RGD DISEASE ONTOLOGY - ANNOTATIONS |
|
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
|
Term: | parasitic infectious disease |
|
Accession: | DOID:1398
|
browse the term
|
Definition: | A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host. (DO) |
Synonyms: | exact_synonym: | Parasitic Disease; Parasitic Diseases; ectoparasitic disease; parasite infection; parasite infections; parasitemia; parasitic infection; parasitic infections |
| primary_id: | MESH:D010272 |
| xref: | EFO:0001067; ICD10CM:H44.12; ICD9CM:360.13; NCI:C34587 |
| subset: | RGD_JBrowse_slim |
For additional species annotation, visit the
Alliance of Genome Resources.
|
|
|
|
G |
TLR4 |
toll like receptor 4 |
|
ISO |
mRNA,protein:increased expression:cornea |
RGD |
PMID:21155840 |
RGD:7777095 |
NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
|
|
|
G |
BCL2 |
BCL2 apoptosis regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10861090 |
|
NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
|
|
G |
IL32 |
interleukin 32 |
|
ISO |
mRNA:increased expression:zone of skin, blood serum (human) |
RGD |
PMID:29037857 |
RGD:150340744 |
NCBI chr 6:38,119,287...38,122,979
|
|
|
G |
CD4 |
CD4 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9546790 |
|
NCBI chr27:38,204,003...38,250,771
Ensembl chr27:38,204,003...38,250,771
|
|
G |
TNFRSF8 |
TNF receptor superfamily member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9379333 |
|
NCBI chr 2:84,185,445...84,225,986
Ensembl chr 2:84,186,961...84,232,675
|
|
|
G |
CCL17 |
C-C motif chemokine ligand 17 |
|
ISO |
associated with Cystic Fibrosis |
RGD |
PMID:17898016 |
RGD:4145612 |
NCBI chr 2:59,001,463...59,014,347
Ensembl chr 2:59,001,464...59,005,230
|
|
G |
CCR1 |
chemokine (C-C motif) receptor 1 |
|
ISO |
|
RGD |
PMID:15951834 |
RGD:5688155 |
NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958
|
|
G |
CCR2 |
C-C motif chemokine receptor 2 |
|
ISO |
|
RGD |
PMID:10946288 |
RGD:8661731 |
NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
|
|
G |
CFTR |
CF transmembrane conductance regulator |
|
ISO |
DNA:mutations: : |
RGD |
PMID:11243954 |
RGD:4140482 |
NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977
|
|
G |
HLA-DRB1 |
MHC class II DLA DRB1 beta chain |
susceptibility |
ISO |
associated with cystic fibrosis; DNA:polymorphisms: : |
RGD |
PMID:23278646 |
RGD:36049760 |
NCBI chr12:2,151,409...2,164,564
|
|
G |
ICAM1 |
intercellular adhesion molecule 1 |
|
ISO |
|
RGD |
PMID:7743671 |
RGD:8547590 |
NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
|
|
G |
IL1A |
interleukin 1 alpha |
|
ISO |
|
RGD |
PMID:8699818 |
RGD:7794730 |
NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
|
|
G |
MBL1 |
mannose binding lectin 1 |
susceptibility |
ISO |
Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human) DNA:SNP:intron:1011G>A(human) |
RGD |
PMID:11474427 PMID:16487239 |
RGD:4889577 RGD:8693711 |
NCBI chr 4:29,419,886...29,424,377
|
|
G |
TLR9 |
toll like receptor 9 |
susceptibility |
ISO |
DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) |
RGD |
PMID:18275280 PMID:18936185 |
RGD:5130858 RGD:5130863 |
NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114 Ensembl chr20:37,542,340...37,547,114
|
|
G |
TNF |
tumor necrosis factor |
|
ISO |
|
RGD |
PMID:8699818 |
RGD:7794730 |
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
|
|
G |
TNFRSF1A |
TNF receptor superfamily member 1A |
susceptibility |
ISO |
DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human) |
RGD |
PMID:20646338 |
RGD:5131174 |
NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
|
|
|
G |
CD274 |
CD274 molecule |
treatment |
ISO |
|
RGD |
PMID:30315719 |
RGD:41410787 |
NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522
|
|
G |
HLA-DRB1 |
MHC class II DLA DRB1 beta chain |
|
ISO |
DNA:polymorphisms: :HLA-DRB1*03, DRB1*11(human) |
RGD |
PMID:9756400 |
RGD:36174003 |
NCBI chr12:2,151,409...2,164,564
|
|
G |
TLR2 |
toll like receptor 2 |
|
ISO |
mRNA:increased expression:PBMC |
RGD |
PMID:30141853 |
RGD:15090814 |
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
|
|
|
G |
HLA-DRB1 |
MHC class II DLA DRB1 beta chain |
susceptibility |
ISO |
DNA:polymorphism, haplotype: :HLA-DRB1*08 |
RGD |
PMID:25938667 |
RGD:36049810 |
NCBI chr12:2,151,409...2,164,564
|
|
G |
IL2 |
interleukin 2 |
treatment |
ISO |
|
RGD |
PMID:10862314 |
RGD:14928216 |
NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
|
|
G |
IL23A |
interleukin 23 subunit alpha |
|
ISO |
|
RGD |
PMID:26809113 |
RGD:39458041 |
NCBI chr10:635,384...640,715
Ensembl chr10:638,719...640,359
|
|
G |
TNF |
tumor necrosis factor |
treatment |
ISO |
|
RGD |
PMID:10862314 |
RGD:14928216 |
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
|
|
|
G |
IL25 |
interleukin 25 |
|
ISO |
protein:decreased expression:intestine |
RGD |
PMID:28246365 |
RGD:39128243 |
NCBI chr 8:3,621,268...3,624,689
Ensembl chr 8:3,618,161...3,624,043
|
|
|
G |
IL1RL1 |
interleukin 1 receptor like 1 |
treatment |
ISO |
mRNA:increased expression:brain: |
RGD |
PMID:23148283 PMID:24657070 |
RGD:11561855 RGD:40400713 |
NCBI chr10:40,658,191...40,732,097
Ensembl chr10:40,659,041...40,677,357
|
|
G |
IL33 |
interleukin 33 |
|
ISO |
protein:increased expression:brain: |
RGD |
PMID:23148283 PMID:24076431 |
RGD:40400713 RGD:40400715 |
NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
|
|
G |
IL5 |
interleukin 5 |
|
ISO |
|
RGD |
PMID:8361777 |
RGD:11354948 |
NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
|
|
G |
MAG |
myelin associated glycoprotein |
disease_progression |
ISO |
|
RGD |
PMID:20399564 |
RGD:27226693 |
NCBI chr 1:117,288,306...117,301,975
Ensembl chr 1:117,288,343...117,302,386
|
|
G |
MBP |
myelin basic protein |
disease_progression |
ISO |
|
RGD |
PMID:20399564 |
RGD:27226693 |
NCBI chr 1:2,841,801...2,952,553
Ensembl chr 1:2,846,589...2,951,860
|
|
G |
MOBP |
myelin associated oligodendrocyte basic protein |
disease_progression |
ISO |
|
RGD |
PMID:20399564 |
RGD:27226693 |
NCBI chr23:9,121,277...9,176,128
Ensembl chr23:9,121,319...9,161,972
|
|
|
G |
CD40 |
CD40 molecule |
|
ISO |
protein:increased expression:plasmacytoid dendritic cell |
RGD |
PMID:20702728 |
RGD:5490530 |
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
|
|
|
G |
CCL5 |
C-C motif chemokine ligand 5 |
|
ISO |
mRNA, protein:increased expression:blood vessel endothelial cell |
RGD |
PMID:15710456 |
RGD:2307183 |
NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
|
|
G |
CCR2 |
C-C motif chemokine receptor 2 |
|
ISO |
|
RGD |
PMID:19741601 |
RGD:8661685 |
NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
|
|
G |
FOXP3 |
forkhead box P3 |
|
ISO |
mRNA:decreased expression:placenta: |
RGD |
PMID:21923716 |
RGD:38501105 |
NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758
|
|
G |
HSPD1 |
heat shock protein family D (Hsp60) member 1 |
|
ISO |
|
RGD |
PMID:8881756 |
RGD:12910478 |
NCBI chr37:7,010,421...7,025,912
|
|
G |
IDO1 |
indoleamine 2,3-dioxygenase 1 |
|
ISO |
|
RGD |
PMID:31231617 |
RGD:39939039 |
NCBI chr16:25,391,759...25,407,161
Ensembl chr16:25,391,754...25,407,048
|
|
G |
IL17A |
interleukin 17A |
|
ISO |
mRNA,protein:increased expression:placenta: |
RGD |
PMID:21923716 |
RGD:38501105 |
NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
|
|
G |
IL21 |
interleukin 21 |
|
ISO |
|
RGD |
PMID:23667536 |
RGD:127285360 |
NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266
|
|
G |
IL23A |
interleukin 23 subunit alpha |
|
ISO |
|
RGD |
PMID:15265921 |
RGD:39457943 |
NCBI chr10:635,384...640,715
Ensembl chr10:638,719...640,359
|
|
G |
IL2RB |
interleukin 2 receptor subunit beta |
ameliorates |
ISO |
|
RGD |
PMID:11286020 |
RGD:42724468 |
NCBI chr10:27,370,797...27,388,775
Ensembl chr10:27,370,797...27,388,775
|
|
G |
IL6 |
interleukin 6 |
|
ISO |
mRNA:increased expression:placenta: |
RGD |
PMID:21923716 |
RGD:38501105 |
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
|
|
G |
LDLR |
low density lipoprotein receptor |
|
ISO |
|
RGD |
PMID:18316222 |
RGD:5490254 |
NCBI chr20:50,115,175...50,152,443
Ensembl chr20:50,048,736...50,152,355
|
|
G |
NR4A2 |
nuclear receptor subfamily 4 group A member 2 |
|
ISO |
|
RGD |
PMID:25855987 |
RGD:11057198 |
NCBI chr36:2,546,237...2,554,559
Ensembl chr36:2,547,421...2,552,780
|
|
G |
RORC |
RAR related orphan receptor C |
|
ISO |
mRNA:increased expression:placenta: |
RGD |
PMID:21923716 |
RGD:38501105 |
NCBI chr17:60,821,498...60,842,485
Ensembl chr17:60,821,981...60,842,453
|
|
G |
STING1 |
stimulator of interferon response cGAMP interactor 1 |
severity |
ISO |
|
RGD |
PMID:31416833 |
RGD:39128220 |
NCBI chr 2:34,783,947...34,792,204
Ensembl chr 2:34,784,232...34,789,072
|
|
|
G |
AGER |
advanced glycosylation end-product specific receptor |
|
ISO |
DNA:SNP:promoter:-374T>A (human) |
RGD |
PMID:22114731 |
RGD:8695981 |
NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
|
|
G |
CCL19 |
C-C motif chemokine ligand 19 |
|
ISO |
associated with Neutropenia;mRNA:increased expression:lung |
RGD |
PMID:19783686 |
RGD:5130908 |
NCBI chr11:51,357,706...51,359,207
Ensembl chr11:51,340,530...51,359,365
|
|
G |
CCR7 |
C-C motif chemokine receptor 7 |
|
ISO |
associated with Neutropenia |
RGD |
PMID:19783686 |
RGD:5130908 |
NCBI chr 9:22,077,976...22,092,818
Ensembl chr 9:22,068,775...22,090,656
|
|
G |
CD209 |
CD209 molecule |
|
ISO |
|
RGD |
PMID:21381282 |
RGD:5131183 |
NCBI chr20:52,517,759...52,542,085
Ensembl chr20:52,518,036...52,520,942
|
|
G |
CFTR |
CF transmembrane conductance regulator |
severity |
ISO |
|
RGD |
PMID:22135344 |
RGD:35673332 |
NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977
|
|
G |
CLEC7A |
C-type lectin domain containing 7A |
susceptibility |
ISO |
ClinVar Annotator: match by term: Aspergillosis, susceptibility to |
OMIM ClinVar |
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 |
|
NCBI chr27:35,852,685...35,885,673
Ensembl chr27:35,853,099...36,007,157
|
|
G |
CLEC7A |
C-type lectin domain containing 7A |
susceptibility |
ISO |
ClinVar Annotator: match by term: Aspergillosis, susceptibility to |
OMIM ClinVar |
PMID:29489751 |
|
NCBI chr27:35,896,421...35,920,649
Ensembl chr27:35,853,099...36,007,157
|
|
G |
CRP |
C-reactive protein |
treatment |
ISO |
|
RGD |
PMID:20879853 |
RGD:9495929 |
NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
|
|
G |
IL15 |
interleukin 15 |
|
ISO |
DNA:polymorphism (human) |
RGD |
PMID:16893395 |
RGD:4981337 |
NCBI chr19:1,339,607...1,364,762
Ensembl chr19:1,339,967...1,364,762
|
|
G |
MBL1 |
mannose binding lectin 1 |
susceptibility |
ISO |
|
RGD |
PMID:20064561 |
RGD:8694071 |
NCBI chr 4:29,419,886...29,424,377
|
|
G |
S100B |
S100 calcium binding protein B |
|
ISO |
DNA:SNP: :427C>T (human) |
RGD |
PMID:22114731 |
RGD:8695981 |
NCBI chr31:39,783,990...39,788,289
Ensembl chr31:39,784,506...39,788,183
|
|
G |
TLR1 |
toll like receptor 1 |
susceptibility |
ISO |
DNA:SNPs: :p.R80T, p.N248S (human) |
RGD |
PMID:16461792 |
RGD:4889535 |
NCBI chr 3:73,504,359...73,544,822
Ensembl chr 3:73,539,715...73,544,624
|
|
G |
TLR2 |
toll like receptor 2 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:19781388 |
RGD:4145322 |
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
|
|
G |
TLR6 |
toll like receptor 6 |
susceptibility |
ISO |
DNA:SNP: :p.S249P (human) |
RGD |
PMID:16461792 |
RGD:4889535 |
NCBI chr 3:73,504,357...73,523,964
Ensembl chr 3:73,520,706...73,523,099
|
|
|
G |
PECAM1 |
platelet and endothelial cell adhesion molecule 1 |
|
ISO |
protein:decreased expression:serum (human) |
RGD |
PMID:25539588 |
RGD:11541121 |
NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778
|
|
|
G |
C3 |
complement C3 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:3361150 |
RGD:11041575 |
NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
|
|
G |
CFB |
complement factor B |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:3361150 |
RGD:11041575 |
NCBI chr12:1,400,143...1,406,267
|
|
G |
CXCL10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
|
RGD |
PMID:14507644 |
RGD:5135450 |
NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979
|
|
|
G |
CD1D |
CD1d molecule |
ameliorates |
ISO |
associated with endotoxemia |
RGD |
PMID:32154791 |
RGD:127345119 |
NCBI chr38:23,489,169...23,491,712
|
|
G |
EPHB2 |
EPH receptor B2 |
exacerbates |
ISO |
|
RGD |
PMID:33685996 |
RGD:127229905 |
NCBI chr 2:76,427,112...76,551,494
Ensembl chr 2:76,428,203...76,612,786
|
|
|
G |
AIRE |
autoimmune regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12050215 |
|
NCBI chr31:38,139,513...38,149,294
Ensembl chr31:38,139,099...38,149,296
|
|
G |
CHRM2 |
cholinergic receptor muscarinic 2 |
|
ISO |
|
RGD |
PMID:19958780 |
RGD:5509581 |
NCBI chr16:11,515,727...11,665,651
Ensembl chr16:11,515,426...11,664,977
|
|
G |
IL33 |
interleukin 33 |
treatment |
ISO |
|
RGD |
PMID:22661085 |
RGD:40400896 |
NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
|
|
G |
LTF |
lactotransferrin |
|
ISO |
|
RGD |
PMID:17922408 |
RGD:7243948 |
NCBI chr20:42,231,994...42,263,202
Ensembl chr20:42,231,994...42,263,202
|
|
G |
MAPK8 |
mitogen-activated protein kinase 8 |
ameliorates |
ISO |
|
RGD |
PMID:28112734 |
RGD:150340684 |
NCBI chr28:323,361...410,367
Ensembl chr28:368,513...406,401
|
|
G |
NCR1 |
natural cytotoxicity triggering receptor 1 |
disease_progression |
ISO |
|
RGD |
PMID:27736647 |
RGD:40818241 |
NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620
|
|
G |
RIPK3 |
receptor interacting serine/threonine kinase 3 |
exacerbates |
ISO |
|
RGD |
PMID:30944411 |
RGD:127229913 |
NCBI chr 8:4,304,167...4,309,514
Ensembl chr 8:4,305,250...4,309,325
|
|
|
G |
CLEC7A |
C-type lectin domain containing 7A |
|
ISO |
ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis |
OMIM ClinVar |
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr27:35,852,685...35,885,673
Ensembl chr27:35,853,099...36,007,157
|
|
|
G |
IL17F |
interleukin 17F |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 6 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:21350122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30290665 PMID:32185379 More...
|
|
NCBI chr12:19,904,283...19,908,497
Ensembl chr12:19,904,126...19,908,619
|
|
|
G |
TRAF3IP2 |
TRAF3 interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 8 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20953186 PMID:20953188 PMID:22513239 PMID:22581863 PMID:24033266 PMID:24120361 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr12:68,029,861...68,070,901
Ensembl chr12:68,030,197...68,058,518
|
|
|
G |
BRK1 |
BRICK1 subunit of SCAR/WAVE actin nucleating complex |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:8,220,109...8,231,337
Ensembl chr20:8,221,575...8,231,258
|
|
G |
CIDEC |
cell death inducing DFFA like effector c |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:8,386,334...8,402,076
Ensembl chr20:8,386,415...8,401,774
|
|
G |
CRELD1 |
cysteine rich with EGF like domains 1 |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr20:8,333,911...8,342,429
|
|
G |
EMC3 |
ER membrane protein complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:8,297,263...8,316,405
Ensembl chr20:8,297,274...8,315,426
|
|
G |
FANCD2 |
FA complementation group D2 |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568
|
|
G |
FANCD2OS |
FANCD2 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:8,236,303...8,239,662
Ensembl chr20:8,236,445...8,239,193
|
|
G |
IL17RC |
interleukin 17 receptor C |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25918342 PMID:28492532 More...
|
|
NCBI chr20:8,342,622...8,355,996
Ensembl chr20:8,334,345...8,355,387
|
|
G |
IL17RE |
interleukin 17 receptor E |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:8,356,150...8,376,175
Ensembl chr20:8,356,728...8,367,658
|
|
G |
JAGN1 |
jagunal homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:8,372,981...8,376,089
Ensembl chr20:8,373,316...8,376,085
|
|
G |
PRRT3 |
proline rich transmembrane protein 3 |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:8,325,232...8,333,155
Ensembl chr20:8,328,943...8,332,954
|
|
G |
VHL |
von Hippel-Lindau tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Candidiasis, familial, 9 |
ClinVar |
PMID:28492532 |
|
NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323
|
|
|
G |
ACE2 |
angiotensin converting enzyme 2 |
susceptibility |
ISO |
DNA:SNP:intron 1: C>T |
RGD |
PMID:20117248 |
RGD:40818420 |
NCBI chr X:11,798,839...11,839,591
Ensembl chr X:11,798,839...11,900,594
|
|
G |
AQP4 |
aquaporin 4 |
disease_progression |
ISO |
protein:increased expression:astrocyte: |
RGD |
PMID:21904632 |
RGD:8698661 |
NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
|
|
G |
CAST |
calpastatin |
|
ISO |
protein:increased express:brain |
RGD |
PMID:16236382 |
RGD:5509817 |
NCBI chr 3:12,920,514...13,031,974
Ensembl chr 3:12,922,453...13,031,959
|
|
G |
CD36 |
CD36 molecule |
|
ISO |
|
RGD |
PMID:17367535 |
RGD:6893527 |
NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639
|
|
G |
CLEC12A |
C-type lectin domain family 12 member A |
ameliorates |
ISO |
|
RGD |
PMID:31269448 |
RGD:41412201 |
NCBI chr27:36,040,574...36,051,249
Ensembl chr27:36,040,577...36,051,184
|
|
G |
IL1RL1 |
interleukin 1 receptor like 1 |
treatment |
ISO |
|
RGD |
PMID:25682948 |
RGD:40400741 |
NCBI chr10:40,658,191...40,732,097
Ensembl chr10:40,659,041...40,677,357
|
|
G |
IL33 |
interleukin 33 |
treatment |
ISO |
protein:increased expression:brain |
RGD |
PMID:25659095 PMID:25682948 |
RGD:39938955 RGD:40400741 |
NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
|
|
G |
JAK3 |
Janus kinase 3 |
|
ISO |
|
RGD |
PMID:22363534 |
RGD:11531103 |
NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805
|
|
G |
LTA |
lymphotoxin alpha |
|
ISO |
|
RGD |
PMID:12021316 |
RGD:10449455 |
NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
|
|
G |
NRG1 |
neuregulin 1 |
treatment |
ISO |
mRNA, protein:increased expression:cerebral cortex (mouse) human protein in a mouse model |
RGD |
PMID:24433482 PMID:29636063 |
RGD:39456084 RGD:39456102 |
NCBI chr16:31,697,958...32,771,888
Ensembl chr16:31,706,851...32,771,932
|
|
G |
PIK3CG |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
|
ISO |
|
RGD |
PMID:25775137 |
RGD:38599200 |
NCBI chr18:13,576,966...13,611,748
Ensembl chr18:13,570,999...13,611,141
|
|
G |
PRKAA2 |
protein kinase AMP-activated catalytic subunit alpha 2 |
|
ISO |
mRNA:decreased expression:brain (mouse) |
RGD |
PMID:29107705 |
RGD:39456137 |
NCBI chr 5:52,809,792...52,855,072
Ensembl chr 5:52,815,609...52,876,609
|
|
G |
TNFRSF1B |
TNF receptor superfamily member 1B |
|
ISO |
|
RGD |
PMID:12228317 |
RGD:5131158 |
NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
|
|
|
G |
NFKB1 |
nuclear factor kappa B subunit 1 |
severity |
ISO |
|
RGD |
PMID:20156658 |
RGD:40902838 |
NCBI chr32:23,948,598...24,040,704
Ensembl chr32:23,942,954...24,040,703
|
|
|
G |
MUC2 |
mucin 2, oligomeric mucus/gel-forming |
|
ISO |
|
RGD |
PMID:17187651 |
RGD:7349350 |
NCBI chr18:45,416,347...45,438,226
|
|
|
G |
CXCL8 |
C-X-C motif chemokine ligand 8 |
disease_progression |
ISO |
DNA:SNP:promoter:g.-251A>T (rs4073) (human) |
RGD |
PMID:22537745 |
RGD:39939013 |
NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
|
|
G |
HLA-DRB1 |
MHC class II DLA DRB1 beta chain |
susceptibility |
ISO |
DNA:polymorphism:exon (human) |
RGD |
PMID:19811437 |
RGD:5147589 |
NCBI chr12:2,151,409...2,164,564
|
|
G |
IL10 |
interleukin 10 |
treatment |
ISO |
|
RGD |
PMID:24055715 |
RGD:7364866 |
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
|
|
G |
IL23A |
interleukin 23 subunit alpha |
|
ISO |
|
RGD |
PMID:28356392 |
RGD:39457935 |
NCBI chr10:635,384...640,715
Ensembl chr10:638,719...640,359
|
|
G |
MBL1 |
mannose binding lectin 1 |
severity |
ISO |
|
RGD |
PMID:26745156 |
RGD:11076757 |
NCBI chr 4:29,419,886...29,424,377
|
|
G |
PCNA |
proliferating cell nuclear antigen |
|
ISO |
protein:increased expression:myocardium: |
RGD |
PMID:12435130 |
RGD:10448990 |
NCBI chr24:16,478,774...16,485,992
Ensembl chr24:16,478,769...16,484,992
|
|
G |
PIK3CG |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
disease_progression |
ISO |
mRNA:increased expression:heart (human) mRNA:increased expression:heart (mouse) |
RGD |
PMID:29666415 |
RGD:38599151 |
NCBI chr18:13,576,966...13,611,748
Ensembl chr18:13,570,999...13,611,141
|
|
|
G |
CCL2 |
C-C motif chemokine ligand 2 |
|
ISO |
|
RGD |
PMID:16844401 |
RGD:2307145 |
NCBI chr 9:39,008,187...39,009,932
|
|
G |
CCL5 |
C-C motif chemokine ligand 5 |
|
ISO |
|
RGD |
PMID:20452453 |
RGD:4889906 |
NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852
|
|
G |
CHRM2 |
cholinergic receptor muscarinic 2 |
|
ISO |
|
RGD |
PMID:9148906 |
RGD:5509585 |
NCBI chr16:11,515,727...11,665,651
Ensembl chr16:11,515,426...11,664,977
|
|
G |
F2 |
coagulation factor II, thrombin |
|
ISO |
protein:increased expression:blood plasma (human) |
RGD |
PMID:20699256 PMID:21866301 |
RGD:40818435 RGD:5147778 |
NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
|
|
G |
HLA-DRB1 |
MHC class II DLA DRB1 beta chain |
susceptibility |
ISO |
DNA:polymorphisms:exon (human) |
RGD |
PMID:19811437 |
RGD:5147589 |
NCBI chr12:2,151,409...2,164,564
|
|
G |
HSPA4 |
heat shock protein family A (Hsp70) member 4 |
|
ISO |
|
RGD |
PMID:21801456 |
RGD:6218957 |
NCBI chr11:21,290,603...21,363,701
Ensembl chr11:21,290,621...21,505,122
|
|
G |
IFNG |
interferon gamma |
|
ISO |
|
RGD |
PMID:10684988 |
RGD:10755744 |
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
|
|
G |
IL23A |
interleukin 23 subunit alpha |
susceptibility |
ISO |
|
RGD |
PMID:23182712 |
RGD:39457956 |
NCBI chr10:635,384...640,715
Ensembl chr10:638,719...640,359
|
|
G |
LOC102156778 |
bone marrow proteoglycan-like |
|
ISO |
mRNA:increased expression:plancenta (human) |
RGD |
PMID:29545200 |
RGD:40902989 |
NCBI chr18:38,753,269...38,760,730
|
|
G |
SOAT1 |
sterol O-acyltransferase 1 |
ameliorates |
ISO |
DNA:SNP:exon: rs1044925 (human) |
RGD |
PMID:31236660 |
RGD:126925205 |
NCBI chr 7:20,481,386...20,556,706
Ensembl chr 7:20,486,069...20,546,055
|
|
G |
VIM |
vimentin |
severity |
ISO |
protein:increased expression:plasma |
RGD |
PMID:22199233 |
RGD:6480538 |
NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466
|
|
|
G |
IL17RA |
interleukin 17 receptor A |
|
ISO |
ClinVar Annotator: match by term: Familial Candidiasis, Recessive |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr27:44,798,960...44,812,287
Ensembl chr27:44,791,066...44,811,064
|
|
G |
MAPK8 |
mitogen-activated protein kinase 8 |
|
ISO |
associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human) |
RGD |
PMID:31784499 |
RGD:150340677 |
NCBI chr28:323,361...410,367
Ensembl chr28:368,513...406,401
|
|
G |
STAT1 |
signal transducer and activator of transcription 1 |
|
ISO |
ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis |
ClinVar |
PMID:21714643 PMID:21727188 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24343863 PMID:25741868 PMID:26255980 PMID:26494717 PMID:26604104 PMID:28161409 PMID:28427548 PMID:28492532 PMID:28815025 More...
|
|
NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178
|
|
|
G |
RELA |
RELA proto-oncogene, NF-kB subunit |
|
ISO |
ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28600438 |
|
NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875
|
|
|
G |
FAS |
Fas cell surface death receptor |
|
ISO |
mRNA, protein:increased expression:liver |
RGD |
PMID:18427836 |
RGD:2315733 |
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
|
|
G |
FASLG |
Fas ligand |
|
ISO |
mRNA, protein:increased expression:liver |
RGD |
PMID:18427836 |
RGD:2315733 |
NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
|
|
G |
IL33 |
interleukin 33 |
|
ISO |
mRNA,protein:increased expression:liver, serum: protein:increased expression:serum: |
RGD |
PMID:26944417 |
RGD:39939001 |
NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
|
|
G |
TLR2 |
toll like receptor 2 |
|
ISO |
|
RGD |
PMID:28784165 |
RGD:15090810 |
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
|
|
|
G |
IL2RB |
interleukin 2 receptor subunit beta |
exacerbates |
ISO |
|
RGD |
PMID:20460838 |
RGD:42724464 |
NCBI chr10:27,370,797...27,388,775
Ensembl chr10:27,370,797...27,388,775
|
|
|
G |
CD274 |
CD274 molecule |
treatment |
ISO |
|
RGD |
PMID:29058791 |
RGD:41412178 |
NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522
|
|
G |
MBL1 |
mannose binding lectin 1 |
susceptibility |
ISO |
associated with HIV Infections;DNA:polymorphism:cds: |
RGD |
PMID:21592999 |
RGD:12910861 |
NCBI chr 4:29,419,886...29,424,377
|
|
G |
PDCD1 |
programmed cell death 1 |
treatment |
ISO |
|
RGD |
PMID:29058791 |
RGD:41412178 |
NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
|
|
|
G |
BTK |
Bruton tyrosine kinase |
exacerbates |
ISO |
|
RGD |
PMID:23820392 |
RGD:124715476 |
NCBI chr X:75,270,952...75,302,663
Ensembl chr X:75,270,979...75,302,562
|
|
G |
CCL2 |
C-C motif chemokine ligand 2 |
|
ISO |
mRNA, protein:increased expression:lung (mouse) |
RGD |
PMID:11714821 |
RGD:11528563 |
NCBI chr 9:39,008,187...39,009,932
|
|
G |
CD40 |
CD40 molecule |
treatment |
ISO |
|
RGD |
PMID:16552046 |
RGD:7248435 |
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
|
|
G |
CD86 |
CD86 molecule |
|
ISO |
protein:increased expression:lung, dendritic cell (mouse) |
RGD |
PMID:16790753 |
RGD:4892554 |
NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
|
|
G |
CHIA |
chitinase acidic |
|
ISO |
protein:increased expression:lung (rat) |
RGD |
PMID:18482441 |
RGD:4990459 |
NCBI chr 6:40,754,906...40,766,779
Ensembl chr 6:40,754,993...40,766,891
|
|
G |
CXCL8 |
C-X-C motif chemokine ligand 8 |
|
ISO |
mRNA:increased expression:lung (mouse) |
RGD |
PMID:27596810 |
RGD:38549345 |
NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
|
|
G |
IL23A |
interleukin 23 subunit alpha |
severity |
ISO |
|
RGD |
PMID:16393998 PMID:22342846 |
RGD:39457936 RGD:39458042 |
NCBI chr10:635,384...640,715
Ensembl chr10:638,719...640,359
|
|
G |
IL33 |
interleukin 33 |
|
ISO |
mRNA:increased expression:lung (mouse) |
RGD |
PMID:27596810 |
RGD:38549345 |
NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
|
|
G |
IL4R |
interleukin 4 receptor |
|
ISO |
|
RGD |
PMID:18954266 |
RGD:4890005 |
NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291
|
|
G |
MARCO |
macrophage receptor with collagenous structure |
disease_progression |
ISO |
|
RGD |
PMID:28298522 |
RGD:41412191 |
NCBI chr19:30,996,209...31,034,520
Ensembl chr19:30,996,347...31,034,487
|
|
G |
SFTPC |
surfactant protein C |
|
ISO |
mRNA:increased expression:lung (mouse) |
RGD |
PMID:27596810 |
RGD:38549345 |
NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457
|
|
|
G |
MBL1 |
mannose binding lectin 1 |
susceptibility |
ISO |
DNA:polymorphisms, haplotype:promoter,exon: |
RGD |
PMID:19827946 |
RGD:12910843 |
NCBI chr 4:29,419,886...29,424,377
|
|
G |
MIR21 |
microRNA mir-21 |
|
ISO |
RNA:increased expression:ileum |
RGD |
PMID:25838265 |
RGD:40925950 |
NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
|
|
|
G |
CAT |
catalase |
|
ISO |
protein:decreased activity:erythrocyte: |
RGD |
PMID:9892499 |
RGD:9479188 |
NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
|
|
G |
CCL2 |
C-C motif chemokine ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20102417 |
|
NCBI chr 9:39,008,187...39,009,932
|
|
G |
CCR1 |
chemokine (C-C motif) receptor 1 |
|
ISO |
|
RGD |
PMID:12874303 |
RGD:5688168 |
NCBI chr20:42,421,356...42,427,177
Ensembl chr20:42,421,356...42,426,958
|
|
G |
CCR2 |
C-C motif chemokine receptor 2 |
|
ISO |
mRNA:increased expression:foot, lymph node |
RGD |
PMID:12874303 |
RGD:5688168 |
NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
|
|
G |
CCR5 |
C-C motif chemokine receptor 5 |
no_association |
ISO |
DNA:frameshift mutation: :p.S185_T195del (rs333) (human) |
RGD |
PMID:17214851 PMID:23632983 |
RGD:8549764 RGD:8549765 |
NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952
|
|
G |
CD163 |
CD163 molecule |
|
ISO |
mRNA, protein:increased expression:skin of body, blood plasma, CD14-positive monocyte (human) |
RGD |
PMID:32023254 |
RGD:127345130 |
NCBI chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106
|
|
G |
CD274 |
CD274 molecule |
|
ISO |
|
RGD |
PMID:16358363 |
RGD:41410801 |
NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522
|
|
G |
COL1A1 |
collagen type I alpha 1 chain |
|
ISO |
DNA:SNPs: :rs1061237, rs2586488 (human) |
RGD |
PMID:25562121 |
RGD:11041176 |
NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
|
|
G |
CXCL8 |
C-X-C motif chemokine ligand 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20102417 |
|
NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
|
|
G |
FOXP3 |
forkhead box P3 |
|
ISO |
mRNA:increased expression:Peripheral blood mononuclear cell: |
RGD |
PMID:29205403 |
RGD:38455981 |
NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758
|
|
G |
IFNG |
interferon gamma |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD RGD |
PMID:8154019 PMID:9234779 PMID:20102417 PMID:27999013 |
RGD:40890273 |
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
|
|
G |
IL10 |
interleukin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism mRNA:increased expression:Peripheral blood mononuclear cell: |
CTD RGD |
PMID:20102417 PMID:29205403 |
RGD:38455981 |
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
|
|
G |
IL13 |
interleukin 13 |
treatment |
ISO |
|
RGD |
PMID:12739821 PMID:18924210 |
RGD:8549536 RGD:8549561 |
NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
|
|
G |
IL17A |
interleukin 17A |
|
ISO |
mRNA:increased expression:Peripheral blood mononuclear cell: |
RGD |
PMID:29205403 |
RGD:38455981 |
NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
|
|
G |
IL1B |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20102417 |
|
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
|
|
G |
IL23A |
interleukin 23 subunit alpha |
|
ISO |
|
RGD |
PMID:29078003 |
RGD:39457938 |
NCBI chr10:635,384...640,715
Ensembl chr10:638,719...640,359
|
|
G |
IL32 |
interleukin 32 |
ameliorates susceptibility |
ISO |
DNA:SNPs:enhancers: (rs4786370, rs4349147) (human) |
RGD |
PMID:28709468 PMID:32023240 |
RGD:150340717 RGD:150340742 |
NCBI chr 6:38,119,287...38,122,979
|
|
G |
IL4 |
interleukin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20102417 |
|
NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
|
|
G |
KLRK1 |
killer cell lectin like receptor K1 |
treatment |
ISO |
associated with lymphocytic choriomeningitis |
RGD |
PMID:26290604 |
RGD:39128165 |
NCBI chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882
|
|
G |
LTA |
lymphotoxin alpha |
no_association |
ISO |
DNA:SNP:intron:252A>G (human) |
RGD |
PMID:16950634 |
RGD:8548800 |
NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
|
|
G |
LTB |
lymphotoxin beta |
|
ISO |
|
RGD |
PMID:17911622 |
RGD:8548820 |
NCBI chr12:1,079,340...1,084,785
Ensembl chr12:1,079,358...1,081,153
|
|
G |
MMP2 |
matrix metallopeptidase 2 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:21091666 |
RGD:8657030 |
NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
|
|
G |
PDCD1LG2 |
programmed cell death 1 ligand 2 |
|
ISO |
|
RGD |
PMID:16358363 |
RGD:41410801 |
NCBI chr 1:93,631,676...93,698,560
Ensembl chr 1:93,631,979...93,689,266
|
|
G |
PIK3CD |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
treatment |
ISO |
|
RGD |
PMID:27999013 |
RGD:40890273 |
NCBI chr 5:62,884,596...62,936,882
Ensembl chr 5:62,909,009...62,935,971
|
|
G |
SLC11A1 |
solute carrier family 11 member 1 |
|
ISO |
DNA:insertion/deletion (human) |
RGD |
PMID:20089160 |
RGD:5684930 |
NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282
|
|
G |
SOD1 |
superoxide dismutase 1 |
|
ISO |
protein:increased activity:erythrocyte: |
RGD |
PMID:9892499 |
RGD:9479188 |
NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
|
|
G |
STAT4 |
signal transducer and activator of transcription 4 |
|
ISO |
|
RGD |
PMID:10458767 |
RGD:8661703 |
NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894
|
|
G |
TLR2 |
toll like receptor 2 |
|
ISO |
protein:decreased expression:skin: |
RGD |
PMID:20493664 |
RGD:7794748 |
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
|
|
G |
TLR4 |
toll like receptor 4 |
|
ISO |
protein:decreased expression:skin: |
RGD |
PMID:20493664 |
RGD:7794748 |
NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
|
|
G |
TLR9 |
toll like receptor 9 |
|
ISO |
protein:decreased expression:skin: |
RGD |
PMID:20493664 |
RGD:7794748 |
NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114 Ensembl chr20:37,542,340...37,547,114
|
|
G |
TNF |
tumor necrosis factor |
no_association |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNP:promoter:-308G>A (rs1800629) (human) |
CTD RGD |
PMID:16950634 PMID:20102417 |
RGD:8548800 |
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
|
|
|
G |
HLA-DRB1 |
MHC class II DLA DRB1 beta chain |
|
ISO |
DNA:polymorphism: :HLA-DRB1*03, DRB1*07(human) |
RGD |
PMID:22308705 |
RGD:36174019 |
NCBI chr12:2,151,409...2,164,564
|
|
G |
IL4 |
interleukin 4 |
treatment |
ISO |
|
RGD |
PMID:25726962 |
RGD:14696685 |
NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
|
|
G |
TLR2 |
toll like receptor 2 |
disease_progression |
ISO |
DNA:mutation:cds:Arg753Gln(human) mRNA:increased expression:peripheral blood monocyte: |
RGD |
PMID:21923667 PMID:31437685 |
RGD:15090825 RGD:18182935 |
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
|
|
G |
TLR4 |
toll like receptor 4 |
|
ISO |
mRNA:increased expression:peripheral blood monocyte: |
RGD |
PMID:21923667 |
RGD:18182935 |
NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
|
|
|
G |
ABO |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
|
ISO |
|
RGD |
PMID:2142987 |
RGD:5128834 |
NCBI chr 9:49,746,749...49,758,317
Ensembl chr 9:49,748,693...49,758,479
|
|
G |
ALB |
albumin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24270252 |
|
NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709
|
|
G |
IL5 |
interleukin 5 |
|
ISO |
mRNA: increased expression: : peritoneal lavage cells |
RGD |
PMID:21912714 |
RGD:5687176 |
NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
|
|
G |
LOC477072 |
serotransferrin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24270252 |
|
NCBI chr23:30,658,250...30,683,816
Ensembl chr23:30,595,704...30,683,845
|
|
G |
LOC609402 |
hemoglobin subunit beta-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24270252 |
|
NCBI chr21:28,187,535...28,188,991
|
|
|
G |
IL21 |
interleukin 21 |
|
ISO |
protein:increased expression:CD4-positive helper T cell (mouse) |
RGD |
PMID:26597007 |
RGD:11086452 |
NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266
|
|
|
G |
IFNG |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16374615 PMID:29255076 |
RGD:14975099 |
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
|
|
G |
IL10 |
interleukin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16374615 |
|
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
|
|
G |
IL1B |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16374615 |
|
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
|
|
G |
IL2 |
interleukin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16374615 |
|
NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
|
|
G |
IL5 |
interleukin 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16374615 |
|
NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
|
|
G |
IL6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16374615 |
|
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
|
|
G |
NFKB1 |
nuclear factor kappa B subunit 1 |
severity |
ISO |
|
RGD |
PMID:20086086 |
RGD:40902842 |
NCBI chr32:23,948,598...24,040,704
Ensembl chr32:23,942,954...24,040,703
|
|
G |
TLR4 |
toll like receptor 4 |
|
ISO |
|
RGD |
PMID:15910421 |
RGD:7241086 |
NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
|
|
|
G |
CTSB |
cathepsin B |
|
ISO |
protein:decreased activity:liver (rat) |
RGD |
PMID:19696938 |
RGD:2315504 |
NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801
|
|
G |
GLUD1 |
glutamate dehydrogenase 1 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:10431747 |
RGD:6484593 |
NCBI chr 4:34,629,046...34,662,711
|
|
|
G |
IL1RL1 |
interleukin 1 receptor like 1 |
|
ISO |
|
RGD |
PMID:27592711 |
RGD:40400889 |
NCBI chr10:40,658,191...40,732,097
Ensembl chr10:40,659,041...40,677,357
|
|
G |
LOC102156778 |
bone marrow proteoglycan-like |
|
ISO |
|
RGD |
PMID:24626328 |
RGD:40903014 |
NCBI chr18:38,753,269...38,760,730
|
|
|
G |
CD274 |
CD274 molecule |
|
ISO |
mRNA, protein:increased expression:liver |
RGD |
PMID:25907244 |
RGD:41412175 |
NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522
|
|
G |
IGF2 |
insulin like growth factor 2 |
|
ISO |
protein:decreased expression:serum |
RGD |
PMID:12927688 |
RGD:5509967 |
NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
|
|
G |
PDCD1 |
programmed cell death 1 |
|
ISO |
mRNA, protein:increased expression:liver |
RGD |
PMID:25907244 |
RGD:41412175 |
NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
|
|
|
G |
KRT18 |
keratin 18 |
disease_progression |
ISO |
protein:increased expression:serum (mouse, human) |
RGD |
PMID:21357724 |
RGD:21406434 |
NCBI chr27:2,189,269...2,193,368
Ensembl chr27:2,189,269...2,193,368
|
|
G |
SERPINF1 |
serpin family F member 1 |
|
ISO |
|
RGD |
PMID:9038736 |
RGD:30296660 |
NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765
|
|
|
G |
IL1RL1 |
interleukin 1 receptor like 1 |
|
ISO |
|
RGD |
PMID:22329990 |
RGD:39938827 |
NCBI chr10:40,658,191...40,732,097
Ensembl chr10:40,659,041...40,677,357
|
|
G |
IL33 |
interleukin 33 |
|
ISO |
mRNA,protein:increased expression:Bronchoalveolar lavage, epithelium, macrophage |
RGD |
PMID:22329990 |
RGD:39938827 |
NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
|
|
G |
TFF2 |
trefoil factor 2 |
|
ISO |
|
RGD |
PMID:22329990 |
RGD:39938827 |
NCBI chr31:36,665,647...36,668,423
Ensembl chr31:36,665,514...36,668,440
|
|
|
G |
ABCA2 |
ATP binding cassette subfamily A member 2 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,610,906...48,630,932
Ensembl chr 9:48,613,996...48,629,857
|
|
G |
AGPAT2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,864,300...48,877,627
Ensembl chr 9:48,864,376...48,877,620
|
|
G |
AJM1 |
apical junction component 1 homolog |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,738,344...48,744,604
|
|
G |
C8G |
complement C8 gamma chain |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,672,332...48,674,190
Ensembl chr 9:48,672,333...48,673,854
|
|
G |
CARD9 |
caspase recruitment domain family member 9 |
susceptibility |
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
OMIM ClinVar |
PMID:9536098 PMID:9835960 PMID:16199547 PMID:17576681 PMID:19864672 PMID:21983784 PMID:22730530 PMID:23335372 PMID:24033266 PMID:24068945 PMID:24131138 PMID:24231284 PMID:24704721 PMID:25702837 PMID:25731871 PMID:25741868 PMID:25933095 PMID:26038974 PMID:26521038 PMID:26679537 PMID:26961233 PMID:27490946 PMID:27777981 PMID:28252032 PMID:28492532 PMID:28842327 PMID:29080677 PMID:29307770 PMID:29890237 PMID:30136218 PMID:30429846 PMID:30537277 PMID:30809743 PMID:30837984 PMID:31102464 PMID:31414217 PMID:31469433 PMID:32888943 PMID:33414972 PMID:33558980 PMID:33872781 PMID:34234782 PMID:35628702 More...
|
|
NCBI chr 9:49,110,913...49,120,758
Ensembl chr 9:49,113,923...49,120,591
|
|
G |
CCDC183 |
coiled-coil domain containing 183 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,768,012...48,775,191
|
|
G |
CLIC3 |
chloride intracellular channel 3 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,634,061...48,637,083
Ensembl chr 9:48,634,878...48,637,015
|
|
G |
DIPK1B |
divergent protein kinase domain 1B |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,836,323...48,844,827
Ensembl chr 9:48,837,035...48,845,482
|
|
G |
EDF1 |
endothelial differentiation related factor 1 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,722,918...48,726,358
Ensembl chr 9:48,722,658...48,731,723
|
|
G |
EGFL7 |
EGF like domain multiple 7 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,878,075...48,890,002
Ensembl chr 9:48,878,075...48,895,541
|
|
G |
ENTPD2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,589,408...48,594,852
Ensembl chr 9:48,570,891...48,594,452
|
|
G |
ENTR1 |
endosome associated trafficking regulator 1 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:49,083,368...49,089,608
Ensembl chr 9:49,083,499...49,089,023
|
|
G |
FBXW5 |
F-box and WD repeat domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,674,299...48,678,846
Ensembl chr 9:48,673,456...48,679,128
|
|
G |
FUT7 |
fucosyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,604,879...48,609,292
Ensembl chr 9:48,606,435...48,609,303
|
|
G |
INPP5E |
inositol polyphosphate-5-phosphatase E |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:49,061,014...49,071,474
Ensembl chr 9:49,061,968...49,070,191
|
|
G |
LCN10 |
lipocalin 10 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,806,874...48,810,266
|
|
G |
LCN12 |
lipocalin 12 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,663,181...48,669,264
Ensembl chr 9:48,665,943...48,668,859
|
|
G |
LCN15 |
lipocalin 15 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,784,995...48,789,272
Ensembl chr 9:48,769,526...48,794,188
|
|
G |
LCN6 |
lipocalin 6 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,800,699...48,805,946
|
|
G |
LCN8 |
lipocalin 8 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,789,948...48,796,002
Ensembl chr 9:48,769,526...48,794,188
|
|
G |
LCNL1 |
lipocalin like 1 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,643,845...48,647,187
|
|
G |
LOC480667 |
endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,533,962...48,545,514
Ensembl chr 9:48,533,962...48,545,344
|
|
G |
LOC606974 |
UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,528,738...48,532,888
|
|
G |
MAMDC4 |
MAM domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,726,392...48,736,173
Ensembl chr 9:48,727,523...48,734,820
|
|
G |
MIR126 |
microRNA mir-126 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,879,438...48,879,496
Ensembl chr 9:48,879,432...48,879,504
|
|
G |
NOTCH1 |
notch receptor 1 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277
|
|
G |
NPDC1 |
neural proliferation, differentiation and control 1 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,596,398...48,601,327
Ensembl chr 9:48,596,398...48,611,437
|
|
G |
PAXX |
PAXX non-homologous end joining factor |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,637,735...48,639,289
Ensembl chr 9:48,637,731...48,639,239
|
|
G |
PHPT1 |
phosphohistidine phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,736,310...48,737,771
Ensembl chr 9:48,736,333...48,737,725
|
|
G |
PMPCA |
peptidase, mitochondrial processing subunit alpha |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:49,073,124...49,083,302
Ensembl chr 9:49,073,108...49,224,961
|
|
G |
PTGDS |
prostaglandin D2 synthase |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,647,334...48,650,608
Ensembl chr 9:48,646,255...48,669,814
|
|
G |
RABL6 |
RAB, member RAS oncogene family like 6 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,746,363...48,767,529
Ensembl chr 9:48,594,845...48,770,844
|
|
G |
SAPCD2 |
suppressor APC domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,571,045...48,578,517
Ensembl chr 9:48,570,891...48,594,452
|
|
G |
SEC16A |
SEC16 homolog A, endoplasmic reticulum export factor |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:49,027,190...49,060,858
Ensembl chr 9:49,031,669...49,060,848
|
|
G |
SNAPC4 |
small nuclear RNA activating complex polypeptide 4 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:49,090,615...49,110,763
Ensembl chr 9:49,091,636...49,110,767
|
|
G |
TMEM141 |
transmembrane protein 141 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,777,694...48,779,518
Ensembl chr 9:48,777,958...48,779,448
|
|
G |
TRAF2 |
TNF receptor associated factor 2 |
|
ISO |
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS |
ClinVar |
PMID:19864672 PMID:24131138 PMID:24231284 PMID:28492532 |
|
NCBI chr 9:48,688,071...48,713,936
Ensembl chr 9:48,689,331...48,703,633
|
|
|
G |
IL21R |
interleukin 21 receptor |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 31C |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:19,181,846...19,217,915
Ensembl chr 6:19,182,071...19,217,931
|
|
G |
STAT1 |
signal transducer and activator of transcription 1 |
|
ISO |
ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome |
OMIM ClinVar |
PMID:21714643 PMID:21727188 PMID:22195034 PMID:22730530 PMID:22847544 PMID:23245795 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24188975 PMID:24239102 PMID:24343863 PMID:25042743 PMID:25288569 PMID:25326637 PMID:25367169 PMID:25741868 PMID:26242301 PMID:26255980 PMID:26494717 PMID:26604104 PMID:26743090 PMID:27114460 PMID:27379765 PMID:27577878 PMID:28011069 PMID:28161409 PMID:28258222 PMID:28427548 PMID:28492532 PMID:28597685 PMID:28622416 PMID:28815025 PMID:30317461 PMID:30442829 PMID:31362757 PMID:31448411 PMID:32582194 PMID:33679782 More...
|
|
NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178
|
|
|
G |
ADA2 |
adenosine deaminase 2 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr27:44,883,573...44,912,930
Ensembl chr27:44,884,882...44,912,850
|
|
G |
ARVCF |
ARVCF delta catenin family member |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 51 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr26:29,304,710...29,359,110
Ensembl chr26:29,307,351...29,359,245
|
|
G |
ATP6V1E1 |
ATPase H+ transporting V1 subunit E1 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr27:45,222,647...45,249,317
|
|
G |
BCL2L13 |
BCL2 like 13 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr27:45,257,017...45,345,085
Ensembl chr27:45,257,075...45,337,518
|
|
G |
BID |
BH3 interacting domain death agonist |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr27:45,344,304...45,355,735
Ensembl chr27:45,337,145...45,384,059
|
|
G |
C26H22orf39 |
chromosome 26 C22orf39 homolog |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr26:29,765,870...29,770,079
Ensembl chr26:29,765,936...29,769,471
|
|
G |
CDC45 |
cell division cycle 45 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr26:29,707,523...29,738,599
Ensembl chr26:29,707,564...29,739,252
|
|
G |
CECR2 |
CECR2 histone acetyl-lysine reader |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr27:45,125,909...45,193,577
Ensembl chr27:45,125,723...45,188,890
|
|
G |
CLDN5 |
claudin 5 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr26:29,702,464...29,704,950
Ensembl chr26:29,703,683...29,704,339
|
|
G |
CLTCL1 |
clathrin heavy chain like 1 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr26:29,907,235...30,002,136
Ensembl chr26:29,906,278...30,002,128
|
|
G |
COMT |
catechol-O-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008
|
|
G |
DGCR2 |
DiGeorge syndrome critical region gene 2 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr26:30,051,598...30,143,192
Ensembl chr26:30,054,116...30,141,533
|
|
G |
ESS2 |
ess-2 splicing factor homolog |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr26:30,037,954...30,048,487
Ensembl chr26:30,038,015...30,049,204
|
|
G |
GNB1L |
G protein subunit beta 1 like |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr26:29,454,954...29,511,019
Ensembl chr26:29,454,054...29,510,792
|
|
G |
GP1BB |
glycoprotein Ib platelet subunit beta |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr26:29,567,437...29,568,627
Ensembl chr26:29,528,366...29,568,522
|
|
G |
GSC2 |
goosecoid homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr26:30,033,185...30,034,174
|
|
G |
HDHD5 |
haloacid dehalogenase like hydrolase domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr27:44,843,294...44,856,350
Ensembl chr27:44,843,289...44,849,272
|
|
G |
HIRA |
histone cell cycle regulator |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr26:29,777,984...29,867,992
Ensembl chr26:29,778,086...29,867,559
|
|
G |
IL17RA |
interleukin 17 receptor A |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 | ClinVar Annotator: match by term: Immunodeficiency 51 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 PMID:24552284 PMID:24552285 PMID:25741868 PMID:26607704 PMID:26871944 PMID:27930337 PMID:28492532 More...
|
|
NCBI chr27:44,798,960...44,812,287
Ensembl chr27:44,791,066...44,811,064
|
|
G |
LOC477562 |
proline dehydrogenase 1, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr26:29,039,007...29,059,722
|
|
G |
MICAL3 |
microtubule associated monooxygenase, calponin and LIM domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr27:45,399,370...45,618,306
Ensembl chr27:45,403,392...45,550,055
|
|
G |
MRPL40 |
mitochondrial ribosomal protein L40 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr26:29,773,397...29,777,104
Ensembl chr26:29,773,403...29,777,073
|
|
G |
PEX26 |
peroxisomal biogenesis factor 26 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr27:45,675,537...45,688,026
Ensembl chr27:45,675,472...45,725,681
|
|
G |
SEPTIN5 |
septin 5 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr26:29,568,776...29,573,837
Ensembl chr26:29,569,586...29,573,842
|
|
G |
SLC25A1 |
solute carrier family 25 member 1 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr26:30,002,732...30,006,696
Ensembl chr26:30,002,861...30,005,444
|
|
G |
SLC25A18 |
solute carrier family 25 member 18 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr27:45,196,172...45,221,751
Ensembl chr27:45,196,670...45,221,297
|
|
G |
TANGO2 |
transport and golgi organization 2 homolog |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr26:29,265,489...29,303,814
Ensembl chr26:29,266,256...29,304,164
|
|
G |
TBX1 |
T-box transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784
|
|
G |
TMEM121B |
transmembrane protein 121B |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr27:44,817,642...44,821,498
Ensembl chr27:44,819,642...44,820,310
|
|
G |
TSSK2 |
testis specific serine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
|
|
G |
TUBA8 |
tubulin alpha 8 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr27:45,706,576...45,725,679
Ensembl chr27:45,675,472...45,725,681
|
|
G |
TXNRD2 |
thioredoxin reductase 2 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr26:29,381,823...29,430,239
Ensembl chr26:29,381,975...29,430,206
|
|
G |
UFD1 |
ubiquitin recognition factor in ER associated degradation 1 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr26:29,739,062...29,763,315
Ensembl chr26:29,739,153...29,763,313
|
|
G |
USP18 |
ubiquitin specific peptidase 18 |
|
ISO |
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5 |
ClinVar |
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532 |
|
NCBI chr27:45,739,845...45,814,668
|
|
|
G |
IFNG |
interferon gamma |
|
ISO |
|
RGD |
PMID:29950724 |
RGD:14974257 |
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
|
|
G |
NFKB1 |
nuclear factor kappa B subunit 1 |
disease_progression |
ISO |
|
RGD |
PMID:12370384 |
RGD:40902988 |
NCBI chr32:23,948,598...24,040,704
Ensembl chr32:23,942,954...24,040,703
|
|
G |
NFKB2 |
nuclear factor kappa B subunit 2 |
treatment |
ISO |
|
RGD |
PMID:12370384 |
RGD:40902988 |
NCBI chr28:14,902,212...14,910,437
Ensembl chr28:14,902,706...14,910,395
|
|
|
G |
AGER |
advanced glycosylation end-product specific receptor |
|
ISO |
|
RGD |
PMID:21423669 |
RGD:5508765 |
NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
|
|
G |
CCL2 |
C-C motif chemokine ligand 2 |
severity |
ISO |
|
RGD |
PMID:11160230 |
RGD:11528533 |
NCBI chr 9:39,008,187...39,009,932
|
|
G |
CCL20 |
C-C motif chemokine ligand 20 |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:20926800 |
RGD:7483599 |
NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709
|
|
G |
CCR6 |
C-C motif chemokine receptor 6 |
disease_progression |
ISO |
|
RGD |
PMID:17379855 |
RGD:7483617 |
NCBI chr 1:54,932,798...54,960,646
Ensembl chr 1:54,932,690...54,959,740
|
|
G |
CXCR3 |
C-X-C motif chemokine receptor 3 |
|
ISO |
|
RGD |
PMID:17298426 |
RGD:5135501 |
NCBI chr X:55,882,433...55,884,582
Ensembl chr X:55,882,433...55,884,582
|
|
G |
CYBB |
cytochrome b-245 beta chain |
|
ISO |
|
RGD |
PMID:24054721 |
RGD:10450528 |
NCBI chr X:32,533,365...32,568,149
Ensembl chr X:32,533,320...32,568,217
|
|
G |
ELANE |
elastase, neutrophil expressed |
|
ISO |
|
RGD |
PMID:24054721 |
RGD:10450528 |
NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932
|
|
G |
IL17A |
interleukin 17A |
severity |
ISO |
|
RGD |
PMID:21807912 |
RGD:8698654 |
NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
|
|
G |
MBL1 |
mannose binding lectin 1 |
|
ISO |
DNA:SNP:exon:rs5030737(human) |
RGD |
PMID:17311505 |
RGD:8693758 |
NCBI chr 4:29,419,886...29,424,377
|
|
G |
PTX3 |
pentraxin 3 |
severity |
ISO |
protein:increased expression:bronchoalveolar lavage fluid (human) DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527 |
RGD |
PMID:28487045 PMID:30275011 |
RGD:38501097 RGD:38508892 |
NCBI chr23:50,952,835...50,958,607
Ensembl chr23:50,952,885...50,958,167
|
|
G |
S100B |
S100 calcium binding protein B |
|
ISO |
|
RGD |
PMID:21423669 |
RGD:5508765 |
NCBI chr31:39,783,990...39,788,289
Ensembl chr31:39,784,506...39,788,183
|
|
G |
TLR2 |
toll like receptor 2 |
|
ISO |
|
RGD |
PMID:16113258 |
RGD:8553022 |
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
|
|
G |
TLR4 |
toll like receptor 4 |
susceptibility |
ISO |
DNA:polymorphism:exon:p.D299G(human) |
RGD |
PMID:18275280 |
RGD:5130863 |
NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
|
|
|
G |
ITGAM |
integrin subunit alpha M |
|
ISO |
protein: increased expression: kidney |
RGD |
PMID:21063074 |
RGD:7207265 |
NCBI chr 6:16,944,062...16,996,525
Ensembl chr 6:16,808,971...16,996,286
|
|
G |
PTX3 |
pentraxin 3 |
severity |
ISO |
associated with hematologic cancer;DNA:SNP:intron:rs1840680 |
RGD |
PMID:30275011 |
RGD:38501097 |
NCBI chr23:50,952,835...50,958,607
Ensembl chr23:50,952,885...50,958,167
|
|
|
G |
CCL2 |
C-C motif chemokine ligand 2 |
treatment |
ISO |
|
RGD |
PMID:12917249 |
RGD:11528529 |
NCBI chr 9:39,008,187...39,009,932
|
|
G |
CD209 |
CD209 molecule |
susceptibility |
ISO |
DNA:SNPs:3'utr,intron:multiple |
RGD |
PMID:22384201 |
RGD:39938996 |
NCBI chr20:52,517,759...52,542,085
Ensembl chr20:52,518,036...52,520,942
|
|
G |
FGF2 |
fibroblast growth factor 2 |
treatment |
ISO |
|
RGD |
PMID:23303813 |
RGD:8655596 |
NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
|
|
G |
IL1A |
interleukin 1 alpha |
|
ISO |
DNA:polymorphism, haplotype:promoter:-889C>T (human) |
RGD |
PMID:18484169 |
RGD:4142867 |
NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
|
|
G |
IL1B |
interleukin 1 beta |
|
ISO |
DNA:polymorphism, haplotype: :-511C>T (human) |
RGD |
PMID:18484169 |
RGD:4142867 |
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
|
|
G |
ITIH4 |
inter-alpha-trypsin inhibitor heavy chain 4 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion, serum |
RGD |
PMID:24360996 |
RGD:40903005 |
|
|
G |
MBL1 |
mannose binding lectin 1 |
treatment |
ISO |
|
RGD |
PMID:17335555 |
RGD:8693746 |
NCBI chr 4:29,419,886...29,424,377
|
|
G |
PTX3 |
pentraxin 3 |
susceptibility no_association |
ISO |
DNA:SNP:intron:rs1840680 (human) protein:increased expression:plasma DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527 protein:increased expression:bronchoalveolar lavage fluid, plasma (human) |
RGD |
PMID:29020397 PMID:29964232 |
RGD:38501098 RGD:38508894 |
NCBI chr23:50,952,835...50,958,607
Ensembl chr23:50,952,885...50,958,167
|
|
G |
VEGFA |
vascular endothelial growth factor A |
treatment |
ISO |
|
RGD |
PMID:23303813 |
RGD:8655596 |
NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
|
|
|
G |
AGER |
advanced glycosylation end-product specific receptor |
|
ISO |
protein:increased expression:brain |
RGD |
PMID:25014011 |
RGD:8695986 |
NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
|
|
G |
ARG1 |
arginase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21232540 |
|
NCBI chr12:242,717...255,736
Ensembl chr12:242,714...255,305
|
|
G |
BTK |
Bruton tyrosine kinase |
susceptibility |
ISO |
|
RGD |
PMID:28783468 |
RGD:124715477 |
NCBI chr X:75,270,952...75,302,663
Ensembl chr X:75,270,979...75,302,562
|
|
G |
C3 |
complement C3 |
|
ISO |
|
RGD |
PMID:15378355 |
RGD:7401274 |
NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
|
|
G |
CCR2 |
C-C motif chemokine receptor 2 |
|
ISO |
|
RGD |
PMID:10899907 |
RGD:8661227 |
NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
|
|
G |
CCR5 |
C-C motif chemokine receptor 5 |
disease_progression |
ISO |
associated with HIV Infections;protein:increased expression:blood, T cell |
RGD |
PMID:10553079 PMID:17457607 |
RGD:8551832 RGD:8551841 |
NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952
|
|
G |
CRP |
C-reactive protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17218153 |
|
NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
|
|
G |
DUSP1 |
dual specificity phosphatase 1 |
treatment |
ISO |
|
RGD |
PMID:21471446 |
RGD:7771536 |
NCBI chr 4:39,588,833...39,591,065
Ensembl chr 4:39,588,339...39,590,514
|
|
G |
DUSP6 |
dual specificity phosphatase 6 |
treatment |
ISO |
|
RGD |
PMID:21471446 |
RGD:7771536 |
NCBI chr15:30,322,472...30,327,221
Ensembl chr15:30,323,697...30,326,508
|
|
G |
IFNG |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:2145107 PMID:16540374 PMID:17218153 |
RGD:7829781 |
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
|
|
G |
IL10 |
interleukin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16540374 PMID:20404924 |
|
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
|
|
G |
IL18 |
interleukin 18 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10768930 PMID:16879623 |
RGD:8655909 |
NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
|
|
G |
IL2 |
interleukin 2 |
|
ISO |
|
RGD |
PMID:6224858 |
RGD:8693326 |
NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
|
|
G |
IL21 |
interleukin 21 |
exacerbates |
ISO |
protein:increased expression:popliteal lymph node (mouse) |
RGD |
PMID:22429963 |
RGD:127285547 |
NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266
|
|
G |
IL27 |
interleukin 27 |
exacerbates |
ISO |
|
RGD |
PMID:25466588 |
RGD:126790552 |
NCBI chr 6:18,243,988...18,248,369
Ensembl chr 6:18,244,040...18,247,635
|
|
G |
IL4 |
interleukin 4 |
treatment |
ISO |
protein:increased expression:serum |
RGD |
PMID:2145107 PMID:2521244 |
RGD:7829781 RGD:7829820 |
NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
|
|
G |
IL6 |
interleukin 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16540374 |
|
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
|
|
G |
ITGB2 |
integrin subunit beta 2 |
ameliorates |
ISO |
|
RGD |
PMID:14502280 |
RGD:127285813 |
NCBI chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018
|
|
G |
MCL1 |
MCL1 apoptosis regulator, BCL2 family member |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26670606 |
|
NCBI chr17:59,759,605...59,763,111
Ensembl chr17:59,759,605...59,763,111
|
|
G |
SLC6A4 |
solute carrier family 6 member 4 |
|
ISO |
lupoid leishmaniasis;protein:increased expression:skin of body (human) |
RGD |
PMID:23989888 |
RGD:36947873 |
NCBI chr 9:44,224,026...44,259,655
Ensembl chr 9:44,224,229...44,259,736
|
|
G |
TNF |
tumor necrosis factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16540374 |
|
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
|
|
G |
TNFRSF18 |
TNF receptor superfamily member 18 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20139272 |
|
NCBI chr 5:56,394,559...56,397,502
Ensembl chr 5:56,394,659...56,397,741
|
|
G |
TNFSF4 |
TNF superfamily member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10637281 |
|
NCBI chr 7:25,883,297...25,909,608
Ensembl chr 7:25,883,251...25,906,892
|
|
G |
TREM1 |
triggering receptor expressed on myeloid cells 1 |
severity |
ISO |
|
RGD |
PMID:24453980 |
RGD:126925972 |
NCBI chr12:9,990,678...10,000,195
Ensembl chr12:9,990,679...10,000,236
|
|
G |
VDR |
vitamin D receptor |
|
ISO |
|
RGD |
PMID:17551101 |
RGD:8158083 |
NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
|
|
|
G |
CCL20 |
C-C motif chemokine ligand 20 |
|
ISO |
protein:increased expression:synovial fluid |
RGD |
PMID:23371320 |
RGD:7488895 |
NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709
|
|
G |
CXCR2 |
C-X-C motif chemokine receptor 2 |
severity |
ISO |
|
RGD |
PMID:12847259 |
RGD:7257681 |
NCBI chr37:24,831,351...24,846,387
Ensembl chr37:24,843,171...24,844,247
|
|
G |
NOD2 |
nucleotide binding oligomerization domain containing 2 |
|
ISO |
|
RGD |
PMID:21387014 |
RGD:5508754 |
NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232
|
|
G |
PLAUR |
plasminogen activator, urokinase receptor |
|
ISO |
mRNA:increased expression:skin |
RGD |
PMID:19461880 |
RGD:6483813 |
NCBI chr 1:111,476,804...111,490,876
Ensembl chr 1:111,476,893...111,490,880
|
|
|
G |
CCL2 |
C-C motif chemokine ligand 2 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:16358960 |
RGD:11528571 |
NCBI chr 9:39,008,187...39,009,932
|
|
G |
CD40 |
CD40 molecule |
|
ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:16463218 |
RGD:11352252 |
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
|
|
G |
CD40LG |
CD40 ligand |
|
ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:16463218 |
RGD:11352252 |
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
|
|
G |
CXCL8 |
C-X-C motif chemokine ligand 8 |
treatment |
ISO |
|
RGD |
PMID:24239846 |
RGD:39939054 |
NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
|
|
G |
IL1B |
interleukin 1 beta |
|
ISO |
|
RGD |
PMID:23134838 |
RGD:7193053 |
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
|
|
|
G |
ABCB1 |
ATP binding cassette subfamily B member 1 |
susceptibility treatment |
ISO |
DNA:hypermethylation:promoter DNA:SNPs,haplotype: :rs2032582, rs1128503 (human) DNA:SNP: :c3435C>T(human) DNA:haplotype: :1236C>T, 2677G>T,3435C>T (human) |
RGD |
PMID:17015054 PMID:19331170 PMID:28422980 PMID:28934955 |
RGD:39456120 RGD:39456123 RGD:39457679 RGD:39457680 |
NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727
|
|
G |
ACE |
angiotensin I converting enzyme |
severity |
ISO |
|
RGD |
PMID:31234939 |
RGD:39939120 |
NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
|
|
G |
ACKR1 |
atypical chemokine receptor 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Plasmodium vivax, resistance to |
OMIM ClinVar |
PMID:7663520 PMID:8547665 PMID:8651934 PMID:10570183 PMID:10791881 PMID:17304246 PMID:18179887 PMID:18621010 PMID:19180233 PMID:19620399 PMID:20932074 More...
|
|
NCBI chr38:22,762,584...22,765,330
Ensembl chr38:22,758,013...22,763,958
|
|
G |
AICDA |
activation induced cytidine deaminase |
|
ISO |
protein:increased expression: B cell |
RGD |
PMID:27980783 |
RGD:30310233 |
NCBI chr27:37,064,107...37,073,791
Ensembl chr27:37,064,080...37,073,789
|
|
G |
ANK1 |
ankyrin 1 |
|
ISO |
OMIM:609148 | OMIM:611162 |
MouseDO |
|
|
NCBI chr16:23,858,299...23,966,181
Ensembl chr16:23,766,193...23,964,226
|
|
G |
APOE |
apolipoprotein E |
|
ISO |
DNA:missense mutations:cds:p.C112R, p.C158R (human) |
RGD |
PMID:24116184 |
RGD:11039486 |
NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
|
|
G |
AQP4 |
aquaporin 4 |
|
ISO |
OMIM:609148 | OMIM:611162 |
MouseDO |
|
|
NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
|
|
G |
CBS |
cystathionine beta-synthase |
susceptibility |
ISO |
DNA:insertion:cds: (844ins68) (human) |
RGD |
PMID:27198213 |
RGD:40903062 |
NCBI chr31:37,230,900...37,247,170
|
|
G |
CD163 |
CD163 molecule |
exacerbates severity |
ISO |
protein:increased expression:blood plasma (human) protein:altered expression:blood plasma (human) |
RGD |
PMID:18632918 PMID:22290142 |
RGD:127285797 RGD:149735529 |
NCBI chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106
|
|
G |
CD1D |
CD1d molecule |
ameliorates exacerbates |
ISO |
|
RGD |
PMID:12938235 PMID:24703850 |
RGD:127345117 RGD:127345121 |
NCBI chr38:23,489,169...23,491,712
|
|
G |
CD36 |
CD36 molecule |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to | ClinVar Annotator: match by term: Malaria, susceptibility to |
OMIM ClinVar |
PMID:10890433 PMID:18305138 PMID:19403559 PMID:25741868 |
|
NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639
|
|
G |
CD40 |
CD40 molecule |
severity |
ISO |
|
RGD |
PMID:11485931 |
RGD:11352239 |
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
|
|
G |
CD40LG |
CD40 ligand |
severity |
ISO |
|
RGD |
PMID:11485931 |
RGD:11352239 |
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
|
|
G |
CISH |
cytokine inducible SH2 containing protein |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, susceptibility to |
OMIM ClinVar |
PMID:20484391 |
|
NCBI chr20:38,762,239...38,767,701
Ensembl chr20:38,762,378...38,766,620
|
|
G |
CRP |
C-reactive protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8730300 |
|
NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
|
|
G |
CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
treatment disease_progression |
ISO |
|
RGD |
PMID:28892065 |
RGD:38455986 |
NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
|
|
G |
EPHB2 |
EPH receptor B2 |
|
ISO |
mRNA:increased expression:liver |
RGD |
PMID:25784101 |
RGD:127285023 |
NCBI chr 2:76,427,112...76,551,494
Ensembl chr 2:76,428,203...76,612,786
|
|
G |
EPHB3 |
EPH receptor B3 |
|
ISO |
|
RGD |
PMID:25784101 |
RGD:127285023 |
NCBI chr34:17,422,746...17,433,769
Ensembl chr34:17,422,842...17,462,954
|
|
G |
EPHB6 |
EPH receptor B6 |
|
ISO |
|
RGD |
PMID:25784101 |
RGD:127285023 |
NCBI chr16:6,706,302...6,718,566
Ensembl chr16:6,706,313...6,718,566
|
|
G |
FCGR2B |
Fc fragment of IgG receptor IIb |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, resistance to |
OMIM ClinVar |
PMID:12115230 PMID:15459183 PMID:16115811 PMID:16170323 PMID:17435165 PMID:20385827 More...
|
|
NCBI chr38:20,980,777...20,994,403
|
|
G |
FOXP3 |
forkhead box P3 |
disease_progression |
ISO |
|
RGD |
PMID:16169501 PMID:19338000 |
RGD:38455985 RGD:38455992 |
NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758
|
|
G |
G6PD |
glucose-6-phosphate dehydrogenase |
susceptibility severity |
ISO |
ClinVar Annotator: match by term: Malaria, susceptibility to | ClinVar Annotator: match by term: Plasmodium vivax, resistance to DNA:point mutation:cds:c.968T>C (human) |
OMIM ClinVar RGD |
PMID:5448 PMID:16832 PMID:1303173 PMID:1459579 PMID:1551674 PMID:1562739 PMID:1631957 PMID:1805484 PMID:1924316 PMID:1945893 PMID:1953767 PMID:1972698 PMID:1978554 PMID:1978555 PMID:2253938 PMID:2263506 PMID:2321910 PMID:2393028 PMID:2503817 PMID:2572288 PMID:2633878 PMID:2836867 PMID:2849540 PMID:2912069 PMID:3198117 PMID:3338798 PMID:3393536 PMID:3446582 PMID:4283789 PMID:4359638 PMID:4379606 PMID:4388132 PMID:4392654 PMID:4435794 PMID:4721339 PMID:4837298 PMID:4974311 PMID:5081671 PMID:5305539 PMID:5369703 PMID:5485383 PMID:5641629 PMID:5673160 PMID:5770172 PMID:5844610 PMID:6015571 PMID:6698555 PMID:6714986 PMID:7203486 PMID:7327562 PMID:7390473 PMID:7440223 PMID:7577654 PMID:7590755 PMID:7789945 PMID:7803800 PMID:7806085 PMID:7825590 PMID:7947239 PMID:7947250 PMID:7949118 PMID:7959686 PMID:8118045 PMID:8193373 PMID:8244337 PMID:8370579 PMID:8447319 PMID:8471773 PMID:8490627 PMID:8537082 PMID:8611726 PMID:8807321 PMID:8860013 PMID:8956035 PMID:9017974 PMID:9192788 PMID:9233561 PMID:9250351 PMID:9342374 PMID:9589612 PMID:9858856 PMID:10221015 PMID:10502785 PMID:10643148 PMID:10734064 PMID:10782016 PMID:11024211 PMID:11146567 PMID:11243133 PMID:11400791 PMID:11445808 PMID:11499668 PMID:11601226 PMID:11793482 PMID:12028056 PMID:12064920 PMID:12105841 PMID:12367584 PMID:12497642 PMID:12737938 PMID:12768444 PMID:14014720 PMID:14278484 PMID:14505231 PMID:15223006 PMID:15315792 PMID:15349799 PMID:15502081 PMID:15625830 PMID:15727905 PMID:15766741 PMID:15906717 PMID:16088936 PMID:16119988 PMID:16136268 PMID:16143877 PMID:16155737 PMID:16329560 PMID:16356170 PMID:16513531 PMID:16528451 PMID:16607506 PMID:16777444 PMID:16927025 PMID:17587269 PMID:17726510 PMID:17959407 PMID:18046504 PMID:18226470 PMID:18270558 PMID:18329300 PMID:18452027 PMID:18568599 PMID:19589177 PMID:19594365 PMID:20007901 PMID:20200584 PMID:20203002 PMID:20236109 PMID:20602793 PMID:21446359 PMID:21479984 PMID:21507207 PMID:21637675 PMID:21677401 PMID:21874587 PMID:21931771 PMID:21989994 PMID:22018328 PMID:22164279 PMID:22165289 PMID:22171972 PMID:22293322 PMID:22307442 PMID:22452742 PMID:22552160 PMID:22770933 PMID:22906047 PMID:22906837 PMID:22963789 PMID:23006493 PMID:23144702 PMID:23479361 PMID:23926329 PMID:23965028 PMID:24033266 PMID:24134566 PMID:24460025 PMID:24551785 PMID:24586352 PMID:24615128 PMID:25071003 PMID:25201310 PMID:25326637 PMID:25440321 PMID:25536053 PMID:25541721 PMID:25548459 PMID:25741868 PMID:25775246 PMID:26060661 PMID:26226515 PMID:26633385 PMID:26823837 PMID:26990548 PMID:27053284 PMID:27213370 PMID:27287612 PMID:27519946 PMID:27535533 PMID:27853304 PMID:27880809 PMID:27884173 PMID:27980749 PMID:28195434 PMID:28492532 PMID:28852037 PMID:29072585 PMID:29141760 PMID:29300386 PMID:29339739 PMID:30045279 PMID:30077011 PMID:30096395 PMID:30161219 PMID:30314477 PMID:30315739 PMID:30674319 PMID:31489982 PMID:31525211 PMID:31862010 PMID:31863082 PMID:32180910 PMID:32425388 PMID:32860008 PMID:33051526 PMID:33072997 PMID:33413378 PMID:33636823 PMID:34620237 PMID:34659341 PMID:34762759 PMID:34895177 PMID:34934109 PMID:34966093 PMID:35313968 PMID:35840819 More...
|
RGD:10449115 |
NCBI chr X:122,217,317...122,231,862
Ensembl chr X:122,205,683...122,231,678
|
|
G |
GYPA |
glycophorin A (MNS blood group) |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
|
|
NCBI chr15:43,018,705...43,049,726
Ensembl chr15:43,018,708...43,049,665
|
|
G |
GYPC |
glycophorin C (Gerbich blood group) |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, resistance to |
OMIM ClinVar |
PMID:1991173 PMID:5011657 PMID:8157284 PMID:11719395 PMID:12469115 PMID:21061946 More...
|
|
NCBI chr19:23,946,413...23,988,970
Ensembl chr19:23,946,494...23,988,415
|
|
G |
HMOX1 |
heme oxygenase 1 |
|
ISO |
OMIM:609148 | OMIM:611162 |
MouseDO |
|
|
NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
|
|
G |
ICAM1 |
intercellular adhesion molecule 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to | ClinVar Annotator: match by term: Malaria, susceptibility to |
OMIM ClinVar |
PMID:9259284 PMID:9861406 PMID:10417733 PMID:10699175 PMID:23609612 PMID:25741868 More...
|
|
NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
|
|
G |
IFNG |
interferon gamma |
|
ISO |
OMIM:609148 | OMIM:611162 |
MouseDO |
|
|
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
|
|
G |
IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Malaria, susceptibility to |
ClinVar |
PMID:1945893 PMID:3198117 PMID:7803800 PMID:8244337 PMID:8471773 PMID:9589612 PMID:10502785 PMID:11601226 PMID:12064920 PMID:15727905 PMID:16329560 PMID:16607506 PMID:25741868 PMID:28492532 PMID:29300386 PMID:29339739 PMID:30045279 PMID:30315739 PMID:31489982 PMID:31863082 PMID:33051526 PMID:33072997 PMID:34659341 PMID:34762759 PMID:34895177 PMID:35313968 PMID:35840819 More...
|
|
NCBI chr X:122,232,052...122,253,499
Ensembl chr X:122,235,878...122,250,562
|
|
G |
IL1RL1 |
interleukin 1 receptor like 1 |
|
ISO |
|
RGD |
PMID:28359899 |
RGD:39938859 |
NCBI chr10:40,658,191...40,732,097
Ensembl chr10:40,659,041...40,677,357
|
|
G |
IL21 |
interleukin 21 |
exacerbates |
ISO |
|
RGD |
PMID:25763578 |
RGD:127285358 |
NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266
|
|
G |
IL27 |
interleukin 27 |
ameliorates |
ISO |
|
RGD |
PMID:24522137 PMID:26968425 |
RGD:11530371 RGD:126790512 |
NCBI chr 6:18,243,988...18,248,369
Ensembl chr 6:18,244,040...18,247,635
|
|
G |
IL33 |
interleukin 33 |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:28359899 |
RGD:39938859 |
NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
|
|
G |
LOC490269 |
complement receptor type 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, severe, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to |
OMIM ClinVar |
PMID:10528197 PMID:14694201 PMID:20855594 PMID:25741868 |
|
NCBI chr 7:6,456,238...6,480,672
|
|
G |
LOC609402 |
hemoglobin subunit beta-like |
susceptibility resistance |
ISO |
ClinVar Annotator: match by term: Malaria, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to Hemoglobin C; DNA:polymorphism:CDS:69G>A, amino acid E6K |
OMIM ClinVar RGD |
PMID:14973 PMID:49057 PMID:81926 PMID:88735 PMID:700140 PMID:893136 PMID:909565 PMID:1112610 PMID:1301203 PMID:1353069 PMID:1376298 PMID:1390250 PMID:1427786 PMID:1428944 PMID:1463768 PMID:1483699 PMID:1610915 PMID:1634236 PMID:1634368 PMID:1680789 PMID:1709134 PMID:1732017 PMID:1734721 PMID:1769663 PMID:1802884 PMID:1917531 PMID:1960615 PMID:1967205 PMID:1986365 PMID:1986379 PMID:2004023 PMID:2030155 PMID:2123063 PMID:2197725 PMID:2200760 PMID:2200762 PMID:2239966 PMID:2296310 PMID:2298457 PMID:2393712 PMID:2412200 PMID:2446680 PMID:2458145 PMID:2467892 PMID:2577233 PMID:2579336 PMID:2582106 PMID:2606476 PMID:2606727 PMID:2634667 PMID:2713503 PMID:2867271 PMID:2888754 PMID:2891298 PMID:2893541 PMID:2898142 PMID:2898460 PMID:2898955 PMID:2903765 PMID:2987224 PMID:2987809 PMID:3031297 PMID:3048433 PMID:3170235 PMID:3267215 PMID:3354556 PMID:3422218 PMID:3462712 PMID:3623977 PMID:3690667 PMID:3691763 PMID:3752087 PMID:3821796 PMID:3840039 PMID:3859465 PMID:3957690 PMID:4232783 PMID:4351905 PMID:4683875 PMID:5481775 PMID:5609824 PMID:5619995 PMID:5658717 PMID:5863839 PMID:5915974 PMID:6019668 PMID:6162860 PMID:6166632 PMID:6188062 PMID:6189507 PMID:6190800 PMID:6198908 PMID:6246994 PMID:6264391 PMID:6264477 PMID:6268660 PMID:6270663 PMID:6272289 PMID:6275383 PMID:6280057 PMID:6285354 PMID:6304979 PMID:6310991 PMID:6316272 PMID:6434492 PMID:6457059 PMID:6572978 PMID:6583683 PMID:6583702 PMID:6584911 PMID:6585831 PMID:6695908 PMID:6714226 PMID:6745619 PMID:6821648 PMID:6826539 PMID:6859036 PMID:6896219 PMID:6985481 PMID:7076659 PMID:7137165 PMID:7151176 PMID:7177196 PMID:7229029 PMID:7312624 PMID:7384810 PMID:7395858 PMID:7522523 PMID:7558878 PMID:7668219 PMID:7908281 PMID:7993409 PMID:8095930 PMID:8199027 PMID:8199597 PMID:8201467 PMID:8262525 PMID:8330981 PMID:8373896 PMID:8435318 PMID:8454469 PMID:8462981 PMID:8518184 PMID:8602996 PMID:8619407 PMID:8718703 PMID:8839873 PMID:8917506 PMID:9028827 PMID:9048934 PMID:9101288 PMID:9113933 PMID:9140720 PMID:9163586 PMID:9225979 PMID:9342003 PMID:9401495 PMID:9450794 PMID:9490703 PMID:9536098 PMID:9556665 PMID:9586437 PMID:9653159 PMID:9834244 PMID:9845707 PMID:9859938 PMID:9949622 PMID:10203101 PMID:10335989 PMID:10583251 PMID:10602954 PMID:10612821 PMID:10815781 PMID:11001883 PMID:11179419 PMID:11186258 PMID:11425418 PMID:11545326 PMID:11559932 PMID:11713529 PMID:11741197 PMID:11830454 PMID:11857746 PMID:11880644 PMID:11939508 PMID:11939510 PMID:12000828 PMID:12124399 PMID:12144057 PMID:12149194 PMID:12383672 PMID:12702481 PMID:12764548 PMID:12818227 PMID:12850492 PMID:13066514 PMID:13108995 PMID:13115700 PMID:13369537 PMID:13464827 PMID:13618691 PMID:13685866 PMID:13716853 PMID:13852872 PMID:14084634 PMID:14405428 PMID:14492555 PMID:14555304 PMID:14576320 PMID:14613965 PMID:14734204 PMID:14808148 PMID:15000665 PMID:15108284 PMID:15114532 PMID:15181845 PMID:15278762 PMID:15395398 PMID:15470211 PMID:15481886 PMID:15543018 PMID:15654898 PMID:15658184 PMID:15973412 PMID:16001361 PMID:16044458 PMID:16103715 PMID:16114182 PMID:16175509 PMID:16199547 PMID:16291734 PMID:16311287 PMID:16421096 PMID:16470532 PMID:16750922 PMID:16821247 PMID:17145605 PMID:17278112 PMID:17287491 PMID:17331080 PMID:17365006 PMID:17486505 PMID:17576681 PMID:17774955 PMID:17932132 PMID:17994378 PMID:18024613 PMID:18048408 PMID:18192399 PMID:18294253 PMID:18568278 PMID:18603555 PMID:18976160 PMID:19000664 PMID:19061217 PMID:19092326 PMID:19254853 PMID:19429541 PMID:19440680 PMID:19465909 PMID:19486366 PMID:19657842 PMID:19727720 PMID:19758965 PMID:19841268 PMID:19958185 PMID:19960060 PMID:20132300 PMID:20236848 PMID:20301551 PMID:20301599 PMID:20305663 PMID:20353354 PMID:20395516 PMID:20412082 PMID:20437613 PMID:20492708 PMID:20704537 PMID:20737602 PMID:20788973 PMID:20861612 PMID:20954261 PMID:20981092 PMID:21119755 PMID:21131035 PMID:21194254 PMID:21228398 PMID:21250876 PMID:21302591 PMID:21329186 PMID:21389146 PMID:21417574 PMID:21509314 PMID:21529713 PMID:21732929 PMID:21797703 PMID:22010933 PMID:22028795 PMID:22075726 PMID:22110956 PMID:22188014 PMID:22200002 PMID:22244832 PMID:22260787 PMID:22271886 PMID:22335963 PMID:22392582 PMID:22563936 PMID:22625666 PMID:22957039 PMID:22975760 PMID:23065522 PMID:23144702 PMID:23162295 PMID:23234478 PMID:23297836 PMID:23321370 PMID:23348723 PMID:23425204 PMID:23457306 PMID:23590658 PMID:23637309 PMID:23729725 PMID:24033266 PMID:24052702 PMID:24055728 PMID:24099628 PMID:24106605 PMID:24123366 PMID:24200214 PMID:24245819 PMID:24368026 PMID:24369358 PMID:24493127 PMID:24581976 PMID:24616059 PMID:24616209 PMID:24777453 PMID:24857915 PMID:24880717 PMID:25000193 PMID:25016698 PMID:25023084 PMID:25023085 PMID:25087612 PMID:25089872 PMID:25113778 PMID:25135424 PMID:25155404 PMID:25332589 PMID:25370867 PMID:25408857 PMID:25480500 PMID:25488433 PMID:25525159 PMID:25572186 PMID:25617386 PMID:25666204 PMID:25741868 PMID:25849334 PMID:25856402 PMID:25976460 PMID:26029792 PMID:26041415 PMID:26044735 PMID:26084319 PMID:26097845 PMID:26193974 PMID:26275168 PMID:26290351 PMID:26291967 PMID:26366554 PMID:26372199 PMID:26436569 PMID:26467025 PMID:26554253 PMID:26554862 PMID:26661037 PMID:26897028 PMID:26956563 PMID:27117572 PMID:27199182 PMID:27207683 PMID:27251090 PMID:27254408 PMID:27263053 PMID:27427187 PMID:27690257 PMID:27821015 PMID:27823958 PMID:27829304 PMID:27884173 PMID:27979672 PMID:28251416 PMID:28356267 PMID:28361595 PMID:28366028 PMID:28385923 PMID:28391758 PMID:28492532 PMID:28635337 PMID:28667000 PMID:28670940 PMID:28802248 PMID:28865746 PMID:29319890 PMID:29484903 PMID:29695942 PMID:30002798 PMID:30033078 PMID:30249157 PMID:30315176 PMID:30604644 PMID:30843739 PMID:31096791 PMID:31130284 PMID:31134759 PMID:31268351 PMID:31456457 PMID:31553106 PMID:31589614 PMID:31714438 PMID:31718331 PMID:31890591 PMID:32039214 PMID:32126744 PMID:32190157 PMID:32472543 PMID:32527859 PMID:32581362 PMID:32860008 PMID:33091040 PMID:33116287 PMID:33851260 PMID:34092029 PMID:34334128 PMID:34426522 More...
|
RGD:1600894 |
NCBI chr21:28,187,535...28,188,991
|
|
G |
LTBR |
lymphotoxin beta receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15788153 |
|
NCBI chr27:38,598,725...38,605,829
Ensembl chr27:38,599,268...38,605,780
|
|
G |
MAPKAPK3 |
MAPK activated protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Malaria, susceptibility to |
ClinVar |
PMID:20484391 |
|
NCBI chr20:38,731,492...38,759,000
Ensembl chr20:38,732,397...38,758,494
|
|
G |
MIR122 |
microRNA mir-122 |
treatment |
ISO |
|
RGD |
PMID:28123381 |
RGD:35673288 |
NCBI chr 1:17,593,858...17,593,915
Ensembl chr 1:17,593,837...17,593,929
|
|
G |
MIR142 |
microRNA mir-142 |
treatment |
ISO |
|
RGD |
PMID:28123381 |
RGD:35673288 |
NCBI chr 9:32,977,393...32,977,455
Ensembl chr 9:32,977,382...32,977,468
|
|
G |
MIRLET7C |
microRNA let-7c |
treatment |
ISO |
|
RGD |
PMID:28123381 |
RGD:35673288 |
NCBI chr31:13,259,522...13,259,588
Ensembl chr31:13,259,502...13,259,609
|
|
G |
MKI67 |
marker of proliferation Ki-67 |
|
ISO |
associated with Lung Neoplasms |
RGD |
PMID:21931708 |
RGD:6483517 |
NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486
|
|
G |
NCR3 |
natural cytotoxicity triggering receptor 3 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, severe, susceptibility to |
OMIM ClinVar |
PMID:17208487 |
|
NCBI chr12:1,086,698...1,104,268
Ensembl chr12:1,086,841...1,089,481
|
|
G |
NOS2 |
nitric oxide synthase 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, resistance to | ClinVar Annotator: match by term: Malaria, severe, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to |
OMIM ClinVar |
PMID:9457101 PMID:12433515 PMID:31995689 |
|
NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
|
|
G |
PKLR |
pyruvate kinase L/R |
susceptibility |
ISO |
DNA:mutations, haplotype:multiple (human) OMIM:609148 | OMIM:611162 DNA:missense mutation:cds:p.I90N (mouse) |
RGD MouseDO |
PMID:14595440 PMID:20377593 |
RGD:11535999 RGD:11537407 |
NCBI chr 7:42,263,899...42,272,770
Ensembl chr 7:42,263,761...42,272,755
|
|
G |
PRF1 |
perforin 1 |
|
ISO |
|
RGD |
PMID:21525386 |
RGD:6482803 |
NCBI chr 4:21,497,865...21,502,429
Ensembl chr 4:21,498,249...21,500,864
|
|
G |
PROCR |
protein C receptor |
disease_progression |
ISO |
|
RGD |
PMID:27671831 |
RGD:126848795 |
NCBI chr24:24,184,063...24,188,452
Ensembl chr24:24,184,370...24,187,910
|
|
G |
SLC19A1 |
solute carrier family 19 member 1 |
|
ISO |
DNA:SNP::g.80G>A (human) |
RGD |
PMID:27198213 |
RGD:40903062 |
NCBI chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094
|
|
G |
SLC4A1 |
solute carrier family 4 member 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, cerebral, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to |
OMIM ClinVar |
PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:6338046 PMID:7689982 PMID:7919393 PMID:7949112 PMID:8434259 PMID:8704215 PMID:9207478 PMID:9312167 PMID:9854053 PMID:10403343 PMID:10926824 PMID:10942416 PMID:12087557 PMID:12750988 PMID:12938018 PMID:14618420 PMID:16107207 PMID:16420521 PMID:17215882 PMID:18266205 PMID:19229254 PMID:19289107 PMID:19625994 PMID:20068363 PMID:20151848 PMID:20421175 PMID:20799361 PMID:22126643 PMID:22518001 PMID:22609520 PMID:23255290 PMID:24652967 PMID:25741868 PMID:28045035 PMID:28188436 PMID:28233610 PMID:28492532 PMID:28542241 PMID:29627839 PMID:30192042 PMID:30230413 PMID:31147440 PMID:31672324 PMID:31959358 PMID:32071839 PMID:33532864 PMID:35738466 More...
|
|
NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915
|
|
G |
SPP1 |
secreted phosphoprotein 1 |
|
ISO |
|
RGD |
PMID:16552072 |
RGD:1581333 |
NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069
|
|
G |
TBX21 |
T-box transcription factor 21 |
|
ISO |
|
RGD |
PMID:19338000 |
RGD:38455985 |
NCBI chr 9:24,077,752...24,086,560
Ensembl chr 9:24,077,761...24,086,261
|
|
G |
TIRAP |
TIR domain containing adaptor protein |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, resistance to |
OMIM ClinVar |
PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868 |
|
NCBI chr 5:8,222,217...8,237,595
Ensembl chr 5:8,221,794...8,226,074
|
|
G |
TNF |
tumor necrosis factor |
susceptibility |
ISO |
ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to |
OMIM ClinVar |
PMID:8056188 PMID:9818939 PMID:10369255 PMID:10450718 PMID:11261930 PMID:11506397 PMID:11826025 PMID:11896460 PMID:12485196 PMID:12746914 PMID:12759288 PMID:14681301 PMID:14718719 PMID:16418737 PMID:16720636 PMID:16865291 PMID:16909270 PMID:18050183 PMID:18713756 PMID:19365401 PMID:22760475 PMID:22992668 More...
|
|
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
|
|
G |
TREM1 |
triggering receptor expressed on myeloid cells 1 |
severity |
ISO |
|
RGD |
PMID:27671831 |
RGD:126848795 |
NCBI chr12:9,990,678...10,000,195
Ensembl chr12:9,990,679...10,000,236
|
|
G |
TSLP |
thymic stromal lymphopoietin |
|
ISO |
mRNA:altered expression:multiple (mouse) |
RGD |
PMID:28955823 |
RGD:38596344 |
NCBI chr 3:1,502,469...1,507,696
Ensembl chr 3:1,503,188...1,507,696
|
|
|
G |
LOC478984 |
low affinity immunoglobulin gamma Fc region receptor III |
susceptibility severity |
ISO |
DNA:polymorphism: :p.F176V (human) |
RGD |
PMID:20231419 PMID:23045477 |
RGD:11040771 RGD:11344971 |
NCBI chr38:21,054,870...21,060,948
|
|
G |
SLC4A1 |
solute carrier family 4 member 1 |
severity |
ISO |
DNA:snp:promoter:g.-5699T>C (human) |
RGD |
PMID:16960783 |
RGD:10450507 |
NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915
|
|
G |
TLR9 |
toll like receptor 9 |
susceptibility |
ISO |
DNA:SNP:promoter:g.-1237T>C (rs5743836) (human) |
RGD |
PMID:23045477 |
RGD:11344971 |
NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114 Ensembl chr20:37,542,340...37,547,114
|
|
|
G |
TLR2 |
toll like receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29253318 |
|
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
|
|
|
G |
IFNG |
interferon gamma |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:7854095 |
|
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
|
|
G |
LTA |
lymphotoxin alpha |
|
ISO |
DNA:polymorphism:intron |
RGD |
PMID:7595196 |
RGD:8548799 |
NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
|
|
G |
TNF |
tumor necrosis factor |
|
ISO |
DNA:SNP:promoter:-308G>A (human) |
RGD |
PMID:7595196 |
RGD:8548799 |
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
|
|
|
G |
CYP1A1 |
cytochrome P450 family 1 subfamily A member 1 |
|
ISO |
protein:increased expression:liver (rat) |
RGD |
PMID:12621079 |
RGD:2306675 |
NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
|
|
G |
IL1RL1 |
interleukin 1 receptor like 1 |
severity |
ISO |
|
RGD |
PMID:27697499 |
RGD:40400689 |
NCBI chr10:40,658,191...40,732,097
Ensembl chr10:40,659,041...40,677,357
|
|
G |
IL33 |
interleukin 33 |
|
ISO |
associated with Nippostrongylus brasiliensis infection; mRNA:increased expression:lung |
RGD |
PMID:22331917 |
RGD:40400742 |
NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
|
|
G |
IL4 |
interleukin 4 |
|
ISO |
mRNA:increased expression:spleen |
RGD |
PMID:17570971 |
RGD:2317296 |
NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
|
|
G |
MUC13 |
mucin 13, cell surface associated |
|
ISO |
protein:increased expression:cecum, glycocalyx |
RGD |
PMID:21155842 |
RGD:7364766 |
NCBI chr33:27,926,395...27,951,690
Ensembl chr33:27,926,442...27,958,778
|
|
G |
MUC17 |
mucin 17, cell surface associated |
|
ISO |
mRNA:increased expression:intestine |
RGD |
PMID:16689826 |
RGD:2303607 |
|
|
G |
MUC2 |
mucin 2, oligomeric mucus/gel-forming |
|
ISO |
mRNA:increased expression:intestine |
RGD |
PMID:16689826 PMID:20138044 |
RGD:2303607 RGD:7349349 |
NCBI chr18:45,416,347...45,438,226
|
|
G |
MUC4 |
mucin 4, cell surface associated |
|
ISO |
mRNA:increased expression:intestine protein:increased expression:cecum, glycocalyx |
RGD |
PMID:16689826 PMID:21155842 |
RGD:2303607 RGD:7364766 |
NCBI chr33:29,061,372...29,084,938
Ensembl chr33:29,063,096...29,111,802
|
|
G |
MUC5AC |
mucin 5AC, oligomeric mucus/gel-forming |
resistance |
ISO |
mRNA:increased expression:cecum |
RGD |
PMID:20138044 PMID:22269441 |
RGD:7349349 RGD:7364747 |
NCBI chr18:45,471,232...45,498,961
|
|
G |
PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
susceptibility |
ISO |
|
RGD |
PMID:11850627 |
RGD:737789 |
NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970
|
|
G |
TNFRSF1A |
TNF receptor superfamily member 1A |
|
ISO |
mRNA:increased expression:liver (rat) |
RGD |
PMID:20695884 |
RGD:5130965 |
NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282
|
|
|
G |
IL1R1 |
interleukin 1 receptor type 1 |
|
ISO |
|
RGD |
PMID:19168746 |
RGD:8662882 |
NCBI chr10:40,825,986...40,897,898
Ensembl chr10:40,827,377...40,897,596
|
|
G |
TLR4 |
toll like receptor 4 |
|
ISO |
|
RGD |
PMID:11884755 |
RGD:7794682 |
NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
|
|
|
G |
ANXA1 |
annexin A1 |
|
ISO |
|
RGD |
PMID:22740770 |
RGD:7421536 |
NCBI chr 1:84,744,159...84,763,011
Ensembl chr 1:84,744,163...84,763,011
|
|
G |
IL10 |
interleukin 10 |
|
ISO |
|
RGD |
PMID:19026704 |
RGD:7365028 |
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
|
|
G |
IL17A |
interleukin 17A |
treatment |
ISO |
protein:increased expression:aqueous humor (human) |
RGD |
PMID:22927448 |
RGD:8698652 |
NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
|
|
G |
IL27 |
interleukin 27 |
disease_progression |
ISO |
mRNA:increased expression:eye, cervical lymph node (mouse) |
RGD |
PMID:29779048 |
RGD:126790500 |
NCBI chr 6:18,243,988...18,248,369
Ensembl chr 6:18,244,040...18,247,635
|
|
G |
NOD2 |
nucleotide binding oligomerization domain containing 2 |
susceptibility |
ISO |
DNA:snp:3' utr:g.*397A>C (rs3135499)(human) |
RGD |
PMID:23100559 |
RGD:8547527 |
NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232
|
|
|
G |
IL13 |
interleukin 13 |
severity |
ISO |
protein:increased expression:serum |
RGD |
PMID:22805723 |
RGD:8549600 |
NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
|
|
|
G |
ACTR3 |
actin related protein 3 |
|
ISO |
|
RGD |
PMID:25809205 |
RGD:11570559 |
NCBI chr19:35,097,968...35,133,330
Ensembl chr19:35,098,639...35,169,724
|
|
G |
CYP2A7 |
cytochrome P450, family 2, subfamily A, polypeptide 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8896890 |
|
NCBI chr 1:112,900,508...112,906,745
Ensembl chr 1:112,900,403...112,907,076
|
|
G |
MIR192 |
microRNA mir-192 |
|
ISO |
RNA:increased expression:urine |
RGD |
PMID:26456596 |
RGD:41404678 |
NCBI chr18:52,281,129...52,281,193
Ensembl chr18:52,281,129...52,281,193
|
|
|
G |
CEBPB |
CCAAT enhancer binding protein beta |
susceptibility |
ISO |
|
RGD |
PMID:26317211 |
RGD:11079756 |
NCBI chr24:36,661,294...36,663,162
Ensembl chr24:36,661,616...36,662,656
|
|
G |
IL23A |
interleukin 23 subunit alpha |
severity |
ISO |
|
RGD |
PMID:19204111 |
RGD:39457957 |
NCBI chr10:635,384...640,715
Ensembl chr10:638,719...640,359
|
|
G |
LCN2 |
lipocalin 2 |
no_association |
ISO |
mRNA:increased expression:tongues: |
RGD |
PMID:24343647 |
RGD:126725083 |
NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038
|
|
G |
LTF |
lactotransferrin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16640825 |
|
NCBI chr20:42,231,994...42,263,202
Ensembl chr20:42,231,994...42,263,202
|
|
G |
ZC3H12A |
zinc finger CCCH-type containing 12A |
|
ISO |
|
RGD |
PMID:26320658 |
RGD:11534569 |
NCBI chr15:4,972,369...4,984,218
Ensembl chr15:4,972,956...4,980,371
|
|
|
G |
IL2RB |
interleukin 2 receptor subunit beta |
ameliorates |
ISO |
|
RGD |
PMID:21301182 |
RGD:42724469 |
NCBI chr10:27,370,797...27,388,775
Ensembl chr10:27,370,797...27,388,775
|
|
G |
IL33 |
interleukin 33 |
treatment |
ISO |
|
RGD |
PMID:25912172 |
RGD:39939026 |
NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
|
|
|
G |
IL5 |
interleukin 5 |
|
ISO |
|
RGD |
PMID:15534922 |
RGD:11354941 |
NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
|
|
|
G |
CYP2A7 |
cytochrome P450, family 2, subfamily A, polypeptide 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8896890 |
|
NCBI chr 1:112,900,508...112,906,745
Ensembl chr 1:112,900,403...112,907,076
|
|
G |
GNAS |
GNAS complex locus |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
|
NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657
|
|
G |
KMT2C |
lysine methyltransferase 2C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
|
NCBI chr16:15,962,045...16,117,601
Ensembl chr16:15,963,901...16,158,408
|
|
G |
KRAS |
KRAS proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
|
NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
|
|
G |
PEG3 |
paternally expressed 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
|
NCBI chr 1:101,091,161...101,123,552
Ensembl chr 1:101,098,669...101,121,032
|
|
G |
RNF43 |
ring finger protein 43 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
|
NCBI chr 9:32,996,668...33,061,781
Ensembl chr 9:32,997,937...33,060,313
|
|
G |
ROBO2 |
roundabout guidance receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
|
NCBI chr31:9,415,390...11,047,710
Ensembl chr31:9,419,026...11,022,392
|
|
G |
SMAD4 |
SMAD family member 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
|
NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405
|
|
G |
TP53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22561520 |
|
NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
|
|
|
G |
ABO |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
susceptibility |
ISO |
DNA:SNPs,haplotype:multiple |
RGD |
PMID:18003641 |
RGD:39938831 |
NCBI chr 9:49,746,749...49,758,317
Ensembl chr 9:49,748,693...49,758,479
|
|
G |
ADAMTS13 |
ADAM metallopeptidase with thrombospondin type 1 motif 13 |
|
ISO |
protein:decreased activity:plasma (human) |
RGD |
PMID:20062916 |
RGD:10449041 |
NCBI chr 9:49,839,252...49,867,295
Ensembl chr 9:49,839,252...49,867,295
|
|
G |
BSG |
basigin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:22080952 PMID:26195724 |
|
NCBI chr20:57,942,703...57,951,089
Ensembl chr20:57,943,276...57,951,061
|
|
G |
CAST |
calpastatin |
|
ISO |
protein:alter localization:erythrocyte |
RGD |
PMID:17359359 |
RGD:5509812 |
NCBI chr 3:12,920,514...13,031,974
Ensembl chr 3:12,922,453...13,031,959
|
|
G |
CCL4 |
chemokine (C-C motif) ligand 4 |
|
ISO |
mRNA, protein:increased expression:blood, |
RGD |
PMID:15972509 |
RGD:5683898 |
NCBI chr 9:37,681,342...37,682,691
Ensembl chr 9:37,676,966...37,710,209
|
|
G |
CLEC11A |
C-type lectin domain containing 11A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19884328 |
|
NCBI chr 1:106,078,055...106,080,473
Ensembl chr 1:106,078,291...106,080,517
|
|
G |
FAS |
Fas cell surface death receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21625619 |
|
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
|
|
G |
G6PD |
glucose-6-phosphate dehydrogenase |
severity |
ISO |
DNA:missense mutation:cds:202G>A (p.V68M) (human) |
RGD |
PMID:24943486 |
RGD:10449113 |
NCBI chr X:122,217,317...122,231,862
Ensembl chr X:122,205,683...122,231,678
|
|
G |
GSTP1 |
glutathione S-transferase pi 1 |
severity |
ISO |
|
RGD |
PMID:19635899 |
RGD:10450848 |
NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
|
|
G |
IL13 |
interleukin 13 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:21985368 |
RGD:5684362 |
NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
|
|
G |
LOC490269 |
complement receptor type 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9230440 PMID:11724985 |
|
NCBI chr 7:6,456,238...6,480,672
|
|
G |
LOC609402 |
hemoglobin subunit beta-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20305663 |
|
NCBI chr21:28,187,535...28,188,991
|
|
G |
MBL1 |
mannose binding lectin 1 |
susceptibility |
ISO |
DNA:haplotype:exon: |
RGD |
PMID:18396436 |
RGD:11530064 |
NCBI chr 4:29,419,886...29,424,377
|
|
G |
TNF |
tumor necrosis factor |
severity |
ISO |
protein:increased expression:plasma |
RGD |
PMID:1984482 |
RGD:10450571 |
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
|
|
|
G |
ACKR1 |
atypical chemokine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Resistance to Plasmodium vivax infection |
OMIM ClinVar |
PMID:7663520 PMID:8547665 PMID:8651934 PMID:10570183 PMID:10791881 PMID:17304246 PMID:18179887 PMID:18621010 PMID:19180233 PMID:19620399 PMID:20932074 More...
|
|
NCBI chr38:22,762,584...22,765,330
Ensembl chr38:22,758,013...22,763,958
|
|
|
G |
AZIN1 |
antizyme inhibitor 1 |
|
ISO |
mRNA:increased expression:alveolar macrophage |
RGD |
PMID:19158080 |
RGD:14700806 |
NCBI chr13:4,363,996...4,396,069
Ensembl chr13:4,361,340...4,396,040
|
|
G |
C3 |
complement C3 |
|
ISO |
|
RGD |
PMID:17169032 |
RGD:5129525 |
NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
|
|
G |
CCL2 |
C-C motif chemokine ligand 2 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:20618689 |
RGD:4891428 |
NCBI chr 9:39,008,187...39,009,932
|
|
G |
CD40 |
CD40 molecule |
treatment |
ISO |
|
RGD |
PMID:10968950 |
RGD:8547797 |
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
|
|
G |
CSF2 |
colony stimulating factor 2 |
|
ISO |
protein:increased expression:respiratory system fluid/secretion |
RGD |
PMID:19487471 |
RGD:5131475 |
NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959
|
|
G |
IL23A |
interleukin 23 subunit alpha |
|
ISO |
|
RGD |
PMID:17403873 |
RGD:39458043 |
NCBI chr10:635,384...640,715
Ensembl chr10:638,719...640,359
|
|
G |
IL33 |
interleukin 33 |
treatment |
ISO |
|
RGD |
PMID:21220696 |
RGD:40400892 |
NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
|
|
G |
LOC610540 |
pulmonary surfactant-associated protein A-like |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:11385364 |
RGD:4143431 |
NCBI chr 4:29,430,139...29,434,640
|
|
G |
MUC1 |
mucin 1, cell surface associated |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:9617869 |
RGD:5131424 |
NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690
|
|
G |
NOS2 |
nitric oxide synthase 2 |
|
ISO |
protein:decreased dimerization:alveolar macrophage mRNA:increased expression:alveolar macrophage |
RGD |
PMID:20377877 PMID:20558778 |
RGD:4144112 RGD:4891486 |
NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
|
|
G |
SFTPB |
surfactant protein B |
|
ISO |
protein:decreased expression:lung |
RGD |
PMID:11385364 |
RGD:4143431 |
NCBI chr17:39,419,305...39,428,513
Ensembl chr17:39,386,584...39,426,229
|
|
G |
SFTPC |
surfactant protein C |
|
ISO |
protein:decreased expression:lung |
RGD |
PMID:11385364 |
RGD:4143431 |
NCBI chr25:35,088,295...35,090,995
Ensembl chr25:35,088,279...35,091,457
|
|
G |
SFTPD |
surfactant protein D |
|
ISO |
protein:increased expression:lung |
RGD |
PMID:11385364 |
RGD:4143431 |
NCBI chr 4:29,394,755...29,407,499
Ensembl chr 4:29,394,678...29,407,293
|
|
G |
TLR2 |
toll like receptor 2 |
|
ISO |
|
RGD |
PMID:18400546 |
RGD:4145341 |
NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241
|
|
|
G |
IL10 |
interleukin 10 |
|
ISO |
|
RGD |
PMID:24717969 |
RGD:11041890 |
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
|
|
|
G |
PTX3 |
pentraxin 3 |
|
ISO |
protein:increased expression:bronchoalveolar lavage fluid, plasma (human) |
RGD |
PMID:29964232 |
RGD:38508894 |
NCBI chr23:50,952,835...50,958,607
Ensembl chr23:50,952,885...50,958,167
|
|
|
G |
CAT |
catalase |
treatment |
ISO |
|
RGD |
PMID:17884035 |
RGD:9479747 |
NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
|
|
|
G |
AGER |
advanced glycosylation end-product specific receptor |
|
ISO |
protein:decreased expression:lung (mouse) |
RGD |
PMID:23369670 |
RGD:7243187 |
NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129
|
|
G |
BUD31 |
BUD31 homolog |
|
ISO |
Protein:increased expression:serum (human) |
RGD |
PMID:22686541 |
RGD:10058982 |
NCBI chr 6:10,169,422...10,178,231
|
|
G |
HLA-DRB1 |
MHC class II DLA DRB1 beta chain |
treatment |
ISO |
DNA:polymorphism: :HLA-DRB1*13 |
RGD |
PMID:16709874 |
RGD:36049813 |
NCBI chr12:2,151,409...2,164,564
|
|
G |
IL33 |
interleukin 33 |
|
ISO |
mRNA,protein:increased expression:liver |
RGD |
PMID:29554131 |
RGD:39938854 |
NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
|
|
G |
PRDX1 |
peroxiredoxin 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19041905 |
|
NCBI chr15:14,834,009...14,855,665
Ensembl chr15:14,838,652...14,862,971
|
|
G |
RASSF1 |
Ras association domain family member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23527093 |
|
NCBI chr20:39,014,639...39,023,393
Ensembl chr20:39,014,666...39,022,585
|
|
G |
STING1 |
stimulator of interferon response cGAMP interactor 1 |
|
ISO |
|
RGD |
PMID:32404867 |
RGD:39128195 |
NCBI chr 2:34,783,947...34,792,204
Ensembl chr 2:34,784,232...34,789,072
|
|
G |
TIMP3 |
TIMP metallopeptidase inhibitor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23527093 |
|
NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288
|
|
|
G |
CD1D |
CD1d molecule |
treatment |
ISO |
|
RGD |
PMID:33283278 |
RGD:127345110 |
NCBI chr38:23,489,169...23,491,712
|
|
G |
IL18 |
interleukin 18 |
treatment |
ISO |
|
RGD |
PMID:19467215 |
RGD:14696662 |
NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
|
|
G |
IL33 |
interleukin 33 |
treatment severity |
ISO |
protein:increased expression:serum |
RGD |
PMID:22590860 PMID:25944738 |
RGD:39939027 RGD:40400890 |
NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
|
|
G |
MIR223 |
microRNA mir-223 |
treatment |
ISO |
RNA:increased expression:plasma: |
RGD |
PMID:24330517 |
RGD:21408589 |
NCBI chr X:50,838,131...50,838,233
Ensembl chr X:50,838,131...50,838,233
|
|
G |
PDCD1 |
programmed cell death 1 |
severity |
ISO |
protein:increased expression:CD4 T cell |
RGD |
PMID:27792733 |
RGD:40818413 |
NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
|
|
G |
SERPINH1 |
serpin family H member 1 |
|
ISO |
mRNA,protein:increased expression:liver, serum (mouse) |
RGD |
PMID:31612672 |
RGD:41412161 |
NCBI chr21:23,032,761...23,041,649
Ensembl chr21:23,032,767...23,041,625
|
|
|
G |
ALDH1A2 |
aldehyde dehydrogenase 1 family member A2 |
|
ISO |
mRNA:increased expression:macrophage |
RGD |
PMID:22927819 |
RGD:14367882 |
NCBI chr30:23,074,432...23,170,374
Ensembl chr30:23,074,432...23,340,030
|
|
G |
CD40 |
CD40 molecule |
treatment |
ISO |
|
RGD |
PMID:10623823 |
RGD:11520789 |
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
|
|
G |
CD86 |
CD86 molecule |
|
ISO |
protein:increased expression:peripheral blood, eosinophil (human) |
RGD |
PMID:17308795 |
RGD:11354987 |
NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
|
|
G |
IHH |
Indian hedgehog signaling molecule |
|
ISO |
|
RGD |
PMID:23121638 |
RGD:12910981 |
NCBI chr37:25,616,942...25,622,989
|
|
G |
IL13 |
interleukin 13 |
treatment |
ISO |
|
RGD |
PMID:10903803 |
RGD:8549615 |
NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388
|
|
G |
MAP3K8 |
mitogen-activated protein kinase kinase kinase 8 |
exacerbates |
ISO |
|
RGD |
PMID:27487182 |
RGD:151356963 |
NCBI chr 2:16,717,845...16,740,816
Ensembl chr 2:16,720,596...16,740,515
|
|
G |
NOS2 |
nitric oxide synthase 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9673227 |
|
NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
|
|
G |
SOD1 |
superoxide dismutase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16564582 |
|
NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
|
|
G |
TLR9 |
toll like receptor 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19797157 |
|
NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114 Ensembl chr20:37,542,340...37,547,114
|
|
G |
TREM1 |
triggering receptor expressed on myeloid cells 1 |
|
ISO |
|
RGD |
PMID:21332515 |
RGD:126925988 |
NCBI chr12:9,990,678...10,000,195
Ensembl chr12:9,990,679...10,000,236
|
|
G |
TSLP |
thymic stromal lymphopoietin |
treatment |
ISO |
|
RGD |
PMID:22882457 |
RGD:38596354 |
NCBI chr 3:1,502,469...1,507,696
Ensembl chr 3:1,503,188...1,507,696
|
|
|
G |
NOS2 |
nitric oxide synthase 2 |
|
ISO |
protein:altered activity:brain, peritoneal macrophage |
RGD |
PMID:20169057 |
RGD:4891375 |
NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588
|
|
G |
TSLP |
thymic stromal lymphopoietin |
susceptibility |
ISO |
protein:increased expression:serum (mouse) |
RGD |
PMID:28769924 |
RGD:38549587 |
NCBI chr 3:1,502,469...1,507,696
Ensembl chr 3:1,503,188...1,507,696
|
|
|
G |
AICDA |
activation induced cytidine deaminase |
|
ISO |
|
RGD |
PMID:23630966 |
RGD:32716404 |
NCBI chr27:37,064,107...37,073,791
Ensembl chr27:37,064,080...37,073,789
|
|
G |
IL3 |
interleukin 3 |
|
ISO |
|
RGD |
PMID:20500666 |
RGD:5686890 |
NCBI chr11:20,330,480...20,332,668
Ensembl chr11:20,330,480...20,332,668
|
|
G |
IL33 |
interleukin 33 |
|
ISO |
mRNA:increased expression:lung |
RGD |
PMID:22331917 |
RGD:40400742 |
NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
|
|
G |
PLAU |
plasminogen activator, urokinase |
|
ISO |
|
RGD |
PMID:18022622 |
RGD:6484141 |
NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851
|
|
|
G |
IL18 |
interleukin 18 |
treatment |
ISO |
|
RGD |
PMID:16129701 |
RGD:8655932 |
NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
|
|
G |
IL5 |
interleukin 5 |
severity |
ISO |
|
RGD |
PMID:9824515 |
RGD:11354934 |
NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
|
|
|
G |
IL33 |
interleukin 33 |
|
ISO |
influenza and Pneumonia, Staphylococcal |
RGD |
PMID:28401938 |
RGD:40400699 |
NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
|
|
|
G |
MPO |
myeloperoxidase |
severity |
ISO |
|
RGD |
PMID:12085336 |
RGD:40903072 |
NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820
|
|
G |
TNF |
tumor necrosis factor |
|
ISO |
mRNA, protein:increased expression:spleen, plasma |
RGD |
PMID:11562071 |
RGD:10449457 |
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
|
|
|
G |
IL1A |
interleukin 1 alpha |
|
ISO |
|
RGD |
PMID:7835923 |
RGD:7794724 |
NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
|
|
|
G |
RAPGEF3 |
Rap guanine nucleotide exchange factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24218580 |
|
NCBI chr27:6,993,452...7,030,372
Ensembl chr27:6,993,452...7,017,316
|
|
|
G |
CD40 |
CD40 molecule |
|
ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:16463218 |
RGD:11352252 |
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
|
|
G |
CD40LG |
CD40 ligand |
|
ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:16463218 |
RGD:11352252 |
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
|
|
|
G |
TSLP |
thymic stromal lymphopoietin |
|
ISO |
mRNA:increased expression:multiple (mouse) |
RGD |
PMID:24327787 |
RGD:38596353 |
NCBI chr 3:1,502,469...1,507,696
Ensembl chr 3:1,503,188...1,507,696
|
|
|
G |
IL4 |
interleukin 4 |
treatment |
ISO |
|
RGD |
PMID:26732352 |
RGD:11534298 |
NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
|
|
G |
OLIG2 |
oligodendrocyte transcription factor 2 |
|
ISO |
|
RGD |
PMID:25773181 |
RGD:40902825 |
NCBI chr31:27,674,112...27,677,521
Ensembl chr31:27,674,107...27,676,822
|
|
|
G |
BAX |
BCL2 associated X, apoptosis regulator |
|
ISO |
|
RGD |
PMID:24812878 |
RGD:10054127 |
NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
|
|
G |
IL27 |
interleukin 27 |
susceptibility |
ISO |
|
RGD |
PMID:22981537 PMID:31548322 |
RGD:126790501 RGD:126790522 |
NCBI chr 6:18,243,988...18,248,369
Ensembl chr 6:18,244,040...18,247,635
|
|
G |
NFKBIA |
NFKB inhibitor alpha |
exacerbates |
ISO |
human gene in a mouse model |
RGD |
PMID:12626571 |
RGD:126925984 |
NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433
|
|
G |
UCP2 |
uncoupling protein 2 |
susceptibility |
ISO |
|
RGD |
PMID:11101840 |
RGD:737759 |
NCBI chr21:24,304,410...24,311,392
Ensembl chr21:24,304,457...24,311,128
|
|
|
G |
IL10 |
interleukin 10 |
|
ISO |
|
RGD |
PMID:23465441 |
RGD:11049476 |
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
|
|
G |
LTA |
lymphotoxin alpha |
|
ISO |
|
RGD |
PMID:19564380 |
RGD:8548805 |
NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
|
|
G |
SLC17A8 |
solute carrier family 17 member 8 |
|
ISO |
protein:increased expression:dorsal horn of spinal cord, dorsal root ganglion |
RGD |
PMID:22160634 |
RGD:9999169 |
NCBI chr15:39,443,790...39,489,988
Ensembl chr15:39,443,518...39,486,595
|
|
G |
SLC6A4 |
solute carrier family 6 member 4 |
|
ISO |
protein:decreased expression:jejunum (mouse) |
RGD |
PMID:16336502 |
RGD:38676482 |
NCBI chr 9:44,224,026...44,259,655
Ensembl chr 9:44,224,229...44,259,736
|
|
G |
TNF |
tumor necrosis factor |
|
ISO |
|
RGD |
PMID:19564380 |
RGD:8548805 |
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
|
|
G |
TSLP |
thymic stromal lymphopoietin |
disease_progression |
ISO |
|
RGD |
PMID:23024277 |
RGD:38596337 |
NCBI chr 3:1,502,469...1,507,696
Ensembl chr 3:1,503,188...1,507,696
|
|
|
G |
FOXP1 |
forkhead box P1 |
|
ISO |
mRNA:increased expression:duodenum (rat) |
RGD |
PMID:21698235 |
RGD:11561920 |
NCBI chr20:20,438,631...21,020,516
Ensembl chr20:20,788,433...21,016,397
|
|
|
G |
IFNG |
interferon gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20864659 |
|
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
|
|
G |
MPO |
myeloperoxidase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20864659 |
|
NCBI chr 9:32,927,483...32,938,007
Ensembl chr 9:32,927,483...32,937,820
|
|
G |
TSLP |
thymic stromal lymphopoietin |
susceptibility |
ISO |
|
RGD |
PMID:19273626 |
RGD:38549593 |
NCBI chr 3:1,502,469...1,507,696
Ensembl chr 3:1,503,188...1,507,696
|
|
|
G |
A2M |
alpha-2-macroglobulin |
|
ISO |
|
RGD |
PMID:17722867 |
RGD:10046041 |
NCBI chr27:36,654,328...36,695,775
|
|
G |
ADA |
adenosine deaminase |
|
ISO |
|
RGD |
PMID:20809996 |
RGD:5128861 |
NCBI chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160
|
|
G |
BCHE |
butyrylcholinesterase |
|
ISO |
protein:decreased expression:plasma |
RGD |
PMID:20138875 |
RGD:5687328 |
NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
|
|
G |
CD1D |
CD1d molecule |
exacerbates |
ISO |
|
RGD |
PMID:15731095 |
RGD:127345115 |
NCBI chr38:23,489,169...23,491,712
|
|
G |
CXCL8 |
C-X-C motif chemokine ligand 8 |
disease_progression |
ISO |
protein:increased expression:cerebrospinal fluid (human) |
RGD |
PMID:25375156 |
RGD:150521552 |
NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
|
|
G |
IL4 |
interleukin 4 |
treatment |
ISO |
|
RGD |
PMID:24731531 |
RGD:10402804 |
NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
|
|
G |
PRF1 |
perforin 1 |
|
ISO |
|
RGD |
PMID:19651871 |
RGD:6482814 |
NCBI chr 4:21,497,865...21,502,429
Ensembl chr 4:21,498,249...21,500,864
|
|
G |
TLR9 |
toll like receptor 9 |
|
ISO |
mRNA:increased expression:liver (mouse) |
RGD |
PMID:18565585 |
RGD:18337478 |
NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114 Ensembl chr20:37,542,340...37,547,114
|
|
|
G |
CD1D |
CD1d molecule |
|
ISO |
protein:increased expression:B cell (human) |
RGD |
| |