RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Infectious Skin Diseases
Accession: DOID:9000859
browse the term
Definition: Skin diseases caused by bacteria, fungi, parasites, or viruses.
Synonyms: exact_synonym: Infectious Skin Disease
primary_id: MESH:D012874
alt_id: RDO:0005153
G
CCL17
C-C motif chemokine ligand 17
IEP
associated with Cystic Fibrosis
RGD
PMID:17898016
RGD:4145612
NCBI chr16:57,396,093...57,416,063
Ensembl chr16:57,404,767...57,416,063
G
CCR1
C-C motif chemokine receptor 1
ISO
RGD
PMID:15951834
RGD:5688155
NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
G
CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:10946288
RGD:8661731
NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
G
CFTR
CF transmembrane conductance regulator
IAGP
DNA:mutations: :
RGD
PMID:11243954
RGD:4140482
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
G
HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
IAGP
associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human)
RGD
PMID:23278646
RGD:36049760
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 cystic fibrosis; DNA:polymorphisms: :
RGD
PMID:23278646
RGD:36049760
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
G
ICAM1
intercellular adhesion molecule 1
ISO
RGD
PMID:7743671
RGD:8547590
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
G
IL1A
interleukin 1 alpha
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
G
MBL2
mannose binding lectin 2
susceptibility
IAGP
Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human) DNA:SNP:intron:1011G>A(human)
RGD
PMID:11474427 PMID:16487239
RGD:4889577 , RGD:8693711
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
G
TLR9
toll like receptor 9
susceptibility
ISO IAGP
DNA:SNP:promoter:g.-1237T>C (rs5743836) (human)
RGD
PMID:18936185 PMID:18275280
RGD:5130858 , RGD:5130863
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
G
TNF
tumor necrosis factor
ISO
RGD
PMID:8699818
RGD:7794730
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
G
TNFRSF1A
TNF receptor superfamily member 1A
susceptibility
IAGP
DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human)
RGD
PMID:20646338
RGD:5131174
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
AGER
advanced glycosylation end-product specific receptor
IAGP
DNA:SNP:promoter:-374T>A (human)
RGD
PMID:22114731
RGD:8695981
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
G
CCL19
C-C motif chemokine ligand 19
ISO
associated with Neutropenia;mRNA:increased expression:lung
RGD
PMID:19783686
RGD:5130908
NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276
G
CCR7
C-C motif chemokine receptor 7
ISO
associated with Neutropenia
RGD
PMID:19783686
RGD:5130908
NCBI chr17:40,553,769...40,565,472
Ensembl chr17:40,551,081...40,565,472
G
CD209
CD209 molecule
IMP
RGD
PMID:21381282
RGD:5131183
NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564
G
CFTR
CF transmembrane conductance regulator
severity
ISO
RGD
PMID:22135344
RGD:35673332
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
G
CLEC1A
C-type lectin domain family 1 member A
susceptibility
IAGP EXP
ClinVar Annotator: match by term: Aspergillosis, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:29489751
NCBI chr12:10,069,554...10,098,985
Ensembl chr12:10,069,554...10,111,627
G
CLEC7A
C-type lectin domain containing 7A
IAGP EXP
ClinVar Annotator: match by term: Aspergillosis, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868
NCBI chr12:10,116,777...10,130,304
Ensembl chr12:10,116,777...10,130,258
G
CRP
C-reactive protein
treatment
IEP
RGD
PMID:20879853
RGD:9495929
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
G
IL15
interleukin 15
IAGP
DNA:polymorphism (human)
RGD
PMID:16893395
RGD:4981337
NCBI chr 4:141,636,583...141,733,987
Ensembl chr 4:141,636,583...141,733,987
G
MBL1P
mannose binding lectin 1, pseudogene
susceptibility
ISO
RGD
PMID:20064561
RGD:8694071
NCBI chr10:79,920,178...79,923,119
Ensembl chr10:79,920,327...79,923,032 Ensembl chr10:79,920,327...79,923,032
G
MBL2
mannose binding lectin 2
susceptibility
ISO
RGD
PMID:20064561
RGD:8694071
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
G
S100B
S100 calcium binding protein B
IAGP
DNA:SNP: :427C>T (human)
RGD
PMID:22114731
RGD:8695981
NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208
G
TLR1
toll like receptor 1
susceptibility
IAGP
DNA:SNPs: :p.R80T, p.N248S (human)
RGD
PMID:16461792
RGD:4889535
NCBI chr 4:38,787,569...38,805,644
Ensembl chr 4:38,787,555...38,856,817
G
TLR2
toll like receptor 2
ISO
mRNA:increased expression:lung
RGD
PMID:19781388
RGD:4145322
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
G
TLR6
toll like receptor 6
susceptibility
IAGP
DNA:SNP: :p.S249P (human)
RGD
PMID:16461792
RGD:4889535
NCBI chr 4:38,822,897...38,868,390
Ensembl chr 4:38,822,897...38,856,817
G
RELA
RELA proto-oncogene, NF-kB subunit
IAGP
ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic | ClinVar Annotator: match by term: RELA-related condition
ClinVar OMIM
PMID:25741868 PMID:28492532 PMID:28600438 PMID:29758562 PMID:32969189 PMID:35412596 PMID:36926348 More...
NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
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
G
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
G
CLEC7A
C-type lectin domain containing 7A
IAGP EXP
ClinVar Annotator: match by term: Familial chronic mucocutaneous candidiasis CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr12:10,116,777...10,130,304
Ensembl chr12:10,116,777...10,130,258
G
IL17F
interleukin 17F
IAGP
ClinVar Annotator: match by term: Candidiasis, familial, 6
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29458167 PMID:30290665 PMID:32047491 PMID:32185379 PMID:34587561 PMID:35753512 PMID:35874679 More...
NCBI chr 6:52,236,681...52,245,689
Ensembl chr 6:52,236,681...52,245,689
G
LOC114803478
TRAF3IP2 eExon liver enhancer
IAGP
ClinVar Annotator: match by term: Candidiasis, familial, 8
ClinVar
PMID:22513239 PMID:24033266 PMID:24120361 PMID:25741868 PMID:28492532
NCBI chr 6:111,591,197...111,591,892
G
TRAF3IP2
TRAF3 interacting protein 2
IAGP
ClinVar Annotator: match by term: Candidiasis, familial, 8
ClinVar OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20953186 PMID:20953188 PMID:22513239 PMID:22581863 PMID:24033266 PMID:24120361 PMID:25741868 PMID:28492532 More...
NCBI chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906
G
TRAF3IP2-AS1
TRAF3IP2 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Candidiasis, familial, 8
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20953186 PMID:20953188 PMID:22513239 PMID:22581863 PMID:24033266 PMID:24120361 PMID:25741868 PMID:28492532 More...
NCBI chr 6:111,483,472...111,602,295
Ensembl chr 6:111,483,389...111,598,784
G
BRK1
BRICK1 subunit of SCAR/WAVE actin nucleating complex
IAGP
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:10,115,675...10,127,190
Ensembl chr 3:10,115,675...10,127,190
G
CIDEC
cell death inducing DFFA like effector c
IAGP
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255
G
CRELD1
cysteine rich with EGF like domains 1
IAGP
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413
G
EMC3
ER membrane protein complex subunit 3
IAGP
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:9,962,682...10,011,118
Ensembl chr 3:9,962,682...10,011,202
G
FANCD2
FA complementation group D2
IAGP
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
G
FANCD2OS
FANCD2 opposite strand
IAGP
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:10,081,320...10,108,457
Ensembl chr 3:10,081,317...10,108,255
G
IL17RC
interleukin 17 receptor C
IAGP
ClinVar Annotator: match by term: Candidiasis, familial, 9 | ClinVar Annotator: match by term: IL17RC-related condition
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25918342 PMID:28492532 More...
NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630
G
IL17RE
interleukin 17 receptor E
IAGP
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:9,902,093...9,916,402
Ensembl chr 3:9,902,612...9,916,402
G
JAGN1
jagunal homolog 1
IAGP
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:9,890,610...9,894,349
Ensembl chr 3:9,890,574...9,894,349
G
LOC129936143
ATAC-STARR-seq lymphoblastoid silent region 14050
IAGP
ClinVar Annotator: match by term: IL17RC-related condition ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532
NCBI chr 3:9,932,806...9,932,865
G
LOC129936144
ATAC-STARR-seq lymphoblastoid silent region 14051
IAGP
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:9,933,446...9,933,775
G
PRRT3
proline rich transmembrane protein 3
IAGP
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:9,945,542...9,952,408
Ensembl chr 3:9,939,450...9,952,408
G
VHL
von Hippel-Lindau tumor suppressor
IAGP
ClinVar Annotator: match by term: Candidiasis, familial, 9
ClinVar
PMID:28492532
NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676
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
IFNG
interferon gamma
treatment
ISO
RGD
PMID:29481557
RGD:14975102
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
G
CLEC7A
C-type lectin domain containing 7A
IAGP
ClinVar Annotator: match by term: Candidiasis familial chronic mucocutaneous, autosomal recessive
ClinVar
PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868
NCBI chr12:10,116,777...10,130,304
Ensembl chr12:10,116,777...10,130,258
G
IL17RA
interleukin 17 receptor A
IAGP
ClinVar Annotator: match by term: Familial Candidiasis, Recessive ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis
ClinVar
PMID:16670328 PMID:18802100 PMID:21178015 PMID:21350122 PMID:24033266 PMID:25741868 PMID:27930337 PMID:28492532 More...
NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693
G
LOC129391259
MPRA-validated peak4440 silencer
IAGP
ClinVar Annotator: match by term: Familial Candidiasis, Recessive
ClinVar
PMID:25741868 PMID:28492532
NCBI chr22:17,105,810...17,106,010
G
LOC130066893
ATAC-STARR-seq lymphoblastoid silent region 13429
IAGP
ClinVar Annotator: match by term: Familial Candidiasis, Recessive
ClinVar
PMID:25741868
NCBI chr22:17,084,783...17,085,002
G
LOC130066894
ATAC-STARR-seq lymphoblastoid silent region 13430
IAGP
ClinVar Annotator: match by term: Familial Candidiasis, Recessive
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr22:17,085,023...17,085,142
G
MAPK8
mitogen-activated protein kinase 8
IAGP
associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human)
RGD
PMID:31784499
RGD:150340677
NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
G
STAT1
signal transducer and activator of transcription 1
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis
CTD ClinVar
PMID:21714643 PMID:21727188 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24343863 PMID:25741868 PMID:26255980 PMID:26494717 PMID:26604104 PMID:28161409 PMID:28427548 PMID:28492532 PMID:28815025 More...
NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
G
CAT
catalase
IEP
protein:decreased activity:erythrocyte:
RGD
PMID:9892499
RGD:9479188
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
G
CCL2
C-C motif chemokine ligand 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
G
CCR1
C-C motif chemokine receptor 1
ISO
RGD
PMID:12874303
RGD:5688168
NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
G
CCR2
C-C motif chemokine receptor 2
ISO
mRNA:increased expression:foot, lymph node
RGD
PMID:12874303
RGD:5688168
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
no_association
IAGP
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
RGD
PMID:23632983 PMID:17214851
RGD:8549764 , RGD:8549765
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
G
CD163
CD163 molecule
IEP
mRNA, protein:increased expression:skin of body, blood plasma, CD14-positive monocyte (human)
RGD
PMID:32023254
RGD:127345130
NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
G
CD274
CD274 molecule
ISO
RGD
PMID:16358363
RGD:41410801
NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
G
COL1A1
collagen type I alpha 1 chain
IAGP
DNA:SNPs: :rs1061237, rs2586488 (human)
RGD
PMID:25562121
RGD:11041176
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
G
CXCL8
C-X-C motif chemokine ligand 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
G
FOXP3
forkhead box P3
IEP
mRNA:increased expression:Peripheral blood mononuclear cell:
RGD
PMID:29205403
RGD:38455981
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
G
IFNG
interferon gamma
treatment
EXP ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD RGD
PMID:8154019 PMID:9234779 PMID:20102417 PMID:27999013
RGD:40890273
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
G
IL10
interleukin 10
EXP IEP
CTD Direct Evidence: marker/mechanism mRNA:increased expression:Peripheral blood mononuclear cell:
CTD RGD
PMID:20102417 PMID:29205403
RGD:38455981
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
G
IL13
interleukin 13
treatment
ISO
RGD
PMID:12739821 PMID:18924210
RGD:8549536 , RGD:8549561
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
G
IL17A
interleukin 17A
IEP
mRNA:increased expression:Peripheral blood mononuclear cell:
RGD
PMID:29205403
RGD:38455981
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
G
IL1B
interleukin 1 beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
G
IL23A
interleukin 23 subunit alpha
ISO
RGD
PMID:29078003
RGD:39457938
NCBI chr12:56,338,884...56,340,410
Ensembl chr12:56,334,174...56,340,410
G
IL32
interleukin 32
susceptibility ameliorates
IAGP IMP
DNA:SNPs:enhancers: (rs4786370, rs4349147) (human)
RGD
PMID:32023240 PMID:28709468
RGD:150340717 , RGD:150340742
NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
G
IL4
interleukin 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20102417
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
G
KLRK1
killer cell lectin like receptor K1
treatment
ISO
associated with lymphocytic choriomeningitis
RGD
PMID:26290604
RGD:39128165
NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874
G
LTA
lymphotoxin alpha
no_association
IAGP
DNA:SNP:intron:252A>G (human)
RGD
PMID:16950634
RGD:8548800
NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
G
LTB
lymphotoxin beta
ISO
RGD
PMID:17911622
RGD:8548820
NCBI chr 6:31,580,558...31,582,425
Ensembl chr 6:31,580,525...31,582,522
G
MMP2
matrix metallopeptidase 2
treatment
IEP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21091666 PMID:21091666
RGD:8657030
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
G
PDCD1LG2
programmed cell death 1 ligand 2
ISO
RGD
PMID:16358363
RGD:41410801
NCBI chr 9:5,510,531...5,571,282
Ensembl chr 9:5,510,531...5,571,282
G
PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
treatment
ISO
RGD
PMID:27999013
RGD:40890273
NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
G
SLC11A1
solute carrier family 11 member 1
IAGP
DNA:insertion/deletion (human)
RGD
PMID:20089160
RGD:5684930
NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
G
SOD1
superoxide dismutase 1
IEP
protein:increased activity:erythrocyte:
RGD
PMID:9892499
RGD:9479188
NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
G
STAT4
signal transducer and activator of transcription 4
ISO
RGD
PMID:10458767
RGD:8661703
NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
G
TLR2
toll like receptor 2
IEP
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
G
TLR4
toll like receptor 4
IEP
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
G
TLR9
toll like receptor 9
IEP
protein:decreased expression:skin:
RGD
PMID:20493664
RGD:7794748
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
G
TNF
tumor necrosis factor
no_association
IAGP EXP
DNA:SNP:promoter:-308G>A (rs1800629) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20102417 PMID:16950634
RGD:8548800
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
G
IDO1
indoleamine 2,3-dioxygenase 1
severity
IEP
associated with atopic dermatitis; protein:increased activity:serum (human)
RGD
PMID:26198597
RGD:11528429
NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
G
IFNG
interferon gamma
susceptibility
IEP IAGP
mRNA,protein:decreased expression:peripheral mononuclear cell: DNA:haplotype::
RGD
PMID:21458658 PMID:21458658
RGD:6480259 , RGD:6480259
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
G
LOC130061783
ATAC-STARR-seq lymphoblastoid active region 12855
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:28492532
NCBI chr17:78,121,180...78,121,239
G
LOC130061785
ATAC-STARR-seq lymphoblastoid active region 12857
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:78,122,490...78,122,639
G
LOC130061786
ATAC-STARR-seq lymphoblastoid silent region 9039
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:78,124,789...78,125,038
G
LOC130061792
ATAC-STARR-seq lymphoblastoid silent region 9043
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 PMID:28492532 More...
NCBI chr17:78,131,459...78,131,978
G
LOC130061793
ATAC-STARR-seq lymphoblastoid silent region 9044
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532
NCBI chr17:78,132,089...78,132,478
G
LOC130061795
ATAC-STARR-seq lymphoblastoid active region 12864
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:9536098 PMID:12426567 PMID:16199547 PMID:17576681 PMID:22158547 PMID:25741868 PMID:28492532 More...
NCBI chr17:78,138,134...78,138,303
G
TMC6
transmembrane channel like 6
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD ClinVar
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36268689 More...
NCBI chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407
G
TMC8
transmembrane channel like 8
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 PMID:17368633 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr17:78,130,771...78,142,968
Ensembl chr17:78,130,770...78,142,968
G
TNRC6C
trinucleotide repeat containing adaptor 6C
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:28492532
NCBI chr17:77,957,557...78,108,835
Ensembl chr17:77,958,703...78,108,822
G
LOC130061785
ATAC-STARR-seq lymphoblastoid active region 12857
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:78,122,490...78,122,639
G
LOC130061786
ATAC-STARR-seq lymphoblastoid silent region 9039
IAGP
ClinVar Annotator: match by term: TMC6-related condition
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:78,124,789...78,125,038
G
LOC130061792
ATAC-STARR-seq lymphoblastoid silent region 9043
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532
NCBI chr17:78,131,459...78,131,978
G
LOC130061795
ATAC-STARR-seq lymphoblastoid active region 12864
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr17:78,138,134...78,138,303
G
TMC6
transmembrane channel like 6
susceptibility
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 | ClinVar Annotator: match by term: TMC6-related condition
ClinVar OMIM
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36268689 More...
NCBI chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407
G
TMC8
transmembrane channel like 8
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1
ClinVar
PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 PMID:28492532 More...
NCBI chr17:78,130,771...78,142,968
Ensembl chr17:78,130,770...78,142,968
G
LOC130061792
ATAC-STARR-seq lymphoblastoid silent region 9043
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532
NCBI chr17:78,131,459...78,131,978
G
LOC130061795
ATAC-STARR-seq lymphoblastoid active region 12864
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar
PMID:25741868
NCBI chr17:78,138,134...78,138,303
G
TMC6
transmembrane channel like 6
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar
PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407
G
TMC8
transmembrane channel like 8
susceptibility
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 ClinVar Annotator: match by term: Epidermodysplasia verruciformis 2 | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar OMIM
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16199547 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28646613 More...
NCBI chr17:78,130,771...78,142,968
Ensembl chr17:78,130,770...78,142,968
G
CIB1
calcium and integrin binding 1
susceptibility
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3
ClinVar OMIM
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:25741868 PMID:28492532 PMID:28646613 PMID:30068544 More...
NCBI chr15:90,229,975...90,265,759
Ensembl chr15:90,229,975...90,234,047
G
LOC130057907
ATAC-STARR-seq lymphoblastoid silent region 6817
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3
ClinVar
PMID:30068544
NCBI chr15:90,233,434...90,233,883
G
RHOH
ras homolog family member H
susceptibility
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4
ClinVar OMIM
PMID:22850876 PMID:25741868 PMID:28492532
NCBI chr 4:40,191,080...40,246,967
Ensembl chr 4:40,191,011...40,246,967
G
IL7
interleukin 7
susceptibility
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5
OMIM ClinVar
PMID:25981006
NCBI chr 8:78,675,044...78,805,463
Ensembl chr 8:78,675,743...78,805,523
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
APOE
apolipoprotein E
IMP
RGD
PMID:17101197
RGD:7771596
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
G
C3
complement C3
ISO
RGD
PMID:11509581
RGD:7401276
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
G
CCL2
C-C motif chemokine ligand 2
ISO
mRNA:increased expression:cornea (mouse)
RGD
PMID:9544579
RGD:8549472
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
G
CD1D
CD1d molecule
exacerbates
ISO
RGD
PMID:18614643
RGD:127345112
NCBI chr 1:158,178,030...158,186,427
Ensembl chr 1:158,178,030...158,186,427
G
CD274
CD274 molecule
ISO
RGD
PMID:29669784
RGD:41412169
NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
G
CD40LG
CD40 ligand
ISO
RGD
PMID:11134274
RGD:8547770
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
G
CD8A
CD8 subunit alpha
ISO
mRNA:increased expression:trigeminal ganglion (mouse)
RGD
PMID:19151393
RGD:124715454
NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
G
DOCK8
dedicator of cytokinesis 8
severity
ISO
RGD
PMID:25776845
RGD:11055046
NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259
G
IGF2BP1
insulin like growth factor 2 mRNA binding protein 1
ISO
RGD
PMID:30050136
RGD:40902865
NCBI chr17:48,996,558...49,056,145
Ensembl chr17:48,997,385...49,056,145
G
IL18
interleukin 18
treatment
ISO
RGD
PMID:9971824
RGD:8655923
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
G
IL21
interleukin 21
treatment
ISO
mRNA:increased expression:spleen (mouse)
RGD
PMID:19233474 PMID:16406655
RGD:127285367 , RGD:127285372
NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
G
IL32
interleukin 32
IEP
associated with human immunodeficiency virus infectious disease; protein,mRNA:decreased expression:CD4-positive��helper��T��cell��(human)
RGD
PMID:28007920
RGD:150340722
NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
G
IL33
interleukin 33
IEP ISO
protein:increased expression:skin
RGD
PMID:26872602 PMID:26872602
RGD:39939003 , RGD:39939003
NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
G
IRF5
interferon regulatory factor 5
susceptibility
IAGP
associated with multiple sclerosis;DNA:SNP: :rs3807306 (human)
RGD
PMID:20861862
RGD:40924643
NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
G
MBL1P
mannose binding lectin 1, pseudogene
ISO
protein:increased expression:serum:
RGD
PMID:15498041
RGD:8693727
NCBI chr10:79,920,178...79,923,119
Ensembl chr10:79,920,327...79,923,032 Ensembl chr10:79,920,327...79,923,032
G
MBL2
mannose binding lectin 2
susceptibility disease_progression
IAGP IEP IDA
DNA:polymorphism:cds:
RGD
PMID:19480845 PMID:15498041 PMID:15498041
RGD:8693725 , RGD:8693727 , RGD:8693727
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
G
NECTIN1
nectin cell adhesion molecule 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10729168
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
G
NECTIN2
nectin cell adhesion molecule 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10729168 PMID:11602758 PMID:30319691
NCBI chr19:44,846,297...44,889,223
Ensembl chr19:44,846,175...44,889,223
G
RIPK3
receptor interacting serine/threonine kinase 3
exacerbates
ISO
RGD
PMID:30050136 PMID:25316792
RGD:40902865 , RGD:127229943
NCBI chr14:24,336,025...24,339,991
Ensembl chr14:24,336,025...24,340,022
G
RPL30
ribosomal protein L30
IDA
protein:increased serine phosphorylation:ribosome
RGD
PMID:7588575
RGD:11039399
NCBI chr 8:98,041,721...98,045,545
Ensembl chr 8:98,024,851...98,046,469
G
APOE
apolipoprotein E
susceptibility
IAGP
DNA:polymorphism:exon:
RGD
PMID:11118260
RGD:7771554
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
G
AQP4
aquaporin 4
ISO
RGD
PMID:17454447
RGD:8698664
NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
G
CALCA
calcitonin related polypeptide alpha
treatment
ISO
RGD
PMID:22761571
RGD:7240516
NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354
G
CALCR
calcitonin receptor
treatment
ISO
RGD
PMID:22761571
RGD:7240516
NCBI chr 7:93,424,486...93,574,724
Ensembl chr 7:93,424,486...93,574,730
G
CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:22377584
RGD:8661752
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
ISO
RGD
PMID:23391218
RGD:8551839
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
G
CX3CR1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:22377584
RGD:8661752
NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735
G
GDNF
glial cell derived neurotrophic factor
ISO
mRNA:increased expression:brain:
RGD
PMID:15950786
RGD:8657070
NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041
G
IL1RL1
interleukin 1 receptor like 1
severity
ISO
RGD
PMID:26872602
RGD:39939003
NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037
G
IRF3
interferon regulatory factor 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr19:49,659,572...49,665,857
Ensembl chr19:49,659,569...49,665,875
G
LTA
lymphotoxin alpha
ISO
RGD
PMID:11145686
RGD:8548806
NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
G
MMP2
matrix metallopeptidase 2
ISO
protein:increased activity:brain
RGD
PMID:15364410
RGD:8547868
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 activity:brain
RGD
PMID:20483026 PMID:15364410
RGD:8547867 , RGD:8547868
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
G
STAT4
signal transducer and activator of transcription 4
susceptibility
ISO
RGD
PMID:17266445
RGD:8661706
NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
G
TICAM1
TIR domain containing adaptor molecule 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr19:4,815,932...4,831,712
Ensembl chr19:4,815,932...4,831,712
G
TLR2
toll like receptor 2
disease_progression
ISO
RGD
PMID:14739339 PMID:20806060
RGD:8553026 , RGD:5130178
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
G
TLR3
toll like receptor 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
G
TLR4
toll like receptor 4
ISO
RGD
PMID:20806060
RGD:5130178
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
G
TLR9
toll like receptor 9
resistance
ISO
mRNA:increased expression:cheek (rat)
RGD
PMID:20806060
RGD:5130178
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
G
TRAF3
TNF receptor associated factor 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr14:102,777,449...102,911,500
Ensembl chr14:102,777,449...102,911,500
G
UNC93B1
unc-93 homolog B1, TLR signaling regulator
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr11:67,991,100...68,004,097
Ensembl chr11:67,991,100...68,004,982
G
ANKRD37
ankyrin repeat domain 37
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:185,396,841...185,400,723
Ensembl chr 4:185,396,021...185,400,628
G
CCDC110
coiled-coil domain containing 110
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:185,445,182...185,471,733
Ensembl chr 4:185,445,182...185,471,752
G
CFAP96
cilia and flagella associated protein 96
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:185,408,434...185,449,826
Ensembl chr 4:185,426,249...185,449,826
G
CFAP97
cilia and flagella associated protein 97
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:185,159,665...185,210,248
Ensembl chr 4:185,159,665...185,209,504
G
CYP4V2
cytochrome P450 family 4 subfamily V member 2
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:186,191,567...186,213,463
Ensembl chr 4:186,191,567...186,213,463
G
F11
coagulation factor XI
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:186,266,189...186,289,681
Ensembl chr 4:186,266,189...186,289,681
G
FAM149A
family with sequence similarity 149 member A
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:186,104,704...186,175,337
Ensembl chr 4:186,104,419...186,175,337
G
FAT1
FAT atypical cadherin 1
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722
G
KLKB1
kallikrein B1
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:186,210,853...186,258,471
Ensembl chr 4:186,226,438...186,258,471
G
LOC130006234
ATAC-STARR-seq lymphoblastoid active region 5128
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:16973841 PMID:28492532
NCBI chr11:68,003,100...68,003,149
G
LOC130006235
ATAC-STARR-seq lymphoblastoid silent region 3653
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 ClinVar Annotator: match by term: Herpes simplex encephalitis 1 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532
NCBI chr11:68,003,450...68,003,859
G
LRP2BP
LRP2 binding protein
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:185,363,872...185,397,287
Ensembl chr 4:185,363,872...185,395,924
G
MTNR1A
melatonin receptor 1A
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:186,533,655...186,555,567
Ensembl chr 4:186,526,792...186,555,567
G
PDLIM3
PDZ and LIM domain 3
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:185,500,660...185,535,507
Ensembl chr 4:185,500,660...185,535,507
G
SLC25A4
solute carrier family 25 member 4
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
G
SNX25
sorting nexin 25
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:185,204,237...185,378,642
Ensembl chr 4:185,204,237...185,370,185
G
SORBS2
sorbin and SH3 domain containing 2
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:185,585,523...185,956,372
Ensembl chr 4:185,585,444...185,956,652
G
TBK1
TANK binding kinase 1
IAGP
ClinVar Annotator: match by term: HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1
ClinVar
PMID:25700176 PMID:25741868 PMID:25803835 PMID:26476236 PMID:26581300 PMID:28492532 More...
NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114
G
TLR3
toll like receptor 3
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 ClinVar Annotator: match by term: Herpes simplex encephalitis 1 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:9536098 PMID:15042513 PMID:16199547 PMID:17434873 PMID:17576681 PMID:17872438 PMID:19625408 PMID:19763152 PMID:20307669 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:22406018 PMID:24033266 PMID:25118264 PMID:25339207 PMID:25629076 PMID:25741868 PMID:26193622 PMID:26513235 PMID:27872624 PMID:28046022 PMID:28368532 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:31268141 PMID:32936395 PMID:33174085 PMID:34813006 More...
NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
G
UFSP2
UFM1 specific peptidase 2
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar
PMID:15042513 PMID:25118264 PMID:25629076 PMID:28492532
NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979
G
UNC93B1
unc-93 homolog B1, TLR signaling regulator
susceptibility
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1 ClinVar Annotator: match by term: Herpes simplex encephalitis 1 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 1
ClinVar OMIM
PMID:9536098 PMID:16199547 PMID:16973841 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr11:67,991,100...68,004,097
Ensembl chr11:67,991,100...68,004,982
G
ADSS1
adenylosuccinate synthase 1
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,174...104,747,325
G
AHNAK2
AHNAK nucleoprotein 2
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:104,937,253...104,978,374
Ensembl chr14:104,937,244...104,978,374
G
AKT1
AKT serine/threonine kinase 1
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
G
AMN
amnion associated transmembrane protein
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:102,922,663...102,930,842
Ensembl chr14:102,922,663...102,933,596
G
ANKRD9
ankyrin repeat domain 9
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:102,501,767...102,509,776
Ensembl chr14:102,501,767...102,509,799
G
ASPG
asparaginase
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:104,085,700...104,115,582
Ensembl chr14:104,085,686...104,115,582
G
ATP5MJ
ATP synthase membrane subunit j
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:103,912,288...103,921,529
Ensembl chr14:103,912,288...103,928,269
G
BAG5
BAG cochaperone 5
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:103,556,551...103,562,657
Ensembl chr14:103,556,545...103,562,657
G
BRF1
BRF1 general transcription factor IIIB subunit
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589
G
BTBD6
BTB domain containing 6
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:105,248,533...105,251,093
Ensembl chr14:105,248,533...105,251,093
G
C14orf180
chromosome 14 open reading frame 180
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:104,579,764...104,590,515
Ensembl chr14:104,579,764...104,590,515
G
CDC42BPB
CDC42 binding protein kinase beta
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549
G
CDCA4
cell division cycle associated 4
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:105,009,573...105,021,083
Ensembl chr14:105,009,573...105,021,083
G
CEP170B
centrosomal protein 170B
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:104,864,513...104,896,747
Ensembl chr14:104,865,268...104,896,747
G
CINP
cyclin dependent kinase 2 interacting protein
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:102,348,282...102,362,890
Ensembl chr14:102,341,102...102,362,916
G
CKB
creatine kinase B
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:103,519,667...103,522,830
Ensembl chr14:103,519,667...103,522,833
G
CLBA1
clathrin binding box of aftiphilin containing 1
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:104,985,788...105,001,274
Ensembl chr14:104,985,775...105,010,482
G
COA8
cytochrome c oxidase assembly factor 8
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:103,562,960...103,590,899
Ensembl chr14:103,562,960...103,607,523
G
DYNC1H1
dynein cytoplasmic 1 heavy chain 1
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443
G
EIF5
eukaryotic translation initiation factor 5
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:103,334,237...103,345,025
Ensembl chr14:103,333,544...103,345,025
G
EXOC3L4
exocyst complex component 3 like 4
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:103,094,174...103,110,559
Ensembl chr14:103,094,725...103,110,559
G
GPR132
G protein-coupled receptor 132
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:105,049,395...105,065,430
Ensembl chr14:105,049,395...105,065,445
G
HSP90AA1
heat shock protein 90 alpha family class A member 1
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:102,080,742...102,139,749
Ensembl chr14:102,080,742...102,139,699
G
INF2
inverted formin 2
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:104,681,133...104,722,535
Ensembl chr14:104,681,146...104,722,535
G
JAG2
jagged canonical Notch ligand 2
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824
G
KIF26A
kinesin family member 26A
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:104,138,587...104,180,894
Ensembl chr14:104,136,454...104,180,894
G
KLC1
kinesin light chain 1
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:103,629,211...103,701,544
Ensembl chr14:103,561,896...103,714,249
G
LOC126862065
BRD4-independent group 4 enhancer GRCh37_chr14:103352003-103353202
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:102,885,666...102,886,865
G
LOC130056550
ATAC-STARR-seq lymphoblastoid active region 9091
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:102,901,504...102,901,933
G
LOC130056551
ATAC-STARR-seq lymphoblastoid active region 9092
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:102,916,710...102,916,849
G
LOC130056552
ATAC-STARR-seq lymphoblastoid silent region 6134
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:102,922,887...102,923,086
G
LOC130056553
ATAC-STARR-seq lymphoblastoid silent region 6135
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:102,928,299...102,928,488
G
LOC130056554
ATAC-STARR-seq lymphoblastoid silent region 6136
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:102,930,018...102,930,277
G
MARK3
microtubule affinity regulating kinase 3
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:103,385,415...103,503,831
Ensembl chr14:103,385,377...103,503,831
G
MIR203A
microRNA 203a
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:104,117,405...104,117,514
Ensembl chr14:104,117,405...104,117,514
G
MOK
MOK protein kinase
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:102,214,596...102,305,164
Ensembl chr14:102,224,500...102,305,190
G
NUDT14
nudix hydrolase 14
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:105,172,939...105,181,312
Ensembl chr14:105,172,938...105,181,323
G
PACS2
phosphofurin acidic cluster sorting protein 2
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147
G
PLD4
phospholipase D family member 4
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:104,924,879...104,937,785
Ensembl chr14:104,924,713...104,937,761
G
PPP1R13B
protein phosphatase 1 regulatory subunit 13B
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:103,733,195...103,848,814
Ensembl chr14:103,733,195...103,847,575
G
PPP2R5C
protein phosphatase 2 regulatory subunit B'gamma
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:101,760,573...101,927,992
Ensembl chr14:101,761,709...101,927,989
G
RCOR1
REST corepressor 1
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:102,592,649...102,730,561
Ensembl chr14:102,592,649...102,730,561
G
RD3L
RD3 like
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:103,940,426...103,942,529
Ensembl chr14:103,940,426...103,942,561
G
SIVA1
SIVA1 apoptosis inducing factor
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:104,753,147...104,759,654
Ensembl chr14:104,753,147...104,768,494
G
TDRD9
tudor domain containing 9
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:103,928,456...104,052,667
Ensembl chr14:103,928,456...104,052,667
G
TECPR2
tectonin beta-propeller repeat containing 2
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:102,362,941...102,502,477
Ensembl chr14:102,362,941...102,502,477
G
TMEM179
transmembrane protein 179
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:104,590,864...104,604,772
Ensembl chr14:104,474,678...104,605,647
G
TNFAIP2
TNF alpha induced protein 2
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:103,121,469...103,137,439
Ensembl chr14:103,121,476...103,137,439
G
TRAF3
TNF receptor associated factor 3
susceptibility
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3 | ClinVar Annotator: match by term: TRAF3-related condition ClinVar Annotator: match by term: TRAF3 haploinsufficiency
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31681265 PMID:35960817 PMID:36004314 More...
NCBI chr14:102,777,449...102,911,500
Ensembl chr14:102,777,449...102,911,500
G
TRMT61A
tRNA methyltransferase 61A
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:103,529,196...103,537,073
Ensembl chr14:103,529,196...103,537,073
G
WDR20
WD repeat domain 20
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:102,139,423...102,224,839
Ensembl chr14:102,139,503...102,224,847
G
XRCC3
X-ray repair cross complementing 3
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:103,697,617...103,715,451
Ensembl chr14:103,697,609...103,715,504
G
ZBTB42
zinc finger and BTB domain containing 42
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:104,800,554...104,804,712
Ensembl chr14:104,800,596...104,804,712
G
ZFYVE21
zinc finger FYVE-type containing 21
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:103,715,810...103,733,664
Ensembl chr14:103,715,730...103,733,668
G
ZNF839
zinc finger protein 839
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:102,317,506...102,342,367
Ensembl chr14:102,317,377...102,342,702
G
TICAM1
TIR domain containing adaptor molecule 1
susceptibility
IAGP
ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 4 ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 4
ClinVar OMIM
PMID:22105173 PMID:24033266 PMID:25741868 PMID:26513235 PMID:28492532
NCBI chr19:4,815,932...4,831,712
Ensembl chr19:4,815,932...4,831,712
G
IRF3
interferon regulatory factor 3
susceptibility
IAGP
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7
OMIM ClinVar
PMID:25741868 PMID:26216125 PMID:26513235 PMID:28492532
NCBI chr19:49,659,572...49,665,857
Ensembl chr19:49,659,569...49,665,875
G
APOE
apolipoprotein E
treatment
IDA
RGD
PMID:18515564
RGD:7771550
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
G
ATM
ATM serine/threonine kinase
ameliorates
ISO
RGD
PMID:24370835
RGD:126781690
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
G
CCL2
C-C motif chemokine ligand 2
severity
ISO
associated with Herpes Simplex, Type 1
RGD
PMID:16997857
RGD:8548890
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
G
CCL20
C-C motif chemokine ligand 20
ISO
RGD
PMID:15287366
RGD:7483593
NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
G
CCR5
C-C motif chemokine receptor 5
ISO
RGD
PMID:18798077 PMID:16476970
RGD:8551819 , RGD:8551837
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
G
CCR6
C-C motif chemokine receptor 6
ISO
RGD
PMID:15287366
RGD:7483593
NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141
G
CD274
CD274 molecule
ISO
RGD
PMID:16253242
RGD:41410794
NCBI chr 9:5,450,542...5,470,554
Ensembl chr 9:5,450,503...5,470,566
G
CXCR3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:18798077
RGD:8551819
NCBI chr X:71,615,919...71,618,511
Ensembl chr X:71,615,916...71,618,511
G
EIF2AK2
eukaryotic translation initiation factor 2 alpha kinase 2
treatment
ISO
RGD
PMID:15670795
RGD:40902819
NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522
G
IFNB1
interferon beta 1
treatment
ISO
RGD
PMID:15670795
RGD:40902819
NCBI chr 9:21,077,104...21,077,942
Ensembl chr 9:21,077,104...21,077,942
G
IFNG
interferon gamma
ISO
RGD
PMID:12162877
RGD:8157603
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
G
IL10
interleukin 10
treatment
ISO
RGD
PMID:22467659
RGD:7364834
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
G
IL1B
interleukin 1 beta
ISO
mRNA:increased expression:cornea
RGD
PMID:10624423
RGD:7401196
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
IDA
human protein in a mouse model
RGD
PMID:15258192
RGD:8549793
NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
G
IL21
interleukin 21
treatment
ISO
RGD
PMID:29370719 PMID:21204603
RGD:127285376 , RGD:127285545
NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
G
IL23A
interleukin 23 subunit alpha
ISO
mRNA;increased expression:trigeminal ganglion (mouse)
RGD
PMID:12162874
RGD:39457946
NCBI chr12:56,338,884...56,340,410
Ensembl chr12:56,334,174...56,340,410
G
KDR
kinase insert domain receptor
treatment
ISO
protein:increased expression:cornea:
RGD
PMID:16951377 PMID:16951377
RGD:8549742 , RGD:8549742
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
G
RNASEL
ribonuclease L
treatment
ISO
RGD
PMID:15670795
RGD:40902819
NCBI chr 1:182,573,634...182,589,256
Ensembl chr 1:182,573,634...182,589,256
G
STAT4
signal transducer and activator of transcription 4
susceptibility
ISO
RGD
PMID:17266445
RGD:8661706
NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
G
TLR2
toll like receptor 2
ISO
RGD
PMID:17686871
RGD:7794851
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:increased expression:cornea:
RGD
PMID:17686871 PMID:17667620
RGD:7794851 , RGD:8552970
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
RGD
PMID:17686871
RGD:7794851
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
G
TNF
tumor necrosis factor
ISO
mRNA:increased expression:cornea
RGD
PMID:10624423 PMID:12162877
RGD:7401196 , RGD:8157603
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
G
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
G
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
G
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
G
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
G
CARD9
caspase recruitment domain family member 9
susceptibility
IAGP
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar OMIM
PMID:9536098 PMID:9835960 PMID:16199547 PMID:17576681 PMID:19864672 PMID:21983784 PMID:22730530 PMID:23335372 PMID:24033266 PMID:24068945 PMID:24131138 PMID:24231284 PMID:24704721 PMID:25702837 PMID:25731871 PMID:25741868 PMID:25933095 PMID:26038974 PMID:26521038 PMID:26679537 PMID:26961233 PMID:27490946 PMID:27777981 PMID:28252032 PMID:28492532 PMID:28842327 PMID:29080677 PMID:29307770 PMID:29890237 PMID:30136218 PMID:30429846 PMID:30537277 PMID:30809743 PMID:30837984 PMID:31102464 PMID:31414217 PMID:31469433 PMID:32888943 PMID:33414972 PMID:33558980 PMID:33872781 PMID:34234782 PMID:35628702 PMID:35727133 More...
NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681
G
ENTR1
endosome associated trafficking regulator 1
IAGP
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 9:136,401,922...136,410,614
Ensembl chr 9:136,401,922...136,410,614
G
INPP5E
inositol polyphosphate-5-phosphatase E
IAGP
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
G
LOC113839540
Sharpr-MPRA regulatory region 3996
IAGP
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:25741868
NCBI chr 9:136,373,537...136,373,831
G
LOC130003002
ATAC-STARR-seq lymphoblastoid silent region 20510
IAGP
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:136,364,010...136,364,109
G
PMPCA
peptidase, mitochondrial processing subunit alpha
IAGP
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,630...136,427,992
G
SNAPC4
small nuclear RNA activating complex polypeptide 4
IAGP
ClinVar Annotator: match by term: IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS
ClinVar
PMID:28492532
NCBI chr 9:136,375,571...136,400,170
Ensembl chr 9:136,375,567...136,400,176
G
CD28
CD28 molecule
IAGP
ClinVar Annotator: match by term: Immunodeficiency 123 with HPV-related verrucosis
OMIM ClinVar
NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756
G
IL21R
interleukin 21 receptor
IAGP
ClinVar Annotator: match by term: Immunodeficiency 31C
ClinVar
PMID:25741868
NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042
G
STAT1
signal transducer and activator of transcription 1
IAGP
ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome ClinVar Annotator: match by term: Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | ClinVar Annotator: match by term: Candidiasis, familial, 7 | ClinVar Annotator: match by term: Immunodeficiency 31C
ClinVar OMIM
PMID:9536098 PMID:17576681 PMID:21714643 PMID:21727188 PMID:22195034 PMID:22730530 PMID:22847544 PMID:23245795 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24188975 PMID:24239102 PMID:24343863 PMID:25042743 PMID:25288569 PMID:25326637 PMID:25367169 PMID:25741868 PMID:26242301 PMID:26255980 PMID:26479788 PMID:26494717 PMID:26513235 PMID:26604104 PMID:26743090 PMID:27114460 PMID:27379765 PMID:27577878 PMID:28011069 PMID:28161409 PMID:28258222 PMID:28427548 PMID:28492532 PMID:28597685 PMID:28622416 PMID:28753426 PMID:28815025 PMID:30317461 PMID:30442829 PMID:31362757 PMID:31448411 PMID:31677808 PMID:32582194 PMID:32888943 PMID:33679782 More...
NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
G
ADA2
adenosine deaminase 2
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
G
ARVCF
ARVCF delta catenin family member
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
G
ATP6V1E1
ATPase H+ transporting V1 subunit E1
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749
G
BCL2L13
BCL2 like 13
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:17,628,877...17,730,855
Ensembl chr22:17,628,855...17,730,855
G
BID
BH3 interacting domain death agonist
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:17,734,138...17,774,665
Ensembl chr22:17,734,138...17,774,770
G
C22orf39
chromosome 22 open reading frame 39
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:19,440,886...19,447,711
Ensembl chr22:19,351,368...19,447,711
G
CDC45
cell division cycle 45
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612
G
CECR2
CECR2 histone acetyl-lysine reader
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:17,359,949...17,558,151
Ensembl chr22:17,359,949...17,558,151
G
CECR3
cat eye syndrome chromosome region, candidate 3
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:17,256,859...17,266,733
Ensembl chr22:17,256,859...17,266,822
G
CLDN5
claudin 5
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:19,523,024...19,525,337
Ensembl chr22:19,523,024...19,527,545
G
CLTCL1
clathrin heavy chain like 1
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:19,179,473...19,291,719
Ensembl chr22:19,179,473...19,291,719
G
COMT
catechol-O-methyltransferase
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
G
DGCR2
DiGeorge syndrome critical region gene 2
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454
G
DGCR6
DiGeorge syndrome critical region gene 6
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:18,906,223...18,912,088
Ensembl chr22:18,906,028...18,914,238
G
ESS2
ess-2 splicing factor homolog
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684
G
GNB1L
G protein subunit beta 1 like
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:19,783,223...19,854,874
Ensembl chr22:19,783,223...19,854,939
G
GP1BB
glycoprotein Ib platelet subunit beta
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
G
GSC2
goosecoid homeobox 2
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:19,146,993...19,150,292
Ensembl chr22:19,146,993...19,150,292
G
HDHD5
haloacid dehalogenase like hydrolase domain containing 5
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:17,137,520...17,165,287
Ensembl chr22:17,137,511...17,165,287
G
HIRA
histone cell cycle regulator
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
G
IL17RA
interleukin 17 receptor A
IAGP
ClinVar Annotator: match by term: Immunodeficiency 51 ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 PMID:24552284 PMID:24552285 PMID:25741868 PMID:26607704 PMID:26871944 PMID:27930337 PMID:28492532 More...
NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693
G
LOC126863094
MED14-independent group 3 enhancer GRCh37_chr22:17587847-17589046
IAGP
ClinVar Annotator: match by term: Immunodeficiency 51
ClinVar
PMID:25741868 PMID:28492532
NCBI chr22:17,106,957...17,108,156
G
LOC129391259
MPRA-validated peak4440 silencer
IAGP
ClinVar Annotator: match by term: Immunodeficiency 51
ClinVar
PMID:25741868 PMID:28492532
NCBI chr22:17,105,810...17,106,010
G
LOC130066893
ATAC-STARR-seq lymphoblastoid silent region 13429
IAGP
ClinVar Annotator: match by term: Immunodeficiency 51
ClinVar
NCBI chr22:17,084,783...17,085,002
G
LOC130066894
ATAC-STARR-seq lymphoblastoid silent region 13430
IAGP
ClinVar Annotator: match by term: Immunodeficiency 51
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr22:17,085,023...17,085,142
G
MICAL3
microtubule associated monooxygenase, calponin and LIM domain containing 3
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:17,787,649...18,024,561
Ensembl chr22:17,787,649...18,024,561
G
MRPL40
mitochondrial ribosomal protein L40
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:19,432,545...19,436,075
Ensembl chr22:19,432,545...19,436,075
G
PEX26
peroxisomal biogenesis factor 26
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396
G
PRODH
proline dehydrogenase 1
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:18,912,781...18,936,553
Ensembl chr22:18,912,777...18,936,553
G
RTL10
retrotransposon Gag like 10
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:19,846,146...19,854,874
Ensembl chr22:19,846,138...19,854,896
G
SEPTIN5
septin 5
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:19,714,503...19,723,319
Ensembl chr22:19,714,503...19,724,224
G
SLC25A1
solute carrier family 25 member 1
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739
G
SLC25A18
solute carrier family 25 member 18
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:17,563,498...17,590,995
Ensembl chr22:17,563,450...17,590,995
G
TANGO2
transport and golgi organization 2 homolog
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164
G
TBX1
T-box transcription factor 1
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
G
TMEM121B
transmembrane protein 121B
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:17,116,297...17,121,360
Ensembl chr22:17,116,297...17,121,367
G
TSSK2
testis specific serine kinase 2
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:19,131,308...19,132,622
Ensembl chr22:19,131,308...19,132,622
G
TUBA8
tubulin alpha 8
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:18,110,809...18,131,732
Ensembl chr22:18,110,100...18,146,683
G
TXNRD2
thioredoxin reductase 2
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820
G
UFD1
ubiquitin recognition factor in ER associated degradation 1
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
G
USP18
ubiquitin specific peptidase 18
IAGP
ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 5
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,149,843...18,177,397
G
TLR3
toll like receptor 3
IAGP
ClinVar Annotator: match by term: Immunodeficiency 83, susceptibility to viral infections
ClinVar OMIM
PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 PMID:22174453 PMID:24033266 PMID:25339207 PMID:25741868 PMID:26193622 PMID:26513235 PMID:28046022 PMID:28368532 PMID:28492532 PMID:29217828 PMID:29305044 PMID:31217193 PMID:31268141 PMID:32936395 PMID:33174085 PMID:34813006 More...
NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
G
AGER
advanced glycosylation end-product specific receptor
ISO
RGD
PMID:21423669
RGD:5508765
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
G
CCL2
C-C motif chemokine ligand 2
severity
ISO
RGD
PMID:11160230
RGD:11528533
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
G
CCL20
C-C motif chemokine ligand 20
ISO
protein:increased expression:lung
RGD
PMID:20926800
RGD:7483599
NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
G
CCR6
C-C motif chemokine receptor 6
disease_progression
ISO
RGD
PMID:17379855
RGD:7483617
NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141
G
CXCR3
C-X-C motif chemokine receptor 3
IEP
RGD
PMID:17298426
RGD:5135501
NCBI chr X:71,615,919...71,618,511
Ensembl chr X:71,615,916...71,618,511
G
CYBB
cytochrome b-245 beta chain
ISO
RGD
PMID:24054721
RGD:10450528
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
IAGP
DNA:polymorphisms:cds:
RGD
PMID:26861072
RGD:124713410
NCBI chr10:94,762,681...94,855,547
Ensembl chr10:94,762,681...94,855,547
G
ELANE
elastase, neutrophil expressed
ISO
RGD
PMID:24054721
RGD:10450528
NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
G
IL17A
interleukin 17A
severity
ISO
RGD
PMID:21807912
RGD:8698654
NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
G
MBL2
mannose binding lectin 2
IAGP
DNA:SNP:exon:rs5030737(human)
RGD
PMID:17311505
RGD:8693758
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
G
PTX3
pentraxin 3
severity
IAGP IEP
DNA:SNPs, missense mutation:intron, cds:rs2305619, rs1840680, rs3816527 protein:increased expression:bronchoalveolar lavage fluid (human)
RGD
PMID:30275011 PMID:28487045
RGD:38501097 , RGD:38508892
NCBI chr 3:157,436,850...157,443,633
Ensembl chr 3:157,436,850...157,443,633
G
S100B
S100 calcium binding protein B
ISO
RGD
PMID:21423669
RGD:5508765
NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208
G
TLR2
toll like receptor 2
ISO
RGD
PMID:16113258
RGD:8553022
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:polymorphism:exon:p.D299G(human)
RGD
PMID:18275280
RGD:5130863
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
G
CCL2
C-C motif chemokine ligand 2
treatment
ISO
RGD
PMID:12917249
RGD:11528529
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
G
CD209
CD209 molecule
susceptibility
IAGP
DNA:SNPs:3'utr,intron:multiple
RGD
PMID:22384201
RGD:39938996
NCBI chr19:7,739,993...7,747,534
Ensembl chr19:7,739,993...7,747,564
G
FGF2
fibroblast growth factor 2
treatment
IDA
RGD
PMID:23303813
RGD:8655596
NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
G
IL1A
interleukin 1 alpha
IAGP
DNA:polymorphism, haplotype:promoter:-889C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
G
IL1B
interleukin 1 beta
IAGP
DNA:polymorphism, haplotype: :-511C>T (human)
RGD
PMID:18484169
RGD:4142867
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
G
ITIH4
inter-alpha-trypsin inhibitor heavy chain 4
ISO
protein:increased expression:respiratory system fluid/secretion, serum
RGD
PMID:24360996
RGD:40903005
NCBI chr 3:52,812,962...52,830,672
Ensembl chr 3:52,812,962...52,830,688
G
MBL2
mannose binding lectin 2
treatment
IDA
RGD
PMID:17335555
RGD:8693746
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
G
PTX3
pentraxin 3
susceptibility no_association
IAGP IEP
DNA:SNP:intron:rs1840680 (human) protein:increased expression:bronchoalveolar lavage fluid, plasma (human) protein:increased expression:plasma DNA:SNP, missense mutation:intron, cds:rs2305619, rs3816527
RGD
PMID:29020397 PMID:29964232 PMID:29020397 PMID:29020397
RGD:38501098 , RGD:38508894 , RGD:38501098 , RGD:38501098
NCBI chr 3:157,436,850...157,443,633
Ensembl chr 3:157,436,850...157,443,633
G
VEGFA
vascular endothelial growth factor A
treatment
IDA
RGD
PMID:23303813
RGD:8655596
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
G
AGER
advanced glycosylation end-product specific receptor
ISO
protein:increased expression:brain
RGD
PMID:25014011
RGD:8695986
NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
G
ARG1
arginase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21232540
NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332
G
BTK
Bruton tyrosine kinase
susceptibility
ISO
RGD
PMID:28783468
RGD:124715477
NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796
G
C3
complement C3
ISO
RGD
PMID:15378355
RGD:7401274
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
G
CCR2
C-C motif chemokine receptor 2
ISO
RGD
PMID:10899907
RGD:8661227
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
disease_progression
ISO IEP
associated with HIV Infections;protein:increased expression:blood, T cell
RGD
PMID:10553079 PMID:17457607
RGD:8551832 , RGD:8551841
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
G
CRP
C-reactive protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17218153
NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589
G
DUSP1
dual specificity phosphatase 1
treatment
ISO
RGD
PMID:21471446
RGD:7771536
NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195
G
DUSP6
dual specificity phosphatase 6
treatment
ISO
RGD
PMID:21471446
RGD:7771536
NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501
G
IFNG
interferon gamma
IEP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16540374 PMID:17218153 PMID:2145107
RGD:7829781
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
G
IL10
interleukin 10
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374 PMID:20404924
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
G
IL18
interleukin 18
treatment
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16879623 PMID:10768930
RGD:8655909
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
G
IL2
interleukin 2
ISO
RGD
PMID:6224858
RGD:8693326
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
G
IL21
interleukin 21
exacerbates
ISO
protein:increased expression:popliteal lymph node (mouse)
RGD
PMID:22429963
RGD:127285547
NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
G
IL27
interleukin 27
exacerbates
ISO
RGD
PMID:25466588
RGD:126790552
NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
G
IL4
interleukin 4
treatment
IEP ISO
protein:increased expression:serum
RGD
PMID:2145107 PMID:2521244
RGD:7829781 , RGD:7829820
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
G
IL6
interleukin 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
G
ITGB2
integrin subunit beta 2
ameliorates
ISO
RGD
PMID:14502280
RGD:127285813
NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989
G
MCL1
MCL1 apoptosis regulator, BCL2 family member
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26670606
NCBI chr 1:150,574,558...150,579,610
Ensembl chr 1:150,560,895...150,579,738
G
SLC6A4
solute carrier family 6 member 4
IEP
lupoid leishmaniasis;protein:increased expression:skin of body (human)
RGD
PMID:23989888
RGD:36947873
NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002
G
TNF
tumor necrosis factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16540374
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
G
TNFRSF18
TNF receptor superfamily member 18
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20139272
NCBI chr 1:1,203,508...1,206,592
Ensembl chr 1:1,203,508...1,206,592
G
TNFSF4
TNF superfamily member 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10637281
NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,162,645...173,477,583
G
TREM1
triggering receptor expressed on myeloid cells 1
severity
ISO
RGD
PMID:24453980
RGD:126925972
NCBI chr 6:41,267,385...41,286,682
Ensembl chr 6:41,267,100...41,286,682
G
VDR
vitamin D receptor
ISO
RGD
PMID:17551101
RGD:8158083
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
G
TLR2
toll like receptor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29253318
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
G
TLR2
toll like receptor 2
IEP
protein:increased expression,altered expression:cytoplasm,membrane, nucleus:
RGD
PMID:24617037
RGD:8553046
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
G
IFNG
interferon gamma
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:7854095
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
G
LTA
lymphotoxin alpha
IAGP
DNA:polymorphism:intron
RGD
PMID:7595196
RGD:8548799
NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
G
TNF
tumor necrosis factor
IAGP
DNA:SNP:promoter:-308G>A (human)
RGD
PMID:7595196
RGD:8548799
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
G
IL1R1
interleukin 1 receptor type 1
ISO
RGD
PMID:19168746
RGD:8662882
NCBI chr 2:102,070,390...102,179,874
Ensembl chr 2:102,064,544...102,179,874
G
TLR4
toll like receptor 4
ISO
RGD
PMID:11884755
RGD:7794682
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
G
HLA-DPA1
major histocompatibility complex, class II, DP alpha 1
IAGP
RGD
PMID:8854084
RGD:6480649
NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775
G
HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
susceptibility
IAGP
DNA:polymorphisms: :HLA-DQA1*0401, HLA-DQA1*0102,HLA-DQA1*0103;
RGD
PMID:22117902
RGD:8547660
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
G
IL13
interleukin 13
severity
IEP
protein:increased expression:serum
RGD
PMID:22805723
RGD:8549600
NCBI chr 5:132,656,522...132,661,110
Ensembl chr 5:132,656,263...132,661,110
G
CCR5
C-C motif chemokine receptor 5
ISO
RGD
PMID:18292527
RGD:4892087
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
G
CD28
CD28 molecule
ISO
RGD
PMID:20713624
RGD:5131616
NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756
G
CFB
complement factor B
IEP
RGD
PMID:7921333
RGD:7421526
NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
G
HLA-DRB1
major histocompatibility complex, class II, DR beta 1
severity
IAGP
DNA:polymorphism, haplotype:cds:HLA-DRB1*11 (human)
RGD
PMID:17325942
RGD:5147631
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
G
ICAM1
intercellular adhesion molecule 1
ISO
RGD
PMID:17003484
RGD:8547589
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
G
IDO1
indoleamine 2,3-dioxygenase 1
ISO
mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse)
RGD
PMID:27992577
RGD:39939072
NCBI chr 8:39,913,891...39,928,790
Ensembl chr 8:39,902,275...39,928,790
G
IL18
interleukin 18
treatment
IEP
RGD
PMID:28992214
RGD:39938858
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
G
IL1B
interleukin 1 beta
treatment
IEP
RGD
PMID:28992214
RGD:39938858
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
treatment
IEP
RGD
PMID:28992214
RGD:39938858
NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037
G
IL32
interleukin 32
IEP
protein:increased expression:mouth mucosa, mononuclear cell (human)
RGD
PMID:33771629
RGD:150340738
NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
G
IL33
interleukin 33
treatment
IEP
RGD
PMID:28992214
RGD:39938858
NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
G
IL37
interleukin 37
treatment
IEP
RGD
PMID:28992214
RGD:39938858
NCBI chr 2:112,911,165...112,918,882
Ensembl chr 2:112,911,165...112,918,882
G
MMP2
matrix metallopeptidase 2
ISO
RGD
PMID:19765107
RGD:8657058
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
G
MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:19765107
RGD:8657058
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
G
TNF
tumor necrosis factor
susceptibility
IAGP
DNA:SNP:promoter:−308G>A(human)
RGD
PMID:17145373
RGD:7401182
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
G
PTX3
pentraxin 3
IEP
protein:increased expression:bronchoalveolar lavage fluid, plasma (human)
RGD
PMID:29964232
RGD:38508894
NCBI chr 3:157,436,850...157,443,633
Ensembl chr 3:157,436,850...157,443,633
G
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
G
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
G
CAT
catalase
treatment
IEP
RGD
PMID:17884035
RGD:9479747
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
G
CCL20
C-C motif chemokine ligand 20
IEP
protein:decreased expression:skin
RGD
PMID:21715145
RGD:7483622
NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
G
CLU
clusterin
ISO
RGD
PMID:11085517
RGD:8746700
NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
G
FGF10
fibroblast growth factor 10
ISO
protein:increased expression:skin (mouse)
RGD
PMID:24582960
RGD:126928134
NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706
G
MIR21
microRNA 21
ameliorates
ISO
RGD
PMID:21646541
RGD:41404663
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
G
NRG1
neuregulin 1
HEP
DNA:hypermethylation:
RGD
PMID:31892232
RGD:39456089
NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666
G
TLR2
toll like receptor 2
IEP
protein:increased expression,altered expression:cytoplasm,membrane, nucleus:
RGD
PMID:24617037
RGD:8553046
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
G
IRF1
interferon regulatory factor 1
treatment
IAGP
DNA:SNPs,haplotype: :rs839, rs9282763(human)
RGD
PMID:18454680
RGD:42722608
NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719
G
MTHFR
methylenetetrahydrofolate reductase
treatment
IAGP
DNA:SNP:exon:rs1801133(human)
RGD
PMID:18454680
RGD:42722608
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
G
ADA
adenosine deaminase
ISO
protein:altered activity:serum,lymphocyte
RGD
PMID:22169893
RGD:152995407
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
G
TLR4
toll like receptor 4
ISO
RGD
PMID:19740386
RGD:7794681
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
G
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
G
IL18
interleukin 18
treatment
ISO
RGD
PMID:21536791
RGD:8655921
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
G
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
G
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
G
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
G
IL18
interleukin 18
treatment
ISO
RGD
PMID:16129701
RGD:8655932
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
G
IL5
interleukin 5
severity
ISO
RGD
PMID:9824515
RGD:11354934
NCBI chr 5:132,541,445...132,556,815
Ensembl chr 5:132,541,445...132,556,838
G
IL1A
interleukin 1 alpha
ISO
RGD
PMID:7835923
RGD:7794724
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
G
CCL11
C-C motif chemokine ligand 11
ISO
protein:increased expression:plasma, respiratory system fluid/secretion
RGD
PMID:16168564
RGD:7248410
NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334
G
IL4
interleukin 4
treatment
IEP
RGD
PMID:26732352
RGD:11534298
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
G
OLIG2
oligodendrocyte transcription factor 2
ISO
RGD
PMID:25773181
RGD:40902825
NCBI chr21:33,025,935...33,029,185
Ensembl chr21:33,025,935...33,029,196
G
AICDA
activation induced cytidine deaminase
ISO
mRNA:altered expression:Bcell,CD4Tcell
RGD
PMID:31001826
RGD:32716386
NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242
G
CCL4
C-C motif chemokine ligand 4
IEP
protein:increased expression:serum
RGD
PMID:21991751
RGD:5683905
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
associated with Malnutrition;mRNA:increased expression:lymph node,spleen:
RGD
PMID:24818662
RGD:8661728
NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
G
CCR3
C-C motif chemokine receptor 3
IEP
protein:increased expression:blood, T cell
RGD
PMID:15379987
RGD:6893393
NCBI chr 3:46,210,696...46,266,706
Ensembl chr 3:46,130,890...46,266,706
G
CCR5
C-C motif chemokine receptor 5
treatment
ISO
RGD
PMID:24617012
RGD:14401738
NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206
G
CD163
CD163 molecule
exacerbates
IEP
protein:increased expression:blood serum (human)
RGD
PMID:28355218
RGD:127345133
NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
G
CD40
CD40 molecule
treatment
ISO
RGD
PMID:14573667
RGD:8547750
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
G
CD40LG
CD40 ligand
ISO
RGD
PMID:14573667
RGD:8547750
NCBI chr X:136,648,158...136,660,390
Ensembl chr X:136,648,158...136,660,390
G
CRP
C-reactive protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10467834
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
IDA EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17404324 PMID:8035028
RGD:10449527
NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
G
CXCL10
C-X-C motif chemokine ligand 10
ISO
mRNA:increased expression:liver
RGD
PMID:16239557
RGD:27095947
NCBI chr 4:76,021,118...76,023,497
Ensembl chr 4:76,021,118...76,023,497
G
CXCL8
C-X-C motif chemokine ligand 8
treatment susceptibility
EXP IDA IAGP
CTD Direct Evidence: marker/mechanism DNA:SNP:promoter:g.-251A>T (human)
CTD RGD
PMID:22461696 PMID:32984951 PMID:25821028
RGD:150523791 , RGD:150523789
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
G
HLA-DQA1
major histocompatibility complex, class II, DQ alpha 1
susceptibility
EXP IAGP
CTD Direct Evidence: marker/mechanism DNA:SNP:enhancer: (rs9271858) (human)
CTD RGD
PMID:23291585 PMID:23291585
RGD:127285406
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
G
HLA-DRB1
major histocompatibility complex, class II, DR beta 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23291585
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
G
HMOX1
heme oxygenase 1
treatment
EXP IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22461696 PMID:23729024
RGD:42724459
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
G
IFNG
interferon gamma
treatment
ISO EXP
CTD Direct Evidence: therapeutic
CTD RGD
PMID:1901333 PMID:7854095 PMID:3104456 PMID:27999013
RGD:8158041 , RGD:40890273
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
G
IL10
interleukin 10
EXP IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15716043 PMID:17404324 PMID:22461696 PMID:29745990
RGD:14975172
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
G
IL10RA
interleukin 10 receptor subunit alpha
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:15716043
NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037
G
IL18
interleukin 18
susceptibility
ISO
RGD
PMID:16879623
RGD:8655922
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096
G
IL1B
interleukin 1 beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17404324
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
G
IL27
interleukin 27
ISO
mRNA, protein:increased expression:spleen, liver (mouse)
RGD
PMID:27245409
RGD:126790520
NCBI chr16:28,499,362...28,506,834
Ensembl chr16:28,499,362...28,512,051
G
IL2RB
interleukin 2 receptor subunit beta
susceptibility
IAGP
DNA:polymorphisms:exon:8777, 8838(human)
RGD
PMID:17108990
RGD:42724466
NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118
G
IL32
interleukin 32
ameliorates
IMP
human gene in a mouse model
RGD
PMID:29483288
RGD:150340719
NCBI chr16:3,065,403...3,069,530
Ensembl chr16:3,065,297...3,082,192
G
IL6
interleukin 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:7554475 PMID:17404324 PMID:22461696
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
G
IRF5
interferon regulatory factor 5
ISO
protein:increased expression:CD4 T cell, nucleus
RGD
PMID:32038622 PMID:30067973
RGD:40924560 , RGD:40924629
NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
G
LTA
lymphotoxin alpha
severity
IAGP ISO
DNA:polymorphisms
RGD
PMID:12438370 PMID:15579454
RGD:8548784 , RGD:8548789
NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
G
LTB
lymphotoxin beta
ISO
RGD
PMID:12115620
RGD:8548822
NCBI chr 6:31,580,558...31,582,425
Ensembl chr 6:31,580,525...31,582,522
G
MBL2
mannose binding lectin 2
disease_progression susceptibility
IEP IAGP
DNA:polymorphism:promoter: DNA:SNPs,haplotype:promoter,exon: protein:increased expression:serum:
RGD
PMID:17357060 PMID:17357060 PMID:22995279 PMID:26297290 PMID:26297290
RGD:8693721 , RGD:8693721 , RGD:8693726 , RGD:11522692 , RGD:11522692
NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784
G
MIR155
microRNA 155
ISO
RGD
PMID:31182615
RGD:21081525
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
G
MIR21
microRNA 21
treatment
ISO
RGD
PMID:31608064
RGD:40925951
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
G
NFE2L2
NFE2 like bZIP transcription factor 2
treatment
IEP
RGD
PMID:23729024
RGD:42724459
NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
G
PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
treatment
ISO
RGD
PMID:27999013
RGD:40890273
NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
G
SLC11A1
solute carrier family 11 member 1
IAGP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16597321 PMID:17067929
RGD:5684944
NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
G
STAT4
signal transducer and activator of transcription 4
ISO
RGD
PMID:24242758
RGD:8661696
NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435
G
TLR2
toll like receptor 2
disease_progression
ISO
RGD
PMID:23589575
RGD:15090808
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
G
TNF
tumor necrosis factor
severity
IAGP EXP ISO
DNA:polymorphisms CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:1901333 PMID:22461696 PMID:12438370 PMID:15579454
RGD:8548784 , RGD:8548789
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
G
CXCR4
C-X-C motif chemokine receptor 4
IAGP ISS EXP
DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human) ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1 OMIM:193670 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 PMID:17803866 PMID:18436740 PMID:19043667 PMID:19476565 PMID:19956569 PMID:20472031 PMID:20736454 PMID:21070597 PMID:22748845 PMID:23009155 PMID:23734232 PMID:23794067 PMID:25571909 PMID:25662009 PMID:25741868 PMID:28353164 PMID:28492532 PMID:29659363 PMID:30819232 PMID:31313072 PMID:31493092 PMID:32784523 PMID:35947323 PMID:36089616 PMID:12692554 More...
RGD:734860
NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all