RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | disease by infectious agent |
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Accession: | DOID:0050117
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browse the term
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Definition: | A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. |
Synonyms: | exact_synonym: | Communicable Disease; Communicable Diseases; Infection; Infections; Infectious Disease; Infectious Diseases |
| narrow_synonym: | Recurrent infections |
| primary_id: | MESH:D003141; MESH:D007239; RDO:0004844; RDO:0005249 |
| xref: | ICD9CM:079.0 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Crp |
C-reactive protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3285537 |
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NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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Dnah8 |
dynein, axonemal, heavy chain 8 |
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ISO |
ClinVar Annotator: match by term: Recurrent infections |
ClinVar |
PMID:25741868 |
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NCBI chr20:9,301,317...9,560,805
Ensembl chr20:9,313,271...9,560,682
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Lyst |
lysosomal trafficking regulator |
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ISO |
ClinVar Annotator: match by term: Recurrent infections |
ClinVar |
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NCBI chr17:90,323,055...90,522,091
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Mbl2 |
mannose binding lectin 2 |
no_association |
ISO |
DNA:haplotype,SNP:promoter: CTD Direct Evidence: marker/mechanism associated with Precursor T-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphisms:promoter,exon: |
CTD |
PMID:7707811, PMID:22444663, PMID:16494622 |
RGD:8693694, RGD:11530059 |
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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Pepd |
peptidase D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16470701 |
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NCBI chr 1:90,820,670...91,285,128
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Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6088243 PMID:6254450 |
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NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Samd9 |
sterile alpha motif domain containing 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27182967 |
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NCBI chr 4:28,304,967...28,324,637
Ensembl chr 4:28,305,002...28,310,178
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Serpind1 |
serpin family D member 1 |
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ISO |
associated with Disseminated Intravascular Coagulation;protein:decreased expression:plasma (human) |
RGD |
PMID:12361205 |
RGD:1580300 |
NCBI chr11:87,913,814...87,924,880
Ensembl chr11:87,913,806...87,924,816
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Stat1 |
signal transducer and activator of transcription 1 |
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ISO |
ClinVar Annotator: match by term: Recurrent infections |
ClinVar |
PMID:21714643 PMID:21727188 PMID:22195034 PMID:22847544 PMID:25367169 PMID:25741868 PMID:26242301 PMID:26604104 PMID:28258222 PMID:28492532 |
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NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
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Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16513158 |
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NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Xiap |
X-linked inhibitor of apoptosis |
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ISO |
ClinVar Annotator: match by term: Recurrent infections |
ClinVar |
PMID:25741868 |
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NCBI chr X:128,409,425...128,455,786
Ensembl chr X:128,409,472...128,453,000
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Tlr4 |
toll-like receptor 4 |
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IEP |
mRNA,protein:increased expression:cornea |
RGD |
PMID:21155840 |
RGD:7777095 |
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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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 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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Bst2 |
bone marrow stromal cell antigen 2 |
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ISO |
DNA:SNPs: : |
RGD |
PMID:26885809 |
RGD:14398494 |
NCBI chr16:19,938,781...19,942,353
Ensembl chr16:19,938,784...19,942,353
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Ccl4 |
C-C motif chemokine ligand 4 |
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ISO |
DNA:SNP:3' utr:rs1719153 (human) |
RGD |
PMID:16773571 |
RGD:5683896 |
NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
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Ccr5 |
C-C motif chemokine receptor 5 |
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ISO |
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to |
ClinVar |
PMID:9742978 PMID:12610055 PMID:12815099 |
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NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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Cd209 |
CD209 molecule |
disease_progression |
ISO |
associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human) |
RGD |
PMID:17530998 |
RGD:39939010 |
NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
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Cd40lg |
CD40 ligand |
treatment |
ISO |
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RGD |
PMID:9499800 |
RGD:11344976 |
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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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 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
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Ido1 |
indoleamine 2,3-dioxygenase 1 |
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ISO |
associated with pulmonary tuberculosis;protein:increased expression:blood (human) |
RGD |
PMID:32369456 |
RGD:39939073 |
NCBI chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
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Ifng |
interferon gamma |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to |
CTD ClinVar |
PMID:9612607 PMID:12854077 |
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NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Igf2 |
insulin-like growth factor 2 |
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ISO |
protein:decreased expression:plasma |
RGD |
PMID:11232005 |
RGD:5509969 |
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
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Il2 |
interleukin 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9861562 |
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NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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Il4r |
interleukin 4 receptor |
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ISO |
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, slow progression to |
ClinVar |
PMID:2278997 PMID:2307934 PMID:9620765 PMID:15712015 PMID:16189667 |
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NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
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Kir3dl1 |
killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 |
severity |
ISO |
DNA:missense mutation:cds: p.I47V (rs643347) (human) |
RGD |
PMID:29461980 |
RGD:38676267 |
NCBI chr 1:73,306,564...73,345,009
Ensembl chr 1:73,307,569...73,344,955
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LOC100364500 |
RT1 class I, locus CE11-like |
susceptibility |
ISO |
DNA:polymorphism: :HLA-A31 |
RGD |
PMID:19030725 |
RGD:36049809 |
NCBI chr20:2,704,153...2,707,111
Ensembl chr20:2,704,148...2,707,120
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Ncr1 |
natural cytotoxicity triggering receptor 1 |
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ISO |
protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) |
RGD |
PMID:27382604 |
RGD:40818276 |
NCBI chr 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
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Ncr3 |
natural cytotoxicity triggering receptor 3 |
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ISO |
protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human) |
RGD |
PMID:27382604 |
RGD:40818276 |
NCBI chr20:5,170,169...5,175,773
Ensembl chr20:5,170,215...5,175,773
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Tnf |
tumor necrosis factor |
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ISO |
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RGD |
PMID:8548330 |
RGD:12904035 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Tnfrsf1a |
TNF receptor superfamily member 1A |
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ISO |
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RGD |
PMID:8548330 |
RGD:12904035 |
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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Tnfrsf1b |
TNF receptor superfamily member 1B |
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ISO |
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RGD |
PMID:8548330 |
RGD:12904035 |
NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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Vdr |
vitamin D receptor |
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ISO |
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GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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Defb1 |
defensin beta 1 |
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IEP |
mRNA:increased expression:gingival epithelium |
RGD |
PMID:17076783 |
RGD:4892269 |
NCBI chr16:75,294,385...75,309,127
Ensembl chr16:75,294,376...75,309,176
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Ifng |
interferon gamma |
disease_progression |
ISO |
protein:increased expression:T cell: |
RGD |
PMID:11063842 |
RGD:8157598 |
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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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 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
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Klrk1 |
killer cell lectin like receptor K1 |
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ISO |
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RGD |
PMID:21076062 |
RGD:39018557 |
NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
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Birc5 |
baculoviral IAP repeat-containing 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16497974 |
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NCBI chr10:106,856,097...106,864,419
Ensembl chr10:106,856,097...106,864,413
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Bmp6 |
bone morphogenetic protein 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18688853 |
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NCBI chr17:26,955,142...27,112,820
Ensembl chr17:26,955,142...27,112,820
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Card11 |
caspase recruitment domain family, member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr12:15,700,600...15,844,512
Ensembl chr12:15,700,825...15,844,512
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Ccr4 |
C-C motif chemokine receptor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr 8:122,530,152...122,535,959
Ensembl chr 8:122,530,624...122,532,070
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Ccr7 |
C-C motif chemokine receptor 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr10:87,057,335...87,067,444
Ensembl chr10:87,057,136...87,067,456
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Cd163 |
CD163 molecule |
disease_progression |
ISO |
protein:increased expression:lymph node tumor (human) |
RGD |
PMID:23557330 |
RGD:42721976 |
NCBI chr 4:156,752,063...156,785,467
Ensembl chr 4:156,752,082...156,785,467
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Cd274 |
CD274 molecule |
disease_progression |
ISO |
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RGD |
PMID:27418641 |
RGD:41412177 |
NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
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Cd28 |
Cd28 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
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Cd68 |
Cd68 molecule |
disease_progression |
ISO |
protein:increased expression:lymph node tumor (human) |
RGD |
PMID:23557330 |
RGD:42721976 |
NCBI chr10:56,268,726...56,270,605
Ensembl chr10:56,268,720...56,270,640
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Cd80 |
Cd80 molecule |
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IMP |
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RGD |
PMID:10590132 |
RGD:6902938 |
NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
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Cd86 |
CD86 molecule |
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IMP |
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RGD |
PMID:10590132 |
RGD:6902938 |
NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
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Csnk1a1 |
casein kinase 1, alpha 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr18:56,887,722...56,910,610
Ensembl chr18:56,887,354...56,918,345
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Csnk2a1 |
casein kinase 2 alpha 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr 3:147,713,808...147,760,375
Ensembl chr 3:147,713,821...147,757,862
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Csnk2b |
casein kinase 2 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr20:5,108,692...5,113,675
Ensembl chr20:5,106,890...5,113,112
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Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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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 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Foxp3 |
forkhead box P3 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23962110, PMID:23797717 |
RGD:38456007 |
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
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Fyn |
FYN proto-oncogene, Src family tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr20:44,436,354...44,630,316
Ensembl chr20:44,436,403...44,630,317
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Gata3 |
GATA binding protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
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Gpr183 |
G protein-coupled receptor 183 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr15:108,364,701...108,376,221
Ensembl chr15:108,364,701...108,376,221
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Hnrnpa2b1 |
heterogeneous nuclear ribonucleoprotein A2/B1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr 4:81,237,496...81,241,281
Ensembl chr 4:81,237,496...81,241,282
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Icos |
inducible T-cell co-stimulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr 9:67,748,157...67,786,808
Ensembl chr 9:67,763,897...67,785,580
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Ifng |
interferon gamma |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23962110, PMID:8800741 |
RGD:10755707 |
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Ikzf2 |
IKAROS family zinc finger 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr 9:76,621,230...76,771,017
Ensembl chr 9:76,621,230...76,768,806
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Il10 |
interleukin 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23962110, PMID:8704212 |
RGD:11049460 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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Il2 |
interleukin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23962110 |
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NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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Il4 |
interleukin 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23962110 |
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NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Il5 |
interleukin 5 |
disease_progression |
ISO |
protein:increased expression:serum |
RGD |
PMID:16425276 |
RGD:11354942 |
NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
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Il6 |
interleukin 6 |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:10374863 |
RGD:11060275 |
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Irf4 |
interferon regulatory factor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr17:34,886,746...34,905,191
Ensembl chr17:34,886,739...34,905,117
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Jak3 |
Janus kinase 3 |
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ISO |
DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) |
RGD |
PMID:21821710 |
RGD:11531131 |
NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
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Myb |
MYB proto-oncogene, transcription factor |
disease_progression |
ISO |
mRNA:splice variants:CD4+ T cell: |
RGD |
PMID:27307595 |
RGD:11532670 |
NCBI chr 1:16,658,178...16,690,135
Ensembl chr 1:16,659,442...16,687,817
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Notch1 |
notch receptor 1 |
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ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:16707600 |
RGD:1580759 |
NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
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Nras |
NRAS proto-oncogene, GTPase |
disease_progression |
ISO |
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RGD |
PMID:21586752 |
RGD:11535055 |
NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
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G |
Plcg1 |
phospholipase C, gamma 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 3:156,727,642...156,758,307
Ensembl chr 3:156,727,642...156,758,307
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|
G |
Prkcb |
protein kinase C, beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 1:192,233,569...192,575,339
Ensembl chr 1:192,233,910...192,574,831
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|
G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24090995 |
|
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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|
G |
Tal2 |
TAL bHLH transcription factor 2 |
|
ISO |
|
RGD |
PMID:1763056 |
RGD:1599285 |
NCBI chr 5:70,592,871...70,599,428
Ensembl chr 5:70,592,871...70,599,428
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|
G |
Terf2 |
telomeric repeat binding factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17643074 |
|
NCBI chr19:39,271,992...39,301,506
Ensembl chr19:39,272,499...39,300,893
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|
G |
Tlx1 |
T-cell leukemia, homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1717256, PMID:1683261 |
RGD:1599439 |
NCBI chr 1:264,893,033...264,899,424
Ensembl chr 1:264,893,162...264,899,423
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|
G |
Tnfsf8 |
TNF superfamily member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9058727 |
|
NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
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G |
Tp53 |
tumor protein p53 |
|
ISO |
|
GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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|
G |
Tp73 |
tumor protein p73 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 5:171,355,876...171,415,354
Ensembl chr 5:171,355,876...171,415,354
|
|
G |
Vav1 |
vav guanine nucleotide exchange factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 9:9,617,551...9,675,167
Ensembl chr 9:9,617,786...9,675,110
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|
|
G |
Adrb2 |
adrenoceptor beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27400929 |
|
NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
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|
G |
Epo |
erythropoietin |
treatment |
ISO |
|
RGD |
PMID:20818790 |
RGD:10395393 |
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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|
G |
Gc |
GC, vitamin D binding protein |
|
ISO |
associated with HIV Infections;protein:increased expression:cerebrospinal fluid: |
RGD |
PMID:17929958 |
RGD:5509882 |
NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
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|
G |
Il1b |
interleukin 1 beta |
|
IEP |
protein:increased expression:neocortex |
RGD |
PMID:17678975 |
RGD:1626641 |
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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|
G |
Insr |
insulin receptor |
severity |
ISO |
protein:increased expression:cerebrospinal fluid, plasma |
RGD |
PMID:22629383 |
RGD:10403033 |
NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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|
G |
Irs1 |
insulin receptor substrate 1 |
severity |
ISO |
protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte |
RGD |
PMID:22629383 |
RGD:10403033 |
NCBI chr 9:88,033,668...88,086,488
Ensembl chr 9:88,033,668...88,086,488
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|
G |
Npy |
neuropeptide Y |
severity |
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:8815163 |
RGD:10431910 |
NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
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|
G |
Oprm1 |
opioid receptor, mu 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27400929 |
|
NCBI chr 1:43,454,803...43,704,948
Ensembl chr 1:43,454,803...43,704,948
|
|
G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO |
|
RGD |
PMID:21368226 |
RGD:6482787 |
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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|
G |
Slc6a4 |
solute carrier family 6 member 4 |
|
ISO |
|
RGD |
PMID:25404050 |
RGD:38676266 |
NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
|
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|
G |
Agtr1a |
angiotensin II receptor, type 1a |
|
ISO |
|
RGD |
PMID:2 |
RGD:1303381 |
NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
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|
G |
Agtr2 |
angiotensin II receptor, type 2 |
|
ISO |
|
RGD |
PMID:2 |
RGD:1303381 |
NCBI chr X:119,389,480...119,393,845
Ensembl chr X:119,390,013...119,393,842
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G |
Egf |
epidermal growth factor |
|
ISO |
|
RGD |
PMID:19357719 |
RGD:6906909 |
NCBI chr 2:68,820,616...68,895,537
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G |
Hp |
haptoglobin |
|
ISO |
protein:increased expression:urine |
RGD |
PMID:19279121 |
RGD:11041816 |
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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G |
Mtor |
mechanistic target of rapamycin kinase |
|
ISO |
|
RGD |
PMID:23678040, PMID:23678040 |
RGD:7245474, RGD:7245474 |
NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
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G |
Myh9 |
myosin, heavy chain 9 |
|
ISO |
protein:decreased expression:glomerulus |
RGD |
PMID:22313957 |
RGD:6903274 |
NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
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G |
Notch4 |
notch receptor 4 |
|
IEP |
protein: increased expression: kidney |
RGD |
PMID:20706108 |
RGD:6480788 |
NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
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|
G |
Nphs1 |
NPHS1 adhesion molecule, nephrin |
treatment |
ISO |
|
RGD |
PMID:19188342, PMID:17229913 |
RGD:38596324, RGD:38599164 |
NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559
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|
|
G |
Klrk1 |
killer cell lectin like receptor K1 |
treatment |
ISO |
|
RGD |
PMID:23018378 |
RGD:39018554 |
NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
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|
G |
Bcl2 |
BCL2, apoptosis regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10861090 |
|
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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G |
Cd4 |
Cd4 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9546790 |
|
NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
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|
G |
Tnfrsf8 |
TNF receptor superfamily member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9379333 |
|
NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
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|
G |
Ccl17 |
C-C motif chemokine ligand 17 |
|
ISO |
associated with Cystic Fibrosis |
RGD |
PMID:17898016 |
RGD:4145612 |
NCBI chr19:10,619,220...10,620,671
Ensembl chr19:10,619,220...10,620,671
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G |
Ccr1 |
C-C motif chemokine receptor 1 |
|
ISO |
|
RGD |
PMID:15951834 |
RGD:5688155 |
NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
|
RGD |
PMID:10946288 |
RGD:8661731 |
|
|
G |
Cftr |
CF transmembrane conductance regulator |
|
ISO |
DNA:mutations: : |
RGD |
PMID:11243954 |
RGD:4140482 |
NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
|
RGD |
PMID:7743671 |
RGD:8547590 |
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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G |
Il1a |
interleukin 1 alpha |
|
ISO |
|
RGD |
PMID:8699818 |
RGD:7794730 |
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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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 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
associated with cystic fibrosis; DNA:polymorphisms: : |
RGD |
PMID:23278646 |
RGD:36049760 |
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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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 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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G |
Tnf |
tumor necrosis factor |
|
ISO |
|
RGD |
PMID:8699818 |
RGD:7794730 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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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 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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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 ClinVar Annotator: match by null ClinVar Annotator: match by OMIM:609889 |
OMIM ClinVar |
PMID:9630231 PMID:11121059 PMID:11133745 PMID:11313270 PMID:16276422 PMID:17890453 PMID:18592361 PMID:19246248 PMID:24144642 PMID:24290284 PMID:25741868 PMID:25976673 PMID:28492532 PMID:28769923 PMID:30307608 |
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NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
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G |
Cd274 |
CD274 molecule |
treatment |
ISO |
|
RGD |
PMID:30315719 |
RGD:41410787 |
NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
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G |
RT1-Bb |
RT1 class II, locus Bb |
disease_progression |
ISO |
DNA:polymorphism: :HLA-DQB1*02(human) |
RGD |
PMID:9756400 |
RGD:36174003 |
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
|
ISO |
DNA:polymorphisms: :HLA-DRB1*03, DRB1*11(human) |
RGD |
PMID:9756400 |
RGD:36174003 |
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
mRNA:increased expression:PBMC |
RGD |
PMID:30141853 |
RGD:15090814 |
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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G |
Il2 |
interleukin 2 |
treatment |
ISO |
|
RGD |
PMID:10862314 |
RGD:14928216 |
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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G |
Il23a |
interleukin 23 subunit alpha |
|
ISO |
mRNA:increased expression:liver (mouse) |
RGD |
PMID:26809113 |
RGD:39458041 |
NCBI chr 7:2,710,609...2,712,723
Ensembl chr 7:2,710,609...2,712,723
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G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
DNA:polymorphism, haplotype: :HLA-DQB1*04, HLA-DQB1*02 |
RGD |
PMID:25938667 |
RGD:36049810 |
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphism, haplotype: :HLA-DRB1*08 |
RGD |
PMID:25938667 |
RGD:36049810 |
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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G |
Tnf |
tumor necrosis factor |
treatment |
ISO |
|
RGD |
PMID:10862314 |
RGD:14928216 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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G |
Il25 |
interleukin 25 |
|
ISO |
protein:decreased expression:intestine |
RGD |
PMID:28246365 |
RGD:39128243 |
NCBI chr15:33,594,852...33,599,692
Ensembl chr15:33,596,301...33,599,685
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G |
Il1rl1 |
interleukin 1 receptor-like 1 |
treatment |
ISO |
mRNA:increased expression:brain: |
RGD |
PMID:24657070, PMID:23148283 |
RGD:11561855, RGD:40400713 |
NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
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G |
Il33 |
interleukin 33 |
|
ISO |
protein:increased expression:brain: |
RGD |
PMID:23148283, PMID:24076431 |
RGD:40400713, RGD:40400715 |
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
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G |
Il5 |
interleukin 5 |
|
ISO |
|
RGD |
PMID:8361777 |
RGD:11354948 |
NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
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G |
Mag |
myelin-associated glycoprotein |
disease_progression |
ISO |
|
RGD |
PMID:20399564 |
RGD:27226693 |
NCBI chr 1:89,345,325...89,360,905
Ensembl chr 1:89,345,429...89,360,733
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G |
Mbp |
myelin basic protein |
disease_progression |
ISO |
|
RGD |
PMID:20399564 |
RGD:27226693 |
NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
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G |
Mobp |
myelin-associated oligodendrocyte basic protein |
disease_progression |
ISO |
|
RGD |
PMID:20399564 |
RGD:27226693 |
NCBI chr 8:128,824,420...128,854,492
Ensembl chr 8:128,824,508...128,850,358
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G |
Cd40 |
CD40 molecule |
|
ISO |
protein:increased expression:plasmacytoid dendritic cell |
RGD |
PMID:20702728 |
RGD:5490530 |
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
IEP |
mRNA, protein:increased expression:blood vessel endothelial cell |
RGD |
PMID:15710456 |
RGD:2307183 |
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
|
RGD |
PMID:19741601 |
RGD:8661685 |
|
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G |
Cd209 |
CD209 molecule |
treatment |
ISO |
|
RGD |
PMID:32391004 |
RGD:39939012 |
NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
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G |
Foxp3 |
forkhead box P3 |
|
ISO |
mRNA:decreased expression:placenta: |
RGD |
PMID:21923716 |
RGD:38501105 |
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
|
ISO |
|
RGD |
PMID:8881756 |
RGD:12910478 |
NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
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G |
Ido1 |
indoleamine 2,3-dioxygenase 1 |
|
ISO |
|
RGD |
PMID:31231617 |
RGD:39939039 |
NCBI chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
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G |
Il17a |
interleukin 17A |
|
ISO |
mRNA,protein:increased expression:placenta: |
RGD |
PMID:21923716 |
RGD:38501105 |
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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G |
Il23a |
interleukin 23 subunit alpha |
|
ISO |
|
RGD |
PMID:15265921 |
RGD:39457943 |
NCBI chr 7:2,710,609...2,712,723
Ensembl chr 7:2,710,609...2,712,723
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|
G |
Il6 |
interleukin 6 |
|
ISO |
mRNA:increased expression:placenta: |
RGD |
PMID:21923716 |
RGD:38501105 |
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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G |
Ldlr |
low density lipoprotein receptor |
|
ISO |
|
RGD |
PMID:18316222 |
RGD:5490254 |
NCBI chr 8:22,750,425...22,773,305
Ensembl chr 8:22,750,336...22,774,903
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|
G |
Rorc |
RAR-related orphan receptor C |
|
ISO |
mRNA:increased expression:placenta: |
RGD |
PMID:21923716 |
RGD:38501105 |
NCBI chr 2:195,612,471...195,636,797
Ensembl chr 2:195,617,021...195,637,630
|
|
G |
Sting1 |
stimulator of interferon response cGAMP interactor 1 |
severity |
ISO |
|
RGD |
PMID:31416833 |
RGD:39128220 |
NCBI chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
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G |
Cd40 |
CD40 molecule |
severity |
ISO |
|
RGD |
PMID:21360722 |
RGD:5490303 |
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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|
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 chr13:71,188,712...71,202,636
Ensembl chr13:71,192,142...71,202,625
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|
G |
Ccl20 |
C-C motif chemokine ligand 20 |
|
ISO |
protein:decreased expression:skin |
RGD |
PMID:17545018 |
RGD:7483603 |
NCBI chr 9:88,918,359...88,921,017
Ensembl chr 9:88,918,433...88,921,001
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|
G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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G |
Foxp3 |
forkhead box P3 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
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G |
Ifna1 |
interferon, alpha 1 |
treatment |
ISO |
|
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr 5:106,951,822...106,952,908
Ensembl chr 5:106,952,082...106,952,792
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G |
Il10 |
interleukin 10 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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G |
Il12b |
interleukin 12B |
treatment |
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:16114559, PMID:23754510 |
RGD:7829774, RGD:40400714 |
NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
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G |
Il2 |
interleukin 2 |
|
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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G |
Il4 |
interleukin 4 |
treatment |
ISO |
protein:increased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:16114559, PMID:23754510 |
RGD:7829774, RGD:40400714 |
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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G |
Il6 |
interleukin 6 |
|
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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G |
Klrk1 |
killer cell lectin like receptor K1 |
|
ISO |
mRNA,protein:decreased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
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G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
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G |
Ncr1 |
natural cytotoxicity triggering receptor 1 |
|
ISO |
mRNA,protein:decreased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
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G |
Pdcd1 |
programmed cell death 1 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845 Ensembl chr 9:101,307,764...101,319,845
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
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G |
Ptpn6 |
protein tyrosine phosphatase, non-receptor type 6 |
|
ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
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G |
Serpinf1 |
serpin family F member 1 |
disease_progression |
ISO |
mRNA, protein:decreased expression:skin of body (human) |
RGD |
PMID:23569025 |
RGD:27226706 |
NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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G |
Tlr3 |
toll-like receptor 3 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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G |
Tlr7 |
toll-like receptor 7 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:28,486,836...28,513,004
Ensembl chr X:28,486,869...28,512,957
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G |
Tlr8 |
toll-like receptor 8 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:28,539,158...28,562,803
Ensembl chr X:28,539,158...28,562,803
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G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:increased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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G |
Tnfrsf18 |
TNF receptor superfamily member 18 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140
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G |
Antxr2 |
ANTXR cell adhesion molecule 2 |
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IDA |
|
RGD |
PMID:17054395 |
RGD:1599126 |
NCBI chr14:13,191,716...13,331,286
Ensembl chr14:13,192,347...13,274,978
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G |
Elane |
elastase, neutrophil expressed |
|
ISO |
protein:increased expression:plasma: |
RGD |
PMID:19049643 |
RGD:10450550 |
NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
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G |
Il1b |
interleukin 1 beta |
disease_progression |
ISO |
mRNA:decreased expression:multiple (mouse) |
RGD |
PMID:19075243 |
RGD:40902812 |
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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G |
Rnasel |
ribonuclease L |
severity |
ISO |
|
RGD |
PMID:19075243 |
RGD:40902812 |
NCBI chr13:71,188,712...71,202,636
Ensembl chr13:71,192,142...71,202,625
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G |
Tnf |
tumor necrosis factor |
disease_progression |
ISO |
protein:decreased expression:multiple (mouse) |
RGD |
PMID:19075243 |
RGD:40902812 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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G |
F2 |
coagulation factor II |
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ISO |
|
RGD |
PMID:21663567 |
RGD:5147751 |
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16367942 |
|
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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G |
Il10 |
interleukin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16367942 |
|
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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G |
Plau |
plasminogen activator, urokinase |
|
ISO |
protein:increased expression:appendix |
RGD |
PMID:19153874 |
RGD:6483822 |
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
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G |
Ret |
ret proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Appendicitis |
ClinVar |
PMID:16384843 PMID:25741868 PMID:28492532 |
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NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
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G |
Stat2 |
signal transducer and activator of transcription 2 |
ameliorates |
ISO |
|
RGD |
PMID:15723812 |
RGD:41789630 |
NCBI chr 7:2,691,064...2,707,530
Ensembl chr 7:2,691,369...2,707,741
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G |
Tfrc |
transferrin receptor |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17287727 |
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NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
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G |
Alb |
albumin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:5108595 PMID:5109917 PMID:5536438 |
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NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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G |
Il6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10888991 |
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NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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G |
Ager |
advanced glycosylation end product-specific receptor |
|
ISO |
DNA:SNP:promoter:-374T>A (human) |
RGD |
PMID:22114731 |
RGD:8695981 |
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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G |
Ccl19 |
C-C motif chemokine ligand 19 |
|
ISO |
associated with Neutropenia;mRNA:increased expression:lung |
RGD |
PMID:19783686 |
RGD:5130908 |
NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
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G |
Ccr7 |
C-C motif chemokine receptor 7 |
|
ISO |
associated with Neutropenia |
RGD |
PMID:19783686 |
RGD:5130908 |
NCBI chr10:87,057,335...87,067,444
Ensembl chr10:87,057,136...87,067,456
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G |
Cd209 |
CD209 molecule |
|
ISO |
|
RGD |
PMID:21381282 |
RGD:5131183 |
NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
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G |
Cftr |
CF transmembrane conductance regulator |
severity |
ISO |
|
RGD |
PMID:22135344 |
RGD:35673332 |
NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
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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 |
ClinVar CTD OMIM |
PMID:29489751 |
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NCBI chr 4:163,191,503...163,214,678
Ensembl chr 4:163,191,503...163,214,678
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G |
Clec7a |
C-type lectin domain containing 7A |
susceptibility |
ISO |
ClinVar Annotator: match by term: Aspergillosis, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:19864674 PMID:20807886 PMID:24033266 |
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NCBI chr 4:163,216,152...163,227,367
Ensembl chr 4:163,216,163...163,227,334
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G |
Crp |
C-reactive protein |
treatment |
ISO |
|
RGD |
PMID:20879853 |
RGD:9495929 |
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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G |
Il15 |
interleukin 15 |
|
ISO |
DNA:polymorphism (human) |
RGD |
PMID:16893395 |
RGD:4981337 |
NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
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G |
Mbl1 |
mannose binding lectin 1 |
susceptibility |
ISO |
|
RGD |
PMID:20064561 |
RGD:8694071 |
NCBI chr16:18,736,154...18,742,193
Ensembl chr16:18,736,154...18,742,193
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G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
|
RGD |
PMID:20064561 |
RGD:8694071 |
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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G |
S100b |
S100 calcium binding protein B |
|
ISO |
DNA:SNP: :427C>T (human) |
RGD |
PMID:22114731 |
RGD:8695981 |
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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G |
Tlr1 |
toll-like receptor 1 |
susceptibility |
ISO |
DNA:SNPs: :p.R80T, p.N248S (human) |
RGD |
PMID:16461792 |
RGD:4889535 |
NCBI chr14:45,062,662...45,065,014
Ensembl chr14:45,062,662...45,081,991
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G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:19781388 |
RGD:4145322 |
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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G |
Tlr6 |
toll-like receptor 6 |
susceptibility |
ISO |
DNA:SNP: :p.S249P (human) |
RGD |
PMID:16461792 |
RGD:4889535 |
NCBI chr14:45,024,351...45,041,188
Ensembl chr14:45,024,351...45,046,446
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G |
Ace |
angiotensin I converting enzyme |
|
ISO |
associated with Cerebrovascular Accident |
RGD |
PMID:14990394 |
RGD:4140926 |
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
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IEP |
|
RGD |
PMID:19515386 |
RGD:4891456 |
NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
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G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
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IEP |
|
RGD |
PMID:19515386 |
RGD:4891456 |
NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
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G |
Edn1 |
endothelin 1 |
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IEP |
protein:increased secretion:plasma (rat) |
RGD |
PMID:19262391 |
RGD:4145069 |
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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G |
Il1a |
interleukin 1 alpha |
|
IEP |
protein:increased expression:Bronchoalveolar Lavage Fluid |
RGD |
PMID:18042282 |
RGD:4142854 |
NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15607125 |
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NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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G |
Tnf |
tumor necrosis factor |
|
IEP |
protein:increased expression:Bronchoalveolar Lavage Fluid |
RGD |
PMID:18042282 |
RGD:4142854 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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G |
Ace2 |
angiotensin I converting enzyme 2 |
severity treatment |
ISO |
human protein in a mouse model |
RGD |
PMID:24800825, PMID:24800825 |
RGD:32716391, RGD:32716391 |
NCBI chr X:32,050,734...32,095,860
Ensembl chr X:32,049,931...32,096,016
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G |
Mx2 |
MX dynamin like GTPase 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:178595 |
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NCBI chr11:38,035,306...38,066,185
Ensembl chr11:38,035,450...38,059,950
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
|
RGD |
PMID:18613795 |
RGD:5135502 |
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
|
ISO |
protein:decreased expression:serum (human) |
RGD |
PMID:25539588 |
RGD:11541121 |
NCBI chr10:94,850,971...94,913,202
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO |
associated with Febrile Neutropenia;protein:increased expression:serum (human) |
RGD |
PMID:22584776 |
RGD:11528568 |
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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G |
Cebpb |
CCAAT/enhancer binding protein beta |
|
ISO |
associated with alcohol use disorder;mRNA:increased expression:bone marrow (mouse) |
RGD |
PMID:28784931 |
RGD:40903040 |
NCBI chr 3:164,424,502...164,425,933
Ensembl chr 3:164,424,515...164,425,910
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G |
Cfh |
complement factor H |
|
ISO |
associated with Meningococcal Infections; |
RGD |
PMID:22104107 |
RGD:7364945 |
NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
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G |
Cish |
cytokine inducible SH2-containing protein |
susceptibility |
ISO |
ClinVar Annotator: match by OMIM:614383 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:20484391 |
|
NCBI chr 8:116,054,547...116,059,494
Ensembl chr 8:116,054,465...116,060,723
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G |
Cpb2 |
carboxypeptidase B2 |
|
IEP |
protein:decreased activity:plasma |
RGD |
PMID:17911187 |
RGD:2313646 |
NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
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G |
Crp |
C-reactive protein |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:18443549 |
RGD:9491402 |
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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G |
Csf2 |
colony stimulating factor 2 |
treatment |
ISO |
|
RGD |
PMID:2192004 |
RGD:10449532 |
NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
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G |
Fcgr2a |
Fc fragment of IgG receptor IIa |
|
ISO |
associated with Pneumonia;DNA:SNP: :p.H131R (rs1801274) (human) |
RGD |
PMID:21317643 |
RGD:5147986 |
NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
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G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
severity |
ISO |
|
RGD |
PMID:11565076 |
RGD:5508478 |
NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
mRNA:increased expression:lung,thymus,spleen: |
RGD |
PMID:24891762 |
RGD:11354979 |
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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G |
Il17a |
interleukin 17A |
|
ISO |
associated with Respiratory Distress Syndrome, Adult; protein:increased expression:serum |
RGD |
PMID:21062445 |
RGD:5128683 |
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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G |
Itih4 |
inter-alpha-trypsin inhibitor heavy chain 4 |
|
ISO |
protein:increased expression:liver, serum |
RGD |
PMID:33348064 |
RGD:40907057 |
NCBI chr16:6,970,367...6,985,538
Ensembl chr16:6,970,342...6,985,579
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G |
Mapkapk3 |
MAPK activated protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2 |
ClinVar |
PMID:20484391 |
|
NCBI chr 8:116,012,126...116,046,012
Ensembl chr 8:116,012,121...116,045,954
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G |
Mbl2 |
mannose binding lectin 2 |
treatment |
ISO |
associated with Multiple Myeloma:DNA:polymorphism:exon: |
RGD |
PMID:16953214 |
RGD:11530047 |
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
severity |
ISO |
associated with Staphylococcal Infections; |
RGD |
PMID:24086711 |
RGD:13204726 |
NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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G |
Plat |
plasminogen activator, tissue type |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:1430592 |
|
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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G |
Plaur |
plasminogen activator, urokinase receptor |
severity |
ISO |
|
RGD |
PMID:21332843 |
RGD:6483799 |
NCBI chr 1:81,328,171...81,344,954
Ensembl chr 1:81,328,183...81,344,708
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G |
Serpinc1 |
serpin family C member 1 |
treatment |
ISO |
|
RGD |
PMID:2679067 |
RGD:11035251 |
NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
mRNA:increased expression:liver: |
RGD |
PMID:24253037 |
RGD:26923958 |
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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G |
Tirap |
TIR domain containing adaptor protein |
|
ISO |
ClinVar Annotator: match by term: BACTEREMIA, RESISTANCE TO CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:16991088 PMID:17322885 PMID:18305471 |
|
NCBI chr 8:36,382,029...36,399,625
Ensembl chr 8:36,385,353...36,388,224
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G |
Tlr4 |
toll-like receptor 4 |
susceptibility |
ISO |
DNA:polymorphisms:cds:p.D299G, T399I (human) |
RGD |
PMID:18180796 |
RGD:4144194 |
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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G |
Muc1 |
mucin 1, cell surface associated |
|
ISO |
|
RGD |
PMID:10359313 |
RGD:7349379 |
NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
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G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23661603 |
|
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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G |
Irak4 |
interleukin-1 receptor-associated kinase 4 |
susceptibility |
ISO |
deficiency of IRAK4/extracellular pyogenic bacterial and fungal infections, OMIM:607676 |
RGD |
PMID:12637671 |
RGD:1600199 |
NCBI chr 7:135,803,723...135,831,006
Ensembl chr 7:135,803,698...135,832,652
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G |
Casp3 |
caspase 3 |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent |
RGD |
PMID:16443785 |
RGD:2311430 |
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
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G |
Casp8 |
caspase 8 |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent |
RGD |
PMID:16443785 |
RGD:2311430 |
NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
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G |
Casp9 |
caspase 9 |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent |
RGD |
PMID:16443785 |
RGD:2311430 |
NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
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G |
Crp |
C-reactive protein |
|
ISO |
|
RGD |
PMID:23937512 |
RGD:9495911 |
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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G |
Dock8 |
dedicator of cytokinesis 8 |
susceptibility |
ISO |
DNA:mutations: : |
RGD |
PMID:25724123 |
RGD:40886274 |
NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465
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G |
Il10 |
interleukin 10 |
|
ISO |
associated with Otitis Media |
RGD |
PMID:22668804 |
RGD:7364828 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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G |
Il2 |
interleukin 2 |
|
ISO |
associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood |
RGD |
PMID:21574159 |
RGD:5147907 |
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism:exon: |
RGD |
PMID:24453114 |
RGD:11530056 |
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
|
ISO |
associated with Virus Diseases |
RGD |
PMID:21669398 |
RGD:5508748 |
NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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G |
RT1-Bb |
RT1 class II, locus Bb |
onset |
ISO |
associated with Cystic Fibrosis;DNA:polymorphism (human) |
RGD |
PMID:16987934 |
RGD:5147635 |
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
onset |
ISO |
associated with Cystic Fibrosis;DNA:polymorphism (human) |
RGD |
PMID:16987934 |
RGD:5147635 |
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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G |
Sdc4 |
syndecan 4 |
|
IMP |
|
RGD |
PMID:15001228 |
RGD:2312325 |
NCBI chr 3:160,872,503...160,891,190
Ensembl chr 3:160,872,503...160,891,190
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G |
Tbce |
tubulin folding cofactor E |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12389028 |
|
NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
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G |
Il1r1 |
interleukin 1 receptor type 1 |
|
ISO |
associated with Serratia Infections; |
RGD |
PMID:23033384 |
RGD:8662876 |
NCBI chr 9:46,962,291...47,038,139
Ensembl chr 9:46,962,288...47,036,670
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G |
Ly96 |
lymphocyte antigen 96 |
|
ISO |
associated with Serratia Infections; |
RGD |
PMID:23033384 |
RGD:8662876 |
NCBI chr 5:1,972,212...1,989,448
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G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
|
ISO |
associated with Staphylococcal Infections; associated with Serratia Infections; |
RGD |
PMID:16926427, PMID:23033384 |
RGD:8552819, RGD:8662876 |
NCBI chr 8:128,022,512...128,027,462
Ensembl chr 8:128,022,473...128,026,841
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G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
associated with Staphylococcal Infections; associated with Pneumococcal Infections; |
RGD |
PMID:16926427, PMID:23841825 |
RGD:8552819, RGD:8552886 |
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
associated with Pneumococcal Infections; associated with Serratia Infections; |
RGD |
PMID:23841825, PMID:23033384 |
RGD:8552886, RGD:8662876 |
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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G |
Tlr5 |
toll-like receptor 5 |
|
ISO |
associated with Serratia Infections; |
RGD |
PMID:23033384 |
RGD:8662876 |
NCBI chr13:101,364,784...101,385,764
Ensembl chr13:101,381,510...101,385,764
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G |
Marco |
macrophage receptor with collagenous structure |
disease_progression |
ISO |
association with Cryptococcal neoformans infection. |
RGD |
PMID:28298522 |
RGD:41412191 |
NCBI chr16:85,115,199...85,147,683
Ensembl chr16:85,115,201...85,135,859
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G |
Ache |
acetylcholinesterase |
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ISO |
|
RGD |
PMID:21303225 |
RGD:5688130 |
NCBI chr12:22,472,358...22,477,052
Ensembl chr12:22,472,358...22,478,753
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G |
Bche |
butyrylcholinesterase |
|
ISO |
protein:increased expression:blood |
RGD |
PMID:21303225 |
RGD:5688130 |
NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
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G |
Bdnf |
brain-derived neurotrophic factor |
|
ISO IEP |
mRNA, protein:increased expression:hippocampus mRNA:decreased expression:hippocampus,cerebral cortex: |
RGD |
PMID:16141791, PMID:22683802 |
RGD:5684920, RGD:8655554 |
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
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G |
Cd46 |
CD46 molecule |
|
ISO |
|
RGD |
PMID:16948860 |
RGD:6483465 |
NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
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G |
Chi3l1 |
chitinase 3 like 1 |
severity |
ISO |
protein:increased secretion:cerebrospinal fluid (human) |
RGD |
PMID:11986266 |
RGD:4892662 |
NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
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G |
Crp |
C-reactive protein |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:6122844 |
RGD:9491388 |
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
|
RGD |
PMID:10430840 |
RGD:8547971 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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G |
Ngf |
nerve growth factor |
|
IEP |
mRNA:decreased expression:hippocampus: |
RGD |
PMID:22683802 |
RGD:8655554 |
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
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G |
Ntrk2 |
neurotrophic receptor tyrosine kinase 2 |
|
ISO |
mRNA, protein:increased expression:hippocampus |
RGD |
PMID:16141791 |
RGD:5684920 |
NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
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G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
susceptibility |
ISO |
DNA:snp:cds:p.V762A rs1136410 (human) |
RGD |
PMID:21651918 |
RGD:5683901 |
NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
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G |
S100b |
S100 calcium binding protein B |
|
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:15105355 |
RGD:5508818 |
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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G |
Abcc1 |
ATP binding cassette subfamily C member 1 |
|
ISO |
|
RGD |
PMID:11238654 |
RGD:5128828 |
NCBI chr10:549,537...672,235
Ensembl chr10:549,883...672,196
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G |
Ace2 |
angiotensin I converting enzyme 2 |
|
ISO |
associated with Pseudomonas Infections;mRNA, protein:altered expression, altered activity:lung (mouse) |
RGD |
PMID:31645418 |
RGD:40818279 |
NCBI chr X:32,050,734...32,095,860
Ensembl chr X:32,049,931...32,096,016
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G |
Ager |
advanced glycosylation end product-specific receptor |
severity |
ISO |
|
RGD |
PMID:21629785 |
RGD:6767559 |
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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G |
C3 |
complement C3 |
|
ISO |
|
RGD |
PMID:16014897 |
RGD:5129508 |
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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G |
C3ar1 |
complement C3a receptor 1 |
|
ISO |
|
RGD |
PMID:16461429 |
RGD:5129690 |
NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
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G |
C5 |
complement C5 |
|
ISO |
|
RGD |
PMID:17975174 |
RGD:5129707 |
NCBI chr 3:14,049,993...14,113,931 NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
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G |
Cat |
catalase |
|
IDA |
protein:decreased expression:lung, plasma |
RGD |
PMID:19842849 |
RGD:5130748 |
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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G |
Ccl19 |
C-C motif chemokine ligand 19 |
|
ISO |
mRNA, protein:increased expression:lung |
RGD |
PMID:20176793 |
RGD:5130918 |
NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
|
RGD |
PMID:20042590 |
RGD:4891443 |
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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G |
Ccl4 |
C-C motif chemokine ligand 4 |
|
ISO |
|
RGD |
PMID:20483921 |
RGD:5130905 |
NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
|
RGD |
PMID:20042590 |
RGD:4891443 |
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G |
Ccr7 |
C-C motif chemokine receptor 7 |
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ISO |
|
RGD |
PMID:20176793 |
RGD:5130918 |
NCBI chr10:87,057,335...87,067,444
Ensembl chr10:87,057,136...87,067,456
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G |
Cd14 |
CD14 molecule |
|
ISO |
|
RGD |
PMID:16210672 |
RGD:4144197 |
NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
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G |
Cd40 |
CD40 molecule |
|
ISO |
|
RGD |
PMID:20102413 |
RGD:5132268 |
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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G |
Cd80 |
Cd80 molecule |
|
ISO |
|
RGD |
PMID:20949109 |
RGD:4892562 |
NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
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G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
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ISO |
|
RGD |
PMID:18643924 |
RGD:5133701 |
NCBI chr 1:263,848,829...263,884,354
Ensembl chr 1:263,848,884...263,885,169
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G |
Csf3 |
colony stimulating factor 3 |
disease_progression treatment |
ISO |
associated with Peritonitis; |
RGD |
PMID:21373266, PMID:12352049 |
RGD:5133733, RGD:11039437 |
NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
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G |
Csf3r |
colony stimulating factor 3 receptor |
disease_progression |
ISO |
|
RGD |
PMID:17185469 |
RGD:5133739 |
NCBI chr 5:144,031,353...144,051,966
Ensembl chr 5:144,031,402...144,051,600
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G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
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ISO IEP |
|
RGD |
PMID:21723409, PMID:11052817 |
RGD:5135062, RGD:5135234 |
NCBI chr14:18,743,678...18,745,457
Ensembl chr14:18,743,685...18,745,457
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
severity |
ISO |
|
RGD |
PMID:16299319, PMID:15618188 |
RGD:5135458, RGD:5135459 |
NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
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G |
Cxcl11 |
C-X-C motif chemokine ligand 11 |
|
ISO |
|
RGD |
PMID:15618188 |
RGD:5135459 |
NCBI chr14:17,195,395...17,198,170
Ensembl chr14:17,195,014...17,198,291
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G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
severity |
ISO IEP |
|
RGD |
PMID:19239431, PMID:11052817, PMID:21723409 |
RGD:5135065, RGD:5135234, RGD:5135062 |
NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
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G |
Cxcl3 |
C-X-C motif chemokine ligand 3 |
|
IEP |
|
RGD |
PMID:11052817 |
RGD:5135234 |
NCBI chr14:18,820,168...18,839,659
Ensembl chr14:18,820,168...18,839,595
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G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
|
ISO |
|
RGD |
PMID:19846873 |
RGD:4145490 |
NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
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G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
|
ISO |
|
RGD |
PMID:15618188 |
RGD:5135459 |
NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
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|
G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
|
ISO |
|
RGD |
PMID:15618188 |
RGD:5135459 |
NCBI chr X:71,614,346...71,616,997
Ensembl chr X:71,614,346...71,616,997
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G |
Cyp2j4 |
cytochrome P450, family 2, subfamily j, polypeptide 4 |
|
IEP |
protein:decreased expression:lung |
RGD |
PMID:14766666 |
RGD:1625385 |
NCBI chr 5:119,546,458...119,564,843
Ensembl chr 5:119,546,461...119,564,846
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G |
Defb4 |
defensin beta 4 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:10213993 |
RGD:4892266 |
NCBI chr16:75,634,598...75,637,789
Ensembl chr16:75,634,598...75,637,789
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G |
F2 |
coagulation factor II |
|
IEP |
protein:increased expression:lung |
RGD |
PMID:21897338 |
RGD:6893486 |
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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G |
Fcgr2a |
Fc fragment of IgG receptor IIa |
|
ISO |
|
RGD |
PMID:17975174 |
RGD:5129707 |
NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036 Ensembl chr13:91,168,973...91,198,036
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G |
Foxp3 |
forkhead box P3 |
severity |
ISO |
|
RGD |
PMID:25398094 |
RGD:38501102 |
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
protein:increased expression:lung (mouse) |
RGD |
PMID:19846873 |
RGD:4145490 |
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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G |
Ifnar1 |
interferon alpha and beta receptor subunit 1 |
severity |
ISO |
|
RGD |
PMID:19487810, PMID:19487810 |
RGD:5490274, RGD:5490274 |
NCBI chr11:31,640,407...31,666,839
Ensembl chr11:31,640,407...31,664,061
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|
G |
Ifng |
interferon gamma |
severity |
ISO |
|
RGD |
PMID:25398094 |
RGD:38501102 |
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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G |
Il10 |
interleukin 10 |
severity |
ISO |
|
RGD |
PMID:25398094 |
RGD:38501102 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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G |
Il15 |
interleukin 15 |
|
ISO |
|
RGD |
PMID:17911627 |
RGD:5000754 |
NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
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G |
Il17a |
interleukin 17A |
severity |
ISO |
|
RGD |
PMID:18802100, PMID:25398094 |
RGD:4889153, RGD:38501102 |
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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G |
Il18 |
interleukin 18 |
|
ISO |
|
RGD |
PMID:17664259 |
RGD:4889913 |
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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|
G |
Il1b |
interleukin 1 beta |
severity treatment |
ISO |
associated with Agranulocytosis |
RGD |
PMID:18596024, PMID:25398094, PMID:7546648 |
RGD:4143205, RGD:38501102, RGD:10755357 |
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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|
G |
Il1rl1 |
interleukin 1 receptor-like 1 |
treatment |
ISO IEP |
associated with Sepsis associated with Acinetobacter infectious disease |
RGD |
PMID:20959556, PMID:29508184 |
RGD:5144223, RGD:40818077 |
NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
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G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
|
RGD |
PMID:18596024, PMID:18322242 |
RGD:4143205, RGD:4143206 |
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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G |
Il22 |
interleukin 22 |
|
ISO |
|
RGD |
PMID:21178015 |
RGD:5147404 |
NCBI chr 7:61,236,037...61,240,502
Ensembl chr 7:61,236,037...61,240,502
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|
G |
Il6 |
interleukin 6 |
severity |
ISO |
|
RGD |
PMID:25398094 |
RGD:38501102 |
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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G |
Irak3 |
interleukin-1 receptor-associated kinase 3 |
|
ISO |
|
RGD |
PMID:28120642, PMID:20439918 |
RGD:34888234, RGD:36049799 |
NCBI chr 7:64,922,830...64,982,224
Ensembl chr 7:64,923,615...64,982,281
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G |
Irf1 |
interferon regulatory factor 1 |
|
ISO |
|
RGD |
PMID:11854220 |
RGD:5128725 |
NCBI chr10:39,109,530...39,116,532
Ensembl chr10:39,109,522...39,116,531
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G |
Irf3 |
interferon regulatory factor 3 |
|
ISO |
|
RGD |
PMID:20720199 |
RGD:4891951 |
NCBI chr 1:100,992,244...100,997,202
Ensembl chr 1:100,992,405...100,997,198
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G |
Itgb3 |
integrin subunit beta 3 |
|
IEP |
protein:increased expression:lung, neutrophil |
RGD |
PMID:15114484 |
RGD:4993468 |
NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
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G |
Lep |
leptin |
|
ISO |
|
RGD |
PMID:11937559 |
RGD:5128871 |
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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|
G |
Mbl2 |
mannose binding lectin 2 |
|
ISO |
Legionella Pneumonia; DNA:mutations:5' utr, exon:multiple (human) |
RGD |
PMID:18641104 |
RGD:4889477 |
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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G |
Mc1r |
melanocortin 1 receptor |
|
ISO |
|
RGD |
PMID:18304533 |
RGD:5687324 |
NCBI chr19:56,215,420...56,219,987
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased expression:bronchoalveolar lavage fluid |
RGD |
PMID:17202364, PMID:19535150 |
RGD:5130727, RGD:5129533 |
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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G |
Mpo |
myeloperoxidase |
|
ISO |
protein:increased activity:bronchoalveolar lavage Fluid: |
RGD |
PMID:11269653 |
RGD:5130992 |
NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
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G |
Nod1 |
nucleotide-binding oligomerization domain containing 1 |
|
ISO |
|
RGD |
PMID:19360122 |
RGD:5131449 |
NCBI chr 4:85,123,965...85,175,206
Ensembl chr 4:85,123,960...85,174,951
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
|
ISO |
|
RGD |
PMID:19360122 |
RGD:5131449 |
NCBI chr19:19,342,061...19,389,366
Ensembl chr19:19,332,594...19,377,492
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G |
Pdpn |
podoplanin |
|
IEP |
protein:increased expression:lung |
RGD |
PMID:7864138 |
RGD:2292375 |
NCBI chr 5:161,947,137...161,981,441
Ensembl chr 5:161,947,137...161,981,441
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G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
|
IEP |
protein:decreased expression:lung |
RGD |
PMID:12524254 |
RGD:724645 |
NCBI chr10:94,850,971...94,913,202
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G |
Pgf |
placental growth factor |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:16702604 |
RGD:6483601 |
NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
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G |
Rorc |
RAR-related orphan receptor C |
severity |
ISO |
|
RGD |
PMID:25398094 |
RGD:38501102 |
NCBI chr 2:195,612,471...195,636,797
Ensembl chr 2:195,617,021...195,637,630
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G |
Serpine1 |
serpin family E member 1 |
severity |
ISO |
|
RGD |
PMID:17032919 |
RGD:4144840 |
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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G |
Sftpa1 |
surfactant protein A1 |
|
IEP |
protein:increased expression:lung |
RGD |
PMID:12169586 |
RGD:4143464 |
NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
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G |
Sftpb |
surfactant protein B |
|
ISO IEP |
associated with Cystic Fibrosis;protein:increased expression:lung |
RGD |
PMID:15271694, PMID:12169586 |
RGD:4143403, RGD:4143464 |
NCBI chr 4:100,166,855...100,175,941
Ensembl chr 4:100,166,863...100,175,938
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G |
Sftpc |
surfactant protein C |
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ISO IEP |
|
RGD |
PMID:18566429, PMID:12169586 |
RGD:4144114, RGD:4143464 |
NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
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G |
Sftpd |
surfactant protein D |
|
ISO IEP |
associated with Cystic Fibrosis;protein:decreased expression:lung protein:increased expression:lung |
RGD |
PMID:15271694, PMID:12169586 |
RGD:4143403, RGD:4143464 |
NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
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G |
Stat3 |
signal transducer and activator of transcription 3 |
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ISO |
|
RGD |
PMID:18192501 |
RGD:6892945 |
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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G |
Tgfb1 |
transforming growth factor, beta 1 |
severity |
ISO |
|
RGD |
PMID:25398094 |
RGD:38501102 |
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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G |
Tlr2 |
toll-like receptor 2 |
|
ISO IDA |
|
RGD |
PMID:18768871, PMID:19844782 |
RGD:4145337, RGD:4889533 |
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
|
RGD |
PMID:20650991, PMID:16210672 |
RGD:4144172, RGD:4144197 |
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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G |
Tlr5 |
toll-like receptor 5 |
|
ISO |
|
RGD |
PMID:19801452 |
RGD:5129503 |
NCBI chr13:101,364,784...101,385,764
Ensembl chr13:101,381,510...101,385,764
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G |
Tlr6 |
toll-like receptor 6 |
|
IDA |
|
RGD |
PMID:19844782 |
RGD:4889533 |
NCBI chr14:45,024,351...45,041,188
Ensembl chr14:45,024,351...45,046,446
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G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
|
RGD |
PMID:20360853 |
RGD:5130719 |
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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G |
Tnf |
tumor necrosis factor |
disease_progression treatment severity |
ISO |
associated with Agranulocytosis |
RGD |
PMID:10650487, PMID:7546648, PMID:9310939, PMID:12958055 |
RGD:4143476, RGD:10755357, RGD:10450564, RGD:10449451 |
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
ISO |
protein:increased expression:serum (mouse) |
RGD |
PMID:19842848 |
RGD:5131429 |
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
|
ISO |
protein:increased expression:serum (mouse) |
RGD |
PMID:19842848 |
RGD:5131429 |
NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
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G |
Zc3h12a |
zinc finger CCCH type containing 12A |
|
ISO |
associated with Pseudomonas Infections |
RGD |
PMID:29695841 |
RGD:39938967 |
NCBI chr 5:143,111,342...143,120,131
Ensembl chr 5:143,111,074...143,120,165
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G |
Mbl2 |
mannose binding lectin 2 |
|
ISO |
DNA:SNP:cds: |
RGD |
PMID:17470593 |
RGD:8693700 |
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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G |
Clec4m |
C-type lectin domain family 4 member M |
|
ISO |
associated with Escherichia Coli Infections |
RGD |
PMID:31998663 |
RGD:41410804 |
NCBI chr12:2,817,633...2,826,303
Ensembl chr12:2,816,065...2,826,378
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G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
|
ISO |
associated with Influenza |
RGD |
PMID:20065113 |
RGD:5134984 |
NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
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G |
Aldoc |
aldolase, fructose-bisphosphate C |
|
IEP |
mRNA, protein:decreased expression:cerebellum, Purkinje cell |
RGD |
PMID:17182680 |
RGD:2301132 |
NCBI chr10:65,586,504...65,590,093
Ensembl chr10:65,586,504...65,590,126
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G |
Atf4 |
activating transcription factor 4 |
|
IEP |
protein:increased expression:cerebellum |
RGD |
PMID:16912310 |
RGD:32733622 |
NCBI chr 7:121,480,723...121,482,781
Ensembl chr 7:121,480,723...121,482,772
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G |
Atf6 |
activating transcription factor 6 |
|
IEP |
protein:increased expression:cerebellum, hippocampus |
RGD |
PMID:16912310 |
RGD:32733622 |
NCBI chr13:89,053,457...89,242,531
Ensembl chr13:89,055,983...89,242,443
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G |
Cd44 |
CD44 molecule (Indian blood group) |
|
IEP |
|
RGD |
PMID:16612977 |
RGD:2289373 |
NCBI chr 3:92,695,083...92,783,820
Ensembl chr 3:92,696,313...92,783,658
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
IEP |
|
RGD |
PMID:12053272 |
RGD:4891998 |
NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
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G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
|
IEP |
mRNA:increased expression:brain |
RGD |
PMID:12053272 |
RGD:4891998 |
NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
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G |
Ddit3 |
DNA-damage inducible transcript 3 |
|
IEP |
mRNA,protein:increased expression:cerebellum, hippocampus |
RGD |
PMID:16912310 |
RGD:32733622 |
NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
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G |
Eif2a |
eukaryotic translation initiation factor 2A |
|
IEP |
protein:increased expression:cerebellum,hippocampus |
RGD |
PMID:16912310 |
RGD:32733622 |
NCBI chr 2:148,722,343...148,755,781
Ensembl chr 2:148,722,231...148,755,520
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G |
Gja1 |
gap junction protein, alpha 1 |
|
IEP |
|
RGD |
PMID:18538309 |
RGD:7364785 |
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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G |
Gjb6 |
gap junction protein, beta 6 |
|
IEP |
|
RGD |
PMID:18538309 |
RGD:7364785 |
NCBI chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
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G |
Il16 |
interleukin 16 |
|
IEP |
protein:increased expression:brain |
RGD |
PMID:14698845 |
RGD:1354526 |
NCBI chr 1:145,781,923...145,881,538
Ensembl chr 1:145,781,928...145,870,912
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G |
Mif |
macrophage migration inhibitory factor |
|
IEP |
protein:increased expression:astrocyte |
RGD |
PMID:11870869 |
RGD:1642006 |
NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
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G |
Mt3 |
metallothionein 3 |
|
IEP |
|
RGD |
PMID:16612977 |
RGD:2289373 |
NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
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G |
Parg |
poly (ADP-ribose) glycohydrolase |
|
IEP |
mRNA:decreased expression:hippocampus |
RGD |
PMID:18057239 |
RGD:2316738 |
NCBI chr16:8,350,168...8,457,999
Ensembl chr16:8,350,326...8,457,996
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G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
|
IEP |
mRNA,protein:increased expression,increased activity:neuron, glial cell: |
RGD |
PMID:18057239 |
RGD:2316738 |
NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
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G |
S100b |
S100 calcium binding protein B |
|
IEP |
protein:decreased expression:cerebellum, cerebral cortex |
RGD |
PMID:17376896 |
RGD:5508841 |
NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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G |
Slc6a4 |
solute carrier family 6 member 4 |
|
IEP |
protein:increased expression:brain (rat) |
RGD |
PMID:12106671 |
RGD:38549588 |
NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
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G |
Xbp1 |
X-box binding protein 1 |
|
IEP |
mRNA,protein:altered expression:cerebellum,hippocampus |
RGD |
PMID:16912310 |
RGD:32733622 |
NCBI chr14:85,753,736...85,758,820
Ensembl chr14:85,753,760...85,758,145
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G |
C3 |
complement C3 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:3361150 |
RGD:11041575 |
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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G |
Cfb |
complement factor B |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:3361150 |
RGD:11041575 |
NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066 Ensembl chr20:4,536,203...4,561,066
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
|
RGD |
PMID:14507644 |
RGD:5135450 |
NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
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|
G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
|
ISO |
|
RGD |
PMID:14507644 |
RGD:5135450 |
NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
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G |
Il23a |
interleukin 23 subunit alpha |
|
ISO |
|
RGD |
PMID:16923792 |
RGD:39457937 |
NCBI chr 7:2,710,609...2,712,723
Ensembl chr 7:2,710,609...2,712,723
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G |
Il4 |
interleukin 4 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17387165 |
|
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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|
|
G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
|
RGD |
PMID:16239543 |
RGD:8552881 |
NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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G |
Ifng |
interferon gamma |
treatment |
ISO |
|
RGD |
PMID:27916101 |
RGD:14974260 |
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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G |
Npc1 |
NPC intracellular cholesterol transporter 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12183525 |
|
NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683
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G |
Pde4a |
phosphodiesterase 4A |
|
IEP |
mRNA:decreased expression:spleen |
RGD |
PMID:17397885 |
RGD:2302429 |
NCBI chr 8:22,189,533...22,234,036
Ensembl chr 8:22,189,600...22,233,748
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G |
Prdx5 |
peroxiredoxin 5 |
|
ISO |
mRNA:increased expression:spleen (mouse) |
RGD |
PMID:31196623 |
RGD:41404681 |
NCBI chr 1:222,164,462...222,167,447
Ensembl chr 1:222,164,462...222,167,447
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G |
Sting1 |
stimulator of interferon response cGAMP interactor 1 |
|
ISO |
|
RGD |
PMID:29203515, PMID:30894428 |
RGD:39128199, RGD:39128234 |
NCBI chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
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G |
A4galt |
alpha 1,4-galactosyltransferase (P blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11482875 |
|
NCBI chr 7:124,085,832...124,110,440
Ensembl chr 7:124,085,834...124,089,385
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G |
Arid1a |
AT-rich interaction domain 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
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G |
Bbc3 |
Bcl-2 binding component 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18573879 |
|
NCBI chr 1:78,261,491...78,267,802
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G |
Bcl2l2 |
Bcl2-like 2 |
|
ISO |
mRNA:increased expression:lymph node |
RGD |
PMID:28094768 |
RGD:14394511 |
NCBI chr15:33,543,774...33,549,165
Ensembl chr15:33,544,312...33,549,164
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G |
Cct6b |
chaperonin containing TCP1 subunit 6B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr10:70,069,479...70,118,194
Ensembl chr10:70,069,491...70,118,194
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G |
Cd40 |
CD40 molecule |
treatment |
ISO |
human cell line in a mouse model |
RGD |
PMID:9192773 |
RGD:11520790 |
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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|
G |
Ftcd |
formimidoyltransferase cyclodeaminase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr20:12,806,957...12,820,466
Ensembl chr20:12,806,957...12,820,466
|
|
G |
Gna13 |
G protein subunit alpha 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr10:97,647,196...97,680,030
Ensembl chr10:97,647,111...97,684,730
|
|
G |
Id3 |
inhibitor of DNA binding 3, HLH protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143595 PMID:23143597 |
|
NCBI chr 5:154,489,603...154,491,172
Ensembl chr 5:154,489,590...154,491,223
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|
G |
Mir21 |
microRNA 21 |
treatment |
ISO |
|
RGD |
PMID:27991481 |
RGD:41404643 |
NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
|
|
G |
Mir23b |
microRNA 23b |
treatment |
ISO |
|
RGD |
PMID:27991481 |
RGD:41404643 |
NCBI chr17:823,222...823,318
Ensembl chr17:823,222...823,318
|
|
G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
ClinVar Annotator: match by term: Burkitt lymphoma DNA:mutations:exons:multiple (human) ClinVar Annotator: match by OMIM:113970 |
ClinVar OMIM |
PMID:8220424 PMID:25157968, PMID:8220424, PMID:8397370 |
RGD:1601453, RGD:10059619 |
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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|
G |
Pbx1 |
PBX homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1967982 PMID:17244677 |
|
NCBI chr13:86,390,741...86,671,460
Ensembl chr13:86,390,741...86,451,002
|
|
G |
Pc |
pyruvate carboxylase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr 1:219,759,157...219,859,854
Ensembl chr 1:219,759,183...219,859,848
|
|
G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
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G |
Ret |
ret proto-oncogene |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
|
|
G |
Sall3 |
spalt-like transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr18:77,572,200...77,591,710
Ensembl chr18:77,573,702...77,579,969
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|
G |
Smarca4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23143597 |
|
NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
|
|
G |
Tcf3 |
transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1967982 PMID:17244677 |
|
NCBI chr 7:12,146,642...12,168,400
Ensembl chr 7:12,144,162...12,168,410
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|
|
G |
Slc11a1 |
solute carrier family 11 member 1 |
susceptibility |
ISO |
ClinVar Annotator: match by OMIM:610446 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:16395392 |
|
NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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|
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G |
Fut2 |
fucosyltransferase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12692541 |
|
NCBI chr 1:101,631,633...101,651,668
Ensembl chr 1:101,631,635...101,651,668
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G |
Il23a |
interleukin 23 subunit alpha |
|
ISO |
|
RGD |
PMID:27322540, PMID:27385977 |
RGD:39457954, RGD:39458040 |
NCBI chr 7:2,710,609...2,712,723
Ensembl chr 7:2,710,609...2,712,723
|
|
G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
treatment |
ISO |
|
RGD |
PMID:23180818 |
RGD:38599193 |
NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
|
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G |
Slc11a1 |
solute carrier family 11 member 1 |
|
ISO |
|
RGD |
PMID:18656410 |
RGD:5684976 |
NCBI chr 9:81,655,590...81,666,697
Ensembl chr 9:81,655,629...81,666,706
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|
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G |
Aire |
autoimmune regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12050215 |
|
NCBI chr20:11,365,630...11,380,636
Ensembl chr20:11,365,697...11,380,631
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G |
Chrm2 |
cholinergic receptor, muscarinic 2 |
|
ISO |
|
RGD |
PMID:19958780 |
RGD:5509581 |
NCBI chr 4:64,089,028...64,091,090
Ensembl chr 4:64,088,900...64,091,090
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|
G |
Il33 |
interleukin 33 |
treatment |
ISO |
|
RGD |
PMID:22661085 |
RGD:40400896 |
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
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G |
Ltf |
lactotransferrin |
|
ISO |
|
RGD |
PMID:17922408 |
RGD:7243948 |
NCBI chr 8:119,290,416...119,313,261
Ensembl chr 8:119,290,416...119,313,261
|
|
G |
Ncr1 |
natural cytotoxicity triggering receptor 1 |
disease_progression |
ISO |
|
RGD |
PMID:27736647 |
RGD:40818241 |
NCBI chr 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
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G |
Card9 |
caspase recruitment domain family, member 9 |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 2 ClinVar Annotator: match by OMIM:212050 |
OMIM ClinVar |
PMID:19864672 PMID:21983784 PMID:22730530 PMID:23335372 PMID:24033266 PMID:24068945 PMID:24131138 PMID:24704721 PMID:25702837 PMID:25731871 PMID:25741868 PMID:25933095 PMID:26038974 PMID:26521038 PMID:26679537 PMID:27490946 PMID:27777981 PMID:28252032 PMID:28492532 PMID:29307770 PMID:29890237 |
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NCBI chr 3:3,798,346...3,806,841
Ensembl chr 3:3,798,347...3,806,713
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G |
Clec7a |
C-type lectin domain containing 7A |
|
ISO |
ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis |
OMIM ClinVar |
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 |
|
NCBI chr 4:163,216,152...163,227,367
Ensembl chr 4:163,216,163...163,227,334
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G |
Il17f |
interleukin 17F |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 6 ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT ClinVar Annotator: match by This custom term has been created by RGD curators. |
OMIM ClinVar |
PMID:21350122 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 9:26,885,702...26,897,219
Ensembl chr 9:26,885,708...26,897,219
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G |
Traf3ip2 |
Traf3 interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 8 ClinVar Annotator: match by OMIM:615527 |
OMIM ClinVar |
PMID:22513239 PMID:24120361 PMID:25741868 PMID:28492532 |
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NCBI chr20:44,679,861...44,722,874
Ensembl chr20:44,680,449...44,722,872
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G |
Il17rc |
interleukin 17 receptor C |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar OMIM |
PMID:25918342 PMID:28492532 |
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NCBI chr 4:145,426,647...145,439,845
Ensembl chr 4:145,427,367...145,439,843
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G |
Il17re |
interleukin 17 receptor E |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:145,413,157...145,426,608
Ensembl chr 4:145,413,230...145,426,603
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G |
Jagn1 |
jagunal homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:145,399,885...145,404,605
Ensembl chr 4:145,399,913...145,404,617
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G |
Ace2 |
angiotensin I converting enzyme 2 |
|
ISO |
encephalomyocarditis virus;mRNA, protein:decreased expression, increased expression:heart (mouse) |
RGD |
PMID:19453650 |
RGD:40818405 |
NCBI chr X:32,050,734...32,095,860
Ensembl chr X:32,049,931...32,096,016
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G |
Eif2ak2 |
eukaryotic translation initiation factor 2-alpha kinase 2 |
|
ISO |
|
RGD |
PMID:21636578 |
RGD:40902809 |
NCBI chr 6:1,428,845...1,466,193
Ensembl chr 6:1,428,834...1,466,201
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G |
Ifnar1 |
interferon alpha and beta receptor subunit 1 |
susceptibility |
IMP |
|
RGD |
PMID:27999109, PMID:27999109 |
RGD:12910492, RGD:12910492 |
NCBI chr11:31,640,407...31,666,839
Ensembl chr11:31,640,407...31,664,061
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G |
Ifnar1em1 |
interferon alpha and beta receptor subunit 1; CRISPR/Cas9 induced mutant 1 |
|
IMP |
|
RGD |
PMID:27999109 |
RGD:12910492 |
|
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G |
Ifnar1em2 |
interferon alpha and beta receptor subunit 1; CRISPR/Cas9 induced mutant 2 |
|
IMP |
|
RGD |
PMID:27999109 |
RGD:12910492 |
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G |
Il33 |
interleukin 33 |
|
ISO |
mRNA:increased expression:brain: |
RGD |
PMID:18552204 |
RGD:40400716 |
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
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G |
Pde12 |
phosphodiesterase 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26055709 |
|
NCBI chr16:2,357,028...2,367,069
Ensembl chr16:2,357,028...2,367,253
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G |
Rnasel |
ribonuclease L |
|
ISO |
|
RGD |
PMID:21636578 |
RGD:40902809 |
NCBI chr13:71,188,712...71,202,636
Ensembl chr13:71,192,142...71,202,625
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|
G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10609881 |
|
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
|
RGD |
PMID:15337840 |
RGD:1581246 |
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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G |
Gria1 |
glutamate ionotropic receptor AMPA type subunit 1 |
|
IEP |
mRNA:increased expression:hippocampus (rat) |
RGD |
PMID:19660546 |
RGD:2325963 |
NCBI chr10:42,441,723...42,760,200
Ensembl chr10:42,614,713...42,760,200
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G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
|
IEP |
mRNA:increased expression:hippocampus (rat) |
RGD |
PMID:19660546 |
RGD:2325963 |
NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
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|
G |
Plat |
plasminogen activator, tissue type |
|
IEP |
protein:increased expression:cerebellum (rat) |
RGD |
PMID:19279110 |
RGD:11537478 |
NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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G |
Ace2 |
angiotensin I converting enzyme 2 |
susceptibility |
ISO |
DNA:SNP:intron 1: C>T |
RGD |
PMID:20117248 |
RGD:40818420 |
NCBI chr X:32,050,734...32,095,860
Ensembl chr X:32,049,931...32,096,016
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|
G |
Aqp4 |
aquaporin 4 |
disease_progression |
ISO |
protein:increased expression:astrocyte: |
RGD |
PMID:21904632 |
RGD:8698661 |
NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
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G |
Cast |
calpastatin |
|
ISO |
protein:increased express:brain |
RGD |
PMID:16236382 |
RGD:5509817 |
NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
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G |
Cd36 |
CD36 molecule |
|
ISO |
|
RGD |
PMID:17367535 |
RGD:6893527 |
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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G |
Clec12a |
C-type lectin domain family 12, member A |
ameliorates |
ISO |
|
RGD |
PMID:31269448 |
RGD:41412201 |
NCBI chr 4:163,112,100...163,130,979
Ensembl chr 4:163,112,301...163,126,864
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|
G |
Il1rl1 |
interleukin 1 receptor-like 1 |
treatment |
ISO |
|
RGD |
PMID:25682948 |
RGD:40400741 |
NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
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|
G |
Il33 |
interleukin 33 |
treatment |
ISO |
protein:increased expression:brain |
RGD |
PMID:25659095, PMID:25682948 |
RGD:39938955, RGD:40400741 |
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
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G |
Jak3 |
Janus kinase 3 |
|
ISO |
|
RGD |
PMID:22363534 |
RGD:11531103 |
NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
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G |
Lta |
lymphotoxin alpha |
|
ISO |
|
RGD |
PMID:12021316 |
RGD:10449455 |
NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
|
|
G |
Nrg1 |
neuregulin 1 |
treatment |
ISO |
mRNA, protein:increased expression:cerebral cortex (mouse) human protein in a mouse model |
RGD |
PMID:29636063, PMID:24433482 |
RGD:39456084, RGD:39456102 |
NCBI chr16:62,969,573...64,065,063
Ensembl chr16:63,837,216...64,057,434
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
|
ISO |
|
RGD |
PMID:25775137 |
RGD:38599200 |
NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
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G |
Prkaa2 |
protein kinase AMP-activated catalytic subunit alpha 2 |
|
ISO |
mRNA:decreased expression:brain (mouse) |
RGD |
PMID:29107705 |
RGD:39456137 |
NCBI chr 5:124,568,845...124,642,569
Ensembl chr 5:124,574,079...124,642,569
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|
G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
|
ISO |
|
RGD |
PMID:12228317 |
RGD:5131158 |
NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
|
|
|
G |
Nfkb1 |
nuclear factor kappa B subunit 1 |
severity |
ISO |
|
RGD |
PMID:20156658 |
RGD:40902838 |
NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
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G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
|
IEP |
|
RGD |
PMID:17187651 |
RGD:7349350 |
NCBI chr 1:214,663,929...214,693,197
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G |
Il10 |
interleukin 10 |
treatment |
IDA |
|
RGD |
PMID:24055715 |
RGD:7364866 |
NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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G |
Il23a |
interleukin 23 subunit alpha |
|
ISO |
|
RGD |
PMID:28356392 |
RGD:39457935 |
NCBI chr 7:2,710,609...2,712,723
Ensembl chr 7:2,710,609...2,712,723
|
|
G |
Mbl2 |
mannose binding lectin 2 |
severity |
ISO |
|
RGD |
PMID:26745156 |
RGD:11076757 |
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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|
G |
Pcna |
proliferating cell nuclear antigen |
|
IEP |
protein:increased expression:myocardium: |
RGD |
PMID:12435130 |
RGD:10448990 |
NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
|
|
G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
disease_progression |
ISO |
mRNA:increased expression:heart (mouse) mRNA:increased expression:heart (human) |
RGD |
PMID:29666415, PMID:29666415, PMID:29666415 |
RGD:38599151, RGD:38599151, RGD:38599151 |
NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
|
|
G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphism:exon (human) |
RGD |
PMID:19811437 |
RGD:5147589 |
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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|
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
IEP |
|
RGD |
PMID:16844401 |
RGD:2307145 |
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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G |
Ccl3 |
C-C motif chemokine ligand 3 |
|
IEP |
|
RGD |
PMID:16844401 |
RGD:2307145 |
NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
|
IMP |
|
RGD |
PMID:20452453 |
RGD:4889906 |
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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G |
Chrm2 |
cholinergic receptor, muscarinic 2 |
|
ISO |
|
RGD |
PMID:9148906 |
RGD:5509585 |
NCBI chr 4:64,089,028...64,091,090
Ensembl chr 4:64,088,900...64,091,090
|
|
G |
F2 |
coagulation factor II |
|
ISO |
protein:increased expression:blood plasma (human) |
RGD |
PMID:20699256, PMID:21866301 |
RGD:5147778, RGD:40818435 |
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
|
|
G |
Hspa4 |
heat shock protein family A (Hsp70) member 4 |
|
ISO |
|
RGD |
PMID:21801456 |
RGD:6218957 |
NCBI chr10:38,601,624...38,642,397
Ensembl chr10:38,601,624...38,642,397
|
|
G |
Ifng |
interferon gamma |
|
IDA |
|
RGD |
PMID:10684988 |
RGD:10755744 |
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
|
|
G |
Il23a |
interleukin 23 subunit alpha |
susceptibility |
ISO |
|
RGD |
PMID:23182712 |
RGD:39457956 |
NCBI chr 7:2,710,609...2,712,723
Ensembl chr 7:2,710,609...2,712,723
|
|
G |
Prg2 |
proteoglycan 2 |
|
ISO |
mRNA:increased expression:plancenta (human) |
RGD |
PMID:29545200 |
RGD:40902989 |
NCBI chr 3:72,385,678...72,389,245
Ensembl chr 3:72,385,666...72,389,276
|
|
G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
DNA:polymorphisms:exon (human) |
RGD |
PMID:19811437 |
RGD:5147589 |
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
|
|
G |
Vim |
vimentin |
severity |
IEP ISO |
protein:increased expression:plasma |
RGD |
PMID:22199233, PMID:22199233 |
RGD:6480538, RGD:6480538 |
NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
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G |
Bst2 |
bone marrow stromal cell antigen 2 |
|
ISO |
|
RGD |
PMID:25053563 |
RGD:14398493 |
NCBI chr16:19,938,781...19,942,353
Ensembl chr16:19,938,784...19,942,353
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G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
DNA:polymorphism:cds: HLA-DQB1*03:03 (human) |
RGD |
PMID:23710940 |
RGD:36049872 |
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
|
ISO |
|
RGD |
PMID:16118671 |
RGD:8549760 |
NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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G |
Cd40 |
CD40 molecule |
|
ISO |
|
RGD |
PMID:20102413 |
RGD:5132268 |
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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G |
Foxp3 |
forkhead box P3 |
treatment |
ISO |
|
RGD |
PMID:30832593 |
RGD:38455984 |
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
mRNA:increased expression:lung (mouse) |
RGD |
PMID:19728926 |
RGD:4145507 |
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
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G |
Ido1 |
indoleamine 2,3-dioxygenase 1 |
treatment |
ISO |
mRNA:increased expression:lung (mouse) |
RGD |
PMID:30832593, PMID:31249813 |
RGD:38455984, RGD:39938856 |
NCBI chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
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G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19203382 |
|
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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G |
Il13 |
interleukin 13 |
|
ISO |
|
RGD |
PMID:21573182 |
RGD:5684365 |
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
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G |
Il17a |
interleukin 17A |
|
ISO |
associated with Bronchial Hyprractivity; mRNA:increased expression:lung |
RGD |
PMID:20228193, PMID:19812198 |
RGD:4888528, RGD:4889101 |
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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G |
Mir21 |
microRNA 21 |
|
ISO |
associated with asthma;RNA:increased expression:lung |
RGD |
PMID:27448447 |
RGD:41404696 |
NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
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G |
Tgfb1 |
transforming growth factor, beta 1 |
treatment |
ISO |
|
RGD |
PMID:30832593 |
RGD:38455984 |
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19203382 |
|
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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G |
Cd274 |
CD274 molecule |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:26378990 |
RGD:41412180 |
NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
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G |
Pdcd1 |
programmed cell death 1 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:26378990 |
RGD:41412180 |
NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845 Ensembl chr 9:101,307,764...101,319,845
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G |
Pik3cd |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta |
severity |
ISO |
|
RGD |
PMID:29893841 |
RGD:40890270 |
NCBI chr 5:166,602,053...166,628,028
Ensembl chr 5:166,602,053...166,628,028
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G |
Plac8 |
placenta associated 8 |
severity exacerbates |
ISO |
|
RGD |
PMID:22238459, PMID:22238459 |
RGD:40925930, RGD:40925930 |
NCBI chr14:10,692,799...10,714,556
Ensembl chr14:10,692,764...10,714,524
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G |
Hdc |
histidine decarboxylase |
|
ISO |
|
RGD |
PMID:14556983 |
RGD:5143922 |
NCBI chr 3:119,057,524...119,075,599
Ensembl chr 3:119,057,517...119,075,619
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G |
Mmp14 |
matrix metallopeptidase 14 |
|
IEP |
|
RGD |
PMID:12526080 |
RGD:1582580 |
NCBI chr15:33,074,441...33,083,666
Ensembl chr15:33,074,441...33,083,655
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G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
|
RGD |
PMID:12526080 |
RGD:1582580 |
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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G |
Duox2 |
dual oxidase 2 |
treatment |
ISO |
|
RGD |
PMID:29133347 |
RGD:40925924 |
NCBI chr 3:114,218,187...114,237,808
Ensembl chr 3:114,218,193...114,235,933
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G |
Mir155 |
microRNA 155 |
|
ISO |
miRNA:increased expression:duodenum |
RGD |
PMID:28319200 |
RGD:25314323 |
NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
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G |
Ifng |
interferon gamma |
treatment |
ISO |
|
RGD |
PMID:29481557 |
RGD:14975102 |
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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G |
Ccl24 |
C-C motif chemokine ligand 24 |
|
ISO |
protein:increased expression:plasma: |
RGD |
PMID:26615570 |
RGD:11538286 |
NCBI chr12:24,131,529...24,152,626
Ensembl chr12:24,148,567...24,152,625
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G |
Cd28 |
Cd28 molecule |
|
ISO |
|
RGD |
PMID:18801465 |
RGD:5131614 |
NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
ISO |
protein:decreased expression:plasma: |
RGD |
PMID:26615570 |
RGD:11538286 |
NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
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G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
|
ISO |
protein:decreased expression:plasma: |
RGD |
PMID:26615570 |
RGD:11538286 |
NCBI chr14:17,228,832...17,233,743
Ensembl chr14:17,228,856...17,234,712
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G |
Disc1 |
DISC1 scaffold protein |
susceptibility |
ISO |
DNA:SNP:Cds:p.S704C(human) |
RGD |
PMID:20227423 |
RGD:5509831 |
NCBI chr19:57,818,838...58,069,992
Ensembl chr19:57,820,260...58,066,152
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G |
Il16 |
interleukin 16 |
|
ISO |
protein:decreased expression:plasma: |
RGD |
PMID:26615570 |
RGD:11538286 |
NCBI chr 1:145,781,923...145,881,538
Ensembl chr 1:145,781,928...145,870,912
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G |
Prf1 |
perforin 1 |
|
ISO |
|
RGD |
PMID:21619669 |
RGD:6482801 |
NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
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G |
Ren |
renin |
|
ISO |
associated with Postural Orthostatic Tachycardia Syndrome; protein:increased activity:plasma (human) |
RGD |
PMID:21906029 |
RGD:6892702 |
NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
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G |
RT1-Ba |
RT1 class II, locus Ba |
|
ISO |
DNA:polymorphism (human) |
RGD |
PMID:16049290 |
RGD:5147827 |
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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G |
Serpinf1 |
serpin family F member 1 |
|
ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:16321154 |
RGD:28867246 |
NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
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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 chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
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G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
|
ISO |
DNA:SNPs: : |
RGD |
PMID:27834303 |
RGD:40886272 |
NCBI chr 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
protein:decreased expression:plasma: |
RGD |
PMID:26615570 |
RGD:11538286 |
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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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 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
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G |
Apoe |
apolipoprotein E |
susceptibility |
ISO |
DNA:missense mutations:cds:p.C112R, p.R158C (human) |
RGD |
PMID:20961200 |
RGD:14401585 |
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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G |
C2 |
complement C2 |
susceptibility |
IAGP |
DNA:SNP:exon: p.Glu318Asp (human) |
RGD |
PMID:22610944 |
RGD:40886317 |
NCBI chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO |
protein:decreased expression:serum: |
RGD |
PMID:26281331 |
RGD:14995947 |
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
severity |
ISO |
|
RGD |
PMID:17711627 |
RGD:14995339 |
NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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G |
Ccn2 |
cellular communication network factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17657819 |
|
NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
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G |
Cd274 |
CD274 molecule |
treatment |
ISO |
protein:increased expression:regulatory T cell |
RGD |
PMID:26266813, PMID:20460044 |
RGD:11344683, RGD:41412166 |
NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
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G |
Cemip2 |
cell migration inducing hyaluronidase 2 |
susceptibility |
ISO |
DNA:SNP:exon: p.Ser1254Asn (human) |
RGD |
PMID:22610944 |
RGD:40886317 |
NCBI chr 1:239,397,322...239,474,931
Ensembl chr 1:239,398,043...239,474,931
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
susceptibility |
ISO |
DNA:SNP: :-318C>T(human) |
RGD |
PMID:16489681 |
RGD:14398727 |
NCBI chr 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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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 chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
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G |
Eif2ak3 |
eukaryotic translation initiation factor 2 alpha kinase 3 |
|
ISO |
|
RGD |
PMID:26234401 |
RGD:32716425 |
NCBI chr 4:98,648,513...98,709,695
Ensembl chr 4:98,648,545...98,709,694
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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:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
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G |
Gpt |
glutamic--pyruvic transaminase |
treatment disease_progression |
ISO |
|
RGD |
PMID:29279233, PMID:28007350 |
RGD:14975159, RGD:14975240 |
NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
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G |
Hp |
haptoglobin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16597321 |
|
NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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G |
Ido1 |
indoleamine 2,3-dioxygenase 1 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:28465467 |
RGD:39939037 |
NCBI chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
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G |
Ifna2 |
interferon alpha 2 |
susceptibility |
ISO |
DNA:SNP:exon: p.Ala120Thr (human) |
RGD |
PMID:22610944 |
RGD:40886317 |
NCBI chr 5:107,416,117...107,416,695
Ensembl chr 5:107,416,117...107,416,695
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G |
Ifng |
interferon gamma |
|
ISO |
protein:decreased expression:serum (human) |
RGD |
PMID:26684441, PMID:28465467 |
RGD:14974255, RGD:39939037 |
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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G |
Il12a |
interleukin 12A |
|
ISO |
mRNA:increased expression:liver |
RGD |
PMID:26062743 |
RGD:11097839 |
NCBI chr 2:165,076,945...165,083,996
Ensembl chr 2:165,076,607...165,084,318
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G |
Il12b |
interleukin 12B |
susceptibility |
ISO |
DNA:SNP:3'utr: (rs3212227) |
RGD |
PMID:25469587 |
RGD:11074616 |
NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
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G |
Il18 |
interleukin 18 |
disease_progression |
ISO |
DNA:SNP:promoter:-607C>A(human) |
RGD |
PMID:27470888 |
RGD:14696663 |
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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G |
Il1rl1 |
interleukin 1 receptor-like 1 |
severity |
ISO |
protein:increased expression:serum: |
RGD |
PMID:27180842, PMID:28381383 |
RGD:39457933, RGD:39938857 |
NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
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G |
Il2 |
interleukin 2 |
susceptibility |
ISO |
DNA:polymorphism:promoter:-385T>G(human) |
RGD |
PMID:19105930 |
RGD:14747034 |
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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G |
Il33 |
interleukin 33 |
severity treatment |
ISO |
|
RGD |
PMID:27180842, PMID:25714983 |
RGD:39457933, RGD:39938954 |
NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
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G |
Il4 |
interleukin 4 |
disease_progression treatment |
ISO |
DNA:SNP:promoter:-590C>T (human) |
RGD |
PMID:26281177, PMID:21331994 |
RGD:14696675, RGD:14696697 |
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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G |
Itih4 |
inter-alpha-trypsin inhibitor heavy chain 4 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:24836184 |
RGD:40903002 |
NCBI chr16:6,970,367...6,985,538
Ensembl chr16:6,970,342...6,985,579
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G |
Jak1 |
Janus kinase 1 |
disease_progression |
ISO |
DNA:SNPs: :rs4244165, rs17127024 (human) |
RGD |
PMID:22901011 |
RGD:19165132 |
NCBI chr 5:119,982,503...120,091,452
Ensembl chr 5:119,982,943...120,083,904
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|
G |
Keap1 |
Kelch-like ECH-associated protein 1 |
|
ISO |
mRNA:decreased expression:liver (human) |
RGD |
PMID:22459801 |
RGD:6892954 |
NCBI chr 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779
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|
G |
Klrc1 |
killer cell lectin like receptor C1 |
severity |
ISO |
protein:increased expression:Peripheral blood mononuclear cell, natural killer cell (human) |
RGD |
PMID:28328926 |
RGD:40400737 |
NCBI chr 4:163,453,435...163,463,718
Ensembl chr 4:163,458,528...163,463,718
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|
G |
Klrk1 |
killer cell lectin like receptor K1 |
susceptibility |
ISO |
DNA:SNP:intron 1:(rs2617160) (human) |
RGD |
PMID:20648603 |
RGD:39018553 |
NCBI chr 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
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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 7:143,629,455...143,633,131
Ensembl chr 7:143,629,455...143,633,131
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G |
Lepr |
leptin receptor |
|
ISO |
mRNA:altered exression:PBMC,liver |
RGD |
PMID:17060687 |
RGD:21079470 |
NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
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|
G |
Mbl2 |
mannose binding lectin 2 |
severity |
ISO |
DNA:haplotype: : |
RGD |
PMID:27824315 |
RGD:14696831 |
NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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|
G |
Mir106b |
microRNA 106b |
severity |
IEP |
associated with hepatocellular carcinoma;miRNA:increased expression:liver (human) |
RGD |
PMID:27298561 |
RGD:15042853 |
NCBI chr12:19,307,752...19,307,833
Ensembl chr12:19,307,752...19,307,833
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G |
Mir155 |
microRNA 155 |
|
ISO |
|
RGD |
PMID:30735455 |
RGD:21081537 |
NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
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|
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 1:73,178,917...73,226,504
Ensembl chr 1:73,179,013...73,226,777
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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 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845 Ensembl chr 9:101,307,764...101,319,845
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G |
Ppp1r15a |
protein phosphatase 1, regulatory subunit 15A |
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ISO |
mRNA,protein:increased expression:liver |
RGD |
PMID:26234401 |
RGD:32716425 |
NCBI chr 1:101,511,899...101,515,043
Ensembl chr 1:101,511,901...101,514,974
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G |
RT1-Ba |
RT1 class II, locus Ba |
treatment susceptibility disease_progression |
ISO |
DNA:polymorphisms: : DNA:haplotype:: DNA:polymorphisms: :HLA-DQA1*0303, HLA-DQA1*0505(human) DNA:polymorphism: : |
RGD |
PMID:27386643, PMID:22807686, PMID:16883532, PMID:15237447, PMID:14562382 |
RGD:14398752, RGD:14398843, RGD:14398840, RGD:14398838, RGD:14398759 |
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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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 chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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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 |
PMID:19349983, PMID:29300980, PMID:28275747, PMID:30267609, PMID:30267609 |
RGD:14694973, RGD:14694818, RGD:14694817, RGD:14694817 |
NCBI chr20:3,875,478...3,885,140
Ensembl chr20:3,875,706...3,881,461
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Stat2 |
signal transducer and activator of transcription 2 |
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ISO |
mRNA:decreased expression:monocyte (human) |
RGD |
PMID:30842274 |
RGD:41789632 |
NCBI chr 7:2,691,064...2,707,530
Ensembl chr 7:2,691,369...2,707,741
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G |
Stat4 |
signal transducer and activator of transcription 4 |
susceptibility |
ISO |
DNA:SNPs, haplotypes:multiple |
RGD |
PMID:25829184 |
RGD:25671420 |
NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
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G |
Sting1 |
stimulator of interferon response cGAMP interactor 1 |
susceptibility |
ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:30593207 |
RGD:39128221 |
NCBI chr18:28,529,537...28,535,828
Ensembl chr18:28,529,576...28,535,828
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G |
Tap1 |
transporter 1, ATP binding cassette subfamily B member |
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ISO |
mRNA:decreased expression:blood |
RGD |
PMID:21843574 |
RGD:6482248 |
NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
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G |
Tert |
telomerase reverse transcriptase |
susceptibility |
ISO |
DNA:SNP, haplotype: :rs10069690,rs2242652(human) |
RGD |
PMID:29507683 |
RGD:14696786 |
NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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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 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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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 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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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 chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
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G |
Tlr4 |
toll-like receptor 4 |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:28414577 |
RGD:15090812 |
NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
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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 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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G |
Tnfsf13b |
TNF superfamily member 13b |
treatment |
ISO |
|
RGD |
PMID:30660173 |
RGD:27095888 |
NCBI chr16:85,275,690...85,306,419
Ensembl chr16:85,275,678...85,306,366
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G |
Ube2l3 |
ubiquitin-conjugating enzyme E2L 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24162738 |
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NCBI chr11:88,047,186...88,088,477
Ensembl chr11:88,047,832...88,088,476
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G |
Abca1 |
ATP binding cassette subfamily A member 1 |
severity |
ISO |
DNA:SNP:introns:(rs3890182, rs1883025) (human) |
RGD |
PMID:28164591 |
RGD:21066337 |
NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
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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 3:55,480,024...55,587,946
Ensembl chr 3:55,480,024...55,587,946
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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 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
protein:increased expression:serum |
RGD |
PMID:26293833 |
RGD:14401718 |
NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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G |
Aicda |
activation-induced cytidine deaminase |
disease_progression |
ISO |
mRNA:increased expression:B cell mRNA, protein:increased expression:CD19+Bcell: |
RGD |
PMID:26219420, PMID:20189883, PMID:26946048 |
RGD:30296664, RGD:32716380, RGD:32716369 |
NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
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Ang |
angiogenin |
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ISO |
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RGD |
PMID:21848603 |
RGD:6892709 |
NCBI chr15:28,022,926...28,028,636
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G |
Apoe |
apolipoprotein E |
severity |
ISO |
DNA:polymorphism:exon: |
RGD |
PMID:12143056 |
RGD:7495764 |
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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G |
Aurka |
aurora kinase A |
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ISO |
mRNA:increased expression:CD19+Bcell: |
RGD |
PMID:20189883 |
RGD:32716380 |
NCBI chr 3:170,364,177...170,380,278
Ensembl chr 3:170,364,181...170,378,210
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
RNA:increased expression:liver: |
RGD |
PMID:24429361 |
RGD:14975280 |
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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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 chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
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G |
Ccnd1 |
cyclin D1 |
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ISO |
mRNA:increased expression:CD19+Bcell: |
RGD |
PMID:20189883 |
RGD:32716380 |
NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
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G |
Ccnd2 |
cyclin D2 |
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ISO |
mRNA:increased expression:CD19+Bcell: |
RGD |
PMID:20189883 |
RGD:32716380 |
NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
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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 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
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G |
Cd209 |
CD209 molecule |
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ISO |
DNA:SNPs,haplotypes:promoter: -939G>A, -871A>G (human) |
RGD |
PMID:27348632 |
RGD:39939007 |
NCBI chr12:2,406,879...2,413,324
Ensembl chr12:2,406,879...2,413,324
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G |
Cd226 |
CD226 molecule |
treatment |
ISO |
|
RGD |
PMID:21695691 |
RGD:40818295 |
NCBI chr18:86,299,392...86,394,772
Ensembl chr18:86,299,463...86,394,765
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G |
Cd274 |
CD274 molecule |
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ISO |
protein:increased expression:peripheral blood mononuclear cell |
RGD |
PMID:18086898 |
RGD:41410796 |
NCBI chr 1:247,519,890...247,539,659
Ensembl chr 1:247,519,939...247,537,943
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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 chr11:77,815,216...77,830,373
Ensembl chr11:77,815,181...77,830,416
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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 chr12:2,817,633...2,826,303
Ensembl chr12:2,816,065...2,826,378
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G |
Cpt1a |
carnitine palmitoyltransferase 1A |
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ISO |
mRNA, protein:decreased expression:liver hepatocytes (human) |
RGD |
PMID:15685545 |
RGD:5683635 |
NCBI chr 1:218,568,157...218,629,679
Ensembl chr 1:218,569,510...218,629,678
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G |
Crp |
C-reactive protein |
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ISO |
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RGD |
PMID:22333691 |
RGD:6482311 |
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
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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 9:67,699,397...67,706,068
Ensembl chr 9:67,699,379...67,706,065
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:31127759 |
RGD:27095949 |
NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
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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 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
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G |
Cyp2d4 |
cytochrome P450, family 2, subfamily d, polypeptide 4 |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:10435724 |
RGD:11353781 |
NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
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G |
Foxp3 |
forkhead box P3 |
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ISO |
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RGD |
PMID:18673437 |
RGD:38548921 |
NCBI chr X:15,753,175...15,768,648
Ensembl chr X:15,753,175...15,768,522
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G |
Ggt1 |
gamma-glutamyltransferase 1 |
severity |
ISO |
|
RGD |
PMID:10934805 |
RGD:14747019 |
NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
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G |
Gpt |
glutamic--pyruvic transaminase |
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ISO |
protein:increased activity:plasma |
RGD |
PMID:22922605 |
RGD:14975251 |
NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
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G |
Gpt2 |
glutamic--pyruvic transaminase 2 |
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ISO |
protein:increased activity:plasma |
RGD |
PMID:22922605 |
RGD:14975251 |
NCBI chr19:22,599,003...22,633,529
Ensembl chr19:22,590,881...22,632,071
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G |
Gstm1 |
glutathione S-transferase mu 1 |
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ISO |
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RGD |
PMID:17397002 |
RGD:14700966 |
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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G |
Gstt1 |
glutathione S-transferase theta 1 |
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ISO |
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RGD |
PMID:17397002 |
RGD:14700966 |
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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G |
Hp |
haptoglobin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16597321 |
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NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
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G |
Ido1 |
indoleamine 2,3-dioxygenase 1 |
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ISO |
mRNA, protein:increased expression, increased activity:monocytes,myeloid dendritic cells,serum (human) |
RGD |
PMID:25605587 |
RGD:39939081 |
NCBI chr16:72,216,326...72,228,098
Ensembl chr16:72,216,326...72,228,098
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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 |
RGD:40886308, RGD:40886318, RGD:40886316, RGD:40886314, RGD:40886313, RGD:40886311, RGD:40886310 |
NCBI chr 5:107,416,117...107,416,695
Ensembl chr 5:107,416,117...107,416,695
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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 |
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 1:85,236,243...85,237,775
Ensembl chr 1:85,236,243...85,237,775
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G |
Igf2 |
insulin-like growth factor 2 |
severity |
ISO |
DNA:SNPs, haplotype:multiple |
RGD |
PMID:16750516 |
RGD:14401723 |
NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
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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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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G |
Il12b |
interleukin 12B |
severity |
ISO |
DNA:SNP:3' utr:+1188A>C (human) |
RGD |
PMID:15871664 |
RGD:14401721 |
NCBI chr10:30,034,447...30,048,774
Ensembl chr10:30,038,709...30,048,085
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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 chr15:37,790,211...37,807,653
Ensembl chr15:37,790,141...37,807,660
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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 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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G |
Il2 |
interleukin 2 |
treatment |
ISO |
|
RGD |
PMID:12673448 |
RGD:14807336 |
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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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 chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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G |
Il6 |
interleukin 6 |
treatment |
ISO |
DNA:SNPs:promoter:rs1800795 (human) |
RGD |
PMID:27812403 |
RGD:14975294 |
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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G |
Isg15 |
ISG15 ubiquitin-like modifier |
treatment |
ISO |
|
RGD |
PMID:28036111 |
RGD:40400915 |
NCBI chr 5:173,624,862...173,629,124
Ensembl chr 5:173,624,310...173,626,248
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G |
Itgb6 |
integrin subunit beta 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18221819 |
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NCBI chr 3:46,652,624...46,775,362
Ensembl chr 3:46,652,623...46,726,958
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G |
Kir3dl1 |
killer cell immunoglobulin-like receptor, three domains, 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 1:73,306,564...73,345,009
Ensembl chr 1:73,307,569...73,344,955
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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 4:163,453,435...163,463,718
Ensembl chr 4:163,458,528...163,463,718
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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 4:163,392,652...163,403,735
Ensembl chr 4:163,393,217...163,403,653
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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 7:143,629,455...143,633,131
Ensembl chr 7:143,629,455...143,633,131
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G |
Krt8 |
keratin 8 |
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ISO |
protein:increased phosphorylation:liver (human) |
RGD |
PMID:15368451 |
RGD:14401583 |
NCBI chr 7:143,596,511...143,603,745
Ensembl chr 7:143,596,511...143,603,803
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G |
Lep |
leptin |
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IEP |
protein:altered localization:serum (human) |
RGD |
PMID:11336170 |
RGD:21201249 |
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
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G |
Lepr |
leptin receptor |
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ISO |
mRNA:altered exression:PBMC,liver |
RGD |
PMID:17060687 |
RGD:21079470 |
NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
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G |
Lgals3 |
galectin 3 |
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ISO |
mRNA:increased expression:CD19+Bcell: |
RGD |
PMID:20189883 |
RGD:32716380 |
NCBI chr15:24,153,602...24,165,537
Ensembl chr15:24,141,651...24,165,537
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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 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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G |
Mir107 |
microRNA 107 |
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ISO |
RNA:decreased expression:liver: |
RGD |
PMID:24429361 |
RGD:14975280 |
NCBI chr 1:253,128,250...253,128,336
Ensembl chr 1:253,128,250...253,128,336
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G |
Mir122 |
microRNA 122 |
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ISO |
miRNA:increased expression:serum |
RGD |
PMID:24895202 |
RGD:14401602 |
NCBI chr18:60,755,285...60,755,369
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