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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Casp3 |
caspase 3 |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent |
RGD |
PMID:16443785 |
RGD:2311430 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casp8 |
caspase 8 |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent |
RGD |
PMID:16443785 |
RGD:2311430 |
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Casp9 |
caspase 9 |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent |
RGD |
PMID:16443785 |
RGD:2311430 |
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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Crp |
C-reactive protein |
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ISO |
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RGD |
PMID:23937512 |
RGD:9495911 |
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Dock8 |
dedicator of cytokinesis 8 |
susceptibility |
ISO |
DNA:mutations: : |
RGD |
PMID:25724123 |
RGD:40886274 |
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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Il10 |
interleukin 10 |
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ISO |
associated with Otitis Media |
RGD |
PMID:22668804 |
RGD:7364828 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il2 |
interleukin 2 |
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ISO |
associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood |
RGD |
PMID:21574159 |
RGD:5147907 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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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 1:228,016,439...228,024,736
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Nod2 |
nucleotide-binding oligomerization domain containing 2 |
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ISO |
associated with Virus Diseases |
RGD |
PMID:21669398 |
RGD:5508748 |
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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RT1-Bb |
RT1 class II, locus Bb |
onset |
ISO |
associated with Cystic Fibrosis;DNA:polymorphism (human) |
RGD |
PMID:16987934 |
RGD:5147635 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1 |
RT1 class II, locus Db1 |
onset |
ISO |
associated with Cystic Fibrosis;DNA:polymorphism (human) |
RGD |
PMID:16987934 |
RGD:5147635 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Sdc4 |
syndecan 4 |
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IMP |
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RGD |
PMID:15001228 |
RGD:2312325 |
NCBI chr 3:153,154,888...153,173,576
Ensembl chr 3:153,154,896...153,173,580
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Tbce |
tubulin folding cofactor E |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12389028 |
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NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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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 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Arhgap44 |
Rho GTPase activating protein 44 |
disease_progression |
ISO |
DNA:SNPs, haplotype:intron, exon: (rs2072255, rs2072254) (human) DNA:SNP:intron: (rs2072255) (human) |
RGD |
PMID:28069446 PMID:21107268 |
RGD:401901288, RGD:401901289 |
NCBI chr10:49,655,583...49,822,876
Ensembl chr10:49,655,584...49,824,297
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Bst2 |
bone marrow stromal cell antigen 2 |
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ISO |
DNA:SNPs: : |
RGD |
PMID:26885809 |
RGD:14398494 |
NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979
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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 chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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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 PMID:25741868 |
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NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cd209d |
CD209d molecule |
disease_progression |
ISO |
associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human) |
RGD |
PMID:17530998 |
RGD:39939010 |
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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Cd4 |
Cd4 molecule |
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ISO |
associated with drug dependence; protein:increased expression:temporal lobe (human) |
RGD |
PMID:16873198 |
RGD:407420271 |
NCBI chr 4:157,668,878...157,695,366
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Cd40lg |
CD40 ligand |
treatment |
ISO |
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RGD |
PMID:9499800 |
RGD:11344976 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd68 |
Cd68 molecule |
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ISO |
associated with drug dependence; protein:increased expression:temporal lobe (human) |
RGD |
PMID:16873198 |
RGD:407420271 |
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Cd8a |
CD8 subunit alpha |
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ISO |
associated with drug dependence; protein:increased expression:temporal lobe (human) |
RGD |
PMID:16873198 |
RGD:407420271 |
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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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 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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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 chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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Ifna1 |
interferon, alpha 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9612607 |
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NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
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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 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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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 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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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 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Kir3dl1 |
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1 |
severity |
ISO |
DNA:missense mutation:cds: p.I47V (rs643347) (human) |
RGD |
PMID:29461980 |
RGD:38676267 |
NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050
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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 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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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 chr20:3,637,242...3,643,748
Ensembl chr20:3,638,240...3,643,799
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RT1-CE15 |
RT1 class I, locus CE15 |
susceptibility |
ISO |
DNA:polymorphism: :HLA-A31 |
RGD |
PMID:19030725 |
RGD:36049809 |
NCBI chr20:3,275,575...3,279,074
Ensembl chr20:3,264,172...3,279,563 Ensembl chr20:3,264,172...3,279,563
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RT1-CE16 |
RT1 class I, locus CE16 |
susceptibility |
ISO |
DNA:polymorphism: :HLA-A31 |
RGD |
PMID:19030725 |
RGD:36049809 |
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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Tnf |
tumor necrosis factor |
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ISO |
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RGD |
PMID:8548330 |
RGD:12904035 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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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 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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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 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Vdr |
vitamin D receptor |
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ISO |
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GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Cd163 |
CD163 molecule |
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ISO |
protein:increased expression:lung (pig) |
RGD |
PMID:33287430 |
RGD:127345134 |
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Defb1 |
defensin beta 1 |
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IEP |
mRNA:increased expression:gingival epithelium |
RGD |
PMID:17076783 |
RGD:4892269 |
NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
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Adrb2 |
adrenoceptor beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27400929 |
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NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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Epo |
erythropoietin |
treatment |
ISO |
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RGD |
PMID:20818790 |
RGD:10395393 |
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Gc |
GC, vitamin D binding protein |
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ISO |
associated with HIV Infections;protein:increased expression:cerebrospinal fluid: |
RGD |
PMID:17929958 |
RGD:5509882 |
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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Il1b |
interleukin 1 beta |
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IEP |
protein:increased expression:neocortex |
RGD |
PMID:17678975 |
RGD:1626641 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Insr |
insulin receptor |
severity |
ISO |
protein:increased expression:cerebrospinal fluid, plasma |
RGD |
PMID:22629383 |
RGD:10403033 |
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Irs1 |
insulin receptor substrate 1 |
severity |
ISO |
protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte |
RGD |
PMID:22629383 |
RGD:10403033 |
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
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Nefl |
neurofilament light chain |
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ISO |
associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human) protein:increased expression:CSF (human) |
RGD |
PMID:30105502 PMID:27400930 |
RGD:127284876, RGD:127284885 |
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Npy |
neuropeptide Y |
severity |
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:8815163 |
RGD:10431910 |
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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Oprm1 |
opioid receptor, mu 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27400929 |
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NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
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Pdgfb |
platelet derived growth factor subunit B |
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ISO |
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RGD |
PMID:21368226 |
RGD:6482787 |
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Slc6a4 |
solute carrier family 6 member 4 |
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ISO |
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RGD |
PMID:25404050 |
RGD:38676266 |
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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Agtr1a |
angiotensin II receptor, type 1a |
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ISO |
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RGD |
PMID:2 |
RGD:1303381 |
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Agtr2 |
angiotensin II receptor, type 2 |
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ISO |
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RGD |
PMID:2 |
RGD:1303381 |
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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Egf |
epidermal growth factor |
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ISO |
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RGD |
PMID:19357719 |
RGD:6906909 |
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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Hp |
haptoglobin |
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ISO |
protein:increased expression:urine |
RGD |
PMID:19279121 |
RGD:11041816 |
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Mtor |
mechanistic target of rapamycin kinase |
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ISO |
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RGD |
PMID:23678040 PMID:23678040 |
RGD:7245474, RGD:7245474 |
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Myh9 |
myosin, heavy chain 9 |
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ISO |
protein:decreased expression:glomerulus |
RGD |
PMID:22313957 |
RGD:6903274 |
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Notch4 |
notch receptor 4 |
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IEP |
protein: increased expression: kidney |
RGD |
PMID:20706108 |
RGD:6480788 |
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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Nphs1 |
NPHS1 adhesion molecule, nephrin |
treatment |
ISO |
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RGD |
PMID:19188342 PMID:17229913 |
RGD:38596324, RGD:38599164 |
NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
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Klrk1 |
killer cell lectin like receptor K1 |
treatment |
ISO |
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RGD |
PMID:23018378 |
RGD:39018554 |
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Bcl2 |
BCL2, apoptosis regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10861090 |
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NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Cd4 |
Cd4 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9546790 |
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NCBI chr 4:157,668,878...157,695,366
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Tnfrsf8 |
TNF receptor superfamily member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9379333 |
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NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
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Ccl20 |
C-C motif chemokine ligand 20 |
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ISO |
protein:decreased expression:skin |
RGD |
PMID:17545018 |
RGD:7483603 |
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Cd8a |
CD8 subunit alpha |
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ISO |
mRNA:decreased expression:zone of skin (human) |
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Foxp3 |
forkhead box P3 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Ifna1 |
interferon, alpha 1 |
treatment |
ISO |
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RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
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Il10 |
interleukin 10 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il12b |
interleukin 12B |
treatment |
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:16114559 PMID:23754510 |
RGD:7829774, RGD:40400714 |
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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Il2 |
interleukin 2 |
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ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il21 |
interleukin 21 |
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ISO |
protein:decreased expression:blood serum (human) |
RGD |
PMID:31414711 |
RGD:127285371 |
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Il4 |
interleukin 4 |
treatment |
ISO |
protein:increased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:16114559 PMID:23754510 |
RGD:7829774, RGD:40400714 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6 |
interleukin 6 |
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ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Klrk1 |
killer cell lectin like receptor K1 |
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ISO |
mRNA,protein:decreased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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|
G |
Mapk8 |
mitogen-activated protein kinase 8 |
treatment |
ISO |
mRNA:increased expression:zone of skin (human) |
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
|
|
G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
|
|
G |
Ncr1 |
natural cytotoxicity triggering receptor 1 |
|
ISO |
mRNA,protein:decreased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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|
G |
Pdcd1 |
programmed cell death 1 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
|
|
G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
|
|
G |
Ptpn6 |
protein tyrosine phosphatase, non-receptor type 6 |
|
ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
|
|
G |
Serpinf1 |
serpin family F member 1 |
disease_progression |
ISO |
mRNA, protein:decreased expression:skin of body (human) |
RGD |
PMID:23569025 |
RGD:27226706 |
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
|
|
G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
|
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G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
|
|
G |
Tlr3 |
toll-like receptor 3 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
|
|
G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
|
|
G |
Tlr7 |
toll-like receptor 7 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754
|
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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:27,091,780...27,116,092
Ensembl chr X:27,091,778...27,116,549
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G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:increased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
|
|
G |
Tnfrsf18 |
TNF receptor superfamily member 18 |
|
ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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G |
Antxr2 |
ANTXR cell adhesion molecule 2 |
|
IDA |
|
RGD |
PMID:17054395 |
RGD:1599126 |
NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094
|
|
G |
Elane |
elastase, neutrophil expressed |
|
ISO |
protein:increased expression:plasma: |
RGD |
PMID:19049643 |
RGD:10450550 |
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
|
|
G |
Il1b |
interleukin 1 beta |
disease_progression |
ISO |
mRNA:decreased expression:multiple (mouse) |
RGD |
PMID:19075243 |
RGD:40902812 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Rnasel |
ribonuclease L |
severity |
ISO |
|
RGD |
PMID:19075243 |
RGD:40902812 |
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
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|
G |
Tnf |
tumor necrosis factor |
disease_progression |
ISO |
protein:decreased expression:multiple (mouse) |
RGD |
PMID:19075243 |
RGD:40902812 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
|
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G |
Ace |
angiotensin I converting enzyme |
|
ISO |
associated with Cerebrovascular Accident |
RGD |
PMID:14990394 |
RGD:4140926 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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|
G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
|
IEP |
|
RGD |
PMID:19515386 |
RGD:4891456 |
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
|
IEP |
|
RGD |
PMID:19515386 |
RGD:4891456 |
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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G |
Edn1 |
endothelin 1 |
|
IEP |
protein:increased secretion:plasma (rat) |
RGD |
PMID:19262391 |
RGD:4145069 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Il1a |
interleukin 1 alpha |
|
IEP |
protein:increased expression:Bronchoalveolar Lavage Fluid |
RGD |
PMID:18042282 |
RGD:4142854 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Nos2 |
nitric oxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15607125 |
|
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
|
|
G |
Tnf |
tumor necrosis factor |
|
IEP |
protein:increased expression:Bronchoalveolar Lavage Fluid |
RGD |
PMID:18042282 |
RGD:4142854 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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|
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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 chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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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 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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G |
Cfh |
complement factor H |
|
ISO |
associated with Meningococcal Infections; |
RGD |
PMID:22104107 |
RGD:7364945 |
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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|
G |
Cish |
cytokine inducible SH2-containing protein |
susceptibility |
ISO |
ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:20484391 |
|
NCBI chr 8:107,972,306...107,977,254
Ensembl chr 8:107,972,306...107,977,250
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|
G |
Cpb2 |
carboxypeptidase B2 |
|
IEP |
protein:decreased activity:plasma |
RGD |
PMID:17911187 |
RGD:2313646 |
NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
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|
G |
Crp |
C-reactive protein |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:18443549 |
RGD:9491402 |
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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|
G |
Csf2 |
colony stimulating factor 2 |
treatment |
ISO |
|
RGD |
PMID:2192004 |
RGD:10449532 |
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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|
G |
Fcgr2a |
Fc gamma receptor 2A |
|
ISO |
associated with Pneumonia;DNA:SNP: :p.H131R (rs1801274) (human) |
RGD |
PMID:21317643 |
RGD:5147986 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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|
G |
Hmgcr |
3-hydroxy-3-methylglutaryl-CoA reductase |
severity |
ISO |
|
RGD |
PMID:11565076 |
RGD:5508478 |
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
mRNA:increased expression:lung,thymus,spleen: |
RGD |
PMID:24891762 |
RGD:11354979 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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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 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il27 |
interleukin 27 |
|
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:26514771 |
RGD:126790515 |
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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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 chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708
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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 8:107,929,754...107,963,638
Ensembl chr 8:107,929,762...107,963,568
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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 1:228,016,439...228,024,736
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
severity |
ISO |
associated with Staphylococcal Infections; |
RGD |
PMID:24086711 |
RGD:13204726 |
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Plat |
plasminogen activator, tissue type |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:1430592 |
|
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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|
G |
Plaur |
plasminogen activator, urokinase receptor |
severity |
ISO |
|
RGD |
PMID:21332843 |
RGD:6483799 |
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
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|
G |
Serpinc1 |
serpin family C member 1 |
treatment |
ISO |
|
RGD |
PMID:2679067 |
RGD:11035251 |
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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|
G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
mRNA:increased expression:liver: |
RGD |
PMID:24253037 |
RGD:26923958 |
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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|
G |
Tirap |
TIR domain containing adaptor protein |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bacteremia, susceptibility to, 1 |
CTD ClinVar OMIM |
PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868 |
|
NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432
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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 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Muc1 |
mucin 1, cell surface associated |
|
ISO |
|
RGD |
PMID:10359313 |
RGD:7349379 |
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23661603 |
|
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Jak2 |
Janus kinase 2 |
|
ISO |
protein:increased expression:stomach (human) |
RGD |
PMID:24718681 |
RGD:126928128 |
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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G |
Mir146a |
microRNA 146a |
|
ISO |
associated with Helicobacter Infections;miRNA:increased expression:mucosa of stomach (human) |
RGD |
PMID:30535468 |
RGD:126925144 |
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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G |
Mir375 |
microRNA 375 |
|
ISO |
protein:decreased expression:stomach (human) |
RGD |
PMID:24718681 |
RGD:126928128 |
NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985
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G |
Trem1 |
triggering receptor expressed on myeloid cells 1 |
|
ISO |
mRNA,protein:increased expression:gastric epithelium |
RGD |
PMID:18321350 |
RGD:126928123 |
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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G |
Il1r1 |
interleukin 1 receptor type 1 |
|
ISO |
associated with Serratia Infections; |
RGD |
PMID:23033384 |
RGD:8662876 |
NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
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G |
Ly96 |
lymphocyte antigen 96 |
|
ISO |
associated with Serratia Infections; |
RGD |
PMID:23033384 |
RGD:8662876 |
NCBI chr 5:2,582,233...2,612,357
Ensembl chr 5:2,582,254...2,612,386
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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 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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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 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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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 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tlr5 |
toll-like receptor 5 |
|
ISO |
associated with Serratia Infections; |
RGD |
PMID:23033384 |
RGD:8662876 |
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
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|
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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 chr13:31,616,278...31,648,521
Ensembl chr13:31,616,278...31,648,521
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G |
Ache |
acetylcholinesterase |
|
ISO |
|
RGD |
PMID:21303225 |
RGD:5688130 |
NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651
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G |
Bche |
butyrylcholinesterase |
|
ISO |
protein:increased expression:blood |
RGD |
PMID:21303225 |
RGD:5688130 |
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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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 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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G |
Cd46 |
CD46 molecule |
|
ISO |
|
RGD |
PMID:16948860 |
RGD:6483465 |
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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|
G |
Chi3l1 |
chitinase 3 like 1 |
severity |
ISO |
protein:increased secretion:cerebrospinal fluid (human) |
RGD |
PMID:11986266 |
RGD:4892662 |
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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|
G |
Crp |
C-reactive protein |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:6122844 |
RGD:9491388 |
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
|
RGD |
PMID:10430840 |
RGD:8547971 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
|
|
G |
Ngf |
nerve growth factor |
|
IEP |
mRNA:decreased expression:hippocampus: |
RGD |
PMID:22683802 |
RGD:8655554 |
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
|
|
G |
Ntrk2 |
neurotrophic receptor tyrosine kinase 2 |
|
ISO |
mRNA, protein:increased expression:hippocampus |
RGD |
PMID:16141791 |
RGD:5684920 |
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
|
|
G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
susceptibility |
ISO |
DNA:snp:cds:p.V762A rs1136410 (human) |
RGD |
PMID:21651918 |
RGD:5683901 |
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
|
|
G |
S100b |
S100 calcium binding protein B |
|
ISO |
protein:increased expression:cerebrospinal fluid |
RGD |
PMID:15105355 |
RGD:5508818 |
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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|
G |
Trem1 |
triggering receptor expressed on myeloid cells 1 |
disease_progression |
ISO |
|
RGD |
PMID:16786330 |
RGD:126928126 |
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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|
G |
Abcc1 |
ATP binding cassette subfamily C member 1 |
|
ISO |
|
RGD |
PMID:11238654 |
RGD:5128828 |
NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
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|
G |
Ace2 |
angiotensin converting enzyme 2 |
|
ISO |
associated with Pseudomonas Infections;mRNA, protein:altered expression, altered activity:lung (mouse) |
RGD |
PMID:31645418 |
RGD:40818279 |
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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|
G |
Ager |
advanced glycosylation end product-specific receptor |
severity |
ISO |
|
RGD |
PMID:21629785 |
RGD:6767559 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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|
G |
C3 |
complement C3 |
|
ISO |
|
RGD |
PMID:16014897 |
RGD:5129508 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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|
G |
C3ar1 |
complement C3a receptor 1 |
|
ISO |
|
RGD |
PMID:16461429 |
RGD:5129690 |
NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701
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G |
C5 |
complement C5 |
|
ISO |
|
RGD |
PMID:17975174 |
RGD:5129707 |
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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|
G |
Cat |
catalase |
|
IDA |
protein:decreased expression:lung, plasma |
RGD |
PMID:19842849 |
RGD:5130748 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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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 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO |
|
RGD |
PMID:20042590 |
RGD:4891443 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl4 |
C-C motif chemokine ligand 4 |
|
ISO |
|
RGD |
PMID:20483921 |
RGD:5130905 |
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
|
ISO |
|
RGD |
PMID:20042590 |
RGD:4891443 |
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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G |
Ccr7 |
C-C motif chemokine receptor 7 |
|
ISO |
|
RGD |
PMID:20176793 |
RGD:5130918 |
NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309
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G |
Cd14 |
CD14 molecule |
|
ISO |
|
RGD |
PMID:16210672 |
RGD:4144197 |
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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G |
Cd40 |
CD40 molecule |
|
ISO |
|
RGD |
PMID:20102413 |
RGD:5132268 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd80 |
Cd80 molecule |
|
ISO |
|
RGD |
PMID:20949109 |
RGD:4892562 |
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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G |
Chuk |
component of inhibitor of nuclear factor kappa B kinase complex |
|
ISO |
|
RGD |
PMID:18643924 |
RGD:5133701 |
NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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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 chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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G |
Csf3r |
colony stimulating factor 3 receptor |
disease_progression |
ISO |
|
RGD |
PMID:17185469 |
RGD:5133739 |
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
|
ISO IEP |
|
RGD |
PMID:21723409 PMID:11052817 |
RGD:5135062, RGD:5135234 |
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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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 chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Cxcl11 |
C-X-C motif chemokine ligand 11 |
|
ISO |
|
RGD |
PMID:15618188 |
RGD:5135459 |
NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271
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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 chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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G |
Cxcl3 |
C-X-C motif chemokine ligand 3 |
|
IEP |
|
RGD |
PMID:11052817 |
RGD:5135234 |
NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511
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G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
|
ISO |
|
RGD |
PMID:19846873 |
RGD:4145490 |
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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|
G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
|
ISO |
|
RGD |
PMID:15618188 |
RGD:5135459 |
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
|
ISO |
|
RGD |
PMID:15618188 |
RGD:5135459 |
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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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 5:111,179,981...111,207,490
Ensembl chr 5:111,178,703...111,244,794
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G |
Defb4 |
defensin beta 4 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:10213993 |
RGD:4892266 |
NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665
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G |
Defb5 |
defensin beta 5 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:10213993 |
RGD:4892266 |
NCBI chr16:70,612,985...70,615,389
Ensembl chr16:70,613,146...70,615,467
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G |
F2 |
coagulation factor II, thrombin |
|
IEP |
protein:increased expression:lung |
RGD |
PMID:21897338 |
RGD:6893486 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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G |
Fcgr2a |
Fc gamma receptor 2A |
|
ISO |
|
RGD |
PMID:17975174 |
RGD:5129707 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Foxp3 |
forkhead box P3 |
severity |
ISO |
|
RGD |
PMID:25398094 |
RGD:38501102 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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|
G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
exacerbates |
ISO |
associated with Escherichia Coli Infections |
RGD |
PMID:27845343 |
RGD:42722624 |
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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|
G |
Grk2 |
G protein-coupled receptor kinase 2 |
|
ISO |
mRNA:decreased expression:polymorphonuclear leukocyte |
RGD |
PMID:24465168 |
RGD:126848796 |
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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|
G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
protein:increased expression:lung (mouse) |
RGD |
PMID:19846873 |
RGD:4145490 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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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 chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
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|
G |
Ifng |
interferon gamma |
severity |
ISO |
|
RGD |
PMID:25398094 |
RGD:38501102 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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|
G |
Il10 |
interleukin 10 |
severity |
ISO |
|
RGD |
PMID:25398094 |
RGD:38501102 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il15 |
interleukin 15 |
|
ISO |
|
RGD |
PMID:17911627 |
RGD:5000754 |
NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820
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G |
Il17a |
interleukin 17A |
severity |
ISO |
|
RGD |
PMID:18802100 PMID:25398094 |
RGD:4889153, RGD:38501102 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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|
G |
Il18 |
interleukin 18 |
|
ISO |
|
RGD |
PMID:17664259 |
RGD:4889913 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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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 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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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 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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|
G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
|
RGD |
PMID:18596024 PMID:18322242 |
RGD:4143205, RGD:4143206 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il22 |
interleukin 22 |
|
ISO |
|
RGD |
PMID:21178015 |
RGD:5147404 |
NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186
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|
G |
Il6 |
interleukin 6 |
severity |
ISO |
|
RGD |
PMID:25398094 |
RGD:38501102 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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|
G |
Irak3 |
interleukin-1 receptor-associated kinase 3 |
|
ISO |
|
RGD |
PMID:28120642 PMID:20439918 |
RGD:34888234, RGD:36049799 |
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
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|
G |
Irf1 |
interferon regulatory factor 1 |
|
ISO |
|
RGD |
PMID:11854220 |
RGD:5128725 |
NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166
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|
G |
Irf3 |
interferon regulatory factor 3 |
|
ISO |
|
RGD |
PMID:20720199 |
RGD:4891951 |
NCBI chr 1:95,479,966...95,484,926
Ensembl chr 1:95,479,821...95,484,935
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|
G |
Itgb3 |
integrin subunit beta 3 |
|
IEP |
protein:increased expression:lung, neutrophil |
RGD |
PMID:15114484 |
RGD:4993468 |
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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G |
Lep |
leptin |
|
ISO |
|
RGD |
PMID:11937559 |
RGD:5128871 |
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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|
G |
Mapk8 |
mitogen-activated protein kinase 8 |
severity |
ISO |
associated with Escherichia Coli Infections |
RGD |
PMID:22514650 |
RGD:150340681 |
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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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 1:228,016,439...228,024,736
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G |
Mc1r |
melanocortin 1 receptor |
|
ISO |
|
RGD |
PMID:18304533 |
RGD:5687324 |
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Mpo |
myeloperoxidase |
|
ISO |
protein:increased activity:bronchoalveolar lavage Fluid: |
RGD |
PMID:11269653 |
RGD:5130992 |
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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|
G |
Nod1 |
nucleotide-binding oligomerization domain containing 1 |
|
ISO |
|
RGD |
PMID:19360122 |
RGD:5131449 |
NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
|
ISO |
|
RGD |
PMID:19360122 |
RGD:5131449 |
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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|
G |
Pdpn |
podoplanin |
|
IEP |
protein:increased expression:lung |
RGD |
PMID:7864138 |
RGD:2292375 |
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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|
G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
|
IEP |
protein:decreased expression:lung |
RGD |
PMID:12524254 |
RGD:724645 |
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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|
G |
Pgf |
placental growth factor |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:16702604 |
RGD:6483601 |
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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|
G |
Pten |
phosphatase and tensin homolog |
ameliorates |
ISO |
myeloid knockout |
RGD |
PMID:21527775 |
RGD:127285594 |
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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|
G |
Ripk3 |
receptor-interacting serine-threonine kinase 3 |
ameliorates |
ISO |
|
RGD |
PMID:28387756 |
RGD:127229944 |
NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
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|
G |
Rorc |
RAR-related orphan receptor C |
severity |
ISO |
|
RGD |
PMID:25398094 |
RGD:38501102 |
NCBI chr 2:182,009,707...182,034,910
Ensembl chr 2:182,009,286...182,034,907
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|
G |
Serpine1 |
serpin family E member 1 |
severity |
ISO |
|
RGD |
PMID:17032919 |
RGD:4144840 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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|
G |
Sftpa1 |
surfactant protein A1 |
|
IEP |
protein:increased expression:lung |
RGD |
PMID:12169586 |
RGD:4143464 |
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
|
|
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 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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|
G |
Sftpc |
surfactant protein C |
|
ISO IEP |
|
RGD |
PMID:18566429 PMID:12169586 |
RGD:4144114, RGD:4143464 |
NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
|
|
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 chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
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|
G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
|
RGD |
PMID:18192501 |
RGD:6892945 |
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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|
G |
Tgfb1 |
transforming growth factor, beta 1 |
severity |
ISO |
|
RGD |
PMID:25398094 |
RGD:38501102 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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|
G |
Tlr2 |
toll-like receptor 2 |
|
ISO IDA |
|
RGD |
PMID:18768871 PMID:19844782 |
RGD:4145337, RGD:4889533 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
|
|
G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
|
RGD |
PMID:20650991 PMID:16210672 |
RGD:4144172, RGD:4144197 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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|
G |
Tlr5 |
toll-like receptor 5 |
|
ISO |
|
RGD |
PMID:19801452 |
RGD:5129503 |
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
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|
G |
Tlr6 |
toll-like receptor 6 |
|
IDA |
|
RGD |
PMID:19844782 |
RGD:4889533 |
NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685
|
|
G |
Tlr9 |
toll-like receptor 9 |
|
ISO |
|
RGD |
PMID:20360853 |
RGD:5130719 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
|
|
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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
|
|
G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
ISO |
protein:increased expression:serum (mouse) |
RGD |
PMID:19842848 |
RGD:5131429 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Tnfrsf1b |
TNF receptor superfamily member 1B |
|
ISO |
protein:increased expression:serum (mouse) |
RGD |
PMID:19842848 |
RGD:5131429 |
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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G |
Trem1 |
triggering receptor expressed on myeloid cells 1 |
severity ameliorates |
ISO IDA |
|
RGD |
PMID:24465168 PMID:16960786 PMID:22996209 |
RGD:126848796, RGD:127229902, RGD:126925987 |
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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G |
Zc3h12a |
zinc finger CCCH type containing 12A |
|
ISO |
associated with Pseudomonas Infections |
RGD |
PMID:29695841 |
RGD:39938967 |
NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351
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G |
Trem1 |
triggering receptor expressed on myeloid cells 1 |
treatment ameliorates exacerbates |
ISO IDA |
associated with bacterial pneumonia |
RGD |
PMID:21507332 PMID:16960786 PMID:17230441 |
RGD:126925982, RGD:127229902, RGD:126928125 |
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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G |
Mbl2 |
mannose binding lectin 2 |
|
ISO |
DNA:SNP:cds: |
RGD |
PMID:17470593 |
RGD:8693700 |
NCBI chr 1:228,016,439...228,024,736
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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 chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
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G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
|
ISO |
associated with Influenza |
RGD |
PMID:20065113 |
RGD:5134984 |
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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G |
C3 |
complement C3 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:3361150 |
RGD:11041575 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
Cfb |
complement factor B |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:3361150 |
RGD:11041575 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
|
RGD |
PMID:14507644 |
RGD:5135450 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
|
ISO |
|
RGD |
PMID:14507644 |
RGD:5135450 |
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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G |
Il23a |
interleukin 23 subunit alpha |
|
ISO |
|
RGD |
PMID:16923792 |
RGD:39457937 |
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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G |
Il4 |
interleukin 4 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17387165 |
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NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Birc2 |
baculoviral IAP repeat-containing 2 |
|
ISO |
mRNA:increased expression:perianal skin (human) |
RGD |
PMID:20346172 |
RGD:152998971 |
NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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G |
Birc3 |
baculoviral IAP repeat-containing 3 |
|
ISO |
mRNA:increased expression:perianal skin (human) |
RGD |
PMID:20346172 |
RGD:152998971 |
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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G |
Cd163 |
CD163 molecule |
treatment |
ISO |
|
RGD |
PMID:32069255 |
RGD:149735531 |
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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G |
Ifng |
interferon gamma |
treatment |
ISO |
|
RGD |
PMID:27916101 |
RGD:14974260 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Npc1 |
NPC intracellular cholesterol transporter 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12183525 |
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NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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G |
Pde4a |
phosphodiesterase 4A |
|
IEP |
mRNA:decreased expression:spleen |
RGD |
PMID:17397885 |
RGD:2302429 |
NCBI chr 8:19,690,816...19,753,538
Ensembl chr 8:19,703,290...19,751,961
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G |
Prdx5 |
peroxiredoxin 5 |
|
ISO |
mRNA:increased expression:spleen (mouse) |
RGD |
PMID:31196623 |
RGD:41404681 |
NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268
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G |
Sting1 |
stimulator of interferon response cGAMP interactor 1 |
|
ISO |
|
RGD |
PMID:29203515 PMID:30894428 |
RGD:39128199, RGD:39128234 |
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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G |
Slc11a1 |
solute carrier family 11 member 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Buruli ulcer, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:16395392 |
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NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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G |
Il23a |
interleukin 23 subunit alpha |
|
ISO |
|
RGD |
PMID:27322540 PMID:27385977 |
RGD:39457954, RGD:39458040 |
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
treatment |
ISO |
|
RGD |
PMID:23180818 |
RGD:38599193 |
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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G |
Slc11a1 |
solute carrier family 11 member 1 |
|
ISO |
|
RGD |
PMID:18656410 |
RGD:5684976 |
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
|
ISO |
|
RGD |
PMID:16118671 |
RGD:8549760 |
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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G |
Cd40 |
CD40 molecule |
|
ISO |
|
RGD |
PMID:20102413 |
RGD:5132268 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Foxp3 |
forkhead box P3 |
treatment |
ISO |
|
RGD |
PMID:30832593 |
RGD:38455984 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
mRNA:increased expression:lung (mouse) |
RGD |
PMID:19728926 |
RGD:4145507 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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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 chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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G |
Ifng |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19203382 |
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NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Il13 |
interleukin 13 |
|
ISO |
|
RGD |
PMID:21573182 |
RGD:5684365 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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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 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Mir21 |
microRNA 21 |
|
ISO |
associated with asthma;RNA:increased expression:lung |
RGD |
PMID:27448447 |
RGD:41404696 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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G |
Tgfb1 |
transforming growth factor, beta 1 |
treatment |
ISO |
|
RGD |
PMID:30832593 |
RGD:38455984 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tnf |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19203382 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Cd274 |
CD274 molecule |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:26378990 |
RGD:41412180 |
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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G |
Pdcd1 |
programmed cell death 1 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:26378990 |
RGD:41412180 |
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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G |
Pik3cd |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta |
severity |
ISO |
|
RGD |
PMID:29893841 |
RGD:40890270 |
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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G |
Cd1d1 |
CD1d1 molecule |
|
ISO |
|
RGD |
PMID:23999314 |
RGD:127345116 |
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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G |
Plac8 |
placenta associated 8 |
severity exacerbates |
ISO |
|
RGD |
PMID:22238459 PMID:22238459 |
RGD:40925930, RGD:40925930 |
NCBI chr14:9,052,601...9,074,264
Ensembl chr14:9,063,048...9,074,264
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G |
Pten |
phosphatase and tensin homolog |
|
ISO |
associated with Experimental Allergic Asthma;mRNA:decreased expression:lung (mouse) |
RGD |
PMID:27448447 |
RGD:41404696 |
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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G |
Hdc |
histidine decarboxylase |
|
ISO |
|
RGD |
PMID:14556983 |
RGD:5143922 |
NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341
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G |
Lcn2 |
lipocalin 2 |
exacerbates |
ISO |
|
RGD |
PMID:23317919 |
RGD:126781720 |
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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G |
Mmp14 |
matrix metallopeptidase 14 |
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IEP |
|
RGD |
PMID:12526080 |
RGD:1582580 |
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
|
RGD |
PMID:12526080 |
RGD:1582580 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Duox2 |
dual oxidase 2 |
treatment |
ISO |
|
RGD |
PMID:29133347 |
RGD:40925924 |
NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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G |
Mir155 |
microRNA 155 |
|
ISO |
miRNA:increased expression:duodenum |
RGD |
PMID:28319200 |
RGD:25314323 |
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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G |
Acyp2 |
acylphosphatase 2 |
|
ISO |
ClinVar Annotator: match by term: Chronic osteomyelitis |
ClinVar |
|
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NCBI chr14:104,201,894...104,371,415
Ensembl chr14:104,201,895...104,371,386
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G |
Il1r1 |
interleukin 1 receptor type 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
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NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
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G |
Mlkl |
mixed lineage kinase domain like pseudokinase |
|
ISO |
ClinVar Annotator: match by term: Chronic multifocal osteomyelitis |
ClinVar |
|
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NCBI chr19:39,277,526...39,304,555
Ensembl chr19:39,276,785...39,304,502
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G |
Mynn |
myoneurin |
|
ISO |
ClinVar Annotator: match by term: Chronic osteomyelitis |
ClinVar |
|
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NCBI chr 2:112,779,654...112,797,188
Ensembl chr 2:112,779,657...112,796,397
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G |
Pstpip2 |
proline-serine-threonine phosphatase-interacting protein 2 |
|
ISS |
OMIM:259680 |
MouseDO |
|
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NCBI chr18:71,310,387...71,396,752
Ensembl chr18:71,311,020...71,395,709
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G |
Tert |
telomerase reverse transcriptase |
|
ISO |
ClinVar Annotator: match by term: Chronic osteomyelitis |
ClinVar |
PMID:16890917 PMID:25741868 PMID:28492532 |
|
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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G |
Zbtb46 |
zinc finger and BTB domain containing 46 |
|
ISO |
ClinVar Annotator: match by term: Chronic osteomyelitis |
ClinVar |
|
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NCBI chr 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782
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G |
Il1f10 |
interleukin 1 family member 10 |
|
ISO |
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis |
ClinVar |
PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 PMID:28492532 More...
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NCBI chr 3:7,072,511...7,075,439
Ensembl chr 3:7,072,511...7,075,439
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G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis |
OMIM ClinVar |
PMID:9536098 PMID:12837270 PMID:16199547 PMID:16519819 PMID:17576681 PMID:19280228 PMID:19494218 PMID:19494219 PMID:19729864 PMID:20213597 PMID:20842532 PMID:21279638 PMID:21792839 PMID:22032624 PMID:22127713 PMID:22940634 PMID:23698098 PMID:24033266 PMID:24863340 PMID:25501066 PMID:25741868 PMID:26100510 PMID:28236224 PMID:28492532 PMID:32819369 More...
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NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il36rn |
interleukin 36 receptor antagonist |
|
ISO |
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis |
ClinVar |
PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 PMID:28492532 More...
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NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016
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G |
Nfkbia |
NFKB inhibitor alpha |
|
ISO |
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis |
ClinVar |
|
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NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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G |
Il1r1 |
interleukin 1 receptor type 1 |
|
ISO |
ClinVar Annotator: match by term: Chronic recurrent multifocal osteomyelitis 3 |
OMIM ClinVar |
|
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NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937
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G |
Il23a |
interleukin 23 subunit alpha |
severity |
ISO |
|
RGD |
PMID:26455347 |
RGD:11097134 |
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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G |
Il33 |
interleukin 33 |
treatment severity |
ISO |
|
RGD |
PMID:32156806 PMID:32156806 |
RGD:40400894, RGD:40400894 |
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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G |
Il27 |
interleukin 27 |
|
ISO |
associated with diarrhea;protein:increased expression:blood��serum, feces (human) |
RGD |
PMID:29140433 |
RGD:126790495 |
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
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G |
Marco |
macrophage receptor with collagenous structure |
exacerbates |
ISO |
|
RGD |
PMID:20810988 |
RGD:41412193 |
NCBI chr13:31,616,278...31,648,521
Ensembl chr13:31,616,278...31,648,521
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|
G |
Ccl2 |
C-C motif chemokine ligand 2 |
|
ISO |
ClinVar Annotator: match by term: Coronary artery disease, development of, in HIV |
ClinVar |
PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 PMID:25741868 More...
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NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ifna1 |
interferon, alpha 1 |
susceptibility |
ISO |
DNA:SNP:promoter: -1823G>A (rs1332190)(human) |
RGD |
PMID:26694082 |
RGD:36174029 |
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
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G |
Mbl2 |
mannose binding lectin 2 |
susceptibility |
ISO |
DNA:SNP:exon:p.G54D(rs1800450)(human) |
RGD |
PMID:15249448 |
RGD:8693755 |
NCBI chr 1:228,016,439...228,024,736
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G |
Muc5ac |
mucin 5AC, oligomeric mucus/gel-forming |
|
ISO |
protein:decreased expression:bronchiole epithelium |
RGD |
PMID:15364771 |
RGD:7364741 |
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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G |
Muc5b |
mucin 5B, oligomeric mucus/gel-forming |
|
ISO |
DNA:insertion/deletion |
RGD |
PMID:15709052 |
RGD:7349353 |
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
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G |
Mucl3 |
mucin like 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22152429 |
|
NCBI chr20:3,100,652...3,108,569
Ensembl chr20:3,100,679...3,108,569
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G |
Tap2 |
transporter 2, ATP binding cassette subfamily B member |
susceptibility |
ISO |
DNA:polymorphisms:exon: |
RGD |
PMID:10323341 |
RGD:5147847 |
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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G |
Casp3 |
caspase 3 |
treatment |
IEP |
|
RGD |
PMID:26920733 |
RGD:13782281 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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G |
Casp6 |
caspase 6 |
treatment |
IEP |
|
RGD |
PMID:26920733 |
RGD:13782281 |
NCBI chr 2:218,466,063...218,478,503
Ensembl chr 2:218,466,076...218,478,502
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G |
Casp7 |
caspase 7 |
treatment |
IEP |
|
RGD |
PMID:26920733 |
RGD:13782281 |
NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729
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G |
Casp9 |
caspase 9 |
treatment |
IEP |
|
RGD |
PMID:26920733 |
RGD:13782281 |
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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G |
Il1a |
interleukin 1 alpha |
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IEP |
protein:increased expression:endometrium |
RGD |
PMID:25330821 |
RGD:11059518 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Trem1 |
triggering receptor expressed on myeloid cells 1 |
ameliorates |
ISO |
|
RGD |
PMID:31365951 |
RGD:126928127 |
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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G |
Abcb11 |
ATP binding cassette subfamily B member 11 |
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IEP |
|
RGD |
PMID:9828229 |
RGD:1598596 |
NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
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IEP |
mRNA:decreased expression:liver (rat) |
RGD |
PMID:26977098 |
RGD:11041000 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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G |
Abcb1b |
ATP-binding cassette, sub-family B member 1B |
|
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20300455 PMID:9828229 |
RGD:1598596 |
NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199
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G |
Abcc2 |
ATP binding cassette subfamily C member 2 |
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IEP |
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RGD |
PMID:16572733 |
RGD:1598611 |
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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G |
Abcc8 |
ATP binding cassette subfamily C member 8 |
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IEP |
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RGD |
PMID:17285300 |
RGD:2301914 |
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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G |
Ace |
angiotensin I converting enzyme |
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IEP |
associated with Hemorrhage;protein:decreased activity:plasma (rat) |
RGD |
PMID:3028670 |
RGD:8142370 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Ache |
acetylcholinesterase |
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ISO |
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RGD |
PMID:17657467 |
RGD:5688055 |
NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651
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G |
Actc1 |
actin, alpha, cardiac muscle 1 |
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IEP |
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RGD |
PMID:11680626 |
RGD:1598729 |
NCBI chr 3:100,811,987...100,817,523
Ensembl chr 3:100,811,987...100,817,523
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G |
Adamts1 |
ADAM metallopeptidase with thrombospondin type 1 motif, 1 |
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IEP |
protein:increased expression:plasma, spleen |
RGD |
PMID:23025351 |
RGD:9681752 |
NCBI chr11:24,932,227...24,941,068
Ensembl chr11:24,931,761...24,941,103
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
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IEP |
associated with Obesity |
RGD |
PMID:23838384 |
RGD:8695926 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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G |
Adipor2 |
adiponectin receptor 2 |
severity |
IEP |
associated with obesity;mRNA:decreased expression:liver (rat) |
RGD |
PMID:23838384 |
RGD:8695926 |
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
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G |
Adra2a |
adrenoceptor alpha 2A |
onset |
IEP |
mRNA:increased expression:spleen |
RGD |
PMID:20302880 |
RGD:6480487 |
NCBI chr 1:253,061,480...253,064,280
Ensembl chr 1:253,060,218...253,064,365
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G |
Agtr2 |
angiotensin II receptor, type 2 |
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IEP |
protein:decreased expression:kidney |
RGD |
PMID:16725227 |
RGD:6903849 |
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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G |
Ahr |
aryl hydrocarbon receptor |
severity |
ISO |
|
RGD |
PMID:24930766 |
RGD:39939032 |
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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G |
Akp3 |
alkaline phosphatase 3, intestine, not Mn requiring |
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ISO |
|
RGD |
PMID:23569246 |
RGD:14349049 |
NCBI chr 9:87,804,680...87,808,715
Ensembl chr 9:87,804,749...87,807,913
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G |
Akt1 |
AKT serine/threonine kinase 1 |
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IEP |
|
RGD |
PMID:22824368 |
RGD:38676479 |
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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G |
Aldoa |
aldolase, fructose-bisphosphate A |
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IEP |
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RGD |
PMID:16930621 |
RGD:1599054 |
NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
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G |
Alox5 |
arachidonate 5-lipoxygenase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15328337 |
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NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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G |
Apoa1 |
apolipoprotein A1 |
treatment |
ISO IDA |
|
RGD |
PMID:18593575 PMID:23227448 |
RGD:7241573, RGD:7241868 |
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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G |
Apob |
apolipoprotein B |
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IEP |
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RGD |
PMID:16719989 |
RGD:1599165 |
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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G |
Apoe |
apolipoprotein E |
|
ISO |
rat model treated with human protein |
RGD |
PMID:9153287 |
RGD:6904216 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Asl |
argininosuccinate lyase |
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IEP |
|
RGD |
PMID:10652239 |
RGD:1599265 |
NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
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G |
Ass1 |
argininosuccinate synthase 1 |
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IEP |
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RGD |
PMID:10652239 |
RGD:1599265 |
NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903
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G |
Atf2 |
activating transcription factor 2 |
treatment |
IEP IDA |
protein:increased expression, increased activity:small intestine mucosa |
RGD |
PMID:21641970 PMID:24312512 |
RGD:5135029, RGD:10047418 |
NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
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G |
Atp5f1a |
ATP synthase F1 subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16741687 |
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NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
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G |
Bax |
BCL2 associated X, apoptosis regulator |
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IEP |
mRNA:increased expression:diaphragm |
RGD |
PMID:23940949 |
RGD:10054120 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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G |
Bche |
butyrylcholinesterase |
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ISO |
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RGD |
PMID:17657467 |
RGD:5688055 |
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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G |
Bcl2 |
BCL2, apoptosis regulator |
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IEP |
mRNA:decreased expression:diaphragm |
RGD |
PMID:23940949 |
RGD:10054120 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
C5ar1 |
complement C5a receptor 1 |
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IEP |
mRNA:increased expression:lung |
RGD |
PMID:9272704 |
RGD:70679 |
NCBI chr 1:76,948,622...76,959,826
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G |
Casp1 |
caspase 1 |
|
IMP |
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RGD |
PMID:17384935 |
RGD:2315892 |
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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G |
Casp3 |
caspase 3 |
|
IEP |
mRNA:increased expression:diaphragm |
RGD |
PMID:23940949 |
RGD:10054120 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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G |
Casp7 |
caspase 7 |
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ISO |
|
RGD |
PMID:19168786 |
RGD:5684539 |
NCBI chr 1:255,437,438...255,476,737
Ensembl chr 1:255,437,172...255,476,729
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G |
Casp9 |
caspase 9 |
treatment |
IEP |
|
RGD |
PMID:23214195 |
RGD:10400903 |
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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G |
Cbs |
cystathionine beta synthase |
severity |
ISO IEP |
mRNA:increased expression:liver (rat) Protein:increased expression:spleen, lung (mouse) |
RGD |
PMID:27748832 PMID:16100527 PMID:24702258 PMID:27748832 |
RGD:40903019, RGD:40903049, RGD:40903035, RGD:40903019 |
NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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IEP |
protein:increased expression:plasma |
RGD |
PMID:19060786 |
RGD:2307004 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
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IEP |
protein:increased expression:plasma |
RGD |
PMID:16215387 |
RGD:2307171 |
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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G |
Ccr1 |
C-C motif chemokine receptor 1 |
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ISO |
|
RGD |
PMID:17016504 |
RGD:5688178 |
NCBI chr 8:123,556,286...123,561,841
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G |
Cd14 |
CD14 molecule |
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IEP |
protein:increased expression:liver, endothelial cell of sinusoid |
RGD |
PMID:12046090 |
RGD:724637 |
NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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G |
Cd40 |
CD40 molecule |
|
ISO |
protein:decreased nitrosylation:macrophage |
RGD |
PMID:20473113 |
RGD:5490974 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cebpb |
CCAAT/enhancer binding protein beta |
treatment |
IEP ISO |
|
RGD |
PMID:15192048 PMID:14659593 |
RGD:1625687, RGD:40903034 |
NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
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G |
Cps1 |
carbamoyl-phosphate synthase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16741687 |
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NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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G |
Cs |
citrate synthase |
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IEP |
protein:increased expression:gastrocnemius |
RGD |
PMID:25674200 |
RGD:329337350 |
NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421
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G |
Csf3 |
colony stimulating factor 3 |
treatment |
ISO |
|
RGD |
PMID:9514298 |
RGD:11039535 |
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
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IEP |
protein:increased expression:atrium endocardium |
RGD |
PMID:19282612 |
RGD:4891965 |
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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G |
Cxcl1 |
C-X-C motif chemokine ligand 1 |
|
ISO |
mRNA:increased expression:multiple organs |
RGD |
PMID:9766630 |
RGD:5135254 |
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
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G |
Cxcl2 |
C-X-C motif chemokine ligand 2 |
|
ISO |
mRNA:increased expression:multiple organs |
RGD |
PMID:9766630 |
RGD:5135254 |
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
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ISO |
mRNA:increased expression:multiple organs |
RGD |
PMID:9766630 |
RGD:5135254 |
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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G |
Edn1 |
endothelin 1 |
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IEP |
mRNA, protein:increased expression:liver (rat) |
RGD |
PMID:11206318 |
RGD:8662297 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Ep300 |
E1A binding protein p300 |
|
IEP |
associated with Kidney Reperfusion Injury; protein:altered localization:kidney (rat) |
RGD |
PMID:23936185 |
RGD:7257563 |
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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G |
Ephx2 |
epoxide hydrolase 2 |
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ISO |
|
RGD |
PMID:19154430 |
RGD:5688360 |
NCBI chr15:40,289,901...40,327,632
Ensembl chr15:40,289,902...40,327,615
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G |
Epo |
erythropoietin |
treatment |
ISO |
|
RGD |
PMID:23214195 |
RGD:10400903 |
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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G |
F12 |
coagulation factor XII |
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IEP |
|
RGD |
PMID:11092686 |
RGD:7394782 |
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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G |
F2 |
coagulation factor II, thrombin |
treatment severity |
IDA ISO IEP |
associated with liver cirrhosis;protein:increased expression:blood plasma (human) associated with liver cirrhosis;protein:increased expression:plasma (human) |
RGD |
PMID:21396682 PMID:10604885 PMID:7615203 PMID:10887118 PMID:9863491 PMID:25396762 PMID:22227956 PMID:20519137 More...
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RGD:5147765, RGD:40818436, RGD:14974253, RGD:40818427, RGD:14401592, RGD:10449434, RGD:6893482, RGD:5147779 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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G |
F3 |
coagulation factor III, tissue factor |
treatment |
IDA ISO |
associated with Protein C Deficiency |
RGD |
PMID:21396682 PMID:20858853 PMID:8956768 |
RGD:5147765, RGD:11341685, RGD:11340208 |
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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G |
F5 |
coagulation factor V |
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IEP |
|
RGD |
PMID:11092686 |
RGD:7394782 |
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
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G |
F7 |
coagulation factor VII |
treatment |
IEP ISO |
|
RGD |
PMID:11092686 PMID:16378835 |
RGD:7394782, RGD:11041650 |
NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610
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G |
F8 |
coagulation factor VIII |
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IEP |
|
RGD |
PMID:11092686 |
RGD:7394782 |
NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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G |
Fas |
Fas cell surface death receptor |
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IEP |
mRNA, protein:increased expression:spleen (rat) |
RGD |
PMID:20428798 |
RGD:8662930 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Fga |
fibrinogen alpha chain |
treatment |
IDA |
|
RGD |
PMID:19295478 |
RGD:11040925 |
NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528
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G |
Foxp3 |
forkhead box P3 |
|
IEP |
protein:increased expression:intestinal mucosa |
RGD |
PMID:19998507 |
RGD:38455980 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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G |
Gch1 |
GTP cyclohydrolase 1 |
treatment |
IEP |
mRNA:increased expression:lung associated with liver cirrhosis |
RGD |
PMID:9388472 PMID:16845913 PMID:14647062 |
RGD:329961576, RGD:401793756, RGD:401700399 |
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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G |
Gfer |
growth factor, augmenter of liver regeneration |
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IEP |
|
RGD |
PMID:23073658 |
RGD:9685733 |
NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
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G |
Ghr |
growth hormone receptor |
|
IEP |
mRNA:decreased expression:liver |
RGD |
PMID:12654216 PMID:12217886 |
RGD:2307380, RGD:625688 |
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
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G |
Gpt |
glutamic--pyruvic transaminase |
treatment |
IEP |
|
RGD |
PMID:25514429 |
RGD:401717525 |
NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494
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G |
Gsr |
glutathione-disulfide reductase |
treatment |
IEP |
|
RGD |
PMID:25469663 |
RGD:10401928 |
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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G |
Hmgb1 |
high mobility group box 1 |
|
IEP |
protein:increased expression:heart, serum |
RGD |
PMID:18503231 |
RGD:10402065 |
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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G |
Hmox1 |
heme oxygenase 1 |
treatment |
IEP |
|
RGD |
PMID:21396999 |
RGD:10755715 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Hsf1 |
heat shock transcription factor 1 |
treatment |
IDA |
|
RGD |
PMID:25571843 |
RGD:10402404 |
NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
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G |
Hspa9 |
heat shock protein family A (Hsp70) member 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16741687 |
|
NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
|
IEP ISO |
mRNA, protein:increased expression:medulla oblongata CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16741687 PMID:16675490 |
RGD:1624232 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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G |
Icam1 |
intercellular adhesion molecule 1 |
|
IEP |
protein:increased expression:lung (rat) |
RGD |
PMID:19776691 |
RGD:4145502 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Ido1 |
indoleamine 2,3-dioxygenase 1 |
|
ISO |
|
RGD |
PMID:24930766 PMID:28077574 |
RGD:39939032, RGD:39939117 |
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
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G |
Ido2 |
indoleamine 2,3-dioxygenase 2 |
|
ISO |
|
RGD |
PMID:24930766 |
RGD:39939032 |
NCBI chr16:67,459,158...67,498,052
Ensembl chr16:67,459,190...67,496,324
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G |
Ifng |
interferon gamma |
|
IEP |
protein:increased expression:serum: |
RGD |
PMID:9195172 |
RGD:10755747 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Igf1 |
insulin-like growth factor 1 |
|
IEP |
mRNA, protein:decreased expression:liver, serum |
RGD |
PMID:18492809 PMID:12217886 |
RGD:10402757, RGD:625688 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
|
|
G |
Igfals |
insulin-like growth factor binding protein, acid labile subunit |
|
IEP |
|
RGD |
PMID:12217886 |
RGD:625688 |
NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
|
|
G |
Igfbp1 |
insulin-like growth factor binding protein 1 |
|
IEP |
|
RGD |
PMID:12217886 |
RGD:625688 |
NCBI chr14:82,047,415...82,052,482
Ensembl chr14:82,047,415...82,052,482
|
|
G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
|
IEP |
mRNA, protein:decreased expression:liver, serum |
RGD |
PMID:18492809 |
RGD:10402757 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
|
|
G |
Igfbp5 |
insulin-like growth factor binding protein 5 |
|
IEP |
|
RGD |
PMID:12217886 |
RGD:625688 |
NCBI chr 9:74,452,371...74,464,953
Ensembl chr 9:74,448,382...74,465,156
|
|
G |
Il10 |
interleukin 10 |
treatment |
IEP ISO |
protein:increased expression:plasma |
RGD |
PMID:19302852 PMID:27943364 PMID:28664613 |
RGD:2311055, RGD:14975170, RGD:14975137 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
|
|
G |
Il13 |
interleukin 13 |
treatment |
ISO |
|
RGD |
PMID:10674721 |
RGD:8549626 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
|
|
G |
Il1a |
interleukin 1 alpha |
|
ISO IEP |
protein:increased expression:plasma |
RGD |
PMID:9636192 PMID:22426124 |
RGD:6907109, RGD:7794786 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
|
|
G |
Il1b |
interleukin 1 beta |
|
IEP |
protein:increased expression:plasma |
RGD |
PMID:17201737 |
RGD:1626625 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
|
|
G |
Il1rn |
interleukin 1 receptor antagonist |
treatment |
IEP ISO |
mRNA:increased expression:lung, spleen, liver (rat) |
RGD |
PMID:1385928 PMID:8855299 |
RGD:8551846, RGD:11522760 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
|
|
G |
Il6 |
interleukin 6 |
|
IDA IEP |
associated with Diabetes Mellitus, Experimental; Protein:increased expression:extracellular space (rat) protein:increased expression:serum (rat) |
RGD |
PMID:19449282 PMID:22227956 PMID:21396682 |
RGD:2307179, RGD:6893482, RGD:5147765 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
|
|
G |
Irak3 |
interleukin-1 receptor-associated kinase 3 |
|
ISO |
mRNA, protein:increased expression:blood (human) |
RGD |
PMID:17982103 |
RGD:36049802 |
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
|
|
G |
Irs1 |
insulin receptor substrate 1 |
|
ISO |
protein:increased tyrosine nitration, decreased tyrosine phosphorylation:skeletal muscle |
RGD |
PMID:21206533 |
RGD:6483008 |
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
|
|
G |
Itga2b |
integrin subunit alpha 2b |
|
IMP |
|
RGD |
PMID:15280099 |
RGD:2316360 |
NCBI chr10:87,408,532...87,426,055
Ensembl chr10:87,408,536...87,426,168
|
|
G |
Itgb3 |
integrin subunit beta 3 |
|
IMP |
|
RGD |
PMID:15280099 |
RGD:2316360 |
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
|
|
G |
Keap1 |
Kelch-like ECH-associated protein 1 |
|
ISO |
|
RGD |
PMID:22609006 |
RGD:6892951 |
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
|
|
G |
Lbp |
lipopolysaccharide binding protein |
treatment |
IEP ISO |
mRNA:increased expression:hepatocyte |
RGD |
PMID:8418776 PMID:8593028 PMID:16307218 |
RGD:9685191, RGD:9685196, RGD:9685193 |
NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586
|
|
G |
Lcn2 |
lipocalin 2 |
|
ISO |
mRNA:increased expression:brain,liver |
RGD |
PMID:21943033 |
RGD:126779582 |
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
|
|
G |
Map2 |
microtubule-associated protein 2 |
|
ISO |
mRNA, protein:decreased expression:neuron |
RGD |
PMID:21421895 |
RGD:6483086 |
NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
|
|
G |
Mapk14 |
mitogen activated protein kinase 14 |
treatment |
IEP IDA |
protein:increased activity:small intestine mucosa |
RGD |
PMID:21641970 PMID:24312512 |
RGD:5135029, RGD:10047418 |
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
|
|
G |
Mapk8 |
mitogen-activated protein kinase 8 |
|
IEP |
protein:increased phophorylation:hippocampus (rat) |
RGD |
PMID:12207162 |
RGD:150340687 |
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
|
|
G |
Mc4r |
melanocortin 4 receptor |
|
IEP |
mRNA:increased expression:paraventricular nucleus (rat) |
RGD |
PMID:21343543 |
RGD:6484214 |
NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
|
|
G |
Mif |
macrophage migration inhibitory factor |
|
IEP |
protein:increased expression:plasma |
RGD |
PMID:16601957 |
RGD:1641983 |
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
|
|
G |
Mir146a |
microRNA 146a |
treatment |
ISO |
miRNA:increased expression:spleen (mouse) |
RGD |
PMID:30867482 |
RGD:34888227 |
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
|
|
G |
Mir155 |
microRNA 155 |
treatment |
ISO |
associated with familial hyperlipidemia |
RGD |
PMID:28970282 PMID:28264607 PMID:29079998 PMID:29979224 |
RGD:21079445, RGD:24922204, RGD:21081539, RGD:21081538 |
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
|
|
G |
Mme |
membrane metallo-endopeptidase |
severity |
IMP |
|
RGD |
PMID:11078421 |
RGD:13801040 |
NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792
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|
G |
Mmp3 |
matrix metallopeptidase 3 |
|
IEP |
|
RGD |
PMID:17083784 |
RGD:2290426 |
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
|
|
G |
Mt2A |
metallothionein 2A |
|
IEP |
mRNA:increased expression:liver (rat) |
RGD |
PMID:22100509 |
RGD:6483852 |
NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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|
G |
Mt3 |
metallothionein 3 |
|
IEP |
|
RGD |
PMID:12135776 |
RGD:10412330 |
NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
|
|
G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
|
IEP |
|
RGD |
PMID:19099858 |
RGD:7349370 |
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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|
G |
Myh6 |
myosin heavy chain 6 |
|
IEP |
|
RGD |
PMID:7874842 |
RGD:12792976 |
NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
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G |
Myh7 |
myosin heavy chain 7 |
|
IEP |
|
RGD |
PMID:7874842 |
RGD:12792976 |
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
|
|
G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
treatment |
IEP |
|
RGD |
PMID:26646455 |
RGD:42722616 |
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
|
|
G |
Nfkbia |
NFKB inhibitor alpha |
exacerbates treatment |
ISO |
|
RGD |
PMID:19098124 PMID:10229101 |
RGD:126908017, RGD:126928139 |
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
|
|
G |
Nos2 |
nitric oxide synthase 2 |
|
IEP ISO IDA |
mRNA, protein:increased expression:intestine CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12620498 PMID:16787348 PMID:20519137 |
RGD:4891470, RGD:5147779 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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|
G |
Nos3 |
nitric oxide synthase 3 |
|
IEP |
protein:increased expression:aorta (rat) |
RGD |
PMID:10462376 |
RGD:7794732 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
|
|
G |
Npy |
neuropeptide Y |
treatment |
IDA |
|
RGD |
PMID:15342191 |
RGD:1580787 |
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
|
|
G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
|
IDA |
|
RGD |
PMID:15640646 |
RGD:4892561 |
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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|
G |
Otc |
ornithine transcarbamylase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16741687 |
|
NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
|
|
G |
Pck1 |
phosphoenolpyruvate carboxykinase 1 |
|
IEP |
|
RGD |
PMID:19268478 PMID:12217886 |
RGD:10427879, RGD:625688 |
NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191
|
|
G |
Pck2 |
phosphoenolpyruvate carboxykinase 2 (mitochondrial) |
|
IEP |
mRNA,protein:decreased expression,decreased activity:liver: |
RGD |
PMID:19268478 |
RGD:10427879 |
NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283
|
|
G |
Pcsk1 |
proprotein convertase subtilisin/kexin type 1 |
|
IEP |
|
RGD |
PMID:16337011 |
RGD:6483567 |
NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
|
|
G |
Pcsk2 |
proprotein convertase subtilisin/kexin type 2 |
|
IEP |
|
RGD |
PMID:16337011 |
RGD:6483567 |
NCBI chr 3:130,880,422...131,183,127
Ensembl chr 3:130,880,422...131,183,127
|
|
G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
|
ISO |
|
RGD |
PMID:22119535 |
RGD:6771174 |
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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|
G |
Pf4 |
platelet factor 4 |
treatment |
IEP |
|
RGD |
PMID:20601223 |
RGD:329901905 |
NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
|
|
G |
Pgf |
placental growth factor |
|
ISO |
protein:increased expression:multiple |
RGD |
PMID:16702604 |
RGD:6483601 |
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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|
G |
Pla2g7 |
phospholipase A2 group VII |
|
IEP |
protein:increased expression: : |
RGD |
PMID:10748027 |
RGD:7248791 |
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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|
G |
Plat |
plasminogen activator, tissue type |
treatment |
ISO |
|
RGD |
PMID:9091588 |
RGD:11541073 |
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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|
G |
Pparg |
peroxisome proliferator-activated receptor gamma |
|
IEP |
protein:increased expression:small intestine mucosa |
RGD |
PMID:21641970 |
RGD:5135029 |
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
|
|
G |
Prkaa1 |
protein kinase AMP-activated catalytic subunit alpha 1 |
|
ISO |
mRNA:decreased expression:epididymal fat pad |
RGD |
PMID:20421294 |
RGD:6484543 |
NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
|
|
G |
Prkn |
parkin RBR E3 ubiquitin protein ligase |
|
ISO |
protein:increased expression:liver, mitochondrion (mouse) |
RGD |
PMID:28615325 |
RGD:13432559 |
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
|
|
G |
Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
treatment |
ISO |
|
RGD |
PMID:18205901 PMID:23170801 |
RGD:11100030, RGD:11100034 |
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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|
G |
Ptafr |
platelet-activating factor receptor |
treatment |
IMP |
|
RGD |
PMID:2178565 |
RGD:10041063 |
NCBI chr 5:144,765,770...144,795,057
Ensembl chr 5:144,765,976...144,795,251
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|
G |
Ptger4 |
prostaglandin E receptor 4 |
|
IEP |
protein:increased expression:paraventricular hypothalamic nucleus parvicellular division (rat) |
RGD |
PMID:11058222 |
RGD:10043329 |
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
|
|
G |
Ptgis |
prostaglandin I2 synthase |
treatment |
IMP |
|
RGD |
PMID:11076704 |
RGD:401960076 |
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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|
G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
IEP |
|
RGD |
PMID:21641970 |
RGD:5135029 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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|
G |
Ren |
renin |
|
ISO IEP |
protein:increased activity:blood plasma (mouse) protein:increased activity:blood plasma (rat) |
RGD |
PMID:30027346 PMID:16512638 |
RGD:125097481, RGD:125097499 |
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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|
G |
Serpinc1 |
serpin family C member 1 |
treatment |
ISO IDA IEP |
|
RGD |
PMID:16457847 PMID:21396682 PMID:20519137 PMID:15995859 |
RGD:1599326, RGD:5147765, RGD:5147779, RGD:1599332 |
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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|
G |
Serpine1 |
serpin family E member 1 |
treatment |
IEP IDA |
|
RGD |
PMID:21396682 PMID:25396762 |
RGD:5147765, RGD:10449434 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
|
|
G |
Serpinf1 |
serpin family F member 1 |
|
ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:12386642 |
RGD:36174005 |
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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|
G |
Serping1 |
serpin family G member 1 |
treatment |
ISO |
|
RGD |
PMID:18652771 |
RGD:8661643 |
NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
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|
G |
Slc18a3 |
solute carrier family 18 member A3 |
|
IEP |
protein:decreased expression:parietal cortex |
RGD |
PMID:17306796 |
RGD:5686693 |
NCBI chr16:7,713,630...7,716,491
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|
G |
Slc22a1 |
solute carrier family 22 member 1 |
treatment |
IDA |
|
RGD |
PMID:18313662 |
RGD:7243881 |
NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
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|
G |
Slc22a2 |
solute carrier family 22 member 2 |
treatment |
IDA |
|
RGD |
PMID:18313662 |
RGD:7243881 |
NCBI chr 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268
|
|
G |
Slc38a3 |
solute carrier family 38, member 3 |
|
IEP |
|
RGD |
PMID:20036385 |
RGD:9999227 |
NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988
|
|
G |
Slc38a5 |
solute carrier family 38, member 5 |
|
IEP |
|
RGD |
PMID:20036385 |
RGD:9999227 |
NCBI chr X:14,213,727...14,222,498
Ensembl chr X:14,213,729...14,222,498
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|
G |
Slc7a5 |
solute carrier family 7 member 5 |
|
IEP |
|
RGD |
PMID:26337286 |
RGD:151361133 |
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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|
G |
Slpi |
secretory leukocyte peptidase inhibitor |
|
IEP |
|
RGD |
PMID:25466948 |
RGD:9999425 |
NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453
|
|
G |
Socs1 |
suppressor of cytokine signaling 1 |
|
ISO |
mRNA:increased expression:liver, skeletal muscle |
RGD |
PMID:15169905 |
RGD:2298923 |
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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G |
Socs3 |
suppressor of cytokine signaling 3 |
|
ISO IEP |
mRNA:increased expression:liver, skeletal muscle |
RGD |
PMID:15169905 PMID:12217886 |
RGD:2298923, RGD:625688 |
NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
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|
G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16741687 |
|
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
|
|
G |
Sparc |
secreted protein acidic and cysteine rich |
|
IEP |
mRNA, protein:decreased expression:kidney |
RGD |
PMID:10703670 |
RGD:2300026 |
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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|
G |
Stat5b |
signal transducer and activator of transcription 5B |
|
IDA |
protein:decreased tyrosine phosphorylation:liver |
RGD |
PMID:17327369 |
RGD:1601383 |
NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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|
G |
Tbxa2r |
thromboxane A2 receptor |
|
IDA IMP |
|
RGD |
PMID:15647606 PMID:2580129 |
RGD:1601450, RGD:11059531 |
NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176
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|
G |
Tbxas1 |
thromboxane A synthase 1 |
|
IDA |
|
RGD |
PMID:15647606 |
RGD:1601450 |
NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096
|
|
G |
Tdo2 |
tryptophan 2,3-dioxygenase |
severity |
ISO |
|
RGD |
PMID:24930766 |
RGD:39939032 |
NCBI chr 2:167,269,581...167,287,511
Ensembl chr 2:167,269,579...167,287,511
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G |
Tfpi |
tissue factor pathway inhibitor |
treatment |
ISO |
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RGD |
PMID:17537762 |
RGD:11062086 |
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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G |
Thbd |
thrombomodulin |
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IEP ISO |
mRNA:decreased expression:endothelial cell |
RGD |
PMID:12611420 PMID:20348393 PMID:19487933 |
RGD:1601652, RGD:5685037, RGD:5684988 |
NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
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IEP |
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RGD |
PMID:17083784 |
RGD:2290426 |
NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839
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G |
Tlr2 |
toll-like receptor 2 |
treatment |
IDA |
|
RGD |
PMID:22172266 |
RGD:7241094 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr4 |
toll-like receptor 4 |
treatment disease_progression |
IDA ISO |
mRNA:increased expression:liver: |
RGD |
PMID:22172266 PMID:23977376 PMID:23977376 |
RGD:7241094, RGD:14697731, RGD:14697731 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tnf |
tumor necrosis factor |
treatment |
IEP ISO IDA |
protein:increased expression:plasma XCO:0000822 JTE-607 associated with liver cirrhosis protein:increased expression:plasma (rat) |
RGD |
PMID:17324147 PMID:10493164 PMID:15242491 PMID:18078960 PMID:8283134 PMID:12813371 PMID:21396682 PMID:20519137 More...
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RGD:4891465, RGD:40903016, RGD:38501090, RGD:15023464, RGD:14995443, RGD:14995427, RGD:5147765, RGD:5147779 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Trem1 |
triggering receptor expressed on myeloid cells 1 |
treatment |
ISO |
|
RGD |
PMID:21507332 PMID:15585833 |
RGD:126925982, RGD:126928122 |
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
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IEP |
mRNA:increased expression:brain: |
RGD |
PMID:20061033 |
RGD:7240511 |
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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G |
Vwf |
von Willebrand factor |
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IEP |
protein:increased expression:endothelial cell: |
RGD |
PMID:2650559 |
RGD:11079230 |
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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G |
Gch1 |
GTP cyclohydrolase 1 |
treatment |
IDA |
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RGD |
PMID:8602831 |
RGD:329961578 |
NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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G |
Htr2a |
5-hydroxytryptamine receptor 2A |
treatment |
IMP |
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RGD |
PMID:19318092 |
RGD:401901206 |
NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
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G |
Csf3 |
colony stimulating factor 3 |
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IEP |
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RGD |
PMID:9835289 |
RGD:11039473 |
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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G |
Fgf7 |
fibroblast growth factor 7 |
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ISO |
mRNA:increased expression:distal colon (mouse) |
RGD |
PMID:10338516 |
RGD:126928149 |
NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24498193 |
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NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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G |
Ccl4 |
C-C motif chemokine ligand 4 |
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IEP |
mRNA:increased expression:brain |
RGD |
PMID:16238536 |
RGD:5683919 |
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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G |
Hba-a1 |
hemoglobin alpha, adult chain 1 |
treatment |
ISO |
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RGD |
PMID:18786935 |
RGD:10449443 |
NCBI chr10:15,337,265...15,338,121
Ensembl chr10:15,307,815...15,338,392
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G |
Hba-a2 |
hemoglobin alpha, adult chain 2 |
treatment |
ISO |
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RGD |
PMID:18786935 |
RGD:10449443 |
NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392
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G |
Hba-a3 |
hemoglobin alpha, adult chain 3 |
treatment |
ISO |
|
RGD |
PMID:18786935 |
RGD:10449443 |
NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481
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G |
Irak3 |
interleukin-1 receptor-associated kinase 3 |
treatment |
ISO |
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RGD |
PMID:27832756 |
RGD:34888235 |
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
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G |
Lcn2 |
lipocalin 2 |
exacerbates |
ISO |
protein:increased expression:serum |
RGD |
PMID:25234944 PMID:16446425 PMID:25234944 |
RGD:126725084, RGD:126779557, RGD:126725084 |
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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G |
Muc2 |
mucin 2, oligomeric mucus/gel-forming |
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IEP |
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RGD |
PMID:23798529 |
RGD:7349358 |
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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G |
Ntrk2 |
neurotrophic receptor tyrosine kinase 2 |
onset |
IEP |
protein:decreased expression:hippocampus |
RGD |
PMID:21411668 |
RGD:5684914 |
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
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G |
Plac8 |
placenta associated 8 |
severity |
ISO |
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RGD |
PMID:17404296 |
RGD:40924563 |
NCBI chr14:9,052,601...9,074,264
Ensembl chr14:9,063,048...9,074,264
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G |
Rnasel |
ribonuclease L |
severity |
ISO |
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RGD |
PMID:19075243 |
RGD:40902812 |
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
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G |
Slc6a4 |
solute carrier family 6 member 4 |
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ISO |
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RGD |
PMID:19747920 |
RGD:36947380 |
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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G |
Tnf |
tumor necrosis factor |
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IEP |
protein:increased expression:serum (rat) |
RGD |
PMID:9466473 |
RGD:38508904 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tlr2 |
toll-like receptor 2 |
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ISO |
mRNA:increased expression: : |
RGD |
PMID:12781911 |
RGD:7794740 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr4 |
toll-like receptor 4 |
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ISO |
mRNA:increased expression: : |
RGD |
PMID:12781911 |
RGD:7794740 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Tlr7 |
toll-like receptor 7 |
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ISO |
mRNA:increased expression: : |
RGD |
PMID:12781911 |
RGD:7794740 |
NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754
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G |
Comt |
catechol-O-methyltransferase |
severity |
ISO |
DNA:missense mutation:cds: (rs4680) (human) |
RGD |
PMID:20184498 |
RGD:8662334 |
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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G |
Tlr2 |
toll-like receptor 2 |
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ISO |
mRNA:increased expression:footpad: |
RGD |
PMID:21205004 |
RGD:7794752 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Tlr4 |
toll-like receptor 4 |
|
ISO |
mRNA:decreased expression:footpad: |
RGD |
PMID:21205004 |
RGD:7794752 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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G |
Cd209d |
CD209d molecule |
susceptibility |
ISO |
DNA:SNPs:promoter: -939G>A,-871A>G (rs735239) (human) |
RGD |
PMID:24874302 |
RGD:39938981 |
NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171
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G |
Clec4m |
C-type lectin domain family 4 member M |
susceptibility |
ISO |
DNA:repeats:exon 4: allele 6, allele 9 (human) |
RGD |
PMID:24874302 |
RGD:39938981 |
NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
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G |
Ereg |
epiregulin |
susceptibility |
ISO |
DNA:SNP:exon 4: (rs2367707) (human) |
RGD |
PMID:30634928 |
RGD:39457687 |
NCBI chr14:17,027,287...17,041,062
Ensembl chr14:17,027,287...17,041,062
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G |
Ncstn |
nicastrin |
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ISO |
ClinVar Annotator: match by term: Acne inversa, familial, 1 | ClinVar Annotator: match by term: NCSTN-related condition |
OMIM ClinVar |
PMID:20929727 PMID:21412258 PMID:22358060 PMID:25693063 PMID:25741868 PMID:26463457 PMID:28492532 PMID:32926179 More...
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NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
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G |
Psenen |
presenilin enhancer gamma secretase subunit |
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ISO |
ClinVar Annotator: match by term: Acne inversa, familial, 2 |
OMIM ClinVar |
PMID:20929727 PMID:21412258 PMID:25741868 PMID:27900998 PMID:28287404 PMID:28492532 PMID:28601418 More...
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NCBI chr 1:85,814,905...85,816,654
Ensembl chr 1:85,814,905...85,816,192
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G |
Psen1 |
presenilin 1 |
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ISO |
ClinVar Annotator: match by term: Acne inversa, familial, 3 |
OMIM ClinVar |
PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 PMID:8905716 PMID:8962160 PMID:8986743 PMID:9521423 PMID:9804121 PMID:10327206 PMID:11389157 PMID:11524469 PMID:12433263 PMID:12549925 PMID:14769392 PMID:18045903 PMID:19111578 PMID:20049724 PMID:20157243 PMID:20929727 PMID:21559374 PMID:22242180 PMID:22461631 PMID:22475797 PMID:22503161 PMID:22956200 PMID:23638752 PMID:24463146 PMID:24559647 PMID:25285942 PMID:25299611 PMID:25323700 PMID:25741868 PMID:26337232 PMID:26467025 PMID:27264813 PMID:27930341 PMID:28269784 PMID:28492532 PMID:30054184 PMID:31235249 PMID:31914229 PMID:32087291 PMID:32917274 PMID:34389718 PMID:35645353 PMID:35949106 More...
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NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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G |
Ncstn |
nicastrin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20929727 |
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NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
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G |
Psen1 |
presenilin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20929727 |
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NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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G |
Psenen |
presenilin enhancer gamma secretase subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20929727 |
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NCBI chr 1:85,814,905...85,816,654
Ensembl chr 1:85,814,905...85,816,192
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G |
Asip |
agouti signaling protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32937126 |
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NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171
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G |
Mir21 |
microRNA 21 |
severity |
ISO |
associated with colorectal cancer |
RGD |
PMID:27876571 |
RGD:40925941 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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G |
Gsn |
gelsolin |
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ISO |
protein:decreased expression:blood serum (human) |
RGD |
PMID:9142022 |
RGD:329333022 |
NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
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ISO |
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RGD |
PMID:12502811 |
RGD:4890015 |
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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G |
Ifnar1 |
interferon alpha and beta receptor subunit 1 |
exacerbates |
ISO |
|
RGD |
PMID:28264883 |
RGD:125093738 |
NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979
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G |
Ifng |
interferon gamma |
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ISO |
protein:increased expression:vaginal secretion: |
RGD |
PMID:10366565 |
RGD:8158034 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Il21 |
interleukin 21 |
treatment |
ISO |
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RGD |
PMID:24358128 |
RGD:127285365 |
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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G |
Il3 |
interleukin 3 |
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ISO |
RNA: increased expression |
RGD |
PMID:21175248 |
RGD:5686876 |
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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G |
Irf9 |
interferon regulatory factor 9 |
exacerbates |
ISO |
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RGD |
PMID:28264883 |
RGD:125093738 |
NCBI chr15:29,095,474...29,101,924
Ensembl chr15:29,095,789...29,101,236
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
ameliorates |
ISO |
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RGD |
PMID:31555293 |
RGD:42722615 |
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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G |
Rnasel |
ribonuclease L |
severity |
ISO |
|
RGD |
PMID:17157346 |
RGD:40902623 |
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
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G |
Stat4 |
signal transducer and activator of transcription 4 |
treatment severity |
ISO |
DNA:SNP:intron:rs7572482 (human) DNA:SNPs, haplotype: :multiple |
RGD |
PMID:22718836 PMID:22718836 |
RGD:8661697, RGD:8661697 |
NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540
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G |
Amer1 |
APC membrane recruitment protein 1 |
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ISO |
associated with colorectal cancer;DNA:mutation:multiple (human) |
RGD |
PMID:30062471 |
RGD:151665182 |
NCBI chr X:60,300,595...60,316,480
Ensembl chr X:60,295,751...60,316,440
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G |
Gclc |
glutamate-cysteine ligase, catalytic subunit |
susceptibility |
ISO |
associated with Cystic Fibrosis;DNA:SNP,haplotype:promoter:-129C >T,-3506A >G (human) |
RGD |
PMID:24593045 |
RGD:10401929 |
NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
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G |
Il17a |
interleukin 17A |
susceptibility |
ISO |
Moraxellaceae Infections; associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human) |
RGD |
PMID:20437253 |
RGD:4889139 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Il1b |
interleukin 1 beta |
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ISO |
protein:increased expression:lung (mouse) |
RGD |
PMID:20308302 |
RGD:4142825 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Rnase3 |
ribonuclease A family member 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21696142 |
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NCBI chr15:24,511,894...24,512,764
Ensembl chr15:24,511,891...24,512,790
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G |
Slc6a4 |
solute carrier family 6 member 4 |
|
ISO |
protein:decreased expression:colon (mouse) |
RGD |
PMID:16548890 |
RGD:38676481 |
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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G |
Ugt1a1 |
UDP glucuronosyltransferase family 1 member A1 |
|
ISO |
mRNA:decreased expression:liver |
RGD |
PMID:16339353 |
RGD:6482852 |
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Icos |
inducible T-cell co-stimulator |
|
ISO |
|
RGD |
PMID:12421962 |
RGD:1624276 |
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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G |
Rnase3 |
ribonuclease A family member 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21696142 |
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NCBI chr15:24,511,894...24,512,764
Ensembl chr15:24,511,891...24,512,790
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G |
Tlr2 |
toll-like receptor 2 |
|
ISO |
|
RGD |
PMID:18354210 |
RGD:7240560 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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G |
Irak3 |
interleukin-1 receptor-associated kinase 3 |
severity |
ISO |
|
RGD |
PMID:25585690 |
RGD:11527046 |
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
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G |
Lcn2 |
lipocalin 2 |
|
ISO |
mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium |
RGD |
PMID:16153241 |
RGD:126781709 |
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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G |
Mir21 |
microRNA 21 |
ameliorates |
ISO |
associated with asthma; |
RGD |
PMID:27448447 |
RGD:41404696 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
mRNA, protein:increased expression:macrophage, lung: |
RGD |
PMID:27330052 |
RGD:39131287 |
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
Sting1 |
stimulator of interferon response cGAMP interactor 1 |
|
ISO |
mRNA,protein:increased expression:lung (mouse) |
RGD |
PMID:29421524 |
RGD:39128228 |
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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G |
Fcgr2a |
Fc gamma receptor 2A |
susceptibility |
ISO |
associated with Anemia, Sickle Cell;DNA:polymorphism:cds:p.H131R(human) |
RGD |
PMID:8648541 |
RGD:11040885 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
sexual_dimorphism no_association |
ISO |
associated with peptic ulcer disease;DNA:SNP: :3435C>T(human) DNA:haplotype: :3435T> C,2677T>G ,1236C>T (human) |
RGD |
PMID:22001987 PMID:27611887 |
RGD:39456093, RGD:39456122 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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G |
Ace |
angiotensin I converting enzyme |
susceptibility |
ISO |
DNA:insertion/deletion:intron: |
RGD |
PMID:28746216 |
RGD:40400710 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Acvr1b |
activin A receptor type 1B |
disease_progression |
ISO |
associated with stomach cancer;mRNA:increased expression:stomach: |
RGD |
PMID:32066878 |
RGD:151665490 |
NCBI chr 7:132,286,266...132,329,679
Ensembl chr 7:132,286,275...132,329,673
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G |
Aicda |
activation-induced cytidine deaminase |
|
ISO |
protein:increased expression:mucosa of stomach (human) |
RGD |
PMID:23591766 |
RGD:127285627 |
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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G |
Atm |
ATM serine/threonine kinase |
|
ISO |
associated with stomach cancer;mRNA:increased expression:stomach (human) |
RGD |
PMID:29128564 |
RGD:126790563 |
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
Birc3 |
baculoviral IAP repeat-containing 3 |
treatment |
ISO |
associated with stomach cancer associated with MALT lymphoma;DNA:gene fusion: (human) |
RGD |
PMID:27282269 PMID:11398794 |
RGD:153297818, RGD:153305954 |
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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G |
Ccnd2 |
cyclin D2 |
treatment |
ISO |
associated with Gastrointestinal Neoplasms or gastritis mRNA:increased expression:stomach: |
RGD |
PMID:11552926 PMID:12133540 |
RGD:151665103, RGD:151665119 |
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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G |
Cd1d1 |
CD1d1 molecule |
|
ISO |
associated with dyspepsia;mRNA:splice variant:pyloric antrum (human) |
RGD |
PMID:26119195 |
RGD:11074500 |
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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G |
Cdh1 |
cadherin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19184424 |
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NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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G |
Cdkn1b |
cyclin-dependent kinase inhibitor 1B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15138205 |
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NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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G |
Cxcl6 |
C-X-C motif chemokine ligand 6 |
disease_progression |
ISO |
mRNA:altered expression:gastric antrum (mouse) |
RGD |
PMID:29085807 |
RGD:38549349 |
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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G |
Cybb |
cytochrome b-245 beta chain |
disease_progression |
ISO |
mRNA,protein:increased expression:mucosa of stomach (human) |
RGD |
PMID:27048452 |
RGD:40924640 |
NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
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G |
Cyp2c6 |
cytochrome P450, family 2, subfamily C, polypeptide 6 |
treatment no_association |
ISO |
DNA:polymorphisms:exons: DNA:polymorphisms:: |
RGD |
PMID:9867757 PMID:27706745 PMID:15691303 |
RGD:124713408, RGD:124713537, RGD:124713409 |
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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G |
Cysltr1 |
cysteinyl leukotriene receptor 1 |
treatment |
ISO |
|
RGD |
PMID:18571838 |
RGD:40903061 |
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
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G |
Duox2 |
dual oxidase 2 |
disease_progression |
ISO |
mRNA,protein:decreased expression:mucosa of stomach (human) |
RGD |
PMID:27048452 |
RGD:40924640 |
NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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G |
Egf |
epidermal growth factor |
treatment |
ISO |
associated with gastritis; |
RGD |
PMID:25051417 |
RGD:38599160 |
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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G |
Egfr |
epidermal growth factor receptor |
treatment |
ISO |
associated with gastritis; |
RGD |
PMID:25051417 PMID:28473630 |
RGD:38599160, RGD:38599214 |
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
treatment |
ISO |
associated with gastritis; |
RGD |
PMID:25051417 |
RGD:38599160 |
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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G |
F2r |
coagulation factor II (thrombin) receptor |
|
ISO |
|
RGD |
PMID:24866378 |
RGD:40924630 |
NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870
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G |
Gab1 |
GRB2-associated binding protein 1 |
susceptibility |
ISO |
DNA:SNP:intron: |
RGD |
PMID:17211494 |
RGD:39128202 |
NCBI chr19:27,131,262...27,239,236
Ensembl chr19:27,131,262...27,239,236
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G |
Hamp |
hepcidin antimicrobial peptide |
treatment |
ISO |
|
RGD |
PMID:21757452 |
RGD:11041721 |
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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G |
Hmox1 |
heme oxygenase 1 |
|
ISO |
|
RGD |
PMID:16100019 |
RGD:1598398 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Ifng |
interferon gamma |
disease_progression |
ISO |
mRNA:altered expression:gastric antrum (mouse) |
RGD |
PMID:29085807 |
RGD:38549349 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Ifngr1 |
interferon gamma receptor 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Helicobacter pylori infection, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:10192386 PMID:11583830 PMID:12516030 PMID:16690980 PMID:18171304 PMID:19488747 PMID:20015550 PMID:25741868 PMID:28492532 PMID:28902581 More...
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NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
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G |
Il1b |
interleukin 1 beta |
disease_progression |
ISO |
mRNA:altered expression:gastric antrum (mouse) |
RGD |
PMID:29085807 |
RGD:38549349 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il21 |
interleukin 21 |
|
ISO |
mRNA, protein:increased expression:mucosa of stomach (human) |
RGD |
PMID:17442980 PMID:31383743 |
RGD:127285542, RGD:127285544 |
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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G |
Il33 |
interleukin 33 |
severity |
ISO |
associated with Helicobacter Infections;DNA:SNP: : rs1929992(human) mRNA:increased expression:stomach |
RGD |
PMID:31491552 PMID:31320834 |
RGD:39938849, RGD:39939030 |
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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G |
Il6 |
interleukin 6 |
disease_progression |
ISO |
mRNA:altered expression:gastric antrum (mouse) |
RGD |
PMID:29085807 |
RGD:38549349 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Lcn2 |
lipocalin 2 |
|
ISO |
protein:increased expression:gastric mucosa |
RGD |
PMID:19727808 |
RGD:126781713 |
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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G |
Ltb4r |
leukotriene B4 receptor |
treatment |
ISO |
|
RGD |
PMID:18571838 |
RGD:40903061 |
NCBI chr15:29,263,199...29,265,716
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G |
Mapk8 |
mitogen-activated protein kinase 8 |
|
ISO |
protein:increased expression:pyloric antrum (human) |
RGD |
PMID:17643099 |
RGD:150340691 |
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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G |
Mir155 |
microRNA 155 |
|
ISO |
miRNA:increased expression:stomach |
RGD |
PMID:29250766 PMID:28560185 |
RGD:21408595, RGD:25671377 |
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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G |
Mir222 |
microRNA 222 |
|
ISO |
associated with stomach cancer;RNA:increased expression:stomach: |
RGD |
PMID:29227536 |
RGD:151708731 |
NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
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G |
Mthfr |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human) |
RGD |
PMID:23183616 PMID:20957490 |
RGD:38501056, RGD:38501057 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Muc6 |
mucin 6, oligomeric mucus/gel-forming |
|
ISO |
protein:increased expression:stomach epithelium |
RGD |
PMID:15280409 |
RGD:7364760 |
NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
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G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
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ISO |
|
RGD |
PMID:28201999 |
RGD:150519916 |
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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G |
Pdcd1 |
programmed cell death 1 |
severity |
ISO |
|
RGD |
PMID:21562113 |
RGD:40818417 |
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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G |
Prkaa1 |
protein kinase AMP-activated catalytic subunit alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28220687 |
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NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
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G |
Psca |
prostate stem cell antigen |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28220687 |
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NCBI chr 7:106,598,203...106,603,114
Ensembl chr 7:106,595,284...106,609,746
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G |
Pten |
phosphatase and tensin homolog |
|
ISO |
associated with gastritis;protein:increased phosphorylation:stomach (human) |
RGD |
PMID:26376616 |
RGD:127285599 |
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
susceptibility |
ISO |
DNA:SNP:intron: rs2301756(human) |
RGD |
PMID:19589142 |
RGD:39128247 |
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
Ptprz1 |
protein tyrosine phosphatase, receptor type Z1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17030583 |
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NCBI chr 4:51,397,316...51,595,220
Ensembl chr 4:51,397,601...51,595,218
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G |
RT1-Ba |
RT1 class II, locus Ba |
resistance |
ISO |
associated with Diabetes Mellitus, Insulin-Dependent |
RGD |
PMID:11860411 |
RGD:2301818 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
RT1-Bb |
RT1 class II, locus Bb |
susceptibility |
ISO |
associated with Purpura, Thrombocytopenic, Idiopathic;DNA:polymorphisms (human) DNA:polymorphisms: :HLA-DQB1*301, HLA-DQB1*04(human) |
RGD |
PMID:16011982 PMID:15833172 |
RGD:5147649, RGD:36049761 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
susceptibility |
ISO |
associated with Purpura, Thrombocytopenic, Idiopathic;DNA:polymorphisms (human) DNA:polymorphisms: :HLA-DRB1*11, HLA-DRB1*12(human) |
RGD |
PMID:16011982 PMID:15833172 |
RGD:5147649, RGD:36049761 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Slc6a4 |
solute carrier family 6 member 4 |
|
ISO |
DNA:repeats:promoter: |
RGD |
PMID:24720453 |
RGD:36947385 |
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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G |
Socs3 |
suppressor of cytokine signaling 3 |
|
IEP |
mRNA, protein:increased expression |
RGD |
PMID:17405912 |
RGD:1625683 |
NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
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G |
Tff1 |
trefoil factor 1 |
disease_progression |
ISO |
mRNA:altered expression:gastric antrum (mouse) |
RGD |
PMID:29085807 |
RGD:38549349 |
NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597
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G |
Tff2 |
trefoil factor 2 |
disease_progression |
ISO |
protein:increased expression:stomach epithelium mRNA:altered expression:gastric antrum (mouse) |
RGD |
PMID:15280409 PMID:29085807 |
RGD:7364760, RGD:38549349 |
NCBI chr20:9,215,750...9,219,619
Ensembl chr20:9,215,761...9,219,619
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G |
Tff3 |
trefoil factor 3 |
disease_progression |
ISO |
mRNA:altered expression:gastric antrum (mouse) |
RGD |
PMID:29085807 |
RGD:38549349 |
NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
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G |
Tfrc |
transferrin receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16733738 PMID:17163184 |
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NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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G |
Vip |
vasoactive intestinal peptide |
|
ISO |
protein:increased expression:spinal cord, stomach |
RGD |
PMID:19906107 |
RGD:5685602 |
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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G |
Cd163 |
CD163 molecule |
|
ISO |
protein:increased expression:dermis (human) |
RGD |
PMID:29603182 |
RGD:127285799 |
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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G |
Gjb2 |
gap junction protein, beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16172043 |
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NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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G |
Il17d |
interleukin 17D |
sexual_dimorphism |
ISO |
mRNA:increased expression:apocrine gland (human) |
RGD |
PMID:32031713 |
RGD:40903066 |
NCBI chr15:31,671,337...31,688,833
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G |
Lcn2 |
lipocalin 2 |
disease_progression |
ISO |
|
RGD |
PMID:28256718 |
RGD:126781708 |
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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G |
Mefv |
MEFV innate immunity regulator, pyrin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27106250 |
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NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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G |
Nlrp3 |
NLR family, pyrin domain containing 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27106250 |
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NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27106250 |
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NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Pstpip1 |
proline-serine-threonine phosphatase-interacting protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27106250 |
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NCBI chr 8:56,499,287...56,538,593
Ensembl chr 8:56,499,590...56,538,580
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G |
Tnf |
tumor necrosis factor |
|
ISO |
DNA:polymorphism,haplotype:promoter:-238G>A(human) |
RGD |
PMID:23106544 |
RGD:7777155 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
App |
amyloid beta precursor protein |
|
ISO |
|
RGD |
PMID:29632166 |
RGD:13782045 |
NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
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G |
Bace1 |
beta-secretase 1 |
|
ISO |
|
RGD |
PMID:29632166 |
RGD:13782045 |
NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876
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G |
Cd68 |
Cd68 molecule |
|
ISO |
protein:increased expression:brain (human) |
RGD |
PMID:15488024 |
RGD:40925943 |
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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G |
Cdk5 |
cyclin-dependent kinase 5 |
|
IDA |
protein:increased tyrosine phosphorylation:hippocampus |
RGD |
PMID:28107387 |
RGD:13506927 |
NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112
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G |
Mfn1 |
mitofusin 1 |
|
ISO |
associated with HIV Infections;protein:increased expression:frontal cortex, membrane (human) |
RGD |
PMID:26611103 |
RGD:12910851 |
NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
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G |
Olig2 |
oligodendrocyte transcription factor 2 |
|
ISO |
|
RGD |
PMID:15579294 |
RGD:40902823 |
NCBI chr11:30,475,510...30,478,886
Ensembl chr11:30,475,398...30,480,152
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G |
Alb |
albumin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17209195 |
|
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Aph1b |
aph-1 homolog B, gamma secretase subunit |
susceptibility |
ISO |
DNA:SNP:CDS:p.F217L (rs1047552) (human) |
RGD |
PMID:19774691 |
RGD:13703126 |
NCBI chr 8:67,429,198...67,454,735
Ensembl chr 8:67,429,198...67,450,243
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|
G |
Clec4m |
C-type lectin domain family 4 member M |
susceptibility |
ISO |
DNA:repeats:exon 4 DNA:repeat: |
RGD |
PMID:25656622 PMID:20217198 PMID:16453266 |
RGD:11520989, RGD:39938989, RGD:39938979 |
NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539
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G |
Klrk1 |
killer cell lectin like receptor K1 |
|
ISO |
protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human) |
RGD |
PMID:27091211 |
RGD:40818300 |
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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G |
Ncr1 |
natural cytotoxicity triggering receptor 1 |
treatment |
ISO |
protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human) |
RGD |
PMID:18724804 PMID:27091211 |
RGD:40818277, RGD:40818300 |
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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G |
Nefl |
neurofilament light chain |
treatment |
ISO |
|
RGD |
PMID:30105502 |
RGD:127284876 |
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
|
ISO |
DNA:polymorphism (human) |
RGD |
PMID:20224785 |
RGD:5147578 |
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Il1a |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
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RGD |
PMID:12876073 |
RGD:8694470 |
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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G |
Adrb3 |
adrenoceptor beta 3 |
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ISO |
DNA:missense mutation:cds:p.W64R rs4994 (human) |
RGD |
PMID:10930169 |
RGD:5684895 |
NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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G |
Il18 |
interleukin 18 |
susceptibility |
ISO |
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human) |
RGD |
PMID:20331838 PMID:15353983 |
RGD:8655915, RGD:8655934 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Lmna |
lamin A/C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18230615 |
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NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Mmp1 |
matrix metallopeptidase 1 |
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ISO |
DNA:SNP |
RGD |
PMID:20852404 |
RGD:8549721 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Zmpste24 |
zinc metallopeptidase STE24 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18230615 |
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NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110
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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
treatment severity |
IEP ISO |
mRNA:altered expression:brain, heart, kidney (rat) DNA:SNPs: :4036A>G, 1236C>T (human) |
RGD |
PMID:24472536 PMID:23133441 PMID:27334660 |
RGD:11041168, RGD:39456100, RGD:39456096 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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G |
Abcb1b |
ATP-binding cassette, sub-family B member 1B |
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IDA IEP |
mRNA:decreased expression, increased expression:brain, kidney (rat) |
RGD |
PMID:16790532 PMID:24472536 |
RGD:1598562, RGD:11041168 |
NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199
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G |
Abce1 |
ATP binding cassette subfamily E member 1 |
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ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:19657357 |
RGD:11041871 |
NCBI chr19:28,205,566...28,230,489
Ensembl chr19:28,205,555...28,230,489
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G |
Adrb2 |
adrenoceptor beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27400929 |
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NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
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G |
Aicda |
activation-induced cytidine deaminase |
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ISO |
mRNA:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:30219203 |
RGD:127285639 |
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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G |
Alb |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16903978 |
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NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Alyref |
Aly/REF export factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15308739 |
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NCBI chr10:105,871,424...105,875,076
Ensembl chr10:105,871,306...105,875,069
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G |
Apoa1 |
apolipoprotein A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12646808 |
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NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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G |
Arap3 |
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15308739 |
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NCBI chr18:29,806,214...29,834,217
Ensembl chr18:29,807,536...29,833,555
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G |
Arhgap4 |
Rho GTPase activating protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15308739 |
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NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128
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G |
Arhgdia |
Rho GDP dissociation inhibitor alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15308739 |
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NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023
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G |
Arhgdib |
Rho GDP dissociation inhibitor beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15308739 |
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NCBI chr 4:169,822,951...169,841,884
Ensembl chr 4:169,822,952...169,841,658
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G |
Atm |
ATM serine/threonine kinase |
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ISO |
protein:decreased expression:T cell (human) |
RGD |
PMID:31781094 |
RGD:126790561 |
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
Bag3 |
BAG cochaperone 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17187345 |
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NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
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G |
Bax |
BCL2 associated X, apoptosis regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12878215 |
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NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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G |
Birc2 |
baculoviral IAP repeat-containing 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12878215 |
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NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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G |
Birc3 |
baculoviral IAP repeat-containing 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12878215 |
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NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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G |
Bst2 |
bone marrow stromal cell antigen 2 |
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ISO |
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS |
ClinVar |
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NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979
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G |
C3 |
complement C3 |
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ISO |
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RGD |
PMID:7561187 |
RGD:11040775 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
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ISO |
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to CTD Direct Evidence: marker/mechanism protein:increased expression:plasma |
ClinVar OMIM CTD RGD |
PMID:14571188 PMID:27246604 |
RGD:14995461 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to protein:increased expression:plasma CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:14571188 PMID:27246604 |
RGD:14995461 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccl3 |
C-C motif chemokine ligand 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
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NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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G |
Ccl4 |
C-C motif chemokine ligand 4 |
susceptibility |
ISO |
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RGD |
PMID:16250882 |
RGD:5683897 |
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
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ISO |
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, delayed disease progression with infection by | ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid disease progression with infection by CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:10200305 PMID:12114533 PMID:12610055 |
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NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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G |
Ccr2 |
C-C motif chemokine receptor 2 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to |
CTD OMIM ClinVar |
PMID:9252328 PMID:9662369 PMID:25741868 |
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NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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G |
Ccr3 |
C-C motif chemokine receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10202824 |
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NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
susceptibility |
ISO |
protein:decreased expression:blood, T cell (human) ClinVar Annotator: match by term: Human immunodeficiency virus type 1, increased perinatal transmission of | ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 PMID:9140404 PMID:9207783 PMID:9399903 PMID:9433423 PMID:9466996 PMID:9511755 PMID:9585595 PMID:9600249 PMID:9742978 PMID:9768627 PMID:10520641 PMID:10559343 PMID:10615909 PMID:10803840 PMID:11081537 PMID:11369664 PMID:11403804 PMID:11403814 PMID:11517319 PMID:11781692 PMID:12610055 PMID:12815099 PMID:12874407 PMID:15744032 PMID:15863470 PMID:16216086 PMID:16248677 PMID:16418398 PMID:19017985 PMID:19073967 PMID:25741868 PMID:28492532 PMID:33116287 PMID:16379602 Mor | |