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 .
GViewer not supported for the selected species.
G
Tlr4
toll like receptor 4
ISO
mRNA,protein:increased expression:cornea
RGD
PMID:21155840
RGD:7777095
NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
G
Bcl2
BCL2 apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10861090
NCBI chrNW_004624792:8,854,345...9,032,727
Ensembl chrNW_004624792:8,859,522...9,031,344
G
Cd4
CD4 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9546790
NCBI chrNW_004624860:3,470,886...3,492,247
Ensembl chrNW_004624860:3,470,631...3,492,846
G
Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9379333
NCBI chrNW_004624818:957,597...996,565
G
Ccl17
C-C motif chemokine ligand 17
ISO
associated with Cystic Fibrosis
RGD
PMID:17898016
RGD:4145612
NCBI chrNW_004624746:28,655,288...28,657,563
Ensembl chrNW_004624746:28,655,801...28,657,470
G
Cftr
CF transmembrane conductance regulator
ISO
DNA:mutations: :
RGD
PMID:11243954
RGD:4140482
NCBI chrNW_004624827:1,704,733...1,893,579
G
Icam1
intercellular adhesion molecule 1
ISO
RGD
PMID:7743671
RGD:8547590
NCBI chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
G
Il1a
interleukin 1 alpha
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154
G
LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
susceptibility
ISO
associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human)
RGD
PMID:23278646
RGD:36049760
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
G
LOC101724812
C-C chemokine receptor type 1
ISO
RGD
PMID:15951834
RGD:5688155
NCBI chrNW_004624730:74,822,848...74,828,614
Ensembl chrNW_004624730:74,826,659...74,827,726
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human) DNA:SNP:intron:1011G>A(human)
RGD
PMID:11474427 PMID:16487239
RGD:4889577 RGD:8693711
NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
G
Tnf
tumor necrosis factor
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
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 chrNW_004624860:3,111,244...3,123,041
Ensembl chrNW_004624860:3,111,630...3,122,711
G
Cd274
CD274 molecule
treatment
ISO
RGD
PMID:30315719
RGD:41410787
NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814
G
LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
disease_progression
ISO
DNA:polymorphism: :HLA-DQB1*02(human)
RGD
PMID:9756400
RGD:36174003
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
G
Tlr2
toll like receptor 2
ISO
mRNA:increased expression:PBMC
RGD
PMID:30141853
RGD:15090814
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
G
Il2
interleukin 2
treatment
ISO
RGD
PMID:10862314
RGD:14928216
NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453
G
Il23a
interleukin 23 subunit alpha
ISO
mRNA:increased expression:liver (mouse)
RGD
PMID:26809113
RGD:39458041
NCBI chrNW_004624802:11,662,851...11,664,444
Ensembl chrNW_004624802:11,662,753...11,665,418
G
LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
susceptibility
ISO
DNA:polymorphism, haplotype: :HLA-DQB1*04, HLA-DQB1*02
RGD
PMID:25938667
RGD:36049810
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
G
Tnf
tumor necrosis factor
treatment
ISO
RGD
PMID:10862314
RGD:14928216
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
G
Il25
interleukin 25
ISO
protein:decreased expression:intestine
RGD
PMID:28246365
RGD:39128243
NCBI chrNW_004624820:9,188,709...9,192,180
Ensembl chrNW_004624820:9,188,612...9,191,990
G
Il1rl1
interleukin 1 receptor like 1
treatment
ISO
mRNA:increased expression:brain:
RGD
PMID:23148283 PMID:24657070
RGD:11561855 RGD:40400713
NCBI chrNW_004624749:6,795,822...6,873,068
Ensembl chrNW_004624749:6,795,748...6,873,701
G
Il33
interleukin 33
ISO
protein:increased expression:brain:
RGD
PMID:23148283 PMID:24076431
RGD:40400713 RGD:40400715
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
G
Il5
interleukin 5
ISO
RGD
PMID:8361777
RGD:11354948
NCBI chrNW_004624733:39,544,487...39,558,943
Ensembl chrNW_004624733:39,556,797...39,559,119
G
Mag
myelin associated glycoprotein
disease_progression
ISO
RGD
PMID:20399564
RGD:27226693
NCBI chrNW_004624794:8,237,005...8,251,933
Ensembl chrNW_004624794:8,236,223...8,258,361
G
Mbp
myelin basic protein
disease_progression
ISO
RGD
PMID:20399564
RGD:27226693
NCBI chrNW_004624806:3,465,881...3,587,428
Ensembl chrNW_004624806:3,489,681...3,588,335
G
Mobp
myelin associated oligodendrocyte basic protein
disease_progression
ISO
RGD
PMID:20399564
RGD:27226693
NCBI chrNW_004624730:78,759,681...78,794,632
Ensembl chrNW_004624730:78,762,075...78,773,422
G
Cd40
CD40 molecule
ISO
protein:increased expression:plasmacytoid dendritic cell
RGD
PMID:20702728
RGD:5490530
NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
G
Ccl5
C-C motif chemokine ligand 5
ISO
mRNA, protein:increased expression:blood vessel endothelial cell
RGD
PMID:15710456
RGD:2307183
NCBI chrNW_004624875:3,334,136...3,342,085
Ensembl chrNW_004624875:3,334,078...3,341,614
G
Foxp3
forkhead box P3
ISO
mRNA:decreased expression:placenta:
RGD
PMID:21923716
RGD:38501105
NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679
G
Hspd1
heat shock protein family D (Hsp60) member 1
ISO
RGD
PMID:8881756
RGD:12910478
NCBI chrNW_004624889:2,736,727...2,746,333
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:31231617
RGD:39939039
NCBI chrNW_004624780:3,684,941...3,697,506
Ensembl chrNW_004624780:3,685,069...3,697,474
G
Il17a
interleukin 17A
ISO
mRNA,protein:increased expression:placenta:
RGD
PMID:21923716
RGD:38501105
NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136
G
Il21
interleukin 21
ISO
RGD
PMID:23667536
RGD:127285360
NCBI chrNW_004624777:3,054,368...3,061,304
Ensembl chrNW_004624777:3,054,368...3,061,304
G
Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:15265921
RGD:39457943
NCBI chrNW_004624802:11,662,851...11,664,444
Ensembl chrNW_004624802:11,662,753...11,665,418
G
Il2rb
interleukin 2 receptor subunit beta
ameliorates
ISO
RGD
PMID:11286020
RGD:42724468
NCBI chrNW_004624752:10,662,053...10,682,891
Ensembl chrNW_004624752:10,672,432...10,683,045
G
Il6
interleukin 6
ISO
mRNA:increased expression:placenta:
RGD
PMID:21923716
RGD:38501105
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
G
Ldlr
low density lipoprotein receptor
ISO
RGD
PMID:18316222
RGD:5490254
NCBI chrNW_004624828:2,999,122...3,021,893
Ensembl chrNW_004624828:2,999,169...3,021,987
G
Nr4a2
nuclear receptor subfamily 4 group A member 2
ISO
RGD
PMID:25855987
RGD:11057198
NCBI chrNW_004624732:9,572,160...9,589,624
Ensembl chrNW_004624732:9,581,779...9,589,942
G
Rorc
RAR related orphan receptor C
ISO
mRNA:increased expression:placenta:
RGD
PMID:21923716
RGD:38501105
NCBI chrNW_004624772:19,478,403...19,501,184
Ensembl chrNW_004624772:19,477,093...19,501,169
G
Sting1
stimulator of interferon response cGAMP interactor 1
severity
ISO
RGD
PMID:31416833
RGD:39128220
NCBI chrNW_004624743:32,277,197...32,283,346
Ensembl chrNW_004624743:32,273,385...32,283,235
G
Ager
advanced glycosylation end-product specific receptor
ISO
DNA:SNP:promoter:-374T>A (human)
RGD
PMID:22114731
RGD:8695981
NCBI chrNW_004624754:24,138,086...24,140,900
G
Ccl19
C-C motif chemokine ligand 19
ISO
associated with Neutropenia;mRNA:increased expression:lung
RGD
PMID:19783686
RGD:5130908
NCBI chrNW_004624736:39,088,741...39,090,745
Ensembl chrNW_004624736:39,088,921...39,090,394
G
Ccr7
C-C motif chemokine receptor 7
ISO
associated with Neutropenia
RGD
PMID:19783686
RGD:5130908
NCBI chrNW_004624795:2,777,766...2,787,664
Ensembl chrNW_004624795:2,779,627...2,788,897
G
Cftr
CF transmembrane conductance regulator
severity
ISO
RGD
PMID:22135344
RGD:35673332
NCBI chrNW_004624827:1,704,733...1,893,579
G
Clec1a
C-type lectin domain family 1 member A
susceptibility
ISO
ClinVar Annotator: match by term: Aspergillosis, susceptibility to
OMIM ClinVar
PMID:29489751
NCBI chrNW_004624752:26,837,373...26,855,663
Ensembl chrNW_004624752:26,837,455...26,865,863
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 chrNW_004624752:26,871,556...26,885,778
Ensembl chrNW_004624752:26,871,292...26,891,910
G
Crp
C-reactive protein
treatment
ISO
RGD
PMID:20879853
RGD:9495929
NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804
G
Il15
interleukin 15
ISO
DNA:polymorphism (human)
RGD
PMID:16893395
RGD:4981337
NCBI chrNW_004624853:1,059,625...1,144,799
Ensembl chrNW_004624853:1,128,519...1,144,941
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
RGD
PMID:20064561
RGD:8694071
NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
G
S100b
S100 calcium binding protein B
ISO
DNA:SNP: :427C>T (human)
RGD
PMID:22114731
RGD:8695981
NCBI chrNW_004624745:31,645,927...31,652,846
Ensembl chrNW_004624745:31,645,927...31,652,832
G
Tlr1
toll like receptor 1
susceptibility
ISO
DNA:SNPs: :p.R80T, p.N248S (human)
RGD
PMID:16461792
RGD:4889535
NCBI chrNW_004624840:7,287,772...7,349,282
Ensembl chrNW_004624840:7,287,781...7,290,162
G
Tlr2
toll like receptor 2
ISO
mRNA:increased expression:lung
RGD
PMID:19781388
RGD:4145322
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
G
Tlr6
toll like receptor 6
susceptibility
ISO
DNA:SNP: :p.S249P (human)
RGD
PMID:16461792
RGD:4889535
NCBI chrNW_004624840:7,323,022...7,349,334
G
Rela
RELA proto-oncogene, NF-kB subunit
ISO
ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic | ClinVar Annotator: match by term: RELA-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28600438 PMID:29758562 PMID:32969189 PMID:35412596 PMID:36926348 More...
NCBI chrNW_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272
G
Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:decreased expression:serum (human)
RGD
PMID:25539588
RGD:11541121
NCBI chrNW_004624870:33,293...122,536
G
C3
complement C3
ISO
protein:increased expression:serum
RGD
PMID:3361150
RGD:11041575
NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946
G
Cfb
complement factor B
ISO
protein:increased expression:serum
RGD
PMID:3361150
RGD:11041575
NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:14507644
RGD:5135450
NCBI chrNW_004624757:14,989,241...14,991,650
Ensembl chrNW_004624757:14,989,084...14,991,910
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:14507644
RGD:5135450
NCBI chrNW_004624757:14,995,649...15,009,771
Ensembl chrNW_004624757:14,995,716...15,011,893
G
Ephb2
EPH receptor B2
exacerbates
ISO
RGD
PMID:33685996
RGD:127229905
NCBI chrNW_004624764:7,421,818...7,599,800
Ensembl chrNW_004624764:7,421,862...7,593,482
G
Aire
autoimmune regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12050215
NCBI chrNW_004624745:29,850,410...29,857,351
Ensembl chrNW_004624745:29,850,560...29,857,029
G
Chrm2
cholinergic receptor muscarinic 2
ISO
RGD
PMID:19958780
RGD:5509581
NCBI chrNW_004624765:17,211,162...17,342,505
Ensembl chrNW_004624765:17,333,678...17,340,421
G
Il33
interleukin 33
treatment
ISO
RGD
PMID:22661085
RGD:40400896
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
G
Ltf
lactotransferrin
ISO
RGD
PMID:17922408
RGD:7243948
NCBI chrNW_004624730:74,636,554...74,656,817
Ensembl chrNW_004624730:74,636,522...74,656,886
G
Mapk8
mitogen-activated protein kinase 8
ameliorates
ISO
RGD
PMID:28112734
RGD:150340684
NCBI chrNW_004624928:1,442,216...1,494,275
Ensembl chrNW_004624928:1,439,146...1,494,266
G
Ripk3
receptor interacting serine/threonine kinase 3
exacerbates
ISO
RGD
PMID:30944411
RGD:127229913
NCBI chrNW_004624820:8,165,546...8,169,172
G
Clec7a
C-type lectin domain containing 7A
susceptibility
ISO
ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis
ClinVar OMIM
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chrNW_004624752:26,871,556...26,885,778
Ensembl chrNW_004624752:26,871,292...26,891,910
G
Il17f
interleukin 17F
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 6
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29458167 PMID:30290665 PMID:32047491 PMID:32185379 PMID:34587561 PMID:35753512 PMID:35874679 More...
NCBI chrNW_004624855:3,865,559...3,867,175
Ensembl chrNW_004624855:3,848,409...3,867,175
G
Traf3ip2
TRAF3 interacting protein 2
susceptibility
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 chrNW_004624933:507,879...558,357
Ensembl chrNW_004624933:506,254...554,015
G
Brk1
BRICK1 subunit of SCAR/WAVE actin nucleating complex
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chrNW_004624731:4,679,060...4,685,892
Ensembl chrNW_004624731:4,678,731...4,687,617
G
Cidec
cell death inducing DFFA like effector c
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chrNW_004624731:4,474,912...4,484,866
Ensembl chrNW_004624731:4,474,689...4,484,894
G
Creld1
cysteine rich with EGF like domains 1
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624731:4,537,073...4,544,256
Ensembl chrNW_004624731:4,537,089...4,544,256
G
Emc3
ER membrane protein complex subunit 3
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chrNW_004624731:4,556,481...4,577,612
Ensembl chrNW_004624731:4,557,842...4,577,602
G
Fancd2
FA complementation group D2
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chrNW_004624731:4,577,663...4,671,086
Ensembl chrNW_004624731:4,611,963...4,671,765
G
Fancd2os
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chrNW_004624731:4,672,192...4,675,326
Ensembl chrNW_004624731:4,672,535...4,673,071
G
Il17rc
interleukin 17 receptor C
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9 | ClinVar Annotator: match by term: IL17RC-related condition
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25918342 PMID:28492532 More...
NCBI chrNW_004624731:4,524,090...4,536,879
Ensembl chrNW_004624731:4,525,556...4,536,858
G
Prrt3
proline rich transmembrane protein 3
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chrNW_004624731:4,544,664...4,552,890
Ensembl chrNW_004624731:4,544,936...4,548,677
G
Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chrNW_004624731:5,350,912...5,359,286
G
Ace2
angiotensin converting enzyme 2
susceptibility
ISO
DNA:SNP:intron 1: C>T
RGD
PMID:20117248
RGD:40818420
NCBI chrNW_004624829:344,823...391,451
Ensembl chrNW_004624829:344,933...391,527
G
Aqp4
aquaporin 4
disease_progression
ISO
protein:increased expression:astrocyte:
RGD
PMID:21904632
RGD:8698661
NCBI chrNW_004624770:5,581,192...5,593,470
Ensembl chrNW_004624770:5,580,808...5,594,628
G
Cast
calpastatin
ISO
protein:increased express:brain
RGD
PMID:16236382
RGD:5509817
NCBI chrNW_004624743:15,265,930...15,405,904
Ensembl chrNW_004624743:15,346,837...15,403,150
G
Cd36
CD36 molecule (CD36 blood group)
ISO
RGD
PMID:17367535
RGD:6893527
NCBI chrNW_004624739:29,341,620...29,441,232
Ensembl chrNW_004624739:29,407,568...29,441,333
G
Il1rl1
interleukin 1 receptor like 1
treatment
ISO
RGD
PMID:25682948
RGD:40400741
NCBI chrNW_004624749:6,795,822...6,873,068
Ensembl chrNW_004624749:6,795,748...6,873,701
G
Il33
interleukin 33
treatment
ISO
protein:increased expression:brain
RGD
PMID:25659095 PMID:25682948
RGD:39938955 RGD:40400741
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
G
Jak3
Janus kinase 3
ISO
RGD
PMID:22363534
RGD:11531103
NCBI chrNW_004624908:1,371,595...1,383,879
Ensembl chrNW_004624908:1,371,595...1,383,879
G
Lta
lymphotoxin alpha
ISO
RGD
PMID:12021316
RGD:10449455
NCBI chrNW_004624754:24,626,930...24,628,412
Ensembl chrNW_004624754:24,627,318...24,628,182
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 chrNW_004624780:11,297,306...11,525,236
Ensembl chrNW_004624780:11,301,182...12,424,066
G
Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
RGD
PMID:25775137
RGD:38599200
NCBI chrNW_004624739:22,737,376...22,772,696
Ensembl chrNW_004624739:22,737,270...22,772,589
G
Prkaa2
protein kinase AMP-activated catalytic subunit alpha 2
ISO
mRNA:decreased expression:brain (mouse)
RGD
PMID:29107705
RGD:39456137
NCBI chrNW_004624862:3,443,720...3,496,078
Ensembl chrNW_004624862:3,450,078...3,496,142
G
Tnfrsf1b
TNF receptor superfamily member 1B
ISO
RGD
PMID:12228317
RGD:5131158
NCBI chrNW_004624818:894,470...922,806
Ensembl chrNW_004624818:896,150...922,710
G
Nfkb1
nuclear factor kappa B subunit 1
severity
ISO
RGD
PMID:20156658
RGD:40902838
NCBI chrNW_004624830:5,334,273...5,430,887
Ensembl chrNW_004624830:5,333,616...5,408,723
G
Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
RGD
PMID:17187651
RGD:7349350
NCBI chrNW_004624766:21,493,125...21,522,535
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 chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
G
Il10
interleukin 10
treatment
ISO
RGD
PMID:24055715
RGD:7364866
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
G
Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:28356392
RGD:39457935
NCBI chrNW_004624802:11,662,851...11,664,444
Ensembl chrNW_004624802:11,662,753...11,665,418
G
Mbl2
mannose binding lectin 2
severity
ISO
RGD
PMID:26745156
RGD:11076757
NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
G
Pcna
proliferating cell nuclear antigen
ISO
protein:increased expression:myocardium:
RGD
PMID:12435130
RGD:10448990
NCBI chrNW_004624741:6,143,584...6,148,055
Ensembl chrNW_004624741:6,143,332...6,148,898
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 chrNW_004624739:22,737,376...22,772,696
Ensembl chrNW_004624739:22,737,270...22,772,589
G
Ccl5
C-C motif chemokine ligand 5
ISO
RGD
PMID:20452453
RGD:4889906
NCBI chrNW_004624875:3,334,136...3,342,085
Ensembl chrNW_004624875:3,334,078...3,341,614
G
Chrm2
cholinergic receptor muscarinic 2
ISO
RGD
PMID:9148906
RGD:5509585
NCBI chrNW_004624765:17,211,162...17,342,505
Ensembl chrNW_004624765:17,333,678...17,340,421
G
F2
coagulation factor II, thrombin
ISO
protein:increased expression:blood plasma (human)
RGD
PMID:20699256 PMID:21866301
RGD:40818435 RGD:5147778
NCBI chrNW_004624767:1,876,974...1,887,720
Ensembl chrNW_004624767:1,877,024...1,887,958
G
Hspa4
heat shock protein family A (Hsp70) member 4
ISO
RGD
PMID:21801456
RGD:6218957
NCBI chrNW_004624733:39,022,511...39,068,153
Ensembl chrNW_004624733:39,021,738...39,068,132
G
Ifng
interferon gamma
ISO
RGD
PMID:10684988
RGD:10755744
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
G
Il23a
interleukin 23 subunit alpha
susceptibility
ISO
RGD
PMID:23182712
RGD:39457956
NCBI chrNW_004624802:11,662,851...11,664,444
Ensembl chrNW_004624802:11,662,753...11,665,418
G
Soat1
sterol O-acyltransferase 1
ameliorates
ISO
DNA:SNP:exon: rs1044925 (human)
RGD
PMID:31236660
RGD:126925205
NCBI chrNW_004624771:2,992,752...3,055,842
Ensembl chrNW_004624771:2,994,696...3,055,916
G
Vim
vimentin
severity
ISO
protein:increased expression:plasma
RGD
PMID:22199233
RGD:6480538
NCBI chrNW_004624796:10,624,672...10,632,300
Ensembl chrNW_004624796:10,623,929...10,632,600
G
Clec7a
C-type lectin domain containing 7A
ISO
ClinVar Annotator: match by term: Candidiasis familial chronic mucocutaneous, autosomal recessive
ClinVar
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868
NCBI chrNW_004624752:26,871,556...26,885,778
Ensembl chrNW_004624752:26,871,292...26,891,910
G
Il17ra
interleukin 17 receptor A
ISO
ClinVar Annotator: match by term: Familial Candidiasis, Recessive
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chrNW_004624735:10,139,787...10,164,074
Ensembl chrNW_004624735:10,138,418...10,164,198
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 chrNW_004624928:1,442,216...1,494,275
Ensembl chrNW_004624928:1,439,146...1,494,266
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 chrNW_004624854:5,067,578...5,106,052
Ensembl chrNW_004624854:5,067,535...5,102,106
G
Fas
Fas cell surface death receptor
ISO
mRNA, protein:increased expression:liver
RGD
PMID:18427836
RGD:2315733
NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
G
Faslg
Fas ligand
ISO
mRNA, protein:increased expression:liver
RGD
PMID:18427836
RGD:2315733
NCBI chrNW_004624771:9,031,978...9,038,760
Ensembl chrNW_004624771:9,032,016...9,038,825
G
Il33
interleukin 33
ISO
mRNA,protein:increased expression:liver, serum: protein:increased expression:serum:
RGD
PMID:26944417
RGD:39939001
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
G
Tlr2
toll like receptor 2
ISO
RGD
PMID:28784165
RGD:15090810
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
G
Il2rb
interleukin 2 receptor subunit beta
exacerbates
ISO
RGD
PMID:20460838
RGD:42724464
NCBI chrNW_004624752:10,662,053...10,682,891
Ensembl chrNW_004624752:10,672,432...10,683,045
G
Cd274
CD274 molecule
treatment
ISO
RGD
PMID:29058791
RGD:41412178
NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
associated with HIV Infections;DNA:polymorphism:cds:
RGD
PMID:21592999
RGD:12910861
NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
G
Pdcd1
programmed cell death 1
treatment
ISO
RGD
PMID:29058791
RGD:41412178
NCBI chrNW_004624847:5,732,922...5,741,908
Ensembl chrNW_004624847:5,732,767...5,742,269
G
Btk
Bruton tyrosine kinase
exacerbates
ISO
RGD
PMID:23820392
RGD:124715476
NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171
G
Cd40
CD40 molecule
treatment
ISO
RGD
PMID:16552046
RGD:7248435
NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
G
Cd86
CD86 molecule
ISO
protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:16790753
RGD:4892554
NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712
G
Cxcl8
C-X-C motif chemokine ligand 8
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:27596810
RGD:38549345
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
G
Il23a
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:16393998 PMID:22342846
RGD:39457936 RGD:39458042
NCBI chrNW_004624802:11,662,851...11,664,444
Ensembl chrNW_004624802:11,662,753...11,665,418
G
Il33
interleukin 33
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:27596810
RGD:38549345
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
G
Il4r
interleukin 4 receptor
ISO
RGD
PMID:18954266
RGD:4890005
NCBI chrNW_004624782:11,981,781...12,008,362
G
Marco
macrophage receptor with collagenous structure
disease_progression
ISO
RGD
PMID:28298522
RGD:41412191
NCBI chrNW_004624732:26,203,345...26,236,001
Ensembl chrNW_004624732:26,203,219...26,236,057
G
Sftpc
surfactant protein C
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:27596810
RGD:38549345
NCBI chrNW_004624758:17,742,439...17,744,664
Ensembl chrNW_004624758:17,742,415...17,744,655
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphisms, haplotype:promoter,exon:
RGD
PMID:19827946
RGD:12910843
NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
G
Cat
catalase
ISO
protein:decreased activity:erythrocyte:
RGD
PMID:9892499
RGD:9479188
NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739
G
Cd163
CD163 molecule
ISO
mRNA, protein:increased expression:skin of body, blood plasma, CD14-positive monocyte (human)
RGD
PMID:32023254
RGD:127345130
NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349
G
Cd274
CD274 molecule
ISO
RGD
PMID:16358363
RGD:41410801
NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814
G
Col1a1
collagen type I alpha 1 chain
ISO
DNA:SNPs: :rs1061237, rs2586488 (human)
RGD
PMID:25562121
RGD:11041176
NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071
G
Cxcl8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
G
Foxp3
forkhead box P3
ISO
mRNA:increased expression:Peripheral blood mononuclear cell:
RGD
PMID:29205403
RGD:38455981
NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679
G
Ifng
interferon gamma
treatment
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
RGD CTD
PMID:8154019 PMID:9234779 PMID:20102417 PMID:27999013
RGD:40890273
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
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 chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
G
Il13
interleukin 13
treatment
ISO
RGD
PMID:12739821 PMID:18924210
RGD:8549536 RGD:8549561
NCBI chrNW_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843
G
Il17a
interleukin 17A
ISO
mRNA:increased expression:Peripheral blood mononuclear cell:
RGD
PMID:29205403
RGD:38455981
NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136
G
Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
G
Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:29078003
RGD:39457938
NCBI chrNW_004624802:11,662,851...11,664,444
Ensembl chrNW_004624802:11,662,753...11,665,418
G
Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chrNW_004624733:39,412,800...39,420,079
G
LOC101724812
C-C chemokine receptor type 1
ISO
RGD
PMID:12874303
RGD:5688168
NCBI chrNW_004624730:74,822,848...74,828,614
Ensembl chrNW_004624730:74,826,659...74,827,726
G
Lta
lymphotoxin alpha
no_association
ISO
DNA:SNP:intron:252A>G (human)
RGD
PMID:16950634
RGD:8548800
NCBI chrNW_004624754:24,626,930...24,628,412
Ensembl chrNW_004624754:24,627,318...24,628,182
G
Ltb
lymphotoxin beta
ISO
RGD
PMID:17911622
RGD:8548820
NCBI chrNW_004624754:24,618,888...24,620,448
G
Mmp2
matrix metallopeptidase 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21091666
RGD:8657030
NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255
G
Pdcd1lg2
programmed cell death 1 ligand 2
ISO
RGD
PMID:16358363
RGD:41410801
NCBI chrNW_004624736:10,049,428...10,056,849
G
Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
treatment
ISO
RGD
PMID:27999013
RGD:40890273
NCBI chrNW_004624818:2,751,724...2,789,145
Ensembl chrNW_004624818:2,751,724...2,779,999
G
Slc11a1
solute carrier family 11 member 1
ISO
DNA:insertion/deletion (human)
RGD
PMID:20089160
RGD:5684930
NCBI chrNW_004624823:6,612,452...6,625,047
Ensembl chrNW_004624823:6,612,452...6,625,300
G
Sod1
superoxide dismutase 1
ISO
protein:increased activity:erythrocyte:
RGD
PMID:9892499
RGD:9479188
NCBI chrNW_004624745:20,032,003...20,037,958
Ensembl chrNW_004624745:20,032,011...20,037,958
G
Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:10458767
RGD:8661703
NCBI chrNW_004624854:4,975,724...5,056,940
Ensembl chrNW_004624854:4,976,507...5,057,391
G
Tlr2
toll like receptor 2
ISO
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
G
Tlr4
toll like receptor 4
ISO
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
G
Tnf
tumor necrosis factor
no_association
ISO
DNA:SNP:promoter:-308G>A (rs1800629) (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16950634 PMID:20102417
RGD:8548800
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
G
Il4
interleukin 4
treatment
ISO
RGD
PMID:25726962
RGD:14696685
NCBI chrNW_004624733:39,412,800...39,420,079
G
LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
ISO
DNA:polymorphisms: :HLA-DQB1*0.9, DQB1*02(human)
RGD
PMID:22308705
RGD:36174019
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
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 chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
G
Tlr4
toll like receptor 4
ISO
mRNA:increased expression:peripheral blood monocyte:
RGD
PMID:21923667
RGD:18182935
NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
G
Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24270252
NCBI chrNW_004624735:34,105,237...34,123,479
Ensembl chrNW_004624735:34,104,537...34,123,624
G
Il5
interleukin 5
ISO
mRNA: increased expression: : peritoneal lavage cells
RGD
PMID:21912714
RGD:5687176
NCBI chrNW_004624733:39,544,487...39,558,943
Ensembl chrNW_004624733:39,556,797...39,559,119
G
LOC101719398
serotransferrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24270252
NCBI chrNW_004624730:10,078,165...10,109,349
G
Il21
interleukin 21
ISO
protein:increased expression:CD4-positive helper T cell (mouse)
RGD
PMID:26597007
RGD:11086452
NCBI chrNW_004624777:3,054,368...3,061,304
Ensembl chrNW_004624777:3,054,368...3,061,304
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16374615 PMID:29255076
RGD:14975099
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
G
Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16374615
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
G
Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16374615
NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
G
Il2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16374615
NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453
G
Il5
interleukin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16374615
NCBI chrNW_004624733:39,544,487...39,558,943
Ensembl chrNW_004624733:39,556,797...39,559,119
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16374615
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
G
Nfkb1
nuclear factor kappa B subunit 1
severity
ISO
RGD
PMID:20086086
RGD:40902842
NCBI chrNW_004624830:5,334,273...5,430,887
Ensembl chrNW_004624830:5,333,616...5,408,723
G
Tlr4
toll like receptor 4
ISO
RGD
PMID:15910421
RGD:7241086
NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
G
Ctsb
cathepsin B
ISO
protein:decreased activity:liver (rat)
RGD
PMID:19696938
RGD:2315504
NCBI chrNW_004624758:25,366,120...25,384,554
Ensembl chrNW_004624758:25,366,840...25,373,954
G
Glud1
glutamate dehydrogenase 1
ISO
protein:increased expression:serum
RGD
PMID:10431747
RGD:6484593
NCBI chrNW_004624841:133,267...171,324
G
Il1rl1
interleukin 1 receptor like 1
ISO
RGD
PMID:27592711
RGD:40400889
NCBI chrNW_004624749:6,795,822...6,873,068
Ensembl chrNW_004624749:6,795,748...6,873,701
G
Cd274
CD274 molecule
ISO
mRNA, protein:increased expression:liver
RGD
PMID:25907244
RGD:41412175
NCBI chrNW_004624736:9,991,851...10,017,047
Ensembl chrNW_004624736:9,996,156...10,013,814
G
Igf2
insulin like growth factor 2
ISO
protein:decreased expression:serum
RGD
PMID:12927688
RGD:5509967
NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026
G
Pdcd1
programmed cell death 1
ISO
mRNA, protein:increased expression:liver
RGD
PMID:25907244
RGD:41412175
NCBI chrNW_004624847:5,732,922...5,741,908
Ensembl chrNW_004624847:5,732,767...5,742,269
G
Krt18
keratin 18
disease_progression
ISO
protein:increased expression:serum (mouse, human)
RGD
PMID:21357724
RGD:21406434
NCBI chrNW_004624904:1,011,675...1,015,319
Ensembl chrNW_004624904:1,011,755...1,015,416
G
Serpinf1
serpin family F member 1
ISO
RGD
PMID:9038736
RGD:30296660
NCBI chrNW_004624786:4,487,005...4,497,706
Ensembl chrNW_004624786:4,486,978...4,497,585
G
Il1rl1
interleukin 1 receptor like 1
ISO
RGD
PMID:22329990
RGD:39938827
NCBI chrNW_004624749:6,795,822...6,873,068
Ensembl chrNW_004624749:6,795,748...6,873,701
G
Il33
interleukin 33
ISO
mRNA,protein:increased expression:Bronchoalveolar lavage, epithelium, macrophage
RGD
PMID:22329990
RGD:39938827
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
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 PMID:35727133 More...
NCBI chrNW_004624760:1,533,247...1,542,529
Ensembl chrNW_004624760:1,533,390...1,540,162
G
Entr1
endosome associated trafficking regulator 1
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chrNW_004624760:1,562,213...1,568,630
Ensembl chrNW_004624760:1,562,033...1,568,550
G
Inpp5e
inositol polyphosphate-5-phosphatase E
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chrNW_004624760:1,586,003...1,594,869
Ensembl chrNW_004624760:1,586,848...1,594,835
G
Pmpca
peptidase, mitochondrial processing subunit alpha
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chrNW_004624760:1,568,655...1,576,273
Ensembl chrNW_004624760:1,568,710...1,575,867
G
Snapc4
small nuclear RNA activating complex polypeptide 4
ISO
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chrNW_004624760:1,542,979...1,561,164
Ensembl chrNW_004624760:1,543,498...1,561,178
G
Il21r
interleukin 21 receptor
ISO
ClinVar Annotator: match by term: Immunodeficiency 31C
ClinVar
PMID:25741868
NCBI chrNW_004624782:12,037,338...12,070,479
Ensembl chrNW_004624782:12,057,651...12,068,650
G
Stat1
signal transducer and activator of transcription 1
ISO
ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | ClinVar Annotator: match by term: Candidiasis, familial, 7 | ClinVar Annotator: match by term: Immunodeficiency 31C
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21714643 PMID:21727188 PMID:22195034 PMID:22730530 PMID:22847544 PMID:23245795 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24188975 PMID:24239102 PMID:24343863 PMID:25042743 PMID:25288569 PMID:25326637 PMID:25367169 PMID:25741868 PMID:26242301 PMID:26255980 PMID:26479788 PMID:26494717 PMID:26513235 PMID:26604104 PMID:26743090 PMID:27114460 PMID:27379765 PMID:27577878 PMID:28011069 PMID:28161409 PMID:28258222 PMID:28427548 PMID:28492532 PMID:28597685 PMID:28622416 PMID:28753426 PMID:28815025 PMID:30317461 PMID:30442829 PMID:31362757 PMID:31448411 PMID:31677808 PMID:32582194 PMID:32888943 PMID:33679782 More...
NCBI chrNW_004624854:5,067,578...5,106,052
Ensembl chrNW_004624854:5,067,535...5,102,106
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 chrNW_004624735:10,023,330...10,052,600
G
Arvcf
ARVCF delta catenin family member
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004624747:590,293...643,797
Ensembl chrNW_004624747:591,891...610,988
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 chrNW_004624735:9,704,600...9,726,297
Ensembl chrNW_004624735:9,703,863...9,726,275
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 chrNW_004624735:9,594,134...9,692,967
Ensembl chrNW_004624735:9,599,383...9,687,277
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 chrNW_004624735:9,557,732...9,590,862
Ensembl chrNW_004624735:9,579,979...9,589,260
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 chrNW_004624747:132,731...161,590
Ensembl chrNW_004624747:132,835...161,553
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 chrNW_004624747:164,113...166,502
Ensembl chrNW_004624747:164,761...165,417
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 chrNW_004624747:569,127...588,479
Ensembl chrNW_004624747:581,832...588,333
G
CUNH22orf39
chromosome unknown C22orf39 homolog
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004624747:101,938...109,335
Ensembl chrNW_004624747:103,310...107,382
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 chrNW_004624945:204,374...295,551
Ensembl chrNW_004624945:204,133...297,341
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 chrNW_004624945:176,773...187,586
Ensembl chrNW_004624945:176,678...188,040
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 chrNW_004624747:418,912...489,057
Ensembl chrNW_004624747:418,519...489,529
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 chrNW_004624747:352,129...354,173
Ensembl chrNW_004624747:352,165...354,170
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 chrNW_004624945:172,345...176,453
Ensembl chrNW_004624945:172,345...176,191
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 chrNW_004624735:10,081,128...10,116,062
Ensembl chrNW_004624735:10,083,475...10,093,543
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 chrNW_004624735:10,139,787...10,164,074
Ensembl chrNW_004624735:10,138,418...10,164,198
G
LOC101713307
protein HIRA
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004624747:9...95,643
G
LOC101714324
cat eye syndrome critical region protein 2
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004624735:9,749,105...9,896,328
Ensembl chrNW_004624735:9,747,550...9,896,370
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 chrNW_004624735:9,332,637...9,545,164
Ensembl chrNW_004624735:9,332,682...9,545,157
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 chrNW_004624747:96,411...99,490
Ensembl chrNW_004624747:96,418...100,913
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 chrNW_004624735:9,248,065...9,262,975
Ensembl chrNW_004624735:9,251,046...9,263,199
G
Rtl10
retrotransposon Gag like 10
ISO
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chrNW_004624747:484,995...486,791
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 chrNW_004624945:155,596...159,042
Ensembl chrNW_004624945:155,604...159,667
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 chrNW_004624735:9,727,342...9,745,832
Ensembl chrNW_004624735:9,724,167...9,739,169
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 chrNW_004624747:647,571...686,870
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 chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098
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 chrNW_004624735:10,126,228...10,132,621
Ensembl chrNW_004624735:10,127,789...10,129,549
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 chrNW_004624735:9,211,458...9,229,909
Ensembl chrNW_004624735:9,211,152...9,230,303
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 chrNW_004624747:485,012...569,175
Ensembl chrNW_004624747:514,158...569,154
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 chrNW_004624747:110,090...132,145
Ensembl chrNW_004624747:110,090...132,097
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 chrNW_004624735:9,158,597...9,187,503
G
Ifng
interferon gamma
ISO
RGD
PMID:29950724
RGD:14974257
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
G
Nfkb1
nuclear factor kappa B subunit 1
disease_progression
ISO
RGD
PMID:12370384
RGD:40902988
NCBI chrNW_004624830:5,334,273...5,430,887
Ensembl chrNW_004624830:5,333,616...5,408,723
G
Nfkb2
nuclear factor kappa B subunit 2
treatment
ISO
RGD
PMID:12370384
RGD:40902988
NCBI chrNW_004624831:1,804,050...1,810,309
Ensembl chrNW_004624831:1,803,917...1,810,187
G
Ager
advanced glycosylation end-product specific receptor
ISO
RGD
PMID:21423669
RGD:5508765
NCBI chrNW_004624754:24,138,086...24,140,900
G
Ccl20
C-C motif chemokine ligand 20
ISO
protein:increased expression:lung
RGD
PMID:20926800
RGD:7483599
NCBI chrNW_004624843:2,017,738...2,021,153
G
Ccr6
C-C motif chemokine receptor 6
disease_progression
ISO
RGD
PMID:17379855
RGD:7483617
NCBI chrNW_004624785:12,190,802...12,203,924
G
Cxcr3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:17298426
RGD:5135501
NCBI chrNW_004624903:1,958,323...1,961,789
Ensembl chrNW_004624903:1,958,698...1,961,763
G
Il17a
interleukin 17A
severity
ISO
RGD
PMID:21807912
RGD:8698654
NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136
G
LOC101709509
cytochrome b-245 heavy chain
ISO
RGD
PMID:24054721
RGD:10450528
NCBI chrNW_004624762:17,759,625...17,793,434
Ensembl chrNW_004624762:17,757,404...17,793,467
G
LOC101715199
neutrophil elastase
ISO
RGD
PMID:24054721
RGD:10450528
NCBI chrNW_004624828:7,720,020...7,722,842
G
Mbl2
mannose binding lectin 2
ISO
DNA:SNP:exon:rs5030737(human)
RGD
PMID:17311505
RGD:8693758
NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
G
Ptx3
pentraxin 3
severity
ISO
DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527 protein:increased expression:bronchoalveolar lavage fluid (human)
RGD
PMID:28487045 PMID:30275011
RGD:38501097 RGD:38508892
NCBI chrNW_004624730:35,125,536...35,131,645
Ensembl chrNW_004624730:35,125,605...35,131,367
G
S100b
S100 calcium binding protein B
ISO
RGD
PMID:21423669
RGD:5508765
NCBI chrNW_004624745:31,645,927...31,652,846
Ensembl chrNW_004624745:31,645,927...31,652,832
G
Tlr2
toll like receptor 2
ISO
RGD
PMID:16113258
RGD:8553022
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
G
Tlr4
toll like receptor 4
susceptibility
ISO
DNA:polymorphism:exon:p.D299G(human)
RGD
PMID:18275280
RGD:5130863
NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
G
Itgam
integrin subunit alpha M
ISO
protein: increased expression: kidney
RGD
PMID:21063074
RGD:7207265
NCBI chrNW_004624782:14,316,505...14,367,841
Ensembl chrNW_004624782:14,318,499...14,367,922
G
Ptx3
pentraxin 3
severity
ISO
associated with hematologic cancer;DNA:SNP:intron:rs1840680
RGD
PMID:30275011
RGD:38501097
NCBI chrNW_004624730:35,125,536...35,131,645
Ensembl chrNW_004624730:35,125,605...35,131,367
G
Fgf2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chrNW_004624777:3,268,674...3,321,424
Ensembl chrNW_004624777:3,268,953...3,321,145
G
Il1a
interleukin 1 alpha
ISO
DNA:polymorphism, haplotype:promoter:-889C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154
G
Il1b
interleukin 1 beta
ISO
DNA:polymorphism, haplotype: :-511C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
G
Itih4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
protein:increased expression:respiratory system fluid/secretion, serum
RGD
PMID:24360996
RGD:40903005
NCBI chrNW_004624822:4,397,704...4,411,562
Ensembl chrNW_004624822:4,397,744...4,411,406
G
Mbl2
mannose binding lectin 2
treatment
ISO
RGD
PMID:17335555
RGD:8693746
NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
G
Ptx3
pentraxin 3
no_association susceptibility
ISO
protein:increased expression:bronchoalveolar lavage fluid, plasma (human) DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527 protein:increased expression:plasma DNA:SNP:intron:rs1840680 (human)
RGD
PMID:29020397 PMID:29964232
RGD:38501098 RGD:38508894
NCBI chrNW_004624730:35,125,536...35,131,645
Ensembl chrNW_004624730:35,125,605...35,131,367
G
Vegfa
vascular endothelial growth factor A
treatment
ISO
RGD
PMID:23303813
RGD:8655596
NCBI chrNW_004624754:15,929,414...15,943,637
G
Ager
advanced glycosylation end-product specific receptor
ISO
protein:increased expression:brain
RGD
PMID:25014011
RGD:8695986
NCBI chrNW_004624754:24,138,086...24,140,900
G
Arg1
arginase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21232540
NCBI chrNW_004624753:5,737,720...5,749,313
Ensembl chrNW_004624753:5,737,237...5,752,966
G
Btk
Bruton tyrosine kinase
susceptibility
ISO
RGD
PMID:28783468
RGD:124715477
NCBI chrNW_004624902:1,173,101...1,216,662
Ensembl chrNW_004624902:1,182,682...1,216,171
G
C3
complement C3
ISO
RGD
PMID:15378355
RGD:7401274
NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946
G
Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218153
NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804
G
Dusp6
dual specificity phosphatase 6
treatment
ISO
RGD
PMID:21471446
RGD:7771536
NCBI chrNW_004624750:17,361,725...17,366,907
Ensembl chrNW_004624750:17,362,515...17,367,739
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:2145107 PMID:16540374 PMID:17218153
RGD:7829781
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
G
Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374 PMID:20404924
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
G
Il18
interleukin 18
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10768930 PMID:16879623
RGD:8655909
NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687
G
Il2
interleukin 2
ISO
RGD
PMID:6224858
RGD:8693326
NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453
G
Il21
interleukin 21
exacerbates
ISO
protein:increased expression:popliteal lymph node (mouse)
RGD
PMID:22429963
RGD:127285547
NCBI chrNW_004624777:3,054,368...3,061,304
Ensembl chrNW_004624777:3,054,368...3,061,304
G
Il27
interleukin 27
exacerbates
ISO
RGD
PMID:25466588
RGD:126790552
NCBI chrNW_004624782:13,009,450...13,015,548
Ensembl chrNW_004624782:13,009,564...13,015,440
G
Il4
interleukin 4
treatment
ISO
protein:increased expression:serum
RGD
PMID:2145107 PMID:2521244
RGD:7829781 RGD:7829820
NCBI chrNW_004624733:39,412,800...39,420,079
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
G
Itgb2
integrin subunit beta 2
ameliorates
ISO
RGD
PMID:14502280
RGD:127285813
NCBI chrNW_004624745:30,452,576...30,479,036
Ensembl chrNW_004624745:30,452,576...30,470,611
G
Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670606
NCBI chrNW_004624772:18,287,587...18,292,384
Ensembl chrNW_004624772:18,289,509...18,319,033
G
Slc6a4
solute carrier family 6 member 4
ISO
lupoid leishmaniasis;protein:increased expression:skin of body (human)
RGD
PMID:23989888
RGD:36947873
NCBI chrNW_004624786:2,673,285...2,711,432
Ensembl chrNW_004624786:2,672,552...2,710,914
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
G
Tnfrsf18
TNF receptor superfamily member 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20139272
NCBI chrNW_004624818:8,376,204...8,380,266
Ensembl chrNW_004624818:8,378,131...8,379,974
G
Tnfsf4
TNF superfamily member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10637281
NCBI chrNW_004624771:8,580,489...8,599,735
G
Vdr
vitamin D receptor
ISO
RGD
PMID:17551101
RGD:8158083
NCBI chrNW_004624816:4,314,146...4,423,946
Ensembl chrNW_004624816:4,365,961...4,424,514
G
Ccl20
C-C motif chemokine ligand 20
ISO
protein:increased expression:synovial fluid
RGD
PMID:23371320
RGD:7488895
NCBI chrNW_004624843:2,017,738...2,021,153
G
Nod2
nucleotide binding oligomerization domain containing 2
ISO
RGD
PMID:21387014
RGD:5508754
NCBI chrNW_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103
G
Plaur
plasminogen activator, urokinase receptor
ISO
mRNA:increased expression:skin
RGD
PMID:19461880
RGD:6483813
NCBI chrNW_004624907:1,174,648...1,188,919
Ensembl chrNW_004624907:1,174,448...1,189,377
G
Cd40
CD40 molecule
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338
G
Cxcl8
C-X-C motif chemokine ligand 8
treatment
ISO
RGD
PMID:24239846
RGD:39939054
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
G
Il1b
interleukin 1 beta
ISO
RGD
PMID:23134838
RGD:7193053
NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
G
Ace
angiotensin I converting enzyme
severity
ISO
RGD
PMID:31234939
RGD:39939120
NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521
G
Ackr1
atypical chemokine receptor 1 (Duffy blood group)
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 chrNW_004624794:2,055,917...2,124,815
Ensembl chrNW_004624794:2,120,786...2,122,232
G
Aicda
activation induced cytidine deaminase
ISO
protein:increased expression: B cell
RGD
PMID:27980783
RGD:30310233
NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634
G
Ank1
ankyrin 1
ISO
OMIM:609148 | OMIM:611162
MouseDO
NCBI chrNW_004624780:1,429,415...1,619,010
Ensembl chrNW_004624780:1,429,403...1,617,743
G
Apoe
apolipoprotein E
ISO
DNA:missense mutations:cds:p.C112R, p.C158R (human)
RGD
PMID:24116184
RGD:11039486
NCBI chrNW_004624907:1,752,322...1,755,308
G
Aqp4
aquaporin 4
ISO
OMIM:609148 | OMIM:611162
MouseDO
NCBI chrNW_004624770:5,581,192...5,593,470
Ensembl chrNW_004624770:5,580,808...5,594,628
G
Cbs
cystathionine beta-synthase
susceptibility
ISO
DNA:insertion:cds: (844ins68) (human)
RGD
PMID:27198213
RGD:40903062
NCBI chrNW_004624745:27,676,430...27,687,573
Ensembl chrNW_004624745:27,673,748...27,688,462
G
Cd163
CD163 molecule
severity exacerbates
ISO
protein:altered expression:blood plasma (human) protein:increased expression:blood plasma (human)
RGD
PMID:18632918 PMID:22290142
RGD:127285797 RGD:149735529
NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349
G
Cd36
CD36 molecule (CD36 blood group)
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 PMID:28960434 PMID:33116287 More...
NCBI chrNW_004624739:29,341,620...29,441,232
Ensembl chrNW_004624739:29,407,568...29,441,333
G
Cd40
CD40 molecule
severity
ISO
RGD
PMID:11485931
RGD:11352239
NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
G
Cd40lg
CD40 ligand
severity
ISO
RGD
PMID:11485931
RGD:11352239
NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338
G
Cish
cytokine inducible SH2 containing protein
susceptibility
ISO
ClinVar Annotator: match by term: Malaria, susceptibility to
OMIM ClinVar
PMID:20484391
NCBI chrNW_004624730:4,434,817...4,440,269
Ensembl chrNW_004624730:4,435,847...4,440,143
G
Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8730300
NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804
G
Ctla4
cytotoxic T-lymphocyte associated protein 4
disease_progression treatment
ISO
RGD
PMID:28892065
RGD:38455986
NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324
G
Ephb2
EPH receptor B2
ISO
mRNA:increased expression:liver
RGD
PMID:25784101
RGD:127285023
NCBI chrNW_004624764:7,421,818...7,599,800
Ensembl chrNW_004624764:7,421,862...7,593,482
G
Ephb3
EPH receptor B3
ISO
RGD
PMID:25784101
RGD:127285023
NCBI chrNW_004624730:71,964,337...71,983,021
Ensembl chrNW_004624730:71,965,108...71,982,593
G
Ephb6
EPH receptor B6
ISO
RGD
PMID:25784101
RGD:127285023
NCBI chrNW_004624800:12,069,977...12,076,992
Ensembl chrNW_004624800:12,069,908...12,074,669
G
Fcgr2a
Fc fragment of IgG receptor IIa
susceptibility
ISO
ClinVar Annotator: match by term: Malaria, severe, susceptibility to
OMIM ClinVar
PMID:8636449 PMID:9843982 PMID:10675363 PMID:15367919 PMID:19915573 PMID:19965803 PMID:24033266 More...
NCBI chrNW_004624826:23,930...34,735
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 chrNW_004624826:97,605...112,101
G
Foxp3
forkhead box P3
disease_progression
ISO
RGD
PMID:16169501 PMID:19338000
RGD:38455985 RGD:38455992
NCBI chrNW_004624893:995,145...1,008,492
Ensembl chrNW_004624893:995,182...1,008,679
G
G6pd
glucose-6-phosphate dehydrogenase
severity susceptibility
ISO
DNA:point mutation:cds:c.968T>C (human) ClinVar Annotator: match by term: Malaria, susceptibility to DNA:SNPs: :multiple
RGD ClinVar OMIM
PMID:5448 PMID:16832 PMID:511159 PMID:736032 PMID:853376 PMID:1303173 PMID:1303182 PMID:1459579 PMID:1551674 PMID:1562739 PMID:1611091 PMID:1631957 PMID:1805484 PMID:1879833 PMID:1924316 PMID:1945893 PMID:1953767 PMID:1972698 PMID:1978554 PMID:1978555 PMID:2253938 PMID:2255919 PMID:2263506 PMID:2307454 PMID:2321910 PMID:2393028 PMID:2503817 PMID:2572288 PMID:2602358 PMID:2606066 PMID:2633878 PMID:2836867 PMID:2849540 PMID:2912069 PMID:3198117 PMID:3201886 PMID:3338798 PMID:3393536 PMID:3446582 PMID:3591235 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:5775246 PMID:5844610 PMID:6015571 PMID:6698555 PMID:6714978 PMID:6714986 PMID:6805883 PMID:7203486 PMID:7327562 PMID:7390473 PMID:7440223 PMID:7577654 PMID:7590755 PMID:7789945 PMID:7803800 PMID:7806085 PMID:7825590 PMID:7858267 PMID:7947239 PMID:7947250 PMID:7949118 PMID:7959686 PMID:8118045 PMID:8193373 PMID:8244337 PMID:8364584 PMID:8370579 PMID:8447319 PMID:8471773 PMID:8490627 PMID:8533762 PMID:8537082 PMID:8611726 PMID:8807321 PMID:8807322 PMID:8860013 PMID:8956035 PMID:9017974 PMID:9192788 PMID:9233561 PMID:9250351 PMID:9299858 PMID:9332310 PMID:9342374 PMID:9444913 PMID:9589612 PMID:9674740 PMID:9858856 PMID:10192449 PMID:10221015 PMID:10502785 PMID:10571945 PMID:10643148 PMID:10734064 PMID:10782016 PMID:10916676 PMID:11024211 PMID:11042039 PMID:11146567 PMID:11243133 PMID:11295127 PMID:11400791 PMID:11445808 PMID:11499668 PMID:11601226 PMID:11793482 PMID:11852882 PMID:12028056 PMID:12064920 PMID:12105841 PMID:12187030 PMID:12215013 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:15996881 PMID:16088936 PMID:16119988 PMID:16136268 PMID:16143877 PMID:16155737 PMID:16329560 PMID:16356170 PMID:16461316 PMID:16513531 PMID:16528451 PMID:16607506 PMID:16777444 PMID:16927025 PMID:17018380 PMID:17524386 PMID:17587269 PMID:17726510 PMID:17959407 PMID:18043863 PMID:18046504 PMID:18177777 PMID:18226470 PMID:18270558 PMID:18329300 PMID:18452027 PMID:18568599 PMID:18677765 PMID:19422023 PMID:19589177 PMID:19594365 PMID:19632868 PMID:20007901 PMID:20200584 PMID:20203002 PMID:20236109 PMID:20582980 PMID:20602793 PMID:20621077 PMID:21153663 PMID:21302115 PMID:21441392 PMID:21446359 PMID:21479984 PMID:21507207 PMID:21637675 PMID:21677401 PMID:21874587 PMID:21931771 PMID:21989994 PMID:22018328 PMID:22139979 PMID:22164279 PMID:22165289 PMID:22171972 PMID:22237549 PMID:22293322 PMID:22307442 PMID:22452742 PMID:22552160 PMID:22770933 PMID:22906047 PMID:22906837 PMID:22963789 PMID:22963798 PMID:23006493 PMID:23057857 PMID:23144702 PMID:23365477 PMID:23479361 PMID:23926329 PMID:23965028 PMID:24033266 PMID:24117340 PMID:24134566 PMID:24460025 PMID:24505519 PMID:24551785 PMID:24586352 PMID:24615128 PMID:25015414 PMID:25071003 PMID:25141282 PMID:25201310 PMID:25326637 PMID:25440321 PMID:25536053 PMID:25541721 PMID:25548459 PMID:25741868 PMID:25741914 PMID:25775246 PMID:26060661 PMID:26226515 PMID:26633385 PMID:26823837 PMID:26829728 PMID:26990548 PMID:27040960 PMID:27053284 PMID:27213370 PMID:27287612 PMID:27495838 PMID:27519946 PMID:27535533 PMID:27853304 PMID:27880809 PMID:27884173 PMID:27980749 PMID:28028996 PMID:28195434 PMID:28492532 PMID:28583873 PMID:28756180 PMID:28852037 PMID:29072585 PMID:29141760 PMID:29248304 PMID:29300386 PMID:29339739 PMID:30045279 PMID:30077011 PMID:30096395 PMID:30097005 PMID:30161219 PMID:30314477 PMID:30315739 PMID:30674319 PMID:31294066 PMID:31489982 PMID:31525211 PMID:31609781 PMID:31862010 PMID:31863082 PMID:32180910 PMID:32387609 PMID:32425388 PMID:32702756 PMID:32860008 PMID:33051526 PMID:33069889 PMID:33072997 PMID:33413378 PMID:33636823 PMID:34620237 PMID:34659341 PMID:34762759 PMID:34895177 PMID:34934109 PMID:34966093 PMID:35313968 PMID:35753512 PMID:35840819 PMID:36150187 PMID:36353116 PMID:36703223 PMID:36949502 More...
RGD:10449111 RGD:10449115
NCBI chrNW_004624946:989,376...1,001,787
Ensembl chrNW_004624946:986,107...1,001,955
G
Gypa
glycophorin A (MNS blood group)
ISO
OMIM
NCBI chrNW_004624853:3,132,961...3,158,461
G
Gypc
glycophorin C (Gerbich blood group)
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 chrNW_004624732:17,880,165...17,913,317
G
Hmox1
heme oxygenase 1
ISO
OMIM:609148 | OMIM:611162
MouseDO
NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887
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 chrNW_004624828:2,432,584...2,451,997
Ensembl chrNW_004624828:2,432,550...2,453,071
G
Ifng
interferon gamma
ISO
OMIM:609148 | OMIM:611162
MouseDO
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
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:6805883 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 chrNW_004624946:997,571...1,015,748
Ensembl chrNW_004624946:996,814...1,013,379
G
Il1rl1
interleukin 1 receptor like 1
ISO
RGD
PMID:28359899
RGD:39938859
NCBI chrNW_004624749:6,795,822...6,873,068
Ensembl chrNW_004624749:6,795,748...6,873,701
G
Il21
interleukin 21
exacerbates
ISO
RGD
PMID:25763578
RGD:127285358
NCBI chrNW_004624777:3,054,368...3,061,304
Ensembl chrNW_004624777:3,054,368...3,061,304
G
Il27
interleukin 27
ameliorates
ISO
RGD
PMID:24522137 PMID:26968425
RGD:11530371 RGD:126790512
NCBI chrNW_004624782:13,009,450...13,015,548
Ensembl chrNW_004624782:13,009,564...13,015,440
G
Il33
interleukin 33
ISO
protein:increased expression:serum:
RGD
PMID:28359899
RGD:39938859
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
G
Ltbr
lymphotoxin beta receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15788153
NCBI chrNW_004624860:3,152,041...3,158,690
Ensembl chrNW_004624860:3,152,517...3,162,848
G
Mapkapk3
MAPK activated protein kinase 3
ISO
ClinVar Annotator: match by term: Malaria, susceptibility to
ClinVar
PMID:20484391
NCBI chrNW_004624730:4,446,815...4,492,753
Ensembl chrNW_004624730:4,446,850...4,476,630
G
Mki67
marker of proliferation Ki-67
ISO
associated with Lung Neoplasms
RGD
PMID:21931708
RGD:6483517
NCBI chrNW_004624737:18,935,686...18,963,907
G
Ncr3
natural cytotoxicity triggering receptor 3
susceptibility
ISO
ClinVar Annotator: match by term: Malaria, severe, susceptibility to
OMIM ClinVar
PMID:17208487
NCBI chrNW_004624754:24,607,623...24,612,716
G
Nos2
nitric oxide synthase 2
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 chrNW_004624786:491,944...530,427
Ensembl chrNW_004624786:489,311...528,271
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 chrNW_004624885:2,261,850...2,272,175
Ensembl chrNW_004624885:2,264,928...2,272,171
G
Prf1
perforin 1
ISO
RGD
PMID:21525386
RGD:6482803
NCBI chrNW_004624754:4,679,451...4,681,627
Ensembl chrNW_004624754:4,679,521...4,681,627
G
Procr
protein C receptor
disease_progression
ISO
RGD
PMID:27671831
RGD:126848795
NCBI chrNW_004624842:4,187,635...4,231,277
Ensembl chrNW_004624842:4,226,900...4,231,264
G
Slc19a1
solute carrier family 19 member 1
ISO
DNA:SNP::g.80G>A (human)
RGD
PMID:27198213
RGD:40903062
NCBI chrNW_004624745:30,793,114...30,811,944
Ensembl chrNW_004624745:30,794,024...30,811,944
G
Slc4a1
solute carrier family 4 member 1 (Diego blood group)
ISO
ClinVar Annotator: match by term: Malaria, cerebral, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to
ClinVar
PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:6338046 PMID:7689982 PMID:7919393 PMID:7949112 PMID:8434259 PMID:8704215 PMID:8943874 PMID:9207478 PMID:9312167 PMID:9600966 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:34746046 PMID:35738466 More...
NCBI chrNW_004624795:739,821...752,773
Ensembl chrNW_004624795:743,646...752,103
G
Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:16552072
RGD:1581333
NCBI chrNW_004624872:4,505,796...4,513,247
Ensembl chrNW_004624872:4,505,522...4,513,742
G
Tbx21
T-box transcription factor 21
ISO
RGD
PMID:19338000
RGD:38455985
NCBI chrNW_004624795:4,442,188...4,453,544
Ensembl chrNW_004624795:4,442,188...4,453,143
G
Tirap
TIR domain containing adaptor protein
ISO
ClinVar Annotator: match by term: Malaria, resistance to
OMIM ClinVar
PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868
NCBI chrNW_004624812:433,540...445,517
Ensembl chrNW_004624812:439,319...446,646
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 chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
G
Fcgr3a
Fc fragment of IgG receptor IIIa
susceptibility severity
ISO
DNA:polymorphism: :p.F176V (human)
RGD
PMID:20231419 PMID:23045477
RGD:11040771 RGD:11344971
NCBI chrNW_004624826:51,387...59,117
G
Slc4a1
solute carrier family 4 member 1 (Diego blood group)
severity
ISO
DNA:snp:promoter:g.-5699T>C (human)
RGD
PMID:16960783
RGD:10450507
NCBI chrNW_004624795:739,821...752,773
Ensembl chrNW_004624795:743,646...752,103
G
Tlr2
toll like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29253318
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7854095
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
G
Lta
lymphotoxin alpha
ISO
DNA:polymorphism:intron
RGD
PMID:7595196
RGD:8548799
NCBI chrNW_004624754:24,626,930...24,628,412
Ensembl chrNW_004624754:24,627,318...24,628,182
G
Tnf
tumor necrosis factor
ISO
DNA:SNP:promoter:-308G>A (human)
RGD
PMID:7595196
RGD:8548799
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
G
Il1rl1
interleukin 1 receptor like 1
severity
ISO
RGD
PMID:27697499
RGD:40400689
NCBI chrNW_004624749:6,795,822...6,873,068
Ensembl chrNW_004624749:6,795,748...6,873,701
G
Il33
interleukin 33
ISO
associated with Nippostrongylus brasiliensis infection; mRNA:increased expression:lung
RGD
PMID:22331917
RGD:40400742
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
G
Il4
interleukin 4
ISO
mRNA:increased expression:spleen
RGD
PMID:17570971
RGD:2317296
NCBI chrNW_004624733:39,412,800...39,420,079
G
LOC101707509
cytochrome P450 1A1
ISO
protein:increased expression:liver (rat)
RGD
PMID:12621079
RGD:2306675
NCBI chrNW_004627988:7...1,323
G
Muc13
mucin 13, cell surface associated
ISO
protein:increased expression:cecum, glycocalyx
RGD
PMID:21155842
RGD:7364766
NCBI chrNW_004624731:943,067...955,989
G
Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
mRNA:increased expression:intestine
RGD
PMID:16689826 PMID:20138044
RGD:2303607 RGD:7349349
NCBI chrNW_004624766:21,493,125...21,522,535
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 chrNW_004624730:61,153,753...61,176,859
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
resistance
ISO
mRNA:increased expression:cecum
RGD
PMID:20138044 PMID:22269441
RGD:7349349 RGD:7364747
NCBI chrNW_004624766:21,439,023...21,461,108
G
Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
susceptibility
ISO
RGD
PMID:11850627
RGD:737789
NCBI chrNW_004624815:1,290,106...1,376,961
Ensembl chrNW_004624815:1,289,997...1,369,610
G
Tnfrsf1a
TNF receptor superfamily member 1A
ISO
mRNA:increased expression:liver (rat)
RGD
PMID:20695884
RGD:5130965
NCBI chrNW_004624860:3,111,244...3,123,041
Ensembl chrNW_004624860:3,111,630...3,122,711
G
Il1r1
interleukin 1 receptor type 1
ISO
RGD
PMID:19168746
RGD:8662882
NCBI chrNW_004624749:6,661,142...6,737,988
Ensembl chrNW_004624749:6,708,522...6,739,871
G
Tlr4
toll like receptor 4
ISO
RGD
PMID:11884755
RGD:7794682
NCBI chrNW_004624760:17,596,516...17,608,955
Ensembl chrNW_004624760:17,598,630...17,609,120
G
Anxa1
annexin A1
ISO
RGD
PMID:22740770
RGD:7421536
NCBI chrNW_004624811:765,338...782,203
Ensembl chrNW_004624811:764,940...782,198
G
Il10
interleukin 10
ISO
RGD
PMID:19026704
RGD:7365028
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
G
Il17a
interleukin 17A
treatment
ISO
protein:increased expression:aqueous humor (human)
RGD
PMID:22927448
RGD:8698652
NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136
G
Il27
interleukin 27
disease_progression
ISO
mRNA:increased expression:eye, cervical lymph node (mouse)
RGD
PMID:29779048
RGD:126790500
NCBI chrNW_004624782:13,009,450...13,015,548
Ensembl chrNW_004624782:13,009,564...13,015,440
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 chrNW_004624757:5,956,873...6,000,052
Ensembl chrNW_004624757:5,958,486...6,000,103
G
Il13
interleukin 13
severity
ISO
protein:increased expression:serum
RGD
PMID:22805723
RGD:8549600
NCBI chrNW_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843
G
LOC101698463
HLA class II histocompatibility antigen, DP alpha 1 chain
ISO
RGD
PMID:8854084
RGD:6480649
NCBI chrNW_004624754:23,674,935...23,683,044
Ensembl chrNW_004624754:23,674,448...23,683,662
G
Actr3
actin related protein 3
ISO
RGD
PMID:25809205
RGD:11570559
NCBI chrNW_004624732:31,360,804...31,427,885
Ensembl chrNW_004624732:31,361,147...31,427,811
G
Cebpb
CCAAT enhancer binding protein beta
susceptibility
ISO
RGD
PMID:26317211
RGD:11079756
NCBI chrNW_004624790:5,367,808...5,369,686
Ensembl chrNW_004624790:5,368,349...5,369,377
G
Il23a
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:19204111
RGD:39457957
NCBI chrNW_004624802:11,662,851...11,664,444
Ensembl chrNW_004624802:11,662,753...11,665,418
G
Ltf
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chrNW_004624730:74,636,554...74,656,817
Ensembl chrNW_004624730:74,636,522...74,656,886
G
Zc3h12a
zinc finger CCCH-type containing 12A
ISO
RGD
PMID:26320658
RGD:11534569
NCBI chrNW_004624764:20,224,919...20,234,108
Ensembl chrNW_004624764:20,224,906...20,234,629
G
Il2rb
interleukin 2 receptor subunit beta
ameliorates
ISO
RGD
PMID:21301182
RGD:42724469
NCBI chrNW_004624752:10,662,053...10,682,891
Ensembl chrNW_004624752:10,672,432...10,683,045
G
Il33
interleukin 33
treatment
ISO
RGD
PMID:25912172
RGD:39939026
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
G
Il5
interleukin 5
ISO
RGD
PMID:15534922
RGD:11354941
NCBI chrNW_004624733:39,544,487...39,558,943
Ensembl chrNW_004624733:39,556,797...39,559,119
G
Gnas
GNAS complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chrNW_004624741:25,138,678...25,197,194
Ensembl chrNW_004624741:25,183,329...25,196,880
G
Kmt2c
lysine methyltransferase 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chrNW_004624800:4,510,669...4,785,909
Ensembl chrNW_004624800:4,511,549...4,784,053
G
Kras
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
G
Peg3
paternally expressed 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chrNW_004624832:1,194,472...1,223,382
Ensembl chrNW_004624832:1,210,070...1,223,456
G
Rnf43
ring finger protein 43
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chrNW_004624871:191,534...259,134
Ensembl chrNW_004624871:191,546...259,120
G
Robo2
roundabout guidance receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chrNW_004624745:800,963...2,121,445
Ensembl chrNW_004624745:804,797...1,390,551
G
Smad4
SMAD family member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chrNW_004624778:14,570,025...14,629,950
Ensembl chrNW_004624778:14,570,348...14,630,325
G
Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chrNW_004624786:10,266,316...10,282,664
Ensembl chrNW_004624786:10,263,518...10,271,218
G
Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif 13
ISO
protein:decreased activity:plasma (human)
RGD
PMID:20062916
RGD:10449041
NCBI chrNW_004624760:1,865,474...1,889,394
Ensembl chrNW_004624760:1,865,376...1,889,203
G
Bsg
basigin (Ok blood group)
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22080952 PMID:26195724
NCBI chrNW_004624828:7,913,297...7,920,891
Ensembl chrNW_004624828:7,913,099...7,920,804
G
Cast
calpastatin
ISO
protein:alter localization:erythrocyte
RGD
PMID:17359359
RGD:5509812
NCBI chrNW_004624743:15,265,930...15,405,904
Ensembl chrNW_004624743:15,346,837...15,403,150
G
Clec11a
C-type lectin domain containing 11A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19884328
NCBI chrNW_004624832:3,929,949...3,934,088
Ensembl chrNW_004624832:3,929,949...3,932,370
G
Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21625619
NCBI chrNW_004624791:15,290,022...15,315,848
Ensembl chrNW_004624791:15,289,348...15,315,848
G
Fcgr2a
Fc fragment of IgG receptor IIa
severity
ISO
DNA:missense mutation:cds:p.R131H (rs1801274) (human)
RGD
PMID:18194515
RGD:5147927
NCBI chrNW_004624826:23,930...34,735
G
G6pd
glucose-6-phosphate dehydrogenase
severity
ISO
DNA:missense mutation:cds:202G>A (p.V68M) (human)
RGD
PMID:24943486
RGD:10449113
NCBI chrNW_004624946:989,376...1,001,787
Ensembl chrNW_004624946:986,107...1,001,955
G
Il13
interleukin 13
ISO
protein:increased expression:plasma
RGD
PMID:21985368
RGD:5684362
NCBI chrNW_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843
G
LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*0501 (human)
RGD
PMID:11076705
RGD:11041780
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:haplotype:exon:
RGD
PMID:18396436
RGD:11530064
NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
G
Tnf
tumor necrosis factor
severity
ISO
protein:increased expression:plasma
RGD
PMID:1984482
RGD:10450571
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
G
Ackr1
atypical chemokine receptor 1 (Duffy blood group)
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 chrNW_004624794:2,055,917...2,124,815
Ensembl chrNW_004624794:2,120,786...2,122,232
G
Azin1
antizyme inhibitor 1
ISO
mRNA:increased expression:alveolar macrophage
RGD
PMID:19158080
RGD:14700806
NCBI chrNW_004624763:19,643,980...19,667,125
Ensembl chrNW_004624763:19,643,980...19,667,125
G
C3
complement C3
ISO
RGD
PMID:17169032
RGD:5129525
NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946
G
Cd40
CD40 molecule
treatment
ISO
RGD
PMID:10968950
RGD:8547797
NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
G
Csf2
colony stimulating factor 2
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:19487471
RGD:5131475
NCBI chrNW_004624733:40,039,127...40,041,294
Ensembl chrNW_004624733:40,039,414...40,041,294
G
Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:17403873
RGD:39458043
NCBI chrNW_004624802:11,662,851...11,664,444
Ensembl chrNW_004624802:11,662,753...11,665,418
G
Il33
interleukin 33
treatment
ISO
RGD
PMID:21220696
RGD:40400892
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
G
LOC101703821
HLA class II histocompatibility antigen, DQ beta 1 chain
ISO
RGD
PMID:20377877
RGD:4144112
NCBI chrNW_004624754:23,895,509...23,902,487
Ensembl chrNW_004624754:23,895,607...23,906,713
G
Muc1
mucin 1, cell surface associated
ISO
protein:increased expression:serum
RGD
PMID:9617869
RGD:5131424
NCBI chrNW_004624885:2,339,281...2,343,351
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 chrNW_004624786:491,944...530,427
Ensembl chrNW_004624786:489,311...528,271
G
Sftpb
surfactant protein B
ISO
protein:decreased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chrNW_004624749:17,486,483...17,495,822
Ensembl chrNW_004624749:17,486,518...17,493,846
G
Sftpc
surfactant protein C
ISO
protein:decreased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chrNW_004624758:17,742,439...17,744,664
Ensembl chrNW_004624758:17,742,415...17,744,655
G
Sftpd
surfactant protein D
ISO
protein:increased expression:lung
RGD
PMID:11385364
RGD:4143431
NCBI chrNW_004624841:6,917,067...6,938,594
Ensembl chrNW_004624841:6,916,849...6,936,077
G
Tlr2
toll like receptor 2
ISO
RGD
PMID:18400546
RGD:4145341
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
G
Il10
interleukin 10
ISO
RGD
PMID:24717969
RGD:11041890
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
G
Ptx3
pentraxin 3
ISO
protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
RGD
PMID:29964232
RGD:38508894
NCBI chrNW_004624730:35,125,536...35,131,645
Ensembl chrNW_004624730:35,125,605...35,131,367
G
Cat
catalase
treatment
ISO
RGD
PMID:17884035
RGD:9479747
NCBI chrNW_004624767:12,680,940...12,715,468
Ensembl chrNW_004624767:12,680,953...12,715,739
G
Ager
advanced glycosylation end-product specific receptor
ISO
protein:decreased expression:lung (mouse)
RGD
PMID:23369670
RGD:7243187
NCBI chrNW_004624754:24,138,086...24,140,900
G
Bud31
BUD31 homolog
ISO
Protein:increased expression:serum (human)
RGD
PMID:22686541
RGD:10058982
NCBI chrNW_004624740:32,833,010...32,841,018
Ensembl chrNW_004624740:32,833,370...32,841,018
G
Il33
interleukin 33
ISO
mRNA,protein:increased expression:liver
RGD
PMID:29554131
RGD:39938854
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
G
Prdx1
peroxiredoxin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19041905
NCBI chrNW_004624906:1,405,253...1,414,980
Ensembl chrNW_004624906:1,405,253...1,414,926
G
Rassf1
Ras association domain family member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23527093
NCBI chrNW_004624730:4,181,207...4,190,603
Ensembl chrNW_004624730:4,181,462...4,190,431
G
Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:32404867
RGD:39128195
NCBI chrNW_004624743:32,277,197...32,283,346
Ensembl chrNW_004624743:32,273,385...32,283,235
G
Timp3
TIMP metallopeptidase inhibitor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23527093
NCBI chrNW_004624750:1,776,197...1,817,279
Ensembl chrNW_004624750:1,775,744...1,817,385
G
Il18
interleukin 18
treatment
ISO
RGD
PMID:19467215
RGD:14696662
NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687
G
Il33
interleukin 33
severity treatment
ISO
protein:increased expression:serum
RGD
PMID:22590860 PMID:25944738
RGD:39939027 RGD:40400890
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
G
Pdcd1
programmed cell death 1
severity
ISO
protein:increased expression:CD4 T cell
RGD
PMID:27792733
RGD:40818413
NCBI chrNW_004624847:5,732,922...5,741,908
Ensembl chrNW_004624847:5,732,767...5,742,269
G
Serpinh1
serpin family H member 1
ISO
mRNA,protein:increased expression:liver, serum (mouse)
RGD
PMID:31612672
RGD:41412161
NCBI chrNW_004624817:1,561,471...1,570,425
Ensembl chrNW_004624817:1,561,471...1,570,947
G
Aldh1a2
aldehyde dehydrogenase 1 family member A2
ISO
mRNA:increased expression:macrophage
RGD
PMID:22927819
RGD:14367882
NCBI chrNW_004624781:13,756,469...13,845,253
Ensembl chrNW_004624781:13,756,390...13,845,479
G
Cd40
CD40 molecule
treatment
ISO
RGD
PMID:10623823
RGD:11520789
NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
G
Cd86
CD86 molecule
ISO
protein:increased expression:peripheral blood, eosinophil (human)
RGD
PMID:17308795
RGD:11354987
NCBI chrNW_004624912:350,201...432,410
Ensembl chrNW_004624912:350,157...426,712
G
Ihh
Indian hedgehog signaling molecule
ISO
RGD
PMID:23121638
RGD:12910981
NCBI chrNW_004624823:5,959,329...5,965,584
Ensembl chrNW_004624823:5,959,448...5,964,769
G
Il13
interleukin 13
treatment
ISO
RGD
PMID:10903803
RGD:8549615
NCBI chrNW_004624733:39,427,189...39,430,019
Ensembl chrNW_004624733:39,428,095...39,429,843
G
Map3k8
mitogen-activated protein kinase kinase kinase 8
exacerbates
ISO
RGD
PMID:27487182
RGD:151356963
NCBI chrNW_004624805:2,611,297...2,633,650
Ensembl chrNW_004624805:2,611,038...2,633,943
G
Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9673227
NCBI chrNW_004624786:491,944...530,427
Ensembl chrNW_004624786:489,311...528,271
G
Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16564582
NCBI chrNW_004624745:20,032,003...20,037,958
Ensembl chrNW_004624745:20,032,011...20,037,958
G
Nos2
nitric oxide synthase 2
ISO
protein:altered activity:brain, peritoneal macrophage
RGD
PMID:20169057
RGD:4891375
NCBI chrNW_004624786:491,944...530,427
Ensembl chrNW_004624786:489,311...528,271
G
Aicda
activation induced cytidine deaminase
ISO
RGD
PMID:23630966
RGD:32716404
NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634
G
Il33
interleukin 33
ISO
mRNA:increased expression:lung
RGD
PMID:22331917
RGD:40400742
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
G
Plau
plasminogen activator, urokinase
ISO
RGD
PMID:18022622
RGD:6484141
NCBI chrNW_004624754:7,405,637...7,415,870
Ensembl chrNW_004624754:7,408,983...7,416,559
G
Il18
interleukin 18
treatment
ISO
RGD
PMID:16129701
RGD:8655932
NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687
G
Il5
interleukin 5
severity
ISO
RGD
PMID:9824515
RGD:11354934
NCBI chrNW_004624733:39,544,487...39,558,943
Ensembl chrNW_004624733:39,556,797...39,559,119
G
Il33
interleukin 33
ISO
influenza and Pneumonia, Staphylococcal
RGD
PMID:28401938
RGD:40400699
NCBI chrNW_004624736:10,733,944...10,786,188
Ensembl chrNW_004624736:10,764,486...10,784,864
G
Mpo
myeloperoxidase
severity
ISO
RGD
PMID:12085336
RGD:40903072
NCBI chrNW_004624871:121,026...131,433
Ensembl chrNW_004624871:121,026...131,323
G
Tnf
tumor necrosis factor
ISO
mRNA, protein:increased expression:spleen, plasma
RGD
PMID:11562071
RGD:10449457
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
G
Il1a
interleukin 1 alpha
ISO
RGD
PMID:7835923
RGD:7794724
NCBI chrNW_004624749:12,795,967...12,805,658
Ensembl chrNW_004624749:12,795,946...12,805,154
G
Rapgef3
Rap guanine nucleotide exchange factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24218580
NCBI chrNW_004624816:4,496,848...4,519,782
Ensembl chrNW_004624816:4,496,856...4,519,911
G
Cd40
CD40 molecule
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338
G
Il4
interleukin 4
treatment
ISO
RGD
PMID:26732352
RGD:11534298
NCBI chrNW_004624733:39,412,800...39,420,079
G
Olig2
oligodendrocyte transcription factor 2
ISO
RGD
PMID:25773181
RGD:40902825
NCBI chrNW_004624745:21,270,804...21,274,225
Ensembl chrNW_004624745:21,270,965...21,272,932
G
Bax
BCL2 associated X, apoptosis regulator
ISO
RGD
PMID:24812878
RGD:10054127
NCBI chrNW_004624832:5,050,222...5,068,565
Ensembl chrNW_004624832:5,050,222...5,055,506
G
Il27
interleukin 27
susceptibility
ISO
RGD
PMID:22981537 PMID:31548322
RGD:126790501 RGD:126790522
NCBI chrNW_004624782:13,009,450...13,015,548
Ensembl chrNW_004624782:13,009,564...13,015,440
G
Nfkbia
NFKB inhibitor alpha
exacerbates
ISO
human gene in a mouse model
RGD
PMID:12626571
RGD:126925984
NCBI chrNW_004624838:1,384,337...1,387,602
Ensembl chrNW_004624838:1,384,204...1,390,205
G
Ucp2
uncoupling protein 2
susceptibility
ISO
RGD
PMID:11101840
RGD:737759
NCBI chrNW_004624817:3,067,358...3,075,045
Ensembl chrNW_004624817:3,067,320...3,075,043
G
Il10
interleukin 10
ISO
RGD
PMID:23465441
RGD:11049476
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
G
Lta
lymphotoxin alpha
ISO
RGD
PMID:19564380
RGD:8548805
NCBI chrNW_004624754:24,626,930...24,628,412
Ensembl chrNW_004624754:24,627,318...24,628,182
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 chrNW_004624750:7,345,411...7,396,445
Ensembl chrNW_004624750:7,345,557...7,396,154
G
Slc6a4
solute carrier family 6 member 4
ISO
protein:decreased expression:jejunum (mouse)
RGD
PMID:16336502
RGD:38676482
NCBI chrNW_004624786:2,673,285...2,711,432
Ensembl chrNW_004624786:2,672,552...2,710,914
G
Tnf
tumor necrosis factor
ISO
RGD
PMID:19564380
RGD:8548805
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
G
Foxp1
forkhead box P1
ISO
mRNA:increased expression:duodenum (rat)
RGD
PMID:21698235
RGD:11561920
NCBI chrNW_004624773:5,543,529...6,076,522
Ensembl chrNW_004624773:5,543,536...5,883,131
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20864659
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
G
Mpo
myeloperoxidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20864659
NCBI chrNW_004624871:121,026...131,433
Ensembl chrNW_004624871:121,026...131,323
G
Ada
adenosine deaminase
ISO
RGD
PMID:20809996
RGD:5128861
NCBI chrNW_004624790:9,809,550...9,829,199
Ensembl chrNW_004624790:9,809,492...9,829,883
G
Bche
butyrylcholinesterase
ISO
protein:decreased expression:plasma
RGD
PMID:20138875
RGD:5687328
NCBI chrNW_004624730:43,793,550...43,849,169
Ensembl chrNW_004624730:43,793,040...43,843,519
G
Cxcl8
C-X-C motif chemokine ligand 8
disease_progression
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:25375156
RGD:150521552
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
G
Il4
interleukin 4
treatment
ISO
RGD
PMID:24731531
RGD:10402804
NCBI chrNW_004624733:39,412,800...39,420,079
G
Prf1
perforin 1
ISO
RGD
PMID:19651871
RGD:6482814
NCBI chrNW_004624754:4,679,451...4,681,627
Ensembl chrNW_004624754:4,679,521...4,681,627
G
Ctla4
cytotoxic T-lymphocyte associated protein 4
susceptibility
ISO
DNA:SNPs:multiple:Gabonese(human)
RGD
PMID:22288822
RGD:7204674
NCBI chrNW_004624765:12,449,205...12,454,324
Ensembl chrNW_004624765:12,449,205...12,454,324
G
Il5
interleukin 5
resistance
ISO
RGD
PMID:9697734
RGD:7241010
NCBI chrNW_004624733:39,544,487...39,558,943
Ensembl chrNW_004624733:39,556,797...39,559,119
G
Stat6
signal transducer and activator of transcription 6
severity
ISO
DNA:SNP:enhancer: (rs324013)
RGD
PMID:18273035
RGD:7243977
NCBI chrNW_004624802:10,809,234...10,847,762
Ensembl chrNW_004624802:10,809,252...10,846,693
G
Aicda
activation induced cytidine deaminase
ISO
RGD
PMID:31001826
RGD:32716386
NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634
G
Ccr3
C-C motif chemokine receptor 3
ISO
protein:increased expression:blood, T cell
RGD
PMID:15379987
RGD:6893393
NCBI chrNW_004624730:74,768,668...74,769,749
Ensembl chrNW_004624730:74,768,668...74,769,798
G
Cd163
CD163 molecule
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:28355218
RGD:127345133
NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349
G
Cd40
CD40 molecule
treatment
ISO
RGD
PMID:14573667
RGD:8547750
NCBI chrNW_004624790:8,475,640...8,485,927
Ensembl chrNW_004624790:8,476,158...8,485,856
G
Cd40lg
CD40 ligand
ISO
RGD
PMID:14573667
RGD:8547750
NCBI chrNW_004624808:10,472,028...10,484,407
Ensembl chrNW_004624808:10,472,572...10,484,338
G
Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10467834
NCBI chrNW_004624794:1,531,555...1,533,804
Ensembl chrNW_004624794:1,531,571...1,533,804
G
Csf2
colony stimulating factor 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:8035028 PMID:17404324
RGD:10449527
NCBI chrNW_004624733:40,039,127...40,041,294
Ensembl chrNW_004624733:40,039,414...40,041,294
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
mRNA:increased expression:liver
RGD
PMID:16239557
RGD:27095947
NCBI chrNW_004624757:14,989,241...14,991,650
Ensembl chrNW_004624757:14,989,084...14,991,910
G
Cxcl8
C-X-C motif chemokine ligand 8
susceptibility treatment
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:promoter:g.-251A>T (human)
CTD RGD
PMID:22461696 PMID:25821028 PMID:32984951
RGD:150523789 RGD:150523791
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
G
Hmox1
heme oxygenase 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:22461696 PMID:23729024
RGD:42724459
NCBI chrNW_004624750:341,699...346,005
Ensembl chrNW_004624750:342,146...345,887
G
Ifng
interferon gamma
treatment
ISO
CTD Direct Evidence: therapeutic
RGD CTD
PMID:1901333 PMID:3104456 PMID:7854095 PMID:27999013
RGD:40890273 RGD:8158041
NCBI chrNW_004624802:163,261...166,534
Ensembl chrNW_004624802:163,261...166,534
G
Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15716043 PMID:17404324 PMID:22461696 PMID:29745990
RGD:14975172
NCBI chrNW_004624807:4,687,249...4,691,658
Ensembl chrNW_004624807:4,687,176...4,691,732
G
Il10ra
interleukin 10 receptor subunit alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15716043
NCBI chrNW_004624784:13,386,793...13,399,871
Ensembl chrNW_004624784:13,386,965...13,403,014
G
Il18
interleukin 18
susceptibility
ISO
RGD
PMID:16879623
RGD:8655922
NCBI chrNW_004624784:7,294,286...7,312,959
Ensembl chrNW_004624784:7,294,183...7,304,687
G
Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17404324
NCBI chrNW_004624749:12,852,128...12,858,478
Ensembl chrNW_004624749:12,852,021...12,858,760
G
Il27
interleukin 27
ISO
mRNA, protein:increased expression:spleen, liver (mouse)
RGD
PMID:27245409
RGD:126790520
NCBI chrNW_004624782:13,009,450...13,015,548
Ensembl chrNW_004624782:13,009,564...13,015,440
G
Il2rb
interleukin 2 receptor subunit beta
susceptibility
ISO
DNA:polymorphisms:exon:8777, 8838(human)
RGD
PMID:17108990
RGD:42724466
NCBI chrNW_004624752:10,662,053...10,682,891
Ensembl chrNW_004624752:10,672,432...10,683,045
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7554475 PMID:17404324 PMID:22461696
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
G
Irf5
interferon regulatory factor 5
ISO
protein:increased expression:CD4 T cell, nucleus
RGD
PMID:30067973 PMID:32038622
RGD:40924560 RGD:40924629
NCBI chrNW_004624783:7,267,680...7,275,918
Ensembl chrNW_004624783:7,260,005...7,274,433
G
Lta
lymphotoxin alpha
severity
ISO
DNA:polymorphisms
RGD
PMID:12438370 PMID:15579454
RGD:8548784 RGD:8548789
NCBI chrNW_004624754:24,626,930...24,628,412
Ensembl chrNW_004624754:24,627,318...24,628,182
G
Ltb
lymphotoxin beta
ISO
RGD
PMID:12115620
RGD:8548822
NCBI chrNW_004624754:24,618,888...24,620,448
G
Mbl2
mannose binding lectin 2
disease_progression susceptibility
ISO
DNA:polymorphism:promoter: protein:increased expression:serum: DNA:SNPs,haplotype:promoter,exon:
RGD
PMID:17357060 PMID:22995279 PMID:26297290
RGD:11522692 RGD:8693721 RGD:8693726
NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
G
Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
ISO
RGD
PMID:23729024
RGD:42724459
NCBI chrNW_004624787:14,355,330...14,381,353
Ensembl chrNW_004624787:14,355,791...14,381,251
G
Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
treatment
ISO
RGD
PMID:27999013
RGD:40890273
NCBI chrNW_004624818:2,751,724...2,789,145
Ensembl chrNW_004624818:2,751,724...2,779,999
G
Slc11a1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16597321 PMID:17067929
RGD:5684944
NCBI chrNW_004624823:6,612,452...6,625,047
Ensembl chrNW_004624823:6,612,452...6,625,300
G
Stat4
signal transducer and activator of transcription 4
ISO
RGD
PMID:24242758
RGD:8661696
NCBI chrNW_004624854:4,975,724...5,056,940
Ensembl chrNW_004624854:4,976,507...5,057,391
G
Tlr2
toll like receptor 2
disease_progression
ISO
RGD
PMID:23589575
RGD:15090808
NCBI chrNW_004624858:4,931,820...4,984,175
Ensembl chrNW_004624858:4,979,485...4,981,833
G
Tnf
tumor necrosis factor
severity
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphisms
CTD RGD
PMID:1901333 PMID:12438370 PMID:15579454 PMID:22461696
RGD:8548784 RGD:8548789
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
G
Cxcl8
C-X-C motif chemokine ligand 8
ISO
associated with human immunodeficiency virus infectious disease;protein:increased expression:vaginal fluid (human)
RGD
PMID:18243333
RGD:150523783
NCBI chrNW_004624730:1,744,097...1,747,206
Ensembl chrNW_004624730:1,743,916...1,747,293
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:23853597
RGD:39938863
NCBI chrNW_004624780:3,684,941...3,697,506
Ensembl chrNW_004624780:3,685,069...3,697,474
G
Ltf
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16640825
NCBI chrNW_004624730:74,636,554...74,656,817
Ensembl chrNW_004624730:74,636,522...74,656,886
G
Mbl2
mannose binding lectin 2
ISO
DNA:SNP:cds:
RGD
PMID:17470593
RGD:8693700
NCBI chrNW_004624791:10,881,319...10,886,294
Ensembl chrNW_004624791:10,881,268...10,886,297
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all