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.
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CASP3
caspase 3
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:16443785
RGD:2311430
NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
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CASP8
caspase 8
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:16443785
RGD:2311430
NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836
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CASP9
caspase 9
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent
RGD
PMID:16443785
RGD:2311430
NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
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CRP
C-reactive protein
IEP
RGD
PMID:23937512
RGD:9495911
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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DOCK8
dedicator of cytokinesis 8
susceptibility
IAGP
DNA:mutations: :
RGD
PMID:25724123
RGD:40886274
NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259
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HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
onset
IAGP
associated with Cystic Fibrosis;DNA:polymorphism (human)
RGD
PMID:16987934
RGD:5147635
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
onset
IAGP
associated with Cystic Fibrosis;DNA:polymorphism (human)
RGD
PMID:16987934
RGD:5147635
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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IL10
interleukin 10
IEP
associated with Otitis Media
RGD
PMID:22668804
RGD:7364828
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL2
interleukin 2
IEP
associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood
RGD
PMID:21574159
RGD:5147907
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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MBL2
mannose binding lectin 2
susceptibility
IAGP
associated with Precursor B-Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism:exon:
RGD
PMID:24453114
RGD:11530056
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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NOD2
nucleotide binding oligomerization domain containing 2
ISO
associated with Virus Diseases
RGD
PMID:21669398
RGD:5508748
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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SDC4
syndecan 4
ISO
RGD
PMID:15001228
RGD:2312325
NCBI chr20:45,325,288...45,348,424
Ensembl chr20:45,325,288...45,348,424
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TBCE
tubulin folding cofactor E
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12389028
NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
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ABCB1
ATP binding cassette subfamily B member 1
treatment
IAGP
DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human) DNA:SNP: : rs10276036(human)
RGD
PMID:23372834 PMID:24517233
RGD:39456119 , RGD:11098698
NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
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ARHGAP44
Rho GTPase activating protein 44
disease_progression
IAGP
DNA:SNPs, haplotype:intron, exon: (rs2072255, rs2072254) (human) DNA:SNP:intron: (rs2072255) (human)
RGD
PMID:28069446 PMID:21107268
RGD:401901288 , RGD:401901289
NCBI chr17:12,789,498...12,991,643
Ensembl chr17:12,789,498...12,991,643
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BST2
bone marrow stromal cell antigen 2
IAGP
DNA:SNPs: :
RGD
PMID:26885809
RGD:14398494
NCBI chr19:17,402,939...17,405,630
Ensembl chr19:17,402,939...17,405,630
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CCL4
C-C motif chemokine ligand 4
IAGP
DNA:SNP:3' utr:rs1719153 (human)
RGD
PMID:16773571
RGD:5683896
NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
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CCR5
C-C motif chemokine receptor 5
IAGP
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to
ClinVar
PMID:9742978 PMID:12610055 PMID:12815099 PMID:25741868
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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CCR5AS
CCR5 antisense RNA
IAGP
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to
ClinVar
PMID:9742978 PMID:12610055 PMID:12815099 PMID:25741868
NCBI chr 3:46,363,984...46,407,066
Ensembl chr 3:46,364,391...46,407,117
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CD209
CD209 molecule
disease_progression
IAGP
associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human)
RGD
PMID:17530998
RGD:39939010
NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564
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CD40LG
CD40 ligand
treatment
ISO
RGD
PMID:9499800
RGD:11344976
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
susceptibility
IAGP
DNA:polymorphism:exon:p.K751Q(human)
RGD
PMID:20127180
RGD:5688740
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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HLA-A
major histocompatibility complex, class I, A
susceptibility
IAGP
DNA:polymorphism: :HLA-A31
RGD
PMID:19030725
RGD:36049809
NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572
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IDO1
indoleamine 2,3-dioxygenase 1
IEP
associated with pulmonary tuberculosis;protein:increased expression:blood (human)
RGD
PMID:32369456
RGD:39939073
NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
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IFNA1
interferon alpha 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:9612607
NCBI chr 9:21,440,439...21,441,316
Ensembl chr 9:21,440,439...21,441,316
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IFNG
interferon gamma
IAGP EXP
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:9612607 PMID:12854077
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IFNL4
interferon lambda 4 (gene/pseudogene)
susceptibility
IAGP
DNA: (ss469415590) (human)
RGD
PMID:25658540
RGD:40886300
NCBI chr19:39,246,314...39,248,856
Ensembl chr19:39,246,314...39,248,856
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IGF2
insulin like growth factor 2
IEP
protein:decreased expression:plasma
RGD
PMID:11232005
RGD:5509969
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
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IL2
interleukin 2
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:9861562
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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KIR2DL1
killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1
severity
IAGP
DNA:missense mutation:cds: p.I47V (rs643347) (human)
RGD
PMID:29461980
RGD:38676267
NCBI chr19:54,769,793...54,784,322
Ensembl chr19:54,769,793...54,784,322
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KIR3DS1
killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1
disease_progression
IGI
DNA:CNV: (human)
RGD
PMID:12134147
RGD:150340564
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NCR1
natural cytotoxicity triggering receptor 1
IEP
protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD
PMID:27382604
RGD:40818276
NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140
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NCR3
natural cytotoxicity triggering receptor 3
IEP
protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD
PMID:27382604
RGD:40818276
NCBI chr 6:31,588,895...31,593,006
Ensembl chr 6:31,588,895...31,593,006
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TNF
tumor necrosis factor
IEP
RGD
PMID:8548330
RGD:12904035
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF1A
TNF receptor superfamily member 1A
IEP
RGD
PMID:8548330
RGD:12904035
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TNFRSF1B
TNF receptor superfamily member 1B
IEP
RGD
PMID:8548330
RGD:12904035
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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VDR
vitamin D receptor
IEA
GAD
PMID:15118671
RGD:1331525
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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CD163
CD163 molecule
ISO
protein:increased expression:lung (pig)
RGD
PMID:33287430
RGD:127345134
NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
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DEFB1
defensin beta 1
ISO
mRNA:increased expression:gingival epithelium
RGD
PMID:17076783
RGD:4892269
NCBI chr 8:6,870,592...6,877,936
Ensembl chr 8:6,870,592...6,877,936
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ADRB2
adrenoceptor beta 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
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EPO
erythropoietin
treatment
IDA
RGD
PMID:20818790
RGD:10395393
NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
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GC
GC vitamin D binding protein
IEP
associated with HIV Infections;protein:increased expression:cerebrospinal fluid:
RGD
PMID:17929958
RGD:5509882
NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041
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IL1B
interleukin 1 beta
ISO
protein:increased expression:neocortex
RGD
PMID:17678975
RGD:1626641
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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INSR
insulin receptor
severity
IEP
protein:increased expression:cerebrospinal fluid, plasma
RGD
PMID:22629383
RGD:10403033
NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
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IRS1
insulin receptor substrate 1
severity
IDA
protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte
RGD
PMID:22629383
RGD:10403033
NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820
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NEFL
neurofilament light chain
IEP
associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human) protein:increased expression:CSF (human)
RGD
PMID:30105502 PMID:27400930
RGD:127284876 , RGD:127284885
NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
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NPY
neuropeptide Y
severity
IEP
protein:increased expression:cerebrospinal fluid
RGD
PMID:8815163
RGD:10431910
NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
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OPRM1
opioid receptor mu 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr 6:154,010,496...154,246,867
Ensembl chr 6:154,010,496...154,246,867
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PDGFB
platelet derived growth factor subunit B
IEP
RGD
PMID:21368226
RGD:6482787
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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SLC6A4
solute carrier family 6 member 4
ISO
RGD
PMID:25404050
RGD:38676266
NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002
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AGTR1
angiotensin II receptor type 1
ISO
RGD
PMID:2
RGD:1303381
NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
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AGTR2
angiotensin II receptor type 2
ISO
RGD
PMID:2
RGD:1303381
NCBI chr X:116,170,744...116,174,974
Ensembl chr X:116,170,744...116,174,974
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EGF
epidermal growth factor
IEP
RGD
PMID:19357719
RGD:6906909
NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
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HP
haptoglobin
IEP
protein:increased expression:urine
RGD
PMID:19279121
RGD:11041816
NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
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MTOR
mechanistic target of rapamycin kinase
ISO IMP
RGD
PMID:23678040 PMID:23678040
RGD:7245474 , RGD:7245474
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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MYH9
myosin heavy chain 9
IEP
protein:decreased expression:glomerulus
RGD
PMID:22313957
RGD:6903274
NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
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NOTCH4
notch receptor 4
IEP
protein: increased expression: kidney
RGD
PMID:20706108
RGD:6480788
NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067
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NPHS1
NPHS1 adhesion molecule, nephrin
treatment
ISO
RGD
PMID:19188342 PMID:17229913
RGD:38596324 , RGD:38599164
NCBI chr19:35,862,915...35,869,357
Ensembl chr19:35,825,964...35,869,287
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KLRK1
killer cell lectin like receptor K1
treatment
IEP
RGD
PMID:23018378
RGD:39018554
NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874
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BCL2
BCL2 apoptosis regulator
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10861090
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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IL32
interleukin 32
IEP
mRNA:increased expression:zone of skin, blood serum (human)
RGD
PMID:29037857
RGD:150340744
NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
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CD4
CD4 molecule
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:9546790
NCBI chr12:6,789,528...6,820,799
Ensembl chr12:6,786,858...6,820,799
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TNFRSF8
TNF receptor superfamily member 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:9379333
NCBI chr 1:12,063,303...12,144,207
Ensembl chr 1:12,063,303...12,144,207
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CCL20
C-C motif chemokine ligand 20
IEP
protein:decreased expression:skin
RGD
PMID:17545018
RGD:7483603
NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
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CD8A
CD8 subunit alpha
HEP
mRNA:decreased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
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CTLA4
cytotoxic T-lymphocyte associated protein 4
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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FOXP3
forkhead box P3
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
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IFNA6
interferon alpha 6
treatment
IEP
RGD
PMID:25774455
RGD:36174028
NCBI chr 9:21,350,318...21,350,887
Ensembl chr 9:21,350,253...21,350,956
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IL10
interleukin 10
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL12B
interleukin 12B
treatment
IEP
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:7829774 , RGD:40400714
NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
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IL2
interleukin 2
IEP
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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IL21
interleukin 21
IEP
protein:decreased expression:blood serum (human)
RGD
PMID:31414711
RGD:127285371
NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
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IL4
interleukin 4
treatment
IEP
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:7829774 , RGD:40400714
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
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IL6
interleukin 6
IEP
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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KLRK1
killer cell lectin like receptor K1
IEP
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874
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MAPK8
mitogen-activated protein kinase 8
treatment
HEP
mRNA:increased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
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MYD88
MYD88 innate immune signal transduction adaptor
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
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NCR1
natural cytotoxicity triggering receptor 1
IEP
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140
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PDCD1
programmed cell death 1
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
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PTPN11
protein tyrosine phosphatase non-receptor type 11
IEP
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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PTPN6
protein tyrosine phosphatase non-receptor type 6
IEP
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
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SERPINF1
serpin family F member 1
disease_progression
IEP
mRNA, protein:decreased expression:skin of body (human)
RGD
PMID:23569025
RGD:27226706
NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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TGFB1
transforming growth factor beta 1
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TLR2
toll like receptor 2
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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TLR3
toll like receptor 3
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
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TLR4
toll like receptor 4
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TLR7
toll like receptor 7
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:12,867,072...12,890,361
Ensembl chr X:12,867,072...12,890,361
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TLR8
toll like receptor 8
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:12,906,620...12,923,169
Ensembl chr X:12,906,620...12,923,169
G
TLR9
toll like receptor 9
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
G
TNF
tumor necrosis factor
IEP
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF18
TNF receptor superfamily member 18
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:1,203,508...1,206,592
Ensembl chr 1:1,203,508...1,206,592
G
ANTXR2
ANTXR cell adhesion molecule 2
ISO
RGD
PMID:17054395
RGD:1599126
NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
G
ELANE
elastase, neutrophil expressed
ISO
protein:increased expression:plasma:
RGD
PMID:19049643
RGD:10450550
NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
G
IL1B
interleukin 1 beta
disease_progression
ISO
mRNA:decreased expression:multiple (mouse)
RGD
PMID:19075243
RGD:40902812
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
G
RNASEL
ribonuclease L
severity
ISO
RGD
PMID:19075243
RGD:40902812
NCBI chr 1:182,573,634...182,589,256
Ensembl chr 1:182,573,634...182,589,256
G
TNF
tumor necrosis factor
disease_progression
ISO
protein:decreased expression:multiple (mouse)
RGD
PMID:19075243
RGD:40902812
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
G
ACE
angiotensin I converting enzyme
IMP
associated with Cerebrovascular Accident
RGD
PMID:14990394
RGD:4140926
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
G
CXCL1
C-X-C motif chemokine ligand 1
ISO
RGD
PMID:19515386
RGD:4891456
NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
G
CXCL2
C-X-C motif chemokine ligand 2
ISO
RGD
PMID:19515386
RGD:4891456
NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
G
EDN1
endothelin 1
ISO
protein:increased secretion:plasma (rat)
RGD
PMID:19262391
RGD:4145069
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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IL1A
interleukin 1 alpha
ISO
protein:increased expression:Bronchoalveolar Lavage Fluid
RGD
PMID:18042282
RGD:4142854
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
G
NOS2
nitric oxide synthase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15607125
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
G
TNF
tumor necrosis factor
ISO
protein:increased expression:Bronchoalveolar Lavage Fluid
RGD
PMID:18042282
RGD:4142854
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
G
PECAM1
platelet and endothelial cell adhesion molecule 1
IEP
protein:decreased expression:serum (human)
RGD
PMID:25539588
RGD:11541121
NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776
G
CCL2
C-C motif chemokine ligand 2
IEP
associated with Febrile Neutropenia;protein:increased expression:serum (human)
RGD
PMID:22584776
RGD:11528568
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
G
CEBPB
CCAAT enhancer binding protein beta
ISO
associated with alcohol use disorder;mRNA:increased expression:bone marrow (mouse)
RGD
PMID:28784931
RGD:40903040
NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,830...50,192,668
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CFH
complement factor H
IDA
associated with Meningococcal Infections;
RGD
PMID:22104107
RGD:7364945
NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
G
CISH
cytokine inducible SH2 containing protein
susceptibility
IAGP EXP
ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:20484391
NCBI chr 3:50,606,489...50,611,774
Ensembl chr 3:50,606,489...50,611,774
G
CPB2
carboxypeptidase B2
ISO
protein:decreased activity:plasma
RGD
PMID:17911187
RGD:2313646
NCBI chr13:46,053,186...46,105,033
Ensembl chr13:46,053,186...46,105,033
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CRP
C-reactive protein
IEP
protein:increased expression:serum:
RGD
PMID:18443549
RGD:9491402
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
G
CSF2
colony stimulating factor 2
treatment
ISO
RGD
PMID:2192004
RGD:10449532
NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
G
FCGR2A
Fc gamma receptor IIa
IAGP
associated with Pneumonia;DNA:SNP: :p.H131R (rs1801274) (human)
RGD
PMID:21317643
RGD:5147986
NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
G
HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase
severity
IMP
RGD
PMID:11565076
RGD:5508478
NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001
G
ICAM1
intercellular adhesion molecule 1
ISO
mRNA:increased expression:lung,thymus,spleen:
RGD
PMID:24891762
RGD:11354979
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
G
IL17A
interleukin 17A
IEP
associated with Respiratory Distress Syndrome, Adult; protein:increased expression:serum
RGD
PMID:21062445
RGD:5128683
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
G
IL27
interleukin 27
HEP
protein:increased expression:blood serum (human)
RGD
PMID:26514771
RGD:126790515
NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
G
ITIH4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
protein:increased expression:liver, serum
RGD
PMID:33348064
RGD:40907057
NCBI chr 3:52,812,962...52,830,672
Ensembl chr 3:52,812,962...52,830,688
G
LOC129936806
ATAC-STARR-seq lymphoblastoid silent region 14400
IAGP
ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2
ClinVar
PMID:20484391
NCBI chr 3:50,611,643...50,612,122
G
MAPKAPK3
MAPK activated protein kinase 3
IAGP
ClinVar Annotator: match by term: Bacteremia, susceptibility to, 2
ClinVar
PMID:20484391
NCBI chr 3:50,611,520...50,649,291
Ensembl chr 3:50,611,520...50,649,291
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MBL2
mannose binding lectin 2
treatment
IAGP
associated with Multiple Myeloma:DNA:polymorphism:exon:
RGD
PMID:16953214
RGD:11530047
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
G
NOD2
nucleotide binding oligomerization domain containing 2
severity
IAGP
associated with Staphylococcal Infections;
RGD
PMID:24086711
RGD:13204726
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
G
PLAT
plasminogen activator, tissue type
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:1430592
NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
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PLAUR
plasminogen activator, urokinase receptor
severity
IEP
RGD
PMID:21332843
RGD:6483799
NCBI chr19:43,646,095...43,670,169
Ensembl chr19:43,646,095...43,670,547
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SERPINC1
serpin family C member 1
treatment
IDA
RGD
PMID:2679067
RGD:11035251
NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327
G
SOD2
superoxide dismutase 2
ISO
mRNA:increased expression:liver:
RGD
PMID:24253037
RGD:26923958
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
G
TIRAP
TIR domain containing adaptor protein
IAGP EXP
ClinVar Annotator: match by term: Bacteremia, susceptibility to, 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868
NCBI chr11:126,283,093...126,294,933
Ensembl chr11:126,282,497...126,298,845
G
TLR4
toll like receptor 4
susceptibility
IAGP
DNA:polymorphisms:cds:p.D299G, T399I (human)
RGD
PMID:18180796
RGD:4144194
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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MUC1
mucin 1, cell surface associated
ISO
RGD
PMID:10359313
RGD:7349379
NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
G
CXCL8
C-X-C motif chemokine ligand 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23661603
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
G
TLR2
toll like receptor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23661603
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
G
CXCL8
C-X-C motif chemokine ligand 8
susceptibility
IAGP
associated with Helicobacter Infections;DNA:SNP:promoter: -251T>A (rs4073) (human)
RGD
PMID:31522447
RGD:40925938
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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IL32
interleukin 32
exacerbates
IEP
associated with Helicobacter Infections;mRNA, protein:increased expression:stomach (human)
RGD
PMID:24633341
RGD:150340727
NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
G
JAK2
Janus kinase 2
IEP
protein:increased expression:stomach (human)
RGD
PMID:24718681
RGD:126928128
NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
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MIR146A
microRNA 146a
IEP
associated with Helicobacter Infections;miRNA:increased expression:mucosa of stomach (human)
RGD
PMID:30535468
RGD:126925144
NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450
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MIR375
microRNA 375
IEP
protein:decreased expression:stomach (human)
RGD
PMID:24718681
RGD:126928128
NCBI chr 2:219,001,645...219,001,708
Ensembl chr 2:219,001,645...219,001,708
G
TREM1
triggering receptor expressed on myeloid cells 1
IEP
mRNA,protein:increased expression:gastric epithelium
RGD
PMID:18321350
RGD:126928123
NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
G
IL1R1
interleukin 1 receptor type 1
ISO
associated with Serratia Infections;
RGD
PMID:23033384
RGD:8662876
NCBI chr 2:102,070,390...102,179,874
Ensembl chr 2:102,064,544...102,179,874
G
LY96
lymphocyte antigen 96
ISO
associated with Serratia Infections;
RGD
PMID:23033384
RGD:8662876
NCBI chr 8:73,991,392...74,099,857
Ensembl chr 8:73,991,392...74,029,079
G
MYD88
MYD88 innate immune signal transduction adaptor
ISO
associated with Staphylococcal Infections; associated with Serratia Infections;
RGD
PMID:16926427 PMID:23033384
RGD:8552819 , RGD:8662876
NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
G
TLR2
toll like receptor 2
ISO
associated with Staphylococcal Infections; associated with Pneumococcal Infections;
RGD
PMID:16926427 PMID:23841825
RGD:8552819 , RGD:8552886
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
G
TLR4
toll like receptor 4
ISO
associated with Pneumococcal Infections; associated with Serratia Infections;
RGD
PMID:23841825 PMID:23033384
RGD:8552886 , RGD:8662876
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TLR5
toll like receptor 5
ISO
associated with Serratia Infections;
RGD
PMID:23033384
RGD:8662876
NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292
G
CXCL8
C-X-C motif chemokine ligand 8
severity
IEP
protein:increased expression:nasal mucus (human)
RGD
PMID:24211414
RGD:40925940
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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MARCO
macrophage receptor with collagenous structure
disease_progression
ISO
association with Cryptococcal neoformans infection.
RGD
PMID:28298522
RGD:41412191
NCBI chr 2:118,942,194...118,994,660
Ensembl chr 2:118,942,194...118,994,660
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ACHE
acetylcholinesterase (Yt blood group)
IEP
RGD
PMID:21303225
RGD:5688130
NCBI chr 7:100,889,994...100,896,994
Ensembl chr 7:100,889,994...100,896,974
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BCHE
butyrylcholinesterase
IEP
protein:increased expression:blood
RGD
PMID:21303225
RGD:5688130
NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
G
BDNF
brain derived neurotrophic factor
ISO
mRNA, protein:increased expression:hippocampus mRNA:decreased expression:hippocampus,cerebral cortex:
RGD
PMID:16141791 PMID:22683802
RGD:5684920 , RGD:8655554
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
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CD46
CD46 molecule
IEP
RGD
PMID:16948860
RGD:6483465
NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
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CHI3L1
chitinase 3 like 1
severity
IEP
protein:increased secretion:cerebrospinal fluid (human)
RGD
PMID:11986266
RGD:4892662
NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
G
CRP
C-reactive protein
IEP
protein:increased expression:serum:
RGD
PMID:6122844
RGD:9491388
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
G
MMP9
matrix metallopeptidase 9
IDA
RGD
PMID:10430840
RGD:8547971
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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NGF
nerve growth factor
ISO
mRNA:decreased expression:hippocampus:
RGD
PMID:22683802
RGD:8655554
NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
G
NTRK2
neurotrophic receptor tyrosine kinase 2
ISO
mRNA, protein:increased expression:hippocampus
RGD
PMID:16141791
RGD:5684920
NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
G
PARP1
poly(ADP-ribose) polymerase 1
susceptibility
IAGP
DNA:snp:cds:p.V762A rs1136410 (human)
RGD
PMID:21651918
RGD:5683901
NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
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S100B
S100 calcium binding protein B
IEP
protein:increased expression:cerebrospinal fluid
RGD
PMID:15105355
RGD:5508818
NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208
G
TREM1
triggering receptor expressed on myeloid cells 1
disease_progression
IEP
RGD
PMID:16786330
RGD:126928126
NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
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ABCC1
ATP binding cassette subfamily C member 1 (ABCC1 blood group)
ISO
RGD
PMID:11238654
RGD:5128828
NCBI chr16:15,949,143...16,143,053
Ensembl chr16:15,949,138...16,143,257
G
ACE2
angiotensin converting enzyme 2
ISO
associated with Pseudomonas Infections;mRNA, protein:altered expression, altered activity:lung (mouse)
RGD
PMID:31645418
RGD:40818279
NCBI chr X:15,518,197...15,607,211
Ensembl chr X:15,494,566...15,607,236
G
AGER
advanced glycosylation end-product specific receptor
severity
ISO
RGD
PMID:21629785
RGD:6767559
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
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C3
complement C3
ISO
RGD
PMID:16014897
RGD:5129508
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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C3AR1
complement C3a receptor 1
ISO
RGD
PMID:16461429
RGD:5129690
NCBI chr12:8,056,844...8,066,359
Ensembl chr12:8,056,844...8,066,359
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C5
complement C5
ISO
RGD
PMID:17975174
RGD:5129707
NCBI chr 9:120,952,335...121,074,865
Ensembl chr 9:120,932,987...121,075,195
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CAT
catalase
ISO
RGD
PMID:19842849
RGD:5130748
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
G
CCL19
C-C motif chemokine ligand 19
ISO
mRNA, protein:increased expression:lung
RGD
PMID:20176793
RGD:5130918
NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276
G
CCL2
C-C motif chemokine ligand 2
ISO
RGD
PMID:20042590
RGD:4891443
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
G
CCL4
C-C motif chemokine ligand 4
ISO
RGD
PMID:20483921
RGD:5130905
NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
G
CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:20042590
RGD:4891443
NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
G
CCR7
C-C motif chemokine receptor 7
ISO
RGD
PMID:20176793
RGD:5130918
NCBI chr17:40,553,769...40,565,472
Ensembl chr17:40,553,769...40,565,472
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CD14
CD14 molecule
ISO
RGD
PMID:16210672
RGD:4144197
NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700
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CD40
CD40 molecule
ISO
RGD
PMID:20102413
RGD:5132268
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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CD80
CD80 molecule
ISO
RGD
PMID:20949109
RGD:4892562
NCBI chr 3:119,524,293...119,559,614
Ensembl chr 3:119,524,293...119,559,614
G
CHUK
component of inhibitor of nuclear factor kappa B kinase complex
ISO
RGD
PMID:18643924
RGD:5133701
NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596
G
CSF3
colony stimulating factor 3
disease_progression treatment
IEP IDA
associated with Peritonitis;
RGD
PMID:21373266 PMID:12352049
RGD:5133733 , RGD:11039437
NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
G
CSF3R
colony stimulating factor 3 receptor
disease_progression
ISO
RGD
PMID:17185469
RGD:5133739
NCBI chr 1:36,466,043...36,483,314
Ensembl chr 1:36,466,043...36,483,278
G
CXCL1
C-X-C motif chemokine ligand 1
ISO
RGD
PMID:21723409 PMID:11052817
RGD:5135062 , RGD:5135234
NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
G
CXCL10
C-X-C motif chemokine ligand 10
severity
ISO
RGD
PMID:16299319 PMID:15618188
RGD:5135458 , RGD:5135459
NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
G
CXCL11
C-X-C motif chemokine ligand 11
ISO
RGD
PMID:15618188
RGD:5135459
NCBI chr 4:76,033,682...76,036,070
Ensembl chr 4:76,033,682...76,041,415
G
CXCL2
C-X-C motif chemokine ligand 2
severity
ISO
RGD
PMID:19239431 PMID:11052817 PMID:21723409
RGD:5135065 , RGD:5135234 , RGD:5135062
NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
G
CXCL3
C-X-C motif chemokine ligand 3
ISO
RGD
PMID:11052817
RGD:5135234
NCBI chr 4:74,036,589...74,038,689
Ensembl chr 4:74,036,589...74,038,807
G
CXCL5
C-X-C motif chemokine ligand 5
ISO
RGD
PMID:19846873
RGD:4145490
NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677
G
CXCL6
C-X-C motif chemokine ligand 6
ISO
RGD
PMID:19846873
RGD:4145490
NCBI chr 4:73,836,678...73,838,760
Ensembl chr 4:73,836,640...73,849,064
G
CXCL9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:15618188
RGD:5135459
NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
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CXCR3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:15618188
RGD:5135459
NCBI chr X:71,615,919...71,618,511
Ensembl chr X:71,615,916...71,618,511
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CYP2J2
cytochrome P450 family 2 subfamily J member 2
ISO
protein:decreased expression:lung
RGD
PMID:14766666
RGD:1625385
NCBI chr 1:59,893,308...59,969,212
Ensembl chr 1:59,893,308...59,926,773
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DEFB4A
defensin beta 4A
IEP
protein:increased expression:plasma
RGD
PMID:10213993
RGD:4892266
NCBI chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716 Ensembl chr 8:7,894,677...7,896,716
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F2
coagulation factor II, thrombin
ISO
RGD
PMID:21897338
RGD:6893486
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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FCGR2A
Fc gamma receptor IIa
ISO
RGD
PMID:17975174
RGD:5129707
NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
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FOXP3
forkhead box P3
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
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GP1BA
glycoprotein Ib platelet subunit alpha
exacerbates
ISO
associated with Escherichia Coli Infections
RGD
PMID:27845343
RGD:42722624
NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
G
GRK2
G protein-coupled receptor kinase 2
IEP
mRNA:decreased expression:polymorphonuclear leukocyte
RGD
PMID:24465168
RGD:126848796
NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556
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ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:lung (mouse)
RGD
PMID:19846873
RGD:4145490
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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IFNAR1
interferon alpha and beta receptor subunit 1
severity
ISO
RGD
PMID:19487810 PMID:19487810
RGD:5490274 , RGD:5490274
NCBI chr21:33,324,395...33,359,864
Ensembl chr21:33,324,387...33,359,864
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IFNG
interferon gamma
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IL10
interleukin 10
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
G
IL15
interleukin 15
ISO
RGD
PMID:17911627
RGD:5000754
NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
G
IL17A
interleukin 17A
severity
ISO
RGD
PMID:18802100 PMID:25398094
RGD:4889153 , RGD:38501102
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL18
interleukin 18
ISO
RGD
PMID:17664259
RGD:4889913
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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IL1B
interleukin 1 beta
severity treatment
ISO IDA
associated with Agranulocytosis
RGD
PMID:18596024 PMID:25398094 PMID:7546648
RGD:4143205 , RGD:38501102 , RGD:10755357
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL1RL1
interleukin 1 receptor like 1
treatment
ISO
associated with Sepsis associated with Acinetobacter infectious disease
RGD
PMID:20959556 PMID:29508184
RGD:5144223 , RGD:40818077
NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037
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IL1RN
interleukin 1 receptor antagonist
ISO
RGD
PMID:18322242 PMID:18596024
RGD:4143206 , RGD:4143205
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL22
interleukin 22
ISO
RGD
PMID:21178015
RGD:5147404
NCBI chr12:68,248,242...68,253,604
Ensembl chr12:68,248,242...68,253,604
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IL6
interleukin 6
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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IRAK3
interleukin 1 receptor associated kinase 3
ISO
RGD
PMID:28120642 PMID:20439918
RGD:34888234 , RGD:36049799
NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
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IRF1
interferon regulatory factor 1
ISO
RGD
PMID:11854220
RGD:5128725
NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719
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IRF3
interferon regulatory factor 3
ISO
RGD
PMID:20720199
RGD:4891951
NCBI chr19:49,659,572...49,665,857
Ensembl chr19:49,659,569...49,665,875
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ITGB3
integrin subunit beta 3
ISO
protein:increased expression:lung, neutrophil
RGD
PMID:15114484
RGD:4993468
NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
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LEP
leptin
ISO
RGD
PMID:11937559
RGD:5128871
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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MAPK8
mitogen-activated protein kinase 8
severity
ISO
associated with Escherichia Coli Infections
RGD
PMID:22514650
RGD:150340681
NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
G
MBL2
mannose binding lectin 2
IAGP
Legionella Pneumonia; DNA:mutations:5' utr, exon:multiple (human)
RGD
PMID:18641104
RGD:4889477
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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MC1R
melanocortin 1 receptor
ISO
RGD
PMID:18304533
RGD:5687324
NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973
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MMP9
matrix metallopeptidase 9
ISO IEP
protein:increased expression:bronchoalveolar lavage fluid
RGD
PMID:17202364 PMID:19535150
RGD:5130727 , RGD:5129533
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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MPO
myeloperoxidase
IEP
protein:increased activity:bronchoalveolar lavage Fluid:
RGD
PMID:11269653
RGD:5130992
NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935
G
NOD1
nucleotide binding oligomerization domain containing 1
ISO
RGD
PMID:19360122
RGD:5131449
NCBI chr 7:30,424,527...30,478,784
Ensembl chr 7:30,424,527...30,478,784
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NOD2
nucleotide binding oligomerization domain containing 2
ISO
RGD
PMID:19360122
RGD:5131449
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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PDPN
podoplanin
ISO
protein:increased expression:lung
RGD
PMID:7864138
RGD:2292375
NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
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PECAM1
platelet and endothelial cell adhesion molecule 1
ISO
protein:decreased expression:lung
RGD
PMID:12524254
RGD:724645
NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776
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PGF
placental growth factor
ISO
protein:increased expression:plasma
RGD
PMID:16702604
RGD:6483601
NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
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PTEN
phosphatase and tensin homolog
ameliorates
ISO
myeloid knockout
RGD
PMID:21527775
RGD:127285594
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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RIPK3
receptor interacting serine/threonine kinase 3
ameliorates
ISO
RGD
PMID:28387756
RGD:127229944
NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
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RORC
RAR related orphan receptor C
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr 1:151,806,071...151,831,802
Ensembl chr 1:151,806,071...151,831,845
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SERPINE1
serpin family E member 1
severity
ISO
RGD
PMID:17032919
RGD:4144840
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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SFTPA1
surfactant protein A1
ISO
protein:increased expression:lung
RGD
PMID:12169586
RGD:4143464
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
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SFTPB
surfactant protein B
IEP ISO
associated with Cystic Fibrosis;protein:increased expression:lung
RGD
PMID:15271694 PMID:12169586
RGD:4143403 , RGD:4143464
NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
G
SFTPC
surfactant protein C
ISO
RGD
PMID:18566429 PMID:12169586
RGD:4144114 , RGD:4143464
NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
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SFTPD
surfactant protein D
ISO IEP
protein:increased expression:lung associated with Cystic Fibrosis;protein:decreased expression:lung
RGD
PMID:12169586 PMID:15271694
RGD:4143464 , RGD:4143403
NCBI chr10:79,937,740...79,982,383
Ensembl chr10:79,937,467...79,982,614
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STAT3
signal transducer and activator of transcription 3
ISO
RGD
PMID:18192501
RGD:6892945
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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TGFB1
transforming growth factor beta 1
severity
ISO
RGD
PMID:25398094
RGD:38501102
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TLR2
toll like receptor 2
ISO
RGD
PMID:18768871 PMID:19844782
RGD:4145337 , RGD:4889533
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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TLR4
toll like receptor 4
ISO
RGD
PMID:20650991 PMID:16210672
RGD:4144172 , RGD:4144197
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TLR5
toll like receptor 5
ISO
RGD
PMID:19801452
RGD:5129503
NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292
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TLR6
toll like receptor 6
ISO
RGD
PMID:19844782
RGD:4889533
NCBI chr 4:38,822,897...38,868,390
Ensembl chr 4:38,822,897...38,856,817
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TLR9
toll like receptor 9
ISO
RGD
PMID:20360853
RGD:5130719
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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TNF
tumor necrosis factor
disease_progression treatment severity
IEP IDA ISO
associated with Agranulocytosis
RGD
PMID:10650487 PMID:7546648 PMID:9310939 PMID:12958055
RGD:4143476 , RGD:10755357 , RGD:10450564 , RGD:10449451
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
protein:increased expression:serum (mouse)
RGD
PMID:19842848
RGD:5131429
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
protein:increased expression:serum (mouse)
RGD
PMID:19842848
RGD:5131429
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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TREM1
triggering receptor expressed on myeloid cells 1
severity ameliorates
IEP ISO
RGD
PMID:24465168 PMID:16960786 PMID:22996209
RGD:126848796 , RGD:127229902 , RGD:126925987
NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
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ZC3H12A
zinc finger CCCH-type containing 12A
ISO
associated with Pseudomonas Infections
RGD
PMID:29695841
RGD:39938967
NCBI chr 1:37,474,580...37,484,377
Ensembl chr 1:37,474,580...37,484,377
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TREM1
triggering receptor expressed on myeloid cells 1
treatment ameliorates exacerbates
IDA ISO
associated with bacterial pneumonia
RGD
PMID:21507332 PMID:16960786 PMID:17230441
RGD:126925982 , RGD:127229902 , RGD:126928125
NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
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MBL2
mannose binding lectin 2
IAGP
DNA:SNP:cds:
RGD
PMID:17470593
RGD:8693700
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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CLEC4M
C-type lectin domain family 4 member M
ISO
associated with Escherichia Coli Infections
RGD
PMID:31998663
RGD:41410804
NCBI chr19:7,763,243...7,769,605
Ensembl chr19:7,763,210...7,769,605
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CXCL2
C-X-C motif chemokine ligand 2
ISO
associated with Influenza
RGD
PMID:20065113
RGD:5134984
NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
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C3
complement C3
IEP
protein:increased expression:serum
RGD
PMID:3361150
RGD:11041575
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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CFB
complement factor B
IEP
protein:increased expression:serum
RGD
PMID:3361150
RGD:11041575
NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
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CXCL10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:14507644
RGD:5135450
NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
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CXCL9
C-X-C motif chemokine ligand 9
ISO
RGD
PMID:14507644
RGD:5135450
NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
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IL23A
interleukin 23 subunit alpha
ISO
RGD
PMID:16923792
RGD:39457937
NCBI chr12:56,338,884...56,340,410
Ensembl chr12:56,334,174...56,340,410
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IL4
interleukin 4
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:17387165
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
G
BIRC2
baculoviral IAP repeat containing 2
IEP
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
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BIRC3
baculoviral IAP repeat containing 3
IEP
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403
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CD163
CD163 molecule
treatment
IEP
RGD
PMID:32069255
RGD:149735531
NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
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CXCL8
C-X-C motif chemokine ligand 8
susceptibility
IAGP
DNA:SNP:promoter:g.-251A>T (human)
RGD
PMID:24076593
RGD:150523788
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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IFNG
interferon gamma
treatment
IEP
RGD
PMID:27916101
RGD:14974260
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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NPC1
NPC intracellular cholesterol transporter 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12183525
NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506
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PDE4A
phosphodiesterase 4A
ISO
mRNA:decreased expression:spleen
RGD
PMID:17397885
RGD:2302429
NCBI chr19:10,416,773...10,469,631
Ensembl chr19:10,416,773...10,469,630
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PRDX5
peroxiredoxin 5
ISO
mRNA:increased expression:spleen (mouse)
RGD
PMID:31196623
RGD:41404681
NCBI chr11:64,318,121...64,321,811
Ensembl chr11:64,318,121...64,321,811
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STING1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29203515 PMID:30894428
RGD:39128199 , RGD:39128234
NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
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SLC11A1
solute carrier family 11 member 1
susceptibility
IAGP EXP
ClinVar Annotator: match by term: Buruli ulcer, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:16395392
NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
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IL23A
interleukin 23 subunit alpha
ISO
RGD
PMID:27322540 PMID:27385977
RGD:39457954 , RGD:39458040
NCBI chr12:56,338,884...56,340,410
Ensembl chr12:56,334,174...56,340,410
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PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
treatment
ISO
RGD
PMID:23180818
RGD:38599193
NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
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SLC11A1
solute carrier family 11 member 1
ISO
RGD
PMID:18656410
RGD:5684976
NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
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CCR5
C-C motif chemokine receptor 5
ISO
RGD
PMID:16118671
RGD:8549760
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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CD40
CD40 molecule
ISO
RGD
PMID:20102413
RGD:5132268
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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FOXP3
forkhead box P3
treatment
IEP
RGD
PMID:30832593
RGD:38455984
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
G
ICAM1
intercellular adhesion molecule 1
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:19728926
RGD:4145507
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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IDO1
indoleamine 2,3-dioxygenase 1
treatment
IEP ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:30832593 PMID:31249813
RGD:38455984 , RGD:39938856
NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
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IFNG
interferon gamma
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19203382
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
G
IL13
interleukin 13
ISO
RGD
PMID:21573182
RGD:5684365
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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IL17A
interleukin 17A
ISO
associated with Bronchial Hyprractivity; mRNA:increased expression:lung
RGD
PMID:20228193 PMID:19812198
RGD:4888528 , RGD:4889101
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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MIR21
microRNA 21
ISO
associated with asthma;RNA:increased expression:lung
RGD
PMID:27448447
RGD:41404696
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
G
TGFB1
transforming growth factor beta 1
treatment
IEP
RGD
PMID:30832593
RGD:38455984
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TNF
tumor necrosis factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19203382
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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CD274
CD274 molecule
ISO
mRNA:increased expression:lung
RGD
PMID:26378990
RGD:41412180
NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
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PDCD1
programmed cell death 1
ISO
mRNA:increased expression:lung
RGD
PMID:26378990
RGD:41412180
NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
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PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
severity
ISO
RGD
PMID:29893841
RGD:40890270
NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
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CD1D
CD1d molecule
ISO
RGD
PMID:23999314
RGD:127345116
NCBI chr 1:158,178,030...158,186,427
Ensembl chr 1:158,178,030...158,186,427
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PLAC8
placenta associated 8
severity exacerbates
ISO
RGD
PMID:22238459 PMID:22238459
RGD:40925930 , RGD:40925930
NCBI chr 4:83,090,048...83,114,729
Ensembl chr 4:83,090,048...83,137,075
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PTEN
phosphatase and tensin homolog
ISO
associated with Experimental Allergic Asthma;mRNA:decreased expression:lung (mouse)
RGD
PMID:27448447
RGD:41404696
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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RIPK3
receptor interacting serine/threonine kinase 3
HDA
associated with lung cancer;DNA:hypomethylation:promoter (human)
RGD
PMID:31388311
RGD:127229924
NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
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HDC
histidine decarboxylase
ISO
RGD
PMID:14556983
RGD:5143922
NCBI chr15:50,241,947...50,265,726
Ensembl chr15:50,241,947...50,265,965
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LCN2
lipocalin 2
exacerbates
ISO
RGD
PMID:23317919
RGD:126781720
NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
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MMP14
matrix metallopeptidase 14
IEP
RGD
PMID:12526080
RGD:1582580
NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041
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MMP2
matrix metallopeptidase 2
IDA
RGD
PMID:12526080
RGD:1582580
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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DUOX2
dual oxidase 2
treatment
IEP
RGD
PMID:29133347
RGD:40925924
NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172
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MIR155
microRNA 155
IEP
miRNA:increased expression:duodenum
RGD
PMID:28319200
RGD:25314323
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
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ACYP2
acylphosphatase 2
IAGP
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chr 2:53,971,113...54,305,300
Ensembl chr 2:53,970,838...54,305,300
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IL1R1
interleukin 1 receptor type 1
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chronic multifocal osteomyelitis
CTD ClinVar
NCBI chr 2:102,070,390...102,179,874
Ensembl chr 2:102,064,544...102,179,874
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LOC110806263
TERT 5' regulatory region
IAGP
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
PMID:16890917
NCBI chr 5:1,294,628...1,298,988
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MLKL
mixed lineage kinase domain like pseudokinase
IAGP
ClinVar Annotator: match by term: Chronic multifocal osteomyelitis
ClinVar
NCBI chr16:74,671,855...74,700,862
Ensembl chr16:74,671,855...74,700,960
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MYNN
myoneurin
IAGP
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chr 3:169,773,396...169,789,716
Ensembl chr 3:169,773,396...169,789,716
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PSTPIP2
proline-serine-threonine phosphatase interacting protein 2
ISS
OMIM:259680
MouseDO
NCBI chr18:45,983,536...46,072,260
Ensembl chr18:45,983,536...46,072,272
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TERT
telomerase reverse transcriptase
IAGP
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
PMID:16890917 PMID:28492532
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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ZBTB46
zinc finger and BTB domain containing 46
IAGP
ClinVar Annotator: match by term: Chronic osteomyelitis
ClinVar
NCBI chr20:63,743,670...63,833,895
Ensembl chr20:63,743,668...63,832,038
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IL1F10
interleukin 1 family member 10
IAGP
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis
ClinVar
PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 PMID:28492532 More...
NCBI chr 2:113,067,970...113,075,843
Ensembl chr 2:113,067,970...113,075,843
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IL1RN
interleukin 1 receptor antagonist
IAGP EXP
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:9536098 PMID:12837270 PMID:16199547 PMID:16519819 PMID:17576681 PMID:19280228 PMID:19494218 PMID:19494219 PMID:19729864 PMID:20213597 PMID:20842532 PMID:21279638 PMID:21792839 PMID:22032624 PMID:22127713 PMID:22940634 PMID:23698098 PMID:24033266 PMID:24863340 PMID:25501066 PMID:25741868 PMID:26100510 PMID:28236224 PMID:28492532 PMID:32819369 More...
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL36RN
interleukin 36 receptor antagonist
IAGP
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis
ClinVar
PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 PMID:28492532 More...
NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382
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NFKBIA
NFKB inhibitor alpha
IAGP
ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis
ClinVar
NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
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IL1R1
interleukin 1 receptor type 1
IAGP
OMIM
NCBI chr 2:102,070,390...102,179,874
Ensembl chr 2:102,064,544...102,179,874
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IL23A
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:26455347
RGD:11097134
NCBI chr12:56,338,884...56,340,410
Ensembl chr12:56,334,174...56,340,410
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IL33
interleukin 33
treatment severity
ISO
RGD
PMID:32156806 PMID:32156806
RGD:40400894 , RGD:40400894
NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
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IL27
interleukin 27
IEP
associated with diarrhea;protein:increased expression:blood��serum, feces (human)
RGD
PMID:29140433
RGD:126790495
NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
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MARCO
macrophage receptor with collagenous structure
exacerbates
ISO
RGD
PMID:20810988
RGD:41412193
NCBI chr 2:118,942,194...118,994,660
Ensembl chr 2:118,942,194...118,994,660
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CCL2
C-C motif chemokine ligand 2
IAGP
ClinVar Annotator: match by term: Coronary artery disease, development of, in HIV
ClinVar
PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 PMID:25741868 More...
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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LOC126862536
BRD4-independent group 4 enhancer GRCh37_chr17:32578883-32580082
IAGP
ClinVar Annotator: match by term: Coronary artery disease, development of, in HIV
ClinVar
PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 PMID:25741868 More...
NCBI chr17:34,251,864...34,253,063
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IFNA1
interferon alpha 1
susceptibility
IAGP
DNA:SNP:promoter: -1823G>A (rs1332190)(human)
RGD
PMID:26694082
RGD:36174029
NCBI chr 9:21,440,439...21,441,316
Ensembl chr 9:21,440,439...21,441,316
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IFNA17
interferon alpha 17
susceptibility
IAGP
DNA:SNP,haplotype:cds: rs9298814 (p.Ile184Arg)(human)
RGD
PMID:26694082
RGD:36174029
NCBI chr 9:21,227,243...21,228,222
Ensembl chr 9:21,227,243...21,228,222
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HLA-B
major histocompatibility complex, class I, B
susceptibility
IAGP
DNA:polymorphism:cds:HLA-B*5401 (human)
RGD
PMID:9731015
RGD:1331522
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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MBL2
mannose binding lectin 2
susceptibility
IAGP
DNA:SNP:exon:p.G54D(rs1800450)(human)
RGD
PMID:15249448
RGD:8693755
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
IEP
protein:decreased expression:bronchiole epithelium
RGD
PMID:15364771
RGD:7364741
NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
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MUC5B
mucin 5B, oligomeric mucus/gel-forming
IAGP
DNA:insertion/deletion
RGD
PMID:15709052
RGD:7349353
NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172
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MUCL3
mucin like 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22152429
NCBI chr 6:30,940,973...30,954,221
Ensembl chr 6:30,934,523...30,954,221
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TAP2
transporter 2, ATP binding cassette subfamily B member
susceptibility
IAGP
DNA:polymorphisms:exon:
RGD
PMID:10323341
RGD:5147847
NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
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CASP3
caspase 3
treatment
ISO
RGD
PMID:26920733
RGD:13782281
NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
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CASP6
caspase 6
treatment
ISO
RGD
PMID:26920733
RGD:13782281
NCBI chr 4:109,664,388...109,709,767
Ensembl chr 4:109,688,622...109,703,583
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CASP7
caspase 7
treatment
ISO
RGD
PMID:26920733
RGD:13782281
NCBI chr10:113,679,194...113,730,909
Ensembl chr10:113,679,162...113,730,907
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CASP9
caspase 9
treatment
ISO
RGD
PMID:26920733
RGD:13782281
NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
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IL1A
interleukin 1 alpha
ISO
protein:increased expression:endometrium
RGD
PMID:25330821
RGD:11059518
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
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TREM1
triggering receptor expressed on myeloid cells 1
ameliorates
ISO
RGD
PMID:31365951
RGD:126928127
NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
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ABCB1
ATP binding cassette subfamily B member 1
ISO
mRNA:decreased expression:liver (rat)
RGD
PMID:26977098
RGD:11041000
NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
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ABCB11
ATP binding cassette subfamily B member 11
ISO
RGD
PMID:9828229
RGD:1598596
NCBI chr 2:168,915,390...169,031,324
Ensembl chr 2:168,915,498...169,031,324
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ABCC2
ATP binding cassette subfamily C member 2
ISO
RGD
PMID:16572733
RGD:1598611
NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594
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ABCC8
ATP binding cassette subfamily C member 8
ISO
RGD
PMID:17285300
RGD:2301914
NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
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ACE
angiotensin I converting enzyme
ISO
associated with Hemorrhage;protein:decreased activity:plasma (rat)
RGD
PMID:3028670
RGD:8142370
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ACHE
acetylcholinesterase (Yt blood group)
IDA
RGD
PMID:17657467
RGD:5688055
NCBI chr 7:100,889,994...100,896,994
Ensembl chr 7:100,889,994...100,896,974
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ACTC1
actin alpha cardiac muscle 1
ISO
RGD
PMID:11680626
RGD:1598729
NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589
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ADAMTS1
ADAM metallopeptidase with thrombospondin type 1 motif 1
ISO
protein:increased expression:plasma, spleen
RGD
PMID:23025351
RGD:9681752
NCBI chr21:26,835,755...26,845,409
Ensembl chr21:26,835,755...26,845,409
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ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
associated with Obesity
RGD
PMID:23838384
RGD:8695926
NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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ADIPOR2
adiponectin receptor 2
severity
ISO
associated with obesity;mRNA:decreased expression:liver (rat)
RGD
PMID:23838384
RGD:8695926
NCBI chr12:1,691,070...1,788,674
Ensembl chr12:1,688,574...1,788,674
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ADRA2A
adrenoceptor alpha 2A
onset
ISO
mRNA:increased expression:spleen
RGD
PMID:20302880
RGD:6480487
NCBI chr10:111,077,029...111,080,907
Ensembl chr10:111,077,029...111,080,907
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AGTR1
angiotensin II receptor type 1
ISO
protein:increased expression:kidney
RGD
PMID:16725227
RGD:6903849
NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
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AGTR2
angiotensin II receptor type 2
ISO
protein:decreased expression:kidney
RGD
PMID:16725227
RGD:6903849
NCBI chr X:116,170,744...116,174,974
Ensembl chr X:116,170,744...116,174,974
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AHR
aryl hydrocarbon receptor
severity
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
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AKT1
AKT serine/threonine kinase 1
ISO
RGD
PMID:22824368
RGD:38676479
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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ALDOA
aldolase, fructose-bisphosphate A
ISO
RGD
PMID:16930621
RGD:1599054
NCBI chr16:30,053,151...30,070,414
Ensembl chr16:30,053,090...30,070,420 Ensembl chr16:30,053,090...30,070,420 Ensembl chr16:30,053,090...30,070,420
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ALDOA
aldolase, fructose-bisphosphate A
ISO
RGD
PMID:16930621
RGD:1599054
NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457
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ALOX5
arachidonate 5-lipoxygenase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15328337
NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119
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APOA1
apolipoprotein A1
treatment
IDA ISO
RGD
PMID:18593575 PMID:23227448
RGD:7241573 , RGD:7241868
NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
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APOB
apolipoprotein B
ISO
RGD
PMID:16719989
RGD:1599165
NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
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APOE
apolipoprotein E
IDA
rat model treated with human protein
RGD
PMID:9153287
RGD:6904216
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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ASL
argininosuccinate lyase
ISO
RGD
PMID:10652239
RGD:1599265
NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697
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ASS1
argininosuccinate synthase 1
ISO
RGD
PMID:10652239
RGD:1599265
NCBI chr 9:130,444,707...130,501,274
Ensembl chr 9:130,444,961...130,501,274
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ATF2
activating transcription factor 2
treatment
ISO
protein:increased expression, increased activity:small intestine mucosa
RGD
PMID:21641970 PMID:24312512
RGD:5135029 , RGD:10047418
NCBI chr 2:175,072,259...175,168,203
Ensembl chr 2:175,072,250...175,168,382
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ATP5F1A
ATP synthase F1 subunit alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16741687
NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334
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BAX
BCL2 associated X, apoptosis regulator
ISO
mRNA:increased expression:diaphragm
RGD
PMID:23940949
RGD:10054120
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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BCHE
butyrylcholinesterase
IDA
RGD
PMID:17657467
RGD:5688055
NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
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BCL2
BCL2 apoptosis regulator
ISO
mRNA:decreased expression:diaphragm
RGD
PMID:23940949
RGD:10054120
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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C5AR1
complement C5a receptor 1
ISO
mRNA:increased expression:lung
RGD
PMID:9272704
RGD:70679
NCBI chr19:47,307,477...47,322,066
Ensembl chr19:47,290,023...47,322,066
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CASP1
caspase 1
ISO
RGD
PMID:17384935
RGD:2315892
NCBI chr11:105,025,443...105,036,686
Ensembl chr11:105,025,397...105,035,250
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CASP3
caspase 3
ISO
mRNA:increased expression:diaphragm
RGD
PMID:23940949
RGD:10054120
NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
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CASP7
caspase 7
ISO
RGD
PMID:19168786
RGD:5684539
NCBI chr10:113,679,194...113,730,909
Ensembl chr10:113,679,162...113,730,907
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CASP9
caspase 9
treatment
ISO
RGD
PMID:23214195
RGD:10400903
NCBI chr 1:15,491,401...15,524,912
Ensembl chr 1:15,490,832...15,526,534
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CBS
cystathionine beta-synthase
severity
ISO
mRNA:increased expression:liver (rat) Protein:increased expression:spleen, lung (mouse)
RGD
PMID:27748832 PMID:16100527 PMID:24702258 PMID:27748832
RGD:40903019 , RGD:40903049 , RGD:40903035 , RGD:40903019
NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
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CCL2
C-C motif chemokine ligand 2
ISO
protein:increased expression:plasma
RGD
PMID:19060786
RGD:2307004
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CCL5
C-C motif chemokine ligand 5
ISO
protein:increased expression:plasma
RGD
PMID:16215387
RGD:2307171
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CCR1
C-C motif chemokine receptor 1
ISO
RGD
PMID:17016504
RGD:5688178
NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
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CD14
CD14 molecule
ISO
protein:increased expression:liver, endothelial cell of sinusoid
RGD
PMID:12046090
RGD:724637
NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700
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CD40
CD40 molecule
ISO
protein:decreased nitrosylation:macrophage
RGD
PMID:20473113
RGD:5490974
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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CEBPB
CCAAT enhancer binding protein beta
treatment
ISO
RGD
PMID:15192048 PMID:14659593
RGD:1625687 , RGD:40903034
NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,830...50,192,668
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CPS1
carbamoyl-phosphate synthase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16741687
NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
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CS
citrate synthase
ISO
protein:increased expression:gastrocnemius
RGD
PMID:25674200
RGD:329337350
NCBI chr12:56,271,699...56,300,330
Ensembl chr12:56,271,699...56,300,391
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CSF3
colony stimulating factor 3
treatment
IDA
RGD
PMID:9514298
RGD:11039535
NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
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CX3CL1
C-X3-C motif chemokine ligand 1
ISO
protein:increased expression:atrium endocardium
RGD
PMID:19282612
RGD:4891965
NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
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CXCL1
C-X-C motif chemokine ligand 1
ISO
mRNA:increased expression:multiple organs
RGD
PMID:9766630
RGD:5135254
NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
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CXCL2
C-X-C motif chemokine ligand 2
ISO
mRNA:increased expression:multiple organs
RGD
PMID:9766630
RGD:5135254
NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
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CXCL5
C-X-C motif chemokine ligand 5
ISO
mRNA:increased expression:multiple organs
RGD
PMID:9766630
RGD:5135254
NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677
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CXCL6
C-X-C motif chemokine ligand 6
ISO
mRNA:increased expression:multiple organs
RGD
PMID:9766630
RGD:5135254
NCBI chr 4:73,836,678...73,838,760
Ensembl chr 4:73,836,640...73,849,064
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EDN1
endothelin 1
ISO
mRNA, protein:increased expression:liver (rat)
RGD
PMID:11206318
RGD:8662297
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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EP300
E1A binding protein p300
ISO
associated with Kidney Reperfusion Injury; protein:altered localization:kidney (rat)
RGD
PMID:23936185
RGD:7257563
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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EPHX2
epoxide hydrolase 2
ISO
RGD
PMID:19154430
RGD:5688360
NCBI chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,545,564
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EPO
erythropoietin
treatment
IDA
RGD
PMID:23214195
RGD:10400903
NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
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F12
coagulation factor XII
ISO
RGD
PMID:11092686
RGD:7394782
NCBI chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,133...177,416,583
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F2
coagulation factor II, thrombin
treatment severity
ISO IEP
associated with liver cirrhosis;protein:increased expression:blood plasma (human) associated with liver cirrhosis;protein:increased expression:plasma (human)
RGD
PMID:21396682 PMID:10604885 PMID:7615203 PMID:10887118 PMID:9863491 PMID:25396762 PMID:22227956 PMID:20519137 More...
RGD:5147765 , RGD:40818436 , RGD:14974253 , RGD:40818427 , RGD:14401592 , RGD:10449434 , RGD:6893482 , RGD:5147779
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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F3
coagulation factor III, tissue factor
treatment
ISO IMP
associated with Protein C Deficiency
RGD
PMID:21396682 PMID:20858853 PMID:8956768
RGD:5147765 , RGD:11341685 , RGD:11340208
NCBI chr 1:94,529,173...94,541,759
Ensembl chr 1:94,529,173...94,541,759
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F5
coagulation factor V
ISO
RGD
PMID:11092686
RGD:7394782
NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588
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F7
coagulation factor VII
treatment
ISO
RGD
PMID:11092686 PMID:16378835
RGD:7394782 , RGD:11041650
NCBI chr13:113,105,788...113,120,685
Ensembl chr13:113,105,788...113,120,685
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F8
coagulation factor VIII
ISO
RGD
PMID:11092686
RGD:7394782
NCBI chr X:154,835,792...155,022,723
Ensembl chr X:154,835,788...155,026,940
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FAS
Fas cell surface death receptor
ISO
mRNA, protein:increased expression:spleen (rat)
RGD
PMID:20428798
RGD:8662930
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FGA
fibrinogen alpha chain
treatment
ISO
RGD
PMID:19295478
RGD:11040925
NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742
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FOXP3
forkhead box P3
ISO
protein:increased expression:intestinal mucosa
RGD
PMID:19998507
RGD:38455980
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
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GCH1
GTP cyclohydrolase 1
treatment
ISO
mRNA:increased expression:lung associated with liver cirrhosis
RGD
PMID:9388472 PMID:16845913 PMID:14647062
RGD:329961576 , RGD:401793756 , RGD:401700399
NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826
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GFER
growth factor, augmenter of liver regeneration
ISO
RGD
PMID:23073658
RGD:9685733
NCBI chr16:1,984,193...1,987,749
Ensembl chr16:1,984,193...1,987,749
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GHR
growth hormone receptor
ISO
mRNA:decreased expression:liver
RGD
PMID:12654216 PMID:12217886
RGD:2307380 , RGD:625688
NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
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GPT
glutamic--pyruvic transaminase
treatment
ISO
RGD
PMID:25514429
RGD:401717525
NCBI chr 8:144,503,068...144,507,172
Ensembl chr 8:144,502,973...144,507,174
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GSR
glutathione-disulfide reductase
treatment
ISO
RGD
PMID:25469663
RGD:10401928
NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846
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HMGB1
high mobility group box 1
ISO
protein:increased expression:heart, serum
RGD
PMID:18503231
RGD:10402065
NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
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HMOX1
heme oxygenase 1
treatment
ISO
RGD
PMID:21396999
RGD:10755715
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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HSF1
heat shock transcription factor 1
treatment
ISO
RGD
PMID:25571843
RGD:10402404
NCBI chr 8:144,291,604...144,314,720
Ensembl chr 8:144,291,591...144,314,720
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HSPA9
heat shock protein family A (Hsp70) member 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16741687
NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675
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HSPD1
heat shock protein family D (Hsp60) member 1
ISO EXP
mRNA, protein:increased expression:medulla oblongata CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16741687 PMID:16675490
RGD:1624232
NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
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ICAM1
intercellular adhesion molecule 1
ISO
protein:increased expression:lung (rat)
RGD
PMID:19776691
RGD:4145502
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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IDO1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:24930766 PMID:28077574
RGD:39939032 , RGD:39939117
NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
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IDO2
indoleamine 2,3-dioxygenase 2
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chr 8:39,934,651...40,016,392
Ensembl chr 8:39,934,614...40,016,392
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IFNG
interferon gamma
ISO
protein:increased expression:serum:
RGD
PMID:9195172
RGD:10755747
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IGF1
insulin like growth factor 1
ISO
mRNA, protein:decreased expression:liver, serum
RGD
PMID:18492809 PMID:12217886
RGD:10402757 , RGD:625688
NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
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IGFALS
insulin like growth factor binding protein acid labile subunit
ISO
RGD
PMID:12217886
RGD:625688
NCBI chr16:1,790,413...1,794,908
Ensembl chr16:1,790,413...1,794,971
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IGFBP1
insulin like growth factor binding protein 1
ISO
RGD
PMID:12217886
RGD:625688
NCBI chr 7:45,888,488...45,893,660
Ensembl chr 7:45,888,360...45,893,660
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IGFBP3
insulin like growth factor binding protein 3
ISO
mRNA, protein:decreased expression:liver, serum
RGD
PMID:18492809
RGD:10402757
NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
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IGFBP5
insulin like growth factor binding protein 5
ISO
RGD
PMID:12217886
RGD:625688
NCBI chr 2:216,672,105...216,695,549
Ensembl chr 2:216,672,105...216,695,549
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IL10
interleukin 10
treatment
ISO
RGD
PMID:28664613 PMID:27943364
RGD:14975137 , RGD:14975170
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL13
interleukin 13
treatment
IDA
RGD
PMID:10674721
RGD:8549626
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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IL1A
interleukin 1 alpha
ISO
protein:increased expression:plasma
RGD
PMID:9636192 PMID:22426124
RGD:6907109 , RGD:7794786
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
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IL1B
interleukin 1 beta
ISO
protein:increased expression:plasma
RGD
PMID:17201737
RGD:1626625
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL1RN
interleukin 1 receptor antagonist
treatment
ISO IDA
mRNA:increased expression:lung, spleen, liver (rat)
RGD
PMID:1385928 PMID:8855299
RGD:8551846 , RGD:11522760
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL32
interleukin 32
ameliorates
IMP
human gene in a mouse model
RGD
PMID:24743568
RGD:150340731
NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
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IL6
interleukin 6
ISO
associated with Diabetes Mellitus, Experimental; Protein:increased expression:extracellular space (rat) protein:increased expression:serum (rat)
RGD
PMID:19449282 PMID:22227956 PMID:21396682
RGD:2307179 , RGD:6893482 , RGD:5147765
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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IRAK3
interleukin 1 receptor associated kinase 3
IEP
mRNA, protein:increased expression:blood (human)
RGD
PMID:17982103
RGD:36049802
NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
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IRS1
insulin receptor substrate 1
ISO
protein:increased tyrosine nitration, decreased tyrosine phosphorylation:skeletal muscle
RGD
PMID:21206533
RGD:6483008
NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820
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ITGA2B
integrin subunit alpha 2b
ISO
RGD
PMID:15280099
RGD:2316360
NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649
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ITGB3
integrin subunit beta 3
ISO
RGD
PMID:15280099
RGD:2316360
NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743
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KEAP1
kelch like ECH associated protein 1
ISO
RGD
PMID:22609006
RGD:6892951
NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558
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LBP
lipopolysaccharide binding protein
treatment
ISO IMP
mRNA:increased expression:hepatocyte
RGD
PMID:8418776 PMID:8593028 PMID:16307218
RGD:9685191 , RGD:9685196 , RGD:9685193
NCBI chr20:38,346,482...38,377,013
Ensembl chr20:38,346,482...38,377,013
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LCN2
lipocalin 2
ISO
mRNA:increased expression:brain,liver
RGD
PMID:21943033
RGD:126779582
NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
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MAP2
microtubule associated protein 2
ISO
mRNA, protein:decreased expression:neuron
RGD
PMID:21421895
RGD:6483086
NCBI chr 2:209,424,047...209,734,112
Ensembl chr 2:209,424,047...209,734,147
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MAPK14
mitogen-activated protein kinase 14
treatment
ISO
protein:increased activity:small intestine mucosa
RGD
PMID:21641970 PMID:24312512
RGD:5135029 , RGD:10047418
NCBI chr 6:36,027,808...36,124,214
Ensembl chr 6:36,027,782...36,111,236
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MAPK8
mitogen-activated protein kinase 8
ISO
protein:increased phophorylation:hippocampus (rat)
RGD
PMID:12207162
RGD:150340687
NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
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MC4R
melanocortin 4 receptor
ISO
mRNA:increased expression:paraventricular nucleus (rat)
RGD
PMID:21343543
RGD:6484214
NCBI chr18:60,371,062...60,372,775
Ensembl chr18:60,371,062...60,372,775
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MIF
macrophage migration inhibitory factor
ISO
protein:increased expression:plasma
RGD
PMID:16601957
RGD:1641983
NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
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MIR146A
microRNA 146a
treatment
ISO
miRNA:increased expression:spleen (mouse)
RGD
PMID:30867482
RGD:34888227
NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450
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MIR155
microRNA 155
treatment
ISO
associated with familial hyperlipidemia
RGD
PMID:28970282 PMID:28264607 PMID:29079998 PMID:29979224
RGD:21079445 , RGD:24922204 , RGD:21081539 , RGD:21081538
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
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MME
membrane metalloendopeptidase
severity
ISO
RGD
PMID:11078421
RGD:13801040
NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704
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MMP3
matrix metallopeptidase 3
ISO
RGD
PMID:17083784
RGD:2290426
NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
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MT2A
metallothionein 2A
ISO
mRNA:increased expression:liver (rat)
RGD
PMID:22100509
RGD:6483852
NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
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MT3
metallothionein 3
ISO
RGD
PMID:12135776
RGD:10412330
NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088
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MUC2
mucin 2, oligomeric mucus/gel-forming
ISO
RGD
PMID:19099858
RGD:7349370
NCBI chr11:1,074,874...1,110,508
Ensembl chr11:1,074,875...1,110,511
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MYH6
myosin heavy chain 6
ISO
RGD
PMID:7874842
RGD:12792976
NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273
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MYH7
myosin heavy chain 7
ISO
RGD
PMID:7874842
RGD:12792976
NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660
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NFE2L2
NFE2 like bZIP transcription factor 2
treatment
ISO
RGD
PMID:26646455
RGD:42722616
NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
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NFKBIA
NFKB inhibitor alpha
exacerbates treatment
ISO
RGD
PMID:19098124 PMID:10229101
RGD:126908017 , RGD:126928139
NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
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NOS2
nitric oxide synthase 2
ISO EXP
mRNA, protein:increased expression:intestine CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12620498 PMID:16787348 PMID:20519137
RGD:4891470 , RGD:5147779
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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NOS3
nitric oxide synthase 3
ISO
protein:increased expression:aorta (rat)
RGD
PMID:10462376
RGD:7794732
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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NPY
neuropeptide Y
treatment
ISO
RGD
PMID:15342191
RGD:1580787
NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
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NR3C1
nuclear receptor subfamily 3 group C member 1
ISO
RGD
PMID:15640646
RGD:4892561
NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
G
OTC
ornithine transcarbamylase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16741687
NCBI chr X:38,327,684...38,422,928
Ensembl chr X:38,327,598...38,422,908
G
PCK1
phosphoenolpyruvate carboxykinase 1
ISO
RGD
PMID:19268478 PMID:12217886
RGD:10427879 , RGD:625688
NCBI chr20:57,561,110...57,568,121
Ensembl chr20:57,561,080...57,568,121
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PCK2
phosphoenolpyruvate carboxykinase 2, mitochondrial
ISO
mRNA,protein:decreased expression,decreased activity:liver:
RGD
PMID:19268478
RGD:10427879
NCBI chr14:24,094,171...24,104,125
Ensembl chr14:24,094,053...24,110,598
G
PCSK1
proprotein convertase subtilisin/kexin type 1
ISO
RGD
PMID:16337011
RGD:6483567
NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143
G
PCSK2
proprotein convertase subtilisin/kexin type 2
ISO
RGD
PMID:16337011
RGD:6483567
NCBI chr20:17,226,107...17,484,578
Ensembl chr20:17,226,107...17,484,578
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PECAM1
platelet and endothelial cell adhesion molecule 1
ISO
RGD
PMID:22119535
RGD:6771174
NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776
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PF4
platelet factor 4
treatment
ISO
RGD
PMID:20601223
RGD:329901905
NCBI chr 4:73,980,811...73,982,124
Ensembl chr 4:73,980,811...73,982,027
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PGF
placental growth factor
ISO
protein:increased expression:multiple
RGD
PMID:16702604
RGD:6483601
NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
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PLA2G7
phospholipase A2 group VII
ISO
protein:increased expression: :
RGD
PMID:10748027
RGD:7248791
NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693
G
PLAT
plasminogen activator, tissue type
treatment
IDA
RGD
PMID:9091588
RGD:11541073
NCBI chr 8:42,174,718...42,207,565
Ensembl chr 8:42,174,718...42,207,709
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PPARG
peroxisome proliferator activated receptor gamma
ISO
protein:increased expression:small intestine mucosa
RGD
PMID:21641970
RGD:5135029
NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
G
PRKAA1
protein kinase AMP-activated catalytic subunit alpha 1
ISO
mRNA:decreased expression:epididymal fat pad
RGD
PMID:20421294
RGD:6484543
NCBI chr 5:40,759,389...40,798,374
Ensembl chr 5:40,759,389...40,798,374
G
PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
protein:increased expression:liver, mitochondrion (mouse)
RGD
PMID:28615325
RGD:13432559
NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
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PROC
protein C, inactivator of coagulation factors Va and VIIIa
treatment
IDA
RGD
PMID:18205901 PMID:23170801
RGD:11100030 , RGD:11100034
NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
G
PTAFR
platelet activating factor receptor
treatment
ISO
RGD
PMID:2178565
RGD:10041063
NCBI chr 1:28,147,166...28,193,856
Ensembl chr 1:28,147,166...28,193,936
G
PTGER4
prostaglandin E receptor 4
ISO
protein:increased expression:paraventricular hypothalamic nucleus parvicellular division (rat)
RGD
PMID:11058222
RGD:10043329
NCBI chr 5:40,679,915...40,746,800
Ensembl chr 5:40,679,915...40,693,735
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PTGIS
prostaglandin I2 synthase
treatment
ISO
RGD
PMID:11076704
RGD:401960076
NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
G
PTGS2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:21641970
RGD:5135029
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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REN
renin
ISO
protein:increased activity:blood plasma (mouse) protein:increased activity:blood plasma (rat)
RGD
PMID:30027346 PMID:16512638
RGD:125097481 , RGD:125097499
NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
G
SERPINC1
serpin family C member 1
treatment
IDA ISO
RGD
PMID:16457847 PMID:21396682 PMID:20519137 PMID:15995859
RGD:1599326 , RGD:5147765 , RGD:5147779 , RGD:1599332
NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327
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SERPINE1
serpin family E member 1
treatment
ISO
RGD
PMID:21396682 PMID:25396762
RGD:5147765 , RGD:10449434
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
G
SERPINF1
serpin family F member 1
IEP
protein:increased expression:plasma (human)
RGD
PMID:12386642
RGD:36174005
NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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SERPING1
serpin family G member 1
treatment
IDA
RGD
PMID:18652771
RGD:8661643
NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171
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SLC18A3
solute carrier family 18 member A3
ISO
protein:decreased expression:parietal cortex
RGD
PMID:17306796
RGD:5686693
NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720
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SLC22A1
solute carrier family 22 member 1
treatment
ISO
RGD
PMID:18313662
RGD:7243881
NCBI chr 6:160,121,815...160,158,718
Ensembl chr 6:160,121,815...160,158,718
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SLC22A2
solute carrier family 22 member 2
treatment
ISO
RGD
PMID:18313662
RGD:7243881
NCBI chr 6:160,216,755...160,258,821
Ensembl chr 6:160,171,061...160,277,638
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SLC38A3
solute carrier family 38 member 3
ISO
RGD
PMID:20036385
RGD:9999227
NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486
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SLC38A5
solute carrier family 38 member 5
ISO
RGD
PMID:20036385
RGD:9999227
NCBI chr X:48,458,544...48,470,260
Ensembl chr X:48,458,537...48,470,260
G
SLC7A5
solute carrier family 7 member 5
ISO
RGD
PMID:26337286
RGD:151361133
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,023...87,869,507
G
SLPI
secretory leukocyte peptidase inhibitor
ISO
RGD
PMID:25466948
RGD:9999425
NCBI chr20:45,252,239...45,254,564
Ensembl chr20:45,252,239...45,254,564
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SOCS1
suppressor of cytokine signaling 1
ISO
mRNA:increased expression:liver, skeletal muscle
RGD
PMID:15169905
RGD:2298923
NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
G
SOCS3
suppressor of cytokine signaling 3
ISO
mRNA:increased expression:liver, skeletal muscle
RGD
PMID:15169905 PMID:12217886
RGD:2298923 , RGD:625688
NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077
G
SOD2
superoxide dismutase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16741687
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
G
SPARC
secreted protein acidic and cysteine rich
ISO
mRNA, protein:decreased expression:kidney
RGD
PMID:10703670
RGD:2300026
NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975
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STAT5B
signal transducer and activator of transcription 5B
ISO
protein:decreased tyrosine phosphorylation:liver
RGD
PMID:17327369
RGD:1601383
NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633
G
TBXA2R
thromboxane A2 receptor
ISO
RGD
PMID:15647606 PMID:2580129
RGD:1601450 , RGD:11059531
NCBI chr19:3,594,507...3,606,875
Ensembl chr19:3,594,507...3,606,875
G
TBXAS1
thromboxane A synthase 1
ISO
RGD
PMID:15647606
RGD:1601450
NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325
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TDO2
tryptophan 2,3-dioxygenase
severity
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chr 4:155,903,696...155,920,406
Ensembl chr 4:155,854,738...155,920,406
G
TFPI
tissue factor pathway inhibitor
treatment
IDA
RGD
PMID:17537762
RGD:11062086
NCBI chr 2:187,464,230...187,554,435
Ensembl chr 2:187,464,230...187,565,760
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THBD
thrombomodulin
ISO IDA
mRNA:decreased expression:endothelial cell
RGD
PMID:12611420 PMID:20348393 PMID:19487933
RGD:1601652 , RGD:5685037 , RGD:5684988
NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
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TIMP3
TIMP metallopeptidase inhibitor 3
ISO
RGD
PMID:17083784
RGD:2290426
NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041
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TLR2
toll like receptor 2
treatment
ISO
RGD
PMID:22172266
RGD:7241094
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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TLR4
toll like receptor 4
treatment disease_progression
ISO
mRNA:increased expression:liver:
RGD
PMID:22172266 PMID:23977376 PMID:23977376
RGD:7241094 , RGD:14697731 , RGD:14697731
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TNF
tumor necrosis factor
treatment
ISO
protein:increased expression:plasma XCO:0000822 JTE-607 associated with liver cirrhosis protein:increased expression:plasma (rat)
RGD
PMID:17324147 PMID:10493164 PMID:15242491 PMID:18078960 PMID:8283134 PMID:12813371 PMID:21396682 PMID:20519137 More...
RGD:4891465 , RGD:40903016 , RGD:38501090 , RGD:15023464 , RGD:14995443 , RGD:14995427 , RGD:5147765 , RGD:5147779
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TREM1
triggering receptor expressed on myeloid cells 1
treatment
ISO IEP
RGD
PMID:21507332 PMID:15585833
RGD:126925982 , RGD:126928122
NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
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VCAM1
vascular cell adhesion molecule 1
ISO
mRNA:increased expression:brain:
RGD
PMID:20061033
RGD:7240511
NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
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VWF
von Willebrand factor
ISO
protein:increased expression:endothelial cell:
RGD
PMID:2650559
RGD:11079230
NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770
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GCH1
GTP cyclohydrolase 1
treatment
ISO
RGD
PMID:8602831
RGD:329961578
NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826
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HTR2A
5-hydroxytryptamine receptor 2A
treatment
ISO
RGD
PMID:19318092
RGD:401901206
NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076
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CSF3
colony stimulating factor 3
ISO
RGD
PMID:9835289
RGD:11039473
NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
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FGF7
fibroblast growth factor 7
ISO
mRNA:increased expression:distal colon (mouse)
RGD
PMID:10338516
RGD:126928149
NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775
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ABCB1
ATP binding cassette subfamily B member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24498193
NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
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CCL4
C-C motif chemokine ligand 4
ISO
mRNA:increased expression:brain
RGD
PMID:16238536
RGD:5683919
NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
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CCL4L2
C-C motif chemokine ligand 4 like 2
IEP
mRNA:increased expression:brain (rat)
RGD
PMID:16238536
RGD:5683919
NCBI chr17:36,211,063...36,212,873
Ensembl chr17:36,210,924...36,212,878
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HBA1
hemoglobin subunit alpha 1
treatment
IDA
RGD
PMID:18786935
RGD:10449443
NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522
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HBA2
hemoglobin subunit alpha 2
treatment
IDA
RGD
PMID:18786935
RGD:10449443
NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710
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IRAK3
interleukin 1 receptor associated kinase 3
treatment
ISO
RGD
PMID:27832756
RGD:34888235
NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
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LCN2
lipocalin 2
exacerbates
ISO
protein:increased expression:serum
RGD
PMID:25234944 PMID:16446425 PMID:25234944
RGD:126725084 , RGD:126779557 , RGD:126725084
NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
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MUC2
mucin 2, oligomeric mucus/gel-forming
ISO
RGD
PMID:23798529
RGD:7349358
NCBI chr11:1,074,874...1,110,508
Ensembl chr11:1,074,875...1,110,511
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NTRK2
neurotrophic receptor tyrosine kinase 2
onset
ISO
protein:decreased expression:hippocampus
RGD
PMID:21411668
RGD:5684914
NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
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PLAC8
placenta associated 8
severity
ISO
RGD
PMID:17404296
RGD:40924563
NCBI chr 4:83,090,048...83,114,729
Ensembl chr 4:83,090,048...83,137,075
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RNASEL
ribonuclease L
severity
ISO
RGD
PMID:19075243
RGD:40902812
NCBI chr 1:182,573,634...182,589,256
Ensembl chr 1:182,573,634...182,589,256
G
SLC6A4
solute carrier family 6 member 4
ISO
RGD
PMID:19747920
RGD:36947380
NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002
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TNF
tumor necrosis factor
ISO
protein:increased expression:serum (rat)
RGD
PMID:9466473
RGD:38508904
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
G
TLR2
toll like receptor 2
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
G
TLR4
toll like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TLR7
toll like receptor 7
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr X:12,867,072...12,890,361
Ensembl chr X:12,867,072...12,890,361
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COMT
catechol-O-methyltransferase
severity
IAGP
DNA:missense mutation:cds: (rs4680) (human)
RGD
PMID:20184498
RGD:8662334
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
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CXCL8
C-X-C motif chemokine ligand 8
IAGP
DNA:SNP:promoter:g.-251T>A (human)
RGD
PMID:17709521
RGD:150523787
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
G
TLR2
toll like receptor 2
ISO
mRNA:increased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
G
TLR4
toll like receptor 4
ISO
mRNA:decreased expression:footpad:
RGD
PMID:21205004
RGD:7794752
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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CD209
CD209 molecule
susceptibility
IAGP
DNA:SNPs:promoter: -939G>A,-871A>G (rs735239) (human)
RGD
PMID:24874302
RGD:39938981
NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564
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CLEC4M
C-type lectin domain family 4 member M
susceptibility
IAGP
DNA:repeats:exon 4: allele 6, allele 9 (human)
RGD
PMID:24874302
RGD:39938981
NCBI chr19:7,763,243...7,769,605
Ensembl chr19:7,763,210...7,769,605
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CXCL8
C-X-C motif chemokine ligand 8
IEP
protein:increased expression:serum (human)
RGD
PMID:16001981
RGD:39939055
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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EREG
epiregulin
susceptibility
IAGP
DNA:SNP:exon 4: (rs2367707) (human)
RGD
PMID:30634928
RGD:39457687
NCBI chr 4:74,365,145...74,388,749
Ensembl chr 4:74,365,145...74,388,749
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NCSTN
nicastrin
IAGP
ClinVar Annotator: match by term: Acne inversa, familial, 1 ClinVar Annotator: match by term: Acne inversa, familial, 1 | ClinVar Annotator: match by term: NCSTN-related condition
ClinVar OMIM
PMID:20929727 PMID:21412258 PMID:22358060 PMID:25693063 PMID:25741868 PMID:26463457 PMID:28492532 PMID:32926179 More...
NCBI chr 1:160,343,383...160,358,949
Ensembl chr 1:160,343,294...160,358,952
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PSENEN
presenilin enhancer, gamma-secretase subunit
IAGP
ClinVar Annotator: match by term: Acne inversa, familial, 2
ClinVar OMIM
PMID:20929727 PMID:21412258 PMID:25741868 PMID:27900998 PMID:28287404 PMID:28492532 PMID:28601418 More...
NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
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PSEN1
presenilin 1
IAGP
ClinVar Annotator: match by term: Acne inversa, familial, 3
ClinVar OMIM
PMID:7596406 PMID:7623585 PMID:8538334 PMID:8634712 PMID:8733303 PMID:8905716 PMID:8962160 PMID:8986743 PMID:9521423 PMID:9804121 PMID:10327206 PMID:11389157 PMID:11524469 PMID:12433263 PMID:12549925 PMID:14769392 PMID:18045903 PMID:19111578 PMID:20049724 PMID:20157243 PMID:20929727 PMID:21559374 PMID:22242180 PMID:22461631 PMID:22475797 PMID:22503161 PMID:22956200 PMID:23638752 PMID:24463146 PMID:24559647 PMID:25285942 PMID:25299611 PMID:25323700 PMID:25741868 PMID:26337232 PMID:26467025 PMID:27264813 PMID:27930341 PMID:28269784 PMID:28492532 PMID:30054184 PMID:31235249 PMID:31914229 PMID:32087291 PMID:32917274 PMID:34389718 PMID:35645353 PMID:35949106 More...
NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
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NCSTN
nicastrin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chr 1:160,343,383...160,358,949
Ensembl chr 1:160,343,294...160,358,952
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PSEN1
presenilin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
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PSENEN
presenilin enhancer, gamma-secretase subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20929727
NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
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ASIP
agouti signaling protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32937126
NCBI chr20:34,186,493...34,269,344
Ensembl chr20:34,194,569...34,269,344
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MIR21
microRNA 21
severity
IEP
associated with colorectal cancer
RGD
PMID:27876571
RGD:40925941
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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GSN
gelsolin
IEP
protein:decreased expression:blood serum (human)
RGD
PMID:9142022
RGD:329333022
NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843
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CCL5
C-C motif chemokine ligand 5
ISO
RGD
PMID:12502811
RGD:4890015
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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IFNAR1
interferon alpha and beta receptor subunit 1
exacerbates
ISO
RGD
PMID:28264883
RGD:125093738
NCBI chr21:33,324,395...33,359,864
Ensembl chr21:33,324,387...33,359,864
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IFNG
interferon gamma
ISO
protein:increased expression:vaginal secretion:
RGD
PMID:10366565
RGD:8158034
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IL21
interleukin 21
treatment
ISO
RGD
PMID:24358128
RGD:127285365
NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
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IL3
interleukin 3
IEP
RNA: increased expression
RGD
PMID:21175248
RGD:5686876
NCBI chr 5:132,060,655...132,063,204
Ensembl chr 5:132,060,655...132,063,204
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IRF9
interferon regulatory factor 9
exacerbates
ISO
RGD
PMID:28264883
RGD:125093738
NCBI chr14:24,161,265...24,166,565
Ensembl chr14:24,161,234...24,168,043
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NFE2L2
NFE2 like bZIP transcription factor 2
ameliorates
ISO
RGD
PMID:31555293
RGD:42722615
NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
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RNASEL
ribonuclease L
severity
ISO
RGD
PMID:17157346
RGD:40902623
NCBI chr 1:182,573,634...182,589,256
Ensembl chr 1:182,573,634...182,589,256
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STAT4
signal transducer and activator of transcription 4
treatment severity
IAGP
DNA:SNP:intron:rs7572482 (human) DNA:SNPs, haplotype: :multiple
RGD
PMID:22718836 PMID:22718836
RGD:8661697 , RGD:8661697
NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
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AMER1
APC membrane recruitment protein 1
IAGP
associated with colorectal cancer;DNA:mutation:multiple (human)
RGD
PMID:30062471
RGD:151665182
NCBI chr X:64,185,117...64,205,708
Ensembl chr X:64,185,117...64,205,708
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GCLC
glutamate-cysteine ligase catalytic subunit
susceptibility
IAGP
associated with Cystic Fibrosis;DNA:SNP,haplotype:promoter:-129C >T,-3506A >G (human)
RGD
PMID:24593045
RGD:10401929
NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970
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IL17A
interleukin 17A
susceptibility
IAGP
Moraxellaceae Infections; associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human)
RGD
PMID:20437253
RGD:4889139
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL1B
interleukin 1 beta
ISO
protein:increased expression:lung (mouse)
RGD
PMID:20308302
RGD:4142825
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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RNASE3
ribonuclease A family member 3
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:21696142
NCBI chr14:20,891,385...20,892,348
Ensembl chr14:20,891,385...20,892,348
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SLC6A4
solute carrier family 6 member 4
ISO
protein:decreased expression:colon (mouse)
RGD
PMID:16548890
RGD:38676481
NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002
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UGT1A1
UDP glucuronosyltransferase family 1 member A1
ISO
mRNA:decreased expression:liver
RGD
PMID:16339353
RGD:6482852
NCBI chr 2:233,760,270...233,773,300
Ensembl chr 2:233,760,270...233,773,300
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ICOS
inducible T cell costimulator
ISO
RGD
PMID:12421962
RGD:1624276
NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
G
RNASE3
ribonuclease A family member 3
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:21696142
NCBI chr14:20,891,385...20,892,348
Ensembl chr14:20,891,385...20,892,348
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TLR2
toll like receptor 2
ISO
RGD
PMID:18354210
RGD:7240560
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
G
IRAK3
interleukin 1 receptor associated kinase 3
severity
ISO
RGD
PMID:25585690
RGD:11527046
NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
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LCN2
lipocalin 2
ISO
mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium
RGD
PMID:16153241
RGD:126781709
NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
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MIR21
microRNA 21
ameliorates
ISO
associated with asthma;
RGD
PMID:27448447
RGD:41404696
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
G
PTPN11
protein tyrosine phosphatase non-receptor type 11
ISO
mRNA, protein:increased expression:macrophage, lung:
RGD
PMID:27330052
RGD:39131287
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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STING1
stimulator of interferon response cGAMP interactor 1
ISO
mRNA,protein:increased expression:lung (mouse)
RGD
PMID:29421524
RGD:39128228
NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
G
FCGR2A
Fc gamma receptor IIa
susceptibility
IAGP
associated with Anemia, Sickle Cell;DNA:polymorphism:cds:p.H131R(human)
RGD
PMID:8648541
RGD:11040885
NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
G
ABCB1
ATP binding cassette subfamily B member 1
sexual_dimorphism no_association
IAGP
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 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
G
ACE
angiotensin I converting enzyme
susceptibility
IAGP
DNA:insertion/deletion:intron:
RGD
PMID:28746216
RGD:40400710
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
G
ACVR1B
activin A receptor type 1B
disease_progression
IEP
associated with stomach cancer;mRNA:increased expression:stomach:
RGD
PMID:32066878
RGD:151665490
NCBI chr12:51,951,699...51,997,078
Ensembl chr12:51,951,699...51,997,078
G
AICDA
activation induced cytidine deaminase
IEP
protein:increased expression:mucosa of stomach (human)
RGD
PMID:23591766
RGD:127285627
NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242
G
ATM
ATM serine/threonine kinase
IEP HEP
associated with stomach cancer;mRNA:increased expression:stomach (human) associated with gastritis;mRNA:increased expression:mucosa of stomach (human)
RGD
PMID:29128564 PMID:25069978
RGD:126790563 , RGD:126790566
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
G
BIRC3
baculoviral IAP repeat containing 3
treatment
IEP IAGP
associated with stomach cancer associated with MALT lymphoma;DNA:gene fusion: (human)
RGD
PMID:27282269 PMID:11398794
RGD:153297818 , RGD:153305954
NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403
G
CCND2
cyclin D2
treatment
IEP
associated with Gastrointestinal Neoplasms or gastritis mRNA:increased expression:stomach:
RGD
PMID:11552926 PMID:12133540
RGD:151665103 , RGD:151665119
NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
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CD1D
CD1d molecule
IEP
associated with dyspepsia;mRNA:splice variant:pyloric antrum (human)
RGD
PMID:26119195
RGD:11074500
NCBI chr 1:158,178,030...158,186,427
Ensembl chr 1:158,178,030...158,186,427
G
CDH1
cadherin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19184424
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
G
CDKN1B
cyclin dependent kinase inhibitor 1B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15138205
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
G
CXCL6
C-X-C motif chemokine ligand 6
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr 4:73,836,678...73,838,760
Ensembl chr 4:73,836,640...73,849,064
G
CXCL8
C-X-C motif chemokine ligand 8
disease_progression
ISO
associated with gastritis;mRNA:increased expression:stomach (mouse, Helicobacter felis) mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:17242461 PMID:29085807
RGD:38549339 , RGD:38549349
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
G
CYBB
cytochrome b-245 beta chain
disease_progression
IEP
mRNA,protein:increased expression:mucosa of stomach (human)
RGD
PMID:27048452
RGD:40924640
NCBI chr X:37,780,059...37,813,461
Ensembl chr X:37,780,018...37,813,461
G
CYP2C19
cytochrome P450 family 2 subfamily C member 19
treatment no_association
IAGP
DNA:polymorphisms:exons: DNA:polymorphisms::
RGD
PMID:9867757 PMID:27706745 PMID:15691303
RGD:124713408 , RGD:124713537 , RGD:124713409
NCBI chr10:94,762,681...94,855,547
Ensembl chr10:94,762,681...94,855,547
G
CYSLTR1
cysteinyl leukotriene receptor 1
treatment
IEP
RGD
PMID:18571838
RGD:40903061
NCBI chr X:78,271,468...78,327,611
Ensembl chr X:78,271,468...78,327,691
G
DUOX2
dual oxidase 2
disease_progression
IEP
mRNA,protein:decreased expression:mucosa of stomach (human)
RGD
PMID:27048452
RGD:40924640
NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172
G
EGF
epidermal growth factor
treatment
IEP
associated with gastritis;
RGD
PMID:25051417
RGD:38599160
NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
G
EGFR
epidermal growth factor receptor
treatment
IEP ISO
associated with gastritis;
RGD
PMID:25051417 PMID:28473630
RGD:38599160 , RGD:38599214
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
G
ERBB2
erb-b2 receptor tyrosine kinase 2
treatment
IEP
associated with gastritis;
RGD
PMID:25051417
RGD:38599160
NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
G
F2R
coagulation factor II thrombin receptor
ISO
RGD
PMID:24866378
RGD:40924630
NCBI chr 5:76,716,126...76,735,770
Ensembl chr 5:76,716,126...76,735,770
G
GAB1
GRB2 associated binding protein 1
susceptibility
IAGP
DNA:SNP:intron:
RGD
PMID:17211494
RGD:39128202
NCBI chr 4:143,336,876...143,474,565
Ensembl chr 4:143,336,876...143,474,565
G
HAMP
hepcidin antimicrobial peptide
treatment
IEP
RGD
PMID:21757452
RGD:11041721
NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
G
HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
resistance
IAGP
associated with Diabetes Mellitus, Insulin-Dependent
RGD
PMID:11860411
RGD:2301818
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
G
HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
IAGP
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 chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
G
HLA-DRB1
major histocompatibility complex, class II, DR beta 1
susceptibility
IAGP
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 chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
G
HMOX1
heme oxygenase 1
IEP
RGD
PMID:16100019
RGD:1598398
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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IFNG
interferon gamma
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
G
IFNGR1
interferon gamma receptor 1
IAGP EXP
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 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
G
IL1B
interleukin 1 beta
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
G
IL21
interleukin 21
IEP ISO
mRNA, protein:increased expression:mucosa of stomach (human)
RGD
PMID:17442980 PMID:31383743
RGD:127285542 , RGD:127285544
NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
G
IL33
interleukin 33
severity
IEP
associated with Helicobacter Infections;DNA:SNP: : rs1929992(human) mRNA:increased expression:stomach
RGD
PMID:31491552 PMID:31320834
RGD:39938849 , RGD:39939030
NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
G
IL6
interleukin 6
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
G
LCN2
lipocalin 2
IEP
protein:increased expression:gastric mucosa
RGD
PMID:19727808
RGD:126781713
NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
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LTB4R
leukotriene B4 receptor
treatment
IEP
RGD
PMID:18571838
RGD:40903061
NCBI chr14:24,311,502...24,318,036
Ensembl chr14:24,311,450...24,318,036
G
MAPK8
mitogen-activated protein kinase 8
IEP
protein:increased expression:pyloric antrum (human)
RGD
PMID:17643099
RGD:150340691
NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
G
MIR155
microRNA 155
IEP ISO
miRNA:increased expression:stomach
RGD
PMID:29250766 PMID:28560185
RGD:21408595 , RGD:25671377
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
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MIR222
microRNA 222
IEP
associated with stomach cancer;RNA:increased expression:stomach:
RGD
PMID:29227536
RGD:151708731
NCBI chr X:45,747,015...45,747,124
Ensembl chr X:45,747,015...45,747,124
G
MTHFR
methylenetetrahydrofolate reductase
susceptibility
IAGP
associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human)
RGD
PMID:23183616 PMID:20957490
RGD:38501056 , RGD:38501057
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
G
MUC6
mucin 6, oligomeric mucus/gel-forming
IEP
protein:increased expression:stomach epithelium
RGD
PMID:15280409
RGD:7364760
NCBI chr11:1,012,823...1,036,718
Ensembl chr11:1,012,823...1,036,718
G
MYD88
MYD88 innate immune signal transduction adaptor
ISO
RGD
PMID:28201999
RGD:150519916
NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
G
PDCD1
programmed cell death 1
severity
IEP
RGD
PMID:21562113
RGD:40818417
NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
G
PRKAA1
protein kinase AMP-activated catalytic subunit alpha 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chr 5:40,759,389...40,798,374
Ensembl chr 5:40,759,389...40,798,374
G
PSCA
prostate stem cell antigen
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chr 8:142,670,297...142,682,725
Ensembl chr 8:142,670,308...142,682,725
G
PTEN
phosphatase and tensin homolog
IEP
associated with gastritis;protein:increased phosphorylation:stomach (human)
RGD
PMID:26376616
RGD:127285599
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
G
PTPN11
protein tyrosine phosphatase non-receptor type 11
susceptibility
IAGP
DNA:SNP:intron: rs2301756(human)
RGD
PMID:19589142
RGD:39128247
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
G
PTPRZ1
protein tyrosine phosphatase receptor type Z1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17030583
NCBI chr 7:121,873,161...122,062,036
Ensembl chr 7:121,873,089...122,062,036
G
SLC6A4
solute carrier family 6 member 4
IAGP
DNA:repeats:promoter:
RGD
PMID:24720453
RGD:36947385
NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002
G
SOCS3
suppressor of cytokine signaling 3
ISO
mRNA, protein:increased expression
RGD
PMID:17405912
RGD:1625683
NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077
G
TFF1
trefoil factor 1
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr21:42,362,282...42,366,535
Ensembl chr21:42,362,282...42,366,535
G
TFF2
trefoil factor 2
disease_progression
IEP ISO
protein:increased expression:stomach epithelium mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:15280409 PMID:29085807
RGD:7364760 , RGD:38549349
NCBI chr21:42,346,357...42,350,994
Ensembl chr21:42,346,357...42,350,997
G
TFF3
trefoil factor 3
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr21:42,311,667...42,315,409
Ensembl chr21:42,311,667...42,315,409
G
TFRC
transferrin receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16733738 PMID:17163184
NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153
G
VIP
vasoactive intestinal peptide
ISO
protein:increased expression:spinal cord, stomach
RGD
PMID:19906107
RGD:5685602
NCBI chr 6:152,750,797...152,759,760
Ensembl chr 6:152,750,797...152,759,765
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CD163
CD163 molecule
IEP
protein:increased expression:dermis (human)
RGD
PMID:29603182
RGD:127285799
NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
G
GJB2
gap junction protein beta 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16172043
NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
G
IL17D
interleukin 17D
sexual_dimorphism
HEP
mRNA:increased expression:apocrine gland (human)
RGD
PMID:32031713
RGD:40903066
NCBI chr13:20,701,513...20,723,098
Ensembl chr13:20,702,127...20,723,098
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IL32
interleukin 32
exacerbates
IEP
mRNA,protein:increased expression:zone of skin, blood serum (human)
RGD
PMID:28301691
RGD:150340720
NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
G
LCN2
lipocalin 2
disease_progression
IEP
RGD
PMID:28256718
RGD:126781708
NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
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MEFV
MEFV innate immunity regulator, pyrin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
G
NLRP3
NLR family pyrin domain containing 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
G
NOD2
nucleotide binding oligomerization domain containing 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
G
PSTPIP1
proline-serine-threonine phosphatase interacting protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106250
NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475
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TNF
tumor necrosis factor
IAGP
DNA:polymorphism,haplotype:promoter:-238G>A(human)
RGD
PMID:23106544
RGD:7777155
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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APP
amyloid beta precursor protein
IEP
RGD
PMID:29632166
RGD:13782045
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
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BACE1
beta-secretase 1
IEP
RGD
PMID:29632166
RGD:13782045
NCBI chr11:117,285,698...117,316,256
Ensembl chr11:117,285,232...117,316,259
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CD68
CD68 molecule
IEP
protein:increased expression:brain (human)
RGD
PMID:15488024
RGD:40925943
NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111
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CDK5
cyclin dependent kinase 5
ISO
protein:increased tyrosine phosphorylation:hippocampus
RGD
PMID:28107387
RGD:13506927
NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897
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MFN1
mitofusin 1
IEP
associated with HIV Infections;protein:increased expression:frontal cortex, membrane (human)
RGD
PMID:26611103
RGD:12910851
NCBI chr 3:179,347,709...179,394,936
Ensembl chr 3:179,347,709...179,394,936
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OLIG2
oligodendrocyte transcription factor 2
HEP
RGD
PMID:15579294
RGD:40902823
NCBI chr21:33,025,935...33,029,185
Ensembl chr21:33,025,935...33,029,196
G
ALB
albumin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17209195
NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
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APH1B
aph-1 homolog B, gamma-secretase subunit
susceptibility
IAGP
DNA:SNP:CDS:p.F217L (rs1047552) (human)
RGD
PMID:19774691
RGD:13703126
NCBI chr15:63,277,605...63,309,126
Ensembl chr15:63,276,018...63,309,126
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CLEC4M
C-type lectin domain family 4 member M
susceptibility
IAGP
DNA:repeats:exon 4 DNA:repeat:
RGD
PMID:25656622 PMID:20217198 PMID:16453266
RGD:11520989 , RGD:39938989 , RGD:39938979
NCBI chr19:7,763,243...7,769,605
Ensembl chr19:7,763,210...7,769,605
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
IAGP
DNA:polymorphism (human)
RGD
PMID:20224785
RGD:5147578
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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IFNL4
interferon lambda 4 (gene/pseudogene)
susceptibility
IAGP
DNA:frameshift mutation:5'utr: (rs368234815) (human)
RGD
PMID:30289470 PMID:26372394
RGD:40886284 , RGD:11344677
NCBI chr19:39,246,314...39,248,856
Ensembl chr19:39,246,314...39,248,856
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KIR2DL1
killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1
treatment
IEP
RGD
PMID:18724804
RGD:40818277
NCBI chr19:54,769,793...54,784,322
Ensembl chr19:54,769,793...54,784,322
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KIR2DS4
killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4
treatment
IEP
RGD
PMID:18724804
RGD:40818277
NCBI chr19:54,832,707...54,848,575
Ensembl chr19:54,832,676...54,848,569
G
KIR3DS1
killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1
disease_progression
IAGP
DNA:CNV: (human)
RGD
PMID:25330014
RGD:150340563
G
KLRK1
killer cell lectin like receptor K1
IEP
protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human)
RGD
PMID:27091211
RGD:40818300
NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874
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NCR1
natural cytotoxicity triggering receptor 1
treatment
IEP
protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
RGD
PMID:18724804 PMID:27091211
RGD:40818277 , RGD:40818300
NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140
G
NEFL
neurofilament light chain
treatment
IEP
RGD
PMID:30105502
RGD:127284876
NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
G
IL1A
interleukin 1 alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
G
IL1B
interleukin 1 beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL6
interleukin 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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TNF
tumor necrosis factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:7979221
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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ADIPOQ
adiponectin, C1Q and collagen domain containing
IEP
RGD
PMID:12876073
RGD:8694470
NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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ADRB3
adrenoceptor beta 3
IAGP
DNA:missense mutation:cds:p.W64R rs4994 (human)
RGD
PMID:10930169
RGD:5684895
NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599
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IL18
interleukin 18
susceptibility
IAGP IEP
DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)
RGD
PMID:20331838 PMID:15353983
RGD:8655915 , RGD:8655934
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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LMNA
lamin A/C
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18230615
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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MMP1
matrix metallopeptidase 1
IAGP
DNA:SNP
RGD
PMID:20852404
RGD:8549721
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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ZMPSTE24
zinc metallopeptidase STE24
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18230615
NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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ABCB1
ATP binding cassette subfamily B member 1
treatment severity
ISO IAGP IEP
mRNA:altered expression:brain, heart, kidney (rat) DNA:SNPs: :4036A>G, 1236C>T (human)
RGD
PMID:24472536 PMID:23133441 PMID:27334660
RGD:11041168 , RGD:39456100 , RGD:39456096
NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
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ABCE1
ATP binding cassette subfamily E member 1
IAGP
DNA:mutations:multiple (human)
RGD
PMID:19657357
RGD:11041871
NCBI chr 4:145,098,311...145,129,524
Ensembl chr 4:145,098,288...145,129,524
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ADRB2
adrenoceptor beta 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27400929
NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
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AICDA
activation induced cytidine deaminase
IEP
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:30219203
RGD:127285639
NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242
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ALB
albumin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16903978
NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
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ALYREF
Aly/REF export factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:81,887,835...81,891,587
Ensembl chr17:81,887,835...81,891,586
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APOA1
apolipoprotein A1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12646808
NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
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ARAP3
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 5:141,653,402...141,682,230
Ensembl chr 5:141,653,401...141,682,230
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ARHGAP4
Rho GTPase activating protein 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr X:153,907,378...153,926,264
Ensembl chr X:153,907,367...153,934,999
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ARHGDIA
Rho GDP dissociation inhibitor alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:81,867,721...81,871,337
Ensembl chr17:81,867,721...81,871,378
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ARHGDIB
Rho GDP dissociation inhibitor beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr12:14,942,015...14,961,601
Ensembl chr12:14,942,031...14,961,728
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ATM
ATM serine/threonine kinase
IEP
protein:decreased expression:T cell (human)
RGD
PMID:31781094
RGD:126790561
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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BAG3
BAG cochaperone 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17187345
NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819
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BAX
BCL2 associated X, apoptosis regulator
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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BIRC2
baculoviral IAP repeat containing 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
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BIRC3
baculoviral IAP repeat containing 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403
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BISPR
BST2 interferon stimulated positive regulator
IAGP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS
ClinVar
NCBI chr19:17,405,686...17,415,736
Ensembl chr19:17,405,686...17,419,324
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BST2
bone marrow stromal cell antigen 2
IAGP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS
ClinVar
NCBI chr19:17,402,939...17,405,630
Ensembl chr19:17,402,939...17,405,630
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C3
complement C3
IEP
RGD
PMID:7561187
RGD:11040775
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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CCL11
C-C motif chemokine ligand 11
susceptibility
IAGP EXP IEP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to CTD Direct Evidence: marker/mechanism protein:increased expression:plasma
ClinVar OMIM CTD RGD
PMID:14571188 PMID:27246604
RGD:14995461
NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334
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CCL2
C-C motif chemokine ligand 2
EXP IAGP IEP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to protein:increased expression:plasma
CTD ClinVar RGD
PMID:14571188 PMID:27246604
RGD:14995461
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CCL3
C-C motif chemokine ligand 3
IAGP EXP
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169
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CCL3L1
C-C motif chemokine ligand 3 like 1
susceptibility
IAGP EXP
CTD Direct Evidence: marker/mechanism
OMIM CTD
Ensembl chr17:36,194,869...36,196,758
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CCL4
C-C motif chemokine ligand 4
susceptibility
IEP
RGD
PMID:16250882
RGD:5683897
NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
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CCL4L2
C-C motif chemokine ligand 4 like 2
disease_progression
IAGP
RGD
PMID:19279442
RGD:41404638
NCBI chr17:36,211,063...36,212,873
Ensembl chr17:36,210,924...36,212,878
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CCL5
C-C motif chemokine ligand 5
IAGP EXP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid disease progression with infection by CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Human immunodeficiency virus type 1, delayed disease progression with infection by
ClinVar CTD OMIM
PMID:10200305 PMID:12114533 PMID:12610055
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CCR2
C-C motif chemokine receptor 2
susceptibility
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
CTD OMIM ClinVar
PMID:9252328 PMID:9662369 PMID:25741868
NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
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CCR3
C-C motif chemokine receptor 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10202824
NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706
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CCR5
C-C motif chemokine receptor 5
susceptibility
IEP IAGP EXP
protein:decreased expression:blood, T cell (human) ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Human immunodeficiency virus type 1, increased perinatal transmission of
OMIM ClinVar CTD RGD
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 PMID:9140404 PMID:9207783 PMID:9399903 PMID:9433423 PMID:9466996 PMID:9511755 PMID:9585595 PMID:9600249 PMID:9742978 PMID:9768627 PMID:10520641 PMID:10559343 PMID:10615909 PMID:10803840 PMID:11081537 PMID:11369664 PMID:11403804 PMID:11403814 PMID:11517319 PMID:11781692 PMID:12610055 PMID:12815099 PMID:12874407 PMID:15744032 PMID:15863470 PMID:16216086 PMID:16248677 PMID:16418398 PMID:19017985 PMID:19073967 PMID:25741868 PMID:28492532 PMID:33116287 PMID:16379602 More...
RGD:4892094
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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CCR5AS
CCR5 antisense RNA
IAGP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to ClinVar Annotator: match by term: Human immunodeficiency virus type 1, increased perinatal transmission of
ClinVar
PMID:8639485 PMID:8751444 PMID:8756719 PMID:9055842 PMID:9132277 PMID:9140404 PMID:9207783 PMID:9399903 PMID:9433423 PMID:9466996 PMID:9511755 PMID:9585595 PMID:9600249 PMID:9742978 PMID:9768627 PMID:10520641 PMID:10559343 PMID:10615909 PMID:10803840 PMID:11081537 PMID:11369664 PMID:11403804 PMID:11403814 PMID:11517319 PMID:11781692 PMID:12610055 PMID:12815099 PMID:12874407 PMID:15744032 PMID:15863470 PMID:16216086 PMID:16248677 PMID:16418398 PMID:19017985 PMID:19073967 PMID:25741868 PMID:28492532 PMID:33116287 More...
NCBI chr 3:46,363,984...46,407,066
Ensembl chr 3:46,364,391...46,407,117
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CCT3
chaperonin containing TCP1 subunit 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:156,308,968...156,338,292
Ensembl chr 1:156,308,968...156,367,873
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CCT5
chaperonin containing TCP1 subunit 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 5:10,249,921...10,266,412
Ensembl chr 5:10,249,929...10,266,389
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CCT7
chaperonin containing TCP1 subunit 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 2:73,234,308...73,253,005
Ensembl chr 2:73,233,420...73,253,021
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CD163
CD163 molecule
exacerbates treatment
IEP
protein:increased expression:blood plasma (human)
RGD
PMID:23916293 PMID:24594990
RGD:127285682 , RGD:149735575
NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
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CD209
CD209 molecule
IAGP EXP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:15564514 PMID:15838506 PMID:16379498 PMID:25741868
NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564
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CD274
CD274 molecule
IEP
RGD
PMID:30161254 PMID:30236481
RGD:41412179 , RGD:41412181
NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
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CD28
CD28 molecule
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:7492435
NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,475...203,738,912
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CD40
CD40 molecule
IEP
protein:increased expression:plasmacytoid dendritic cell
RGD
PMID:20559432
RGD:5490533
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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CD40LG
CD40 ligand
IDA
RGD
PMID:21177803
RGD:5490598
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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CD68
CD68 molecule
disease_progression
IEP
associated with opioid use;protein:increased expression:brain (human)
RGD
PMID:22797933
RGD:41404655
NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111
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CD8A
CD8 subunit alpha
treatment
HEP
RGD
PMID:29384862
RGD:124715453
NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
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CDC42
cell division cycle 42
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360
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CDKN1A
cyclin dependent kinase inhibitor 1A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
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CLIC1
chloride intracellular channel 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 6:31,730,581...31,737,318
Ensembl chr 6:31,730,581...31,739,763
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COPS6
COP9 signalosome subunit 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 7:100,088,969...100,092,187
Ensembl chr 7:100,088,969...100,092,187
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CR2
complement C3d receptor 2
IEP
protein:decreased expression:B cell
RGD
PMID:8442917
RGD:127338249
NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895
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CRP
C-reactive protein
disease_progression
IDA
RGD
PMID:22448211
RGD:6482303
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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CX3CR1
C-X3-C motif chemokine receptor 1
IAGP EXP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868
NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735
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CXCL10
C-X-C motif chemokine ligand 10
IEP
protein:increased expression:plasma
RGD
PMID:27246604
RGD:14995461
NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
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CXCL12
C-X-C motif chemokine ligand 12
IAGP EXP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:9430590 PMID:25741868
NCBI chr10:44,370,165...44,385,097
Ensembl chr10:44,370,165...44,386,493
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CXCL8
C-X-C motif chemokine ligand 8
IEP
associated with pleural tuberculosis; protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:21303360 PMID:31217522
RGD:36947878 , RGD:150521549
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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CXCR1
C-X-C motif chemokine receptor 1
IAGP EXP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868
NCBI chr 2:218,162,841...218,166,962
Ensembl chr 2:218,162,841...218,166,962
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CYP2B6
cytochrome P450 family 2 subfamily B member 6
treatment
IAGP
DNA:haplotype: :CYP2B6*6(human) DNA:SNPs: :516G>T,983T>C (human)
RGD
PMID:21862974 PMID:18281305
RGD:11098366 , RGD:11097175
NCBI chr19:40,991,282...41,018,398
Ensembl chr19:40,991,282...41,018,398
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DDX1
DEAD-box helicase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24183723
NCBI chr 2:15,591,868...15,631,101
Ensembl chr 2:15,591,178...15,634,346
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DDX3X
DEAD-box helicase 3 X-linked
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24183723
NCBI chr X:41,333,308...41,364,472
Ensembl chr X:41,333,348...41,364,472
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DNAJC7
DnaJ heat shock protein family (Hsp40) member C7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:41,976,435...42,017,439
Ensembl chr17:41,976,421...42,021,376
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EIF3B
eukaryotic translation initiation factor 3 subunit B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 7:2,354,086...2,380,745
Ensembl chr 7:2,354,086...2,380,745
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EIF4A1
eukaryotic translation initiation factor 4A1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:7,572,825...7,579,006
Ensembl chr17:7,572,824...7,579,006
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EIF4EBP1
eukaryotic translation initiation factor 4E binding protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 8:38,030,534...38,060,365
Ensembl chr 8:38,030,534...38,060,365
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EIF6
eukaryotic translation initiation factor 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr20:35,278,906...35,284,772
Ensembl chr20:35,278,907...35,284,985
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EMG1
EMG1 N1-specific pseudouridine methyltransferase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,913...6,979,936
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EPHB2
EPH receptor B2
IEP
mRNA:decreased expression:Anterior cingulate
RGD
PMID:23314923
RGD:127285026
NCBI chr 1:22,710,838...22,921,500
Ensembl chr 1:22,710,839...22,921,500
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FAS
Fas cell surface death receptor
IDA
RGD
PMID:10200468
RGD:11049451
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FCER2
Fc epsilon receptor II
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11500085
NCBI chr19:7,688,776...7,702,131
Ensembl chr19:7,688,758...7,702,146
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FCGR3A
Fc gamma receptor IIIa
susceptibility
IAGP
DNA:polymorphism:exon:p.F158V(rs396991)(human)
RGD
PMID:21187939
RGD:5508390
NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
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GADD45A
growth arrest and DNA damage inducible alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 1:67,685,201...67,688,334
Ensembl chr 1:67,685,201...67,688,334
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GC
GC vitamin D binding protein
disease_progression
IAGP
RGD
PMID:2883392
RGD:5509934
NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041
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GRPEL1
GrpE like 1, mitochondrial
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 4:7,058,895...7,068,064
Ensembl chr 4:7,058,671...7,068,085
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GTF3A
general transcription factor IIIA
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr13:27,424,619...27,435,823
Ensembl chr13:27,424,619...27,435,823
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HDGF
heparin binding growth factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:156,742,107...156,767,366
Ensembl chr 1:156,742,109...156,766,925
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HLA-B
major histocompatibility complex, class I, B
susceptibility
EXP IAGP
CTD Direct Evidence: marker/mechanism DNA:polymorphism:cds:HLA-DRB1*08, HLA-B*35, HLA-C*04 (human)
CTD RGD
PMID:17496894 PMID:28244954
RGD:40903000
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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HLA-C
major histocompatibility complex, class I, C
susceptibility
IAGP EXP
ClinVar Annotator: match by term: HIV-1 viremia, susceptibility to DNA:polymorphism:cds:HLA-DRB1*08, HLA-B*35, HLA-C*04 (human) CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:19935663 PMID:28244954
RGD:40903000
NCBI chr 6:31,268,749...31,272,092
Ensembl chr 6:31,268,749...31,272,130
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HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
IAGP
DNA:polymorphisms (human)
RGD
PMID:18427198
RGD:5147817
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
G
HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
IAGP
DNA:polymorphisms: :multiple (human) DNA:polymorphisms (human)
RGD
PMID:20345872 PMID:18427198
RGD:5147659 , RGD:5147817
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
G
HLA-DRA
major histocompatibility complex, class II, DR alpha
IEP
RGD
PMID:21427211
RGD:5490157
NCBI chr 6:32,439,887...32,445,046
Ensembl chr 6:32,439,878...32,445,046
G
HLA-DRB1
major histocompatibility complex, class II, DR beta 1
disease_progression susceptibility
IAGP
DNA:polymorphism (human) DNA:polymorphism:cds:HLA-DRB1*08, HLA-B*35, HLA-C*04 (human) DNA:polymorphisms: :multiple (human)
RGD
PMID:21257739 PMID:28244954 PMID:20345872
RGD:5147591 , RGD:40903000 , RGD:5147659
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
G
HP
haptoglobin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
G
HSP90AA1
heat shock protein 90 alpha family class A member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr14:102,080,742...102,139,749
Ensembl chr14:102,080,742...102,139,699
G
HSP90AB1
heat shock protein 90 alpha family class B member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 6:44,246,194...44,253,883
Ensembl chr 6:44,246,166...44,253,888
G
HSPA9
heat shock protein family A (Hsp70) member 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675
G
HSPB1
heat shock protein family B (small) member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,304,295
G
HSPD1
heat shock protein family D (Hsp60) member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
G
HSPH1
heat shock protein family H (Hsp110) member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr13:31,134,973...31,162,388
Ensembl chr13:31,134,973...31,162,388
G
IFNG
interferon gamma
EXP IAGP
CTD Direct Evidence: marker/mechanism
CTD OMIM
PMID:10202824
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IL10
interleukin 10
treatment
IEP IAGP EXP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:10202824 PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 PMID:10666520 More...
RGD:7365087
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL15
interleukin 15
IEP
protein:decreased expression:plasma
RGD
PMID:20028198
RGD:4892672
NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
G
IL17D
interleukin 17D
severity
HEP
Protein:increased expression:blood plasma (human)
RGD
PMID:28592538
RGD:40903074
NCBI chr13:20,701,513...20,723,098
Ensembl chr13:20,702,127...20,723,098
G
IL18
interleukin 18
treatment
IEP
associated with hepatitis C; protein:increased expression:serum:
RGD
PMID:27927859 PMID:27927859
RGD:14696653 , RGD:14696653
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
G
IL19
interleukin 19
IAGP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
ClinVar
PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 More...
NCBI chr 1:206,770,773...206,842,981
Ensembl chr 1:206,770,764...206,842,981
G
IL2
interleukin 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
G
IL21
interleukin 21
IEP
associated with hepatitis B;protein:decreased expression:blood serum (human)
RGD
PMID:22948268
RGD:127285366
NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
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IL21R
interleukin 21 receptor
IDA
RGD
PMID:22530560
RGD:6892924
NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042
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IL27
interleukin 27
ameliorates
IEP
protein:increased expression:blood plasma (human) associated with hepatitis C;protein:increased expression:blood plasma (human)
RGD
PMID:28338007 PMID:24816922
RGD:126790518 , RGD:126790553
NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
G
IL2RA
interleukin 2 receptor subunit alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
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IL32
interleukin 32
IEP
protein:increased expression:blood serum (human)
RGD
PMID:18329725
RGD:150340725
NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
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IL4R
interleukin 4 receptor
IAGP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778
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IL6
interleukin 6
IEP
protein:increased expression:serum
RGD
PMID:1768380
RGD:10449449
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
G
ILF2
interleukin enhancer binding factor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:153,661,788...153,670,993
Ensembl chr 1:153,661,788...153,671,028
G
IPO7
importin 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr11:9,384,652...9,448,127
Ensembl chr11:9,384,652...9,448,127
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KIR3DL1
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
susceptibility
EXP IAGP
CTD Direct Evidence: marker/mechanism DNA:deletion:cds
CTD OMIM RGD
PMID:17496894 PMID:31863692
RGD:38676444
NCBI chr19:54,816,468...54,830,778
Ensembl chr19:54,816,468...54,830,778
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KIR3DS1
killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1
susceptibility
IAGP
DNA:deletion: (human)
RGD
PMID:31863692
RGD:38676444
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KMT2E
lysine methyltransferase 2E (inactive)
IEP
protein:increased expression:peripheral blood, T cell, CD4+ (human)
RGD
PMID:16046540
RGD:9588555
NCBI chr 7:105,014,205...105,115,019
Ensembl chr 7:104,940,943...105,115,019
G
KPNB1
karyopherin subunit beta 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:47,649,919...47,685,505
Ensembl chr17:47,649,476...47,685,505
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LCK
LCK proto-oncogene, Src family tyrosine kinase
ISO
protein:increased tyrosine phosphorylation:T cell
RGD
PMID:16828835
RGD:1600221
NCBI chr 1:32,251,265...32,286,165
Ensembl chr 1:32,251,244...32,286,165
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LEPR
leptin receptor
IEP
protein:increased phosphorylation:peripheral blood mononuclear cell
RGD
PMID:12100031
RGD:21079471
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
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LOC117307477
CD209 promoter region
IAGP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
ClinVar
PMID:15564514 PMID:15838506 PMID:16379498
NCBI chr19:7,747,412...7,749,177
G
LOC128462409
CRISPRi-FlowFISH-validated IL10 regulatory element GRCh37_chr1:206945468-206946089
IAGP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:206,772,123...206,772,744
G
LOC130063933
ATAC-STARR-seq lymphoblastoid active region 14268
IAGP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS
ClinVar
NCBI chr19:17,405,662...17,406,041
G
LYN
LYN proto-oncogene, Src family tyrosine kinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169
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MAP2
microtubule associated protein 2
ISO
RGD
PMID:19966940
RGD:6483319
NCBI chr 2:209,424,047...209,734,112
Ensembl chr 2:209,424,047...209,734,147
G
MAZ
MYC associated zinc finger protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr16:29,806,124...29,811,164
Ensembl chr16:29,806,106...29,811,164
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MBL2
mannose binding lectin 2
severity no_association
IAGP EXP
DNA:polymorphism:exon: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16960176 PMID:19796822 PMID:26348711
RGD:12910857 , RGD:12910931
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
G
MDM2
MDM2 proto-oncogene
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544
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MKI67
marker of proliferation Ki-67
IDA
RGD
PMID:21576701
RGD:6483531
NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
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MVB12A
multivesicular body subunit 12A
IAGP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, rapid progression to AIDS
ClinVar
NCBI chr19:17,405,741...17,425,332
Ensembl chr19:17,405,722...17,433,724
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MYH9
myosin heavy chain 9
ISO
protein:decreased expression:glomerulus
RGD
PMID:22313957
RGD:6903274
NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
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NEFL
neurofilament light chain
treatment
IEP
RGD
PMID:30005007
RGD:127285390
NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
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NEFM
neurofilament medium chain
IDA
protein:increased serine/threonine phosphorylation:brain
RGD
PMID:26033855
RGD:40886309
NCBI chr 8:24,913,761...24,919,093
Ensembl chr 8:24,913,758...24,919,098
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NUP88
nucleoporin 88
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164
G
NUTF2
nuclear transport factor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr16:67,846,933...67,872,567
Ensembl chr16:67,846,882...67,872,567
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ODC1
ornithine decarboxylase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327
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OGG1
8-oxoguanine DNA glycosylase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29709520
NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
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OPRM1
opioid receptor mu 1
ISO
mRNA:increased expression:macrophage
RGD
PMID:17553897
RGD:2316609
NCBI chr 6:154,010,496...154,246,867
Ensembl chr 6:154,010,496...154,246,867
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PDCD1
programmed cell death 1
IEP
RGD
PMID:30161254
RGD:41412179
NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
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PLA2G2A
phospholipase A2 group IIA
IAGP
RGD
PMID:18096355
RGD:6482728
NCBI chr 1:19,975,431...19,980,434
Ensembl chr 1:19,975,431...19,980,416
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PLAUR
plasminogen activator, urokinase receptor
disease_progression
IEP
protein:increased expression:plasma
RGD
PMID:21384094 PMID:20229356
RGD:6484120 , RGD:6484128
NCBI chr19:43,646,095...43,670,169
Ensembl chr19:43,646,095...43,670,547
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PPIA
peptidylprolyl isomerase A
disease_progression
IAGP
DNA:SNPs:promotor, intron 1: 1604C>G, 2653A>C (rs8177826, rs3735481) (human)
RGD
PMID:17590083
RGD:150383341
NCBI chr 7:44,796,681...44,803,117
Ensembl chr 7:44,796,680...44,824,564
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PPIB
peptidylprolyl isomerase B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,740...64,163,134
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PRF1
perforin 1
IEP IAGP
DNA:SNP: :rs885822 (human)
RGD
PMID:20523897 PMID:21157294
RGD:6482808 , RGD:6482819
NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759
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PRPF8
pre-mRNA processing factor 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:1,650,629...1,684,867
Ensembl chr17:1,650,629...1,684,867
G
PSMA4
proteasome 20S subunit alpha 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr15:78,540,405...78,552,417
Ensembl chr15:78,540,405...78,552,417
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PSMA5
proteasome 20S subunit alpha 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:109,399,042...109,426,448
Ensembl chr 1:109,399,042...109,426,448
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PSMA6
proteasome 20S subunit alpha 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr14:35,278,558...35,317,493
Ensembl chr14:35,278,633...35,317,493
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PSMB10
proteasome 20S subunit beta 10
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr16:67,934,506...67,936,850
Ensembl chr16:67,934,506...67,936,864
G
PSMB4
proteasome 20S subunit beta 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:151,399,573...151,401,937
Ensembl chr 1:151,399,560...151,401,937
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PSMC3
proteasome 26S subunit, ATPase 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr11:47,418,775...47,426,439
Ensembl chr11:47,418,769...47,426,473
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PSMC5
proteasome 26S subunit, ATPase 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:63,827,431...63,832,019
Ensembl chr17:63,827,152...63,832,026
G
PSMD13
proteasome 26S subunit, non-ATPase 13
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr11:236,976...252,984
Ensembl chr11:236,966...252,984
G
PSMD3
proteasome 26S subunit, non-ATPase 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:39,980,807...39,997,959
Ensembl chr17:39,980,807...39,997,959
G
PSMD6
proteasome 26S subunit, non-ATPase 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 3:64,010,551...64,024,007
Ensembl chr 3:64,010,550...64,024,010
G
PSMD8
proteasome 26S subunit, non-ATPase 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr19:38,374,571...38,383,824
Ensembl chr19:38,374,563...38,383,850
G
PSME1
proteasome activator subunit 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr14:24,136,194...24,138,962
Ensembl chr14:24,136,163...24,138,967
G
PSME2
proteasome activator subunit 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr14:24,143,365...24,146,610
Ensembl chr14:24,143,362...24,147,570
G
PSME3
proteasome activator subunit 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:42,833,397...42,843,760
Ensembl chr17:42,824,385...42,843,760
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PSME4
proteasome activator subunit 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 2:53,864,069...53,970,993
Ensembl chr 2:53,864,069...53,970,993
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PTCH1
patched 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12878215
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
mRNA, protein:increased expression:brain
RGD
PMID:21846384
RGD:5508195
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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RAB11B
RAB11B, member RAS oncogene family
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr19:8,390,360...8,404,434
Ensembl chr19:8,389,981...8,404,434
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RAB32
RAB32, member RAS oncogene family
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 6:146,543,833...146,554,953
Ensembl chr 6:146,543,833...146,554,953
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RAN
RAN, member RAS oncogene family
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr12:130,872,066...130,877,678
Ensembl chr12:130,872,037...130,877,678
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RANBP1
RAN binding protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr22:20,116,104...20,127,355
Ensembl chr22:20,115,938...20,127,355
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SELP
selectin P
IEP
RGD
PMID:22156911
RGD:6218986
NCBI chr 1:169,588,849...169,630,124
Ensembl chr 1:169,588,849...169,630,193
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SERPINA1
serpin family A member 1
susceptibility
EXP IAGP
CTD Direct Evidence: therapeutic DNA:polymorphism:cds:p.Glu264Val(human)
CTD RGD
PMID:17448989 PMID:24122823
RGD:14695057
NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
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SF3A3
splicing factor 3a subunit 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:37,956,975...37,990,022
Ensembl chr 1:37,956,975...37,990,075
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SFPQ
splicing factor proline and glutamine rich
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 1:35,176,380...35,193,145
Ensembl chr 1:35,176,378...35,193,446
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SIGMAR1
sigma non-opioid intracellular receptor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16204638
NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844
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SIRT1
sirtuin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19720090
NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
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SLC11A1
solute carrier family 11 member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
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SNRPD3
small nuclear ribonucleoprotein D3 polypeptide
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr22:24,555,650...24,574,971
Ensembl chr22:24,555,958...24,582,052
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SOCS1
suppressor of cytokine signaling 1
IEP
mRNA:decreased expression:uterine cervix
RGD
PMID:16878360
RGD:2298904
NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
G
SOCS3
suppressor of cytokine signaling 3
IEP
mRNA:decreased expression:uterine cervix
RGD
PMID:16878360
RGD:2298904
NCBI chr17:78,356,778...78,360,925
Ensembl chr17:78,356,778...78,360,077
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SRF
serum response factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 6:43,171,269...43,181,506
Ensembl chr 6:43,171,269...43,181,506
G
SRSF1
serine and arginine rich splicing factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr17:57,989,038...58,007,246
Ensembl chr17:58,000,919...58,007,346
G
SRSF9
serine and arginine rich splicing factor 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr12:120,461,672...120,469,748
Ensembl chr12:120,461,672...120,495,946
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STING1
stimulator of interferon response cGAMP interactor 1
IEP
mRNA:increased expression:multiple tissues (human)
RGD
PMID:24367701
RGD:39128218
NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
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TAF9
TATA-box binding protein associated factor 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr 5:69,364,743...69,369,824
Ensembl chr 5:69,362,026...69,370,013
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TLR3
toll like receptor 3
IAGP EXP
ClinVar Annotator: match by term: Human immunodeficiency virus type 1, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:24033266 PMID:25339207 PMID:25741868 PMID:26193622 PMID:28046022 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:33174085 PMID:34813006 More...
NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
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TNF
tumor necrosis factor
IEP
protein:increased expression:serum
RGD
PMID:1768380
RGD:10449449
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF8
TNF receptor superfamily member 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8811349
NCBI chr 1:12,063,303...12,144,207
Ensembl chr 1:12,063,303...12,144,207
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TREM1
triggering receptor expressed on myeloid cells 1
IEP
mRNA,protein:increased expression:peripheral blood mononuclear cell, macrophage, plasma
RGD
PMID:31260499
RGD:126925971
NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
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TRIM5
tripartite motif containing 5
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:15249687
NCBI chr11:5,588,635...5,685,074
Ensembl chr11:5,663,195...5,938,619
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U2AF1
U2 small nuclear RNA auxiliary factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr21:43,092,956...43,107,578
Ensembl chr21:43,092,956...43,107,570
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VDR
vitamin D receptor
IAGP
DNA:SNPs:3' UTR (human)
RGD
PMID:18712587
RGD:4889839
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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YY1
YY1 transcription factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15308739
NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788
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OTULIN
OTU deubiquitinase with linear linkage specificity
susceptibility
IAGP
ClinVar Annotator: match by term: Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection
ClinVar OMIM
PMID:25741868 PMID:27559085 PMID:28492532 PMID:35587511
NCBI chr 5:14,664,718...14,716,525
Ensembl chr 5:14,664,664...14,699,850
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IRF1
interferon regulatory factor 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 117
OMIM ClinVar
NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719
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LOC126807508
CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:131821689-131822888
IAGP
ClinVar Annotator: match by term: Immunodeficiency 117
ClinVar
NCBI chr 5:132,485,997...132,487,196
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BCLAF1
BCL2 associated transcription factor 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 6:136,256,627...136,289,846
Ensembl chr 6:136,256,627...136,289,851
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IFNGR1
interferon gamma receptor 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar OMIM
PMID:8960473 PMID:8960475 PMID:9142806 PMID:9389728 PMID:9497247 PMID:9806040 PMID:10192386 PMID:10811850 PMID:11583830 PMID:12516030 PMID:12712974 PMID:12743658 PMID:15589309 PMID:16195661 PMID:16690980 PMID:18171304 PMID:18593809 PMID:19488747 PMID:19880337 PMID:19880857 PMID:20015550 PMID:21266457 PMID:21448974 PMID:24033266 PMID:24199198 PMID:25216720 PMID:25592983 PMID:25741868 PMID:26060819 PMID:26173802 PMID:26343451 PMID:27356097 PMID:28492532 PMID:28902581 More...
NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
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IFNGR2
interferon gamma receptor 2
IAGP
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr21:33,402,882...33,437,516
Ensembl chr21:33,403,413...33,479,348
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IL12RB1
interleukin 12 receptor subunit beta 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:19460324 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944
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IL20RA
interleukin 20 receptor subunit alpha
IAGP
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 6:136,999,971...137,044,965
Ensembl chr 6:136,999,971...137,045,180
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IL22RA2
interleukin 22 receptor subunit alpha 2
IAGP
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 6:137,143,820...137,173,644
Ensembl chr 6:137,143,820...137,173,648
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MAP3K5
mitogen-activated protein kinase kinase kinase 5
IAGP
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 6:136,557,046...136,793,091
Ensembl chr 6:136,557,046...136,793,097
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MAP7
microtubule associated protein 7
IAGP
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 6:136,342,734...136,550,422
Ensembl chr 6:136,342,281...136,550,819
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MTFR2
mitochondrial fission regulator 2
IAGP
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 6:136,231,034...136,250,311
Ensembl chr 6:136,231,024...136,250,335
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PDE7B
phosphodiesterase 7B
IAGP
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 6:135,851,701...136,195,574
Ensembl chr 6:135,851,701...136,195,574
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PEX7
peroxisomal biogenesis factor 7
IAGP
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934
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SLC35D3
solute carrier family 35 member D3
IAGP
ClinVar Annotator: match by term: Immunodeficiency 27A
ClinVar
PMID:28492532
NCBI chr 6:136,922,301...136,925,660
Ensembl chr 6:136,922,301...136,925,660
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ANKAR
ankyrin and armadillo repeat containing
IAGP
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 2:189,674,670...189,763,059
Ensembl chr 2:189,674,290...189,761,193
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ASNSD1
asparagine synthetase domain containing 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 2:189,661,459...189,670,831
Ensembl chr 2:189,661,385...189,670,831
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C2orf88
chromosome 2 open reading frame 88
IAGP
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 2:189,879,562...190,203,484
Ensembl chr 2:189,879,609...190,203,484
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COL3A1
collagen type III alpha 1 chain
IAGP
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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COL5A2
collagen type V alpha 2 chain
IAGP
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 2:189,031,898...189,441,111
Ensembl chr 2:189,031,898...189,225,312
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GLS
glutaminase
IAGP
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 2:190,880,821...190,965,552
Ensembl chr 2:190,880,821...190,965,552
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HIBCH
3-hydroxyisobutyryl-CoA hydrolase
IAGP
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 2:190,189,735...190,319,826
Ensembl chr 2:190,189,735...190,344,193
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INPP1
inositol polyphosphate-1-phosphatase
IAGP
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 2:190,343,589...190,371,665
Ensembl chr 2:190,343,570...190,371,665
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MFSD6
major facilitator superfamily domain containing 6
IAGP
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 2:190,407,576...190,502,314
Ensembl chr 2:190,408,355...190,509,205
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MSTN
myostatin
IAGP
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 2:190,055,700...190,062,729
Ensembl chr 2:190,055,700...190,062,729
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NAB1
NGFI-A binding protein 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 2:190,648,895...190,692,766
Ensembl chr 2:190,646,746...190,692,766
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NEMP2
nuclear envelope integral membrane protein 2
IAGP
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 2:190,421,421...190,648,785
Ensembl chr 2:190,504,338...190,534,722
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ORMDL1
ORMDL sphingolipid biosynthesis regulator 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 2:189,763,859...189,784,339
Ensembl chr 2:189,770,267...189,784,364
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OSGEPL1
O-sialoglycoprotein endopeptidase like 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 2:189,746,660...189,763,198
Ensembl chr 2:189,746,660...189,763,227
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PMS1
PMS1 homolog 1, mismatch repair system component
IAGP
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,877,629
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SLC40A1
solute carrier family 40 member 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758
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STAT1
signal transducer and activator of transcription 1
IAGP EXP
ClinVar Annotator: match by term: Immunodeficiency 31B ClinVar Annotator: match by term: IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Immunodeficiency 31B | ClinVar Annotator: match by term: Mycobacterial and viral infections, susceptibility to, autosomal recessive CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:9536098 PMID:12590259 PMID:16199547 PMID:16585605 PMID:17576681 PMID:19436109 PMID:20841510 PMID:21714643 PMID:21727188 PMID:22195034 PMID:22208278 PMID:22651901 PMID:22730530 PMID:22847544 PMID:23245795 PMID:23403048 PMID:23534974 PMID:23541320 PMID:23585529 PMID:23709754 PMID:24033266 PMID:24188975 PMID:24239102 PMID:24343863 PMID:25042743 PMID:25326637 PMID:25367169 PMID:25662309 PMID:25741868 PMID:26242301 PMID:26255980 PMID:26467763 PMID:26479788 PMID:26494717 PMID:26513235 PMID:26604104 PMID:26732859 PMID:26743090 PMID:26938784 PMID:26948078 PMID:27063510 PMID:27114460 PMID:27117246 PMID:27146670 PMID:27379765 PMID:27577878 PMID:27808400 PMID:28011069 PMID:28161409 PMID:28258222 PMID:28367431 PMID:28427548 PMID:28492532 PMID:28597685 PMID:28601685 PMID:28622416 PMID:28753426 PMID:28815025 PMID:28859974 PMID:29111217 PMID:29317535 PMID:30030262 PMID:30131873 PMID:30442829 PMID:31114772 PMID:31354696 PMID:31362757 PMID:31367980 PMID:31448411 PMID:31677808 PMID:31686315 PMID:32135276 PMID:32506361 PMID:32582194 PMID:32603902 PMID:32888943 PMID:33096415 PMID:33225392 PMID:33679782 PMID:34093558 PMID:34114647 PMID:34134972 PMID:34718945 PMID:35126392 PMID:35960392 PMID:35976469 PMID:36336768 More...
NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
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STAT4
signal transducer and activator of transcription 4
IAGP
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:22651901 PMID:28492532
NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
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WDR75
WD repeat domain 75
IAGP
ClinVar Annotator: match by term: Immunodeficiency 31B
ClinVar
PMID:28492532
NCBI chr 2:189,441,474...189,475,552
Ensembl chr 2:189,441,446...189,475,552
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ABCD1
ATP binding cassette subfamily D member 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,724,856...153,744,755
Ensembl chr X:153,724,856...153,744,755
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ARHGAP4
Rho GTPase activating protein 4
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,907,378...153,926,264
Ensembl chr X:153,907,367...153,934,999
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ATP2B3
ATPase plasma membrane Ca2+ transporting 3
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,517,642...153,582,929
Ensembl chr X:153,517,642...153,582,939
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ATP6AP1
ATPase H+ transporting accessory protein 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,428,677...154,436,516
Ensembl chr X:154,428,633...154,436,516
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ATP6AP1-DT
ATP6AP1 divergent transcript
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,424,380...154,428,479
Ensembl chr X:154,424,378...154,428,526
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AVPR2
arginine vasopressin receptor 2
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,902,625...153,907,166
Ensembl chr X:153,902,531...153,907,166
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BCAP31
B cell receptor associated protein 31
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,700,492...153,724,387
Ensembl chr X:153,700,492...153,724,565
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BGN
biglycan
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,494,980...153,509,546
Ensembl chr X:153,494,980...153,509,546
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BRCC3
BRCA1/BRCA2-containing complex subunit 3
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,071,508...155,123,077
Ensembl chr X:155,071,420...155,123,077
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CCNQ
cyclin Q
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,587,925...153,599,139
Ensembl chr X:153,587,925...153,600,045
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CLIC2
chloride intracellular channel 2
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,276,211...155,334,614
Ensembl chr X:155,276,211...155,334,657
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CMC4
C-X9-C motif containing 4
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,061,622...155,071,136
Ensembl chr X:155,061,622...155,071,136
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CTAG1A
cancer/testis antigen 1A
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,585,133...154,586,816
Ensembl chr X:154,585,133...154,586,816
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CTAG1B
cancer/testis antigen 1B
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,617,609...154,619,282
Ensembl chr X:154,617,609...154,619,282
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CTAG2
cancer/testis antigen 2
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,651,977...154,653,579
Ensembl chr X:154,651,972...154,653,579
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DKC1
dyskerin pseudouridine synthase 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689
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DNASE1L1
deoxyribonuclease 1 like 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,401,236...154,412,101
Ensembl chr X:154,401,236...154,412,112
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DUSP9
dual specificity phosphatase 9
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,642,441...153,651,326
Ensembl chr X:153,642,492...153,651,326
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EMD
emerin
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,379,295...154,381,523
Ensembl chr X:154,379,273...154,381,574
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F8
coagulation factor VIII
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,835,792...155,022,723
Ensembl chr X:154,835,788...155,026,940
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F8A1
coagulation factor VIII associated 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,886,355...154,888,061
Ensembl chr X:154,886,355...154,888,061
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F8A2
coagulation factor VIII associated 2
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,382,095...155,383,801
Ensembl chr X:155,382,095...155,383,801
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F8A3
coagulation factor VIII associated 3
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,456,914...155,458,620
Ensembl chr X:155,456,914...155,458,620
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FAM223A
family with sequence similarity 223 member A
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,571,248...154,571,960
Ensembl chr X:154,571,248...154,571,960
G
FAM223B
family with sequence similarity 223 member B
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,632,470...154,633,182
Ensembl chr X:154,632,470...154,633,182
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FAM3A
FAM3 metabolism regulating signaling molecule A
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,506,171...154,516,232
Ensembl chr X:154,506,159...154,516,242
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FAM50A
family with sequence similarity 50 member A
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,444,141...154,450,654
Ensembl chr X:154,444,141...154,450,654
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FLNA
filamin A
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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FUNDC2
FUN14 domain containing 2
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,026,844...155,060,304
Ensembl chr X:155,025,980...155,060,304
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G6PD
glucose-6-phosphate dehydrogenase
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,531,390...154,547,569
Ensembl chr X:154,517,825...154,547,572
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GAB3
GRB2 associated binding protein 3
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,675,249...154,751,566
Ensembl chr X:154,675,249...154,751,583
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GDI1
GDP dissociation inhibitor 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,437,154...154,443,467
Ensembl chr X:154,436,913...154,443,467
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H2AB1
H2A.B variant histone 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,884,972...154,885,558
Ensembl chr X:154,884,972...154,885,558
G
H2AB2
H2A.B variant histone 2
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,380,709...155,381,299
Ensembl chr X:155,380,709...155,381,299
G
H2AB3
H2A.B variant histone 3
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,459,415...155,460,005
Ensembl chr X:155,459,415...155,460,005
G
HAUS7
HAUS augmin like complex subunit 7
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,447,668...153,495,465
Ensembl chr X:153,447,668...153,495,516
G
HCFC1
host cell factor C1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,947,557...153,971,818
Ensembl chr X:153,947,557...153,971,818
G
HCFC1-AS1
HCFC1 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,968,765...153,970,091
Ensembl chr X:153,969,325...153,970,087
G
IDH3G
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,785,768...153,794,375
Ensembl chr X:153,785,766...153,794,512
G
IKBKG
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
IAGP EXP
ClinVar Annotator: match by term: Immunodeficiency 33 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11590134 PMID:15229184 PMID:16950813 PMID:18222329 PMID:20529958 PMID:25741868 PMID:28993958 PMID:30422821 PMID:31965418 PMID:33224153 More...
NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046
G
IL9R
interleukin 9 receptor
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,997,696...156,013,020 NCBI chr Y:57,184,072...57,197,869
Ensembl chr Y:57,184,216...57,197,337 Ensembl chr X:57,184,216...57,197,337
G
IRAK1
interleukin 1 receptor associated kinase 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,010,507...154,019,902
Ensembl chr X:154,010,506...154,019,902
G
L1CAM
L1 cell adhesion molecule
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,861,514...153,886,173
Ensembl chr X:153,861,514...153,886,173
G
L1CAM-AS1
L1CAM antisense RNA 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,880,672...153,888,990
Ensembl chr X:153,880,672...153,888,990
G
LAGE3
L antigen family member 3
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,477,775...154,479,281
Ensembl chr X:154,477,775...154,479,281
G
LOC101927830
uncharacterized LOC101927830
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,347,137...155,374,174
G
LOC106146143
int1h-1 recombination region
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,006,107...155,007,182
G
LOC106146144
int1h-2 recombination region
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,147,688...155,149,673
G
LOC106146150
int22h-1 recombination region
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,880,819...154,890,330
G
LOC106146151
int22h-2 recombination region
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,376,510...155,386,062
G
LOC106146152
int22h-3 recombination region
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,454,648...155,464,204
G
LOC107181288
origin of replication in promoter of G6PD
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,546,511...154,547,759
G
LOC107522039
meiotic recombination hotspot PAR2
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,764,858...155,769,660 NCBI chr Y:56,951,378...56,956,180
G
LOC107838685
meiotic recombination hotspot PAR2A
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,747,397...155,751,379 NCBI chr Y:56,933,917...56,937,899
G
LOC107988021
IKBKG recombination region
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,556,498...154,558,301
G
LOC107988022
IKBKG downstream recombination region
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,568,820...154,569,698
G
LOC107988024
IKBKGP1 recombination region
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,646,128...154,647,897
G
LOC107988025
IKBKGP1 upstream recombination region
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,634,732...154,635,610
G
LOC107988032
Xq28 proximal FLNA-EMD recombination region
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,335,912...154,349,572
G
LOC107988033
Xq28 distal FLNA-EMD recombination region
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,383,318...154,396,246
G
LOC108281126
G6PD and IKBKG intron CAGE-defined low expression enhancer
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,541,534...154,543,269
G
LOC111365170
NFE2L2 motif-containing MPRA enhancer 190/191
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,002,271...154,002,417
G
LOC111589209
HNF4 motif-containing MPRA enhancer 232
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,626,998...153,627,142
G
LOC113875014
Sharpr-MPRA regulatory region 9358
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,470,628...153,471,105
G
LOC113875015
Sharpr-MPRA regulatory region 12525
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,719,354...154,719,648
G
LOC113875016
H3K27ac hESC enhancer GRCh37_chrX:154444390-154445178
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,216,113...155,216,901
G
LOC116309161
CRISPRi-validated cis-regulatory element chrX.2654
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,800,709...153,800,983
G
LOC116309162
CRISPRi-validated cis-regulatory element chrX.2695
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,985,283...153,986,017
G
LOC121627985
Sharpr-MPRA regulatory region 11639
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,529,334...154,529,628
G
LOC121627986
H3K4me1 hESC enhancer GRCh37_chrX:154285543-154286044
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,057,268...155,057,769
G
LOC121853071
Sharpr-MPRA regulatory region 5891
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,708,414...153,708,708
G
LOC121853072
Sharpr-MPRA regulatory region 3405
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,472,206...154,472,500
G
LOC125467793
Sharpr-MPRA regulatory region 3572
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,136,674...154,136,968
G
LOC125467794
Sharpr-MPRA regulatory region 13577
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,730,754...154,731,048
G
LOC125467795
Sharpr-MPRA regulatory region 4209
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,007,074...155,007,368
G
LOC126863349
P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:154195537-154196736
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,967,262...154,968,461
G
LOC129929050
ATAC-STARR-seq lymphoblastoid active region 30056
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,347,494...154,347,633
G
LOC129929051
ATAC-STARR-seq lymphoblastoid active region 30057
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,347,664...154,347,753
G
LOC129929052
ATAC-STARR-seq lymphoblastoid silent region 21114
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,546,728...154,547,287
G
LOC130068821
ATAC-STARR-seq lymphoblastoid active region 30033
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,469,868...153,470,047
G
LOC130068822
ATAC-STARR-seq lymphoblastoid active region 30034
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,470,198...153,470,297
G
LOC130068823
ATAC-STARR-seq lymphoblastoid active region 30035
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,507,438...153,507,537
G
LOC130068824
ATAC-STARR-seq lymphoblastoid active region 30036
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,507,618...153,507,667
G
LOC130068825
ATAC-STARR-seq lymphoblastoid silent region 21064
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,598,850...153,599,209
G
LOC130068826
ATAC-STARR-seq lymphoblastoid silent region 21065
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,599,220...153,599,269
G
LOC130068827
ATAC-STARR-seq lymphoblastoid silent region 21066
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,599,370...153,599,509
G
LOC130068828
ATAC-STARR-seq lymphoblastoid silent region 21067
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,609,979...153,610,088
G
LOC130068829
ATAC-STARR-seq lymphoblastoid silent region 21068
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,669,489...153,669,538
G
LOC130068830
ATAC-STARR-seq lymphoblastoid silent region 21069
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,723,666...153,723,845
G
LOC130068831
ATAC-STARR-seq lymphoblastoid silent region 21070
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,724,056...153,725,015
G
LOC130068832
ATAC-STARR-seq lymphoblastoid active region 30037
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,726,574...153,726,863
G
LOC130068833
ATAC-STARR-seq lymphoblastoid active region 30038
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,727,134...153,727,293
G
LOC130068834
ATAC-STARR-seq lymphoblastoid active region 30039
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,727,314...153,727,483
G
LOC130068835
ATAC-STARR-seq lymphoblastoid silent region 21072
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,819,045...153,819,204
G
LOC130068836
ATAC-STARR-seq lymphoblastoid active region 30041
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,879,535...153,879,594
G
LOC130068837
ATAC-STARR-seq lymphoblastoid active region 30042
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,924,431...153,924,560
G
LOC130068838
ATAC-STARR-seq lymphoblastoid silent region 21073
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,926,019...153,926,608
G
LOC130068839
ATAC-STARR-seq lymphoblastoid silent region 21074
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,928,019...153,928,578
G
LOC130068840
ATAC-STARR-seq lymphoblastoid silent region 21075
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,934,727...153,935,306
G
LOC130068841
ATAC-STARR-seq lymphoblastoid active region 30043
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,944,486...153,944,615
G
LOC130068842
ATAC-STARR-seq lymphoblastoid active region 30044
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,953,453...153,953,692
G
LOC130068843
ATAC-STARR-seq lymphoblastoid active region 30045
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,970,189...153,970,428
G
LOC130068844
ATAC-STARR-seq lymphoblastoid silent region 21077
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,971,899...153,972,138
G
LOC130068845
ATAC-STARR-seq lymphoblastoid silent region 21078
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,972,369...153,972,818
G
LOC130068846
ATAC-STARR-seq lymphoblastoid silent region 21079
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,972,929...153,973,038
G
LOC130068847
ATAC-STARR-seq lymphoblastoid active region 30047
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,980,474...153,980,583
G
LOC130068848
ATAC-STARR-seq lymphoblastoid active region 30048
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,984,391...153,984,440
G
LOC130068849
ATAC-STARR-seq lymphoblastoid silent region 21080
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,019,272...154,019,341
G
LOC130068850
ATAC-STARR-seq lymphoblastoid silent region 21081
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,019,352...154,019,451
G
LOC130068851
ATAC-STARR-seq lymphoblastoid active region 30052
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,020,952...154,021,021
G
LOC130068852
ATAC-STARR-seq lymphoblastoid active region 30053
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,096,733...154,096,822
G
LOC130068853
ATAC-STARR-seq lymphoblastoid silent region 21083
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,097,143...154,097,222
G
LOC130068854
ATAC-STARR-seq lymphoblastoid silent region 21085
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,097,643...154,098,002
G
LOC130068855
ATAC-STARR-seq lymphoblastoid active region 30055
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,334,073...154,334,292
G
LOC130068856
ATAC-STARR-seq lymphoblastoid silent region 21086
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,369,426...154,369,505
G
LOC130068857
ATAC-STARR-seq lymphoblastoid silent region 21087
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,370,446...154,370,745
G
LOC130068858
ATAC-STARR-seq lymphoblastoid silent region 21093
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,372,909...154,372,968
G
LOC130068859
ATAC-STARR-seq lymphoblastoid active region 30059
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,373,372...154,373,421
G
LOC130068860
ATAC-STARR-seq lymphoblastoid silent region 21094
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,374,511...154,374,570
G
LOC130068861
ATAC-STARR-seq lymphoblastoid silent region 21095
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,374,581...154,374,720
G
LOC130068862
ATAC-STARR-seq lymphoblastoid silent region 21096
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,378,386...154,378,515
G
LOC130068863
ATAC-STARR-seq lymphoblastoid silent region 21097
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,378,536...154,378,955
G
LOC130068864
ATAC-STARR-seq lymphoblastoid silent region 21098
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,378,966...154,379,265
G
LOC130068865
ATAC-STARR-seq lymphoblastoid silent region 21099
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,397,420...154,397,599
G
LOC130068866
ATAC-STARR-seq lymphoblastoid silent region 21100
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,397,670...154,397,739
G
LOC130068867
ATAC-STARR-seq lymphoblastoid active region 30060
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,398,300...154,398,509
G
LOC130068868
ATAC-STARR-seq lymphoblastoid active region 30061
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,402,470...154,402,669
G
LOC130068869
ATAC-STARR-seq lymphoblastoid silent region 21101
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,411,526...154,412,065
G
LOC130068870
ATAC-STARR-seq lymphoblastoid silent region 21104
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,444,329...154,444,538
G
LOC130068871
ATAC-STARR-seq lymphoblastoid silent region 21105
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,444,549...154,444,638
G
LOC130068872
ATAC-STARR-seq lymphoblastoid active region 30062
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,457,689...154,457,758
G
LOC130068873
ATAC-STARR-seq lymphoblastoid silent region 21106
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,457,849...154,458,018
G
LOC130068874
ATAC-STARR-seq lymphoblastoid silent region 21107
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,458,149...154,458,388
G
LOC130068875
ATAC-STARR-seq lymphoblastoid silent region 21108
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,458,629...154,458,698
G
LOC130068876
ATAC-STARR-seq lymphoblastoid silent region 21109
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,478,675...154,478,894
G
LOC130068877
ATAC-STARR-seq lymphoblastoid active region 30063
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,481,991...154,482,050
G
LOC130068878
ATAC-STARR-seq lymphoblastoid active region 30064
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,487,159...154,487,218
G
LOC130068879
ATAC-STARR-seq lymphoblastoid silent region 21112
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,490,352...154,490,861
G
LOC130068880
ATAC-STARR-seq lymphoblastoid active region 30065
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,526,844...154,526,993
G
LOC130068881
ATAC-STARR-seq lymphoblastoid active region 30067
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,547,728...154,548,007
G
LOC130068882
ATAC-STARR-seq lymphoblastoid silent region 21115
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,715,096...154,715,205
G
LOC130068883
ATAC-STARR-seq lymphoblastoid silent region 21116
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,750,723...154,750,782
G
LOC130068884
ATAC-STARR-seq lymphoblastoid silent region 21117
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,750,953...154,751,032
G
LOC130068885
ATAC-STARR-seq lymphoblastoid active region 30068
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,762,485...154,762,544
G
LOC130068886
ATAC-STARR-seq lymphoblastoid silent region 21118
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,762,645...154,762,944
G
LOC130068887
ATAC-STARR-seq lymphoblastoid active region 30069
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,763,295...154,763,394
G
LOC130068888
ATAC-STARR-seq lymphoblastoid silent region 21119
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,805,450...154,805,609
G
LOC130068889
ATAC-STARR-seq lymphoblastoid active region 30070
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,827,852...154,827,931
G
LOC130068890
ATAC-STARR-seq lymphoblastoid active region 30071
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,827,952...154,828,001
G
LOC130068891
ATAC-STARR-seq lymphoblastoid active region 30072
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,980,910...154,980,959
G
LOC130068892
ATAC-STARR-seq lymphoblastoid active region 30073
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,981,060...154,981,109
G
LOC130068893
ATAC-STARR-seq lymphoblastoid silent region 21120
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,026,665...155,026,754
G
LOC130068894
ATAC-STARR-seq lymphoblastoid silent region 21121
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,027,025...155,027,344
G
LOC130068895
ATAC-STARR-seq lymphoblastoid active region 30074
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,070,764...155,071,063
G
LOC130068896
ATAC-STARR-seq lymphoblastoid silent region 21124
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,264,269...155,264,478
G
LOC130068897
ATAC-STARR-seq lymphoblastoid silent region 21125
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,264,489...155,264,538
G
LOC130068898
ATAC-STARR-seq lymphoblastoid active region 30078
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,632,598...155,632,647
G
MECP2
methyl-CpG binding protein 2
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103
G
MIR1184-1
microRNA 1184-1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,887,360...154,887,458
Ensembl chr X:154,887,360...154,887,458
G
MIR1184-2
microRNA 1184-2
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,383,100...155,383,198
Ensembl chr X:155,383,100...155,383,198
G
MIR1184-3
microRNA 1184-3
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,457,517...155,457,615
Ensembl chr X:155,457,517...155,457,615
G
MIR3202-1
microRNA 3202-1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,981,097...153,981,177
Ensembl chr X:153,981,097...153,981,177
G
MIR3202-2
microRNA 3202-2
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,981,098...153,981,176
Ensembl chr X:153,981,098...153,981,176
G
MIR664B
microRNA 664b
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,768,596...154,768,656
Ensembl chr X:154,768,596...154,768,656
G
MIR6858
microRNA 6858
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,450,320...154,450,386
Ensembl chr X:154,450,320...154,450,386
G
MIR718
microRNA 718
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,019,920...154,019,989
Ensembl chr X:154,019,920...154,019,989
G
MPP1
MAGUK p55 scaffold protein 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,778,684...154,805,485
Ensembl chr X:154,778,684...154,821,007
G
MRFAP1P1
MRFAP1 pseudogene 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,599,340...153,599,893
Ensembl chr X:153,599,315...153,613,937
G
MTCP1
mature T cell proliferation 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,064,034...155,071,136
Ensembl chr X:155,064,034...155,147,937
G
NAA10
N-alpha-acetyltransferase 10, NatA catalytic subunit
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080
G
OPN1LW
opsin 1, long wave sensitive
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,144,243...154,159,032
Ensembl chr X:154,144,243...154,159,032
G
OPN1MW
opsin 1, medium wave sensitive
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,182,596...154,196,861
Ensembl chr X:154,182,596...154,196,861
G
OPN1MW2
opsin 1, medium wave sensitive 2
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,219,756...154,233,286
Ensembl chr X:154,219,756...154,233,286
G
OPN1MW3
opsin 1, medium wave sensitive 3
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,257,582...154,271,090
Ensembl chr X:154,257,582...154,271,090
G
OPSIN-LCR
opsin locus control region
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,137,727...154,144,286
G
PDZD4
PDZ domain containing 4
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,802,166...153,830,544
Ensembl chr X:153,802,166...153,830,565
G
PLXNA3
plexin A3
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,458,281...154,477,779
Ensembl chr X:154,458,281...154,477,779
G
PLXNB3
plexin B3
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,764,249...153,779,341
Ensembl chr X:153,764,196...153,779,346
G
PLXNB3-AS1
PLXNB3 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,758,067...153,766,526
G
PNCK
pregnancy up-regulated nonubiquitous CaM kinase
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,669,733...153,687,771
Ensembl chr X:153,669,733...153,689,010
G
RAB39B
RAB39B, member RAS oncogene family
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,258,235...155,264,491
Ensembl chr X:155,258,235...155,264,491
G
RENBP
renin binding protein
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,935,269...153,944,643
Ensembl chr X:153,935,269...153,944,687
G
RPL10
ribosomal protein L10
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,398,065...154,402,339
Ensembl chr X:154,389,955...154,409,168
G
SLC10A3
solute carrier family 10 member 3
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,487,311...154,490,629
Ensembl chr X:154,487,306...154,490,690
G
SLC6A8
solute carrier family 6 member 8
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,687,926...153,696,593
Ensembl chr X:153,687,926...153,696,588
G
SMIM9
small integral membrane protein 9
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,823,348...154,834,662
Ensembl chr X:154,823,348...154,834,662
G
SNORA36A
small nucleolar RNA, H/ACA box 36A
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,768,528...154,768,659
Ensembl chr X:154,768,528...154,768,659
G
SNORA56
small nucleolar RNA, H/ACA box 56
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,774,998...154,775,126
Ensembl chr X:154,774,998...154,775,126
G
SNORA70
small nucleolar RNA, H/ACA box 70
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,400,281...154,400,415
Ensembl chr X:154,400,281...154,400,415
G
SPRY3
sprouty RTK signaling antagonist 3
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,612,586...155,782,459 NCBI chr Y:56,923,423...56,968,979
Ensembl chr X:155,612,572...155,782,459
G
SRPK3
SRSF protein kinase 3
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,781,041...153,785,730
Ensembl chr X:153,776,412...153,785,732
G
SSR4
signal sequence receptor subunit 4
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,794,159...153,798,512
Ensembl chr X:153,793,516...153,798,499
G
TAFAZZIN
tafazzin, phospholipid-lysophospholipid transacylase
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,411,539...154,421,726
Ensembl chr X:154,411,524...154,421,726
G
TEX28
testis expressed 28
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,271,265...154,295,211
Ensembl chr X:154,271,265...154,295,853
G
TKTL1
transketolase like 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,295,795...154,330,350
Ensembl chr X:154,295,795...154,330,350
G
TMEM187
transmembrane protein 187
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,972,754...153,983,194
Ensembl chr X:153,972,754...153,983,194
G
TMLHE
trimethyllysine hydroxylase, epsilon
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,489,011...155,612,952
Ensembl chr X:155,489,011...155,719,098
G
TMLHE-AS1
TMLHE antisense RNA 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,466,540...155,494,110
Ensembl chr X:155,466,540...155,611,616
G
TREX2
three prime repair exonuclease 2
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:153,444,473...153,446,056
Ensembl chr X:153,444,473...153,470,587
G
UBL4A
ubiquitin like 4A
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:154,483,717...154,486,615
Ensembl chr X:154,483,717...154,486,615
G
VAMP7
vesicle associated membrane protein 7
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,881,345...155,943,769 NCBI chr Y:57,067,865...57,130,289
Ensembl chr Y:57,067,865...57,130,289 Ensembl chr X:57,067,865...57,130,289
G
VBP1
VHL binding protein 1
IAGP
ClinVar Annotator: match by term: Immunodeficiency 33
ClinVar
PMID:25741868
NCBI chr X:155,197,007...155,239,841
Ensembl chr X:155,197,007...155,239,841
G
CYBB
cytochrome b-245 beta chain
IAGP EXP
ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:9536098 PMID:9585602 PMID:10089913 PMID:10914676 PMID:11435314 PMID:12139950 PMID:17293536 PMID:17576681 PMID:18546332 PMID:19483051 PMID:21278736 PMID:23193493 PMID:24276928 PMID:25741868 PMID:28492532 PMID:29560547 PMID:30470980 More...
NCBI chr X:37,780,059...37,813,461
Ensembl chr X:37,780,018...37,813,461
G
ACAP3
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,292,391...1,307,930
Ensembl chr 1:1,292,390...1,309,609
G
ACTRT2
actin related protein T2
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:3,021,467...3,022,903
Ensembl chr 1:3,021,467...3,022,903
G
AGRN
agrin
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118
G
ANKRD65
ankyrin repeat domain 65
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,418,420...1,421,276
Ensembl chr 1:1,418,420...1,421,769
G
ARHGEF16
Rho guanine nucleotide exchange factor 16
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:3,454,665...3,481,113
Ensembl chr 1:3,454,665...3,481,113
G
ATAD3A
ATPase family AAA domain containing 3A
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685
G
ATAD3B
ATPase family AAA domain containing 3B
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,471,765...1,509,466
Ensembl chr 1:1,471,765...1,497,848
G
ATAD3C
ATPase family AAA domain containing 3C
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,449,689...1,470,163
Ensembl chr 1:1,449,689...1,470,163
G
AURKAIP1
aurora kinase A interacting protein 1
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,373,736...1,375,207
Ensembl chr 1:1,373,730...1,375,207
G
B3GALT6
beta-1,3-galactosyltransferase 6
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
G
C1orf159
chromosome 1 open reading frame 159
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,081,823...1,116,089
Ensembl chr 1:1,081,818...1,116,361
G
C1QTNF12
C1q and TNF related 12
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,242,453...1,247,280
Ensembl chr 1:1,242,446...1,246,722
G
CALML6
calmodulin like 6
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,915,260...1,917,296
Ensembl chr 1:1,915,108...1,917,296
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CCDC27
coiled-coil domain containing 27
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:3,752,450...3,771,645
Ensembl chr 1:3,746,460...3,771,645
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CCNL2
cyclin L2
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,385,711...1,399,335
Ensembl chr 1:1,385,711...1,399,335
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CDK11A
cyclin dependent kinase 11A
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,702,379...1,724,357
Ensembl chr 1:1,702,379...1,724,357
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CDK11B
cyclin dependent kinase 11B
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,635,225...1,659,004
Ensembl chr 1:1,635,225...1,659,012
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CEP104
centrosomal protein 104
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:3,812,086...3,857,211
Ensembl chr 1:3,812,086...3,857,396
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CFAP74
cilia and flagella associated protein 74
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837
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CPTP
ceramide-1-phosphate transfer protein
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,324,802...1,328,896
Ensembl chr 1:1,324,756...1,328,896
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DVL1
dishevelled segment polarity protein 1
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
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FAAP20
FA core complex associated protein 20
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:2,184,477...2,212,720
Ensembl chr 1:2,184,461...2,212,720
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FNDC10
fibronectin type III domain containing 10
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,598,012...1,600,135
Ensembl chr 1:1,598,012...1,600,135
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GABRD
gamma-aminobutyric acid type A receptor subunit delta
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
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GNB1
G protein subunit beta 1
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292
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HES4
hes family bHLH transcription factor 4
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:998,964...1,000,097
Ensembl chr 1:998,962...1,000,172
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HES5
hes family bHLH transcription factor 5
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:2,528,745...2,530,263
Ensembl chr 1:2,528,745...2,530,263
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INTS11
integrator complex subunit 11
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687
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ISG15
ISG15 ubiquitin like modifier
IAGP EXP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 PMID:21031596 PMID:22859821 PMID:24033266 PMID:25307056 PMID:25741868 PMID:26477546 PMID:28492532 PMID:31674007 PMID:32402279 More...
NCBI chr 1:1,013,497...1,014,540
Ensembl chr 1:1,001,138...1,014,540
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KLHL17
kelch like family member 17
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:960,584...965,719
Ensembl chr 1:960,584...965,719
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LRRC47
leucine rich repeat containing 47
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:3,778,559...3,796,498
Ensembl chr 1:3,778,559...3,796,498
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MEGF6
multiple EGF like domains 6
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:3,487,951...3,624,786
Ensembl chr 1:3,487,951...3,611,508
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MIB2
MIB E3 ubiquitin protein ligase 2
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,613,731...1,630,605
Ensembl chr 1:1,615,454...1,630,605
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MIR200A
microRNA 200a
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,167,863...1,167,952
Ensembl chr 1:1,167,863...1,167,952
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MIR200B
microRNA 200b
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198
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MIR429
microRNA 429
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,169,005...1,169,087
Ensembl chr 1:1,169,005...1,169,087
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MIR551A
microRNA 551a
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:3,560,695...3,560,790
Ensembl chr 1:3,560,695...3,560,790
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MMEL1
membrane metalloendopeptidase like 1
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016
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MMP23B
matrix metallopeptidase 23B
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263
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MORN1
MORN repeat containing 1
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:2,321,253...2,391,554
Ensembl chr 1:2,321,253...2,391,707
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MRPL20
mitochondrial ribosomal protein L20
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,401,909...1,407,293
Ensembl chr 1:1,401,909...1,407,293
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MXRA8
matrix remodeling associated 8
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,352,689...1,363,541
Ensembl chr 1:1,352,689...1,361,777
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NADK
NAD kinase
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,751,232...1,780,514
Ensembl chr 1:1,751,232...1,780,457
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NOC2L
NOC2 like nucleolar associated transcriptional repressor
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:944,203...959,256
Ensembl chr 1:944,203...959,309
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PANK4
pantothenate kinase 4 (inactive)
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:2,508,537...2,526,596
Ensembl chr 1:2,508,537...2,526,597
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PEX10
peroxisomal biogenesis factor 10
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797
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PLCH2
phospholipase C eta 2
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:2,415,943...2,505,532
Ensembl chr 1:2,425,980...2,505,532
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PLEKHN1
pleckstrin homology domain containing N1
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:966,482...975,865
Ensembl chr 1:966,482...975,865
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PRDM16
PR/SET domain 16
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
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PRKCZ
protein kinase C zeta
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
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PRXL2B
peroxiredoxin like 2B
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:2,586,523...2,591,468
Ensembl chr 1:2,586,491...2,591,469
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PUSL1
pseudouridine synthase like 1
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,308,597...1,311,677
Ensembl chr 1:1,308,597...1,311,677
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RER1
retention in endoplasmic reticulum sorting receptor 1
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:2,391,841...2,405,436
Ensembl chr 1:2,391,775...2,405,442
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RNF223
ring finger protein 223
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,070,967...1,074,306
Ensembl chr 1:1,070,967...1,074,306
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SAMD11
sterile alpha motif domain containing 11
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:923,923...944,574
Ensembl chr 1:923,923...944,575
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SCNN1D
sodium channel epithelial 1 subunit delta
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,280,436...1,292,025
Ensembl chr 1:1,280,436...1,292,029
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SDF4
stromal cell derived factor 4
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,216,931...1,232,001
Ensembl chr 1:1,216,931...1,232,031
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SKI
SKI proto-oncogene
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
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SLC35E2A
solute carrier family 35 member E2A (pseudogene)
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,727,385...1,746,070
Ensembl chr 1:1,734,690...1,739,557
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SLC35E2B
solute carrier family 35 member E2B
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,661,478...1,692,795
Ensembl chr 1:1,659,529...1,692,795
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SMIM1
small integral membrane protein 1 (Vel blood group)
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:3,772,749...3,775,956
Ensembl chr 1:3,772,749...3,775,982
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SSU72
SSU72 homolog, RNA polymerase II CTD phosphatase
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,541,673...1,574,863
Ensembl chr 1:1,541,673...1,574,863
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TAS1R3
taste 1 receptor member 3
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,331,280...1,335,314
Ensembl chr 1:1,331,280...1,335,314
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TMEM240
transmembrane protein 240
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,534,778...1,540,624
Ensembl chr 1:1,534,778...1,540,624
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TMEM52
transmembrane protein 52
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,917,591...1,919,279
Ensembl chr 1:1,917,590...1,919,279
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TMEM88B
transmembrane protein 88B
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,425,871...1,430,255
Ensembl chr 1:1,425,871...1,430,255
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TNFRSF14
TNF receptor superfamily member 14
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:2,554,234...2,563,829
Ensembl chr 1:2,555,639...2,565,382
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TNFRSF18
TNF receptor superfamily member 18
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,203,508...1,206,592
Ensembl chr 1:1,203,508...1,206,592
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TNFRSF4
TNF receptor superfamily member 4
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,211,340...1,214,153
Ensembl chr 1:1,211,326...1,214,153
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TP73
tumor protein p73
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
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TPRG1L
tumor protein p63 regulated 1 like
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:3,625,015...3,630,127
Ensembl chr 1:3,625,015...3,630,127
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TTC34
tetratricopeptide repeat domain 34
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:2,636,986...2,801,693
Ensembl chr 1:2,636,986...2,801,693
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TTLL10
tubulin tyrosine ligase like 10
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,173,880...1,197,936
Ensembl chr 1:1,173,880...1,197,936
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UBE2J2
ubiquitin conjugating enzyme E2 J2
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,253,912...1,273,854
Ensembl chr 1:1,253,909...1,273,864
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VWA1
von Willebrand factor A domain containing 1
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:1,435,690...1,442,882
Ensembl chr 1:1,434,861...1,442,882
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WRAP73
WD repeat containing, antisense to TP73
IAGP
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ClinVar
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
NCBI chr 1:3,630,770...3,650,103
Ensembl chr 1:3,630,767...3,652,761
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IRAK4
interleukin 1 receptor associated kinase 4
IAGP EXP
ClinVar Annotator: match by term: Immunodeficiency 67 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Invasive pneumococcal disease, recurrent isolated
ClinVar CTD OMIM
PMID:9536098 PMID:9789052 PMID:12637671 PMID:12925671 PMID:15520784 PMID:16199547 PMID:16647421 PMID:16950813 PMID:17114497 PMID:17312103 PMID:17544092 PMID:17576681 PMID:17878374 PMID:17893200 PMID:19663824 PMID:19814626 PMID:20621347 PMID:21057262 PMID:23538514 PMID:24033266 PMID:24316379 PMID:25344726 PMID:25741868 PMID:26472314 PMID:26698383 PMID:26825884 PMID:28492532 PMID:30073964 PMID:33083971 More...
NCBI chr12:43,758,951...43,789,541
Ensembl chr12:43,758,944...43,798,307
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LOC130007712
ATAC-STARR-seq lymphoblastoid active region 6218
IAGP
ClinVar Annotator: match by term: Immunodeficiency 67
ClinVar
NCBI chr12:43,758,868...43,758,977
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TIRAP
TIR domain containing adaptor protein
IAGP
ClinVar Annotator: match by term: Invasive pneumococcal disease, protection against
ClinVar
PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868
NCBI chr11:126,283,093...126,294,933
Ensembl chr11:126,282,497...126,298,845
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ACVR2B
activin A receptor type 2B
IAGP
ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY
ClinVar
PMID:28492532
NCBI chr 3:38,453,890...38,493,142
Ensembl chr 3:38,453,890...38,493,142
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EXOG
exo/endonuclease G
IAGP
ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY
ClinVar
PMID:28492532
NCBI chr 3:38,496,340...38,526,303
Ensembl chr 3:38,496,127...38,542,161
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MYD88
MYD88 innate immune signal transduction adaptor
IAGP EXP
ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18669862 PMID:19506249 PMID:20538326 PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:24316379 PMID:24728327 PMID:25741868 PMID:26619011 PMID:28492532 PMID:31301515 More...
NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
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OXSR1
oxidative stress responsive kinase 1
IAGP
ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY
ClinVar
PMID:28492532
NCBI chr 3:38,164,063...38,255,484
Ensembl chr 3:38,165,089...38,255,484
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SCN5A
sodium voltage-gated channel alpha subunit 5
IAGP
ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY
ClinVar
PMID:28492532
NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
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SLC22A13
solute carrier family 22 member 13
IAGP
ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY
ClinVar
PMID:28492532
NCBI chr 3:38,265,812...38,278,757
Ensembl chr 3:38,265,812...38,278,757
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SLC22A14
solute carrier family 22 member 14
IAGP
ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY
ClinVar
PMID:28492532
NCBI chr 3:38,278,832...38,318,575
Ensembl chr 3:38,282,294...38,318,575
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XYLB
xylulokinase
IAGP
ClinVar Annotator: match by term: PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY
ClinVar
PMID:28492532
NCBI chr 3:38,346,785...38,453,041
Ensembl chr 3:38,346,760...38,421,348
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IFNG
interferon gamma
IAGP
ClinVar Annotator: match by term: Immunodeficiency 69
ClinVar OMIM
PMID:24033266 PMID:25741868 PMID:32163377
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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SPPL2A
signal peptide peptidase like 2A
IAGP
ClinVar Annotator: match by term: Immunodeficiency 86
OMIM ClinVar
PMID:23472171 PMID:30127434
NCBI chr15:50,702,266...50,765,706
Ensembl chr15:50,702,266...50,765,948
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TBX21
T-box transcription factor 21
IAGP
ClinVar Annotator: match by term: Immunodeficiency 88
ClinVar OMIM
PMID:25741868
NCBI chr17:47,733,236...47,746,122
Ensembl chr17:47,733,236...47,746,122
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TLR6
toll like receptor 6
susceptibility
IAGP
DNA:SNP:cds:rs3775073(1263A>G)(p.Lys421Lys)(human)
RGD
PMID:25213166
RGD:127229900
NCBI chr 4:38,822,897...38,868,390
Ensembl chr 4:38,822,897...38,856,817
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CXCL10
C-X-C motif chemokine ligand 10
disease_progression
ISO
RGD
PMID:21124994
RGD:5135283
NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
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CXCL11
C-X-C motif chemokine ligand 11
disease_progression
ISO
RGD
PMID:21124994
RGD:5135283
NCBI chr 4:76,033,682...76,036,070
Ensembl chr 4:76,033,682...76,041,415
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CXCL9
C-X-C motif chemokine ligand 9
disease_progression
ISO
RGD
PMID:21124994
RGD:5135283
NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
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APOE
apolipoprotein E
severity
ISO
RGD
PMID:10998083
RGD:11039489
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
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IL6
interleukin 6
treatment
ISO
RGD
PMID:8432613
RGD:11062093
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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TLR9
toll like receptor 9
ISO
RGD
PMID:17785831
RGD:5130866
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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CXCL8
C-X-C motif chemokine ligand 8
ISO
RGD
PMID:11207292
RGD:38549344
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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IL23A
interleukin 23 subunit alpha
severity
ISO
RGD
PMID:16157683
RGD:39457940
NCBI chr12:56,338,884...56,340,410
Ensembl chr12:56,334,174...56,340,410
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IRAK3
interleukin 1 receptor associated kinase 3
severity
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:22729155 PMID:20864681
RGD:35316077 , RGD:36049798
NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
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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 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
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PLAC8
placenta associated 8
severity
ISO
RGD
PMID:17404296
RGD:40924563
NCBI chr 4:83,090,048...83,114,729
Ensembl chr 4:83,090,048...83,137,075
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TREM1
triggering receptor expressed on myeloid cells 1
disease_progression
ISO
RGD
PMID:24396044
RGD:126925976
NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
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ABCB1
ATP binding cassette subfamily B member 1
HEP
mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human)
RGD
PMID:29602771
RGD:41404732
NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
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GPA33
glycoprotein A33
HEP
mRNA, protein:decreased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human)
RGD
PMID:29602771
RGD:41404732
NCBI chr 1:167,052,836...167,090,377
Ensembl chr 1:167,052,836...167,166,479
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IL32
interleukin 32
HEP
mRNA:increased expression:blood (human)
RGD
PMID:25143364
RGD:150340735
NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
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KIT
KIT proto-oncogene, receptor tyrosine kinase
HEP
mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human
RGD
PMID:29602771
RGD:41404732
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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ADA
adenosine deaminase
IEP
protein:increased expression:serum
RGD
PMID:9255891
RGD:5128857
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
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CX3CL1
C-X3-C motif chemokine ligand 1
ISO
RGD
PMID:16113250
RGD:4891897
NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
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CXCL1
C-X-C motif chemokine ligand 1
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11254553
RGD:5135252
NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
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CXCL2
C-X-C motif chemokine ligand 2
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11254553
RGD:5135252
NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
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CXCL5
C-X-C motif chemokine ligand 5
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11254553
RGD:5135252
NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677
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CXCL6
C-X-C motif chemokine ligand 6
ISO
mRNA, protein:increased expression:lung
RGD
PMID:11254553
RGD:5135252
NCBI chr 4:73,836,678...73,838,760
Ensembl chr 4:73,836,640...73,849,064
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CXCR2
C-X-C motif chemokine receptor 2
ISO
RGD
PMID:11254553
RGD:5135252
NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251
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IFNG
interferon gamma
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:11349020
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IL18
interleukin 18
ISO
RGD
PMID:11083766
RGD:4889865
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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MBL2
mannose binding lectin 2
susceptibility
IEP
RGD
PMID:19073229
RGD:12910934
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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NOD1
nucleotide binding oligomerization domain containing 1
ISO
RGD
PMID:20685341
RGD:5131443
NCBI chr 7:30,424,527...30,478,784
Ensembl chr 7:30,424,527...30,478,784
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NOD2
nucleotide binding oligomerization domain containing 2
ISO
RGD
PMID:20685341
RGD:5131443
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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TLR5
toll like receptor 5
susceptibility
IAGP EXP 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 chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292
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TLR9
toll like receptor 9
ISO
RGD
PMID:18426877
RGD:5130707
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
RGD
PMID:18838275
RGD:5131445
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
RGD
PMID:18838275
RGD:5131445
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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C3
complement C3
severity
IEP
protein:decreased expression:serum
RGD
PMID:6342123
RGD:7411735
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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CD163
CD163 molecule
exacerbates
IEP
protein:increased expression:blood serum (human)
RGD
PMID:22851198 PMID:28355218
RGD:39939078 , RGD:127345133
NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
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CFB
complement factor B
severity
IEP
RGD
PMID:6342123
RGD:7411735
NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
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HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
susceptibility
IAGP
DNA:polymorphisms: :HLA-DQA1*03, HLA-DQA1*05 (human)
RGD
PMID:19698125
RGD:5147788
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
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IL27
interleukin 27
ameliorates
IEP
mRNA:decreased expression:skin of body (human)
RGD
PMID:26030183
RGD:126790539
NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
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MBL2
mannose binding lectin 2
susceptibility
IAGP
DNA:SNP:cds:161G>A (human)
RGD
PMID:20650301
RGD:8694069
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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VDR
vitamin D receptor
IEA
GAD
PMID:15118671
RGD:1331525
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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BATF3
basic leucine zipper ATF-like transcription factor 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25642632
NCBI chr 1:212,686,417...212,699,840
Ensembl chr 1:212,686,417...212,699,840
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CCDC122
coiled-coil domain containing 122
IAGP
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr13:43,819,018...43,879,740
Ensembl chr13:43,823,909...43,879,740
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CCDC88B
coiled-coil domain containing 88B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25642632
NCBI chr11:64,340,204...64,357,534
Ensembl chr11:64,340,204...64,357,534
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CD8A
CD8 subunit alpha
exacerbates
HEP
mRNA:increased expression:blood (human)
RGD
PMID:31784594
RGD:124715449
NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
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CXCL8
C-X-C motif chemokine ligand 8
severity
IAGP
DNA:SNP:promoter:g.-353T>A (rs4073) (human)
RGD
PMID:30303246
RGD:40400755
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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CYLD-AS1
CYLD antisense RNA 1
IAGP
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr16:50,727,415...50,742,747
Ensembl chr16:50,727,417...50,742,815
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
susceptibility
IAGP
DNA:polymorphisms (human)
RGD
PMID:20003324 PMID:19698125
RGD:5147585 , RGD:5147788
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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IL10
interleukin 10
IAGP
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL17A
interleukin 17A
severity
IEP
mRNA:decreased expression:epidermis (human)
RGD
PMID:22641009
RGD:8698644
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL19
interleukin 19
IAGP
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:28492532
NCBI chr 1:206,770,773...206,842,981
Ensembl chr 1:206,770,764...206,842,981
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IL23R
interleukin 23 receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22019778
NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
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LACC1
laccase domain containing 1
IAGP
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr13:43,879,178...43,893,932
Ensembl chr13:43,879,284...43,893,932
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LOC100287329
uncharacterized LOC100287329
IAGP
ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to
ClinVar
PMID:15052269 PMID:17353895
NCBI chr 6:31,559,571...31,572,703
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LRRK2
leucine rich repeat kinase 2
IAGP
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
PMID:26467025 PMID:28492532
NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285
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LTA
lymphotoxin alpha
susceptibility
IAGP EXP
ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:15052269 PMID:17353895
NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
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MRC1
mannose receptor C-type 1
IAGP
ClinVar Annotator: match by term: Susceptibility to leprosy and multibacillary leprosy
ClinVar
PMID:20035344
NCBI chr10:17,809,348...17,911,164
Ensembl chr10:17,809,348...17,911,164
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NOD2
nucleotide binding oligomerization domain containing 2
IAGP
DNA:polymorphisms: :multiple (human) ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar RGD
PMID:20350193
RGD:5508743
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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PARL
presenilin associated rhomboid like
IAGP
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 3:183,826,489...183,884,880
Ensembl chr 3:183,829,271...183,884,933
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PINK1
PTEN induced kinase 1
IAGP
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 1:20,633,458...20,651,511
Ensembl chr 1:20,633,458...20,651,511
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PINK1-AS
PINK1 antisense RNA
IAGP
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 1:20,642,657...20,652,193
Ensembl chr 1:20,642,657...20,652,193
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PRKN
parkin RBR E3 ubiquitin protein ligase
IAGP
ClinVar Annotator: match by term: LPRS2
ClinVar
PMID:10072423 PMID:11558785 PMID:11889248 PMID:12114481 PMID:12730996 PMID:12764051 PMID:12891670 PMID:14519684 PMID:15390068 PMID:15970950 PMID:16049031 PMID:16714300 PMID:17766365 PMID:19162522 PMID:19636047 PMID:19801972 PMID:20457763 PMID:20558392 PMID:20798600 PMID:22118943 PMID:22555654 PMID:23531835 PMID:24082139 PMID:24647965 PMID:24831986 PMID:25591737 PMID:25741868 PMID:25815004 PMID:25907632 PMID:25939424 PMID:26188007 PMID:26467025 PMID:26683220 PMID:26764160 PMID:26836416 PMID:26855076 PMID:27182553 PMID:27294386 PMID:28492532 PMID:29353703 PMID:30200940 PMID:30537300 PMID:30609409 PMID:30994895 PMID:31409571 PMID:32970363 PMID:33045815 PMID:33497488 PMID:33845304 PMID:35640906 PMID:35954270 More...
NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
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RAB32
RAB32, member RAS oncogene family
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22019778
NCBI chr 6:146,543,833...146,554,953
Ensembl chr 6:146,543,833...146,554,953
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RIPK2
receptor interacting serine/threonine kinase 2
IAGP
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 8:89,757,816...89,791,064
Ensembl chr 8:89,757,806...89,791,064
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SLC11A1
solute carrier family 11 member 1
susceptibility
IAGP EXP
DNA:repeat:promoter (human) CTD Direct Evidence: marker/mechanism DNA:polymorphisms, haplotype (human)
CTD RGD
PMID:16597321 PMID:15755200 PMID:10608779
RGD:5684957 , RGD:5684972
NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
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TLR1
toll like receptor 1
susceptibility
IAGP EXP
DNA:snp:cds:p.I602S (human) ClinVar Annotator: match by term: LPRS1 ClinVar Annotator: match by term: Leprosy, susceptibility to, 5 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
OMIM ClinVar CTD RGD
PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 PMID:25741868 PMID:26729809 PMID:17548585 More...
RGD:7246917
NCBI chr 4:38,787,569...38,805,644
Ensembl chr 4:38,790,677...38,856,817
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TLR2
toll like receptor 2
susceptibility
IAGP EXP
DNA:polymorphisms:microsatellite,597C>T(human) ClinVar Annotator: match by term: Leprosy, susceptibility to, 3 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:11476982 PMID:12646604 PMID:15726416 PMID:19111445 PMID:25741868 PMID:28492532 PMID:18177245 More...
RGD:8553055
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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TLR6
toll like receptor 6
IAGP
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 4:38,822,897...38,868,390
Ensembl chr 4:38,822,897...38,856,817
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TNF
tumor necrosis factor
susceptibility
IAGP
DNA:SNP:promoter:−308G>A (human)
RGD
PMID:20650301
RGD:8694069
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFSF15
TNF superfamily member 15
IAGP
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1
ClinVar
NCBI chr 9:114,784,635...114,806,039
Ensembl chr 9:114,784,652...114,806,039
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TNFSF8
TNF superfamily member 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25320285
NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595
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ACHE
acetylcholinesterase (Yt blood group)
ISO
RGD
PMID:21921108
RGD:5688128
NCBI chr 7:100,889,994...100,896,994
Ensembl chr 7:100,889,994...100,896,974
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ADA
adenosine deaminase
ISO
RGD
PMID:21320715
RGD:5128858
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
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BCHE
butyrylcholinesterase
ISO
protein:increased expression:serum
RGD
PMID:21921108
RGD:5688128
NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
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F2
coagulation factor II, thrombin
severity
IEP
protein:increased expression:blood plasma (human)
RGD
PMID:18171258 PMID:20002620
RGD:40818429 , RGD:40819859
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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IL1B
interleukin 1 beta
ISO
mRNA, protein:increased expression:kidney (mouse)
RGD
PMID:22323544
RGD:7175257
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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MBL2
mannose binding lectin 2
severity
IEP
protein:increased expression:serum
RGD
PMID:19330263
RGD:6903260
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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TLR2
toll like receptor 2
ISO
RGD
PMID:19635914
RGD:7240557
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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TLR4
toll like receptor 4
ISO
RGD
PMID:19635914 PMID:16428731
RGD:7240557 , RGD:7241090
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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BTK
Bruton tyrosine kinase
ameliorates
ISO
RGD
PMID:23544144
RGD:124713555
NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796
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CD8A
CD8 subunit alpha
disease_progression exacerbates
ISO
protein:increased expression:liver (mouse) protein:decreased expression:spleen, liver (mouse)
RGD
PMID:20348006 PMID:2120126
RGD:124715456 , RGD:124715458
NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
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CEBPB
CCAAT enhancer binding protein beta
severity
ISO
RGD
PMID:17911624
RGD:40903039
NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,830...50,192,668
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CYLD
CYLD lysine 63 deubiquitinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23825949
NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935
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IL15
interleukin 15
ISO
protein:increased expression:epithelial cell, intestine
RGD
PMID:9826341
RGD:1626618
NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
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IL17D
interleukin 17D
severity
ISO
RGD
PMID:31244826
RGD:40903065
NCBI chr13:20,701,513...20,723,098
Ensembl chr13:20,702,127...20,723,098
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IL1RN
interleukin 1 receptor antagonist
susceptibility
IDA
RGD
PMID:8855299
RGD:11522760
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL23A
interleukin 23 subunit alpha
ISO
RGD
PMID:19923464 PMID:22966045
RGD:39457955 , RGD:39457958
NCBI chr12:56,338,884...56,340,410
Ensembl chr12:56,334,174...56,340,410
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IL33
interleukin 33
treatment
ISO
RGD
PMID:25577440
RGD:40400693
NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
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MIR146A
microRNA 146a
ameliorates
ISO
RGD
PMID:29587465 PMID:29728425
RGD:126925140 , RGD:126925176
NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450
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MIR21
microRNA 21
exacerbates
ISO
RGD
PMID:28589100
RGD:41404664
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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MT1X
metallothionein 1X
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19576872
NCBI chr16:56,682,470...56,684,196
Ensembl chr16:56,682,470...56,684,196
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MT2A
metallothionein 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19576872
NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
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PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
ISO
RGD
PMID:26311905
RGD:40890274
NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
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RIPK3
receptor interacting serine/threonine kinase 3
exacerbates
ISO
RGD
PMID:30975711
RGD:127229912
NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
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STING1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:23378430 PMID:21098106
RGD:39128219 , RGD:39128233
NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
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TNF
tumor necrosis factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16751399
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFSF8
TNF superfamily member 8
EXP
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16177108 PMID:21699557
NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595
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CCL20
C-C motif chemokine ligand 20
IEP
protein:increased expression:synovial fluid
RGD
PMID:23371320
RGD:7488895
NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
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CXCR2
C-X-C motif chemokine receptor 2
severity
ISO
RGD
PMID:12847259
RGD:7257681
NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251
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MIR146A
microRNA 146a
exacerbates
ISO
RGD
PMID:24967703
RGD:126925141
NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450
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NOD2
nucleotide binding oligomerization domain containing 2
ISO
RGD
PMID:21387014
RGD:5508754
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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PLAUR
plasminogen activator, urokinase receptor
ISO IEP
mRNA:increased expression:skin
RGD
PMID:19461880 PMID:19461880
RGD:6483813 , RGD:6483813
NCBI chr19:43,646,095...43,670,169
Ensembl chr19:43,646,095...43,670,547
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CCL2
C-C motif chemokine ligand 2
IEP
protein:increased expression:serum (human)
RGD
PMID:16358960
RGD:11528571
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CD40
CD40 molecule
IEP
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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CD40LG
CD40 ligand
IEP
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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CXCL8
C-X-C motif chemokine ligand 8
treatment
IEP
RGD
PMID:24239846
RGD:39939054
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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IL1B
interleukin 1 beta
ISO
RGD
PMID:23134838
RGD:7193053
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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EMILIN2
elastin microfibril interfacer 2
IAGP
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:15994876 PMID:23087183 PMID:28492532
NCBI chr18:2,846,232...2,916,003
Ensembl chr18:2,847,006...2,916,003
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LOC130062090
ATAC-STARR-seq lymphoblastoid active region 13029
IAGP
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr18:2,957,039...2,957,098
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LOC130062091
ATAC-STARR-seq lymphoblastoid active region 13030
IAGP
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr18:2,957,974...2,958,133
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LOC130062092
ATAC-STARR-seq lymphoblastoid active region 13031
IAGP
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr18:2,960,318...2,960,417
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LPIN2
lipin 2
IAGP EXP
ClinVar Annotator: match by term: Majeed syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 PMID:16199547 PMID:17330256 PMID:17576681 PMID:18409191 PMID:19717560 PMID:20032092 PMID:20301735 PMID:20645851 PMID:23087183 PMID:24033266 PMID:25525159 PMID:25741868 PMID:26386126 PMID:27860302 PMID:28492532 PMID:28600779 PMID:29387759 PMID:31598604 PMID:31727123 PMID:33314777 PMID:33670882 More...
NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144
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MYL12A
myosin light chain 12A
IAGP
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr18:3,247,482...3,256,237
Ensembl chr18:3,247,481...3,256,236
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MYL12B
myosin light chain 12B
IAGP
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr18:3,262,133...3,278,461
Ensembl chr18:3,261,479...3,278,461
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MYOM1
myomesin 1
IAGP
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr18:3,066,807...3,247,376
Ensembl chr18:3,066,807...3,219,968
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SMCHD1
structural maintenance of chromosomes flexible hinge domain containing 1
IAGP
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:15994876 PMID:23087183 PMID:28492532
NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017
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TGIF1
TGFB induced factor homeobox 1
IAGP
ClinVar Annotator: match by term: Majeed syndrome
ClinVar
PMID:28492532
NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
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CRP
C-reactive protein
disease_progression
IEP
RGD
PMID:22578647
RGD:9491592
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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RELA
RELA proto-oncogene, NF-kB subunit
IEP
protein:increased expression:mucosa of middle ear,skin of ear canal:
RGD
PMID:24690988
RGD:8552995
NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
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TLR2
toll like receptor 2
IEP
protein:increased expression:mucosa of middle ear,skin of ear canal:
RGD
PMID:24690988
RGD:8552995
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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TLR4
toll like receptor 4
IEP
protein:increased expression:mucosa of middle ear,skin of ear canal:
RGD
PMID:24690988
RGD:8552995
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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IFNA1
interferon alpha 1
IEP
mRNA:increased expression:PBMC
RGD
PMID:28435890
RGD:36174031
NCBI chr 9:21,440,439...21,441,316
Ensembl chr 9:21,440,439...21,441,316
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IRAK3
interleukin 1 receptor associated kinase 3
IEP
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:19114913
RGD:36049801
NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
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PLAUR
plasminogen activator, urokinase receptor
IEP
mRNA, protein:increased expression:blood, granulocyte, monocyte
RGD
PMID:20142364
RGD:6484129
NCBI chr19:43,646,095...43,670,169
Ensembl chr19:43,646,095...43,670,547
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SERPINF1
serpin family F member 1
severity
IEP ISO
protein:increased expression:plasma (human)
RGD
PMID:23992406 PMID:25370187 PMID:23992406
RGD:36174010 , RGD:36174011 , RGD:36174010
NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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TLR5
toll like receptor 5
susceptibility
IEP IAGP EXP
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 chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292
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TREM1
triggering receptor expressed on myeloid cells 1
severity treatment
IEP ISO
RGD
PMID:18008257 PMID:18008257 PMID:18008257
RGD:126928120 , RGD:126928120 , RGD:126928120
NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
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IL4R
interleukin 4 receptor
IEP
protein:decreased expression:serum
RGD
PMID:21251883
RGD:5128510
NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778
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TNF
tumor necrosis factor
ISO
RGD
PMID:10318940
RGD:10449456
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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ACE
angiotensin I converting enzyme
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11956052
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ADD1
adducin 1
IAGP
DNA:missense mutation:cds:p.G460W (human)
RGD
PMID:18679149
RGD:5147999
NCBI chr 4:2,843,844...2,930,062
Ensembl chr 4:2,843,844...2,930,076
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C3
complement C3
severity
IEP
RGD
PMID:3491693
RGD:11041157
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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CFB
complement factor B
severity
IEP
RGD
PMID:3491693
RGD:11041157
NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
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CFD
complement factor D
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16527897
NCBI chr19:859,664...863,641
Ensembl chr19:859,453...867,884
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CFH
complement factor H
treatment exacerbates
IDA EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20694013 PMID:25143339 PMID:19047406
RGD:11041174 , RGD:108019051
NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
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CFHR3
complement factor H related 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20694013
NCBI chr 1:196,774,840...196,795,407
Ensembl chr 1:196,774,813...196,795,407
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CPB2
carboxypeptidase B2
IAGP
RGD
PMID:14717966
RGD:1598478
NCBI chr13:46,053,186...46,105,033
Ensembl chr13:46,053,186...46,105,033
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FCGR2A
Fc gamma receptor IIa
severity
IAGP
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 chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
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IL4
interleukin 4
susceptibility
IAGP
DNA:SNP:promoter:-524C>T(human)
RGD
PMID:20016407
RGD:14696700
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
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C9
complement C9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:9570574
NCBI chr 5:39,284,140...39,364,495
Ensembl chr 5:39,284,140...39,371,324
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CD46
CD46 molecule
IMP
RGD
PMID:12869763
RGD:6483466
NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
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CFP
complement factor properdin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8530058 PMID:10909851
NCBI chr X:47,623,282...47,630,305
Ensembl chr X:47,623,172...47,630,305
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MARCO
macrophage receptor with collagenous structure
ISO
protein:increased expression:sub-cortical, meninges, astrocyte
RGD
PMID:21299846
RGD:41412190
NCBI chr 2:118,942,194...118,994,660
Ensembl chr 2:118,942,194...118,994,660
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MMP13
matrix metallopeptidase 13
ISO
RGD
PMID:10430840
RGD:8547971
NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
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MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:10430840
RGD:8547971
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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NOD2
nucleotide binding oligomerization domain containing 2
susceptibility
IAGP
DNA:SNP,haplotype: :SNP8(human)
RGD
PMID:23691182
RGD:7800668
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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SLC11A1
solute carrier family 11 member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
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TLR2
toll like receptor 2
susceptibility
IAGP
DNA:haplotype: :2477G>A(rs5743708)(human)
RGD
PMID:23691182
RGD:7800668
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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TLR4
toll like receptor 4
susceptibility
IAGP
DNA:SNP,haplotype: :896A>G(rs4986790)(human)
RGD
PMID:23691182
RGD:7800668
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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GGT1
gamma-glutamyltransferase 1
IEP
protein:increased activity:blood:
RGD
PMID:1680936
RGD:14747017
NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,594,811...24,629,005
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
IAGP
DNA:polymorphism (human)
RGD
PMID:20353806
RGD:5147577
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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SLC11A1
solute carrier family 11 member 1
IAGP
DNA:insertion/deletion:3' utr (human)
RGD
PMID:11791966
RGD:5684970
NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
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FOXP3
forkhead box P3
IEP
mRNA:increased expression:peripheral blood:
RGD
PMID:25483347
RGD:38456003
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
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HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
IAGP
DNA:polymorphisms (human)
RGD
PMID:14522182
RGD:5147828
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
IAGP
DNA:polymorphism (human)
RGD
PMID:14522182
RGD:5147828
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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ADIPOQ
adiponectin, C1Q and collagen domain containing
IEP
associated with pulmonary diseases; protein:increased expression:serum
RGD
PMID:19641295
RGD:5686838
NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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CXCL8
C-X-C motif chemokine ligand 8
IEP
protein:increased expression:blood plasma, erythrocyte (human)
RGD
PMID:26300588
RGD:11250849
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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IL17A
interleukin 17A
IDA
RGD
PMID:20797909
RGD:4888520
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL32
interleukin 32
IEP
protein:increased expression:lung, respiratory epithelial cell (human)
RGD
PMID:22033195
RGD:150340752
NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
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TNF
tumor necrosis factor
IEP
associated with HIV Infections
RGD
PMID:7640175
RGD:10450731
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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ACE
angiotensin I converting enzyme
IEP
associated with pulmonary sarcoidosis;protein:increased expression:blood serum (human)
RGD
PMID:15881283
RGD:40818305
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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CD36
CD36 molecule (CD36 blood group)
ISO
RGD
PMID:20950462
RGD:6893545
NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
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DEFB4A
defensin beta 4A
IEP
protein:increased expression:plasma, respiratory system fluid/secretion
RGD
PMID:11296379
RGD:4892261
NCBI chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716 Ensembl chr 8:7,894,677...7,896,716
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
susceptibility
IAGP
associated with pulmonary sarcoidosis
RGD
PMID:15881283
RGD:40818305
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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IFNG
interferon gamma
ISO
associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung
RGD
PMID:19060451
RGD:2311490
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IFNGR1
interferon gamma receptor 1
IAGP
DNA: missense mutations: cds: I87T; V63G DNA: mutation
RGD
PMID:21266457 PMID:15589309
RGD:6480268 , RGD:6480429
NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
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IL22
interleukin 22
IMP
RGD
PMID:19864591
RGD:5147407
NCBI chr12:68,248,242...68,253,604
Ensembl chr12:68,248,242...68,253,604
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IL32
interleukin 32
ameliorates
IMP
human gene in a mouse model
RGD
PMID:25820174
RGD:150340726
NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
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MIR146A
microRNA 146a
ISO
miRNA:altered expression:peritoneum, liver (mouse)
RGD
PMID:27025258
RGD:126925155
NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450
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RIPK3
receptor interacting serine/threonine kinase 3
ameliorates
ISO
RGD
PMID:28401933
RGD:127229921
NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
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SLC11A1
solute carrier family 11 member 1
ISO
DNA:point mutation (mouse)
RGD
PMID:11821237
RGD:5684969
NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
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STAT1
signal transducer and activator of transcription 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11452125
NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
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TNFRSF8
TNF receptor superfamily member 8
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:15316035
NCBI chr 1:12,063,303...12,144,207
Ensembl chr 1:12,063,303...12,144,207
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TNFSF8
TNF superfamily member 8
EXP
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:15316035 PMID:18941223
NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595
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CASP3
caspase 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20179380
NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
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CCR5
C-C motif chemokine receptor 5
IAGP
DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)
RGD
PMID:17445875
RGD:4892129
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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CDH1
cadherin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20179380
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
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MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:17217365
RGD:1642046
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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NOS2
nitric oxide synthase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20179380
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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ADA
adenosine deaminase
IEP
protein:increased expression:serum
RGD
PMID:9255891
RGD:5128857
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
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ATP1B2
ATPase Na+/K+ transporting subunit beta 2
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr17:7,646,627...7,657,770
Ensembl chr17:7,646,627...7,657,770
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CCL4
C-C motif chemokine ligand 4
ISO
RGD
PMID:16988274
RGD:4892091
NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
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CCL5
C-C motif chemokine ligand 5
ISO
protein:increased secretion:lung, secretion (mouse)
RGD
PMID:18717637
RGD:4891914
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CCL8
C-C motif chemokine ligand 8
ISO
RGD
PMID:16988274
RGD:4892091
NCBI chr17:34,319,435...34,321,402
Ensembl chr17:34,319,435...34,321,402
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CCR5
C-C motif chemokine receptor 5
ISO
protein:increased expression:lung, T-helper cell (mouse)
RGD
PMID:16988274
RGD:4892091
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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CLEC5A
C-type lectin domain containing 5A
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr 7:141,927,357...141,946,974
Ensembl chr 7:141,927,357...141,947,007
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COL3A1
collagen type III alpha 1 chain
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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COL6A1
collagen type VI alpha 1 chain
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050
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COL6A2
collagen type VI alpha 2 chain
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
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CRP
C-reactive protein
IEP
RGD
PMID:21426633
RGD:5131292
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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DNASE1L3
deoxyribonuclease 1L3
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697
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FCER2
Fc epsilon receptor II
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr19:7,688,776...7,702,131
Ensembl chr19:7,688,758...7,702,146
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FLT1
fms related receptor tyrosine kinase 1
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
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GALC
galactosylceramidase
IEP 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 chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665
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HDC
histidine decarboxylase
ISO
RGD
PMID:17158962
RGD:5143920
NCBI chr15:50,241,947...50,265,726
Ensembl chr15:50,241,947...50,265,965
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HTRA3
HtrA serine peptidase 3
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr 4:8,269,754...8,307,098
Ensembl chr 4:8,269,754...8,307,098
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IFNG
interferon gamma
ISO
mRNA:increased expression:lung:
RGD
PMID:7935058
RGD:10755754
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IL13
interleukin 13
IEP
protein:increased expression:serum
RGD
PMID:20416219
RGD:4145765
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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IL22RA2
interleukin 22 receptor subunit alpha 2
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr 6:137,143,820...137,173,644
Ensembl chr 6:137,143,820...137,173,648
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INHBA
inhibin subunit beta A
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr 7:41,685,114...41,705,406
Ensembl chr 7:41,667,168...41,705,834
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KLRF1
killer cell lectin like receptor F1
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr12:9,800,052...9,845,005
Ensembl chr12:9,827,481...9,845,007
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MS4A1
membrane spanning 4-domains A1
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752
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PLD4
phospholipase D family member 4
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr14:104,924,879...104,937,785
Ensembl chr14:104,924,713...104,937,761
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SPIB
Spi-B transcription factor
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr19:50,418,938...50,431,314
Ensembl chr19:50,418,938...50,431,314
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TCF7
transcription factor 7
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr 5:134,108,218...134,148,210
Ensembl chr 5:134,114,681...134,151,865
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TCL1A
TCL1 family AKT coactivator A
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr14:95,709,947...95,714,125
Ensembl chr14:95,709,947...95,714,196
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TNF
tumor necrosis factor
IEP
protein:increased expression:serum
RGD
PMID:20416219
RGD:4145765
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF13C
TNF receptor superfamily member 13C
severity
HEP
RGD
PMID:28302172
RGD:32716376
NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
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C8A
complement C8 alpha chain
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:9759902
NCBI chr 1:56,854,797...56,918,223
Ensembl chr 1:56,854,768...56,918,223
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CD40
CD40 molecule
IEP
RGD
PMID:19202131
RGD:5132273
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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CFD
complement factor D
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11457876
NCBI chr19:859,664...863,641
Ensembl chr19:859,453...867,884
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CXCL8
C-X-C motif chemokine ligand 8
treatment
IEP
RGD
PMID:27650493
RGD:39939071
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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NEFL
neurofilament light chain
disease_progression
IEP
protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
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TREM2
triggering receptor expressed on myeloid cells 2
disease_progression
IEP
protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
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CFTR
CF transmembrane conductance regulator
susceptibility
IAGP
DNA:mutations: : DNA:SNP:cds:rs113857788(p.Q1352H)(human)
RGD
PMID:19858235 PMID:23514810 PMID:18703788
RGD:4140395 , RGD:36049751 , RGD:4140430
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
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IFNGR1
interferon gamma receptor 1
susceptibility
IAGP EXP
DNA:nonsense mutation ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:8960473 PMID:9389728 PMID:9536098 PMID:9806040 PMID:10192386 PMID:10480427 PMID:10811850 PMID:11583830 PMID:12516030 PMID:12712974 PMID:12743658 PMID:15589309 PMID:16195661 PMID:16199547 PMID:16690980 PMID:17251453 PMID:17513528 PMID:17576681 PMID:18171304 PMID:18593809 PMID:19488747 PMID:19880337 PMID:20015550 PMID:21266457 PMID:21448974 PMID:24033266 PMID:24199198 PMID:24220318 PMID:25216720 PMID:25741868 PMID:26060819 PMID:26173802 PMID:26343451 PMID:26642243 PMID:27356097 PMID:27868075 PMID:28492532 PMID:28744922 PMID:28902581 PMID:29249112 PMID:29572183 PMID:8960473 More...
RGD:1624283
NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
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IL12B
interleukin 12B
susceptibility
IAGP
disseminated BCG and Salmonella enteritidis infection, OMIM:209950 DNA:deletion:intron,exon:homozygous 4.4kb deletion encompassing exons 4 and 5 and associated introns ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive
ClinVar RGD
PMID:9854038
RGD:1600042
NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
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IL18
interleukin 18
IEP
RGD
PMID:21045270
RGD:4889546
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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IL1R1
interleukin 1 receptor type 1
ISO
RGD
PMID:16797208
RGD:5037237
NCBI chr 2:102,070,390...102,179,874
Ensembl chr 2:102,064,544...102,179,874
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IL20RA
interleukin 20 receptor subunit alpha
IAGP
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chr 6:136,999,971...137,044,965
Ensembl chr 6:136,999,971...137,045,180
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IL22RA2
interleukin 22 receptor subunit alpha 2
IAGP
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chr 6:137,143,820...137,173,644
Ensembl chr 6:137,143,820...137,173,648
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LINC02539
long intergenic non-protein coding RNA 2539
IAGP
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chr 6:137,730,170...137,739,037
Ensembl chr 6:137,730,170...137,792,835
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OLIG3
oligodendrocyte transcription factor 3
IAGP
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chr 6:137,492,199...137,494,394
Ensembl chr 6:137,492,199...137,494,394
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PEX7
peroxisomal biogenesis factor 7
IAGP
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934
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SLC35D3
solute carrier family 35 member D3
IAGP
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chr 6:136,922,301...136,925,660
Ensembl chr 6:136,922,301...136,925,660
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STAT1
signal transducer and activator of transcription 1
susceptibility
IAGP
DNA:transition: ; 2116T>C ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Dominant
ClinVar RGD
PMID:11452125
RGD:1600087
NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
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TNFAIP3
TNF alpha induced protein 3
IAGP
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection
ClinVar
PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183
NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314
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IL10
interleukin 10
IEP
protein:increased expression:aqueous humor
RGD
PMID:22583692
RGD:7364832
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
G
HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
IAGP
associated with Anemia, Sickle Cell;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*050101, HLA-DQB1*0201, HLA-DQB1*0302 (human)
RGD
PMID:18312480
RGD:11041747
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
G
AOC3
amine oxidase copper containing 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr17:42,851,199...42,858,124
Ensembl chr17:42,851,184...42,858,130
G
C1R
complement C1r
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
G
C3
complement C3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
G
F2
coagulation factor II, thrombin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
G
GSN
gelsolin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843
G
TF
transferrin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22633222
NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
G
CP
ceruloplasmin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16755360
NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829
G
CRP
C-reactive protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16755360
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
G
HP
haptoglobin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16755360
NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
G
HP
haptoglobin
ISO
RGD
PMID:21388634
RGD:5144216
NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
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GGT1
gamma-glutamyltransferase 1
IEP
protein:increased activity:blood:
RGD
PMID:1680936
RGD:14747017
NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,594,811...24,629,005
G
CRP
C-reactive protein
IEP
protein:increased expression:plasma (human)
RGD
PMID:21679133
RGD:38508897
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
G
IL4
interleukin 4
treatment
ISO
RGD
PMID:24589604
RGD:10402794
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
G
PTX3
pentraxin 3
IEP
protein:increased expression:plasma (human)
RGD
PMID:21679133
RGD:38508897
NCBI chr 3:157,436,850...157,443,633
Ensembl chr 3:157,436,850...157,443,633
G
CCR5
C-C motif chemokine receptor 5
resistance
ISO
DNA:polymorphism:cds:p.H184R (rat)
RGD
PMID:18703167
RGD:4890425
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
G
CXCL1
C-X-C motif chemokine ligand 1
ISO
RGD
PMID:21356370
RGD:5134954
NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
G
ERAP2
endoplasmic reticulum aminopeptidase 2
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:36261521
NCBI chr 5:96,875,939...96,919,716
Ensembl chr 5:96,875,986...96,919,703
G
FPR1
formyl peptide receptor 1
IAGP
ClinVar Annotator: match by term: N-FORMYLPEPTIDE RECEPTOR POLYMORPHISM
ClinVar
PMID:28492532 PMID:31534221
NCBI chr19:51,745,172...51,751,878
Ensembl chr19:51,745,172...51,804,115
G
IL17A
interleukin 17A
ISO
mRNA,protein:increased expression:lymph node
RGD
PMID:20876291
RGD:4781452
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
G
IL1B
interleukin 1 beta
ISO
RGD
PMID:20565713
RGD:4142820
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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MAVS
mitochondrial antiviral signaling protein
susceptibility
ISO
RGD
PMID:25064677
RGD:40903046
NCBI chr20:3,846,834...3,876,118
Ensembl chr20:3,846,799...3,876,123
G
ADA
adenosine deaminase
IEP IDA
protein:increased activity:pleural fluid: protein:increased activity:serum: protein:increased expression:serum:
RGD
PMID:21860532 PMID:1818842 PMID:1689629 PMID:18357489
RGD:152995280 , RGD:152998934 , RGD:152995292 , RGD:152995288
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
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ADA2
adenosine deaminase 2
treatment
IEP
RGD
PMID:8656037
RGD:152995258
NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
G
CCL22
C-C motif chemokine ligand 22
IEP
RGD
PMID:20337996
RGD:4891473
NCBI chr16:57,357,909...57,366,189
Ensembl chr16:57,358,783...57,366,189
G
CCR2
C-C motif chemokine receptor 2
IDA
RGD
PMID:19159432
RGD:4145106
NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
G
CCR5
C-C motif chemokine receptor 5
IEP
protein:increased expression:pleural fluid, natural killer cell (human)
RGD
PMID:19159432
RGD:4145106
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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FOXP3
forkhead box P3
disease_progression
IEP
associated with human immunodeficiency virus infectious disease;
RGD
PMID:21303360
RGD:36947878
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
G
IL1B
interleukin 1 beta
IAGP
DNA:polymorphism: :3953T>C (human)
RGD
PMID:10377182
RGD:4143226
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
G
IL1RN
interleukin 1 receptor antagonist
IAGP
DNA:repeat (human)
RGD
PMID:10377182
RGD:4143226
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
G
IL27
interleukin 27
exacerbates
IEP
associated with Pleural Effusion;protein:increased expression:pleural fluid (human) protein:increased expression:alveolar system (human)
RGD
PMID:25753767 PMID:31819557 PMID:23962500 PMID:28844060
RGD:126790505 , RGD:126790549 , RGD:126790523 , RGD:126790517
NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
G
IL33
interleukin 33
IEP
protein:increased expression:pleural fluid:
RGD
PMID:23301222
RGD:39939042
NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
G
MMP9
matrix metallopeptidase 9
IEP
protein:increased expression:pleura:
RGD
PMID:18715875
RGD:5129700
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
G
TLR4
toll like receptor 4
IEP
RGD
PMID:18295348
RGD:4144193
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
G
TNC
tenascin C
IEP
protein:increased expression:pleura
RGD
PMID:10950882
RGD:4889594
NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207
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CFH
complement factor H
exacerbates
ISO IDA
RGD
PMID:26802141 PMID:26802141
RGD:108019050 , RGD:108019050
NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
G
IL17A
interleukin 17A
susceptibility
IAGP
associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human)
RGD
PMID:20437253
RGD:4889139
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
G
IL27
interleukin 27
ISO
associated with influenza A;protein:increased expression:lung (mouse)
RGD
PMID:24408967
RGD:11556418
NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
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NFKBIA
NFKB inhibitor alpha
susceptibility
IAGP
DNA:SNPs:enhancers: (rs3138053, rs2233406) (human) DNA:SNP: :(rs1050851) (human)
RGD
PMID:17463416 PMID:29407193
RGD:127285388 , RGD:127285391
NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
G
TIRAP
TIR domain containing adaptor protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17322885
NCBI chr11:126,283,093...126,294,933
Ensembl chr11:126,282,497...126,298,845
G
TLR9
toll like receptor 9
ISO
RGD
PMID:17004992
RGD:5130710
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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ADAM17
ADAM metallopeptidase domain 17
treatment
ISO
RGD
PMID:24491581
RGD:13703038
NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732
G
AQP4
aquaporin 4
treatment
ISO
protein:increased expression:brain:
RGD
PMID:15695511 PMID:15695511
RGD:8698660 , RGD:8698660
NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
G
ATM
ATM serine/threonine kinase
ameliorates
ISO
RGD
PMID:15529270
RGD:126781748
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
G
CAMP
cathelicidin antimicrobial peptide
ISO
protein:increased expression:brain, coronal section (rat)
RGD
PMID:19879657
RGD:2316237
NCBI chr 3:48,223,495...48,225,485
Ensembl chr 3:48,223,347...48,225,491
G
CXCL1
C-X-C motif chemokine ligand 1
ISO
RGD
PMID:21109308
RGD:5134982
NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
G
CYSLTR1
cysteinyl leukotriene receptor 1
disease_progression
ISO
mRNA, protein:increased expression:brain (rat)
RGD
PMID:31933824
RGD:40903068
NCBI chr X:78,271,468...78,327,611
Ensembl chr X:78,271,468...78,327,691
G
CYSLTR2
cysteinyl leukotriene receptor 2
ISO
mRNA, protein:increased expression:brain (rat)
RGD
PMID:31933824
RGD:40903068
NCBI chr13:48,653,929...48,711,226
Ensembl chr13:48,653,711...48,711,226
G
IDO1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:24844751
RGD:39939118
NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
G
IL6
interleukin 6
treatment
ISO
protein:increased expression:brain
RGD
PMID:25443778 PMID:8943431 PMID:11581077
RGD:9831197 , RGD:11062107 , RGD:11060264
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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LGALS3
galectin 3
ISO
mRNA, protein:increased expression:brain
RGD
PMID:17706429
RGD:9685206
NCBI chr14:55,129,252...55,145,430
Ensembl chr14:55,124,110...55,145,423
G
LGALS9
galectin 9
ISO
RGD
PMID:17706429
RGD:9685206
NCBI chr17:27,631,188...27,649,560
Ensembl chr17:27,629,798...27,649,560
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MARCO
macrophage receptor with collagenous structure
ISO
protein:increased expression:meninges, astrocyte
RGD
PMID:21299846
RGD:41412190
NCBI chr 2:118,942,194...118,994,660
Ensembl chr 2:118,942,194...118,994,660
G
MMP2
matrix metallopeptidase 2
treatment
ISO
RGD
PMID:24419461
RGD:8657111
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
G
MMP9
matrix metallopeptidase 9
treatment
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:17371820 PMID:24419461
RGD:1642043 , RGD:8657111
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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NOD2
nucleotide binding oligomerization domain containing 2
ISO
mRNA, protein:increased expression:brain
RGD
PMID:25443778
RGD:9831197
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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NTRK2
neurotrophic receptor tyrosine kinase 2
ISO
mRNA:increased expression:brain
RGD
PMID:21603940
RGD:5684913
NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:brain, nucleus
RGD
PMID:25443778
RGD:9831197
NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
G
SERPING1
serpin family G member 1
treatment
IDA
RGD
PMID:17538891
RGD:8661645
NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171
G
TLR2
toll like receptor 2
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
G
TLR4
toll like receptor 4
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
G
TLR9
toll like receptor 9
ISO
mRNA:increased expression: :
RGD
PMID:12781911
RGD:7794740
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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TNF
tumor necrosis factor
disease_progression
ISO
protein:increased expression:brain mRNA:increased expression:brain (rat)
RGD
PMID:25443778 PMID:31933824
RGD:9831197 , RGD:40903068
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
G
AICDA
activation induced cytidine deaminase
ISO
RGD
PMID:26456931
RGD:11098923
NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242
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ALOX5
arachidonate 5-lipoxygenase
ISO
RGD
PMID:20231413
RGD:4890435
NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119
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BTK
Bruton tyrosine kinase
ameliorates
ISO
RGD
PMID:30646846
RGD:124715470
NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796
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C3
complement C3
disease_progression
ISO IEP
associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion protein:decreased expression:serum
RGD
PMID:17956621 PMID:15972516 PMID:20405
RGD:5129523 , RGD:5129509 , RGD:5130163
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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C5
complement C5
severity
ISO
RGD
PMID:7814608
RGD:5130159
NCBI chr 9:120,952,335...121,074,865
Ensembl chr 9:120,932,987...121,075,195
G
CCL5
C-C motif chemokine ligand 5
susceptibility
ISO
RGD
PMID:16455992
RGD:4892130
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CD14
CD14 molecule
ISO
RGD
PMID:17185649
RGD:4144788
NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700
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CHI3L1
chitinase 3 like 1
IEP
protein:increased secretion:serum (human)
RGD
PMID:10515841
RGD:4892626
NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
G
CRHR1
corticotropin releasing hormone receptor 1
ISO
RGD
PMID:21774994
RGD:5147472
NCBI chr17:45,784,320...45,835,828
Ensembl chr17:45,784,277...45,835,828
G
CRHR2
corticotropin releasing hormone receptor 2
ISO
RGD
PMID:21774994
RGD:5147472
NCBI chr 7:30,651,942...30,700,103
Ensembl chr 7:30,651,942...30,700,129
G
CRP
C-reactive protein
disease_progression
IEP
RGD
PMID:21281676
RGD:5131293
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
G
CXCL1
C-X-C motif chemokine ligand 1
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:20958976
RGD:5134957
NCBI chr 4:73,869,393...73,871,308
Ensembl chr 4:73,869,393...73,871,308
G
CXCL8
C-X-C motif chemokine ligand 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
G
CXCL9
C-X-C motif chemokine ligand 9
ISO
protein:increased expression:lung
RGD
PMID:20381636
RGD:5135285
NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
G
DEFB4A
defensin beta 4A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716 Ensembl chr 8:7,894,677...7,896,716
G
HMOX1
heme oxygenase 1
ISO
associated with influenza;protein:increased expression:lung
RGD
PMID:17348295
RGD:4145366
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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HP
haptoglobin
IEP
RGD
PMID:19396720
RGD:5147385
NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
G
IL15
interleukin 15
ISO
protein:increased expression:alveolar macrophage, bronchial epithelial cell
RGD
PMID:17611121
RGD:5000755
NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
G
IL15RA
interleukin 15 receptor subunit alpha
ISO
RGD
PMID:17611121
RGD:5000755
NCBI chr10:5,948,900...5,978,741
Ensembl chr10:5,943,639...5,978,187
G
IL17A
interleukin 17A
ISO
RGD
PMID:19995896
RGD:4888531
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
G
IL18
interleukin 18
ISO
RGD
PMID:15770015
RGD:4889960
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
G
IL6
interleukin 6
ISO
RGD
PMID:20643849
RGD:4143255
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
G
LEP
leptin
ISO
RGD
PMID:17822444
RGD:5128869
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
G
LEPR
leptin receptor
ISO
RGD
PMID:21148797
RGD:5128846
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
G
MAPK1
mitogen-activated protein kinase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
G
MAPK3
mitogen-activated protein kinase 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
G
MASP2
MBL associated serine protease 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12904520
NCBI chr 1:11,026,523...11,047,239
Ensembl chr 1:11,022,009...11,047,239
G
MBL2
mannose binding lectin 2
no_association
IAGP
DNA:polymorphisms:5' utr, exon:multiple (human) DNA:mutations:5' utr, exon:multiple (human)
RGD
PMID:12047967 PMID:18641104
RGD:4889478 , RGD:4889477
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
G
NOS2
nitric oxide synthase 2
ISO
RGD
PMID:17056580
RGD:4891950
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
G
PTEN
phosphatase and tensin homolog
ameliorates
ISO
myeloid knockout
RGD
PMID:20505137
RGD:127285597
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
G
SFTPD
surfactant protein D
severity
ISO
RGD
PMID:16255775
RGD:4143519
NCBI chr10:79,937,740...79,982,383
Ensembl chr10:79,937,467...79,982,614
G
SIRT1
sirtuin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24894820
NCBI chr10:67,884,656...67,918,390
Ensembl chr10:67,884,656...67,918,390
G
STING1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29263110
RGD:39128230
NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
G
TLR2
toll like receptor 2
ISO
RGD
PMID:19956717
RGD:4145321
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
G
TNF
tumor necrosis factor
ISO
associated with influenza;protein:increased expression:lung
RGD
PMID:9032201 PMID:17348295
RGD:4143479 , RGD:4145366
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
G
TREM1
triggering receptor expressed on myeloid cells 1
ameliorates
ISO
RGD
PMID:24752755 PMID:19596984
RGD:126928121 , RGD:127229903
NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
G
IDO1
indoleamine 2,3-dioxygenase 1
ISO
RGD
PMID:20385761
RGD:39938865
NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
G
CEBPB
CCAAT enhancer binding protein beta
treatment
ISO
mRNA, protein:increased expression:cornea (mouse)
RGD
PMID:23626014
RGD:40903020
NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,830...50,192,668
G
ICAM1
intercellular adhesion molecule 1
ISO
RGD
PMID:9916118
RGD:8547701
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
G
IL10
interleukin 10
treatment
ISO
RGD
PMID:23878501
RGD:7364804
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
G
IL18
interleukin 18
ISO
RGD
PMID:12023376
RGD:8655931
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
G
IL1B
interleukin 1 beta
ISO
RGD
PMID:11895986
RGD:7401195
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
G
IL1RN
interleukin 1 receptor antagonist
treatment
ISO
mRNA:increased expression:cornea (mouse)
RGD
PMID:11895986 PMID:9423885
RGD:7401195 , RGD:8549805
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
G
IL6
interleukin 6
ISO
RGD
PMID:11349084
RGD:7829813
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
G
MMP9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:16384971
RGD:8547891
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
G
TLR2
toll like receptor 2
IEP
mRNA,protein:increased expression:cornea:
RGD
PMID:20012880
RGD:8552969
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
G
TLR4
toll like receptor 4
ISO IEP
mRNA,protein:increased expression:cornea:
RGD
PMID:17065506 PMID:20012880
RGD:7794775 , RGD:8552969
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
G
TSLP
thymic stromal lymphopoietin
severity
ISO
RGD
PMID:30128494
RGD:38596331
NCBI chr 5:111,070,062...111,078,026
Ensembl chr 5:111,070,062...111,078,026
G
ABO
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
susceptibility
IAGP
DNA:polymorphism:cds:allele B (human)
RGD
PMID:22464692
RGD:38455983
NCBI chr 9:133,250,401...133,275,201
Ensembl chr 9:133,233,278...133,276,024
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ANXA2
annexin A2
severity
ISO
RGD
PMID:26371245
RGD:38676497
NCBI chr15:60,347,151...60,397,986
Ensembl chr15:60,347,134...60,402,883
G
CCL17
C-C motif chemokine ligand 17
IEP
associated with Cystic Fibrosis
RGD
PMID:16387607
RGD:4145500
NCBI chr16:57,396,093...57,416,063
Ensembl chr16:57,404,767...57,416,063
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 chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
G
CFTR
CF transmembrane conductance regulator
ISO
RGD
PMID:15039325 PMID:11390493
RGD:36049749 , RGD:36049752
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
G
CRP
C-reactive protein
ISO IDA
protein:increased expression:blood associated with Diabetes Mellitus, Type 1;
RGD
PMID:19561148 PMID:22864910
RGD:5131464 , RGD:6906966
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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CSF2
colony stimulating factor 2
treatment
ISO
associated with Neutropenia;
RGD
PMID:1966550
RGD:10449524
NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
G
CXCL8
C-X-C motif chemokine ligand 8
treatment
ISO
RGD
PMID:27175332
RGD:32733623
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
G
DCTN4
dynactin subunit 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22772370
NCBI chr 5:150,708,440...150,759,017
Ensembl chr 5:150,708,440...150,759,095
G
DEFB1
defensin beta 1
no_association susceptibility
IAGP
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 chr 8:6,870,592...6,877,936
Ensembl chr 8:6,870,592...6,877,936
G
FCGR2A
Fc gamma receptor IIa
IAGP
associated with Cystic Fibrosis; DNA:polymorphism: :p.H131R (human)
RGD
PMID:15367919
RGD:4144121
NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013
G
FGF2
fibroblast growth factor 2
treatment
IDA
human protein in mouse model
RGD
PMID:26617350
RGD:126928152
NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
G
FGF7
fibroblast growth factor 7
treatment
IDA
human protein in rat model
RGD
PMID:11076810
RGD:126928130
NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775
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GSTA4
glutathione S-transferase alpha 4
susceptibility
ISO
RGD
PMID:22038048
RGD:5687774
NCBI chr 6:52,977,953...52,995,284
Ensembl chr 6:52,977,948...52,995,304
G
GSTP1
glutathione S-transferase pi 1
susceptibility
IAGP
associated with Cystic Fibrosis
RGD
PMID:18976645
RGD:4142522
NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
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HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
IAGP
associated with Cystic Fibrosis;DNA:polymorphisms, haplotype:cds:HLA-DQA1*0201 (human)
RGD
PMID:10228112
RGD:5147865
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
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IL13
interleukin 13
IEP
associated with Cystic Fibrosis
RGD
PMID:16387607
RGD:4145500
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
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IL1B
interleukin 1 beta
treatment
IDA
associated with Agranulocytosis
RGD
PMID:7486912 PMID:7923933
RGD:7401204 , RGD:10450534
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
G
IL1RN
interleukin 1 receptor antagonist
IEP
associated with Cystic Fibrosis
RGD
PMID:8327288
RGD:4143202
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL24
interleukin 24
IEP
associated with Cystic Fibrosis
RGD
PMID:19399182
RGD:5147421
NCBI chr 1:206,897,443...206,904,139
Ensembl chr 1:206,897,443...206,904,139
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IL27
interleukin 27
ameliorates
ISO
associated with Sepsis
RGD
PMID:25074706
RGD:126790541
NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
G
IL33
interleukin 33
ISO
mRNA:increased expression:lung:
RGD
PMID:28401938
RGD:40400699
NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
G
IL6
interleukin 6
treatment
ISO
RGD
PMID:27175332
RGD:32733623
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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IRAK3
interleukin 1 receptor associated kinase 3
severity
ISO
associated with Sepsis
RGD
PMID:16917541
RGD:36049803
NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
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KLRK1
killer cell lectin like receptor K1
ISO
RGD
PMID:18832705
RGD:38676496
NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874
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MAPK8
mitogen-activated protein kinase 8
ameliorates
ISO
associated with Pneumonia, Ventilator-Associated
RGD
PMID:27506464
RGD:150340682
NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
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MBL2
mannose binding lectin 2
onset
IEP
associated with Cystic Fibrosis; DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:20068595
RGD:4889579
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
G
PTEN
phosphatase and tensin homolog
exacerbates
ISO
RGD
PMID:29246444
RGD:127285608
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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PTX3
pentraxin 3
susceptibility
IAGP
associated with cystic fibrosis; DNA:SNPs, haplotypes:cds:rs35948036,rs2305619,rs1840680,rs3816527(human)
RGD
PMID:20927127
RGD:35673347
NCBI chr 3:157,436,850...157,443,633
Ensembl chr 3:157,436,850...157,443,633
G
SFTPB
surfactant protein B
ameliorates
IDA
RGD
PMID:20007532
RGD:151667448
NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
G
TLR5
toll like receptor 5
ISO
RGD
PMID:20566829
RGD:5129679
NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292
G
TNF
tumor necrosis factor
treatment
IDA ISO
associated with Agranulocytosis
RGD
PMID:7923933 PMID:27175332 PMID:8168971
RGD:10450534 , RGD:32733623 , RGD:10450561
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
RGD
PMID:20448050
RGD:5131427
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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ABCB1
ATP binding cassette subfamily B member 1
treatment
IAGP
DNA:SNP: :2677G>A (human)
RGD
PMID:26067842
RGD:11098541
NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
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ADA
adenosine deaminase
IEP
protein:increased expression:plasma, respiratory system fluid/secretion protein:increased activity:blood, pulmonary alveolar duct protein:increased activity:sputum:
RGD
PMID:12194640 PMID:2212911 PMID:19460251
RGD:5128854 , RGD:152995390 , RGD:152995271
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
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ADA2
adenosine deaminase 2
IEP
protein:increased activity:sputum:
RGD
PMID:19460251
RGD:152995271
NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
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ADIPOQ
adiponectin, C1Q and collagen domain containing
IEP
protein:increased expression:plasma
RGD
PMID:22022605
RGD:5686405
NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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AKT1
AKT serine/threonine kinase 1
susceptibility
IAGP
DNA:SNP,haplotype:intron: IVS3+18 C/C (human)
RGD
PMID:20141546
RGD:38676498
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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ALOX5
arachidonate 5-lipoxygenase
susceptibility
IAGP
DNA:polymorphism, repeat:promoter, exon:g.760G>A (human)
RGD
PMID:18174194
RGD:4890411
NCBI chr10:45,374,216...45,446,117
Ensembl chr10:45,374,176...45,446,119
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ASAP1
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25774636
NCBI chr 8:130,052,104...130,443,674
Ensembl chr 8:130,052,104...130,443,674
G
ATF3
activating transcription factor 3
IEP
mRNA,protein:increased expression:lung
RGD
PMID:20856677
RGD:34888225
NCBI chr 1:212,565,407...212,620,777
Ensembl chr 1:212,565,334...212,620,777
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C3
complement C3
IEP
RGD
PMID:19472039
RGD:5129500
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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CCL1
C-C motif chemokine ligand 1
susceptibility
ISO IAGP
mRNA:increased expression:lung, dendritic cell DNA:SNP: :multiple (human)
RGD
PMID:18703681 PMID:19057661
RGD:4891409 , RGD:4891408
NCBI chr17:34,360,328...34,363,233
Ensembl chr17:34,360,328...34,363,233
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CCL19
C-C motif chemokine ligand 19
ISO
mRNA:increased expression:lung
RGD
PMID:19933855
RGD:5130906
NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276
G
CCL2
C-C motif chemokine ligand 2
susceptibility
IAGP EXP
DNA:polymorphism: :-2518A>G (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16352737 PMID:18940815 PMID:20111728
RGD:4891439
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CCL5
C-C motif chemokine ligand 5
susceptibility
IAGP IEP
DNA:snps:5' utr:g.-403G>A rs2280788, g.-28C>G rs2107538 (human) mRNA:increased expression:lung (human)
RGD
PMID:19335954 PMID:15128813
RGD:4891879 , RGD:4892112
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CCR2
C-C motif chemokine receptor 2
disease_progression
ISO
RGD
PMID:11438742
RGD:734715
NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
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CCR5
C-C motif chemokine receptor 5
IEP
protein:decreased expression:blood, T cell (human)
RGD
PMID:16379602
RGD:4892094
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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CD14
CD14 molecule
susceptibility
IEP IAGP
protein:increased expression:monocyte, serum DNA:polymorphism:promoter:c. -159C>T (human)
RGD
PMID:18008256 PMID:18008256
RGD:4144205 , RGD:4144205
NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700
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CD163
CD163 molecule
exacerbates
IEP
protein:increased expression:blood plasma, CD14-positive monocyte (human) protein:increased expression:blood serum (human)
RGD
PMID:27685837 PMID:27684274
RGD:127285801 , RGD:127345136
NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
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CD1D
CD1d molecule
susceptibility
IAGP
DNA:SNPS, haplotype:intron, enhancer: (rs859009,rs859010, rs973742) (human)
RGD
PMID:30972222
RGD:127345096
NCBI chr 1:158,178,030...158,186,427
Ensembl chr 1:158,178,030...158,186,427
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CD209
CD209 molecule
susceptibility
EXP IAGP
CTD Direct Evidence: marker/mechanism associated with HIV Seropositivity; DNA:SNP:promoter: -336A>G (rs4804803) (human) DNA:SNPs:promoter:-139G>A, -336A>G, -871A>G (rs2287886,rs4804803,rs735239) (human)
CTD RGD
PMID:16379498 PMID:19126442 PMID:24874302
RGD:39939062 , RGD:39938981
NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564
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CD274
CD274 molecule
IEP
protein:increased expression:Tcell, B cell, monocyte
RGD
PMID:23661793
RGD:40818418
NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
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CD36
CD36 molecule (CD36 blood group)
susceptibility
IAGP
DNA:SNPs: :rs1194182, rs10499859(human)
RGD
PMID:28693442
RGD:41412192
NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
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CD86
CD86 molecule
IEP
protein:decreased expression:sputum, macrophage (human)
RGD
PMID:17713660
RGD:4892339
NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
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CLEC4M
C-type lectin domain family 4 member M
susceptibility
ISO IAGP
DNA:repeats:exon 4: allele 4, allele 5, allele 9 (human)
RGD
PMID:19770268 PMID:24874302 PMID:17224292
RGD:39938983 , RGD:39938981 , RGD:39938987
NCBI chr19:7,763,243...7,769,605
Ensembl chr19:7,763,210...7,769,605
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CRP
C-reactive protein
severity
IEP
associated with HIV Infections
RGD
PMID:21219690 PMID:21197091
RGD:5131284 , RGD:5131287
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
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CXCL10
C-X-C motif chemokine ligand 10
treatment
IEP
RGD
PMID:29843631
RGD:27095956
NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
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CXCL2
C-X-C motif chemokine ligand 2
disease_progression
ISO
RGD
PMID:20454613
RGD:5135037
NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
G
CXCL5
C-X-C motif chemokine ligand 5
susceptibility
ISO
mRNA:increased expression:lung
RGD
PMID:16790804
RGD:5135246
NCBI chr 4:73,995,642...73,998,677
Ensembl chr 4:73,995,642...73,998,677
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CXCL6
C-X-C motif chemokine ligand 6
susceptibility
ISO
mRNA:increased expression:lung
RGD
PMID:16790804
RGD:5135246
NCBI chr 4:73,836,678...73,838,760
Ensembl chr 4:73,836,640...73,849,064
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CXCL8
C-X-C motif chemokine ligand 8
exacerbates
IEP HEP
protein:increased expression:serum (human) RNA:increased expression:blood plasma (human)
RGD
PMID:16001981 PMID:27434276
RGD:39939055 , RGD:150523784
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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CYBA
cytochrome b-245 alpha chain
no_association
IAGP
DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human)
RGD
PMID:16608528
RGD:4780358
NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083
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DDIT3
DNA damage inducible transcript 3
IEP
mRNA,protein:increased expression:lung
RGD
PMID:20856677
RGD:34888225
NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737
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EGFR
epidermal growth factor receptor
disease_progression
IAGP
associated with lung adenocarcinoma;
RGD
PMID:29621876 PMID:22173705
RGD:38599162 , RGD:38599176
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
G
EREG
epiregulin
susceptibility
IAGP
DNA:SNP:exon 4: (rs2367707) (human)
RGD
PMID:30634928
RGD:39457687
NCBI chr 4:74,365,145...74,388,749
Ensembl chr 4:74,365,145...74,388,749
G
FOXP3
forkhead box P3
susceptibility
IAGP
DNA:polymorphism:promoter:-924A>G(human)
RGD
PMID:29020928
RGD:38501101
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
G
GBE1
1,4-alpha-glucan branching enzyme 1
IAGP
DNA:SNP:intron:rs2307058 (human)
RGD
PMID:28355295
RGD:18337291
NCBI chr 3:81,489,703...81,761,645
Ensembl chr 3:81,489,703...81,761,645
G
GSTM1
glutathione S-transferase mu 1
susceptibility
IAGP
associated with GSTT1 null deletion; DNA:deletion: :
RGD
PMID:20297661
RGD:4140932
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
G
GSTT1
glutathione S-transferase theta 1
susceptibility
IAGP
DNA:deletion: :
RGD
PMID:20297661
RGD:4140932
G
HAVCR2
hepatitis A virus cellular receptor 2
IEP
RGD
PMID:21382414
RGD:5135524
NCBI chr 5:157,085,832...157,109,044
Ensembl chr 5:157,085,422...157,142,869
G
HLA-DPB1
major histocompatibility complex, class II, DP beta 1
IAGP
RGD
PMID:18652916
RGD:5144001
NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696
G
HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
disease_progression susceptibility
IAGP
DNA:polymorphisms (human) DNA:polymorphism: :HLA-DQB1*3:03(human) DNA:polymorphism:cds:HLA-DQB1*0201(human)
RGD
PMID:19230186 PMID:28612994 PMID:24024195
RGD:5147614 , RGD:36049765 , RGD:36049753
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
G
HLA-DRB1
major histocompatibility complex, class II, DR beta 1
susceptibility
IAGP
DNA:polymorphism:cds:HLA-DRB1*0201(human) DNA:polymorphism: :HLA-DRB1*09:01(human)
RGD
PMID:24024195 PMID:28612994
RGD:36049753 , RGD:36049765
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
G
IDO1
indoleamine 2,3-dioxygenase 1
treatment
IEP
RGD
PMID:32369456
RGD:39939073
NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
G
IL13
interleukin 13
IEP
mRNA:increased expression:Leukocytes, Mononuclear
RGD
PMID:10608794
RGD:4145649
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
G
IL15
interleukin 15
IEP
mRNA, protein:increased expression:lung
RGD
PMID:11742275
RGD:4990461
NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
G
IL18
interleukin 18
IEP
protein:increased expression:serum
RGD
PMID:15955140
RGD:4889836
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
G
IL1A
interleukin 1 alpha
ISO
RGD
PMID:9176116
RGD:4142835
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
G
IL1B
interleukin 1 beta
severity susceptibility
IEP IAGP
protein:increased expression:lung DNA:polymorphism: :3953T>C (human) protein:increased expression:bronchioalveolar lavage fluid (human)
RGD
PMID:10543265 PMID:16634865 PMID:10631206
RGD:4143180 , RGD:5147843 , RGD:4143179
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
G
IL1RL1
interleukin 1 receptor like 1
ISO
RGD
PMID:28128217
RGD:39938965
NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037
G
IL1RN
interleukin 1 receptor antagonist
severity
IEP IDA
protein:increased expression:lung, serum
RGD
PMID:10543265 PMID:14619382 PMID:10631206
RGD:4143180 , RGD:4143174 , RGD:4143179
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
G
IL23A
interleukin 23 subunit alpha
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:16002675 PMID:21156751 PMID:20624887 PMID:11801672
RGD:39457949 , RGD:39458038 , RGD:39458036 , RGD:39457953
NCBI chr12:56,338,884...56,340,410
Ensembl chr12:56,334,174...56,340,410
G
IL27
interleukin 27
exacerbates
IAGP
DNA:SNPs:promoter, exon:-964A>G, 2905T>G (human) DNA:SNPs:promoter,exons:-964A>G, 2905T>G, 4730T>C (rs153109, rs17855750, rs181206) (human)
RGD
PMID:31949807 PMID:30948177
RGD:126790508 , RGD:39456132
NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
G
IL27RA
interleukin 27 receptor subunit alpha
ISO
RGD
PMID:15749890
RGD:5128486
NCBI chr19:14,031,762...14,053,218
Ensembl chr19:14,031,762...14,053,218
G
IL32
interleukin 32
treatment
IEP
RGD
PMID:31378983
RGD:150340743
NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
G
IL33
interleukin 33
ISO
RGD
PMID:28128217
RGD:39938965
NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
G
IL4
interleukin 4
severity
ISO
RGD
PMID:20832364
RGD:5128550
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
G
IL4R
interleukin 4 receptor
IEP
protein:decreased expression:serum
RGD
PMID:21251883
RGD:5128510
NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778
G
IL6
interleukin 6
IEP
RGD
PMID:20624776
RGD:4143257
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
G
IL6R
interleukin 6 receptor
IEP
protein:decreased expression:T cell
RGD
PMID:20019339
RGD:5128632
NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
G
IRF1
interferon regulatory factor 1
ISO
RGD
PMID:11083808
RGD:5128719
NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719
G
ITIH4
inter-alpha-trypsin inhibitor heavy chain 4
IEP
protein:increased expression:urine
RGD
PMID:29636444
RGD:40903003
NCBI chr 3:52,812,962...52,830,672
Ensembl chr 3:52,812,962...52,830,688
G
JUN
Jun proto-oncogene, AP-1 transcription factor subunit
IDA
protein:decreased phosphorylation:macrophage, nucleus
RGD
PMID:19737230
RGD:4889999
NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048
G
KIR3DS1
killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1
susceptibility
IAGP
DNA:deletion:
RGD
PMID:22653583
RGD:150340566
G
LCN2
lipocalin 2
exacerbates disease_progression
ISO
RGD
PMID:19050270 PMID:30534124
RGD:126779558 , RGD:126779565
NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
G
LTA
lymphotoxin alpha
susceptibility
IAGP
DNA:polymorphism:intron:252G>A (human)
RGD
PMID:20180006
RGD:4143234
NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
G
MARCO
macrophage receptor with collagenous structure
susceptibility
IAGP
DNA:SNP: :rs12998782(human) DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human) DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human)
RGD
PMID:28693442 PMID:23617307 PMID:27853145
RGD:41412192 , RGD:41412195 , RGD:41412194
NCBI chr 2:118,942,194...118,994,660
Ensembl chr 2:118,942,194...118,994,660
G
MBL2
mannose binding lectin 2
IAGP
DNA:polymorphisms:5' utr, exon:multiple (human)
RGD
PMID:19199550
RGD:4889452
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
G
MIF
macrophage migration inhibitory factor
susceptibility
IAGP
DNA:SNP: :rs755622 (human)
RGD
PMID:20439102
RGD:4891004
NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
G
MIR30A
microRNA 30a
disease_progression
IEP
RGD
PMID:25866116
RGD:35668864
NCBI chr 6:71,403,551...71,403,621
Ensembl chr 6:71,403,551...71,403,621
G
MMP3
matrix metallopeptidase 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
G
MMP7
matrix metallopeptidase 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chr11:102,520,508...102,530,747
Ensembl chr11:102,520,508...102,530,750
G
MMP8
matrix metallopeptidase 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24890593
NCBI chr11:102,711,796...102,724,954
Ensembl chr11:102,711,796...102,727,050
G
MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:16982845
RGD:5130746
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
G
NAT2
N-acetyltransferase 2
susceptibility
IAGP
RGD
PMID:20297661
RGD:4140932
NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218
G
NFKBIA
NFKB inhibitor alpha
IEP
mRNA:increased expression:peripheral blood mononuclear cell (human)
RGD
PMID:9379002
RGD:126908014
NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
G
NOD2
nucleotide binding oligomerization domain containing 2
susceptibility
IAGP
DNA:SNPs:CDs:p.P268S, R702W, A725G (human)
RGD
PMID:18419343
RGD:5131510
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
G
NOS2
nitric oxide synthase 2
IAGP
DNA:SNPs:multiple (human)
RGD
PMID:19575238
RGD:4144122
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
G
PDCD1
programmed cell death 1
treatment
IEP
protein:increased expression:Tcell, B cell, monocyte
RGD
PMID:23661793 PMID:23661793
RGD:40818418 , RGD:40818418
NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
G
PDCD1LG2
programmed cell death 1 ligand 2
IEP
protein:increased expression:Tcell, B cell, monocyte
RGD
PMID:23661793
RGD:40818418
NCBI chr 9:5,510,531...5,571,282
Ensembl chr 9:5,510,531...5,571,282
G
PLAUR
plasminogen activator, urokinase receptor
severity
IEP
RGD
PMID:18359089
RGD:6483832
NCBI chr19:43,646,095...43,670,169
Ensembl chr19:43,646,095...43,670,547
G
PTPN22
protein tyrosine phosphatase non-receptor type 22
IAGP
DNA:SNPs:cds:788G>A, 1858C>T (human)
RGD
PMID:19563523
RGD:6484723
NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
G
SFTPA1
surfactant protein A1
susceptibility
IAGP
DNA:SNP:intron:1416C>T (human) DNA:SNPs:exons:307G>A, 776C>T (human)
RGD
PMID:12476938 PMID:16292672
RGD:4144875 , RGD:4144874
NCBI chr10:79,610,939...79,615,455
Ensembl chr10:79,610,939...79,615,455
G
SLC11A1
solute carrier family 11 member 1
susceptibility
IAGP
DNA:polymorphism:intron (human) DNA:deletion:3'UTR:
RGD
PMID:21169917 PMID:24024195
RGD:5684974 , RGD:36049753
NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
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TAP1
transporter 1, ATP binding cassette subfamily B member
IAGP
associated with HIV Infections;
RGD
PMID:21843574
RGD:6482248
NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816
G
TAP2
transporter 2, ATP binding cassette subfamily B member
susceptibility
IAGP
DNA:polymorphism: :
RGD
PMID:9062973
RGD:5147851
NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
G
TLR1
toll like receptor 1
IEP
mRNA:increased expression:blood
RGD
PMID:16493059
RGD:4889525
NCBI chr 4:38,787,569...38,805,644
Ensembl chr 4:38,790,677...38,856,817
G
TLR2
toll like receptor 2
susceptibility
IEP IAGP
mRNA, protein:increased expression:blood, T cell DNA:SNP: :rs1816702 (human) DNA:polymorphism:intron (human) DNA:polymorphisms: :multiple (human)
RGD
PMID:19552525 PMID:19723394 PMID:20298136 PMID:20113509
RGD:4145355 , RGD:4145323 , RGD:4145304 , RGD:4145320
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
G
TLR4
toll like receptor 4
susceptibility severity
IEP IAGP
protein:increased expression:monocyte DNA:SNP:intron: rs5030729 (human) DNA:polymorphisms:cds: p. D299F, T399I (human)
RGD
PMID:18008256 PMID:19575238 PMID:20403143
RGD:4144205 , RGD:4144122 , RGD:4144106
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
G
TLR9
toll like receptor 9
IAGP
DNA:snps:multiple (human)
RGD
PMID:19771452
RGD:5130704
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
G
TNF
tumor necrosis factor
disease_progression susceptibility
IDA ISO IAGP
DNA:polymorphisms::c.-857 C>T, c. -863 A>C (human)
RGD
PMID:18212516 PMID:9176116 PMID:20650298
RGD:4143395 , RGD:4142835 , RGD:4143388
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
G
TREM1
triggering receptor expressed on myeloid cells 1
disease_progression
IEP
RGD
PMID:29844416
RGD:126925977
NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
G
VDR
vitamin D receptor
susceptibility
IAGP
DNA:SNPs:5' UTR (human) DNA:SNP (human) DNA:SNPs:promoter, 3' UTR (human) DNA:SNPs (human)
RGD
PMID:18397302 PMID:20231985 PMID:17236578 PMID:18231846 PMID:15295697
RGD:4889842 , RGD:4889830 , RGD:4889849 , RGD:4889845 , RGD:4889853
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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ADA
adenosine deaminase
IEP
protein:increased expression:serum
RGD
PMID:9255891
RGD:5128857
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
G
DHCR24
24-dehydrocholesterol reductase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195
G
FLOT1
flotillin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr 6:30,727,709...30,742,687
Ensembl chr 6:30,727,709...30,742,732
G
HMGCR
3-hydroxy-3-methylglutaryl-CoA reductase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001
G
LDLR
low density lipoprotein receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820
G
LSS
lanosterol synthase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16469060
NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
G
IL4R
interleukin 4 receptor
IEP IAGP
protein:decreased expression:serum DNA:polymorphism:cds:p.I50V (human)
RGD
PMID:21251883 PMID:19548368
RGD:5128510 , RGD:7207069
NCBI chr16:27,313,756...27,364,778
Ensembl chr16:27,313,668...27,364,778
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GC
GC vitamin D binding protein
IAGP
RGD
PMID:2737695
RGD:5509933
NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041
G
HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
susceptibility
IAGP
DNA:polymorphisms, haplotypes:multiple DNA:polymorphism: :HLA-DQA1*03 (human)
RGD
PMID:17559688 PMID:15789899
RGD:5147792 , RGD:127285392
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
G
HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
IAGP
DNA:polymorphisms, haplotypes:multiple
RGD
PMID:17559688
RGD:5147792
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
G
HLA-DRB1
major histocompatibility complex, class II, DR beta 1
IAGP
DNA:polymorphisms, haplotypes:multiple
RGD
PMID:17559688
RGD:5147792
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
G
ICAM1
intercellular adhesion molecule 1
IEP
protein:increased expression:serum
RGD
PMID:14567831
RGD:13702910
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
G
ACTA2
actin alpha 2, smooth muscle
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339
G
BAX
BCL2 associated X, apoptosis regulator
ISO
mRNA:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
G
CD209
CD209 molecule
IEP
protein:increased expression:left cardiac atrium, dendritic cell (human)
RGD
PMID:30261069
RGD:41410815
NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564
G
CD36
CD36 molecule (CD36 blood group)
IEP
mRNA:decreased expression:blood, mononuclear cell
RGD
PMID:16741676
RGD:6893529
NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
G
COL1A1
collagen type I alpha 1 chain
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
G
COL3A1
collagen type III alpha 1 chain
ISO
mRNA:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
G
FCN3
ficolin 3
IAGP
ClinVar Annotator: match by term: Rheumatic heart disease
ClinVar
NCBI chr 1:27,369,110...27,374,824
Ensembl chr 1:27,369,110...27,374,824
G
GAPDH
glyceraldehyde-3-phosphate dehydrogenase
ISO
RGD
PMID:26823728
RGD:13792679
NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374
G
HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
susceptibility
IAGP
DNA:polymorphisms, haplotypes:multiple DNA:polymorphism, haplotype: :HLA-DQA1*0101, HLA-DQA1*0103, HLA-DQA1*0301 (human)
RGD
PMID:17559688 PMID:29029143
RGD:5147792 , RGD:126925989
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
G
HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
IAGP
DNA:polymorphisms:cds:HLA-DQB1*08 (human)
RGD
PMID:17578051
RGD:5147630
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
G
HLA-DRB1
major histocompatibility complex, class II, DR beta 1
susceptibility
IAGP
DNA:polymorphism (human) DNA:polymorphism:cds:HLA-DRB1*13 (human)
RGD
PMID:17578051 PMID:16426242
RGD:5147630 , RGD:5147643
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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IGF1
insulin like growth factor 1
IEP
RGD
PMID:16406300
RGD:1582623
NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
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IL10
interleukin 10
no_association
IAGP
RGD
PMID:16043936
RGD:1598626
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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INHBA
inhibin subunit beta A
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 7:41,685,114...41,705,406
Ensembl chr 7:41,667,168...41,705,834
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LEF1
lymphoid enhancer binding factor 1
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 4:108,047,548...108,168,932
Ensembl chr 4:108,047,545...108,168,956
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MIR155
microRNA 155
ISO
RGD
PMID:31894293
RGD:151347417
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
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MMP9
matrix metallopeptidase 9
IEP
RGD
PMID:16406300
RGD:1582623
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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SNAI1
snail family transcriptional repressor 1
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr20:49,982,980...49,988,886
Ensembl chr20:49,982,980...49,988,886
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SOCS1
suppressor of cytokine signaling 1
treatment
ISO
RGD
PMID:31894293
RGD:151347417
NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
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TWIST1
twist family bHLH transcription factor 1
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636
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ZEB1
zinc finger E-box binding homeobox 1
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr10:31,318,417...31,529,804
Ensembl chr10:31,318,495...31,529,814
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ZEB2
zinc finger E-box binding homeobox 2
ISO
mRNA, protein:increases expression:mitral valve, heart (rat)
RGD
PMID:33179113
RGD:155882558
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
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GSN
gelsolin
IEP
protein:decreased expression:blood plasma (human)
RGD
PMID:25403731
RGD:329333026
NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843
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ICAM1
intercellular adhesion molecule 1
severity
IEP
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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SELE
selectin E
severity
IEP
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chr 1:169,722,640...169,734,079
Ensembl chr 1:169,722,640...169,764,705
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VCAM1
vascular cell adhesion molecule 1
severity
IEP
protein:increased expression:serum
RGD
PMID:22987107
RGD:13702907
NCBI chr 1:100,719,742...100,739,045
Ensembl chr 1:100,719,742...100,739,045
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HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
susceptibility
IAGP
DNA:haplotype: :
RGD
PMID:17321882
RGD:8547664
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
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HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
IAGP
DNA:haplotype: :
RGD
PMID:17321882
RGD:8547664
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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RAPGEF3
Rap guanine nucleotide exchange factor 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24218580
NCBI chr12:47,734,363...47,758,880
Ensembl chr12:47,734,363...47,771,040
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ADAR
adenosine deaminase RNA specific
ISO
mRNA:splice variant:liver (mouse)
RGD
PMID:12228285
RGD:125097511
NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
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AHR
aryl hydrocarbon receptor
severity
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chr 7:17,298,652...17,346,147
Ensembl chr 7:16,916,359...17,346,152
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AICDA
activation induced cytidine deaminase
severity
ISO
RGD
PMID:29743315
RGD:127285640
NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242
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ANK1
ankyrin 1
ISO
RGD
PMID:23390527
RGD:11041609
NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741
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CXCL8
C-X-C motif chemokine ligand 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29421334
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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HAMP
hepcidin antimicrobial peptide
ISO
RGD
PMID:23390527
RGD:11041609
NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
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IDO1
indoleamine 2,3-dioxygenase 1
susceptibility
ISO
RGD
PMID:24930766
RGD:39939032
NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
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IFNG
interferon gamma
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16002714
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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SLC11A1
solute carrier family 11 member 1
ISO
RGD
PMID:14734525
RGD:5684962
NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
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TLR5
toll like receptor 5
ISO
mRNA, protein:increased expression:jejunum, colon (rat)
RGD
PMID:20529359
RGD:5129497
NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292
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COQ7
coenzyme Q7, hydroxylase
susceptibility
ISO
RGD
PMID:23166727
RGD:10402105
NCBI chr16:19,067,614...19,083,097
Ensembl chr16:19,067,614...19,080,095
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IL12B
interleukin 12B
susceptibility
IAGP
disseminated BCG and Salmonella enteritidis infection, OMIM:209950 DNA:deletion:intron,exon:homozygous 4.4kb deletion encompassing exons 4 and 5 and associated introns
RGD
PMID:9854038
RGD:1600042
NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
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CFTR
CF transmembrane conductance regulator
treatment
ISO IEP
RGD
PMID:19012687 PMID:19012687 PMID:19012687
RGD:11566047 , RGD:11566047 , RGD:11566047
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
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EGF
epidermal growth factor
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
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IDO1
indoleamine 2,3-dioxygenase 1
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
G
IL10
interleukin 10
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
G
IL12B
interleukin 12B
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
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IL1B
interleukin 1 beta
treatment
ISO
RGD
PMID:30615126
RGD:39938959
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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STING1
stimulator of interferon response cGAMP interactor 1
severity
ISO
RGD
PMID:31141689
RGD:39128194
NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
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HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
susceptibility
IAGP
DNA:missense mutation:CDS:c.592C>G (p.Q198E) (human)
RGD
PMID:29795056
RGD:126928140
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
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ACE
angiotensin I converting enzyme
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8186310
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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CD163
CD163 molecule
exacerbates
ISO
RGD
PMID:32199911
RGD:127285678
NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
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CD36
CD36 molecule (CD36 blood group)
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15690042
NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277
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CSF3
colony stimulating factor 3
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:27737899
NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
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CXCL8
C-X-C motif chemokine ligand 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23661603
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
G
IL10
interleukin 10
treatment
ISO
RGD
PMID:23993644
RGD:7364979
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL2
interleukin 2
ISO
RGD
PMID:21603642
RGD:5147906
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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IL4
interleukin 4
susceptibility
IAGP
DNA:SNP:promoter:-542C>T (human)
RGD
PMID:18422436
RGD:7829791
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
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IRAK3
interleukin 1 receptor associated kinase 3
treatment
ISO
RGD
PMID:28954388
RGD:34888230
NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
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LTF
lactotransferrin
IDA
RGD
PMID:10030017
RGD:7243953
NCBI chr 3:46,435,645...46,485,234
Ensembl chr 3:46,435,645...46,485,234
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STAT2
signal transducer and activator of transcription 2
ameliorates
ISO
associated with influenza A
RGD
PMID:30337919
RGD:41789626
NCBI chr12:56,341,597...56,360,107
Ensembl chr12:56,341,597...56,360,203
G
TLR2
toll like receptor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23661603
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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XRN1
5'-3' exoribonuclease 1
susceptibility
IAGP
DNA:snp:intron:c.2339+1477G>A (rs7643377) (human)
RGD
PMID:24847357
RGD:11530009
NCBI chr 3:142,306,610...142,448,037
Ensembl chr 3:142,306,607...142,448,062
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AKT1
AKT serine/threonine kinase 1
treatment
ISO
RGD
PMID:23613163
RGD:38676477
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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CD86
CD86 molecule
ISO
protein:decreased expression:spleen, plasmacytoid dendritic cell (mouse)
RGD
PMID:20949109
RGD:4892562
NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
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CFTR
CF transmembrane conductance regulator
ISO
RGD
PMID:28289144
RGD:36049750
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
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CSF3
colony stimulating factor 3
treatment
IDA
RGD
PMID:10228098
RGD:11039478
NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
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FN1
fibronectin 1
ISO
RGD
PMID:12065530
RGD:7205474
NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
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IFNAR1
interferon alpha and beta receptor subunit 1
susceptibility
ISO
RGD
PMID:19603548 PMID:19603548
RGD:5490273 , RGD:5490273
NCBI chr21:33,324,395...33,359,864
Ensembl chr21:33,324,387...33,359,864
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IL10
interleukin 10
ISO
mRNA, protein:increased expression:lung
RGD
PMID:22940620
RGD:7364825
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL15
interleukin 15
ISO
RGD
PMID:18390740
RGD:4996474
NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
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IL1B
interleukin 1 beta
ISO
RGD
PMID:20065029
RGD:4142828
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL33
interleukin 33
ISO
mRNA:increased expression:lung:
RGD
PMID:28401938
RGD:40400699
NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
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NOD2
nucleotide binding oligomerization domain containing 2
ISO
RGD
PMID:20493961
RGD:5131444
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
protein:increased expression:lung (mouse)
RGD
PMID:28663335
RGD:13432209
NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
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PTPN11
protein tyrosine phosphatase non-receptor type 11
severity
ISO
mRNA:increased expression:lung associated with influenza
RGD
PMID:31782850 PMID:31782850
RGD:39131288 , RGD:39131288
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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RIPK3
receptor interacting serine/threonine kinase 3
treatment
ISO
RGD
PMID:25445964
RGD:127229910
NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
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SFTPB
surfactant protein B
ameliorates
IDA
RGD
PMID:20007532
RGD:151667448
NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
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IL17A
interleukin 17A
ISO
RGD
PMID:24614654
RGD:9068425
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL18
interleukin 18
treatment
ISO
RGD
PMID:21536791
RGD:8655921
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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IL33
interleukin 33
treatment
ISO
mRNA,protein:increased expression:skin
RGD
PMID:23892028 PMID:23892028
RGD:40400893 , RGD:40400893
NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
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RIPK3
receptor interacting serine/threonine kinase 3
ameliorates
ISO
RGD
PMID:27524612
RGD:127229915
NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
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SERPINF1
serpin family F member 1
severity
ISO
RGD
PMID:25515118
RGD:36174009
NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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CD86
CD86 molecule
ISO
associated with Encephalomyelitis, Experimental Autoimmune; protein:increased expression:spleen, dendritic cell (mouse)
RGD
PMID:16861672
RGD:4892553
NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
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IL17A
interleukin 17A
ISO
protein:increased expression:serum (mouse)
RGD
PMID:22384827
RGD:8698662
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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LCN2
lipocalin 2
ISO
mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium
RGD
PMID:16153241
RGD:126781709
NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
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MX1
MX dynamin like GTPase 1
IEP
associated with pharyngitis;protein:increased expression:blood (human)
RGD
PMID:28077283
RGD:126777682
NCBI chr21:41,420,558...41,459,214
Ensembl chr21:41,420,020...41,470,071
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TLR2
toll like receptor 2
severity
ISO
RGD
PMID:19179417
RGD:7240559
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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TNF
tumor necrosis factor
ISO
associated with Otitis Media
RGD
PMID:8302123
RGD:11554174
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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MIR146A
microRNA 146a
ISO
miRNA:decreased expression:brain (rat)
RGD
PMID:26155141
RGD:126925169
NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450
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POLDIP2
DNA polymerase delta interacting protein 2
treatment
ISO
RGD
PMID:32790044
RGD:124713556
NCBI chr17:28,346,633...28,357,527
Ensembl chr17:28,346,633...28,357,527
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ATM
ATM serine/threonine kinase
exacerbates
ISO
RGD
PMID:27421701
RGD:126779562
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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BTK
Bruton tyrosine kinase
ISO
RGD
PMID:30873567
RGD:124715473
NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796
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CLEC4M
C-type lectin domain family 4 member M
severity
ISO
RGD
PMID:16134084
RGD:39938986
NCBI chr19:7,763,243...7,769,605
Ensembl chr19:7,763,210...7,769,605
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IDO1
indoleamine 2,3-dioxygenase 1
ISO
mRNA:increased expression:lung (mouse)
RGD
PMID:20385761
RGD:39938865
NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
G
IFNG
interferon gamma
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
G
IL6
interleukin 6
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
G
IRAK3
interleukin 1 receptor associated kinase 3
severity
ISO
RGD
PMID:22492852
RGD:35316076
NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
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ITGB2
integrin subunit beta 2
susceptibility
ISO
RGD
PMID:11390487
RGD:127345090
NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989
G
LAMP1
lysosomal associated membrane protein 1
ISO
protein:increased expression:lung, natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr13:113,297,239...113,323,672
Ensembl chr13:113,297,239...113,323,672
G
MARCO
macrophage receptor with collagenous structure
exacerbates
ISO
RGD
PMID:15263032
RGD:41412189
NCBI chr 2:118,942,194...118,994,660
Ensembl chr 2:118,942,194...118,994,660
G
NCR1
natural cytotoxicity triggering receptor 1
severity
ISO
RGD
PMID:21887255
RGD:40818252
NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140
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PDCD1
programmed cell death 1
treatment
ISO
RGD
PMID:25624454
RGD:40818422
NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
G
PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
treatment
ISO
associated with immunodeficiency 14
RGD
PMID:30093657
RGD:40890269
NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
G
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
severity
ISO
RGD
PMID:17322108
RGD:38599154
NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
G
RIPK3
receptor interacting serine/threonine kinase 3
exacerbates
ISO
RGD
PMID:33625952
RGD:127229925
NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
G
TNF
tumor necrosis factor
ISO
protein:increased expression:lung,natural killer cell (mouse)
RGD
PMID:21887255
RGD:40818252
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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CCR5
C-C motif chemokine receptor 5
IEP
RGD
PMID:18008231
RGD:8551830
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
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FOXP3
forkhead box P3
treatment
IEP
RGD
PMID:27284313
RGD:38456006
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
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KIR3DS1
killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1
susceptibility
IAGP
DNA:deletion: (human)
RGD
PMID:22958291
RGD:150340581
G
NEFL
neurofilament light chain
IEP
associated with age;protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721
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TREM2
triggering receptor expressed on myeloid cells 2
IEP
associated with age;protein:increased expression:CSF (human)
RGD
PMID:32117023
RGD:127285386
NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
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RAPGEF3
Rap guanine nucleotide exchange factor 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24218580
NCBI chr12:47,734,363...47,758,880
Ensembl chr12:47,734,363...47,771,040
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CD40
CD40 molecule
IEP
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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CD40LG
CD40 ligand
IEP
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:16463218
RGD:11352252
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
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A2M
alpha-2-macroglobulin
treatment
ISO
RGD
PMID:2424486
RGD:10046036
NCBI chr12:9,067,708...9,116,229
Ensembl chr12:9,067,664...9,116,229
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ACE
angiotensin I converting enzyme
severity
IAGP
DNA:SNP, insertion/deletion:promoter, intron: (rs4291, rs4646994)
RGD
PMID:28336767
RGD:39939121
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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ADK
adenosine kinase
ISO
RGD
PMID:8207212
RGD:6482670
NCBI chr10:74,151,221...74,709,290
Ensembl chr10:74,151,202...74,709,963
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ADM
adrenomedullin
ISO
RGD
PMID:17318497 PMID:17766482
RGD:1625310 , RGD:1642599
NCBI chr11:10,305,073...10,307,397
Ensembl chr11:10,305,073...10,307,397
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ADRB2
adrenoceptor beta 2
disease_progression treatment
IAGP IDA
DNA:polymorphism: :rs1042717(human)
RGD
PMID:19850944 PMID:16076286
RGD:8548487 , RGD:8548529
NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623
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AGER
advanced glycosylation end-product specific receptor
ISO
RGD
PMID:21270403
RGD:6767566
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
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AQP1
aquaporin 1 (Colton blood group)
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24028651
NCBI chr 7:30,911,853...30,925,516
Ensembl chr 7:30,911,853...30,925,517
G
C5AR1
complement C5a receptor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18063050
NCBI chr19:47,307,477...47,322,066
Ensembl chr19:47,290,023...47,322,066
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CCKBR
cholecystokinin B receptor
ISO
mRNA:increased expression:myocardium
RGD
PMID:15948246
RGD:2311332
NCBI chr11:6,259,838...6,272,127
Ensembl chr11:6,259,806...6,272,127
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CCL2
C-C motif chemokine ligand 2
disease_progression
IEP
RGD
PMID:28834779
RGD:14995949
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CD274
CD274 molecule
severity
IEP
protein:increased expression:serum protein:increased expression:lymphocyte, mononcyte
RGD
PMID:29702526 PMID:26063974
RGD:40822808 , RGD:41410786
NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
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ELANE
elastase, neutrophil expressed
treatment
ISO
RGD
PMID:18323746
RGD:10450579
NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
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ENO2
enolase 2
ISO
proteiin:increased expression:serum
RGD
PMID:17083782
RGD:2293748
NCBI chr12:6,914,580...6,923,697
Ensembl chr12:6,913,745...6,923,698
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F2
coagulation factor II, thrombin
severity
IEP
protein:decreased expression:blood plasma (human)
RGD
PMID:2788582
RGD:40822807
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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FANCC
FA complementation group C
ISO
RGD
PMID:17404312
RGD:11045879
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
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GC
GC vitamin D binding protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17852808
NCBI chr 4:71,741,693...71,805,520
Ensembl chr 4:71,741,696...71,804,041
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GRK2
G protein-coupled receptor kinase 2
IEP
mRNA:decreased expression:polymorphonuclear leukocyte
RGD
PMID:24465168
RGD:126848796
NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556
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HLA-DRA
major histocompatibility complex, class II, DR alpha
disease_progression
IEP EXP
associated with Burns CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28771573 PMID:17568330 PMID:15644645
RGD:5490160 , RGD:5490203
NCBI chr 6:32,439,887...32,445,046
Ensembl chr 6:32,439,878...32,445,046
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
IEP
mRNA:decreased expression:blood
RGD
PMID:15644645
RGD:5490203
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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HMOX1
heme oxygenase 1
ISO
RGD
PMID:18208666
RGD:4145362
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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HSPA1B
heat shock protein family A (Hsp70) member 1B
susceptibility
IAGP
associated wit community-acquired pneumonia;DNA:SNP: :1267A>G (human)
RGD
PMID:12771604
RGD:5147601
NCBI chr 6:31,827,738...31,830,254
Ensembl chr 6:31,827,738...31,830,254
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IDO1
indoleamine 2,3-dioxygenase 1
severity
IEP
protein:increased activity, increased expression:plasma, heart (human)
RGD
PMID:21765346
RGD:39939075
NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
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IFNG
interferon gamma
IEP
protein:increased expression:plasma
RGD
PMID:25403265
RGD:38455982
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IL10
interleukin 10
severity onset
IDA ISO IEP
protein:increased expression:lung (mouse) protein:increased expression:plasma
RGD
PMID:12117955 PMID:12117955 PMID:28659355 PMID:25403265 PMID:7593621
RGD:1598471 , RGD:1598471 , RGD:40890272 , RGD:38455982 , RGD:11049456
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL19
interleukin 19
IEP
protein:increased expression:serum
RGD
PMID:18246602
RGD:5037232
NCBI chr 1:206,770,773...206,842,981
Ensembl chr 1:206,770,764...206,842,981
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IL1B
interleukin 1 beta
severity
ISO
protein:increased expression:lung (mouse)
RGD
PMID:28659355
RGD:40890272
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL1RN
interleukin 1 receptor antagonist
treatment susceptibility
IMP IAGP
human gene in a mouse model associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:polymorphism::
RGD
PMID:15516267 PMID:23014359
RGD:8551736 , RGD:11522756
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
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IL20RA
interleukin 20 receptor subunit alpha
ISO
mRNA:increased expression:multiple
RGD
PMID:18246602
RGD:5037232
NCBI chr 6:136,999,971...137,044,965
Ensembl chr 6:136,999,971...137,045,180
G
IL20RB
interleukin 20 receptor subunit beta
ISO
mRNA:increased expression:multiple
RGD
PMID:18246602
RGD:5037232
NCBI chr 3:136,957,983...137,011,085
Ensembl chr 3:136,946,230...137,011,085
G
IL27
interleukin 27
ISO
protein, mRNA:increased expression:blood serum, spleen (mouse)
RGD
PMID:20435892
RGD:126790535
NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
G
IL6
interleukin 6
treatment
ISO
RGD
PMID:2124237
RGD:11060276
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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MBL2
mannose binding lectin 2
susceptibility
IAGP
associated with acute pyelonephritis;DNA:SNPs, missense mutations, haplotypes:promoter, cds:multiple
RGD
PMID:17202308
RGD:6903268
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
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MC2R
melanocortin 2 receptor
ISO
protein:increased expression:liver (rat)
RGD
PMID:2822467
RGD:6484558
NCBI chr18:13,882,044...13,915,707
Ensembl chr18:13,882,044...13,915,707
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MIF
macrophage migration inhibitory factor
ISO
RGD
PMID:17381395 PMID:17565848
RGD:4891013 , RGD:1641978
NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
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MIR155
microRNA 155
IEP
RGD
PMID:29979224
RGD:21081538
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
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MIR21
microRNA 21
exacerbates ameliorates
ISO
RGD
PMID:28437377 PMID:31189875
RGD:41404641 , RGD:41404698
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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MIR494
microRNA 494
severity
IEP
RGD
PMID:30783439
RGD:150527846
NCBI chr14:101,029,634...101,029,714
Ensembl chr14:101,029,634...101,029,714
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MT-ND1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
susceptibility
IAGP
associated with Burns; DNA:missense mutation:cds:m.4216T>C (human)
RGD
PMID:19487983
RGD:5148017
NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
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NFKBIA
NFKB inhibitor alpha
treatment
ISO
RGD
PMID:11961112
RGD:126928137
NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
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NOS2
nitric oxide synthase 2
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:8745224 PMID:16601845
RGD:1580268
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
G
NPPC
natriuretic peptide C
IEP
protein:increased expression:plasma
RGD
PMID:8117275
RGD:1642297
NCBI chr 2:231,921,809...231,926,396
Ensembl chr 2:231,921,809...231,926,396
G
OGG1
8-oxoguanine DNA glycosylase
ISO
RGD
PMID:15677345
RGD:8657146
NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
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PARP1
poly(ADP-ribose) polymerase 1
ISO
RGD
PMID:12445868
RGD:10414070
NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
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PDCD1
programmed cell death 1
severity
IEP
protein:increased expression:serum protein:increased expression:lymphocyte, mononcyte
RGD
PMID:29702526 PMID:26063974
RGD:40822808 , RGD:41410786
NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
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PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
severity
ISO
RGD
PMID:28659355
RGD:40890272
NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
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PLAUR
plasminogen activator, urokinase receptor
ISO
RGD
PMID:20693875
RGD:6484122
NCBI chr19:43,646,095...43,670,169
Ensembl chr19:43,646,095...43,670,547
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PROC
protein C, inactivator of coagulation factors Va and VIIIa
treatment
ISO IDA
RGD
PMID:19320827 PMID:21850534
RGD:11100015 , RGD:11100041
NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
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PTX3
pentraxin 3
IEP
protein:increased expression:plasma (human)
RGD
PMID:30687307
RGD:38508896
NCBI chr 3:157,436,850...157,443,633
Ensembl chr 3:157,436,850...157,443,633
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REN
renin
exacerbates
IEP
protein:increased activity:blood plasma (human)
RGD
PMID:31723628
RGD:125097502
NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
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SELL
selectin L
ISO
protein:increased expression:plasma
RGD
PMID:19375498
RGD:5685700
NCBI chr 1:169,690,667...169,711,620
Ensembl chr 1:169,690,665...169,711,702
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SERPINC1
serpin family C member 1
treatment
IDA
RGD
PMID:16732381
RGD:1599323
NCBI chr 1:173,903,800...173,917,327
Ensembl chr 1:173,903,800...173,917,327
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SERPINE1
serpin family E member 1
susceptibility
IAGP
associated with Pneumonia; DNA:polymorphism:promoter:rs1799768 (human)
RGD
PMID:20429897
RGD:4144828
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
G
SERPINF1
serpin family F member 1
severity
IEP
protein:decreased expression:plasma (human)
RGD
PMID:6158114
RGD:36174004
NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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SERPING1
serpin family G member 1
treatment
IDA
RGD
PMID:8172580
RGD:8661646
NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171
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SFTPB
surfactant protein B
IAGP
associated with Pneumonia;DNA:polymorphism: :1580C>T (human)
RGD
PMID:15190959
RGD:4143404
NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
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SOCS1
suppressor of cytokine signaling 1
severity
ISO
RGD
PMID:19469017
RGD:150573701
NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
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TBXA2R
thromboxane A2 receptor
treatment
ISO
RGD
PMID:7816742
RGD:11059599
NCBI chr19:3,594,507...3,606,875
Ensembl chr19:3,594,507...3,606,875
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TFPI
tissue factor pathway inhibitor
treatment
IDA
RGD
PMID:11776329
RGD:11062085
NCBI chr 2:187,464,230...187,554,435
Ensembl chr 2:187,464,230...187,565,760
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THPO
thrombopoietin
IEP
protein:increased expression:serum:
RGD
PMID:20467749
RGD:10449021
NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968
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TNF
tumor necrosis factor
treatment
ISO EXP
protein:increased expression:peritoneal macrophage, cell surface (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20054000 PMID:2213560 PMID:12622907
RGD:10449465 , RGD:1598936
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TREM1
triggering receptor expressed on myeloid cells 1
IEP
mRNA:decreased expression:polymorphonuclear leukocyte
RGD
PMID:24465168
RGD:126848796
NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,926...41,286,682
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ZC3H12A
zinc finger CCCH-type containing 12A
ISO
RGD
PMID:23422584
RGD:39938961
NCBI chr 1:37,474,580...37,484,377
Ensembl chr 1:37,474,580...37,484,377
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CXCL8
C-X-C motif chemokine ligand 8
susceptibility
IAGP
DNA:SNP:promoter:g.-251A>T (rs4073) (human)
RGD
PMID:20015396
RGD:150520200
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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HLA-B
major histocompatibility complex, class I, B
IAGP
DNA:polymorphism:cds:HLA-B*14 (human, Tanzanian)
RGD
PMID:18824733
RGD:7364877
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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IL10
interleukin 10
no_association severity
IEP IAGP
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 chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL17A
interleukin 17A
IEP
mRNA:increased expression:conjunctiva (human)
RGD
PMID:21911461
RGD:9068420
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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TNF
tumor necrosis factor
IAGP
DNA:SNP, haplotypes:promoter:−308G>A (human)
RGD
PMID:17330135
RGD:8548830
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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COL1A1
collagen type I alpha 1 chain
IEP
mRNA:decreased expression:tarsal conjunctiva (human)
RGD
PMID:20375326
RGD:8552676
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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TAP2
transporter 2, ATP binding cassette subfamily B member
susceptibility
IAGP
DNA:polymorphism: :
RGD
PMID:9062973
RGD:5147851
NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
G
VDR
vitamin D receptor
IEA
GAD
PMID:15118671
RGD:1331525
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
G
AGER
advanced glycosylation end-product specific receptor
severity
ISO
RGD
PMID:22698798
RGD:6767307
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
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BTNL2
butyrophilin like 2
susceptibility no_association
IAGP
DNA:SNPs,haplotypes: : rs3763313, rs9268494, rs9268492(human)
RGD
PMID:20176143 PMID:17347014
RGD:9685035 , RGD:9685036
NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181
G
CBS
cystathionine beta-synthase
severity
ISO
protein:increased expression:macrophages (mouse)
RGD
PMID:31992699 PMID:31992699
RGD:40903052 , RGD:40903052
NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943
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CCL1
C-C motif chemokine ligand 1
susceptibility
IAGP
DNA:SNP: :rs159294, rs210837, rs10491110 (human)
RGD
PMID:19057661
RGD:4891408
NCBI chr17:34,360,328...34,363,233
Ensembl chr17:34,360,328...34,363,233
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CCL2
C-C motif chemokine ligand 2
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
CTD ClinVar
PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 PMID:25741868 More...
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
G
CCL4
C-C motif chemokine ligand 4
severity
HEP
associated with human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human)
RGD
PMID:31276515
RGD:41404639
NCBI chr17:36,103,827...36,105,614
Ensembl chr17:36,103,827...36,105,621
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CD209
CD209 molecule
IEP IAGP EXP IMP
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:15564514 PMID:15838506 PMID:16379498 PMID:25741868 PMID:21454357 PMID:18167547 More...
RGD:5131181 , RGD:5131186
NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564
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CD274
CD274 molecule
IEP
mRNA, protein:increased expression:blood, neutrophil
RGD
PMID:21509782
RGD:41412173
NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
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CD86
CD86 molecule
ISO
protein:increased expression:lung (mouse)
RGD
PMID:18292558
RGD:4892329
NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
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CD8A
CD8 subunit alpha
susceptibility
HEP
associated with human immunodeficiency virus infectious disease;mRNA:increased expression:whole blood (human) mRNA:decreased expression:blood (human)
RGD
PMID:27553407 PMID:26725873
RGD:124715445 , RGD:124715450
NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
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CEBPB
CCAAT enhancer binding protein beta
ISO
mRNA:increased expression:lung, spleen (mouse)
RGD
PMID:28558034
RGD:40903038
NCBI chr20:50,190,583...50,192,690
Ensembl chr20:50,190,830...50,192,668
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CIITA
class II major histocompatibility complex transactivator
susceptibility
ISO
knockouts show increased susceptibility to infection by all available criteria including mycobacterial growth, lung damage and survival time (mouse)
RGD
PMID:12828554
RGD:5491205
NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
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CISH
cytokine inducible SH2 containing protein
susceptibility
IAGP EXP
ClinVar Annotator: match by term: Tuberculosis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:20484391
NCBI chr 3:50,606,489...50,611,774
Ensembl chr 3:50,606,489...50,611,774
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CORO1A
coronin 1A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16040207
NCBI chr16:30,183,602...30,189,076
Ensembl chr16:30,182,827...30,189,076
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CXCL8
C-X-C motif chemokine ligand 8
susceptibility
IAGP IEP
DNA:SNP:promoter:-251A>T (human) protein:increased expression:blood plasma, erythrocyte (human)
RGD
PMID:32393145 PMID:26300588
RGD:150520198 , RGD:11250849
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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CXCL9
C-X-C motif chemokine ligand 9
IEP
protein:increased expression:serum
RGD
PMID:19281538
RGD:5135308
NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
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CYP2B6
cytochrome P450 family 2 subfamily B member 6
treatment
IAGP
DNA:SNPs: :c.516G>T (rs3745274) and c.785A>G (rs2279343)(human) associated with human immunodeficiency virus infectious disease; ;DNA:SNP: :516G>T (rs3745274)(human)
RGD
PMID:28389387 PMID:30239753
RGD:41410886 , RGD:41412160
NCBI chr19:40,991,282...41,018,398
Ensembl chr19:40,991,282...41,018,398
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CYP2C19
cytochrome P450 family 2 subfamily C member 19
treatment
IAGP
DNA:polymorphisms:: CYP2C19*17(rs12248560),CYP2C19*2 (c.681C>A; rs4244285)(human)
RGD
PMID:27393733
RGD:124713542
NCBI chr10:94,762,681...94,855,547
Ensembl chr10:94,762,681...94,855,547
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EREG
epiregulin
susceptibility
IAGP
DNA:SNP:intron: (rs7675690) (human)
RGD
PMID:22170233
RGD:39457686
NCBI chr 4:74,365,145...74,388,749
Ensembl chr 4:74,365,145...74,388,749
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HAS1
hyaluronan synthase 1
ISO
RGD
PMID:19876387
RGD:9588638
NCBI chr19:51,713,112...51,723,991
Ensembl chr19:51,713,112...51,723,991
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HLA-A
major histocompatibility complex, class I, A
susceptibility
IAGP
associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-A31
RGD
PMID:19030725
RGD:36049809
NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572
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HLA-B
major histocompatibility complex, class I, B
susceptibility
IAGP
associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-B41
RGD
PMID:19030725
RGD:36049809
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26829749
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
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HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
IAGP
associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-DQB1*05
RGD
PMID:19030725
RGD:36049809
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
susceptibility
IAGP
DNA:polymorphism (human) associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-BRB1*10
RGD
PMID:21251479 PMID:19030725 PMID:17153701
RGD:5147605 , RGD:36049809 , RGD:5147633
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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HP
haptoglobin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16597321
NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
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IFNG
interferon gamma
IAGP EXP
ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:10663562 PMID:11053629 PMID:12788577 PMID:18414898
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IFNGR1
interferon gamma receptor 1
IAGP EXP
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:9389728 PMID:10192386 PMID:11583830 PMID:12516030 PMID:16195661 PMID:16690980 PMID:18171304 PMID:19488747 PMID:20015550 PMID:21266457 PMID:25741868 PMID:28492532 PMID:28902581 PMID:19575238 More...
RGD:4144122
NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449
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IL12RB1
interleukin 12 receptor subunit beta 1
IAGP
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar
PMID:9603733 PMID:12591909 PMID:28492532
NCBI chr19:18,058,995...18,098,816
Ensembl chr19:18,058,995...18,098,944
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IL15
interleukin 15
ISO
mRNA:altered expression:lung, spleen
RGD
PMID:16367949
RGD:4987456
NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
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IL22
interleukin 22
IEP
RGD
PMID:21767990
RGD:5147402
NCBI chr12:68,248,242...68,253,604
Ensembl chr12:68,248,242...68,253,604
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IL27
interleukin 27
exacerbates
IEP HEP
associated with Pleural Effusion;protein:increased expression:pleural effusion (human) mRNA:increased expression:blood (human)
RGD
PMID:25511588 PMID:26282876
RGD:126790514 , RGD:11086047
NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
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IL33
interleukin 33
IEP
associated with Pleural Effusion;protein:increased expression:pleural biopsy
RGD
PMID:25755791
RGD:40400701
NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
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IRAK3
interleukin 1 receptor associated kinase 3
IEP
mRNA, protein:increased expression:sputum (human)
RGD
PMID:19535630
RGD:36049800
NCBI chr12:66,189,214...66,254,622
Ensembl chr12:66,189,195...66,254,622
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IRGM
immunity related GTPase M
IAGP EXP
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 5:150,846,521...150,902,402
Ensembl chr 5:150,846,521...150,900,736
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KIR3DL1
killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1
susceptibility
IAGP
DNA:deletion:cds
RGD
PMID:23073291
RGD:38676470
NCBI chr19:54,816,468...54,830,778
Ensembl chr19:54,816,468...54,830,778
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KIR3DS1
killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1
susceptibility
IAGP
DNA:deletion: (human)
RGD
PMID:22426166 PMID:26542219
RGD:150340565 , RGD:150340584
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KLRK1
killer cell lectin like receptor K1
treatment
ISO IEP
RGD
PMID:16619285 PMID:23922903
RGD:39018558 , RGD:39128143
NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874
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LOC117307477
CD209 promoter region
IAGP
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar
PMID:15564514 PMID:15838506 PMID:16379498
NCBI chr19:7,747,412...7,749,177
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LOC126862536
BRD4-independent group 4 enhancer GRCh37_chr17:32578883-32580082
IAGP
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar
PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 PMID:25741868 More...
NCBI chr17:34,251,864...34,253,063
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LOC129936806
ATAC-STARR-seq lymphoblastoid silent region 14400
IAGP
ClinVar Annotator: match by term: Tuberculosis, susceptibility to
ClinVar
PMID:20484391
NCBI chr 3:50,611,643...50,612,122
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MAPKAPK3
MAPK activated protein kinase 3
IAGP
ClinVar Annotator: match by term: Tuberculosis, susceptibility to
ClinVar
PMID:20484391
NCBI chr 3:50,611,520...50,649,291
Ensembl chr 3:50,611,520...50,649,291
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NFE2L2
NFE2 like bZIP transcription factor 2
treatment
IAGP
DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human)
RGD
PMID:31586142
RGD:42722614
NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
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NRG1
neuregulin 1
susceptibility
IAGP
DNA:SNP, haplotype: (rs16879814)
RGD
PMID:25919455
RGD:39456091
NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666
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PDCD1
programmed cell death 1
treatment
IEP
RGD
PMID:27865385
RGD:41412174
NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
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PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
RGD
PMID:30514491
RGD:38599199
NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
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RIPK3
receptor interacting serine/threonine kinase 3
exacerbates
ISO
RGD
PMID:29892302
RGD:127229926
NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
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SLC11A1
solute carrier family 11 member 1
susceptibility
IEA IAGP EXP
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to infection by DNA:insertion, polymorphism:3' utr:p.D543N (human)
ClinVar CTD OMIM RGD
PMID:16103355 PMID:16597321 PMID:25741868 PMID:15118671 PMID:19863441
RGD:1331525 , RGD:5684931
NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
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SP110
SP110 nuclear body protein
IAGP EXP
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:16803959 PMID:16816019 PMID:17149599 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 2:230,165,186...230,225,636
Ensembl chr 2:230,165,186...230,225,729
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SP140
SP140 nuclear body protein
IAGP
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
ClinVar
PMID:16803959 PMID:16816019 PMID:17149599 PMID:25741868 PMID:28492532
NCBI chr 2:230,186,151...230,316,571
Ensembl chr 2:230,203,110...230,313,215
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SPP1
secreted phosphoprotein 1
IDA
RGD
PMID:15863395
RGD:1581371
NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
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STING1
stimulator of interferon response cGAMP interactor 1
ISO
RGD
PMID:29791904
RGD:39128196
NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
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TIRAP
TIR domain containing adaptor protein
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to
CTD OMIM ClinVar
PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868
NCBI chr11:126,283,093...126,294,933
Ensembl chr11:126,282,497...126,298,845
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TLR1
toll like receptor 1
susceptibility
IAGP
DNA:snps, haplotype:cds:p.N248S, p.S602I (human)
RGD
PMID:18091991
RGD:7246918
NCBI chr 4:38,787,569...38,805,644
Ensembl chr 4:38,790,677...38,856,817
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TLR2
toll like receptor 2
susceptibility
IAGP EXP
ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:14979495 PMID:16081826 PMID:22992740 PMID:25741868 PMID:28492532
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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TLR4
toll like receptor 4
ISO
RGD
PMID:12218133
RGD:4144821
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TLR6
toll like receptor 6
susceptibility
IAGP
DNA:missense mutations:cds:multiple (human)
RGD
PMID:18091991
RGD:7246918
NCBI chr 4:38,822,897...38,868,390
Ensembl chr 4:38,822,897...38,856,817
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TNF
tumor necrosis factor
IEP
protein:increased expression:serum
RGD
PMID:20537163
RGD:4143229
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF1B
TNF receptor superfamily member 1B
IAGP
DNA:snp:3' utr:g.*215C>T rs3397 (human)
RGD
PMID:20007930
RGD:5131209
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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TNFSF8
TNF superfamily member 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30202016
NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595
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VDR
vitamin D receptor
susceptibility
IAGP
associated with HIV Infections;DNA:SNPs:3' UTR (human)
RGD
PMID:18712587
RGD:4889839
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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CD86
CD86 molecule
ISO
protein:increased expression:lung, dendritic cell (mouse)
RGD
PMID:16272336
RGD:4892560
NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139
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CXCL2
C-X-C motif chemokine ligand 2
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:21277990
RGD:5135025
NCBI chr 4:74,097,040...74,099,195
Ensembl chr 4:74,097,040...74,099,196
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IFNG
interferon gamma
ISO
protein:increased expression:serum
RGD
PMID:26853540
RGD:14974256
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IL17A
interleukin 17A
ISO
RGD
PMID:20585449
RGD:4888521
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
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IL23A
interleukin 23 subunit alpha
ISO
RGD
PMID:25296161
RGD:39458039
NCBI chr12:56,338,884...56,340,410
Ensembl chr12:56,334,174...56,340,410
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MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:17202364
RGD:5130727
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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CFTR
CF transmembrane conductance regulator
susceptibility
IAGP
DNA:repeats: :CA repeats(human)
RGD
PMID:16078047
RGD:35673348
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
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HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
IAGP
DNA:polymorphisms::
RGD
PMID:11120931
RGD:36049756
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
susceptibility
EXP IAGP
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 chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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LTA
lymphotoxin alpha
susceptibility
IAGP
DNA:SNP::
RGD
PMID:11120931
RGD:36049756
NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
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TLR2
toll like receptor 2
ISO
RGD
PMID:25667264
RGD:11061268
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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TNF
tumor necrosis factor
susceptibility
IAGP
DNA:SNP:promoter:-308G>A (rs1800629) (human)
RGD
PMID:11120931
RGD:36049756
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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CD1D
CD1d molecule
IEP
protein:increased expression:B cell (human)
RGD
PMID:22347409
RGD:127345101
NCBI chr 1:158,178,030...158,186,427
Ensembl chr 1:158,178,030...158,186,427
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CTLA4
cytotoxic T-lymphocyte associated protein 4
susceptibility
IAGP
DNA:SNPs:multiple:Gabonese(human)
RGD
PMID:22288822
RGD:7204674
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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IL5
interleukin 5
resistance
IEP
RGD
PMID:9697734
RGD:7241010
NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838
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STAT6
signal transducer and activator of transcription 6
severity
IAGP
DNA:SNP:enhancer: (rs324013)
RGD
PMID:18273035
RGD:7243977
NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139
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CXCL8
C-X-C motif chemokine ligand 8
treatment
IMP
human recombinant protein in a mouse model
RGD
PMID:28011398
RGD:150520199
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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CXCR1
C-X-C motif chemokine receptor 1
IAGP
RGD
PMID:21151974
RGD:7207862
NCBI chr 2:218,162,841...218,166,962
Ensembl chr 2:218,162,841...218,166,962
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CXCR2
C-X-C motif chemokine receptor 2
ISO
RGD
PMID:18401338
RGD:7257688
NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251
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HSPA1B
heat shock protein family A (Hsp70) member 1B
IAGP
DNA: SNP: :g.1267A>G
RGD
PMID:20379347
RGD:7242733
NCBI chr 6:31,827,738...31,830,254
Ensembl chr 6:31,827,738...31,830,254
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IL18
interleukin 18
ISO
protein:increased expression:urine
RGD
PMID:19171043
RGD:2311084
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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IL1A
interleukin 1 alpha
ISO
protein:increased expression:urine
RGD
PMID:19171043 PMID:21690238
RGD:2311084 , RGD:6907113
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
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IL1B
interleukin 1 beta
ISO
protein:increased expression:urine
RGD
PMID:19171043 PMID:20886104
RGD:2311084 , RGD:7175340
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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LCN2
lipocalin 2
disease_progression ameliorates treatment
ISO IDA IEP
protein:increased expression:urine:
RGD
PMID:25398327 PMID:24937428 PMID:24937428 PMID:24937428
RGD:126779559 , RGD:126779579 , RGD:126779579 , RGD:126779579
NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453
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NOS2
nitric oxide synthase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:9011564
NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
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POMC
proopiomelanocortin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:6254450
NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
G
TLR2
toll like receptor 2
susceptibility
IAGP
DNA:polymorphism: :p.R753Q (human)
RGD
PMID:18001294
RGD:7240561
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
G
TLR4
toll like receptor 4
susceptibility
IAGP
DNA:snp:cds:p.D299G (human)
RGD
PMID:19543401
RGD:7246906
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
G
CD163
CD163 molecule
IEP
protein:increased expression:duodenum, macrophage (human)
RGD
PMID:19664628
RGD:149735573
NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all