Gram-Positive Bacterial Infections - 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:	Gram-Positive Bacterial Infections	go back to main search page
Accession:	DOID:9002823	browse the term
Definition:	Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method.
Synonyms:	exact_synonym:	Gram-Positive Bacterial Infection
	narrow_synonym:	Enterococcus faecalis infection
	primary_id:	MESH:D016908
	xref:	EFO:0000780

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Rat (395) Mouse (404) Human (1956) Chinchilla (350) Bonobo (389) Dog (390) Squirrel (352) Pig (383) Green Monkey (377) Naked Mole-rat (344) All
Genes (389)

Gram-Positive Bacterial Infections

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

inducible T cell costimulator

NCBI chr2B:91,168,998...91,193,808
Ensembl chr2B:209,307,938...209,332,734

G

toll like receptor 2

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

anthrax disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ANTXR cell adhesion molecule 2

NCBI chr 4:44,124,282...44,284,949
Ensembl chr 4:49,972,472...50,132,738

G

elastase, neutrophil expressed

protein:increased expression:plasma:

NCBI chr19:276,499...280,598

G

interleukin 1 beta

disease_progression

mRNA:decreased expression:multiple (mouse)

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

ribonuclease L

severity

NCBI chr 1:158,092,346...158,108,026
Ensembl chr 1:161,741,645...161,760,045

G

tumor necrosis factor

disease_progression

protein:decreased expression:multiple (mouse)

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

Bovine Tuberculosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 23 subunit alpha

NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617

G

interleukin 4

CTD Direct Evidence: therapeutic

NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581

Buruli ulcer disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 11 member 1

susceptibility

ClinVar Annotator: match by term: Buruli ulcer, susceptibility to

NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941

Clostridium difficile colitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 23 subunit alpha

severity

NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617

G

interleukin 33

severity
treatment

NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624

Clostridium Infections

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 27

associated with diarrhea;protein:increased expression:blood��serum, feces (human)

G

macrophage receptor with collagenous structure

exacerbates

NCBI chr2B:5,896,433...5,940,284
Ensembl chr2B:119,475,677...119,520,385

eumycotic mycetoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catechol-O-methyltransferase

severity

DNA:missense mutation:cds: (rs4680) (human)

NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387

G

C-X-C motif chemokine ligand 8

DNA:SNP:promoter:g.-251T>A (human)

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

toll like receptor 2

mRNA:increased expression:footpad:

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

toll like receptor 4

mRNA:decreased expression:footpad:

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

extrapulmonary tuberculosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD209 molecule

susceptibility

DNA:SNPs:promoter: -939G>A,-871A>G (rs735239) (human)

NCBI chr19:7,042,033...7,047,350

G

C-X-C motif chemokine ligand 8

protein:increased expression:serum (human)

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

epiregulin

susceptibility

DNA:SNP:exon 4: (rs2367707) (human)

NCBI chr 4:49,806,505...49,827,961
Ensembl chr 4:55,641,014...55,660,568

G

C-type lectin domain family 4 member M

susceptibility

DNA:repeats:exon 4: allele 6, allele 9 (human)

NCBI chr19:7,062,961...7,069,381

Furunculosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

agouti signaling protein

CTD Direct Evidence: marker/mechanism

NCBI chr20:30,583,038...30,592,726
Ensembl chr20:31,718,169...31,727,217

gas gangrene

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gelsolin

protein:decreased expression:blood serum (human)

NCBI chr 9:92,413,819...92,460,483
Ensembl chr 9:120,741,148...120,805,831

Immunodeficiency 107

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

OTU deubiquitinase with linear linkage specificity

susceptibility

ClinVar Annotator: match by term: Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection

PMID:25741868 PMID:27559085 PMID:28492532 PMID:35587511

NCBI chr 5:14,969,432...15,017,666
Ensembl chr 5:14,809,539...14,837,750

Immunodeficiency 117

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon regulatory factor 1

ClinVar Annotator: match by term: Immunodeficiency 117

NCBI chr 5:127,903,887...127,913,843
Ensembl chr 5:134,067,441...134,075,035

immunodeficiency 27A

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2 associated transcription factor 1

ClinVar Annotator: match by term: Immunodeficiency 27A

NCBI chr 6:134,023,195...134,054,507
Ensembl chr 6:138,115,451...138,137,108

G

caspase recruitment domain family member 11

ClinVar Annotator: match by term: IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE

NCBI chr 7:3,166,788...3,304,729
Ensembl chr 7:3,258,736...3,332,999

G

interferon gamma receptor 1

susceptibility

ClinVar Annotator: match by term: Immunodeficiency 27A

PMID:8960473 PMID:8960475 PMID:9142806 PMID:9389728 PMID:9497247 More...

NCBI chr 6:134,958,270...134,980,560
Ensembl chr 6:139,045,821...139,068,053

G

interferon gamma receptor 2

ClinVar Annotator: match by term: Immunodeficiency 27A

NCBI chr21:19,760,314...19,794,851
Ensembl chr21:33,135,048...33,169,137

G

interleukin 12 receptor subunit beta 1

ClinVar Annotator: match by term: Immunodeficiency 27A

PMID:19460324 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr19:17,536,709...17,547,665
Ensembl chr19:18,513,585...18,541,383

G

interleukin 20 receptor subunit alpha

ClinVar Annotator: match by term: Immunodeficiency 27A

NCBI chr 6:134,762,355...134,805,937
Ensembl chr 6:138,848,400...138,866,098

G

interleukin 22 receptor subunit alpha 2

ClinVar Annotator: match by term: Immunodeficiency 27A

NCBI chr 6:134,904,634...134,934,328
Ensembl chr 6:138,992,202...139,021,843

G

mitogen-activated protein kinase kinase kinase 5

ClinVar Annotator: match by term: Immunodeficiency 27A

NCBI chr 6:134,316,841...134,582,843
Ensembl chr 6:138,406,398...138,641,727

G

microtubule associated protein 7

ClinVar Annotator: match by term: Immunodeficiency 27A

NCBI chr 6:134,102,927...134,312,296

G

mitochondrial fission regulator 2

ClinVar Annotator: match by term: Immunodeficiency 27A

NCBI chr 6:133,995,679...134,014,947
Ensembl chr 6:138,084,908...138,104,740

G

phosphodiesterase 7B

ClinVar Annotator: match by term: Immunodeficiency 27A

NCBI chr 6:133,615,008...133,960,120
Ensembl chr 6:137,707,863...138,047,756

G

peroxisomal biogenesis factor 7

ClinVar Annotator: match by term: Immunodeficiency 27A

NCBI chr 6:134,582,933...134,675,388
Ensembl chr 6:138,672,179...138,762,830

G

solute carrier family 35 member D3

ClinVar Annotator: match by term: Immunodeficiency 27A

NCBI chr 6:134,683,339...134,686,731
Ensembl chr 6:138,771,529...138,774,860

immunodeficiency 31B

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin and armadillo repeat containing

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr2B:76,977,471...77,052,729
Ensembl chr2B:194,902,795...194,972,504

G

asparagine synthetase domain containing 1

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr2B:76,967,753...76,977,139
Ensembl chr2B:194,887,530...194,896,927

G

chromosome 13 C2orf88 homolog

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr2B:77,446,455...77,509,809
Ensembl chr2B:195,424,996...195,425,283

G

collagen type III alpha 1 chain

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956

G

collagen type V alpha 2 chain

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr2B:76,339,756...76,487,133
Ensembl chr2B:194,259,316...194,407,237

G

glutaminase

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr2B:78,182,117...78,267,071
Ensembl chr2B:196,098,910...196,183,323

G

3-hydroxyisobutyryl-CoA hydrolase

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr2B:77,510,938...77,652,911

G

inositol polyphosphate-1-phosphatase

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr2B:77,652,045...77,680,013
Ensembl chr2B:195,569,417...195,597,898

G

major facilitator superfamily domain containing 6

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr2B:77,716,691...77,804,302
Ensembl chr2B:195,658,295...195,720,548

G

myostatin

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr2B:77,364,927...77,452,426
Ensembl chr2B:195,283,903...195,290,922

G

NGFI-A binding protein 1

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr2B:77,949,948...77,994,888
Ensembl chr2B:195,868,102...195,911,497

G

nuclear envelope integral membrane protein 2

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr2B:77,792,444...77,836,649
Ensembl chr2B:195,727,677...195,744,992

G

ORMDL sphingolipid biosynthesis regulator 1

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr2B:77,076,432...77,090,531
Ensembl chr2B:194,996,437...195,009,102

G

O-sialoglycoprotein endopeptidase like 1

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr2B:77,052,726...77,070,877
Ensembl chr2B:194,972,537...194,989,328

G

PMS1 homolog 1, mismatch repair system component

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr2B:77,090,215...77,180,724
Ensembl chr2B:195,010,233...195,100,492

G

solute carrier family 40 member 1

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr2B:76,867,908...76,888,403
Ensembl chr2B:194,787,575...194,810,993

G

signal transducer and activator of transcription 1

ClinVar Annotator: match by term: IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Immunodeficiency 31B | ClinVar Annotator: match by term: Mycobacterial and viral infections, susceptibility to, autosomal recessive

PMID:9536098 PMID:12590259 PMID:16199547 PMID:16585605 PMID:17576681 More...

NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280

G

signal transducer and activator of transcription 4

ClinVar Annotator: match by term: Immunodeficiency 31B

PMID:22651901 PMID:28492532

NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011

G

WD repeat domain 75

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr2B:76,748,487...76,782,649
Ensembl chr2B:194,668,211...194,702,343

immunodeficiency 33

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily D member 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,275,165...143,295,283
Ensembl chr X:153,162,412...153,182,424

G

Rho GTPase activating protein 4

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,462,157...143,481,496
Ensembl chr X:153,349,050...153,367,709

G

ATPase plasma membrane Ca2+ transporting 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,068,171...143,133,479
Ensembl chr X:152,955,109...153,019,445

G

ATPase H+ transporting accessory protein 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,870,421...143,878,288
Ensembl chr X:153,740,751...153,748,621

G

arginine vasopressin receptor 2

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,458,693...143,461,945
Ensembl chr X:153,346,466...153,348,840

G

B cell receptor associated protein 31

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,265,920...143,274,956
Ensembl chr X:153,137,992...153,161,628

G

biglycan

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,045,298...143,059,892
Ensembl chr X:152,931,608...152,946,292

G

BRCA1/BRCA2-containing complex subunit 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:144,550,320...144,592,795
Ensembl chr X:154,389,283...154,428,669

G

cyclin Q

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,138,574...143,149,824

G

chloride intracellular channel 2

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:144,742,839...144,851,524
Ensembl chr X:154,581,649...154,641,515

G

C-X9-C motif containing 4

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:144,540,603...144,550,152
Ensembl chr X:154,379,485...154,388,932

G

dyskerin pseudouridine synthase 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:144,243,493...144,257,419
Ensembl chr X:154,084,412...154,098,475

G

deoxyribonuclease 1 like 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,842,920...143,851,795
Ensembl chr X:153,712,054...153,725,868

G

dual specificity phosphatase 9

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,192,599...143,201,647
Ensembl chr X:153,084,555...153,088,208

G

emerin

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,792,178...143,794,530

G

coagulation factor VIII

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:144,316,192...144,505,773
Ensembl chr X:154,156,873...154,341,317

G

coagulation factor VIII associated 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:144,366,123...144,367,842

G

coagulation factor VIII associated 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:144,925,422...144,927,166

G

FAM3 metabolism regulating signaling molecule A

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,947,867...143,957,966
Ensembl chr X:153,817,983...153,828,152

G

family with sequence similarity 50 member A

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,885,931...143,892,435

G

filamin A

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,799,088...143,825,282

G

FUN14 domain containing 2

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:144,505,703...144,534,871
Ensembl chr X:154,345,251...154,374,743

G

glucose-6-phosphate dehydrogenase

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674

G

GRB2 associated binding protein 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:144,150,062...144,232,216
Ensembl chr X:153,993,736...154,038,529

G

GDP dissociation inhibitor 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,878,690...143,885,251
Ensembl chr X:153,749,661...153,755,877

G

HAUS augmin like complex subunit 7

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:142,998,240...143,032,602
Ensembl chr X:152,881,714...152,907,620

G

host cell factor C1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,502,159...143,526,418
Ensembl chr X:153,389,859...153,412,999

G

isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,336,460...143,345,274
Ensembl chr X:153,222,309...153,231,135

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

ClinVar Annotator: match by term: Immunodeficiency 33

PMID:8169255 PMID:11047757 PMID:11179023 PMID:11484156 PMID:11590134 More...

NCBI chr X:143,988,720...144,010,078
Ensembl chr X:153,854,493...153,876,092

G

interleukin 9 receptor

ClinVar Annotator: match by term: Immunodeficiency 33

Ensembl chr X:155,373,324...155,386,631

G

interleukin 1 receptor associated kinase 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,560,802...143,570,185
Ensembl chr X:153,446,827...153,460,602

G

L1 cell adhesion molecule

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,412,303...143,437,090
Ensembl chr X:153,298,690...153,324,228

G

L antigen family member 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,919,519...143,921,001
Ensembl chr X:153,790,672...153,792,549

G

40-kDa huntingtin-associated protein

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:144,851,466...144,853,185

G

histone H2A-Bbd type 2/3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:144,364,612...144,365,333

G

histone H2A-Bbd type 2/3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:144,849,954...144,850,606

G

methyl-CpG binding protein 2

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,571,864...143,647,192
Ensembl chr X:153,465,204...153,527,854

G

MAGUK p55 scaffold protein 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:144,258,416...144,285,658
Ensembl chr X:154,099,463...154,126,575

G

mature T cell proliferation 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:144,542,898...144,550,059
Ensembl chr X:154,382,737...154,385,472

G

N-alpha-acetyltransferase 10, NatA catalytic subunit

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,484,008...143,489,904

G

PDZ domain containing 4

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,352,944...143,381,428
Ensembl chr X:153,240,182...153,267,874

G

plexin A3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,900,029...143,915,391
Ensembl chr X:153,772,700...153,786,167

G

plexin B3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,314,794...143,330,066
Ensembl chr X:153,200,971...153,215,909

G

pregnancy up-regulated nonubiquitous CaM kinase

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,220,029...143,224,659
Ensembl chr X:153,106,491...153,123,897

G

RAB39B, member RAS oncogene family

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:144,728,535...144,734,893
Ensembl chr X:154,567,361...154,573,715

G

renin binding protein

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,490,103...143,499,487
Ensembl chr X:153,376,847...153,386,214

G

ribosomal protein L10

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,839,739...143,844,026

G

solute carrier family 10 member 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,929,086...143,932,406
Ensembl chr X:153,800,354...153,803,653

G

solute carrier family 6 member 8

ClinVar Annotator: match by term: Immunodeficiency 33

G

small integral membrane protein 9

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:144,303,611...144,311,226
Ensembl chr X:154,144,752...154,151,903

G

sprouty RTK signaling antagonist 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:145,080,299...145,239,922
Ensembl chr X:155,131,596...155,132,462

G

SRSF protein kinase 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,331,213...143,336,426
Ensembl chr X:153,216,794...153,222,273

G

signal sequence receptor subunit 4

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,344,286...143,349,272
Ensembl chr X:153,230,137...153,235,124

G

tafazzin, phospholipid-lysophospholipid transacylase

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,853,054...143,863,491
Ensembl chr X:153,725,294...153,734,046

G

testis expressed 28

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,711,495...143,736,128

G

transketolase like 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,736,589...143,772,277

G

transmembrane protein 187

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,527,152...143,533,708
Ensembl chr X:153,419,802...153,420,587

G

trimethyllysine hydroxylase, epsilon

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:144,956,906...145,081,204

G

three prime repair exonuclease 2

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:142,995,051...142,998,178

G

ubiquitin like 4A

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:143,925,494...143,928,444

G

vesicle associated membrane protein 7

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:145,362,432...145,425,097
Ensembl chr X:155,257,185...155,320,215

G

VHL binding protein 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:144,685,548...144,709,136
Ensembl chr X:154,504,795...154,547,773

immunodeficiency 34

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome b-245 heavy chain

ClinVar Annotator: match by term: X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency

PMID:8634410 PMID:8655140 PMID:8900212 PMID:8916969 PMID:9536098 More...

NCBI chr X:30,230,394...30,267,379
Ensembl chr X:37,939,704...37,973,183

immunodeficiency 38

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ArfGAP with coiled-coil, ankyrin repeat and PH domains 3

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:46,883...62,642
Ensembl chr 1:1,249,719...1,259,645

G

actin related protein T2

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:1,680,590...1,682,020
Ensembl chr 1:2,818,917...2,820,050

G

agrin

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

Ensembl chr 1:936,000...966,808

G

ankyrin repeat domain 65

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:174,353...177,846

G

Rho guanine nucleotide exchange factor 16

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:2,121,058...2,148,391
Ensembl chr 1:3,258,664...3,275,809

G

ATPase family AAA domain containing 3C

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:209,176...227,683
Ensembl chr 1:1,407,391...1,425,563

G

aurora kinase A interacting protein 1

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:129,234...130,866
Ensembl chr 1:1,329,414...1,331,203

G

beta-1,3-galactosyltransferase 6

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

G

chromosome 1 C1orf159 homolog

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

Ensembl chr 1:997,350...1,034,180

G

C1q and TNF related 12

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

Ensembl chr 1:1,200,756...1,205,301

G

calmodulin like 6

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:619,689...623,308
Ensembl chr 1:1,778,101...1,780,581

G

coiled-coil domain containing 27

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:2,423,607...2,443,033
Ensembl chr 1:3,544,974...3,564,999

G

cyclin L2

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:142,530...155,377
Ensembl chr 1:1,344,346...1,355,361

G

cyclin dependent kinase 11B

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:399,997...423,094
Ensembl chr 1:1,558,423...1,579,305

G

centrosomal protein 104

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:2,485,711...2,529,745
Ensembl chr 1:3,606,659...3,648,832

G

cilia and flagella associated protein 74

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:627,950...715,982
Ensembl chr 1:1,785,550...1,856,062

G

ceramide-1-phosphate transfer protein

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:81,942...86,035
Ensembl chr 1:1,281,979...1,285,620

G

dishevelled segment polarity protein 1

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:92,469...106,748
Ensembl chr 1:1,292,052...1,301,008

G

FA core complex associated protein 20

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:900,616...922,845

G

fibronectin type III domain containing 10

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:359,080...361,223

G

gamma-aminobutyric acid type A receptor subunit delta

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:731,714...743,165
Ensembl chr 1:1,883,955...1,895,102

G

G protein subunit beta 1

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614

G

hes family bHLH transcription factor 4

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

G

hes family bHLH transcription factor 5

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:1,261,260...1,263,128

G

integrator complex subunit 11

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:66,280...81,854
Ensembl chr 1:1,266,581...1,281,430

G

ISG15 ubiquitin like modifier

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 More...

Ensembl chr 1:927,418...928,491

G

kelch like family member 17

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

Ensembl chr 1:859,730...864,476

G

ATPase family AAA domain-containing protein 3B

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:230,464...269,069

G

multiple epidermal growth factor-like domains protein 6

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:2,155,295...2,283,034

G

leucine rich repeat containing 47

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:2,451,747...2,468,043

G

MIB E3 ubiquitin protein ligase 2

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:379,326...395,041
Ensembl chr 1:1,539,634...1,557,517

G

membrane metalloendopeptidase like 1

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:1,323,914...1,362,178
Ensembl chr 1:2,462,621...2,504,213

G

matrix metallopeptidase 23B

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:396,629...399,103
Ensembl chr 1:1,554,922...1,557,325

G

MORN repeat containing 1

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:1,040,735...1,109,847
Ensembl chr 1:2,185,815...2,257,031

G

mitochondrial ribosomal protein L20

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:157,984...163,411
Ensembl chr 1:1,358,009...1,363,014

G

matrix remodeling associated 8

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:109,071...117,378

G

NAD kinase

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:462,860...485,203
Ensembl chr 1:1,619,270...1,642,269

G

NOC2 like nucleolar associated transcriptional repressor

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

Ensembl chr 1:843,551...857,535

G

pantothenate kinase 4 (inactive)

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:1,238,821...1,259,139
Ensembl chr 1:2,378,116...2,395,738

G

peroxisomal biogenesis factor 10

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

Ensembl chr 1:2,270,698...2,278,401

G

phospholipase C eta 2

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:1,171,623...1,235,592
Ensembl chr 1:2,337,005...2,374,695

G

pleckstrin homology domain containing N1

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

Ensembl chr 1:865,290...873,575

G

PR/SET domain 16

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:1,730,122...2,100,636
Ensembl chr 1:2,981,667...3,234,251

G

protein kinase C zeta

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:763,942...901,531
Ensembl chr 1:1,920,219...2,045,855

G

peroxiredoxin like 2B

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:1,319,718...1,324,409

G

pseudouridine synthase like 1

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:63,263...66,360
Ensembl chr 1:1,263,656...1,266,661

G

retention in endoplasmic reticulum sorting receptor 1

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

Ensembl chr 1:2,257,091...2,271,311

G

ring finger protein 223

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

G

sterile alpha motif domain containing 11

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

G

sodium channel epithelial 1 subunit delta

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:35,437...46,538
Ensembl chr 1:1,238,512...1,247,649

G

stromal cell derived factor 4

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

G

SKI proto-oncogene

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:944,428...1,029,695
Ensembl chr 1:2,091,620...2,174,080

G

solute carrier family 35 member E2B

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:429,954...458,052
Ensembl chr 1:1,581,352...1,613,835

G

small integral membrane protein 1 (Vel blood group)

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:2,444,126...2,447,455
Ensembl chr 1:3,565,845...3,569,137

G

SSU72 homolog, RNA polymerase II CTD phosphatase

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:301,984...335,634
Ensembl chr 1:1,463,184...1,494,797

G

taste 1 receptor member 3

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:88,514...92,505
Ensembl chr 1:1,287,841...1,292,094

G

transmembrane protein 240

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:295,102...301,161
Ensembl chr 1:1,456,731...1,462,005

G

transmembrane protein 52

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:623,603...626,169
Ensembl chr 1:1,780,877...1,782,570

G

transmembrane protein 88B

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:181,849...185,020

G

TNF receptor superfamily member 14

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:1,288,493...1,296,532
Ensembl chr 1:2,427,631...2,435,615

G

TNF receptor superfamily member 18

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

G

TNF receptor superfamily member 4

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

Ensembl chr 1:1,168,935...1,171,337

G

tumor protein p73

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206

G

tumor protein p63 regulated 1 like

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:2,296,601...2,301,687

G

tetratricopeptide repeat domain 34

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:1,374,206...1,454,684

G

tubulin tyrosine ligase like 10

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

Ensembl chr 1:1,131,691...1,155,349

G

ubiquitin conjugating enzyme E2 J2

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:8,756...28,672
Ensembl chr 1:1,211,502...1,231,530

G

von Willebrand factor A domain containing 1

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:192,970...198,099

G

WD repeat containing, antisense to TP73

ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More...

NCBI chr 1:2,302,331...2,320,946
Ensembl chr 1:3,425,648...3,444,318

immunodeficiency 69

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon gamma

ClinVar Annotator: match by term: Immunodeficiency 69

PMID:24033266 PMID:25741868 PMID:32163377

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

Immunodeficiency 86

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

signal peptide peptidase like 2A

ClinVar Annotator: match by term: Immunodeficiency 86

PMID:23472171 PMID:30127434

NCBI chr15:29,660,190...29,718,477
Ensembl chr15:47,997,304...48,055,239

Immunodeficiency 88

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

T-box transcription factor 21

ClinVar Annotator: match by term: Immunodeficiency 88

NCBI chr17:9,791,008...9,803,894
Ensembl chr17:9,973,920...9,985,660

inhalation anthrax

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-X-C motif chemokine ligand 10

disease_progression

NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606

G

C-X-C motif chemokine ligand 11

disease_progression

NCBI chr 4:48,169,954...48,172,455
Ensembl chr 4:54,007,818...54,010,336

G

C-X-C motif chemokine ligand 9

disease_progression

NCBI chr 4:48,198,478...48,204,658
Ensembl chr 4:54,036,342...54,042,502

Latent Tuberculosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human)

NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238

G

glycoprotein A33

mRNA, protein:decreased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human)

NCBI chr 1:142,473,352...142,512,364
Ensembl chr 1:146,259,431...146,298,105

G

interleukin 32

mRNA:increased expression:blood (human)

NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929

G

KIT proto-oncogene, receptor tyrosine kinase

mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human

NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

lepromatous leprosy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C3

severity

protein:decreased expression:serum

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

CD163 molecule

exacerbates

protein:increased expression:blood serum (human)

PMID:22851198 PMID:28355218

RGD:127345133 RGD:39939078

NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023

G

complement factor B

severity

NCBI chr 6:31,606,716...31,612,782

G

interleukin 27

ameliorates

mRNA:decreased expression:skin of body (human)

G

mannose binding lectin 2

susceptibility

DNA:SNP:cds:161G>A (human)

NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432

leprosy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

basic leucine zipper ATF-like transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:188,256,087...188,271,196
Ensembl chr 1:193,116,694...193,131,228

G

coiled-coil domain containing 122

ClinVar Annotator: match by term: Leprosy, susceptibility to, 1

NCBI chr13:25,005,797...25,049,506
Ensembl chr 3:199,012,301...199,055,911

G

coiled-coil domain containing 88B

CTD Direct Evidence: marker/mechanism

NCBI chr11:59,696,276...59,714,086
Ensembl chr11:63,042,147...63,058,434

G

CD8 subunit alpha

exacerbates

mRNA:increased expression:blood (human)

NCBI chr2A:86,832,559...86,855,772
Ensembl chr2A:88,377,722...88,382,635

G

C-X-C motif chemokine ligand 8

severity

DNA:SNP:promoter:g.-353T>A (rs4073) (human)

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

interleukin 10

ClinVar Annotator: match by term: Leprosy, susceptibility to, 1

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 17A

severity

mRNA:decreased expression:epidermis (human)

NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074

G

interleukin 19

ClinVar Annotator: match by term: Leprosy, susceptibility to, 1

NCBI chr 1:182,372,339...182,446,147
Ensembl chr 1:186,651,640...186,724,748

G

interleukin 23 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:66,408,839...66,502,535
Ensembl chr 1:68,293,514...68,386,815

G

laccase domain containing 1

ClinVar Annotator: match by term: Leprosy, susceptibility to, 1

NCBI chr13:25,047,306...25,063,644
Ensembl chr 3:198,998,153...199,012,230

G

leucine rich repeat kinase 2

ClinVar Annotator: match by term: Leprosy, susceptibility to, 1

PMID:26467025 PMID:28492532

NCBI chr12:48,343,621...48,488,337
Ensembl chr12:49,205,930...49,350,462

G

lymphotoxin alpha

susceptibility

ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to

PMID:15052269 PMID:17353895

NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375

G

mannose receptor C-type 1

ClinVar Annotator: match by term: Susceptibility to leprosy and multibacillary leprosy

NCBI chr10:18,128,280...18,230,438
Ensembl chr10:18,398,310...18,500,367

G

nucleotide binding oligomerization domain containing 2

ClinVar Annotator: match by term: Leprosy, susceptibility to, 1

NCBI chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773

G

presenilin associated rhomboid like

ClinVar Annotator: match by term: Leprosy, susceptibility to, 1

NCBI chr 3:180,862,434...180,921,197
Ensembl chr 3:189,032,816...189,088,036

G

PTEN induced kinase 1

ClinVar Annotator: match by term: Leprosy, susceptibility to, 1

NCBI chr 1:19,583,330...19,601,248
Ensembl chr 1:20,627,693...20,645,560

G

parkin RBR E3 ubiquitin protein ligase

ClinVar Annotator: match by term: LPRS2

PMID:10072423 PMID:11558785 PMID:11889248 PMID:12114481 PMID:12730996 More...

NCBI chr 6:159,293,016...160,679,106
Ensembl chr 6:164,314,990...165,678,770

G

RAB32, member RAS oncogene family

CTD Direct Evidence: marker/mechanism

NCBI chr 6:144,339,323...144,354,885

G

receptor interacting serine/threonine kinase 2

ClinVar Annotator: match by term: Leprosy, susceptibility to, 1

NCBI chr 8:86,447,216...86,480,511
Ensembl chr 8:88,398,468...88,456,268

G

solute carrier family 11 member 1

susceptibility

DNA:repeat:promoter (human)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms, haplotype (human)

PMID:10608779 PMID:15755200 PMID:16597321

RGD:5684957 RGD:5684972

NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941

G

toll like receptor 1

susceptibility

ClinVar Annotator: match by term: LPRS1 | ClinVar Annotator: match by term: Leprosy, susceptibility to, 5
DNA:snp:cds:p.I602S (human)

ClinVar
RGD
OMIM

PMID:17475868 PMID:17548585 PMID:18461142 PMID:19456232 PMID:23105135 More...

NCBI chr 4:33,119,485...33,133,541
Ensembl chr 4:38,979,006...38,981,366

G

toll like receptor 2

susceptibility

ClinVar Annotator: match by term: Leprosy, susceptibility to, 3

PMID:11476982 PMID:12646604 PMID:15726416 PMID:19111445 PMID:25741868 More...

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

toll like receptor 6

ClinVar Annotator: match by term: Leprosy, susceptibility to, 1

NCBI chr 4:33,153,151...33,174,053
Ensembl chr 4:39,009,103...39,011,490

G

tumor necrosis factor

susceptibility

DNA:SNP:promoter:−308G>A (human)

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF superfamily member 15

ClinVar Annotator: match by term: Leprosy, susceptibility to, 1

NCBI chr 9:85,881,800...85,904,191
Ensembl chr 9:114,249,472...114,265,441

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822

listeriosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Bruton tyrosine kinase

ameliorates

NCBI chr X:90,551,874...90,588,786
Ensembl chr X:100,684,017...100,725,187

G

CD8 subunit alpha

exacerbates
disease_progression

protein:decreased expression:spleen, liver (mouse)
protein:increased expression:liver (mouse)

PMID:2120126 PMID:20348006

RGD:124715456 RGD:124715458

NCBI chr2A:86,832,559...86,855,772
Ensembl chr2A:88,377,722...88,382,635

G

CCAAT enhancer binding protein beta

severity

NCBI chr20:46,533,163...46,535,282

G

CYLD lysine 63 deubiquitinase

CTD Direct Evidence: marker/mechanism

NCBI chr16:31,004,393...31,064,546
Ensembl chr16:49,882,751...49,942,629

G

interleukin 15

protein:increased expression:epithelial cell, intestine

NCBI chr 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622

G

interleukin 17D

severity

NCBI chr13:2,030,234...2,049,965
Ensembl chr13:20,343,537...20,361,535

G

interleukin 1 receptor antagonist

susceptibility

NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839

G

interleukin 23 subunit alpha

PMID:19923464 PMID:22966045

RGD:39457955 RGD:39457958

NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617

G

interleukin 33

treatment

NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624

G

metallothionein-2

CTD Direct Evidence: marker/mechanism

NCBI chr16:36,894,853...36,895,826
Ensembl chr16:56,007,922...56,028,093

G

metallothionein 1X

CTD Direct Evidence: marker/mechanism

NCBI chr16:36,959,854...36,961,632
Ensembl chr16:56,092,218...56,093,976

G

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

NCBI chr 1:8,418,570...8,495,435
Ensembl chr 1:9,686,208...9,724,633

G

receptor interacting serine/threonine kinase 3

exacerbates

NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821

G

stimulator of interferon response cGAMP interactor 1

PMID:21098106 PMID:23378430

RGD:39128219 RGD:39128233

NCBI chr 5:134,845,689...134,852,938
Ensembl chr 5:140,967,399...140,973,846

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:16177108 PMID:21699557

NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822

Meningeal Tuberculosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 4 receptor

protein:decreased expression:serum

Ensembl chr16:27,642,702...27,737,445

G

tumor necrosis factor

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

Multibacillary Leprosy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gamma-glutamyltransferase 1

protein:increased activity:blood:

NCBI chr22:5,424,334...5,469,705

G

solute carrier family 11 member 1

DNA:insertion/deletion:3' utr (human)

NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941

multidrug-resistant tuberculosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box P3

mRNA:increased expression:peripheral blood:

NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029

G

HLA class II histocompatibility antigen, DQ beta 1 chain

DNA:polymorphisms (human)

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

Mycobacterium avium complex disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adiponectin, C1Q and collagen domain containing

associated with pulmonary diseases; protein:increased expression:serum

NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885

G

C-X-C motif chemokine ligand 8

protein:increased expression:blood plasma, erythrocyte (human)

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

interleukin 17A

NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074

G

interleukin 32

protein:increased expression:lung, respiratory epithelial cell (human)

NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929

G

tumor necrosis factor

associated with HIV Infections

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

Mycobacterium Infections

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

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

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

CD36 molecule (CD36 blood group)

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

interferon gamma

associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:lung

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

interferon gamma receptor 1

DNA: missense mutations: cds: I87T; V63G
DNA: mutation

PMID:15589309 PMID:21266457

RGD:6480268 RGD:6480429

NCBI chr 6:134,958,270...134,980,560
Ensembl chr 6:139,045,821...139,068,053

G

interleukin 22

NCBI chr12:65,757,069...65,762,418
Ensembl chr12:68,542,076...68,547,421

G

interleukin 32

ameliorates

human gene in a mouse model

NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929

G

receptor interacting serine/threonine kinase 3

ameliorates

NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821

G

solute carrier family 11 member 1

DNA:point mutation (mouse)

NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941

G

signal transducer and activator of transcription 1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280

G

TNF receptor superfamily member 8

CTD Direct Evidence: therapeutic

NCBI chr 1:10,813,111...10,893,005
Ensembl chr 1:12,029,038...12,108,495

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:15316035 PMID:18941223

NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822

Nontuberculous Mycobacterium Infections

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CF transmembrane conductance regulator

susceptibility

DNA:mutations: :
DNA:SNP:cds:rs113857788(p.Q1352H)(human)

PMID:18703788 PMID:19858235 PMID:23514810

RGD:36049751 RGD:4140395 RGD:4140430

NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864

G

interferon gamma receptor 1

susceptibility

DNA:nonsense mutation
ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection

PMID:8960473 PMID:9389728 PMID:9536098 PMID:9806040 PMID:10192386 More...

NCBI chr 6:134,958,270...134,980,560
Ensembl chr 6:139,045,821...139,068,053

G

interleukin 12B

susceptibility

disseminated BCG and Salmonella enteritidis infection, OMIM:209950 DNA:deletion:intron,exon:homozygous 4.4kb deletion encompassing exons 4 and 5 and associated introns
ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Recessive

NCBI chr 5:154,706,467...154,722,231
Ensembl chr 5:161,325,303...161,335,381

G

interleukin 18

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

interleukin 1 receptor type 1

Ensembl chr2A:103,193,131...103,230,005

G

interleukin 20 receptor subunit alpha

ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection

PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183

NCBI chr 6:134,762,355...134,805,937
Ensembl chr 6:138,848,400...138,866,098

G

interleukin 22 receptor subunit alpha 2

ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection

PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183

NCBI chr 6:134,904,634...134,934,328
Ensembl chr 6:138,992,202...139,021,843

G

oligodendrocyte transcription factor 3

ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection

PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183

NCBI chr 6:135,245,422...135,248,355
Ensembl chr 6:139,333,938...139,334,756

G

peroxisomal biogenesis factor 7

ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection

PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183

NCBI chr 6:134,582,933...134,675,388
Ensembl chr 6:138,672,179...138,762,830

G

solute carrier family 35 member D3

ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection

PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183

NCBI chr 6:134,683,339...134,686,731
Ensembl chr 6:138,771,529...138,774,860

G

signal transducer and activator of transcription 1

susceptibility

DNA:transition: ; 2116T>C
ClinVar Annotator: match by term: Familial Atypical Mycobacteriosis, Autosomal Dominant

NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280

G

TNF alpha induced protein 3

ClinVar Annotator: match by term: Disseminated atypical mycobacterial infection

PMID:8960473 PMID:9806040 PMID:26642243 PMID:28492532 PMID:29572183

NCBI chr 6:135,617,465...135,634,085
Ensembl chr 6:139,705,255...139,720,819

ocular tuberculosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 10

protein:increased expression:aqueous humor

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

Paratuberculosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C1r

CTD Direct Evidence: marker/mechanism

NCBI chr12:7,211,162...7,222,673
Ensembl chr12:7,126,723...7,137,895

G

complement C3

CTD Direct Evidence: marker/mechanism

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

coagulation factor II, thrombin

CTD Direct Evidence: marker/mechanism

NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157

G

gelsolin

CTD Direct Evidence: marker/mechanism

NCBI chr 9:92,413,819...92,460,483
Ensembl chr 9:120,741,148...120,805,831

G

transferrin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476

Paucibacillary Leprosy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gamma-glutamyltransferase 1

protein:increased activity:blood:

NCBI chr22:5,424,334...5,469,705

pleural tuberculosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase

protein:increased activity:pleural fluid:
protein:increased activity:serum:
protein:increased expression:serum:

PMID:1689629 PMID:1818842 PMID:18357489 PMID:21860532

RGD:152995280 RGD:152995288 RGD:152995292 RGD:152998934

NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868

G

adenosine deaminase 2

treatment

NCBI chr22:606,220...648,902
Ensembl chr22:16,042,295...16,081,949

G

C-C motif chemokine ligand 22

NCBI chr16:37,631,861...37,640,208
Ensembl chr16:56,765,367...56,771,213

G

C-C motif chemokine receptor 2

NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312

G

C-C motif chemokine receptor 5

protein:increased expression:pleural fluid, natural killer cell (human)

NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379

G

forkhead box P3

disease_progression

associated with human immunodeficiency virus infectious disease;

NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029

G

interleukin 1 beta

DNA:polymorphism: :3953T>C (human)

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 1 receptor antagonist

DNA:repeat (human)

NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839

G

interleukin 27

exacerbates

associated with Pleural Effusion;protein:increased expression:pleural fluid (human)
protein:increased expression:alveolar system (human)

PMID:23962500 PMID:25753767 PMID:28844060 PMID:31819557

RGD:126790505 RGD:126790517 RGD:126790523 RGD:126790549

G

interleukin 33

protein:increased expression:pleural fluid:

NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624

G

matrix metallopeptidase 9

protein:increased expression:pleura:

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

toll like receptor 4

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

G

tenascin C

protein:increased expression:pleura

NCBI chr 9:86,125,672...86,222,804
Ensembl chr 9:114,486,778...114,584,299

Pneumococcal Infections

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement factor H

exacerbates

NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521

G

interleukin 17A

susceptibility

associated with Bronchiolitis;DNA:SNP:promoter:rs2275913 (human)

NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074

G

interleukin 27

associated with influenza A;protein:increased expression:lung (mouse)

G

NFKB inhibitor alpha

susceptibility

DNA:SNPs:enhancers: (rs3138053, rs2233406) (human)
DNA:SNP: :(rs1050851) (human)

PMID:17463416 PMID:29407193

RGD:127285388 RGD:127285391

NCBI chr14:16,155,331...16,158,588

G

TIR domain containing adaptor protein

CTD Direct Evidence: marker/mechanism

NCBI chr11:121,100,558...121,112,844
Ensembl chr11:125,018,064...125,022,309

Pneumococcal Meningitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase domain 17

treatment

NCBI chr2A:9,478,080...9,545,363
Ensembl chr2A:9,641,201...9,708,054

G

aquaporin 4

treatment

protein:increased expression:brain:

NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919

G

ATM serine/threonine kinase

ameliorates

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

cathelicidin antimicrobial peptide

protein:increased expression:brain, coronal section (rat)

NCBI chr 3:48,137,785...48,139,893
Ensembl chr 3:49,222,110...49,224,250

G

cysteinyl leukotriene receptor 1

disease_progression

mRNA, protein:increased expression:brain (rat)

NCBI chr X:67,412,410...67,469,366
Ensembl chr X:77,524,455...77,525,468

G

cysteinyl leukotriene receptor 2

mRNA, protein:increased expression:brain (rat)

NCBI chr13:29,796,598...29,853,676
Ensembl chr13:48,551,757...48,552,797

G

indoleamine 2,3-dioxygenase 1

treatment

NCBI chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352

G

interleukin 6

treatment

protein:increased expression:brain

PMID:8943431 PMID:11581077 PMID:25443778

RGD:11060264 RGD:11062107 RGD:9831197

NCBI chr 7:23,415,922...23,420,767

G

galectin 3

mRNA, protein:increased expression:brain

NCBI chr14:35,715,850...35,732,263
Ensembl chr14:53,990,023...54,006,412

G

growth-regulated alpha protein

NCBI chr 4:50,325,248...50,327,165
Ensembl chr 4:56,153,899...56,159,474

G

galectin-9

NCBI chr17:29,125,460...29,145,028
Ensembl chr17:29,623,398...29,642,959

G

macrophage receptor with collagenous structure

protein:increased expression:meninges, astrocyte

NCBI chr2B:5,896,433...5,940,284
Ensembl chr2B:119,475,677...119,520,385

G

matrix metallopeptidase 2

treatment

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

matrix metallopeptidase 9

treatment

protein:increased expression:cerebrospinal fluid

PMID:17371820 PMID:24419461

RGD:1642043 RGD:8657111

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

nucleotide binding oligomerization domain containing 2

mRNA, protein:increased expression:brain

NCBI chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773

G

neurotrophic receptor tyrosine kinase 2

mRNA:increased expression:brain

NCBI chr 9:39,663,986...40,208,770
Ensembl chr 9:84,021,837...84,372,678

G

RELA proto-oncogene, NF-kB subunit

protein:increased expression:brain, nucleus

NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868

G

serpin family G member 1

treatment

NCBI chr11:52,838,502...52,855,781
Ensembl chr11:56,309,686...56,326,639

G

toll like receptor 2

mRNA:increased expression: :

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

toll like receptor 4

mRNA:increased expression: :

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

G

tumor necrosis factor

disease_progression

protein:increased expression:brain
mRNA:increased expression:brain (rat)

PMID:25443778 PMID:31933824

RGD:40903068 RGD:9831197

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

Pneumococcal Pneumonia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activation induced cytidine deaminase

NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917

G

arachidonate 5-lipoxygenase

NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016

G

Bruton tyrosine kinase

ameliorates

NCBI chr X:90,551,874...90,588,786
Ensembl chr X:100,684,017...100,725,187

G

complement C3

disease_progression

associated with Liver Cirrhosis, Experimental;protein:decreased expression:respiratory system fluid/secretion
protein:decreased expression:serum

PMID:20405 PMID:15972516 PMID:17956621

RGD:5129509 RGD:5129523 RGD:5130163

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

complement C5

severity

NCBI chr 9:92,069,574...92,202,513
Ensembl chr 9:120,426,354...120,523,856

G

C-C motif chemokine ligand 5

susceptibility

NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172

G

CD14 molecule

NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966

G

chitinase 3 like 1

protein:increased secretion:serum (human)

NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229

G

corticotropin releasing hormone receptor 1

NCBI chr17:11,261,435...11,313,630
Ensembl chr17:11,650,057...11,701,208

G

corticotropin releasing hormone receptor 2

NCBI chr 7:31,265,619...31,313,902
Ensembl chr 7:31,386,026...31,434,220

G

C-reactive protein

disease_progression

NCBI chr 1:135,062,102...135,064,402

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

C-X-C motif chemokine ligand 9

protein:increased expression:lung

NCBI chr 4:48,198,478...48,204,658
Ensembl chr 4:54,036,342...54,042,502

G

heme oxygenase 1

associated with influenza;protein:increased expression:lung

NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063

G

interleukin 15

protein:increased expression:alveolar macrophage, bronchial epithelial cell

NCBI chr 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622

G

interleukin 15 receptor subunit alpha

NCBI chr10:5,993,583...6,019,967

G

interleukin 17A

NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074

G

interleukin 18

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

interleukin 6

NCBI chr 7:23,415,922...23,420,767

G

leptin

NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519

G

leptin receptor

NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768

G

growth-regulated alpha protein

protein:increased expression:respiratory system fluid/secretion

NCBI chr 4:50,325,248...50,327,165
Ensembl chr 4:56,153,899...56,159,474

G

mitogen-activated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335

G

mitogen-activated protein kinase 3

CTD Direct Evidence: marker/mechanism

Ensembl chr16:30,489,362...30,498,017

G

MBL associated serine protease 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:9,787,565...9,810,276
Ensembl chr 1:11,009,760...11,030,734

G

mannose binding lectin 2

no_association

DNA:polymorphisms:5' utr, exon:multiple (human)
DNA:mutations:5' utr, exon:multiple (human)

PMID:12047967 PMID:18641104

RGD:4889477 RGD:4889478

NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432

G

nitric oxide synthase 2

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

G

phosphatase and tensin homolog

ameliorates

myeloid knockout

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

surfactant protein D

severity

NCBI chr10:76,275,147...76,318,952
Ensembl chr10:78,965,252...78,974,181

G

sirtuin 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:64,368,878...64,401,684
Ensembl chr10:66,681,598...66,715,069

G

stimulator of interferon response cGAMP interactor 1

NCBI chr 5:134,845,689...134,852,938
Ensembl chr 5:140,967,399...140,973,846

G

toll like receptor 2

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

tumor necrosis factor

associated with influenza;protein:increased expression:lung

PMID:9032201 PMID:17348295

RGD:4143479 RGD:4145366

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

triggering receptor expressed on myeloid cells 1

ameliorates

PMID:19596984 PMID:24752755

RGD:126928121 RGD:127229903

NCBI chr 6:40,861,283...40,874,446
Ensembl chr 6:42,163,337...42,183,091

pulmonary tuberculosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1

treatment

DNA:SNP: :2677G>A (human)

NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238

G

adenosine deaminase

protein:increased expression:plasma, respiratory system fluid/secretion
protein:increased activity:blood, pulmonary alveolar duct
protein:increased activity:sputum:

PMID:2212911 PMID:12194640 PMID:19460251

RGD:152995271 RGD:152995390 RGD:5128854

NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868

G

adenosine deaminase 2

protein:increased activity:sputum:

NCBI chr22:606,220...648,902
Ensembl chr22:16,042,295...16,081,949

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:plasma

NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885

G

AKT serine/threonine kinase 1

susceptibility

DNA:SNP,haplotype:intron: IVS3+18 C/C (human)

NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756

G

arachidonate 5-lipoxygenase

susceptibility

DNA:polymorphism, repeat:promoter, exon:g.760G>A (human)

NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016

G

ArfGAP with SH3 domain, ankyrin repeat and PH domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:126,688,608...127,080,662
Ensembl chr 8:129,418,796...130,021,261

G

activating transcription factor 3

mRNA,protein:increased expression:lung

NCBI chr 1:188,176,728...188,188,842
Ensembl chr 1:193,036,793...193,049,150

G

complement C3

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

C-C motif chemokine ligand 1

susceptibility

mRNA:increased expression:lung, dendritic cell
DNA:SNP: :multiple (human)

PMID:18703681 PMID:19057661

RGD:4891408 RGD:4891409

NCBI chr17:22,425,022...22,430,243
Ensembl chr17:22,719,425...22,722,341

G

C-C motif chemokine ligand 19

mRNA:increased expression:lung

NCBI chr 9:34,525,820...34,527,628
Ensembl chr 9:35,334,353...35,336,108

G

C-C motif chemokine ligand 2

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :-2518A>G (human)

PMID:16352737 PMID:18940815 PMID:20111728

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

C-C motif chemokine ligand 5

susceptibility

DNA:snps:5' utr:g.-403G>A rs2280788, g.-28C>G rs2107538 (human)
mRNA:increased expression:lung (human)

PMID:15128813 PMID:19335954

RGD:4891879 RGD:4892112

NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172

G

C-C motif chemokine receptor 2

disease_progression

NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312

G

C-C motif chemokine receptor 5

protein:decreased expression:blood, T cell (human)

NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379

G

CD14 molecule

susceptibility

protein:increased expression:monocyte, serum
DNA:polymorphism:promoter:c. -159C>T (human)

NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966

G

CD163 molecule

exacerbates

protein:increased expression:blood plasma, CD14-positive monocyte (human)
protein:increased expression:blood serum (human)

PMID:27684274 PMID:27685837

RGD:127285801 RGD:127345136

NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023

G

CD1d molecule

susceptibility

DNA:SNPS, haplotype:intron, enhancer: (rs859009,rs859010, rs973742) (human)

NCBI chr 1:133,549,258...133,557,752
Ensembl chr 1:137,341,690...137,348,173

G

CD209 molecule

susceptibility

associated with HIV Seropositivity; DNA:SNP:promoter: -336A>G (rs4804803) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:promoter:-139G>A, -336A>G, -871A>G (rs2287886,rs4804803,rs735239) (human)

PMID:16379498 PMID:19126442 PMID:24874302

RGD:39938981 RGD:39939062

NCBI chr19:7,042,033...7,047,350

G

CD274 molecule

protein:increased expression:Tcell, B cell, monocyte

NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402

G

CD36 molecule (CD36 blood group)

susceptibility

DNA:SNPs: :rs1194182, rs10499859(human)

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

CD86 molecule

protein:decreased expression:sputum, macrophage (human)

NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339

G

C-reactive protein

severity

associated with HIV Infections

PMID:21197091 PMID:21219690

RGD:5131284 RGD:5131287

NCBI chr 1:135,062,102...135,064,402

G

C-X-C motif chemokine ligand 10

treatment

NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606

G

C-X-C motif chemokine ligand 6

susceptibility

mRNA:increased expression:lung

NCBI chr 4:50,357,643...50,359,822
Ensembl chr 4:56,189,961...56,192,402

G

C-X-C motif chemokine ligand 8

exacerbates

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

PMID:16001981 PMID:27434276

RGD:150523784 RGD:39939055

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

DNA damage inducible transcript 3

mRNA,protein:increased expression:lung

NCBI chr12:31,406,332...31,410,293
Ensembl chr12:31,664,743...31,668,701

G

epidermal growth factor receptor

disease_progression

associated with lung adenocarcinoma;

PMID:22173705 PMID:29621876

RGD:38599162 RGD:38599176

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

epiregulin

susceptibility

DNA:SNP:exon 4: (rs2367707) (human)

NCBI chr 4:49,806,505...49,827,961
Ensembl chr 4:55,641,014...55,660,568

G

forkhead box P3

susceptibility

DNA:polymorphism:promoter:-924A>G(human)

NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029

G

1,4-alpha-glucan branching enzyme 1

DNA:SNP:intron:rs2307058 (human)

NCBI chr 3:81,587,604...81,861,214
Ensembl chr 3:83,632,215...83,904,546

G

glutathione S-transferase mu 1

susceptibility

associated with GSTT1 null deletion; DNA:deletion: :

Ensembl chr 1:127,979,238...128,010,411

G

hepatitis A virus cellular receptor 2

NCBI chr 5:152,486,125...152,514,004
Ensembl chr 5:159,108,915...159,131,007

G

indoleamine 2,3-dioxygenase 1

treatment

NCBI chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352

G

interleukin 13

mRNA:increased expression:Leukocytes, Mononuclear

NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548

G

interleukin 15

mRNA, protein:increased expression:lung

NCBI chr 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622

G

interleukin 18

protein:increased expression:serum

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

interleukin 1 alpha

NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801

G

interleukin 1 beta

severity
susceptibility

protein:increased expression:lung
protein:increased expression:bronchioalveolar lavage fluid (human)
DNA:polymorphism: :3953T>C (human)

PMID:10543265 PMID:10631206 PMID:16634865

RGD:4143179 RGD:4143180 RGD:5147843

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 1 receptor like 1

G

interleukin 1 receptor antagonist

severity

protein:increased expression:lung, serum

PMID:10543265 PMID:10631206 PMID:14619382

RGD:4143174 RGD:4143179 RGD:4143180

NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839

G

interleukin 23 subunit alpha

mRNA:increased expression:lung (mouse)

PMID:11801672 PMID:16002675 PMID:20624887 PMID:21156751

RGD:39457949 RGD:39457953 RGD:39458036 RGD:39458038

NCBI chr12:32,575,321...32,576,856
Ensembl chr12:32,828,902...32,830,617

G

interleukin 27

exacerbates

DNA:SNPs:promoter, exon:-964A>G, 2905T>G (human)
DNA:SNPs:promoter,exons:-964A>G, 2905T>G, 4730T>C (rs153109, rs17855750, rs181206) (human)

PMID:30948177 PMID:31949807

RGD:126790508 RGD:39456132

G

interleukin 27 receptor subunit alpha

Ensembl chr19:14,323,618...14,343,627

G

interleukin 32

treatment

NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929

G

interleukin 33

NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624

G

interleukin 4

severity

NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581

G

interleukin 4 receptor

protein:decreased expression:serum

Ensembl chr16:27,642,702...27,737,445

G

interleukin 6

NCBI chr 7:23,415,922...23,420,767

G

interleukin 6 receptor

protein:decreased expression:T cell

NCBI chr 1:129,761,914...129,824,386
Ensembl chr 1:133,374,078...133,433,089

G

interferon regulatory factor 1

NCBI chr 5:127,903,887...127,913,843
Ensembl chr 5:134,067,441...134,075,035

G

inter-alpha-trypsin inhibitor heavy chain 4

protein:increased expression:urine

NCBI chr 3:52,754,664...52,774,867
Ensembl chr 3:53,980,668...53,998,038

G

Jun proto-oncogene, AP-1 transcription factor subunit

protein:decreased phosphorylation:macrophage, nucleus

NCBI chr 1:58,042,794...58,045,536

G

lipocalin 2

disease_progression
exacerbates

PMID:19050270 PMID:30534124

RGD:126779558 RGD:126779565

NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798

G

HLA class II histocompatibility antigen, DQ beta 1 chain

disease_progression
susceptibility

DNA:polymorphisms (human)
DNA:polymorphism: :HLA-DQB1*3:03(human)
DNA:polymorphism:cds:HLA-DQB1*0201(human)

PMID:19230186 PMID:24024195 PMID:28612994

RGD:36049753 RGD:36049765 RGD:5147614

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

G

uncharacterized LOC100974886

disease_progression

NCBI chr 4:50,092,989...50,095,541
Ensembl chr 4:55,925,562...55,986,555

G

C-type lectin domain family 4 member M

susceptibility

DNA:repeats:exon 4: allele 4, allele 5, allele 9 (human)

PMID:17224292 PMID:19770268 PMID:24874302

RGD:39938981 RGD:39938983 RGD:39938987

NCBI chr19:7,062,961...7,069,381

G

cytochrome b-245 light chain

no_association

DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human)

NCBI chr16:69,356,396...69,364,225
Ensembl chr16:89,016,349...89,024,719

G

HLA class II histocompatibility antigen, DP beta 1 chain

NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387

G

pulmonary surfactant-associated protein A1

susceptibility

DNA:SNP:intron:1416C>T (human)
DNA:SNPs:exons:307G>A, 776C>T (human)

PMID:12476938 PMID:16292672

RGD:4144874 RGD:4144875

NCBI chr10:76,571,312...76,575,820

G

lymphotoxin alpha

susceptibility

DNA:polymorphism:intron:252G>A (human)

NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375

G

macrophage receptor with collagenous structure

susceptibility

DNA:SNP: :rs12998782(human)
DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human)
DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human)

PMID:23617307 PMID:27853145 PMID:28693442

RGD:41412192 RGD:41412194 RGD:41412195

NCBI chr2B:5,896,433...5,940,284
Ensembl chr2B:119,475,677...119,520,385

G

mannose binding lectin 2

DNA:polymorphisms:5' utr, exon:multiple (human)

NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432

G

macrophage migration inhibitory factor

susceptibility

DNA:SNP: :rs755622 (human)

NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009

G

matrix metallopeptidase 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354

G

matrix metallopeptidase 7

CTD Direct Evidence: marker/mechanism

NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099

G

matrix metallopeptidase 8

CTD Direct Evidence: marker/mechanism

NCBI chr11:97,650,408...97,663,731
Ensembl chr11:101,143,268...101,156,736

G

matrix metallopeptidase 9

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

N-acetyltransferase 2

susceptibility

NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327

G

NFKB inhibitor alpha

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

NCBI chr14:16,155,331...16,158,588

G

nucleotide binding oligomerization domain containing 2

susceptibility

DNA:SNPs:CDs:p.P268S, R702W, A725G (human)

NCBI chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773

G

nitric oxide synthase 2

DNA:SNPs:multiple (human)

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

G

programmed cell death 1

treatment

protein:increased expression:Tcell, B cell, monocyte

NCBI chr12:130,849,353...130,858,776

G

programmed cell death 1 ligand 2

protein:increased expression:Tcell, B cell, monocyte

NCBI chr 9:5,313,071...5,391,676
Ensembl chr 9:5,514,449...5,575,688

G

plasminogen activator, urokinase receptor

severity

NCBI chr19:40,588,100...40,616,479
Ensembl chr19:49,197,341...49,222,561
Ensembl chr19:49,197,341...49,222,561

G

protein tyrosine phosphatase non-receptor type 22

DNA:SNPs:cds:788G>A, 1858C>T (human)

NCBI chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830

G

solute carrier family 11 member 1

susceptibility

DNA:polymorphism:intron (human)
DNA:deletion:3'UTR:

PMID:21169917 PMID:24024195

RGD:36049753 RGD:5684974

NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941

G

transporter 1, ATP binding cassette subfamily B member

associated with HIV Infections;

NCBI chr 6:32,414,665...32,423,488
Ensembl chr 6:33,530,171...33,538,978

G

transporter 2, ATP binding cassette subfamily B member

susceptibility

DNA:polymorphism: :

NCBI chr 6:32,394,586...32,408,297
Ensembl chr 6:33,507,332...33,523,750

G

toll like receptor 1

mRNA:increased expression:blood

NCBI chr 4:33,119,485...33,133,541
Ensembl chr 4:38,979,006...38,981,366

G

toll like receptor 2

susceptibility

DNA:polymorphism:intron (human)
mRNA, protein:increased expression:blood, T cell
DNA:polymorphisms: :multiple (human)
DNA:SNP: :rs1816702 (human)

PMID:19552525 PMID:19723394 PMID:20113509 PMID:20298136

RGD:4145304 RGD:4145320 RGD:4145323 RGD:4145355

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

toll like receptor 4

severity
susceptibility

protein:increased expression:monocyte
DNA:polymorphisms:cds: p. D299F, T399I (human)
DNA:SNP:intron: rs5030729 (human)

PMID:18008256 PMID:19575238 PMID:20403143

RGD:4144106 RGD:4144122 RGD:4144205

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

G

tumor necrosis factor

susceptibility
disease_progression

DNA:polymorphisms::c.-857 C>T, c. -863 A>C (human)

PMID:9176116 PMID:18212516 PMID:20650298

RGD:4142835 RGD:4143388 RGD:4143395

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

triggering receptor expressed on myeloid cells 1

disease_progression

NCBI chr 6:40,861,283...40,874,446
Ensembl chr 6:42,163,337...42,183,091

G

vitamin D receptor

susceptibility

DNA:SNPs:promoter, 3' UTR (human)
DNA:SNP (human)
DNA:SNPs (human)
DNA:SNPs:5' UTR (human)

PMID:15295697 PMID:17236578 PMID:18231846 PMID:18397302 PMID:20231985

RGD:4889830 RGD:4889842 RGD:4889845 RGD:4889849 RGD:4889853

NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192

renal tuberculosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 4 receptor

protein:decreased expression:serum
DNA:polymorphism:cds:p.I50V (human)

PMID:19548368 PMID:21251883

RGD:5128510 RGD:7207069

Ensembl chr16:27,642,702...27,737,445

rheumatic fever

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GC vitamin D binding protein

NCBI chr 4:52,431,196...52,473,762
Ensembl chr 4:58,729,236...58,792,073

G

intercellular adhesion molecule 1

protein:increased expression:serum

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

HLA class II histocompatibility antigen, DQ beta 1 chain

DNA:polymorphisms, haplotypes:multiple

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

rheumatic heart disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin alpha 2, smooth muscle

mRNA, protein:increases expression:mitral valve, heart (rat)

NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080

G

BCL2 associated X, apoptosis regulator

mRNA:increases expression:mitral valve, heart (rat)

NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468

G

CD209 molecule

protein:increased expression:left cardiac atrium, dendritic cell (human)

NCBI chr19:7,042,033...7,047,350

G

CD36 molecule (CD36 blood group)

mRNA:decreased expression:blood, mononuclear cell

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

collagen type I alpha 1 chain

mRNA, protein:increases expression:mitral valve, heart (rat)

NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

G

collagen type III alpha 1 chain

mRNA:increases expression:mitral valve, heart (rat)

NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956

G

ficolin 3

ClinVar Annotator: match by term: Rheumatic heart disease

NCBI chr 1:26,620,373...26,636,424
Ensembl chr 1:27,676,866...27,683,861

G

glyceraldehyde-3-phosphate dehydrogenase

NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729

G

insulin like growth factor 1

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

interleukin 10

no_association

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

inhibin subunit beta A

mRNA, protein:increases expression:mitral valve, heart (rat)

NCBI chr 7:42,538,591...42,556,578
Ensembl chr 7:42,580,730...42,595,097

G

lymphoid enhancer binding factor 1

mRNA, protein:increases expression:mitral valve, heart (rat)

NCBI chr 4:100,552,959...100,674,156
Ensembl chr 4:111,125,312...111,245,980

G

HLA class II histocompatibility antigen, DQ beta 1 chain

DNA:polymorphisms:cds:HLA-DQB1*08 (human)

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

G

matrix metallopeptidase 9

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

snail family transcriptional repressor 1

mRNA, protein:increases expression:mitral valve, heart (rat)

NCBI chr20:46,321,075...46,328,865
Ensembl chr20:47,384,818...47,390,733

G

suppressor of cytokine signaling 1

treatment

NCBI chr16:10,196,432...10,198,205

G

twist family bHLH transcription factor 1

mRNA, protein:increases expression:mitral valve, heart (rat)

NCBI chr 7:19,761,041...19,765,665

G

zinc finger E-box binding homeobox 1

mRNA, protein:increases expression:mitral valve, heart (rat)

NCBI chr10:31,449,202...31,659,534
Ensembl chr10:32,046,491...32,253,550

G

zinc finger E-box binding homeobox 2

mRNA, protein:increases expression:mitral valve, heart (rat)

NCBI chr2B:15,325,094...15,460,908
Ensembl chr2B:148,460,904...148,596,500

rheumatic myocarditis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gelsolin

protein:decreased expression:blood plasma (human)

NCBI chr 9:92,413,819...92,460,483
Ensembl chr 9:120,741,148...120,805,831

G

intercellular adhesion molecule 1

severity

protein:increased expression:serum

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

selectin E

severity

protein:increased expression:serum

NCBI chr 1:145,205,684...145,217,143
Ensembl chr 1:148,930,437...148,938,313

G

vascular cell adhesion molecule 1

severity

protein:increased expression:serum

NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732

Silicotuberculosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

stimulator of interferon response cGAMP interactor 1

severity

NCBI chr 5:134,845,689...134,852,938
Ensembl chr 5:140,967,399...140,973,846

Staphylococcal Infections

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

CTD Direct Evidence: marker/mechanism

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

CD163 molecule

exacerbates

NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023

G

CD36 molecule (CD36 blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

interleukin 10

treatment

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 2

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

G

interleukin 4

susceptibility

DNA:SNP:promoter:-542C>T (human)

NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581

G

interleukin 1 receptor associated kinase 3

treatment

NCBI chr12:22,661,613...22,721,203
Ensembl chr12:23,168,346...23,227,148

G

lactotransferrin

NCBI chr 3:46,337,738...46,367,476
Ensembl chr 3:47,442,440...47,471,532

G

signal transducer and activator of transcription 2

ameliorates

associated with influenza A

NCBI chr12:32,555,523...32,574,137
Ensembl chr12:32,808,586...32,827,732

G

toll like receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

5'-3' exoribonuclease 1

susceptibility

DNA:snp:intron:c.2339+1477G>A (rs7643377) (human)

NCBI chr 3:139,337,337...139,481,479
Ensembl chr 3:146,930,988...147,073,827

Staphylococcal Pneumonia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 1

treatment

NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756

G

CD86 molecule

protein:decreased expression:spleen, plasmacytoid dendritic cell (mouse)

NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339

G

CF transmembrane conductance regulator

NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864

G

colony stimulating factor 3

treatment

NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729

G

fibronectin 1

NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003

G

interferon alpha and beta receptor subunit 1

susceptibility

NCBI chr21:19,683,496...19,719,034
Ensembl chr21:33,058,396...33,093,824

G

interleukin 10

mRNA, protein:increased expression:lung

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 15

NCBI chr 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622

G

interleukin 1 beta

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 33

mRNA:increased expression:lung:

NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624

G

nucleotide binding oligomerization domain containing 2

NCBI chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773

G

parkin RBR E3 ubiquitin protein ligase

protein:increased expression:lung (mouse)

NCBI chr 6:159,293,016...160,679,106
Ensembl chr 6:164,314,990...165,678,770

G

protein tyrosine phosphatase non-receptor type 11

severity

associated with influenza
mRNA:increased expression:lung

NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

receptor interacting serine/threonine kinase 3

treatment

NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821

G

surfactant protein B

ameliorates

NCBI chr2A:85,708,485...85,718,120
Ensembl chr2A:87,257,244...87,268,332

Staphylococcal Skin Infections

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 17A

NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074

G

interleukin 18

treatment

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

interleukin 33

treatment

mRNA,protein:increased expression:skin

NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624

G

receptor interacting serine/threonine kinase 3

ameliorates

NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821

G

serpin family F member 1

severity

NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568

Streptococcal Infections

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD86 molecule

associated with Encephalomyelitis, Experimental Autoimmune; protein:increased expression:spleen, dendritic cell (mouse)

NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339

G

interleukin 17A

protein:increased expression:serum (mouse)

NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074

G

lipocalin 2

mRNA,protein:increased expression:respiratory epithelium, olfactory mucosa epithelium

NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798

G

MX dynamin like GTPase 1

associated with pharyngitis;protein:increased expression:blood (human)

NCBI chr21:27,756,768...27,795,307
Ensembl chr21:41,095,928...41,123,019

G

toll like receptor 2

severity

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

tumor necrosis factor

associated with Otitis Media

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

Streptococcus pneumonia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATM serine/threonine kinase

exacerbates

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

Bruton tyrosine kinase

NCBI chr X:90,551,874...90,588,786
Ensembl chr X:100,684,017...100,725,187

G

indoleamine 2,3-dioxygenase 1

mRNA:increased expression:lung (mouse)

NCBI chr 8:39,108,310...39,123,611
Ensembl chr 8:36,617,312...36,632,352

G

interferon gamma

protein:increased expression:lung,natural killer cell (mouse)

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

interleukin 6

protein:increased expression:lung,natural killer cell (mouse)

NCBI chr 7:23,415,922...23,420,767

G

interleukin 1 receptor associated kinase 3

severity

NCBI chr12:22,661,613...22,721,203
Ensembl chr12:23,168,346...23,227,148

G

integrin subunit beta 2

susceptibility

NCBI chr21:31,181,228...31,216,033
Ensembl chr21:44,470,999...44,505,963

G

lysosomal associated membrane protein 1

protein:increased expression:lung, natural killer cell (mouse)

NCBI chr13:94,442,507...94,464,061
Ensembl chr13:113,507,401...113,530,457

G

C-type lectin domain family 4 member M

severity

NCBI chr19:7,062,961...7,069,381

G

macrophage receptor with collagenous structure

exacerbates

NCBI chr2B:5,896,433...5,940,284
Ensembl chr2B:119,475,677...119,520,385

G

natural cytotoxicity triggering receptor 1

severity

NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274

G

programmed cell death 1

treatment

NCBI chr12:130,849,353...130,858,776

G

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

treatment

associated with immunodeficiency 14

NCBI chr 1:8,418,570...8,495,435
Ensembl chr 1:9,686,208...9,724,633

G

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

severity

NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614

G

receptor interacting serine/threonine kinase 3

exacerbates

NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821

G

tumor necrosis factor

protein:increased expression:lung,natural killer cell (mouse)

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

tuberculoid leprosy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transporter 2, ATP binding cassette subfamily B member

susceptibility

DNA:polymorphism: :

NCBI chr 6:32,394,586...32,408,297
Ensembl chr 6:33,507,332...33,523,750

tuberculosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

advanced glycosylation end-product specific receptor

severity

NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641

G

butyrophilin like 2

no_association
susceptibility

DNA:SNPs,haplotypes: :
DNA:SNPs,haplotypes: : rs3763313, rs9268494, rs9268492(human)

PMID:17347014 PMID:20176143

RGD:9685035 RGD:9685036

NCBI chr 6:32,067,223...32,126,032

G

cystathionine beta-synthase

severity

protein:increased expression:macrophages (mouse)

NCBI chr21:29,361,519...29,385,610
Ensembl chr21:42,670,530...42,690,932

G

C-C motif chemokine ligand 1

susceptibility

DNA:SNP: :rs159294, rs210837, rs10491110 (human)

NCBI chr17:22,425,022...22,430,243
Ensembl chr17:22,719,425...22,722,341

G

C-C motif chemokine ligand 2

ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to

PMID:11500196 PMID:15466648 PMID:16352737 PMID:16596675 PMID:18940815 More...

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

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CD209 molecule

susceptibility

ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to

PMID:15564514 PMID:15838506 PMID:16379498 PMID:25741868

NCBI chr19:7,042,033...7,047,350

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CD274 molecule

mRNA, protein:increased expression:blood, neutrophil

NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402

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CD86 molecule

protein:increased expression:lung (mouse)

NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339

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CD8 subunit alpha

susceptibility

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

PMID:26725873 PMID:27553407

RGD:124715445 RGD:124715450

NCBI chr2A:86,832,559...86,855,772
Ensembl chr2A:88,377,722...88,382,635

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CCAAT enhancer binding protein beta

mRNA:increased expression:lung, spleen (mouse)

NCBI chr20:46,533,163...46,535,282

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class II major histocompatibility complex transactivator

susceptibility

knockouts show increased susceptibility to infection by all available criteria including mycobacterial growth, lung damage and survival time

NCBI chr16:9,819,440...9,885,379
Ensembl chr16:11,041,434...11,090,485

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cytokine inducible SH2 containing protein

susceptibility

ClinVar Annotator: match by term: Tuberculosis, susceptibility to

NCBI chr 3:50,531,870...50,537,319
Ensembl chr 3:51,769,194...51,774,548

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coronin 1A

CTD Direct Evidence: marker/mechanism

Ensembl chr16:30,550,383...30,556,196

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C-X-C motif chemokine ligand 8

susceptibility

DNA:SNP:promoter:-251A>T (human)
protein:increased expression:blood plasma, erythrocyte (human)

PMID:26300588 PMID:32393145

RGD:11250849 RGD:150520198

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

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C-X-C motif chemokine ligand 9

protein:increased expression:serum

NCBI chr 4:48,198,478...48,204,658
Ensembl chr 4:54,036,342...54,042,502

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cytochrome P450 family 2 subfamily B member 6

treatment

associated with human immunodeficiency virus infectious disease; ;DNA:SNP: :516G>T (rs3745274)(human)
DNA:SNPs: :c.516G>T (rs3745274) and c.785A>G (rs2279343)(human)

PMID:28389387 PMID:30239753

RGD:41410886 RGD:41412160

NCBI chr19:38,003,083...38,028,980
Ensembl chr19:46,509,370...46,534,672

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cytochrome P450 family 2 subfamily C member 19

treatment

DNA:polymorphisms:: CYP2C19*17(rs12248560),CYP2C19*2 (c.681C>A; rs4244285)(human)

NCBI chr10:91,375,255...91,465,215
Ensembl chr10:94,884,472...94,970,065

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epiregulin

susceptibility

DNA:SNP:intron: (rs7675690) (human)

NCBI chr 4:49,806,505...49,827,961
Ensembl chr 4:55,641,014...55,660,568

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hyaluronan synthase 1

NCBI chr19:48,657,165...48,668,130
Ensembl chr19:57,537,049...57,547,804

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interferon gamma

ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against

PMID:10663562 PMID:11053629 PMID:12788577 PMID:18414898

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

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interferon gamma receptor 1

susceptibility

ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to

PMID:9389728 PMID:10192386 PMID:11583830 PMID:12516030 PMID:16195661 More...

NCBI chr 6:134,958,270...134,980,560
Ensembl chr 6:139,045,821...139,068,053

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interleukin 12 receptor subunit beta 1

ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to

PMID:9603733 PMID:12591909 PMID:28492532

NCBI chr19:17,536,709...17,547,665
Ensembl chr19:18,513,585...18,541,383

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interleukin 15

mRNA:altered expression:lung, spleen

NCBI chr 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622

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interleukin 22

NCBI chr12:65,757,069...65,762,418
Ensembl chr12:68,542,076...68,547,421

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interleukin 27

exacerbates

associated with Pleural Effusion;protein:increased expression:pleural effusion (human)
mRNA:increased expression:blood (human)

PMID:25511588 PMID:26282876

RGD:11086047 RGD:126790514

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interleukin 33

associated with Pleural Effusion;protein:increased expression:pleural biopsy

NCBI chr 9:6,027,014...6,069,540
Ensembl chr 9:6,234,178...6,248,624

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interleukin 1 receptor associated kinase 3

mRNA, protein:increased expression:sputum (human)

NCBI chr12:22,661,613...22,721,203
Ensembl chr12:23,168,346...23,227,148

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immunity related GTPase M

NCBI chr 5:146,274,097...146,329,979
Ensembl chr 5:152,278,581...152,308,182

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killer cell lectin like receptor K1

treatment

NCBI chr12:10,411,932...10,429,256
Ensembl chr12:10,662,424...10,699,078

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HLA class II histocompatibility antigen, DQ beta 1 chain

susceptibility

associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-DQB1*05

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

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class I histocompatibility antigen, Gogo-B*0101 alpha chain

susceptibility

associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-B41

NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067

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MAPK activated protein kinase 3

ClinVar Annotator: match by term: Tuberculosis, susceptibility to

NCBI chr 3:50,542,547...50,574,817
Ensembl chr 3:51,779,912...51,812,124

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NFE2 like bZIP transcription factor 2

treatment

DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human)

NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085

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neuregulin 1

susceptibility

DNA:SNP, haplotype: (rs16879814)

NCBI chr 8:30,954,852...32,084,411
Ensembl chr 8:29,050,222...29,263,977

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programmed cell death 1

treatment

NCBI chr12:130,849,353...130,858,776

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

NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614

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receptor interacting serine/threonine kinase 3

exacerbates

NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821

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solute carrier family 11 member 1

susceptibility

ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to infection by

PMID:16103355 PMID:25741868

NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941

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SP110 nuclear body protein

susceptibility

ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to

PMID:16803959 PMID:16816019 PMID:17149599 PMID:24033266 PMID:25741868 More...

NCBI chr2B:117,417,230...117,472,246
Ensembl chr2B:236,221,833...236,275,562

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SP140 nuclear body protein

ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to

PMID:16803959 PMID:16816019 PMID:17149599 PMID:25741868 PMID:28492532

NCBI chr2B:117,477,923...117,565,367
Ensembl chr2B:236,279,460...236,366,314

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secreted phosphoprotein 1

NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935

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stimulator of interferon response cGAMP interactor 1

NCBI chr 5:134,845,689...134,852,938
Ensembl chr 5:140,967,399...140,973,846

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TIR domain containing adaptor protein

ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to

PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868

NCBI chr11:121,100,558...121,112,844
Ensembl chr11:125,018,064...125,022,309

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toll like receptor 1

susceptibility

DNA:snps, haplotype:cds:p.N248S, p.S602I (human)

NCBI chr 4:33,119,485...33,133,541
Ensembl chr 4:38,979,006...38,981,366

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toll like receptor 2

susceptibility

ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to

PMID:14979495 PMID:16081826 PMID:22992740 PMID:25741868 PMID:28492532

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

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toll like receptor 4

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

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toll like receptor 6

susceptibility

DNA:missense mutations:cds:multiple (human)

NCBI chr 4:33,153,151...33,174,053
Ensembl chr 4:39,009,103...39,011,490

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tumor necrosis factor

protein:increased expression:serum

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

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TNF receptor superfamily member 1B

DNA:snp:3' utr:g.*215C>T rs3397 (human)

NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646

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TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr 9:85,998,567...86,036,373
Ensembl chr 9:114,360,206...114,397,822

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vitamin D receptor

susceptibility

associated with HIV Infections;DNA:SNPs:3' UTR (human)

NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192

Whipple disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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CD163 molecule

protein:increased expression:duodenum, macrophage (human)

NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023

Term paths to the root

Path 1
Term	Annotations
disease	15755
disease by infectious agent	2141
Bacterial Infections and Mycoses	1054
bacterial infectious disease	802
Gram-Positive Bacterial Infections	389
Actinomycetales Infections +	316
Bacillaceae Infections +	8
Bifidobacteriales Infections	0
Clostridium Infections +	5
Erysipelothrix Infections +	0
Staphylococcal Infections +	31
Streptococcal Infections +	91
listeriosis +	16

paths to the root