
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:17655904
RGD:5135437
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,989,018...15,991,261
G
Cxcl16
C-X-C motif chemokine ligand 16
ISO
mRNA:decreased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr10:55,665,355...55,669,950
Ensembl chr10:55,664,742...55,670,226
G
Cxcl2
C-X-C motif chemokine ligand 2
IEP
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:19671179
RGD:5134975
NCBI chr14:17,465,210...17,467,255
Ensembl chr14:17,465,242...17,467,255
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:17655904
RGD:5135437
NCBI chr14:16,007,166...16,012,077
Ensembl chr14:16,007,204...16,014,299
G
Fgf10
fibroblast growth factor 10
treatment
ISO
protein:increased expression:epithelial stem/progenitor cells (mouse)
RGD
PMID:27322618 PMID:27322618
RGD:127284849 , RGD:127284849
NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980
G
Fgfr2
fibroblast growth factor receptor 2
ISO
protein:increased expression:epithelial stem/progenitor cells (mouse)
RGD
PMID:27322618
RGD:127284849
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914
G
Hmox1
heme oxygenase 1
ISO
mRNA:increased expression:lung
RGD
PMID:8843786
RGD:4145417
NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818
G
Ifnar1
interferon alpha and beta receptor subunit 1
disease_progression
ISO
H1N1 virus susceptibility
RGD
PMID:21383977 PMID:21383977
RGD:5490272 , RGD:5490272
NCBI chr11:44,211,769...44,238,206
Ensembl chr11:44,211,845...44,238,205
G
Il10
interleukin 10
treatment
ISO
RGD
PMID:25219125
RGD:10450576
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580
G
Il15
interleukin 15
ISO
RGD
PMID:20335267
RGD:4892670
NCBI chr19:42,536,160...42,611,349
Ensembl chr19:42,545,346...42,611,348
G
Il17ra
interleukin 17 receptor A
ISO
mRNA:decreased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 4:155,339,742...155,362,382
Ensembl chr 4:155,339,400...155,362,382
G
Il1b
interleukin 1 beta
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
G
Il1rn
interleukin 1 receptor antagonist
ISO
mRNA:increased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732
G
Il4r
interleukin 4 receptor
ISO
mRNA:decreased expression:bronchoalveolar lavage (human)
RGD
PMID:32407669
RGD:30296672
NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:189,544,988...189,570,636
G
Mif
macrophage migration inhibitory factor
ISO
RGD
PMID:19941385
RGD:4891005
NCBI chr20:12,767,138...12,791,222
Ensembl chr 4:134,041,774...134,042,121 Ensembl chr20:134,041,774...134,042,121
G
Tlr9
toll-like receptor 9
ISO
DNA:snp:promoter:g.-1237T>C rs5743836 (human)
RGD
PMID:19539691
RGD:5130766
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148
G
Tnf
tumor necrosis factor
treatment
ISO
RGD
PMID:25219125
RGD:10450576
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303
G
Bst2
bone marrow stromal cell antigen 2
ISO
associated with Retroviridae Infections;
RGD
PMID:28381565
RGD:14398820
NCBI chr16:18,250,593...18,254,967
Ensembl chr16:18,251,847...18,254,967
G
Il2rb
interleukin 2 receptor subunit beta
ISO
RGD
PMID:29307521
RGD:42724467
NCBI chr 7:111,913,828...111,928,537
Ensembl chr 7:111,913,828...111,928,537
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:23853597
RGD:39938863
NCBI chr16:74,133,259...74,145,328
Ensembl chr16:74,133,259...74,145,328
G
Ltf
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chr 8:119,878,344...119,901,189
Ensembl chr 8:119,878,344...119,901,189
G
Mbl2
mannose binding lectin 2
ISO
DNA:SNP:cds:
RGD
PMID:17470593
RGD:8693700
NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546
G
Ifih1
interferon induced with helicase C domain 1
ISO
mRNA:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968
G
Lcn2
lipocalin 2
ISO
mRNA,protein:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:36,078,436...36,081,842
G
Rig1
RNA sensor RIG-1
ISO
mRNA:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr 5:60,117,398...60,165,995
Ensembl chr 5:60,117,398...60,165,995
G
Rnasel
ribonuclease L
disease_progression
ISO
RGD
PMID:16809306
RGD:40902815
NCBI chr13:68,446,641...68,460,804
Ensembl chr13:68,446,882...68,459,557
G
Sting1
stimulator of interferon response cGAMP interactor 1
severity
ISO
RGD
PMID:31415679
RGD:39128224
NCBI chr18:27,606,196...27,612,544
Ensembl chr18:27,606,196...27,611,947
G
Tlr3
toll-like receptor 3
ISO
mRNA:increased expression:brain
RGD
PMID:24173226
RGD:126781836
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:53,555,131...53,568,385
G
Ccr5
C-C motif chemokine receptor 5
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: West Nile virus, susceptibility to
CTD OMIM ClinVar
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 PMID:9140404 PMID:9207783 PMID:9466996 PMID:9511755 PMID:9585595 PMID:9600249 PMID:9768627 PMID:10520641 PMID:10615909 PMID:10803840 PMID:11081537 PMID:11403804 PMID:11403814 PMID:11517319 PMID:11781692 PMID:12874407 PMID:15744032 PMID:15863470 PMID:16216086 PMID:16248677 PMID:16418398 PMID:19017985 PMID:19073967 PMID:28492532 More...
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
G
Irf5
interferon regulatory factor 5
disease_progression
ISO
RGD
PMID:25031348
RGD:40924561
NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:59,081,357...59,112,552
G
Mavs
mitochondrial antiviral signaling protein
severity
ISO
RGD
PMID:28094802
RGD:40903045
NCBI chr 3:138,904,673...138,919,129
Ensembl chr 3:138,904,771...138,919,126
G
Rfc1
replication factor C subunit 1
susceptibility
ISO
DNA:silent mutation:CDS:p.P847P (rs2066786) (human)
RGD
PMID:21881118
RGD:41410434
NCBI chr14:43,319,768...43,395,028
Ensembl chr14:43,319,935...43,395,026
G
S100b
S100 calcium binding protein B
ISO
RGD
PMID:19790244
RGD:5508797
NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,348...12,381,081
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 chr13:42,630,383...42,634,288
Ensembl chr13:42,630,104...42,634,459
G
Tlr7
toll-like receptor 7
ISO
ClinVar Annotator: match by term: Immunodeficiency 74, COVID-19-related, X-linked | ClinVar Annotator: match by term: TLR7-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:32706371
NCBI chr X:30,644,324...30,670,796
Ensembl chr X:30,644,355...30,672,151
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:75,159,635...75,267,094
Ensembl chr X:75,159,782...75,267,093
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:74,916,548...75,062,880
Ensembl chr X:74,916,548...75,062,880
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:75,149,036...75,155,285
Ensembl chr X:75,148,996...75,155,284
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:27770395 PMID:28353193 PMID:28492532 PMID:31036665 PMID:31993868 PMID:32499645 PMID:32581362 PMID:33831577 More...
NCBI chr X:75,104,040...75,145,247
Ensembl chr X:75,106,172...75,145,365
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:75,336,988...75,352,962
Ensembl chr X:75,336,687...75,352,959
G
Stat2
signal transducer and activator of transcription 2
susceptibility
ISO
RGD
PMID:31043530
RGD:41789622
NCBI chr 7:1,287,025...1,302,858
Ensembl chr 7:1,287,024...1,303,459
G
Atf4
activating transcription factor 4
ISO
mRNA:increased expression:brain
RGD
PMID:30241539
RGD:32733625
NCBI chr 7:113,684,681...113,686,739
Ensembl chr 7:113,684,681...113,686,739
G
Atg16l1
autophagy related 16-like 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28694387
NCBI chr 9:95,869,839...95,905,354
Ensembl chr 9:95,869,865...95,905,357
G
Ddit3
DNA-damage inducible transcript 3
ISO
mRNA:increased expression:brain
RGD
PMID:30241539
RGD:32733625
NCBI chr 7:65,001,695...65,006,517
Ensembl chr 7:65,005,501...65,006,509
G
Edem1
ER degradation enhancing alpha-mannosidase like protein 1
ISO
mRNA:increased expression:brain
RGD
PMID:30241539
RGD:32733625
NCBI chr 4:143,350,989...143,385,693
Ensembl chr 4:143,353,624...143,388,060
G
Ern1
endoplasmic reticulum to nucleus signaling 1
ISO
RGD
PMID:30241539
RGD:32733625
NCBI chr10:91,826,663...91,920,976
Ensembl chr10:91,830,428...91,920,791
G
Hspa5
heat shock protein family A (Hsp70) member 5
ISO
mRNA,protein:increased expression:brain
RGD
PMID:30241539
RGD:32733625
NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:38,453,041...38,458,790
G
Ppp1r15a
protein phosphatase 1, regulatory subunit 15A
ISO
mRNA:increased expression:brain
RGD
PMID:30241539
RGD:32733625
NCBI chr 1:105,136,521...105,139,596
Ensembl chr 1:105,136,525...105,139,774
G
Stat2
signal transducer and activator of transcription 2
susceptibility
ISO
human gene in a mouse model
RGD
PMID:29746837 PMID:28278235
RGD:41789627 , RGD:41789631
NCBI chr 7:1,287,025...1,302,858
Ensembl chr 7:1,287,024...1,303,459
G
Xbp1
X-box binding protein 1
ISO
protein:increased expression:cerebellum, mesocephalon
RGD
PMID:30241539
RGD:32733625
NCBI chr14:84,604,623...84,609,707
Ensembl chr14:84,604,107...84,609,706
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all