viral infectious disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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:	viral infectious disease	go back to main search page
Accession:	DOID:934	browse the term
Definition:	A disease by infectious agent that results in infection, has_material_basis_in Viruses. (DO)
Synonyms:	exact_synonym:	Viral Disease; Viral Infection; Viral Infectious Diseases; Virus Disease; Virus Diseases; viral diseases; viral infections; virus infection; virus infections
	primary_id:	MESH:D014777
	xref:	EFO:0000763; EFO:1001269; ICD10CM:A94; ICD10CM:B34.9; ICD9CM:060-066.99; NCI:C3439; NCI:C34396
	subset:	RGD_JBrowse_slim

show annotations for term's descendants Sort by:
Rat (1716) Mouse (1726) Human (11477) Chinchilla (1503) Bonobo (1651) Dog (1660) Squirrel (1537) Pig (1643) Green Monkey (1606) Naked Mole-rat (1482) All
Genes (1697) QTL (5) Strains (14)

viral infectious disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 7

Various respiratory viruses

RGD

NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303

G

CD27 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 4:158,030,700...158,035,862
Ensembl chr 4:158,030,703...158,035,592

G

CD46 molecule

protein:increased expression:monocyte (human)

RGD

NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445

G

Cd70 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 9:2,006,563...2,009,715
Ensembl chr 9:2,006,563...2,009,715

G

CCAAT/enhancer binding protein beta

NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473

G

dedicator of cytokinesis 8

susceptibility

DNA:mutations: :

RGD

NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474

G

interferon alpha and beta receptor subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979

G

interleukin 15

associated with Pulmonary Disease, Chronic Obstructive

RGD

NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820

G

2'-5' oligoadenylate synthetase 1A

CTD Direct Evidence: marker/mechanism

NCBI chr12:35,669,798...35,680,505
Ensembl chr12:35,669,801...35,680,517

G

TNF receptor superfamily member 4

CTD Direct Evidence: marker/mechanism

NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599

G

TNF receptor superfamily member 8

CTD Direct Evidence: marker/mechanism

PMID:9826579 PMID:12031769

NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421

G

TNF receptor superfamily member 9

CTD Direct Evidence: marker/mechanism

NCBI chr 5:161,381,662...161,408,003
Ensembl chr 5:161,381,662...161,408,000

G

TNF superfamily member 4

CTD Direct Evidence: marker/mechanism

NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421

G

TNF superfamily member 9

CTD Direct Evidence: marker/mechanism

NCBI chr 9:1,944,017...1,946,351
Ensembl chr 9:1,944,017...1,946,345

acquired immunodeficiency syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1A

treatment

DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human)
DNA:SNP: : rs10276036(human)

RGD

PMID:23372834 PMID:24517233

RGD:39456119, RGD:11098698

NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709

G

Rho GTPase activating protein 44

disease_progression

DNA:SNPs, haplotype:intron, exon: (rs2072255, rs2072254) (human)
DNA:SNP:intron: (rs2072255) (human)

RGD

PMID:28069446 PMID:21107268

RGD:401901288, RGD:401901289

NCBI chr10:49,655,583...49,822,876
Ensembl chr10:49,655,584...49,824,297

G

bone marrow stromal cell antigen 2

DNA:SNPs: :

RGD

NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979

G

C-C motif chemokine ligand 4

DNA:SNP:3' utr:rs1719153 (human)

RGD

NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231

G

C-C motif chemokine receptor 5

ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, delayed progression to

PMID:9742978 PMID:12610055 PMID:12815099

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

G

CD209d molecule

disease_progression

associated with factor VIII deficiency; DNA:SNP:promoter: g.-139C>T (rs2287886) (human)

RGD

NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171

G

Cd4 molecule

associated with drug dependence; protein:increased expression:temporal lobe (human)

RGD

NCBI chr 4:157,668,878...157,695,366
Ensembl chr 4:157,668,878...157,695,191

G

CD40 ligand

treatment

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

Cd68 molecule

associated with drug dependence; protein:increased expression:temporal lobe (human)

RGD

NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697

G

CD8 subunit alpha

associated with drug dependence; protein:increased expression:temporal lobe (human)

NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040

G

ERCC excision repair 2, TFIIH core complex helicase subunit

susceptibility

DNA:polymorphism:exon:p.K751Q(human)

RGD

NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102

G

indoleamine 2,3-dioxygenase 1

associated with pulmonary tuberculosis;protein:increased expression:blood (human)

RGD

NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730

G

interferon, alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925

G

interferon gamma

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acquired immunodeficiency syndrome, rapid progression to

PMID:9612607 PMID:12854077

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

insulin-like growth factor 2

protein:decreased expression:plasma

RGD

NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018

G

interleukin 2

CTD Direct Evidence: therapeutic

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1

severity

DNA:missense mutation:cds: p.I47V (rs643347) (human)

RGD

NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050

G

natural cytotoxicity triggering receptor 1

protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human)

RGD

NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558

G

natural cytotoxicity triggering receptor 3

protein:decreased expression:peripheral blood mononuclear cell,natural killer cell (human)

RGD

NCBI chr20:3,637,242...3,643,748
Ensembl chr20:3,638,240...3,643,799

G

RT1 class I, locus CE15

susceptibility

DNA:polymorphism: :HLA-A31

RGD

NCBI chr20:3,275,575...3,279,074
Ensembl chr20:3,264,172...3,279,563
Ensembl chr20:3,264,172...3,279,563

G

RT1 class I, locus CE16

susceptibility

DNA:polymorphism: :HLA-A31

NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563

G

tumor necrosis factor

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 1A

RGD

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

G

TNF receptor superfamily member 1B

RGD

NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206

G

vitamin D receptor

GAD

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

acute disseminated encephalomyelitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon gamma

disease_progression

protein:increased expression:T cell:

RGD

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

neurofilament light chain

disease_progression

protein:increased expresssion:serum (human)

RGD

NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphism (human)
DNA:polymorphism, haplotype: :

RGD

PMID:19722042 PMID:22786832

RGD:5147662, RGD:36049763

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphisms (human)
DNA:polymorphism, haplotype: :

RGD

PMID:19722042 PMID:22786832

RGD:5147662, RGD:36049763

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

Adenoviridae Infections

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase

susceptibility

DNA:polymorphism:cds:allele AB (human)

RGD

NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423

G

Bruton tyrosine kinase

susceptibility

RGD

NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853

G

killer cell lectin like receptor K1

RGD

NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459

G

NFKB inhibitor alpha

ameliorates

human gene in a mouse model, associated with Animal Viral Hepatitis

RGD

NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941

adult T-cell leukemia/lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat-containing 5

CTD Direct Evidence: marker/mechanism

NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380

G

bone morphogenetic protein 6

CTD Direct Evidence: marker/mechanism

NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365

G

caspase recruitment domain family, member 11

CTD Direct Evidence: marker/mechanism

NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112

G

C-C motif chemokine receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056

G

C-C motif chemokine receptor 7

CTD Direct Evidence: marker/mechanism

NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309

G

CD163 molecule

disease_progression

protein:increased expression:lymph node tumor (human)

RGD

NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878

G

CD274 molecule

disease_progression

RGD

NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450

G

Cd28 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685

G

Cd68 molecule

disease_progression

protein:increased expression:lymph node tumor (human)

RGD

NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697

G

Cd80 molecule

RGD

NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030

G

CD86 molecule

RGD

NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818

G

casein kinase 1, alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:55,017,049...55,050,184
Ensembl chr18:55,017,055...55,049,271

G

casein kinase 2 alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696

G

casein kinase 2 beta

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133

G

cytotoxic T-lymphocyte-associated protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

Fas cell surface death receptor

susceptibility

DNA:polymorphism:promoter: -670 G>A(human)
protein:increased expression:peripheral blood mononuclear cell:

RGD

PMID:17962369 PMID:7513372

RGD:11049147, RGD:11049453

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

forkhead box P3

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23962110 PMID:23797717

NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838

G

FYN proto-oncogene, Src family tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr20:42,767,733...42,960,903
Ensembl chr20:42,766,369...42,959,911

G

GATA binding protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391

G

G protein-coupled receptor 183

CTD Direct Evidence: marker/mechanism

NCBI chr15:99,037,764...99,050,550
Ensembl chr15:99,036,367...99,050,559

G

heterogeneous nuclear ribonucleoprotein A2/B1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249

G

inducible T-cell co-stimulator

CTD Direct Evidence: marker/mechanism

NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672

G

interferon, alpha 1

CTD Direct Evidence: therapeutic

NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925

G

interferon gamma

treatment

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23962110 PMID:8800741

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

IKAROS family zinc finger 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:71,046,038...71,191,296
Ensembl chr 9:71,042,440...71,190,867

G

interleukin 10

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23962110 PMID:8704212

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 4

CTD Direct Evidence: marker/mechanism

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

interleukin 5

disease_progression

protein:increased expression:serum

RGD

NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213

G

interleukin 6

protein:increased expression:serum (human)

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

interferon regulatory factor 4

CTD Direct Evidence: marker/mechanism

NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070

G

Janus kinase 3

DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human)

RGD

NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536

G

MYB proto-oncogene, transcription factor

disease_progression

mRNA:splice variants:CD4+ T cell:

RGD

NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057

G

notch receptor 1

DNA:mutations:multiple (human)

RGD

NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531

G

NRAS proto-oncogene, GTPase

disease_progression

RGD

NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626

G

phospholipase C, gamma 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330

G

protein kinase C, beta

CTD Direct Evidence: marker/mechanism

NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

TAL bHLH transcription factor 2

RGD

NCBI chr 5:68,411,012...68,417,569
Ensembl chr 5:68,411,012...68,417,569

G

telomeric repeat binding factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:34,976,963...35,005,813
Ensembl chr19:34,977,471...35,005,819

G

T-cell leukemia, homeobox 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:1717256 PMID:1683261

NCBI chr 1:244,005,057...244,011,318
Ensembl chr 1:244,005,057...244,011,318

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421

G

tumor protein p53

GAD

NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524

G

tumor protein p73

CTD Direct Evidence: marker/mechanism

NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128

G

vav guanine nucleotide exchange factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:2,161,985...2,209,951
Ensembl chr 9:2,157,900...2,208,937

AIDS Dementia Complex

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenoceptor beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512

G

erythropoietin

treatment

RGD

NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

G

GC, vitamin D binding protein

associated with HIV Infections;protein:increased expression:cerebrospinal fluid:

RGD

NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567

G

interleukin 1 beta

protein:increased expression:neocortex

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

insulin receptor

severity

protein:increased expression:cerebrospinal fluid, plasma

RGD

NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883

G

insulin receptor substrate 1

severity

protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte

RGD

NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122

G

neurofilament light chain

associated with HIV Seropositivity;protein:increased expression:plasma, CSF (human)
protein:increased expression:CSF (human)

RGD

PMID:30105502 PMID:27400930

RGD:127284876, RGD:127284885

NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793

G

neuropeptide Y

severity

protein:increased expression:cerebrospinal fluid

RGD

NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495

G

opioid receptor, mu 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409

G

platelet derived growth factor subunit B

RGD

NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984

G

solute carrier family 6 member 4

RGD

NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384

AIDS-Associated Nephropathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin II receptor, type 1a

RGD

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

angiotensin II receptor, type 2

RGD

NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057

G

epidermal growth factor

RGD

NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064

G

haptoglobin

protein:increased expression:urine

RGD

NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523

G

mechanistic target of rapamycin kinase

RGD

PMID:23678040 PMID:23678040

RGD:7245474, RGD:7245474

NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311

G

myosin, heavy chain 9

protein:decreased expression:glomerulus

RGD

NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457

G

notch receptor 4

protein: increased expression: kidney

RGD

NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465

G

NPHS1 adhesion molecule, nephrin

treatment

RGD

PMID:19188342 PMID:17229913

RGD:38596324, RGD:38599164

NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078

AIDS-Related Complex

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

killer cell lectin like receptor K1

treatment

RGD

NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459

AIDS-Related Kaposi Sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2, apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743

AIDS-Related Opportunistic Infections

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Cd4 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 4:157,668,878...157,695,366
Ensembl chr 4:157,668,878...157,695,191

G

TNF receptor superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421

allergic bronchopulmonary aspergillosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 17

associated with Cystic Fibrosis

RGD

NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819

G

C-C motif chemokine receptor 1

RGD

NCBI chr 8:123,556,286...123,561,841

G

C-C motif chemokine receptor 2

RGD

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

CF transmembrane conductance regulator

DNA:mutations: :

RGD

NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756

G

intercellular adhesion molecule 1

RGD

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

interleukin 1 alpha

RGD

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

mannose binding lectin 2

susceptibility

Chronic Necrotizing Pulmonary Aspergillosis; DNA:missense mutation:exon:p.R52C (human)
DNA:SNP:intron:1011G>A(human)

RGD

PMID:11474427 PMID:16487239

RGD:4889577, RGD:8693711

NCBI chr 1:228,016,439...228,024,736

G

RT1 class II, locus Bb

susceptibility

associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human)

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

susceptibility

associated with cystic fibrosis; DNA:polymorphisms: :

RGD

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

toll-like receptor 9

susceptibility

DNA:SNP:promoter:g.-1237T>C rs5743836 (human)

RGD

PMID:18275280 PMID:18936185

RGD:5130863, RGD:5130858

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

G

tumor necrosis factor

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 1A

susceptibility

DNA:snps:5' utr, exon:g.-609G>T rs4149570, g.36A>G rs767455 (human)

RGD

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

recombination activating 1

ClinVar Annotator: match by term: Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:2682973 PMID:2808362 PMID:8810255 PMID:9630231 PMID:10606976 More...

NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291

Alphavirus Infections

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activation-induced cytidine deaminase

severity

RGD

NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972

Animal Viral Hepatitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD40 molecule

severity

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

ribonuclease L

disease_progression

associated with Coronaviridae Infections
associated with Middle East respiratory syndrome

RGD

PMID:28003490 PMID:27025250

RGD:40902624, RGD:40902807

NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704

anogenital venereal wart

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 20

protein:decreased expression:skin

RGD

NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629

G

CD8 subunit alpha

mRNA:decreased expression:zone of skin (human)

NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040

G

cytotoxic T-lymphocyte-associated protein 4

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

forkhead box P3

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838

G

interferon, alpha 1

treatment

RGD

NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925

G

interleukin 10

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 12B

treatment

protein:decreased expression:peripheral blood mononuclear cells (human)

RGD

PMID:16114559 PMID:23754510

RGD:7829774, RGD:40400714

NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903

G

interleukin 2

protein:decreased expression:peripheral blood mononuclear cells (human)

RGD

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 21

protein:decreased expression:blood serum (human)

RGD

NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996

G

interleukin 4

treatment

protein:increased expression:peripheral blood mononuclear cells (human)

RGD

PMID:16114559 PMID:23754510

RGD:7829774, RGD:40400714

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

interleukin 6

protein:decreased expression:peripheral blood mononuclear cells (human)

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

killer cell lectin like receptor K1

mRNA,protein:decreased expression:multiple (human)

RGD

NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459

G

mitogen-activated protein kinase 8

treatment

mRNA:increased expression:zone of skin (human)

NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981

G

MYD88, innate immune signal transduction adaptor

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415

G

natural cytotoxicity triggering receptor 1

mRNA,protein:decreased expression:multiple (human)

RGD

NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558

G

programmed cell death 1

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937

G

protein tyrosine phosphatase, non-receptor type 11

protein:increased expression:foreskin

RGD

NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925

G

protein tyrosine phosphatase, non-receptor type 6

protein:increased expression:foreskin

RGD

NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984

G

serpin family F member 1

disease_progression

mRNA, protein:decreased expression:skin of body (human)

RGD

NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646

G

transforming growth factor, beta 1

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

toll-like receptor 2

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

toll-like receptor 3

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545

G

toll-like receptor 4

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

toll-like receptor 7

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754

G

toll-like receptor 8

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr X:27,091,780...27,116,092
Ensembl chr X:27,091,778...27,116,549

G

toll-like receptor 9

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

G

tumor necrosis factor

protein:increased expression:peripheral blood mononuclear cells (human)

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 18

mRNA,protein:increased expression:multiple (human)

RGD

NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353

Arenaviridae infectious disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

RGD

NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437

G

CD1d1 molecule

RGD

NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089

G

interleukin 21

RGD

NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996

G

interleukin 27

mRNA, protein:increased expression:spleen (mouse)

RGD

NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582

G

mitogen-activated protein kinase 8

RGD

NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981

G

signal transducer and activator of transcription 2

ameliorates

RGD

NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967

G

transferrin receptor

CTD Direct Evidence: therapeutic

NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257

aseptic meningitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

CTD Direct Evidence: marker/mechanism

PMID:5108595 PMID:5109917 PMID:5536438

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

aspergillosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

advanced glycosylation end product-specific receptor

DNA:SNP:promoter:-374T>A (human)

RGD

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

C-C motif chemokine ligand 19

associated with Neutropenia;mRNA:increased expression:lung

RGD

NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308

G

C-C motif chemokine receptor 7

associated with Neutropenia

RGD

NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309

G

CD209d molecule

RGD

NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171

G

CF transmembrane conductance regulator

severity

RGD

NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756

G

C-type lectin domain family 1, member A

susceptibility

ClinVar Annotator: match by term: Aspergillosis, susceptibility to
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:25741868 PMID:29489751

NCBI chr 4:162,875,360...162,902,571
Ensembl chr 4:162,877,346...162,901,247

G

C-type lectin domain containing 7A

susceptibility

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 chr 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897

G

C-reactive protein

treatment

RGD

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

interleukin 15

DNA:polymorphism (human)

RGD

NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820

G

mannose binding lectin 1

susceptibility

RGD

NCBI chr16:17,029,146...17,035,187
Ensembl chr16:17,029,118...17,035,174

G

mannose binding lectin 2

susceptibility

RGD

NCBI chr 1:228,016,439...228,024,736

G

S100 calcium binding protein B

DNA:SNP: :427C>T (human)

RGD

NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743

G

toll-like receptor 1

susceptibility

DNA:SNPs: :p.R80T, p.N248S (human)

RGD

NCBI chr14:43,384,127...43,396,765
Ensembl chr14:43,384,932...43,397,125

G

toll-like receptor 2

mRNA:increased expression:lung

RGD

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

toll-like receptor 6

susceptibility

DNA:SNP: :p.S249P (human)

RGD

NCBI chr14:43,362,164...43,374,500
Ensembl chr14:43,362,164...43,375,685

Autoinflammatory Disease, Familial, Behcet-Like-3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RELA proto-oncogene, NF-kB subunit

ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic | ClinVar Annotator: match by term: RELA-related condition

PMID:25741868 PMID:28492532 PMID:28600438 PMID:29758562 PMID:32969189 More...

NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484

G

signal-induced proliferation-associated 1

ClinVar Annotator: match by term: Mucocutaneous ulceration, chronic

PMID:25741868 PMID:28492532 PMID:28600438 PMID:36926348

NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591

avian influenza

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin converting enzyme 2

severity
treatment

human protein in a mouse model

RGD

PMID:24800825 PMID:24800825

RGD:32716391, RGD:32716391

NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977

G

MX dynamin like GTPase 1

susceptibility

CTD Direct Evidence: therapeutic
human gene in a mouse model

CTD
RGD

PMID:178595 PMID:28396461

NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507

G

prostaglandin-endoperoxide synthase 2

RGD

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

receptor-interacting serine-threonine kinase 3

ameliorates

RGD

NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121

Avian Sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ras homolog family member B

RGD

NCBI chr 6:31,363,752...31,365,926
Ensembl chr 6:31,363,548...31,366,108

babesiosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

platelet and endothelial cell adhesion molecule 1

protein:decreased expression:serum (human)

RGD

NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116

Bell's palsy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

peptidylprolyl isomerase A

exacerbates

protein:increased expression:blood serum (human)

RGD

NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601

borna disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldolase, fructose-bisphosphate C

mRNA, protein:decreased expression:cerebellum, Purkinje cell

RGD

NCBI chr10:63,217,477...63,221,066
Ensembl chr10:63,217,451...63,221,066

G

activating transcription factor 4

protein:increased expression:cerebellum

RGD

NCBI chr 7:111,804,135...111,806,457
Ensembl chr 7:111,804,183...111,806,446

G

activating transcription factor 6

protein:increased expression:cerebellum, hippocampus

RGD

NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177

G

brain-derived neurotrophic factor

mRNA:decreased expression:hippocampus

RGD

NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615

G

CD44 molecule

RGD

NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620

G

C-X3-C motif chemokine ligand 1

RGD

NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833

G

C-X3-C motif chemokine receptor 1

mRNA:increased expression:brain

RGD

NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014

G

DNA-damage inducible transcript 3

mRNA,protein:increased expression:cerebellum, hippocampus

RGD

NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201

G

eukaryotic translation initiation factor 2A

protein:increased expression:cerebellum,hippocampus

RGD

NCBI chr 2:142,761,303...142,794,767
Ensembl chr 2:142,761,416...142,795,068

G

gap junction protein, alpha 1

RGD

NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582

G

gap junction protein, beta 6

RGD

NCBI chr15:31,284,561...31,294,552
Ensembl chr15:31,284,419...31,294,582

G

insulin-like growth factor 1

mRNA:increased expression:hippocampus

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

interleukin 16

protein:increased expression:brain

RGD

NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130

G

macrophage migration inhibitory factor

protein:increased expression:astrocyte

RGD

NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
Ensembl chr 4:12,790,902...12,799,504

G

metallothionein 3

RGD

NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158

G

nerve growth factor

mRNA:decreased expression:hippocampus

RGD

NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452

G

neurotrophin 3

mRNA:decreased expression:hippocampus

RGD

NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596

G

neurotrophic receptor tyrosine kinase 2

mRNA:decreased expression:cerebellum,hippocampus

RGD

NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136

G

neurotrophic receptor tyrosine kinase 3

mRNA:decreased expression:cerebellum,hippocampus

RGD

NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286

G

poly (ADP-ribose) glycohydrolase

mRNA:decreased expression:hippocampus

RGD

NCBI chr16:7,436,429...7,544,276
Ensembl chr16:7,436,476...7,544,273

G

poly (ADP-ribose) polymerase 1

mRNA,protein:increased expression,increased activity:neuron, glial cell:

RGD

NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404

G

S100 calcium binding protein B

protein:decreased expression:cerebellum, cerebral cortex

RGD

NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743

G

solute carrier family 6 member 4

protein:increased expression:brain (rat)

RGD

NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384

G

X-box binding protein 1

mRNA,protein:altered expression:cerebellum,hippocampus

RGD

NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693

boutonneuse fever

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C3

protein:increased expression:serum

RGD

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

complement factor B

protein:increased expression:serum

RGD

NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505

G

C-X-C motif chemokine ligand 10

RGD

NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975

G

C-X-C motif chemokine ligand 9

RGD

NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435

bowenoid papulosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat-containing 2

mRNA:increased expression:perianal skin (human)

RGD

NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732

G

baculoviral IAP repeat-containing 3

mRNA:increased expression:perianal skin (human)

RGD

NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802

Bunyaviridae Infections

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

signal transducer and activator of transcription 2

exacerbates

RGD

NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967

Burkitt lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha 1,4-galactosyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564

G

Bcl-2 binding component 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:77,013,281...77,022,509
Ensembl chr 1:77,014,543...77,022,509

G

Bcl2-like 2

mRNA:increased expression:lymph node

RGD

NCBI chr15:28,346,449...28,361,627
Ensembl chr15:28,356,807...28,361,624

G

BRCA1, DNA repair associated

ClinVar Annotator: match by term: Burkitt lymphoma

PMID:17262179 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31911673 More...

NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304

G

Bruton tyrosine kinase

ameliorates
treatment

Human cell line in a mouse model
mRNA:increased expression:multiple (human)

PMID:28474336 PMID:30546948

RGD:124713565, RGD:124715474

NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853

G

calreticulin

treatment

human cells and recombinant protein in a mouse model
human cell line and recombinant protein in a mouse model

RGD

PMID:9858521 PMID:10961892

RGD:150521687, RGD:150521702

NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414

G

chaperonin containing TCP1 subunit 6B

CTD Direct Evidence: marker/mechanism

NCBI chr10:67,652,461...67,701,385
Ensembl chr10:67,652,546...67,701,284

G

CD40 molecule

treatment

human cell line in a mouse model

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

CD79b molecule

treatment

human cells in mouse model

RGD

NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625

G

formimidoyltransferase cyclodeaminase

CTD Direct Evidence: marker/mechanism

NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735

G

G protein subunit alpha 13

CTD Direct Evidence: marker/mechanism

NCBI chr10:94,337,939...94,370,774
Ensembl chr10:94,337,725...94,370,774

G

inhibitor of DNA binding 3

CTD Direct Evidence: marker/mechanism

PMID:23143595 PMID:23143597

NCBI chr 5:148,372,784...148,374,353
Ensembl chr 5:148,372,762...148,374,349

G

microRNA 21

treatment

RGD

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

G

microRNA 23b

treatment

RGD

NCBI chr17:1,813,667...1,813,763
Ensembl chr17:1,813,667...1,813,763

G

MLLT11, transcription factor 7 cofactor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:182,795,790...182,804,960
Ensembl chr 2:182,795,790...182,797,199

G

MYC proto-oncogene, bHLH transcription factor

OMIM:113970
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Burkitt lymphoma
DNA:mutations:exons:multiple (human)

MouseDO
CTD
ClinVar
OMIM
RGD

PMID:8220424 PMID:25157968 PMID:27993330 PMID:8220424 PMID:8397370

RGD:1601453, RGD:10059619

NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630

G

PBX homeobox 1

CTD Direct Evidence: marker/mechanism

PMID:1967982 PMID:17244677

NCBI chr13:80,278,766...80,588,563
Ensembl chr13:80,278,770...80,588,594

G

pyruvate carboxylase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380

G

phosphoinositide-3-kinase regulatory subunit 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631

G

ret proto-oncogene

CTD Direct Evidence: marker/mechanism

NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176

G

spalt-like transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975

G

transcription factor 3

CTD Direct Evidence: marker/mechanism

PMID:1967982 PMID:17244677

NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314

Caliciviridae Infections

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fucosyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:96,119,549...96,139,567
Ensembl chr 1:96,119,371...96,140,360

Candidemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD1d1 molecule

ameliorates

associated with endotoxemia

RGD

NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089

G

Eph receptor B2

exacerbates

RGD

NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059

candidiasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

autoimmune regulator

CTD Direct Evidence: marker/mechanism

NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060

G

cholinergic receptor, muscarinic 2

RGD

NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103

G

interleukin 33

treatment

RGD

NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373

G

lactotransferrin

RGD

NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795

G

mitogen-activated protein kinase 8

ameliorates

RGD

NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981

G

natural cytotoxicity triggering receptor 1

disease_progression

RGD

NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558

G

receptor-interacting serine-threonine kinase 3

exacerbates

RGD

NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121

Candidiasis, Familial, 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-type lectin domain containing 7A

susceptibility

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 chr 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897

Candidiasis, Familial, 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 17F

ClinVar Annotator: match by term: Candidiasis, familial, 6

PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 More...

NCBI chr 9:23,190,094...23,201,482
Ensembl chr 9:23,190,100...23,201,482

Candidiasis, Familial, 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Traf3 interacting protein 2

susceptibility

ClinVar Annotator: match by term: Candidiasis, familial, 8

PMID:9536098 PMID:16199547 PMID:17576681 PMID:20953186 PMID:20953188 More...

NCBI chr20:43,011,405...43,054,654
Ensembl chr20:43,011,450...43,054,667

Candidiasis, Familial, 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRICK1 subunit of SCAR/WAVE actin nucleating complex

ClinVar Annotator: match by term: Candidiasis, familial, 9

NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856

G

cell death-inducing DFFA-like effector c

ClinVar Annotator: match by term: Candidiasis, familial, 9

NCBI chr 4:146,569,288...146,582,173
Ensembl chr 4:146,569,289...146,582,173

G

cysteine-rich with EGF-like domains 1

ClinVar Annotator: match by term: Candidiasis, familial, 9

PMID:25741868 PMID:28492532

NCBI chr 4:146,631,883...146,641,493
Ensembl chr 4:146,631,883...146,641,499

G

ER membrane protein complex subunit 3

ClinVar Annotator: match by term: Candidiasis, familial, 9

NCBI chr 4:146,663,065...146,678,976
Ensembl chr 4:146,663,067...146,679,029

G

FA complementation group D2

ClinVar Annotator: match by term: Candidiasis, familial, 9

NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412

G

FANCD2 opposite strand

ClinVar Annotator: match by term: Candidiasis, familial, 9

NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569

G

interleukin 17 receptor C

ClinVar Annotator: match by term: Candidiasis, familial, 9 | ClinVar Annotator: match by term: IL17RC-related condition

PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25918342 More...

NCBI chr 4:146,618,321...146,631,444
Ensembl chr 4:146,619,004...146,631,442

G

interleukin 17 receptor E

ClinVar Annotator: match by term: Candidiasis, familial, 9

NCBI chr 4:146,604,547...146,618,206
Ensembl chr 4:146,605,526...146,618,206

G

jagunal homolog 1

ClinVar Annotator: match by term: Candidiasis, familial, 9

NCBI chr 4:146,591,577...146,596,287
Ensembl chr 4:146,591,510...146,596,288

G

proline-rich transmembrane protein 3

ClinVar Annotator: match by term: Candidiasis, familial, 9

NCBI chr 4:146,641,173...146,650,487
Ensembl chr 4:146,641,173...146,650,317

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Candidiasis, familial, 9

NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377

Cardiovirus Infections

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin converting enzyme 2

encephalomyocarditis virus;mRNA, protein:decreased expression, increased expression:heart (mouse)

RGD

NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977

G

eukaryotic translation initiation factor 2-alpha kinase 2

RGD

NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971

G

interferon alpha and beta receptor subunit 1

susceptibility

RGD

PMID:27999109 PMID:27999109

RGD:12910492, RGD:12910492

NCBI chr11:30,725,774...30,752,227
Ensembl chr11:30,725,790...30,749,979

G

interferon alpha and beta receptor subunit 1; CRISPR/Cas9 induced mutant 1

RGD

G

interferon alpha and beta receptor subunit 1; CRISPR/Cas9 induced mutant 2

RGD

G

interleukin 33

mRNA:increased expression:brain:

RGD

NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373

G

phosphodiesterase 12

CTD Direct Evidence: marker/mechanism

NCBI chr16:1,920,062...1,925,638
Ensembl chr16:1,915,386...1,925,887

G

ribonuclease L

RGD

NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

Central Nervous System Viral Diseases

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glutamate ionotropic receptor AMPA type subunit 1

mRNA:increased expression:hippocampus (rat)

RGD

NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283

G

glutamate ionotropic receptor NMDA type subunit 2A

mRNA:increased expression:hippocampus (rat)

RGD

NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637

G

plasminogen activator, tissue type

protein:increased expression:cerebellum (rat)

RGD

NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223

chikungunya

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone marrow stromal cell antigen 2

RGD

NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphism:cds: HLA-DQB1*03:03 (human)

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

chlamydia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine receptor 5

RGD

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

G

CD40 molecule

RGD

NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534

G

forkhead box P3

treatment

RGD

NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838

G

intercellular adhesion molecule 1

mRNA:increased expression:lung (mouse)

RGD

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

indoleamine 2,3-dioxygenase 1

treatment

mRNA:increased expression:lung (mouse)

RGD

PMID:30832593 PMID:31249813

RGD:38455984, RGD:39938856

NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730

G

interferon gamma

CTD Direct Evidence: marker/mechanism

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

interleukin 13

RGD

NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737

G

interleukin 17A

associated with Bronchial Hyprractivity; mRNA:increased expression:lung

RGD

PMID:20228193 PMID:19812198

RGD:4888528, RGD:4889101

NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889

G

microRNA 21

associated with asthma;RNA:increased expression:lung

RGD

NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348

G

transforming growth factor, beta 1

treatment

RGD

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

Chlamydia pneumonia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD274 molecule

mRNA:increased expression:lung

RGD

NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450

G

programmed cell death 1

mRNA:increased expression:lung

RGD

NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937

G

phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta

severity

RGD

NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930

chronic fatigue syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 24

protein:increased expression:plasma:

RGD

NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893

G

Cd28 molecule

RGD

NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685

G

C-X3-C motif chemokine ligand 1

protein:decreased expression:plasma:

RGD

NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833

G

C-X-C motif chemokine ligand 9

protein:decreased expression:plasma:

RGD

NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435

G

DISC1 scaffold protein

susceptibility

DNA:SNP:Cds:p.S704C(human)

RGD

NCBI chr19:53,014,201...53,223,617
Ensembl chr19:53,014,616...53,219,778

G

interleukin 16

protein:decreased expression:plasma:

RGD

NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130

G

perforin 1

RGD

NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701

G

renin

associated with Postural Orthostatic Tachycardia Syndrome; protein:increased activity:plasma (human)

RGD

NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489

G

RT1 class II, locus Ba

susceptibility

DNA:polymorphism (human)
DNA:polymorphism: :HLA-DQA1*01 (human)

RGD

PMID:16049290 PMID:16049290

RGD:5147827, RGD:5147827

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

G

serpin family F member 1

protein:increased expression:cerebrospinal fluid (human)

RGD

NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646

G

solute carrier family 6 member 4

severity

DNA:repeats:promoter:
protein:decreased expression:rostral anterior cingulate cortex (human)
DNA:repeats, haplotype:promoter:

RGD

PMID:14592408 PMID:15570154 PMID:26473596

RGD:36947383, RGD:38500210, RGD:11098915

NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384

G

transient receptor potential cation channel, subfamily C, member 6

DNA:SNPs: :

RGD

NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092

G

vascular endothelial growth factor A

protein:decreased expression:plasma:

RGD

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

Chronic Hepatitis B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase, RNA-specific

treatment

DNA:SNP:enhancer: (rs4845384) (human)

RGD

NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282

G

apolipoprotein A1

protein:decreased expression
protein:decreased expression:plasma (human)
mRNA, protein:decreased expression:liver, serum (human)

RGD

PMID:21726101 PMID:25115832 PMID:27015844

RGD:5508214, RGD:25671433, RGD:25671432

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

apolipoprotein E

susceptibility

DNA:missense mutations:cds:p.C112R, p.R158C (human)

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

baculoviral IAP repeat-containing 3

ameliorates

RGD

NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802

G

complement C2

susceptibility

DNA:SNP:exon: p.Glu318Asp (human)

RGD

NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505

G

C-C motif chemokine ligand 2

protein:decreased expression:serum:

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 5

severity

RGD

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734

G

CD163 molecule

protein:increased expression:blood serum (human)

RGD

NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878

G

CD1d1 molecule

associated with hepatocellular carcinoma;mRNA:increased expression:liver (human)

RGD

NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089

G

CD274 molecule

treatment

protein:increased expression:regulatory T cell

RGD

PMID:26266813 PMID:20460044

RGD:11344683, RGD:41412166

NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450

G

cell migration inducing hyaluronidase 2

susceptibility

DNA:SNP:exon: p.Ser1254Asn (human)

RGD

NCBI chr 1:219,330,295...219,407,760
Ensembl chr 1:219,337,985...219,407,760

G

cytotoxic T-lymphocyte-associated protein 4

susceptibility

DNA:SNP: :-318C>T(human)

RGD

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

C-X-C motif chemokine ligand 10

treatment

mRNA,protein:increased expression: peripheral blood mononuclear cell,serum, sinusoidal endothelium

RGD

PMID:30660173 PMID:18234638

RGD:27095888, RGD:27095951

NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975

G

eukaryotic translation initiation factor 2 alpha kinase 3

RGD

NCBI chr 4:102,805,495...102,866,914
Ensembl chr 4:102,805,510...102,866,911

G

forkhead box P3

mRNA,protein:increased expression:peripheral blood mononuclear cell, liver:

RGD

PMID:18673437 PMID:21489307

RGD:38548921, RGD:38549358

NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838

G

glutamic--pyruvic transaminase

treatment
disease_progression

RGD

PMID:29279233 PMID:28007350

RGD:14975159, RGD:14975240

NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494

G

haptoglobin

CTD Direct Evidence: marker/mechanism

NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523

G

indoleamine 2,3-dioxygenase 1

protein:increased expression:serum (human)

RGD

NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730

G

interferon alpha 2

susceptibility

DNA:SNP:exon: p.Ala120Thr (human)

RGD

NCBI chr 5:103,258,617...103,259,195

G

interferon gamma

protein:decreased expression:serum (human)

RGD

PMID:26684441 PMID:28465467

RGD:14974255, RGD:39939037

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

interferon, lambda 1

mRNA:increased expression:peripheral blood mononuclear cell (human)

RGD

NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235

G

interleukin 12A

mRNA:increased expression:liver

RGD

NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734

G

interleukin 12B

susceptibility

DNA:SNP:3'utr: (rs3212227)

RGD

NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903

G

interleukin 18

disease_progression

DNA:SNP:promoter:-607C>A(human)

RGD

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 1 receptor-like 1

severity

protein:increased expression:serum:

RGD

PMID:27180842 PMID:28381383

RGD:39457933, RGD:39938857

NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256

G

interleukin 2

susceptibility

DNA:polymorphism:promoter:-385T>G(human)

RGD

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 21

susceptibility
treatment
exacerbates

DNA:SNP:intron: (rs2221903) (human)
associated with non-alcoholic fatty liver disease
DNA:SNPs:introns: (rs2221903, rs907715) (human)
protein:increased expression:blood serum (human)
protein:decreased expression:blood serum (human)

RGD

PMID:23354321 PMID:31281514 PMID:26840345 PMID:29879024 PMID:25243706 More...

RGD:127285353, RGD:127285551, RGD:127285549, RGD:127285539, RGD:127285378, RGD:127285369, RGD:127285364, RGD:127285361

NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996

G

interleukin 33

severity
treatment

RGD

PMID:27180842 PMID:25714983

RGD:39457933, RGD:39938954

NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373

G

interleukin 4

disease_progression
treatment

DNA:SNP:promoter:-590C>T (human)

RGD

PMID:26281177 PMID:21331994

RGD:14696675, RGD:14696697

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

inter-alpha-trypsin inhibitor heavy chain 4

protein:increased expression:serum

RGD

NCBI chr16:6,080,539...6,095,710
Ensembl chr16:6,080,539...6,095,708

G

Janus kinase 1

disease_progression

DNA:SNPs: :rs4244165, rs17127024 (human)

RGD

NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926

G

Kelch-like ECH-associated protein 1

mRNA:decreased expression:liver (human)

RGD

NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862

G

killer cell lectin like receptor C1

severity

protein:increased expression:Peripheral blood mononuclear cell, natural killer cell (human)

NCBI chr 4:163,142,142...163,152,425
Ensembl chr 4:163,147,189...163,152,425

G

killer cell lectin like receptor K1

susceptibility

DNA:SNP:intron 1:(rs2617160) (human)

RGD

NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459

G

keratin 18

disease_progression
severity

protein:increased phosphorylation:liver (human)
protein:increased degradation:serum (human)

RGD

PMID:20334631 PMID:28579343

RGD:18337487, RGD:18337494

NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
Ensembl chr10:133,157,475...133,161,166

G

leptin receptor

mRNA:altered exression:PBMC,liver

RGD

NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908

G

mannose binding lectin 2

severity

DNA:haplotype: :

RGD

NCBI chr 1:228,016,439...228,024,736

G

microRNA 106b

severity

associated with hepatocellular carcinoma;miRNA:increased expression:liver (human)

RGD

NCBI chr12:17,043,344...17,043,425
Ensembl chr12:17,043,344...17,043,425

G

microRNA 146a

mRNA:increased expression:T cell (human)

RGD

NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610

G

microRNA 155

RGD

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

MPL proto-oncogene, thrombopoietin receptor

protein:decreased expression:blood serum (human)

NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797

G

natural cytotoxicity triggering receptor 1

severity
disease_progression

protein:increased expression:Peripheral blood mononuclear cell, natural killer cell (human)
protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
protein:decreased expression:Peripheral blood mononuclear cell, natural killer cell (human)

RGD

PMID:28328926 PMID:26291078 PMID:29625837

RGD:40400737, RGD:40818237, RGD:39128177

NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558

G

NFKB inhibitor alpha

disease_progression

DNA:enhancers: :(rs2233406, rs2233409) (human)

RGD

NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941

G

programmed cell death 1

disease_progression
no_association

DNA:SNP:3' UTR:rs10204525(human)
protein:altered expression:serum:
DNA:SNP:exon:
DNA:SNPs::+7146 G>A,+7209 C>T(human)

RGD

PMID:30016557 PMID:28983583 PMID:20700634 PMID:25736598

RGD:40818231, RGD:40818415, RGD:40818262, RGD:40818233

NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937

G

protein phosphatase 1, regulatory subunit 15A

mRNA,protein:increased expression:liver

RGD

NCBI chr 1:96,000,053...96,003,128
Ensembl chr 1:96,000,058...96,003,171

G

PR/SET domain 1

disease_progression

RGD

NCBI chr20:47,959,858...47,981,488
Ensembl chr20:47,959,858...47,981,488

G

RT1 class II, locus Ba

treatment
susceptibility
disease_progression

DNA:polymorphisms: :
DNA:polymorphisms: :HLA-DQA1*0101/2/4, HLA-DQA1*0103 (human)
DNA:haplotype::
DNA:polymorphisms: :HLA-DQA1*0303, HLA-DQA1*0505(human)
DNA:polymorphism: :

RGD

PMID:27386643 PMID:30168489 PMID:22807686 PMID:16883532 PMID:15237447 More...

RGD:14398752, RGD:14398755, RGD:14398843, RGD:14398840, RGD:14398838, RGD:14398759

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

treatment
no_association

DNA:polymorphisms (human)
DNA:polymorphism: :HLA-DQB1*07(human)
DNA:SNP: :rs2856718 (human)
DNA:polymorphisms: :multiple

RGD

PMID:16893387 PMID:16237774 PMID:28267888 PMID:29287219

RGD:5147637, RGD:36049762, RGD:14974232, RGD:14865012

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

disease_progression
susceptibility

DNA:haplotype::
DNA:polymorphisms: :

RGD

PMID:16883532 PMID:16237774

RGD:14398840, RGD:36049762

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

RT1 class II, locus Ha

treatment
disease_progression
susceptibility

CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs3077(human)
DNA:polymorphism::HLA-DPA1*04:01(human)
mRNA:decreased expression:peripheral blood mononuclear cell:

CTD
RGD

PMID:19349983 PMID:29300980 PMID:28275747 PMID:30267609 PMID:30267609

RGD:14694973, RGD:14694818, RGD:14694817, RGD:14694817

NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244

G

RT1 class II, locus Hb, pseudogene 1

susceptibility
severity
treatment

CTD Direct Evidence: marker/mechanism
DNA:SNP:exon 6: (rs9277542) (human)
DNA:SNPs:multiple (human)
DNA:SNP:exon, 3' utr: (rs9277542) (human)
DNA:polymorphisms, haplotypes:multiple (human)
DNA:polymorphisms:multiple (human)
DNA:polymorphism:exon, 3' utr: (rs9277535) (human)
DNA:SNP: :rs33054861(human)
DNA:polymorphism: :(human)

PMID:19349983 PMID:21274863 PMID:21310144 PMID:22737229 PMID:24520320 More...

RGD:11536957 RGD:14694816 RGD:14974232 RGD:150429660 RGD:150429794 RGD:150429799 RGD:150429802 RGD:150429807 RGD:150429808

NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618

G

signal transducer and activator of transcription 2

mRNA:decreased expression:monocyte (human)

RGD

NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967

G

signal transducer and activator of transcription 4

susceptibility

DNA:SNPs, haplotypes:multiple

RGD

NCBI chr 9:49,472,660...49,588,540
Ensembl chr 9:49,419,340...49,588,540

G

stimulator of interferon response cGAMP interactor 1

susceptibility

DNA:hypermethylation:promoter

RGD

NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335

G

transporter 1, ATP binding cassette subfamily B member

mRNA:decreased expression:blood

RGD

NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901

G

telomerase reverse transcriptase

susceptibility

DNA:SNP, haplotype: :rs10069690,rs2242652(human)

RGD

NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561

G

transforming growth factor, beta 1

no_association

DNA:SNPs, haplotypes: :869C>T (rs1800470), 11929C>T (rs1800472) (human)
DNA:SNPs:promoter:-509C>T (rs1800469) (human)

RGD

PMID:28700046 PMID:28700046

RGD:14995436, RGD:14995436

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

toll-like receptor 2

treatment
disease_progression

protein:increased expression:serum:

RGD

PMID:28414577 PMID:25771704 PMID:25337250

RGD:15090812, RGD:15090828, RGD:15090826

NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630

G

toll-like receptor 3

susceptibility

DNA:snp: :rs3775290(human)
DNA:SNP, haplotype: :1234C>T (human)

RGD

PMID:26024592 PMID:23076446

RGD:21079416, RGD:21079425

NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545

G

toll-like receptor 4

protein:increased expression:serum:

RGD

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

toll-like receptor 9

severity

mRNA, protein: decreased expression:liver, CD14-positive monocyte (human)
protein:increased expression:peripheral blood mononuclear cell (human)
protein: increased expression:peripheral blood mononuclear cell (human)
mRNA, protein:decreased expression:peripheral blood mononuclear cell (human)
DNA:SNPs: 5'UTR: (rs5743836, rs187084) (human)

RGD

PMID:24622882 PMID:27126946 PMID:18215354 PMID:19513613 PMID:30453064

RGD:18337464, RGD:18337474, RGD:18337472, RGD:18337470, RGD:18337467

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

G

TNF alpha induced protein 3

susceptibility

DNA:SNP,haplotypes: (rs148314165, rs200820567) (human)

RGD

NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282

G

TNF superfamily member 13b

treatment

RGD

NCBI chr16:79,462,406...79,492,888
Ensembl chr16:79,462,402...79,492,693

G

ubiquitin-conjugating enzyme E2L 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:83,797,722...83,838,862
Ensembl chr11:83,797,722...83,838,862

G

zinc finger homeobox 3

protein:increased expression:blood serum (human)

RGD

NCBI chr19:36,257,196...36,886,104
Ensembl chr19:36,630,254...36,881,771

Chronic Hepatitis C

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 1

severity

DNA:SNP:introns:(rs3890182, rs1883025) (human)

RGD

NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170

G

ATP binding cassette subfamily B member 11

susceptibility
treatment
disease_progression

DNA:SNP:cds:1331T>C, p.V444A,(rs2287622)(human)
DNA:SNP:cds:c.1331T>C (rs2287622)(human)

RGD

PMID:29755014 PMID:29091211 PMID:22681771

RGD:14402415, RGD:14402417, RGD:14402416

NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730

G

ATP binding cassette subfamily B member 1A

susceptibility
treatment

DNA:SNP::2677G>T/A(rs2032582)(human)
DNA:SNP: :3435C>T(human)

RGD

PMID:26922556 PMID:29155127

RGD:11574565, RGD:14700907

NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709

G

angiotensin I converting enzyme

treatment

protein:decreased expression:serum (human)

RGD

PMID:29641775 PMID:17106926 PMID:27147779

RGD:25671451, RGD:40400711, RGD:25671456

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

adenosine deaminase, RNA-specific

no_association
disease_progression
treatment

DNA:SNP:exon: (rs1127309) (human)
associated with human immunodeficiency virus infectious disease;DNA:missense mutation:exon 2, 3' utr:p.K384R (rs2229857, rs1127326) (human)
DNA:silent mutation:CDS:p.V849V (rs1127309) (human)
DNA:snps, haplotype: (rs7515339, rs903323) (human)

RGD

PMID:26911666 PMID:29906476 PMID:19434718 PMID:17979507

RGD:11554370, RGD:125097514, RGD:125097513, RGD:38599150

NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:serum

RGD

NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564

G

activation-induced cytidine deaminase

disease_progression

mRNA:increased expression:B cell
mRNA, protein:increased expression:B cell, CD19-positive (human)
mRNA:increased expression:peripheral blood mononuclear cell (human)

RGD

PMID:26219420 PMID:20189883 PMID:26946048

RGD:30296664, RGD:32716380, RGD:32716369

NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972

G

angiogenin

RGD

NCBI chr15:24,312,711...24,323,361

G

apolipoprotein E

severity

DNA:polymorphism:exon:

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

aurora kinase A

mRNA:increased expression:CD19+Bcell:

RGD

NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390

G

C-C motif chemokine ligand 2

RNA:increased expression:liver:

RGD

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 5

severity
treatment
disease_progression

DNA:polymorphism:promoter:-403G>A(human)
DNA:SNPs,haplotype: :
mRNA:increased expression:liver:
DNA:SNP: :rs3817656(human)

RGD

PMID:12557141 PMID:15368437 PMID:15770052 PMID:29703961

RGD:14995332, RGD:14995340, RGD:14995336, RGD:14995334

NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377

G

cyclin D1

mRNA:increased expression:CD19+Bcell:

RGD

NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602

G

cyclin D2

mRNA:increased expression:CD19+Bcell:

RGD

NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495

G

C-C motif chemokine receptor 5

disease_progression
treatment

DNA:deletion:cds:

RGD

PMID:12055576 PMID:12873822

RGD:14401729, RGD:14401737

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

G

CD163 molecule

exacerbates

protein:increased expression:blood serum (human)

RGD

NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878

G

CD209d molecule

DNA:SNPs,haplotypes:promoter: -939G>A, -871A>G (human)

RGD

NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171

G

CD226 molecule

treatment

NCBI chr18:82,449,924...82,545,107
Ensembl chr18:82,450,568...82,543,051

G

CD274 molecule

protein:increased expression:peripheral blood mononuclear cell

RGD

NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450

G

claudin 1

susceptibility

associated with intravenous substance abuse;DNA:SNP:promoter, intron:multiple mutations
mRNA:decreased expression:liver (human)

RGD

PMID:19674288 PMID:21412800

RGD:25330352, RGD:26884350

NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724

G

C-type lectin domain family 4 member M

disease_progression

DNA:polymorphism,repeats:exon4: allele 4 (human)

RGD

NCBI chr12:1,915,902...1,924,529
Ensembl chr12:1,915,919...1,924,539

G

carnitine palmitoyltransferase 1A

mRNA, protein:decreased expression:liver hepatocytes (human)

RGD

NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055

G

C-reactive protein

RGD

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

cytotoxic T-lymphocyte-associated protein 4

treatment

DNA:SNP,haplotype:exon,promoter:49A>G,-318 T>C(human)

RGD

NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963

G

C-X-C motif chemokine ligand 10

protein:increased expression:serum

RGD

NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975

G

cytochrome P450, family 27, subfamily b, polypeptide 1

severity

DNA:polymorphism:promoter: 1260C>A (rs10877012) (human)

RGD

NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241

G

cytochrome P450, family 2, subfamily d, polypeptide 4

protein:increased expression:serum:

RGD

NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759

G

forkhead box P3

RGD

NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838

G

gamma-glutamyltransferase 1

severity

RGD

NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442

G

glutamic--pyruvic transaminase

protein:increased activity:plasma

RGD

NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494

G

glutamic--pyruvic transaminase 2

protein:increased activity:plasma

RGD

NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610

G

glutathione S-transferase mu 1

RGD

NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411

G

glutathione S-transferase theta 1

RGD

NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585

G

haptoglobin

CTD Direct Evidence: marker/mechanism

NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523

G

indoleamine 2,3-dioxygenase 1

mRNA, protein:increased expression, increased activity:monocytes,myeloid dendritic cells,serum (human)

RGD

NCBI chr16:67,430,654...67,442,726
Ensembl chr16:67,430,578...67,442,730

G

interferon alpha 2

treatment

associated with end stage renal disease

RGD

PMID:9187562 PMID:7493300 PMID:19152412 PMID:21272456 PMID:8868074 More...

RGD:40886308, RGD:40886318, RGD:40886316, RGD:40886314, RGD:40886313, RGD:40886311, RGD:40886310

NCBI chr 5:103,258,617...103,259,195

G

interferon, lambda 1

ameliorates

protein:increased expression:blood serum (human)
mRNA,protein:increased expression:liver, blood serum (human)
protein:altered expression:blood serum (human)

RGD

PMID:30926417 PMID:23071503 PMID:21145813

RGD:126848741, RGD:126848749, RGD:126848747

NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235

G

interferon, lambda 3

treatment
disease_progression
susceptibility

DNA:SNP: :rs8099917 (human)
DNA:SNP:enhancer: (rs8099917) (human)
DNA:SNP,haplotype:enhancer: (rs12979860,rs8099917) (human)
DNA:SNP:enhancer: (rs12979860) (human)
DNA:SNP:enhancer: (rs12979860,rs8099917) (human)
DNA:SNP:5'utr: (rs12979860) (human)
DNA:SNPs:3'utr, enhancer: (rs12980275, rs12979860) (human)
DNA:SNP:3' utr: (rs4803217) (human)
associated with Hemoglobinopathies;DNA:missense mutation, enhancer, haplotype:cds, :p.K70R, (rs12979860) (human)

RGD

PMID:23730840 PMID:24355007 PMID:24646752 PMID:28186161 PMID:26741362 More...

RGD:10766476, RGD:11096670, RGD:40886292, RGD:40886290, RGD:11344289, RGD:40886281, RGD:40886277, RGD:40822824, RGD:40400891, RGD:14398733, RGD:14398740, RGD:11528556

NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096

G

insulin-like growth factor 2

severity

DNA:SNPs, haplotype:multiple

RGD

NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018

G

interleukin 10

treatment
no_association
susceptibility

protein:increased expression:serum:
DNA:SNP:promoter: rs3021094, rs3024498 (human)
DNA:SNP:promoter:-592C>A (rs1800872) (human)
DNA:polymorphism:promoter:

RGD

PMID:26095186 PMID:25708446 PMID:29247709 PMID:29247709 PMID:26095186

RGD:14700655, RGD:38456002, RGD:14975141, RGD:14975141, RGD:14700655

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 12B

severity

DNA:SNP:3' utr:+1188A>C (human)

RGD

NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903

G

interleukin 17D

severity

associated with human immunodeficiency virus infectious disease;mRNA:increased expression:blood plasma (human)

NCBI chr15:31,671,337...31,688,833

G

interleukin 18

treatment
disease_progression

DNA:SNP:promoter:-607C>A (rs1946518)(human)

RGD

PMID:25198668 PMID:19740312

RGD:14696651, RGD:14696656

NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887

G

interleukin 2

treatment

RGD

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 21

ameliorates

protein:increased expression:liver, blood, CD4-positive, alpha-beta T cell (human)

RGD

NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996

G

interleukin 27

ameliorates

DNA:SNP:promoter:-964A>G (rs153109) (human)

RGD

NCBI chr 1:181,173,108...181,178,720
Ensembl chr 1:181,173,372...181,178,582

G

interleukin 4

treatment

DNA:SNPs:promoter:-590C>T,-33T>C (human)
associated with factor VIII deficiency;protein:increased expression:serum:

RGD

PMID:22594992 PMID:25708446 PMID:23591975

RGD:14696678, RGD:38456002, RGD:14696686

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

interleukin 6

treatment

DNA:SNPs:promoter:rs1800795 (human)

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

ISG15 ubiquitin-like modifier

treatment

RGD

NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435

G

integrin subunit beta 6

CTD Direct Evidence: marker/mechanism

NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671

G

killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1

severity

protein:decreased expression:peripheral blood mono-nuclear cell, natural killer cell (human)

RGD

PMID:19470388 PMID:27239111

RGD:38676473, RGD:38676476

NCBI chr 1:69,715,529...69,754,050
Ensembl chr 1:69,715,535...69,754,050

G

killer cell lectin like receptor C1

treatment

protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)

PMID:16322112 PMID:31218578 PMID:20550548

RGD:40818296, RGD:40400920, RGD:40818079

NCBI chr 4:163,142,142...163,152,425
Ensembl chr 4:163,147,189...163,152,425

G

killer cell lectin like receptor K1

treatment
disease_progression

protein:decreased expression:liver,natural killer cell (human)
protein:increased expression:peripheral blood mononuclear cell,natural killer cell (human)

RGD

PMID:25965701 PMID:25148254 PMID:21168454

RGD:39018562, RGD:40813739, RGD:40400738

NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459

G

keratin 18

disease_progression
severity

protein:increased expression:serum (human)
protein:increased expression:liver, serum (human)
protein:increased degradation:serum (human)

RGD

PMID:30839434 PMID:23820504 PMID:22404726 PMID:19333204

RGD:18337481, RGD:18337500, RGD:18337496, RGD:18337493

NCBI chr 7:133,157,486...133,161,162
Ensembl chr 7:133,157,475...133,161,166
Ensembl chr10:133,157,475...133,161,166

G

keratin 8

protein:increased phosphorylation:liver (human)

RGD

NCBI chr 7:133,124,203...133,131,656
Ensembl chr 7:133,124,203...133,131,728

G

leptin

protein:altered localization:serum (human)

RGD

NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262

G

leptin receptor

mRNA:altered exression:PBMC,liver

RGD

NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908

G

galectin 3

mRNA:increased expression:CD19+Bcell:

RGD

NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025

G

mannose binding lectin 2

treatment

DNA:SNPs:promoter,exon:
DNA:haplotype:promoter, exon:

RGD

PMID:18336595 PMID:25956563

RGD:14696820, RGD:11076743

NCBI chr 1:228,016,439...228,024,736

G

microRNA 107

RNA:decreased expression:liver:

RGD

NCBI chr 1:232,337,767...232,337,853
Ensembl chr 1:232,337,767...232,337,853

G

microRNA 122

miRNA:increased expression:serum

RGD

NCBI chr18:58,758,703...58,758,787

G

microRNA 146a

miRNA:increased expression:liver (human)
miRNA:increased expression:peripheral blood mononuclear cell (mouse)

RGD

PMID:27147737 PMID:25877355

RGD:126925147, RGD:126925186

NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610

G

microRNA 155

miRNA:increased expression:serum
associated with rheumatoid arthritis

RGD

PMID:30852102 PMID:29575671

RGD:21079478, RGD:21403686

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

microRNA 223

treatment

RGD

NCBI chr X:61,141,887...61,141,996
Ensembl chr X:61,141,887...61,141,996

G

MX dynamin like GTPase 1

treatment
exacerbates

DNA:SNPs:promoter:g.-123C>A, -88G>T(human)
DNA:SNPs:promoter: (rs2071430, rs17000900) (human)

RGD

PMID:28036111 PMID:25239021 PMID:29271328

RGD:40400915, RGD:11067846, RGD:126777679

NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507

G

natural cytotoxicity triggering receptor 1

treatment
disease_progression

protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)
protein:decreased expression:liver, natural killer cell (human)

RGD

PMID:31218578 PMID:23813131 PMID:16322112 PMID:21695691 PMID:20550548 More...

RGD:40400920, RGD:40818297, RGD:40818296, RGD:40818295, RGD:40818079, RGD:40813739, RGD:40400738

NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558

G

natural cytotoxicity triggering receptor 3

disease_progression
treatment

protein:decreased expression:peripheral blood mononuclear cell, natural killer cell (human)
protein:increased expression:peripheral blood mononuclear cell, natural killer cell (human)

RGD

PMID:21168454 PMID:23813131 PMID:16322112 PMID:21695691 PMID:20550548

RGD:40400738, RGD:40818297, RGD:40818296, RGD:40818295, RGD:40818079

NCBI chr20:3,637,242...3,643,748
Ensembl chr20:3,638,240...3,643,799

G

nuclear factor kappa B subunit 1

disease_progression

DNA:insertion:promoter: -94insATTG (rs28362491) (human)

RGD

NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404

G

plasminogen activator, urokinase

RGD

NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775

G

peroxisome proliferator activated receptor alpha

mRNA, protein:decreased expression:liver hepatocytes (human)
associated with liver cirrhosis;mRNA, protein:decreased expression:liver (human)

RGD

PMID:15685545 PMID:15685545

RGD:5683635, RGD:5683635

NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346

G

peroxiredoxin 5

mRNA:decreased expression:liver, blood (human)

NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268

G

perforin 1

disease_progression

protein:increased expression:peripheral blood mononuclear cell (human)

RGD

NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701

G

RT1 class II, locus Ba

susceptibility

DNA:polymorphism: :HLA DQA1*03(human)
DNA:polymorphism:haplotype:

RGD

PMID:8938158 PMID:9537846

RGD:14398842, RGD:14401559

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

disease_progression

DNA:polymorphism:cds:HLA-DQB1*02 (human)

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

G

RT1 class II, locus Db1

disease_progression

DNA:polymorphism (human)
DNA:polymorphisms:cds:HLA-DRB1*030101, DRB1*0701(human)

RGD

PMID:18925312 PMID:17489060

RGD:5147618, RGD:36174022

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

RT1 class II, locus Ha

disease_progression

DNA:SNP, haplotype: :rs3077, rs9277534(human)

RGD

NCBI chr20:4,760,631...4,770,662
Ensembl chr20:4,760,118...4,770,244

G

RT1 class II, locus Hb, pseudogene 1

ameliorates

mRNA:increased expression:peripheral blood mononuclear cell(human)
DNA:polymorphism: :HLA-DPB1*04:01 (human)

PMID:27601657 PMID:28332201

RGD:150429796 RGD:150429805

NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,774,650...4,780,618

G

solute carrier family 11 member 1

disease_progression

DNA:polymorphisms, haplotype:promoter (human)

RGD

NCBI chr 9:75,957,193...75,968,115
Ensembl chr 9:75,957,316...75,968,101

G

solute carrier family 6 member 4

susceptibility

associated with alexithymia;DNA:haplotypes, multiple:

RGD

NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384

G

SMAD family member 4

protein:increased expression:liver:

RGD

NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438

G

secreted phosphoprotein 1

treatment

DNA:SNPs:promoter:-443C>T, -1748G>A (human)

RGD

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

signal transducer and activator of transcription 3

severity

RGD

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

toll-like receptor 3

treatment
severity
disease_progression
susceptibility

DNA:SNP:cds:p.Leu412Phe(human)
DNA:SNP: :rs13126816 (human)
DNA:SNP: :rs3775290(human)
treatment:peginterferon plus ribavirin.

RGD

PMID:23240626 PMID:28480979 PMID:23220997 PMID:29860675 PMID:30321082 More...

RGD:21079422, RGD:21079435, RGD:21079430, RGD:21079428, RGD:21079427, RGD:21079423

NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545

G

toll-like receptor 4

susceptibility

DNA:SNP: :rs2148356(human)
protein:increased expression:serum:

RGD

PMID:26095186 PMID:26095186

RGD:14700655, RGD:14700655

NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628

G

toll-like receptor 9

severity

mRNA, protein:decreased expression:peripheral blood mononuclear cell (human)
protein:increased expression:liver, peripheral blood mononuclear cell (human)

RGD

PMID:19513613 PMID:23026026

RGD:18337470, RGD:18337477

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

G

tumor necrosis factor

treatment
severity

protein:increased expression:serum (human)
protein:increased expression:plasma (human)

RGD

PMID:9047083 PMID:25708446 PMID:9440625

RGD:14995307, RGD:38456002, RGD:14995439

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

TNF receptor superfamily member 1A

treatment

RGD

NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591

G

ubiquitin specific peptidase 18

treatment

RGD

NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144

G

vitamin D receptor

treatment
no_association

DNA:polymorphism: :

RGD

PMID:27263300 PMID:26725771

RGD:14401746, RGD:14401749

NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677

G

X-ray repair cross complementing 1

susceptibility

DNA:missense mutation:cds:p.R194W, p.R280H, p.R399Q (human)

RGD

NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701

G

zinc finger CCCH type containing 12A

severity

protein:increased expression:liver (human)

PMID:21739451 PMID:25225661

RGD:39938976, RGD:39938960

NCBI chr 5:137,376,562...137,385,351
Ensembl chr 5:137,376,564...137,385,351

chronic mucocutaneous candidiasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-type lectin domain containing 7A

ClinVar Annotator: match by term: Candidiasis familial chronic mucocutaneous, autosomal recessive

PMID:19864674 PMID:20807886 PMID:24033266 PMID:25741868

NCBI chr 4:162,902,731...162,913,931
Ensembl chr 4:162,902,732...162,913,897

G

interleukin 17 receptor A

ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis | ClinVar Annotator: match by term: Familial Candidiasis, Recessive

PMID:16670328 PMID:18802100 PMID:21178015 PMID:21350122 PMID:24033266 More...

NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174

G

mitogen-activated protein kinase 8

associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human)

RGD

NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981

G

signal transducer and activator of transcription 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chronic mucocutaneous candidiasis

PMID:21714643 PMID:21727188 PMID:23541320 PMID:23709754 PMID:24033266 More...

NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540

common cold

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arachidonate 5-lipoxygenase

protein:increased expression:bronchus

RGD

NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743

G

arachidonate 5-lipoxygenase activating protein

protein:increased expression:bronchus

RGD

NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986

G

C-X3-C motif chemokine ligand 1

RGD

NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833

G

C-X-C motif chemokine ligand 1

associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:respiratory epithelial cell

RGD

NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215

G

C-X-C motif chemokine ligand 10

protein:increased expression:respiratory system fluid/secretion

RGD

NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975

G

C-X-C motif chemokine ligand 3

associated with Pulmonary Disease, Chronic Obstructive;protein:increased expression:respiratory epithelial cell

NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511

G

C-X-C motif chemokine ligand 6

associated with Asthma

RGD

NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093

G

C-X-C motif chemokine receptor 2

RGD

NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425

G

defensin beta 4

mRNA, protein:increased expression:nasal cavity epithelium, nasal mucus

RGD

NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665

G

defensin beta 5

mRNA, protein:increased expression:nasal cavity epithelium, nasal mucus

NCBI chr16:70,612,985...70,615,389
Ensembl chr16:70,613,146...70,615,467

G

interferon alpha 2

treatment

RGD

NCBI chr 5:103,258,617...103,259,195

G

interleukin 10

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 1 alpha

protein:increased expression:nasal mucus

RGD

NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822

G

interleukin 1 beta

protein:increased expression:nasal mucus

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

protein:increased expression:nasal mucus

RGD

PMID:18279051 PMID:10358201

RGD:4143207, RGD:4143183

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 33

protein:increased expression:nasal mucus

RGD

NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373

G

interleukin 4

associated with Asthma;mRNA, protein:increased expression:alveolar macrophage, respiratory system fluid/secretion

RGD

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

peroxiredoxin 5

associated with asthma;protein:increased expression:sputum (human)

RGD

NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268

G

thymic stromal lymphopoietin

protein:increased expression:nasal mucus (human)

RGD

NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548

common wart

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphism: :HLA-DQB1*0301

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

Coronary Artery Disease, Development of, in HIV

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 2

ClinVar Annotator: match by term: Coronary artery disease, development of, in HIV

PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

Coronaviridae Infections

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

killer cell lectin like receptor K1

RGD

NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459

Coronavirus infectious disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

Severe Acute Respiratory Syndrome

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

angiotensin converting enzyme 2

CTD Direct Evidence: marker/mechanism

PMID:14647384 PMID:16007097 PMID:19453650 PMID:19625462 PMID:22496216 More...

NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226

G

C-C motif chemokine ligand 3

RGD

NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938

G

C-C motif chemokine receptor 1

NCBI chr 8:123,556,286...123,561,841

G

C-C motif chemokine receptor 2

NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100

G

C-C motif chemokine receptor 5

Respiratory Syndrome, Severe Acute; mRNA:increased expression:lung (mouse)

PMID:19906920 PMID:11543653

RGD:4891446, RGD:14401732

NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260

G

CD209c molecule

RGD

NCBI chr12:1,936,233...1,943,841
Ensembl chr12:1,936,396...1,942,040

G

CD209d molecule

NCBI chr12:1,891,109...1,897,559
Ensembl chr12:1,891,113...1,901,171

G

cathepsin L

CTD Direct Evidence: marker/mechanism

PMID:16081529 PMID:23678171 PMID:27733646

NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548

G

C-X-C motif chemokine ligand 10

RGD

PMID:19626487 PMID:19906920

RGD:27095957, RGD:4891446

NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975

G

C-X-C motif chemokine ligand 2

RGD

NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075

G

C-X-C motif chemokine ligand 3

RGD

NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511

G

dipeptidylpeptidase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 3:46,962,233...47,043,870
Ensembl chr 3:46,962,243...47,043,901

G

epidermal growth factor receptor

NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382

G

interferon beta 1

CTD Direct Evidence: therapeutic

NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523

G

interferon gamma

RGD

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

interleukin 10

RGD

NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313

G

interleukin 2

RGD

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 5

RGD

NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213

G

interleukin 6

Severe Acute Respiratory Syndrome;protein:increased expression:lung

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

mitogen activated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616

G

mitogen activated protein kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863

G

mannose binding lectin 2

Severe Acute Respiratory Syndrome; DNA:mutations:5' utr, exon:g.-221G>C, p.G54N (human)

RGD

NCBI chr 1:228,016,439...228,024,736

G

mucin 4, cell surface associated

NCBI chr11:68,008,245...68,053,242

G

MYD88, innate immune signal transduction adaptor

NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415

G

phosphatidylinositol 4-kinase beta

CTD Direct Evidence: marker/mechanism

NCBI chr 2:182,540,377...182,572,684
Ensembl chr 2:182,540,567...182,588,488

G

protein phosphatase 1, regulatory (inhibitor) subunit 14c

NCBI chr 1:39,773,403...39,886,970
Ensembl chr 1:39,773,403...39,886,956

G

serpin family E member 1

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

surfactant protein D

Severe Acute Respiratory Syndrome;protein:increased expression:lung

RGD

NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927

G

TIR domain containing adaptor molecule 2

NCBI chr18:39,289,902...39,311,462
Ensembl chr18:39,294,453...39,311,462

G

transmembrane serine protease 11D

CTD Direct Evidence: marker/mechanism

NCBI chr14:21,707,336...21,769,398
Ensembl chr14:21,707,336...21,769,396

G

tumor necrosis factor

RGD

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

COVID-19

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-2-macroglobulin

severity

DNA:SNPs: :
mRNA:decreased expression:peripheral blood mononuclear cell (human)

PMID:32228226 PMID:32747830

RGD:28912744, RGD:38500238

NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786

G

ATP binding cassette subfamily B member 1A

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709

G

ATP binding cassette subfamily D member 1

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115

G

ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase

susceptibility

DNA:polymorphism:cds:allele A, allele O (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:32558485 PMID:32379894

NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423

G

1-aminocyclopropane-1-carboxylate synthase

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 3:79,805,254...79,820,830
Ensembl chr 3:79,806,587...79,820,835

G

angiotensin I converting enzyme

severity
no_association

DNA:insertion/deletion:intron 16:

RGD

PMID:32286246 PMID:32386188

RGD:30309199, RGD:30309201

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

angiotensin converting enzyme 2

severity

human gene in a mouse model
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:insertion/deletion:intron 16:

MouseDO
CTD
RGD

PMID:31996437 PMID:32061198 PMID:32081428 PMID:32092392 PMID:32117569 More...

RGD:30310239, RGD:151347433, RGD:151347432, RGD:32716393

NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977

G

aconitase 2

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261

G

activin A receptor type 1B

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 7:132,286,266...132,329,679
Ensembl chr 7:132,286,275...132,329,673

G

activin A receptor like type 1

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591

G

ADAM metallopeptidase domain 15

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 2:174,754,629...174,765,136
Ensembl chr 2:174,754,633...174,765,113

G

ADAM metallopeptidase domain 9

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917

G

ADAM metallopeptidase with thrombospondin type 1 motif, 1

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr11:24,932,227...24,941,068
Ensembl chr11:24,931,761...24,941,103

G

ADAM metallopeptidase with thrombospondin type 1 motif, 2

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr10:34,920,992...35,126,465
Ensembl chr10:34,921,049...35,123,821

G

ArfGAP with dual PH domains 2

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr10:65,138,006...65,166,147
Ensembl chr10:65,138,020...65,165,604

G

adhesion G protein-coupled receptor B2

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr 5:142,299,190...142,362,540
Ensembl chr 5:142,331,329...142,362,540

G

adrenomedullin

mRNA:increased expression:bronchoalveolar lavage (human)

NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654

G

adenosine A3 receptor

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 2:193,352,759...193,392,946
Ensembl chr 2:193,388,713...193,392,357

G

ADP-ribosylarginine hydrolase

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr11:62,299,831...62,306,170
Ensembl chr11:62,299,793...62,306,931

G

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr 9:90,039,720...90,475,196
Ensembl chr 9:90,039,605...90,470,958

G

1-acylglycerol-3-phosphate O-acyltransferase 2

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

angiotensin II receptor, type 1a

associated with hypertension

RGD

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

AHNAK nucleoprotein

mRNA:decreased expression:CD4+ T cells (human)

NCBI chr 1:205,882,225...205,970,934
Ensembl chr 1:205,882,273...205,970,926

G

axin interactor, dorsalization associated

mRNA:increased expression:bronchoalveolar lavage (human)

NCBI chr13:94,940,311...94,967,920
Ensembl chr13:94,939,741...94,967,920

G

aminoacyl tRNA synthetase complex-interacting multifunctional protein 2

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr12:10,701,194...10,710,772
Ensembl chr12:10,701,194...10,710,769

G

apical junction component 1 homolog

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr 3:8,394,942...8,401,323
Ensembl chr 3:8,392,889...8,401,321

G

adenylate kinase 2

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 5:141,308,650...141,364,633
Ensembl chr 5:141,346,063...141,364,632

G

adenylate kinase 4

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 5:116,039,222...116,099,064
Ensembl chr 5:116,039,616...116,098,618

G

A-kinase anchoring protein 12

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr 1:40,730,123...40,819,863
Ensembl chr 1:40,730,123...40,819,886

G

A-kinase anchoring protein 5

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr 6:95,051,527...95,061,075
Ensembl chr 6:95,051,537...95,061,578

G

A-kinase interacting protein 1

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 1:163,734,730...163,743,648
Ensembl chr 1:163,734,798...163,743,648

G

aldo-keto reductase family 1, member C3

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873

G

AKT serine/threonine kinase 3

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708

G

albumin

severity

RGD

PMID:32198776 PMID:32427582

RGD:30296673, RGD:30309200

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

activated leukocyte cell adhesion molecule

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr11:48,336,123...48,536,296
Ensembl chr11:48,336,169...48,537,954

G

aldehyde dehydrogenase 1 family, member L2

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 7:20,254,246...20,305,793
Ensembl chr 7:20,254,233...20,305,776

G

aldehyde dehydrogenase 4 family, member A1

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 5:151,880,002...151,905,491
Ensembl chr 5:151,830,701...151,925,345

G

aldehyde dehydrogenase 9 family, member A1

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr13:79,505,738...79,522,539
Ensembl chr13:79,505,695...79,540,568

G

ALG14, UDP-N-acetylglucosaminyltransferase subunit

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 2:209,368,285...209,445,425
Ensembl chr 2:209,368,312...209,445,431

G

arachidonate 15-lipoxygenase, type B

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812

G

amphiphysin

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr17:45,739,385...45,982,905
Ensembl chr17:45,739,395...45,983,315

G

angiogenin

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr15:24,312,711...24,323,361

G

angiopoietin 2

severity

protein:increased expression:plasma (human)

RGD

NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804

G

angiopoietin-like 6

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr 8:19,413,617...19,419,925
Ensembl chr 8:19,413,619...19,419,925

G

ankyrin repeat and LEM domain containing 1

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr16:18,076,413...18,082,356
Ensembl chr16:18,076,492...18,083,729

G

anillin, actin binding protein

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538

G

anoctamin 5

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555

G

annexin A1

mRNA:increased expression:bronchoalveolar lavage (human)

NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343

G

annexin A2

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658

G

annexin A5

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369

G

adaptor related protein complex 2 subunit sigma 1

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 1:77,417,496...77,428,903
Ensembl chr 1:77,417,477...77,428,905

G

apolipoprotein L9a

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 7:109,140,871...109,149,799
Ensembl chr 7:109,140,871...109,147,649

G

amphiregulin

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535

G

Rho GTPase activating protein 12

mRNA:increased expression:bronchoalveolar lavage (human)

NCBI chr17:51,588,810...51,702,417
Ensembl chr17:51,588,842...51,702,080

G

Rho GTPase activating protein 23

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr10:82,437,578...82,496,846
Ensembl chr10:82,394,648...82,496,504

G

Rho GTPase activating protein 29

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 2:210,060,036...210,132,572
Ensembl chr 2:210,071,199...210,132,028

G

Rho GTPase activating protein 31

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr11:62,038,635...62,151,564
Ensembl chr11:62,038,635...62,151,564

G

arkadia C-terminal like ring finger ubiquitin ligase 2C

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr18:70,984,566...71,100,836
Ensembl chr18:70,989,731...71,100,836

G

ARF like GTPase 4C

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr 9:89,300,335...89,303,770
Ensembl chr 9:89,298,005...89,304,513

G

ARF like GTPase 4D

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr10:86,592,054...86,602,843
Ensembl chr10:86,595,661...86,602,836

G

ARF like GTPase 5B

mRNA:increased expression:bronchoalveolar lavage (human)

NCBI chr17:77,955,864...77,979,895
Ensembl chr17:77,955,818...77,979,854

G

actin-related protein 2/3 complex inhibitor

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 1:133,864,288...133,873,124
Ensembl chr 1:133,864,265...133,873,124

G

ARVCF, delta catenin family member

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805

G

activating signal cointegrator 1 complex subunit 3

mRNA:increased expression:bronchoalveolar lavage (human)

NCBI chr20:53,510,137...53,795,446
Ensembl chr20:53,510,184...53,790,165

G

asialoglycoprotein receptor 2

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr10:54,821,407...54,834,624
Ensembl chr10:54,821,438...54,834,617

G

assembly factor for spindle microtubules

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755

G

ATPase phospholipid transporting 11A

CTD Direct Evidence: marker/mechanism

NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640

G

ATP synthase F1 subunit beta

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273

G

ATP synthase F1 subunit gamma

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr17:68,423,927...68,446,169
Ensembl chr17:68,423,909...68,608,367

G

ATP synthase membrane subunit c locus 3

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 3:58,810,535...58,813,185
Ensembl chr 3:58,810,535...58,814,279

G

ATP synthase peripheral stalk-membrane subunit b

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 2:193,424,138...193,435,418
Ensembl chr 2:193,424,047...193,435,418

G

ATPase H+ transporting V1 subunit F

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 4:58,067,666...58,070,628

G

aurora kinase A

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390

G

aurora kinase B

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837

G

activator of transcription and developmental regulator AUTS2

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416

G

beta-1,3-glucuronyltransferase 1

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr 8:25,087,123...25,114,692
Ensembl chr 8:25,087,547...25,113,395

G

beta-1,4-N-acetyl-galactosaminyl transferase 3

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr 4:153,409,019...153,509,019
Ensembl chr 4:153,409,004...153,509,321

G

beta-1,4-galactosyltransferase 5

mRNA:increased expression:bronchoalveolar lavage (human)

NCBI chr 3:156,018,056...156,033,983
Ensembl chr 3:156,018,053...156,070,074

G

BAG cochaperone 1

mRNA:increased expression:bronchoalveolar lavage (human)

NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075

G

basic leucine zipper ATF-like transcription factor 2

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 1:203,467,291...203,479,428
Ensembl chr 1:203,468,097...203,475,889

G

branched chain amino acid transaminase 1

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 4:177,964,834...178,046,573
Ensembl chr 4:177,964,834...178,046,597

G

BCL11 transcription factor A

CTD Direct Evidence: marker/mechanism

NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180

G

BCL11 transcription factor B

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr 6:126,834,531...126,927,720
Ensembl chr 6:126,834,531...126,928,224

G

BCL2-related protein A1

mRNA:increased expression:CD14++ monocytes (human)

NCBI chr 8:89,716,914...89,724,998
Ensembl chr 8:89,716,914...89,724,998

G

3-hydroxybutyrate dehydrogenase 1

severity

associated with cardiovascular system disease;protein:increased expression:blood (human)

RGD

NCBI chr11:69,302,534...69,343,173
Ensembl chr11:69,302,534...69,337,671

G

brain-enriched guanylate kinase-associated

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr 6:127,943,651...127,979,876
Ensembl chr 6:127,943,651...127,979,841

G

Bet1 golgi vesicular membrane trafficking protein

mRNA:increased expression:bronchoalveolar lavage (human)

NCBI chr 4:32,116,232...32,126,592
Ensembl chr 4:32,116,235...32,126,617

G

basic helix-loop-helix family, member e40

mRNA:increased expression:CD14++ monocytes (human)

NCBI chr 4:141,618,453...141,624,154
Ensembl chr 4:141,618,476...141,624,774

G

baculoviral IAP repeat-containing 5

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380

G

biliverdin reductase A

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 3:114,340,778...114,366,048
Ensembl chr 3:114,340,838...114,366,033

G

basic helix-loop-helix ARNT like 2

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 4:179,699,432...179,747,710
Ensembl chr 4:179,699,502...179,746,949

G

bMERB domain containing 1

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr10:1,779,834...1,946,586
Ensembl chr10:1,779,835...1,946,575

G

bone morphogenetic protein receptor type 1A

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616

G

BRCA2, DNA repair associated

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567

G

basigin

CTD Direct Evidence: therapeutic

NCBI chr 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387

G

Bruton tyrosine kinase

CTD Direct Evidence: marker/mechanism
protein:increased phosphorylation:blood, monocyte (human)

CTD
RGD

PMID:32503877 PMID:32503877

NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853

G

BUB1 mitotic checkpoint serine/threonine kinase

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 3:115,020,254...115,051,650
Ensembl chr 3:115,020,254...115,051,650

G

BUB1 mitotic checkpoint serine/threonine kinase B

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547

G

basic leucine zipper and W2 domains 2

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 6:52,828,069...52,888,599
Ensembl chr 6:52,827,661...52,888,628

G

similar to human chromosome 1 open reading frame 115

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr13:96,422,308...96,432,044
Ensembl chr13:96,422,302...96,432,068

G

similar to human chromosome 1 open reading frame 21

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr13:63,982,587...64,199,676
Ensembl chr13:63,990,592...64,199,596

G

similar to human chromosome 14 open reading frame 119

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr15:28,146,368...28,151,422
Ensembl chr15:28,146,333...28,155,180

G

core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1

mRNA:increased expression:bronchoalveolar lavage (human)

NCBI chr 4:35,930,981...35,966,100
Ensembl chr 4:35,928,104...35,961,831

G

similar to human chromosome 16 open reading frame 54

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr 1:181,702,447...181,705,128
Ensembl chr 1:181,702,503...181,705,835

G

similar to human chromosome 19 open reading frame 84

mRNA:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr 1:93,835,378...93,837,316
Ensembl chr 1:93,835,395...93,836,380

G

complement C1q A chain

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 5:149,133,635...149,136,482
Ensembl chr 5:149,133,636...149,136,534

G

complement C1q B chain

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 5:149,118,843...149,124,394
Ensembl chr 5:149,118,846...149,124,407

G

complement C1q C chain

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 5:149,127,412...149,130,757
Ensembl chr 5:149,127,415...149,131,017

G

complement C2

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr20:3,951,474...3,970,376
Ensembl chr20:3,951,474...3,976,505

G

similar to human chromosome 1 open reading frame 162

mRNA:increased expression:peripheral blood mononuclear cell (human)

NCBI chr 2:193,410,730...193,420,824
Ensembl chr 2:193,412,971...193,420,030

G

complement C3

severity

protein:increased expression:serum (human)
DNA:SNPs: :rs1047286,rs2230203,rs2230199(human)

RGD

PMID:32434211 PMID:32747830

RGD:30310238, RGD:38500238

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

complement C3a receptor 1

mRNA:increased expression:bronchoalveolar lavage (human)
mRNA:increased expression:peripheral blood mononuclear cell (human)

PMID:32228226 PMID:32407669

RGD:28912744 RGD:30296672

NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701

G

complement component 4 binding protein, alpha

severity

DNA:SNP: :rs61821041(human)

RGD

NCBI chr13:42,075,715...42,111,205
Ensembl chr13:42,075,717...42,111,205

G

complement component 4 binding protein, beta

severity

DNA:SNP: :rs45574833(human)

RGD

NCBI chr13:42,120,798...42,131,515
Ensembl chr13:42,120,798...42,131,817