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: Gram-Negative Bacterial Infections
Accession: DOID:9008945
browse the term
Definition: Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method.
Synonyms: exact_synonym: Gram-Negative Bacterial Infection
xref: MESH:D016905 ; MONDO:0021678
G
Amer1
APC membrane recruitment protein 1
ISO
associated with colorectal cancer;DNA:mutation:multiple (human)
RGD
PMID:30062471
RGD:151665182
NCBI chr X:60,300,595...60,316,480
Ensembl chr X:60,295,751...60,316,440
G
Gclc
glutamate-cysteine ligase, catalytic subunit
susceptibility
ISO
associated with Cystic Fibrosis;DNA:SNP,haplotype:promoter:-129C >T,-3506A >G (human)
RGD
PMID:24593045
RGD:10401929
NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
G
Il17a
interleukin 17A
susceptibility
ISO
Moraxellaceae Infections; associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human)
RGD
PMID:20437253
RGD:4889139
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il1b
interleukin 1 beta
ISO
protein:increased expression:lung (mouse)
RGD
PMID:20308302
RGD:4142825
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Rnase3
ribonuclease A family member 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21696142
NCBI chr15:24,511,894...24,512,764
Ensembl chr15:24,511,891...24,512,790
G
Slc6a4
solute carrier family 6 member 4
ISO
protein:decreased expression:colon (mouse)
RGD
PMID:16548890
RGD:38676481
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
G
Ugt1a1
UDP glucuronosyltransferase family 1 member A1
ISO
mRNA:decreased expression:liver
RGD
PMID:16339353
RGD:6482852
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
G
Cd163
CD163 molecule
ISO
protein:increased expression:lung (pig)
RGD
PMID:33287430
RGD:127345134
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
G
Defb1
defensin beta 1
IEP
mRNA:increased expression:gingival epithelium
RGD
PMID:17076783
RGD:4892269
NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
G
Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:decreased expression:serum (human)
RGD
PMID:25539588
RGD:11541121
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
G
Cxcl2
C-X-C motif chemokine ligand 2
ISO
associated with Influenza
RGD
PMID:20065113
RGD:5134984
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
G
C3
complement C3
ISO
protein:increased expression:serum
RGD
PMID:3361150
RGD:11041575
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
G
Cfb
complement factor B
ISO
protein:increased expression:serum
RGD
PMID:3361150
RGD:11041575
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
G
Cxcl10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:14507644
RGD:5135450
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:14507644
RGD:5135450
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
G
Cd163
CD163 molecule
treatment
ISO
RGD
PMID:32069255
RGD:149735531
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
G
Ifng
interferon gamma
treatment
ISO
RGD
PMID:27916101
RGD:14974260
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Npc1
NPC intracellular cholesterol transporter 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12183525
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
G
Pde4a
phosphodiesterase 4A
IEP
mRNA:decreased expression:spleen
RGD
PMID:17397885
RGD:2302429
NCBI chr 8:19,690,816...19,753,538
Ensembl chr 8:19,703,290...19,751,961
G
Prdx5
peroxiredoxin 5
ISO
mRNA:increased expression:spleen (mouse)
RGD
PMID:31196623
RGD:41404681
NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268
G
Sting1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29203515 PMID:30894428
RGD:39128199 , RGD:39128234
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
G
Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:27322540 PMID:27385977
RGD:39457954 , RGD:39458040
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
G
Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
treatment
ISO
RGD
PMID:23180818
RGD:38599193
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
G
Slc11a1
solute carrier family 11 member 1
ISO
RGD
PMID:18656410
RGD:5684976
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
G
Ccr5
C-C motif chemokine receptor 5
ISO
RGD
PMID:16118671
RGD:8549760
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Cd40
CD40 molecule
ISO
RGD
PMID:20102413
RGD:5132268
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
G
Foxp3
forkhead box P3
treatment
ISO
RGD
PMID:30832593
RGD:38455984
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
G
Icam1
intercellular adhesion molecule 1
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:19728926
RGD:4145507
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
G
Ido1
indoleamine 2,3-dioxygenase 1
treatment
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:30832593 PMID:31249813
RGD:38455984 , RGD:39938856
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19203382
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Il13
interleukin 13
ISO
RGD
PMID:21573182
RGD:5684365
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
G
Il17a
interleukin 17A
ISO
associated with Bronchial Hyprractivity; mRNA:increased expression:lung
RGD
PMID:20228193 PMID:19812198
RGD:4888528 , RGD:4889101
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Mir21
microRNA 21
ISO
associated with asthma;RNA:increased expression:lung
RGD
PMID:27448447
RGD:41404696
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
G
Tgfb1
transforming growth factor, beta 1
treatment
ISO
RGD
PMID:30832593
RGD:38455984
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19203382
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Cd274
CD274 molecule
ISO
mRNA:increased expression:lung
RGD
PMID:26378990
RGD:41412180
NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450
G
Pdcd1
programmed cell death 1
ISO
mRNA:increased expression:lung
RGD
PMID:26378990
RGD:41412180
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
G
Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
severity
ISO
RGD
PMID:29893841
RGD:40890270
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
G
Cd1d1
CD1d1 molecule
ISO
RGD
PMID:23999314
RGD:127345116
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
G
Plac8
placenta associated 8
severity exacerbates
ISO
RGD
PMID:22238459 PMID:22238459
RGD:40925930 , RGD:40925930
NCBI chr14:9,052,601...9,074,264
Ensembl chr14:9,063,048...9,074,264
G
Pten
phosphatase and tensin homolog
ISO
associated with Experimental Allergic Asthma;mRNA:decreased expression:lung (mouse)
RGD
PMID:27448447
RGD:41404696
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
G
Hdc
histidine decarboxylase
ISO
RGD
PMID:14556983
RGD:5143922
NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341
G
Lcn2
lipocalin 2
exacerbates
ISO
RGD
PMID:23317919
RGD:126781720
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
G
Mmp14
matrix metallopeptidase 14
IEP
RGD
PMID:12526080
RGD:1582580
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
G
Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:12526080
RGD:1582580
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Duox2
dual oxidase 2
treatment
ISO
RGD
PMID:29133347
RGD:40925924
NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
G
Mir155
microRNA 155
ISO
miRNA:increased expression:duodenum
RGD
PMID:28319200
RGD:25314323
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
G
Ifna1
interferon, alpha 1
susceptibility
ISO
DNA:SNP:promoter: -1823G>A (rs1332190)(human)
RGD
PMID:26694082
RGD:36174029
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:SNP:exon:p.G54D(rs1800450)(human)
RGD
PMID:15249448
RGD:8693755
NCBI chr 1:228,016,439...228,024,736
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
protein:decreased expression:bronchiole epithelium
RGD
PMID:15364771
RGD:7364741
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
G
Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
DNA:insertion/deletion
RGD
PMID:15709052
RGD:7349353
NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
G
Mucl3
mucin like 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22152429
NCBI chr20:3,100,652...3,108,569
Ensembl chr20:3,100,679...3,108,569
G
Tap2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
DNA:polymorphisms:exon:
RGD
PMID:10323341
RGD:5147847
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
G
Csf3
colony stimulating factor 3
IEP
RGD
PMID:9835289
RGD:11039473
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
G
Fgf7
fibroblast growth factor 7
ISO
mRNA:increased expression:distal colon (mouse)
RGD
PMID:10338516
RGD:126928149
NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
G
Abcb1a
ATP binding cassette subfamily B member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24498193
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
G
Ccl4
C-C motif chemokine ligand 4
IEP
mRNA:increased expression:brain
RGD
PMID:16238536
RGD:5683919
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
G
Hba-a1
hemoglobin alpha, adult chain 1
treatment
ISO
RGD
PMID:18786935
RGD:10449443
NCBI chr10:15,337,265...15,338,121
Ensembl chr10:15,307,815...15,338,392
G
Hba-a2
hemoglobin alpha, adult chain 2
treatment
ISO
RGD
PMID:18786935
RGD:10449443
NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392
G
Hba-a3
hemoglobin alpha, adult chain 3
treatment
ISO
RGD
PMID:18786935
RGD:10449443
NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481
G
Irak3
interleukin-1 receptor-associated kinase 3
treatment
ISO
RGD
PMID:27832756
RGD:34888235
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
G
Lcn2
lipocalin 2
exacerbates
ISO
protein:increased expression:serum
RGD
PMID:25234944 PMID:16446425 PMID:25234944
RGD:126725084 , RGD:126779557 , RGD:126725084
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
G
Muc2
mucin 2, oligomeric mucus/gel-forming
IEP
RGD
PMID:23798529
RGD:7349358
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
G
Ntrk2
neurotrophic receptor tyrosine kinase 2
onset
IEP
protein:decreased expression:hippocampus
RGD
PMID:21411668
RGD:5684914
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
G
Plac8
placenta associated 8
severity
ISO
RGD
PMID:17404296
RGD:40924563
NCBI chr14:9,052,601...9,074,264
Ensembl chr14:9,063,048...9,074,264
G
Rnasel
ribonuclease L
severity
ISO
RGD
PMID:19075243
RGD:40902812
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
G
Slc6a4
solute carrier family 6 member 4
ISO
RGD
PMID:19747920
RGD:36947380
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
G
Tnf
tumor necrosis factor
IEP
protein:increased expression:serum (rat)
RGD
PMID:9466473
RGD:38508904
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tlr2
toll-like receptor 2
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr4
toll-like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Tlr7
toll-like receptor 7
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754
G
Mir21
microRNA 21
severity
ISO
associated with colorectal cancer
RGD
PMID:27876571
RGD:40925941
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
G
Irak3
interleukin-1 receptor-associated kinase 3
severity
ISO
RGD
PMID:25585690
RGD:11527046
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
G
Lcn2
lipocalin 2
ISO
mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium
RGD
PMID:16153241
RGD:126781709
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
G
Mir21
microRNA 21
ameliorates
ISO
associated with asthma;
RGD
PMID:27448447
RGD:41404696
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
mRNA, protein:increased expression:macrophage, lung:
RGD
PMID:27330052
RGD:39131287
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
G
Sting1
stimulator of interferon response cGAMP interactor 1
ISO
mRNA,protein:increased expression:lung (mouse)
RGD
PMID:29421524
RGD:39128228
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
G
Fcgr2a
Fc gamma receptor 2A
susceptibility
ISO
associated with Anemia, Sickle Cell;DNA:polymorphism:cds:p.H131R(human)
RGD
PMID:8648541
RGD:11040885
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
G
Abcb1a
ATP binding cassette subfamily B member 1A
sexual_dimorphism no_association
ISO
associated with peptic ulcer disease;DNA:SNP: :3435C>T(human) DNA:haplotype: :3435T> C,2677T>G ,1236C>T (human)
RGD
PMID:22001987 PMID:27611887
RGD:39456093 , RGD:39456122
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
G
Ace
angiotensin I converting enzyme
susceptibility
ISO
DNA:insertion/deletion:intron:
RGD
PMID:28746216
RGD:40400710
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Acvr1b
activin A receptor type 1B
disease_progression
ISO
associated with stomach cancer;mRNA:increased expression:stomach:
RGD
PMID:32066878
RGD:151665490
NCBI chr 7:132,286,266...132,329,679
Ensembl chr 7:132,286,275...132,329,673
G
Aicda
activation-induced cytidine deaminase
ISO
protein:increased expression:mucosa of stomach (human)
RGD
PMID:23591766
RGD:127285627
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
G
Atm
ATM serine/threonine kinase
ISO
associated with stomach cancer;mRNA:increased expression:stomach (human)
RGD
PMID:29128564
RGD:126790563
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
G
Birc3
baculoviral IAP repeat-containing 3
treatment
ISO
associated with stomach cancer associated with MALT lymphoma;DNA:gene fusion: (human)
RGD
PMID:27282269 PMID:11398794
RGD:153297818 , RGD:153305954
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
G
Ccnd2
cyclin D2
treatment
ISO
associated with Gastrointestinal Neoplasms or gastritis mRNA:increased expression:stomach:
RGD
PMID:11552926 PMID:12133540
RGD:151665103 , RGD:151665119
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
G
Cd1d1
CD1d1 molecule
ISO
associated with dyspepsia;mRNA:splice variant:pyloric antrum (human)
RGD
PMID:26119195
RGD:11074500
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
G
Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19184424
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
G
Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15138205
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
G
Cxcl6
C-X-C motif chemokine ligand 6
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
G
Cybb
cytochrome b-245 beta chain
disease_progression
ISO
mRNA,protein:increased expression:mucosa of stomach (human)
RGD
PMID:27048452
RGD:40924640
NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
G
Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment no_association
ISO
DNA:polymorphisms:exons: DNA:polymorphisms::
RGD
PMID:9867757 PMID:27706745 PMID:15691303
RGD:124713408 , RGD:124713537 , RGD:124713409
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
G
Cysltr1
cysteinyl leukotriene receptor 1
treatment
ISO
RGD
PMID:18571838
RGD:40903061
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
G
Duox2
dual oxidase 2
disease_progression
ISO
mRNA,protein:decreased expression:mucosa of stomach (human)
RGD
PMID:27048452
RGD:40924640
NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
G
Egf
epidermal growth factor
treatment
ISO
associated with gastritis;
RGD
PMID:25051417
RGD:38599160
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
G
Egfr
epidermal growth factor receptor
treatment
ISO
associated with gastritis;
RGD
PMID:25051417 PMID:28473630
RGD:38599160 , RGD:38599214
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
G
Erbb2
erb-b2 receptor tyrosine kinase 2
treatment
ISO
associated with gastritis;
RGD
PMID:25051417
RGD:38599160
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
G
F2r
coagulation factor II (thrombin) receptor
ISO
RGD
PMID:24866378
RGD:40924630
NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870
G
Gab1
GRB2-associated binding protein 1
susceptibility
ISO
DNA:SNP:intron:
RGD
PMID:17211494
RGD:39128202
NCBI chr19:27,131,262...27,239,236
Ensembl chr19:27,131,262...27,239,236
G
Hamp
hepcidin antimicrobial peptide
treatment
ISO
RGD
PMID:21757452
RGD:11041721
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
G
Hmox1
heme oxygenase 1
ISO
RGD
PMID:16100019
RGD:1598398
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
G
Ifng
interferon gamma
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Ifngr1
interferon gamma receptor 1
susceptibility
ISO
ClinVar Annotator: match by term: Helicobacter pylori infection, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:10192386 PMID:11583830 PMID:12516030 PMID:16690980 PMID:18171304 PMID:19488747 PMID:20015550 PMID:25741868 PMID:28492532 PMID:28902581 More...
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
G
Il1b
interleukin 1 beta
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il21
interleukin 21
ISO
mRNA, protein:increased expression:mucosa of stomach (human)
RGD
PMID:17442980 PMID:31383743
RGD:127285542 , RGD:127285544
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
G
Il33
interleukin 33
severity
ISO
associated with Helicobacter Infections;DNA:SNP: : rs1929992(human) mRNA:increased expression:stomach
RGD
PMID:31491552 PMID:31320834
RGD:39938849 , RGD:39939030
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
G
Il6
interleukin 6
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Lcn2
lipocalin 2
ISO
protein:increased expression:gastric mucosa
RGD
PMID:19727808
RGD:126781713
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
G
Ltb4r
leukotriene B4 receptor
treatment
ISO
RGD
PMID:18571838
RGD:40903061
NCBI chr15:29,263,199...29,265,716
G
Mapk8
mitogen-activated protein kinase 8
ISO
protein:increased expression:pyloric antrum (human)
RGD
PMID:17643099
RGD:150340691
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
G
Mir155
microRNA 155
ISO
miRNA:increased expression:stomach
RGD
PMID:29250766 PMID:28560185
RGD:21408595 , RGD:25671377
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
G
Mir222
microRNA 222
ISO
associated with stomach cancer;RNA:increased expression:stomach:
RGD
PMID:29227536
RGD:151708731
NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human)
RGD
PMID:23183616 PMID:20957490
RGD:38501056 , RGD:38501057
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Muc6
mucin 6, oligomeric mucus/gel-forming
ISO
protein:increased expression:stomach epithelium
RGD
PMID:15280409
RGD:7364760
NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
G
Myd88
MYD88, innate immune signal transduction adaptor
ISO
RGD
PMID:28201999
RGD:150519916
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
G
Pdcd1
programmed cell death 1
severity
ISO
RGD
PMID:21562113
RGD:40818417
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
G
Prkaa1
protein kinase AMP-activated catalytic subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
G
Psca
prostate stem cell antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chr 7:106,598,203...106,603,114
Ensembl chr 7:106,595,284...106,609,746
G
Pten
phosphatase and tensin homolog
ISO
associated with gastritis;protein:increased phosphorylation:stomach (human)
RGD
PMID:26376616
RGD:127285599
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
susceptibility
ISO
DNA:SNP:intron: rs2301756(human)
RGD
PMID:19589142
RGD:39128247
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
G
Ptprz1
protein tyrosine phosphatase, receptor type Z1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17030583
NCBI chr 4:51,397,316...51,595,220
Ensembl chr 4:51,397,601...51,595,218
G
RT1-Ba
RT1 class II, locus Ba
resistance
ISO
associated with Diabetes Mellitus, Insulin-Dependent
RGD
PMID:11860411
RGD:2301818
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
associated with Purpura, Thrombocytopenic, Idiopathic;DNA:polymorphisms (human) DNA:polymorphisms: :HLA-DQB1*301, HLA-DQB1*04(human)
RGD
PMID:16011982 PMID:15833172
RGD:5147649 , RGD:36049761
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
associated with Purpura, Thrombocytopenic, Idiopathic;DNA:polymorphisms (human) DNA:polymorphisms: :HLA-DRB1*11, HLA-DRB1*12(human)
RGD
PMID:16011982 PMID:15833172
RGD:5147649 , RGD:36049761
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Slc6a4
solute carrier family 6 member 4
ISO
DNA:repeats:promoter:
RGD
PMID:24720453
RGD:36947385
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
G
Socs3
suppressor of cytokine signaling 3
IEP
mRNA, protein:increased expression
RGD
PMID:17405912
RGD:1625683
NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
G
Tff1
trefoil factor 1
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597
G
Tff2
trefoil factor 2
disease_progression
ISO
protein:increased expression:stomach epithelium mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:15280409 PMID:29085807
RGD:7364760 , RGD:38549349
NCBI chr20:9,215,750...9,219,619
Ensembl chr20:9,215,761...9,219,619
G
Tff3
trefoil factor 3
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
G
Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16733738 PMID:17163184
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
G
Vip
vasoactive intestinal peptide
ISO
protein:increased expression:spinal cord, stomach
RGD
PMID:19906107
RGD:5685602
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
G
Apoe
apolipoprotein E
severity
ISO
RGD
PMID:10998083
RGD:11039489
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Il6
interleukin 6
treatment
IDA
RGD
PMID:8432613
RGD:11062093
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Tlr9
toll-like receptor 9
ISO
RGD
PMID:17785831
RGD:5130866
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
G
Il23a
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:16157683
RGD:39457940
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
G
Irak3
interleukin-1 receptor-associated kinase 3
severity
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:22729155 PMID:20864681
RGD:35316077 , RGD:36049798
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
G
Lcn2
lipocalin 2
exacerbates ameliorates
ISO
protein:increased expression:lung protein:increased expression:serum
RGD
PMID:29633303 PMID:19342674 PMID:19342674 PMID:19342674 PMID:25234944 PMID:25234944 More...
RGD:126725082 , RGD:126725085 , RGD:126725085 , RGD:126725085 , RGD:126725084 , RGD:126725084
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
G
Plac8
placenta associated 8
severity
ISO
RGD
PMID:17404296
RGD:40924563
NCBI chr14:9,052,601...9,074,264
Ensembl chr14:9,063,048...9,074,264
G
Trem1
triggering receptor expressed on myeloid cells 1
disease_progression
ISO
RGD
PMID:24396044
RGD:126925976
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
G
Ada
adenosine deaminase
ISO
protein:increased expression:serum
RGD
PMID:9255891
RGD:5128857
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
G
Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:16113250
RGD:4891897
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
G
Cxcl1
C-X-C motif chemokine ligand 1
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11254553
RGD:5135252
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
G
Cxcl2
C-X-C motif chemokine ligand 2
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11254553
RGD:5135252
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
G
Cxcl6
C-X-C motif chemokine ligand 6
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11254553
RGD:5135252
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
G
Cxcr2
C-X-C motif chemokine receptor 2
ISO
RGD
PMID:11254553
RGD:5135252
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11349020
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Il18
interleukin 18
ISO
RGD
PMID:11083766
RGD:4889865
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
G
Mbl2
mannose binding lectin 2
susceptibility
ISO
RGD
PMID:19073229
RGD:12910934
NCBI chr 1:228,016,439...228,024,736
G
Nod1
nucleotide-binding oligomerization domain containing 1
ISO
RGD
PMID:20685341
RGD:5131443
NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404
G
Nod2
nucleotide-binding oligomerization domain containing 2
ISO
RGD
PMID:20685341
RGD:5131443
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
G
Tlr5
toll-like receptor 5
susceptibility
ISO
DNA:nonsense mutation:cds:p.R392X (human) ClinVar Annotator: match by term: Legionnaire disease, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:14623910 PMID:16027372 PMID:23447684 PMID:25741868 PMID:14623910 PMID:17982089 More...
RGD:5129477 , RGD:5129510
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
G
Tlr9
toll-like receptor 9
ISO
RGD
PMID:18426877
RGD:5130707
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
G
Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:18838275
RGD:5131445
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
G
Tnfrsf1b
TNF receptor superfamily member 1B
ISO
RGD
PMID:18838275
RGD:5131445
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
G
Ache
acetylcholinesterase
IEP
RGD
PMID:21921108
RGD:5688128
NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651
G
Ada
adenosine deaminase
IEP
RGD
PMID:21320715
RGD:5128858
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
G
Bche
butyrylcholinesterase
IEP
protein:increased expression:serum
RGD
PMID:21921108
RGD:5688128
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
G
F2
coagulation factor II, thrombin
severity
ISO
protein:increased expression:blood plasma (human)
RGD
PMID:18171258 PMID:20002620
RGD:40818429 , RGD:40819859
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
G
Il1b
interleukin 1 beta
ISO
mRNA, protein:increased expression:kidney (mouse)
RGD
PMID:22323544
RGD:7175257
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Mbl2
mannose binding lectin 2
severity
ISO
protein:increased expression:serum
RGD
PMID:19330263
RGD:6903260
NCBI chr 1:228,016,439...228,024,736
G
Tlr2
toll-like receptor 2
ISO
RGD
PMID:19635914
RGD:7240557
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr4
toll-like receptor 4
ISO
RGD
PMID:19635914 PMID:16428731
RGD:7240557 , RGD:7241090
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Ccl20
C-C motif chemokine ligand 20
ISO
protein:increased expression:synovial fluid
RGD
PMID:23371320
RGD:7488895
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
G
Cxcr2
C-X-C motif chemokine receptor 2
severity
ISO
RGD
PMID:12847259
RGD:7257681
NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
G
Mir146a
microRNA 146a
exacerbates
ISO
RGD
PMID:24967703
RGD:126925141
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
G
Nod2
nucleotide-binding oligomerization domain containing 2
ISO
RGD
PMID:21387014
RGD:5508754
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
G
Plaur
plasminogen activator, urokinase receptor
ISO
mRNA:increased expression:skin
RGD
PMID:19461880 PMID:19461880
RGD:6483813 , RGD:6483813
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
G
Ccl2
C-C motif chemokine ligand 2
ISO
protein:increased expression:serum (human)
RGD
PMID:16358960
RGD:11528571
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Cd40
CD40 molecule
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
G
Il1b
interleukin 1 beta
IDA
RGD
PMID:23134838
RGD:7193053
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Ifna1
interferon, alpha 1
ISO
mRNA:increased expression:PBMC
RGD
PMID:28435890
RGD:36174031
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
G
Irak3
interleukin-1 receptor-associated kinase 3
ISO
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:19114913
RGD:36049801
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
G
Plaur
plasminogen activator, urokinase receptor
ISO
RGD
PMID:20142364
RGD:6484129
NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595
G
Serpinf1
serpin family F member 1
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:23992406 PMID:25370187 PMID:23992406
RGD:36174010 , RGD:36174011 , RGD:36174010
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
G
Tlr5
toll-like receptor 5
susceptibility
ISO
mRNA:increased expression:blood, monocyte, granulocyte (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Melioidosis, resistance to
OMIM CTD ClinVar RGD
PMID:14623910 PMID:16027372 PMID:23447684 PMID:17676990
RGD:5129511
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
G
Trem1
triggering receptor expressed on myeloid cells 1
severity treatment
ISO
RGD
PMID:18008257 PMID:18008257 PMID:18008257
RGD:126928120 , RGD:126928120 , RGD:126928120
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
G
Ace
angiotensin I converting enzyme
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11956052
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Add1
adducin 1
ISO
DNA:missense mutation:cds:p.G460W (human)
RGD
PMID:18679149
RGD:5147999
NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
G
C3
complement C3
severity
ISO
RGD
PMID:3491693
RGD:11041157
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
G
Cfb
complement factor B
severity
ISO
RGD
PMID:3491693
RGD:11041157
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
G
Cfd
complement factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16527897
NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
G
Cfh
complement factor H
treatment exacerbates
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20694013 PMID:25143339 PMID:19047406
RGD:11041174 , RGD:108019051
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
G
Cpb2
carboxypeptidase B2
ISO
RGD
PMID:14717966
RGD:1598478
NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
G
Fcgr2a
Fc gamma receptor 2A
severity
ISO
associated with complement deficiency;DNA:missense mutation:cds:p.H131R (human) DNA:polymorphism:cds:p.H131R (human)
RGD
PMID:10792385 PMID:11812402
RGD:5147980 , RGD:11040998
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
G
Il4
interleukin 4
susceptibility
ISO
DNA:SNP:promoter:-524C>T(human)
RGD
PMID:20016407
RGD:14696700
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
C9
complement C9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9570574
NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338
G
Cd46
CD46 molecule
ISO
RGD
PMID:12869763
RGD:6483466
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
G
Cfp
complement factor properdin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8530058 PMID:10909851
NCBI chr X:1,162,014...1,167,576
Ensembl chr X:1,161,979...1,167,573
G
Marco
macrophage receptor with collagenous structure
IEP
protein:increased expression:sub-cortical, meninges, astrocyte
RGD
PMID:21299846
RGD:41412190
NCBI chr13:31,616,278...31,648,521
Ensembl chr13:31,616,278...31,648,521
G
Mmp13
matrix metallopeptidase 13
IEP
RGD
PMID:10430840
RGD:8547971
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
G
Mmp9
matrix metallopeptidase 9
IEP
RGD
PMID:10430840
RGD:8547971
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Nod2
nucleotide-binding oligomerization domain containing 2
susceptibility
ISO
DNA:SNP,haplotype: :SNP8(human)
RGD
PMID:23691182
RGD:7800668
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
G
Slc11a1
solute carrier family 11 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
G
Tlr2
toll-like receptor 2
susceptibility
ISO
DNA:haplotype: :2477G>A(rs5743708)(human)
RGD
PMID:23691182
RGD:7800668
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tlr4
toll-like receptor 4
susceptibility
ISO
DNA:SNP,haplotype: :896A>G(rs4986790)(human)
RGD
PMID:23691182
RGD:7800668
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Casp3
caspase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20179380
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
G
Ccr5
C-C motif chemokine receptor 5
ISO
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)
RGD
PMID:17445875
RGD:4892129
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20179380
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
G
Mmp9
matrix metallopeptidase 9
IEP
RGD
PMID:17217365
RGD:1642046
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20179380
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
G
Ada
adenosine deaminase
ISO
protein:increased expression:serum
RGD
PMID:9255891
RGD:5128857
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
G
Atp1b2
ATPase Na+/K+ transporting subunit beta 2
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
G
Ccl4
C-C motif chemokine ligand 4
ISO
RGD
PMID:16988274
RGD:4892091
NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231
G
Ccl5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:lung, secretion (mouse)
RGD
PMID:18717637
RGD:4891914
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Ccr5
C-C motif chemokine receptor 5
ISO
protein:increased expression:lung, T-helper cell (mouse)
RGD
PMID:16988274
RGD:4892091
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Clec5a
C-type lectin domain containing 5A
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 4:69,407,125...69,416,872
Ensembl chr 4:69,407,835...69,416,859
G
Col3a1
collagen type III alpha 1 chain
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547
G
Col6a1
collagen type VI alpha 1 chain
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
G
Col6a2
collagen type VI alpha 2 chain
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
G
Crp
C-reactive protein
ISO
RGD
PMID:21426633
RGD:5131292
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
G
Dnase1l3
deoxyribonuclease 1L3
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr15:16,922,335...16,948,322
Ensembl chr15:16,922,335...16,948,317
G
Fcer2
Fc epsilon receptor II
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr12:1,742,809...1,754,476
Ensembl chr12:1,742,815...1,754,476
G
Flt1
Fms related receptor tyrosine kinase 1
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
G
Galc
galactosylceramidase
ISO
associated with Guillain-Barre syndrome; protein:increased expression:serum (human) associated with Guillain-Barre syndrome; protein:increased expression:Cerebrospinal fluid, serum (human) protein:increased expression:serum (mouse)
RGD
PMID:27490360 PMID:29301655 PMID:30396892 PMID:30396892 PMID:12225900
RGD:38599168 , RGD:38599172 , RGD:38599171 , RGD:38599171 , RGD:38599169
NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830
G
Hdc
histidine decarboxylase
ISO
RGD
PMID:17158962
RGD:5143920
NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341
G
Htra3
HtrA serine peptidase 3
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr14:75,068,917...75,097,315
Ensembl chr14:75,068,917...75,097,315
G
Ifng
interferon gamma
ISO
mRNA:increased expression:lung:
RGD
PMID:7935058
RGD:10755754
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Il13
interleukin 13
ISO
protein:increased expression:serum
RGD
PMID:20416219
RGD:4145765
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
G
Il22ra2
interleukin 22 receptor subunit alpha 2
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 1:14,353,736...14,377,844
Ensembl chr 1:14,364,489...14,377,844
G
Inhba
inhibin subunit beta A
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982
G
Klrb1
killer cell lectin like receptor B1
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 4:162,456,294...162,474,989
Ensembl chr 4:162,456,294...162,474,989
G
Ms4a1
membrane spanning 4-domains A1
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
G
Pld4
phospholipase D family, member 4
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 6:131,818,860...131,827,457
Ensembl chr 6:131,818,860...131,826,376
G
Spib
Spi-B transcription factor
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 1:95,018,939...95,024,804
Ensembl chr 1:95,018,947...95,024,780
G
Tcf7
transcription factor 7
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr10:36,423,443...36,454,350
Ensembl chr10:36,423,445...36,453,535
G
Tcl1a
Tcl1 family Akt coactivator A
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:serum
RGD
PMID:20416219
RGD:4145765
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tnfrsf13c
TNF receptor superfamily member 13C
severity
ISO
RGD
PMID:28302172
RGD:32716376
NCBI chr 7:113,736,046...113,738,523
Ensembl chr 7:113,736,055...113,738,517
G
C8a
complement C8 alpha chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9759902
NCBI chr 5:119,583,168...119,637,675
Ensembl chr 5:119,583,174...119,637,754
G
C8b
complement C8 beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8098723
NCBI chr 5:119,535,009...119,572,565
Ensembl chr 5:119,535,146...119,572,565
G
Cd40
CD40 molecule
ISO
RGD
PMID:19202131
RGD:5132273
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
G
Cfd
complement factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11457876
NCBI chr 7:9,813,148...9,814,871
Ensembl chr 7:9,813,150...9,815,053
G
Cp
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16755360
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
G
Crp
C-reactive protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16755360
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
G
Hp
haptoglobin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16755360
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Hp
haptoglobin
ISO
RGD
PMID:21388634
RGD:5144216
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
G
Ccr5
C-C motif chemokine receptor 5
resistance
IAGP
DNA:polymorphism:cds:p.H184R (rat)
RGD
PMID:18703167
RGD:4890425
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
G
Cxcl1
C-X-C motif chemokine ligand 1
ISO
RGD
PMID:21356370
RGD:5134954
NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
G
Fpr1
formyl peptide receptor 1
ISO
ClinVar Annotator: match by term: N-FORMYLPEPTIDE RECEPTOR POLYMORPHISM
ClinVar
PMID:25741868 PMID:28492532 PMID:31534221
NCBI chr 1:58,745,019...58,756,776
Ensembl chr 1:58,747,246...58,756,559
G
Il17a
interleukin 17A
IEP
mRNA,protein:increased expression:lymph node
RGD
PMID:20876291
RGD:4781452
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il1b
interleukin 1 beta
ISO
RGD
PMID:20565713
RGD:4142820
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Mavs
mitochondrial antiviral signaling protein
susceptibility
ISO
RGD
PMID:25064677
RGD:40903046
NCBI chr 3:118,451,650...118,466,094
Ensembl chr 3:118,451,743...118,466,094
G
Ido1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:20385761
RGD:39938865
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
G
Abo
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
susceptibility
ISO
DNA:polymorphism:cds:allele B (human)
RGD
PMID:22464692
RGD:38455983
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
G
Anxa2
annexin A2
severity
ISO
RGD
PMID:26371245
RGD:38676497
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
G
Ccl17
C-C motif chemokine ligand 17
ISO
associated with Cystic Fibrosis
RGD
PMID:16387607
RGD:4145500
NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
G
Ccl5
C-C motif chemokine ligand 5
treatment
ISO
protein:increased expression:lung, secretion (mouse)
RGD
PMID:20720199 PMID:27175332
RGD:4891951 , RGD:32733623
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Cftr
CF transmembrane conductance regulator
ISO
RGD
PMID:15039325 PMID:11390493
RGD:36049749 , RGD:36049752
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
G
Crp
C-reactive protein
IEP ISO
protein:increased expression:blood associated with Diabetes Mellitus, Type 1;
RGD
PMID:19561148 PMID:22864910
RGD:5131464 , RGD:6906966
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
G
Csf2
colony stimulating factor 2
treatment
ISO
associated with Neutropenia;
RGD
PMID:1966550
RGD:10449524
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
G
Dctn4
dynactin subunit 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22772370
NCBI chr18:53,982,355...54,009,409
Ensembl chr18:53,982,358...54,009,399
G
Defb1
defensin beta 1
no_association susceptibility
ISO
associated with Cystic Fibrosis;DNA:SNPs:5' utr, intron, 3' utr:multiple (human) associated with Cystic Fibrosis;DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human)
RGD
PMID:15820309 PMID:17960157 PMID:20193032
RGD:4892256 , RGD:4892250 , RGD:4892248
NCBI chr16:70,298,862...70,313,604
Ensembl chr16:70,298,863...70,313,604
G
Fcgr2a
Fc gamma receptor 2A
ISO
associated with Cystic Fibrosis; DNA:polymorphism: :p.H131R (human)
RGD
PMID:15367919
RGD:4144121
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
G
Fgf2
fibroblast growth factor 2
treatment
ISO
human protein in mouse model
RGD
PMID:26617350
RGD:126928152
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
G
Fgf7
fibroblast growth factor 7
treatment
ISO
human protein in rat model
RGD
PMID:11076810
RGD:126928130
NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
G
Gsta4
glutathione S-transferase alpha 4
susceptibility
ISO
RGD
PMID:22038048
RGD:5687774
NCBI chr 8:79,066,967...79,084,193
Ensembl chr 8:79,066,934...79,084,182
G
Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
associated with Cystic Fibrosis
RGD
PMID:18976645
RGD:4142522
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
G
Il13
interleukin 13
ISO
associated with Cystic Fibrosis
RGD
PMID:16387607
RGD:4145500
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
G
Il1b
interleukin 1 beta
treatment
ISO
associated with Agranulocytosis
RGD
PMID:7486912 PMID:7923933
RGD:7401204 , RGD:10450534
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rn
interleukin 1 receptor antagonist
ISO
associated with Cystic Fibrosis
RGD
PMID:8327288
RGD:4143202
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il24
interleukin 24
ISO
associated with Cystic Fibrosis
RGD
PMID:19399182
RGD:5147421
NCBI chr13:42,353,089...42,358,487
Ensembl chr13:42,353,090...42,358,487
G
Il27
interleukin 27
ameliorates
ISO
associated with Sepsis
RGD
PMID:25074706
RGD:126790541
NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582
G
Il33
interleukin 33
ISO
mRNA:increased expression:lung:
RGD
PMID:28401938
RGD:40400699
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
G
Il6
interleukin 6
treatment
ISO
RGD
PMID:27175332
RGD:32733623
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Irak3
interleukin-1 receptor-associated kinase 3
severity
ISO
associated with Sepsis
RGD
PMID:16917541
RGD:36049803
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
G
Klrk1
killer cell lectin like receptor K1
ISO
RGD
PMID:18832705
RGD:38676496
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
G
Mapk8
mitogen-activated protein kinase 8
ameliorates
ISO
associated with Pneumonia, Ventilator-Associated
RGD
PMID:27506464
RGD:150340682
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
G
Mbl2
mannose binding lectin 2
onset
ISO
associated with Cystic Fibrosis; DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:20068595
RGD:4889579
NCBI chr 1:228,016,439...228,024,736
G
Pten
phosphatase and tensin homolog
exacerbates
ISO
RGD
PMID:29246444
RGD:127285608
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
G
Ptx3
pentraxin 3
susceptibility
ISO
associated with cystic fibrosis; DNA:SNPs, haplotypes:cds:rs35948036,rs2305619,rs1840680,rs3816527(human)
RGD
PMID:20927127
RGD:35673347
NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
G
RT1-Ba
RT1 class II, locus Ba
ISO
associated with Cystic Fibrosis;DNA:polymorphisms, haplotype:cds:HLA-DQA1*0201 (human)
RGD
PMID:10228112
RGD:5147865
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
Sftpb
surfactant protein B
ameliorates
ISO
RGD
PMID:20007532
RGD:151667448
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
G
Tlr5
toll-like receptor 5
ISO
RGD
PMID:20566829
RGD:5129679
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
G
Tnf
tumor necrosis factor
treatment
ISO
associated with Agranulocytosis
RGD
PMID:7923933 PMID:27175332 PMID:8168971
RGD:10450534 , RGD:32733623 , RGD:10450561
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:20448050
RGD:5131427
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
G
Ada
adenosine deaminase
ISO
protein:increased expression:serum
RGD
PMID:9255891
RGD:5128857
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
G
Dhcr24
24-dehydrocholesterol reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137
G
Flot1
flotillin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr20:2,917,864...2,927,993
Ensembl chr20:2,917,137...2,927,978
G
Hmgcr
3-hydroxy-3-methylglutaryl-CoA reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
G
Ldlr
low density lipoprotein receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
G
Lss
lanosterol synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
G
RT1-Ba
RT1 class II, locus Ba
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:17321882
RGD:8547664
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:haplotype: :
RGD
PMID:17321882
RGD:8547664
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
Rapgef3
Rap guanine nucleotide exchange factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24218580
NCBI chr 7:128,875,772...128,898,203
Ensembl chr 7:128,875,773...128,898,521
G
Adar
adenosine deaminase, RNA-specific
ISO
mRNA:splice variant:liver (mouse)
RGD
PMID:12228285
RGD:125097511
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
G
Ahr
aryl hydrocarbon receptor
severity
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
G
Aicda
activation-induced cytidine deaminase
severity
ISO
RGD
PMID:29743315
RGD:127285640
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
G
Ank1
ankyrin 1
ISO
RGD
PMID:23390527
RGD:11041609
NCBI chr16:68,876,294...69,054,963
Ensembl chr16:68,877,504...69,054,759
G
Hamp
hepcidin antimicrobial peptide
ISO
RGD
PMID:23390527
RGD:11041609
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
G
Ido1
indoleamine 2,3-dioxygenase 1
susceptibility
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16002714
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Slc11a1
solute carrier family 11 member 1
ISO
RGD
PMID:14734525
RGD:5684962
NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101
G
Tlr5
toll-like receptor 5
IEP
mRNA, protein:increased expression:jejunum, colon (rat)
RGD
PMID:20529359
RGD:5129497
NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
G
Coq7
coenzyme Q7, hydroxylase
susceptibility
ISO
RGD
PMID:23166727
RGD:10402105
NCBI chr 1:172,836,359...172,851,173
Ensembl chr 1:172,835,188...172,851,158
G
Il12b
interleukin 12B
susceptibility
ISO
disseminated BCG and Salmonella enteritidis infection, OMIM:209950
RGD
PMID:9854038
RGD:1600042
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
G
Egf
epidermal growth factor
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
G
Ido1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730
G
Il10
interleukin 10
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il12b
interleukin 12B
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
G
Il1b
interleukin 1 beta
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Rapgef3
Rap guanine nucleotide exchange factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24218580
NCBI chr 7:128,875,772...128,898,203
Ensembl chr 7:128,875,773...128,898,521
G
Cd40
CD40 molecule
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
G
Cd40lg
CD40 ligand
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
G
Il10
interleukin 10
no_association severity
ISO
protein:increased expression:tear DNA:SNP:promoter:−1082G>A (human) DNA:SNP:promoter:−819T>C, −592A>C (human) DNA:SNP, haplotype:promoter:−1082G>A (human) DNA:haplotype: :
RGD
PMID:18628987 PMID:11023480 PMID:11023480 PMID:15789056 PMID:17947295
RGD:7365037 , RGD:7365085 , RGD:7365085 , RGD:7365072 , RGD:7365053
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il17a
interleukin 17A
ISO
mRNA:increased expression:conjunctiva (human)
RGD
PMID:21911461
RGD:9068420
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
RT1-CE13
RT1 class I, locus CE13
ISO
DNA:polymorphisms:cds:HLA-B*14 (human, Tanzanian)
RGD
PMID:18824733
RGD:7364877
NCBI chr20:3,314,830...3,318,106
G
Tnf
tumor necrosis factor
ISO
DNA:SNP, haplotypes:promoter:−308G>A (human)
RGD
PMID:17330135
RGD:8548830
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
Col1a1
collagen type I alpha 1 chain
ISO
mRNA:decreased expression:tarsal conjunctiva (human)
RGD
PMID:20375326
RGD:8552676
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
G
Cd86
CD86 molecule
ISO
protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:16272336
RGD:4892560
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
G
Cxcl2
C-X-C motif chemokine ligand 2
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:21277990
RGD:5135025
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
G
Ifng
interferon gamma
ISO
protein:increased expression:serum
RGD
PMID:26853540
RGD:14974256
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Il17a
interleukin 17A
ISO
RGD
PMID:20585449
RGD:4888521
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
G
Il23a
interleukin 23 subunit alpha
ISO
RGD
PMID:25296161
RGD:39458039
NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
G
Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:17202364
RGD:5130727
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Cftr
CF transmembrane conductance regulator
susceptibility
ISO
DNA:repeats: :CA repeats(human)
RGD
PMID:16078047
RGD:35673348
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
G
Lta
lymphotoxin alpha
susceptibility
ISO
DNA:SNP::
RGD
PMID:11120931
RGD:36049756
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
G
RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms::
RGD
PMID:11120931
RGD:36049756
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
G
RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism: :HLA-DRB1*04:05, rs7765379(human) DNA:polymorphisms::
CTD RGD
PMID:25383971 PMID:25383971 PMID:11120931
RGD:36174025 , RGD:36049756
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Tlr2
toll-like receptor 2
ISO
RGD
PMID:25667264
RGD:11061268
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
G
Tnf
tumor necrosis factor
susceptibility
ISO
DNA:SNP:promoter:-308G>A (rs1800629) (human)
RGD
PMID:11120931
RGD:36049756
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all