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

show annotations for term's descendants Sort by:
Rat (394) Mouse (404) Human (1601) Chinchilla (350) Bonobo (389) Dog (390) Squirrel (352) Pig (382) Green Monkey (377) Naked Mole-rat (344) All
Genes (390)

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 chr37:12,663,839...12,735,266
Ensembl chr37:12,670,999...12,733,458

G

toll like receptor 2

NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241

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 chr32:4,143,407...4,302,194
Ensembl chr32:4,148,310...4,302,071

G

elastase, neutrophil expressed

protein:increased expression:plasma:

NCBI chr20:57,789,044...57,790,932
Ensembl chr20:57,788,062...57,790,932

G

interleukin 1 beta

disease_progression

mRNA:decreased expression:multiple (mouse)

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

ribonuclease L

severity

NCBI chr 7:15,978,055...16,001,604
Ensembl chr 7:15,856,151...16,001,569

G

tumor necrosis factor

disease_progression

protein:decreased expression:multiple (mouse)

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

Bovine Tuberculosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 23 subunit alpha

NCBI chr10:635,384...640,715
Ensembl chr10:638,719...640,359

G

interleukin 4

CTD Direct Evidence: therapeutic

NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534

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 chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282

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 chr10:635,384...640,715
Ensembl chr10:638,719...640,359

G

interleukin 33

severity
treatment

NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721

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)

NCBI chr 6:18,243,988...18,248,369
Ensembl chr 6:18,244,040...18,247,635

G

macrophage receptor with collagenous structure

exacerbates

NCBI chr19:30,996,209...31,034,520
Ensembl chr19:30,996,347...31,034,487

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 chr26:29,359,930...29,381,854
Ensembl chr26:29,360,356...29,366,008

G

C-X-C motif chemokine ligand 8

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

NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

toll like receptor 2

mRNA:increased expression:footpad:

NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241

G

toll like receptor 4

mRNA:decreased expression:footpad:

NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165

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 chr20:52,517,759...52,542,085
Ensembl chr20:52,518,036...52,520,942

G

C-X-C motif chemokine ligand 8

protein:increased expression:serum (human)

NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

epiregulin

susceptibility

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

NCBI chr13:62,857,325...62,877,831
Ensembl chr13:62,856,709...62,877,760

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 chr24:23,338,757...23,393,913
Ensembl chr24:23,354,888...23,393,896

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 chr11:74,248,227...74,268,129
Ensembl chr11:74,233,457...74,268,129

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 chr34:119,307...159,419
Ensembl chr34:122,274...159,394

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 chr11:20,773,801...20,781,106
Ensembl chr11:20,760,120...20,781,608

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 1:28,852,654...28,882,095
Ensembl chr 1:28,855,041...28,882,006

G

caspase recruitment domain family member 11

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

NCBI chr 6:14,273,115...14,331,029
Ensembl chr 6:14,210,114...14,332,094

G

interferon gamma receptor 1

ClinVar Annotator: match by term: Immunodeficiency 27A

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

NCBI chr 1:29,646,776...29,669,669
Ensembl chr 1:29,647,552...29,669,578

G

interferon gamma receptor 2

ClinVar Annotator: match by term: Immunodeficiency 27A

NCBI chr31:28,909,930...28,948,742

G

interleukin 12 receptor subunit beta 1

ClinVar Annotator: match by term: Immunodeficiency 27A

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

NCBI chr20:44,885,410...44,908,139
Ensembl chr20:44,885,337...44,904,538

G

interleukin 20 receptor subunit alpha

ClinVar Annotator: match by term: Immunodeficiency 27A

NCBI chr 1:29,506,582...29,545,882
Ensembl chr 1:29,506,689...29,546,006

G

interleukin 22 receptor subunit alpha 2

ClinVar Annotator: match by term: Immunodeficiency 27A

NCBI chr 1:29,611,096...29,631,811
Ensembl chr 1:29,611,722...29,631,473

G

mitogen-activated protein kinase kinase kinase 5

ClinVar Annotator: match by term: Immunodeficiency 27A

NCBI chr 1:29,107,813...29,306,437
Ensembl chr 1:29,108,591...29,306,503

G

microtubule associated protein 7

ClinVar Annotator: match by term: Immunodeficiency 27A

NCBI chr 1:28,933,422...29,101,944
Ensembl chr 1:28,934,761...29,101,896

G

mitochondrial fission regulator 2

ClinVar Annotator: match by term: Immunodeficiency 27A

NCBI chr 1:28,830,818...28,844,875
Ensembl chr 1:28,830,867...28,844,710

G

phosphodiesterase 7B

ClinVar Annotator: match by term: Immunodeficiency 27A

NCBI chr 1:28,479,641...28,795,644
Ensembl chr 1:28,479,968...28,792,008

G

peroxisomal biogenesis factor 7

ClinVar Annotator: match by term: Immunodeficiency 27A

NCBI chr 1:29,337,362...29,423,608
Ensembl chr 1:29,337,386...29,418,126

G

solute carrier family 35 member D3

ClinVar Annotator: match by term: Immunodeficiency 27A

NCBI chr 1:29,426,003...29,429,272
Ensembl chr 1:29,425,559...29,428,270

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 chr37:437,744...489,008
Ensembl chr37:438,259...489,008

G

asparagine synthetase domain containing 1

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr37:426,366...430,668
Ensembl chr37:426,367...439,619

G

chromosome 37 C2orf88 homolog

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr37:611,530...840,144
Ensembl chr37:836,416...836,703

G

collagen type III alpha 1 chain

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765

G

collagen type V alpha 2 chain

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr36:30,538,863...30,677,450
Ensembl chr36:30,540,229...30,691,564

G

glutaminase

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr37:1,433,640...1,508,347
Ensembl chr37:1,433,398...1,508,146

G

3-hydroxyisobutyryl-CoA hydrolase

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr37:841,385...943,972
Ensembl chr37:841,414...943,941

G

inositol polyphosphate-1-phosphatase

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr37:975,286...987,570
Ensembl chr37:976,559...985,772

G

major facilitator superfamily domain containing 6

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr37:1,012,202...1,078,759
Ensembl chr37:1,013,234...1,077,112

G

myostatin

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr37:729,172...734,255
Ensembl chr37:729,172...734,362

G

NGFI-A binding protein 1

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr37:1,207,619...1,243,546
Ensembl chr37:1,207,638...1,241,610

G

nuclear envelope integral membrane protein 2

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr37:1,073,117...1,104,249
Ensembl chr37:1,085,482...1,096,484

G

ORMDL sphingolipid biosynthesis regulator 1

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr37:509,592...521,511
Ensembl chr37:511,149...522,865

G

O-sialoglycoprotein endopeptidase like 1

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr37:476,093...502,642
Ensembl chr37:476,827...502,263

G

PMS1 homolog 1, mismatch repair system component

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr37:502,752...609,640
Ensembl chr37:502,747...790,904

G

solute carrier family 40 member 1

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr37:308,054...329,037
Ensembl chr37:303,104...368,865

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 chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178

G

signal transducer and activator of transcription 4

ClinVar Annotator: match by term: Immunodeficiency 31B

PMID:22651901 PMID:28492532

NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894

G

WD repeat domain 75

ClinVar Annotator: match by term: Immunodeficiency 31B

NCBI chr37:157,400...191,127
Ensembl chr37:157,455...190,916

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:121,545,690...121,564,117
Ensembl chr X:121,545,586...121,563,186

G

Rho GTPase activating protein 4

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,754,965...121,772,209
Ensembl chr X:121,755,221...121,772,541

G

ATPase plasma membrane Ca2+ transporting 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,355,217...121,405,245
Ensembl chr X:121,361,239...121,403,609

G

ATPase H+ transporting accessory protein 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,133,314...122,140,949
Ensembl chr X:122,133,325...122,140,447

G

arginine vasopressin receptor 2

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,751,606...121,754,771
Ensembl chr X:121,752,027...121,754,771

G

B cell receptor associated protein 31

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,515,417...121,550,373
Ensembl chr X:121,507,084...121,545,263

G

biglycan

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,330,371...121,334,634
Ensembl chr X:121,330,259...121,334,634

G

BRCA1/BRCA2-containing complex subunit 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,081,262...123,143,509
Ensembl chr X:123,081,050...123,140,133

G

cyclin Q

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,409,169...121,418,666
Ensembl chr X:121,409,625...121,418,395

G

chloride intracellular channel 2

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,268,867...123,291,467
Ensembl chr X:123,268,867...123,291,467

G

C-X9-C motif containing 4

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,071,076...123,080,799

G

dyskerin pseudouridine synthase 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,838,787...122,850,870
Ensembl chr X:122,838,645...122,850,884

G

deoxyribonuclease 1 like 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,101,992...122,109,240
Ensembl chr X:122,101,992...122,109,165

G

dual specificity phosphatase 9

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,460,116...121,472,605
Ensembl chr X:121,460,895...121,472,608

G

emerin

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,050,309...122,052,629
Ensembl chr X:122,050,455...122,052,524

G

coagulation factor VIII

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,894,974...123,046,343
Ensembl chr X:122,885,162...123,043,414

G

coagulation factor VIII associated 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,914,362...122,916,199

G

FAM3 metabolism regulating signaling molecule A

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,205,043...122,212,626
Ensembl chr X:122,205,683...122,212,195

G

family with sequence similarity 50 member A

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,148,234...122,158,172
Ensembl chr X:122,148,282...122,154,807

G

filamin A

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,058,303...122,083,467
Ensembl chr X:122,061,455...122,083,203

G

FUN14 domain containing 2

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,046,451...123,064,580
Ensembl chr X:123,045,954...123,064,580

G

glucose-6-phosphate dehydrogenase

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,217,317...122,231,862
Ensembl chr X:122,205,683...122,231,678

G

GRB2 associated binding protein 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,741,199...122,822,446
Ensembl chr X:122,741,197...122,779,143

G

GDP dissociation inhibitor 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,141,633...122,146,724
Ensembl chr X:122,141,566...122,146,824

G

H2A.B variant histone 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,910,412...122,913,373
Ensembl chr X:122,910,968...122,913,382

G

H2A.B variant histone 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,309,084...123,310,276

G

HAUS augmin like complex subunit 7

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,264,824...121,296,712
Ensembl chr X:121,266,584...121,297,076

G

host cell factor C1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,790,585...121,815,395
Ensembl chr X:121,791,660...121,814,715

G

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

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,599,368...121,608,707
Ensembl chr X:121,599,368...121,608,643

G

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

ClinVar Annotator: match by term: Immunodeficiency 33

PMID:11590134 PMID:15229184 PMID:16950813 PMID:18222329 PMID:20529958 More...

NCBI chr X:122,232,052...122,253,499
Ensembl chr X:122,235,878...122,250,562

G

interleukin 1 receptor associated kinase 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,853,340...121,862,582
Ensembl chr X:121,819,432...121,862,576

G

L1 cell adhesion molecule

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,708,695...121,722,819
Ensembl chr X:121,708,894...121,733,365

G

L antigen family member 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,185,300...122,186,498

G

EKC/KEOPS complex subunit LAGE3-like

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,566,522...122,567,799

G

small nucleolar RNA SNORA56

ClinVar Annotator: match by term: Immunodeficiency 33

G

interleukin-9 receptor

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr 6:40,425,072...40,437,917

G

methyl-CpG binding protein 2

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,866,721...121,876,088
Ensembl chr X:121,873,218...121,932,994

G

MAGUK p55 scaffold protein 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,851,667...122,878,865
Ensembl chr X:122,851,667...122,879,394

G

mature T cell proliferation 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,071,076...123,080,695
Ensembl chr X:123,074,956...123,080,793

G

N-alpha-acetyltransferase 10, NatA catalytic subunit

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,777,658...121,782,097
Ensembl chr X:121,727,573...121,788,860

G

opsin 1, medium wave sensitive

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,974,552...121,987,418
Ensembl chr X:121,974,552...121,987,418

G

PDZ domain containing 4

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,616,122...121,647,326
Ensembl chr X:121,616,114...121,647,697

G

plexin A3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,165,460...122,180,727
Ensembl chr X:122,167,144...122,180,951

G

plexin B3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,577,564...121,593,294
Ensembl chr X:121,580,073...121,593,287

G

pregnancy up-regulated nonubiquitous CaM kinase

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,489,041...121,491,356
Ensembl chr X:121,489,040...121,491,431

G

RAB39B, member RAS oncogene family

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,245,227...123,251,283
Ensembl chr X:123,247,760...123,251,288

G

renin binding protein

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,782,411...121,788,928
Ensembl chr X:121,727,573...121,788,860

G

ribosomal protein L10

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,098,020...122,100,719
Ensembl chr X:122,098,020...122,100,719

G

solute carrier family 10 member 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,197,049...122,201,103
Ensembl chr X:122,197,289...122,200,219

G

solute carrier family 6 member 8

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,505,117...121,511,674
Ensembl chr X:121,505,141...121,510,347

G

small integral membrane protein 9

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,885,491...122,893,466

G

sprouty RTK signaling antagonist 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,436,201...123,624,816
Ensembl chr X:123,620,920...123,621,786

G

SRSF protein kinase 3

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,594,992...121,599,333
Ensembl chr X:121,594,864...121,599,277

G

signal sequence receptor subunit 4

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,608,802...121,613,796
Ensembl chr X:121,608,944...121,613,795

G

tafazzin, phospholipid-lysophospholipid transacylase

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,111,608...122,125,714
Ensembl chr X:122,111,434...122,125,506

G

testis expressed 28

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,987,726...122,030,718
Ensembl chr X:121,986,906...121,996,306

G

transketolase like 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,007,270...122,034,500
Ensembl chr X:122,007,282...122,034,255

G

transmembrane protein 187

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,815,982...121,820,790

G

trimethyllysine hydroxylase, epsilon

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,322,773...123,438,999
Ensembl chr X:123,324,729...123,438,947

G

three prime repair exonuclease 2

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:121,263,341...121,265,009
Ensembl chr X:121,258,646...121,264,555

G

ubiquitin like 4A

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:122,195,500...122,196,579
Ensembl chr X:122,195,502...122,196,577

G

vesicle associated membrane protein 7

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,717,524...123,783,781
Ensembl chr X:123,717,446...123,783,014

G

VHL binding protein 1

ClinVar Annotator: match by term: Immunodeficiency 33

NCBI chr X:123,210,965...123,231,847
Ensembl chr X:123,203,722...123,231,091

immunodeficiency 34

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome b-245 beta 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:32,533,365...32,568,149
Ensembl chr X:32,533,320...32,568,217

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 5:56,466,833...56,482,023
Ensembl chr 5:56,468,164...56,481,913

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 5:57,659,055...57,660,479
Ensembl chr 5:57,659,262...57,660,395

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...

NCBI chr 5:56,239,621...56,273,679
Ensembl chr 5:56,239,701...56,272,745

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 5:56,564,686...56,568,194
Ensembl chr 5:56,565,514...56,567,376

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 5:58,031,246...58,051,936
Ensembl chr 5:58,030,459...58,051,936

G

ATPase family AAA domain containing 3A

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 5:56,587,385...56,613,475
Ensembl chr 5:56,587,428...56,612,746

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 5:56,539,987...56,541,578
Ensembl chr 5:56,539,991...56,541,388

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...

NCBI chr 5:56,421,687...56,423,120
Ensembl chr 5:56,405,372...56,422,771

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...

NCBI chr 5:56,433,555...56,438,419
Ensembl chr 5:56,433,552...56,438,339

G

chromosome 5 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...

NCBI chr 5:56,296,633...56,330,358
Ensembl chr 5:56,297,635...56,307,616

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 5:56,901,401...56,904,422
Ensembl chr 5:56,901,715...56,904,424

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 5:58,266,091...58,280,997
Ensembl chr 5:58,269,308...58,279,829

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 5:56,542,358...56,550,701
Ensembl chr 5:56,542,566...56,550,691

G

cyclin dependent kinase 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 5:56,698,267...56,714,075

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 5:58,301,767...58,339,920
Ensembl chr 5:58,305,589...58,335,438

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 5:56,909,092...56,970,980
Ensembl chr 5:56,909,486...56,961,903

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 5:56,498,163...56,501,918
Ensembl chr 5:56,498,207...56,500,845

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 5:56,507,803...56,519,382
Ensembl chr 5:56,507,739...56,519,491

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 5:57,114,784...57,122,854

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 5:56,660,721...56,662,696

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 5:56,984,786...56,994,790
Ensembl chr 5:56,984,913...56,994,358

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 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295

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...

NCBI chr 5:56,221,509...56,226,938
Ensembl chr 5:56,225,497...56,226,772

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 5:57,387,961...57,389,412
Ensembl chr 5:57,388,674...57,389,388

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 5:56,485,690...56,498,074
Ensembl chr 5:56,485,948...56,498,017

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...

NCBI chr 5:56,230,879...56,237,354
Ensembl chr 5:56,236,318...56,404,695

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...

NCBI chr 5:56,186,077...56,193,671
Ensembl chr 5:56,187,922...56,192,983

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 5:58,286,909...58,297,961
Ensembl chr 5:58,288,392...58,297,996

G

multiple EGF like domains 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 5:58,058,833...58,145,855
Ensembl chr 5:58,059,031...58,146,193

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 5:56,680,526...56,693,551
Ensembl chr 5:56,581,550...56,693,544

G

microRNA mir-200a

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 5:56,369,063...56,369,152
Ensembl chr 5:56,369,061...56,369,151

G

microRNA mir-200b

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 5:56,368,400...56,368,479
Ensembl chr 5:56,368,400...56,368,479

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 5:57,434,880...57,467,973
Ensembl chr 5:57,434,886...57,465,911

G

matrix metallopeptidase 23

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 5:56,693,751...56,697,284
Ensembl chr 5:56,694,966...56,697,284

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 5:57,227,265...57,275,292
Ensembl chr 5:57,227,315...57,277,669

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 5:56,553,326...56,558,182
Ensembl chr 5:56,553,331...56,558,136

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 5:56,522,283...56,526,750
Ensembl chr 5:56,522,470...56,526,668

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 5:56,743,920...56,774,578
Ensembl chr 5:56,745,869...56,774,529

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...

NCBI chr 5:56,172,399...56,185,993
Ensembl chr 5:56,172,446...56,185,932

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 5:57,370,624...57,386,095
Ensembl chr 5:57,370,946...57,386,089

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...

NCBI chr 5:57,289,530...57,291,864
Ensembl chr 5:57,289,326...57,291,802

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 5:57,303,160...57,368,568
Ensembl chr 5:57,302,996...57,371,468

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...

NCBI chr 5:56,193,824...56,202,340
Ensembl chr 5:56,194,583...56,202,293

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 5:57,805,951...58,018,817
Ensembl chr 5:57,730,370...58,017,976

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 5:57,012,020...57,113,346
Ensembl chr 5:57,012,070...57,112,664

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 5:57,429,973...57,434,371
Ensembl chr 5:57,429,212...57,434,210

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 5:56,482,802...56,485,778
Ensembl chr 5:56,482,363...56,485,783

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...

NCBI chr 5:57,278,349...57,288,564
Ensembl chr 5:57,278,371...57,285,870

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...

NCBI chr 5:56,290,548...56,293,473

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...

NCBI chr 5:56,119,207...56,175,267
Ensembl chr 5:56,151,171...56,172,055

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 5:56,455,677...56,466,035
Ensembl chr 5:56,461,939...56,465,595

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...

NCBI chr 5:56,407,506...56,421,515
Ensembl chr 5:56,407,807...56,421,430

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 5:57,144,178...57,216,385
Ensembl chr 5:57,145,825...57,214,403

G

solute carrier family 35 member E2

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 5:56,715,798...56,739,464
Ensembl chr 5:56,718,550...56,738,420

G

small integral membrane 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 5:58,281,962...58,285,071
Ensembl chr 5:58,282,347...58,284,616

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 5:56,620,803...56,650,131
Ensembl chr 5:56,620,805...56,650,131

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 5:56,503,720...56,506,883
Ensembl chr 5:56,503,720...56,506,898

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 5:56,613,561...56,619,693
Ensembl chr 5:56,614,201...56,619,693

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 5:56,900,297...56,906,565
Ensembl chr 5:56,901,674...56,906,500

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 5:56,569,512...56,573,353
Ensembl chr 5:56,569,814...56,571,310

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 5:57,386,190...57,416,864
Ensembl chr 5:57,411,529...57,416,512

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...

NCBI chr 5:56,394,559...56,397,502
Ensembl chr 5:56,394,659...56,397,741

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...

NCBI chr 5:56,401,410...56,404,410
Ensembl chr 5:56,401,384...56,404,761

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 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839

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 5:58,155,178...58,159,880
Ensembl chr 5:58,157,096...58,159,880

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 5:57,470,807...57,481,874
Ensembl chr 5:57,473,001...57,490,971

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...

NCBI chr 5:56,364,247...56,390,899
Ensembl chr 5:56,336,884...56,388,693

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 5:56,440,394...56,455,491
Ensembl chr 5:56,441,821...56,455,460

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 5:56,578,256...56,583,552
Ensembl chr 5:56,578,297...56,582,502

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 5:58,160,438...58,176,011
Ensembl chr 5:58,160,431...58,175,920

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 chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

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 chr30:16,593,834...16,638,435
Ensembl chr30:16,596,967...16,745,608

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 chr 9:24,077,752...24,086,560
Ensembl chr 9:24,077,761...24,086,261

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 chr32:598,406...599,925
Ensembl chr32:597,987...599,979

G

C-X-C motif chemokine ligand 11

disease_progression

NCBI chr32:631,084...636,997
Ensembl chr32:631,478...632,868
Ensembl chr32:631,478...632,868

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 chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727

G

glycoprotein A33

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

NCBI chr 7:31,277,223...31,324,264
Ensembl chr 7:31,272,250...31,322,647

G

interleukin 32

mRNA:increased expression:blood (human)

NCBI chr 6:38,119,287...38,122,979

G

KIT proto-oncogene, receptor tyrosine kinase

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

NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029

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 chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761

G

CD163 molecule

exacerbates

protein:increased expression:blood serum (human)

PMID:22851198 PMID:28355218

RGD:127345133 RGD:39939078

NCBI chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106

G

complement factor B

severity

NCBI chr12:1,400,143...1,406,267

G

interleukin 27

ameliorates

mRNA:decreased expression:skin of body (human)

NCBI chr 6:18,243,988...18,248,369
Ensembl chr 6:18,244,040...18,247,635

G

mannose binding lectin 1

susceptibility

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

NCBI chr 4:29,419,886...29,424,377

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 7:10,843,859...10,854,269
Ensembl chr 7:10,843,850...10,857,847

G

coiled-coil domain containing 122

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

NCBI chr22:7,004,022...7,047,249
Ensembl chr22:7,003,850...7,046,952

G

coiled-coil domain containing 88B

CTD Direct Evidence: marker/mechanism

NCBI chr18:52,722,197...52,737,023
Ensembl chr18:52,708,838...52,736,728

G

CD8 subunit alpha

exacerbates

mRNA:increased expression:blood (human)

NCBI chr17:38,396,022...38,400,508
Ensembl chr17:38,369,414...38,400,508

G

C-X-C motif chemokine ligand 8

severity

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

NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

MHC class II DLA DRB1 beta chain

susceptibility

DNA:polymorphisms (human)

PMID:19698125 PMID:20003324

RGD:5147585 RGD:5147788

NCBI chr12:2,151,409...2,164,564

G

interleukin 10

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

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 17A

severity

mRNA:decreased expression:epidermis (human)

NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513

G

interleukin 19

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

NCBI chr 7:6,000,994...6,006,959
Ensembl chr 7:6,000,907...6,006,870

G

interleukin 23 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474

G

laccase domain containing 1

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

NCBI chr22:6,824,942...7,002,888

G

leucine rich repeat kinase 2

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

PMID:26467025 PMID:28492532

NCBI chr27:13,282,824...13,420,917
Ensembl chr27:13,283,756...13,420,870

G

lymphotoxin alpha

susceptibility

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

PMID:15052269 PMID:17353895

NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067

G

mannose receptor C-type 1

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

NCBI chr 2:19,090,580...19,185,943
Ensembl chr 2:19,069,120...19,185,691

G

nucleotide binding oligomerization domain containing 2

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

NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232

G

presenilin associated rhomboid like

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

NCBI chr34:16,790,049...16,837,557
Ensembl chr34:16,781,139...16,837,545

G

PTEN induced kinase 1

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

NCBI chr 2:78,276,091...78,293,761
Ensembl chr 2:78,277,077...78,294,123

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 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764

G

RAB32, member RAS oncogene family

CTD Direct Evidence: marker/mechanism

NCBI chr 1:37,706,809...37,719,044
Ensembl chr 1:37,712,142...37,718,266

G

receptor interacting serine/threonine kinase 2

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

NCBI chr29:35,283,209...35,311,608
Ensembl chr29:35,282,072...35,311,333

G

solute carrier family 11 member 1

susceptibility

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

PMID:10608779 PMID:15755200 PMID:16597321

RGD:5684957 RGD:5684972

NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282

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)

OMIM
ClinVar
RGD

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

NCBI chr 3:73,504,359...73,544,822
Ensembl chr 3:73,539,715...73,544,624

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 chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241

G

toll like receptor 6

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

NCBI chr 3:73,504,357...73,523,964
Ensembl chr 3:73,520,706...73,523,099

G

tumor necrosis factor

susceptibility

DNA:SNP:promoter:−308G>A (human)

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

TNF superfamily member 15

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

NCBI chr11:68,887,858...68,909,406
Ensembl chr11:68,893,084...68,909,602

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355

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:75,270,952...75,302,663
Ensembl chr X:75,270,979...75,302,562

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 chr17:38,396,022...38,400,508
Ensembl chr17:38,369,414...38,400,508

G

CCAAT enhancer binding protein beta

severity

NCBI chr24:36,661,294...36,663,162
Ensembl chr24:36,661,616...36,662,656

G

CYLD lysine 63 deubiquitinase

CTD Direct Evidence: marker/mechanism

NCBI chr 2:64,561,684...64,628,829
Ensembl chr 2:64,562,503...64,628,175

G

interleukin 15

protein:increased expression:epithelial cell, intestine

NCBI chr19:1,339,607...1,364,762
Ensembl chr19:1,339,967...1,364,762

G

interleukin 17D

severity

NCBI chr25:17,386,815...17,390,315

G

interleukin 1 receptor antagonist

susceptibility

NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329

G

interleukin 23 subunit alpha

PMID:19923464 PMID:22966045

RGD:39457955 RGD:39457958

NCBI chr10:635,384...640,715
Ensembl chr10:638,719...640,359

G

interleukin 33

treatment

NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721

G

metallothionein-1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:59,603,021...59,604,173
Ensembl chr 2:59,603,014...59,604,132

G

microRNA mir-21

exacerbates

NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624

G

metallothionein 1H

CTD Direct Evidence: marker/mechanism

NCBI chr 2:59,607,926...59,608,825
Ensembl chr 2:59,607,927...59,626,727

G

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

NCBI chr 5:62,884,596...62,936,882
Ensembl chr 5:62,909,009...62,935,971

G

receptor interacting serine/threonine kinase 3

exacerbates

NCBI chr 8:4,304,167...4,309,514
Ensembl chr 8:4,305,250...4,309,325

G

stimulator of interferon response cGAMP interactor 1

PMID:21098106 PMID:23378430

RGD:39128219 RGD:39128233

NCBI chr 2:34,783,947...34,792,204
Ensembl chr 2:34,784,232...34,789,072

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:16177108 PMID:21699557

NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355

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

NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291

G

tumor necrosis factor

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

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 chr26:28,301,455...28,315,029

G

MHC class II DLA DRB1 beta chain

DNA:polymorphism (human)

NCBI chr12:2,151,409...2,164,564

G

solute carrier family 11 member 1

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

NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282

multidrug-resistant tuberculosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

major histocompatibility complex, class II, DQ beta 1

DNA:polymorphisms (human)

NCBI chr12:2,305,307...2,307,711

G

forkhead box P3

mRNA:increased expression:peripheral blood:

NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758

G

MHC class II DLA DRB1 beta chain

DNA:polymorphism (human)

NCBI chr12:2,151,409...2,164,564

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 chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844

G

C-X-C motif chemokine ligand 8

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

NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

interleukin 17A

NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513

G

interleukin 32

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

NCBI chr 6:38,119,287...38,122,979

G

tumor necrosis factor

associated with HIV Infections

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

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 chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358

G

CD36 molecule (CD36 blood group)

NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639

G

defensin, beta 4A

protein:increased expression:plasma, respiratory system fluid/secretion

NCBI chr16:58,953,916...58,956,407
Ensembl chr16:58,953,916...58,956,407

G

MHC class II DLA DRB1 beta chain

susceptibility

associated with pulmonary sarcoidosis

NCBI chr12:2,151,409...2,164,564

G

interferon gamma

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

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

G

interferon gamma receptor 1

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

PMID:15589309 PMID:21266457

RGD:6480268 RGD:6480429

NCBI chr 1:29,646,776...29,669,669
Ensembl chr 1:29,647,552...29,669,578

G

interleukin 22

NCBI chr10:10,487,367...10,492,238
Ensembl chr10:10,487,262...10,492,371

G

interleukin 32

ameliorates

human gene in a mouse model

NCBI chr 6:38,119,287...38,122,979

G

receptor interacting serine/threonine kinase 3

ameliorates

NCBI chr 8:4,304,167...4,309,514
Ensembl chr 8:4,305,250...4,309,325

G

solute carrier family 11 member 1

DNA:point mutation (mouse)

NCBI chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282

G

signal transducer and activator of transcription 1

CTD Direct Evidence: marker/mechanism

NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178

G

TNF receptor superfamily member 8

CTD Direct Evidence: therapeutic

NCBI chr 2:84,185,445...84,225,986
Ensembl chr 2:84,186,961...84,232,675

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:15316035 PMID:18941223

NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355

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 chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977

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 1:29,646,776...29,669,669
Ensembl chr 1:29,647,552...29,669,578

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 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228

G

interleukin 18

NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348

G

interleukin 1 receptor type 1

NCBI chr10:40,825,986...40,897,898
Ensembl chr10:40,827,377...40,897,596

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 1:29,506,582...29,545,882
Ensembl chr 1:29,506,689...29,546,006

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 1:29,611,096...29,631,811
Ensembl chr 1:29,611,722...29,631,473

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 1:29,919,043...29,921,713
Ensembl chr 1:29,920,190...29,921,008

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 1:29,337,362...29,423,608
Ensembl chr 1:29,337,386...29,418,126

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 1:29,426,003...29,429,272
Ensembl chr 1:29,425,559...29,428,270

G

signal transducer and activator of transcription 1

susceptibility

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

NCBI chr37:1,513,438...1,549,837
Ensembl chr37:1,507,219...1,550,178

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 1:30,247,432...30,262,992
Ensembl chr 1:30,251,059...30,261,001

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 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

Paratuberculosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amine oxidase copper containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:20,158,581...20,179,773
Ensembl chr 9:20,157,410...20,241,376

G

complement C1r

CTD Direct Evidence: marker/mechanism

NCBI chr27:37,951,137...37,960,687
Ensembl chr27:37,950,246...37,960,557

G

complement C3

CTD Direct Evidence: marker/mechanism

NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761

G

coagulation factor II, thrombin

CTD Direct Evidence: marker/mechanism

NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459

G

gelsolin

CTD Direct Evidence: marker/mechanism

NCBI chr11:74,248,227...74,268,129
Ensembl chr11:74,233,457...74,268,129

G

serotransferrin

CTD Direct Evidence: marker/mechanism

NCBI chr23:30,658,250...30,683,816
Ensembl chr23:30,595,704...30,683,845

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 chr26:28,301,455...28,315,029

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 chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160

G

adenosine deaminase 2

treatment

NCBI chr27:44,883,573...44,912,930
Ensembl chr27:44,884,882...44,912,850

G

C-C motif chemokine ligand 22

NCBI chr 2:59,039,650...59,045,519
Ensembl chr 2:59,040,539...59,045,625

G

C-C motif chemokine receptor 2

NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698

G

C-C motif chemokine receptor 5

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

NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952

G

forkhead box P3

disease_progression

associated with human immunodeficiency virus infectious disease;

NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758

G

interleukin 1 beta

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

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 1 receptor antagonist

DNA:repeat (human)

NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329

G

interleukin 27

exacerbates

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

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

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

NCBI chr 6:18,243,988...18,248,369
Ensembl chr 6:18,244,040...18,247,635

G

interleukin 33

protein:increased expression:pleural fluid:

NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721

G

matrix metallopeptidase 9

protein:increased expression:pleura:

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

toll like receptor 4

NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165

G

tenascin C

protein:increased expression:pleura

NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281

Pneumococcal Infections

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement factor H

exacerbates

NCBI chr38:2,878,677...2,956,226

G

interleukin 17A

susceptibility

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

NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513

G

interleukin 27

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

NCBI chr 6:18,243,988...18,248,369
Ensembl chr 6:18,244,040...18,247,635

G

NFKB inhibitor alpha

susceptibility

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

PMID:17463416 PMID:29407193

RGD:127285388 RGD:127285391

NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433

G

TIR domain containing adaptor protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:8,222,217...8,237,595
Ensembl chr 5:8,221,794...8,226,074

G

toll like receptor 9

NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114

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 chr17:6,589,874...6,638,788
Ensembl chr17:6,589,878...6,638,731

G

aquaporin 4

treatment

protein:increased expression:brain:

NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089

G

ATM serine/threonine kinase

ameliorates

NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

G

cathelicidin antimicrobial peptide

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

NCBI chr20:40,790,823...40,792,781
Ensembl chr20:40,790,811...40,792,794

G

cysteinyl leukotriene receptor 1

disease_progression

mRNA, protein:increased expression:brain (rat)

NCBI chr X:60,462,290...60,513,155
Ensembl chr X:60,463,526...60,464,548

G

cysteinyl leukotriene receptor 2

mRNA, protein:increased expression:brain (rat)

NCBI chr22:2,914,960...2,962,517
Ensembl chr22:2,917,514...2,918,551

G

indoleamine 2,3-dioxygenase 1

treatment

NCBI chr16:25,391,759...25,407,161
Ensembl chr16:25,391,754...25,407,048

G

interleukin 6

treatment

protein:increased expression:brain

PMID:8943431 PMID:11581077 PMID:25443778

RGD:11060264 RGD:11062107 RGD:9831197

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

galectin 3

mRNA, protein:increased expression:brain

NCBI chr 8:30,977,438...30,994,711
Ensembl chr 8:30,983,633...30,994,705

G

galectin 9

NCBI chr 9:42,154,613...42,170,423
Ensembl chr 9:42,154,702...42,170,391

G

macrophage receptor with collagenous structure

protein:increased expression:meninges, astrocyte

NCBI chr19:30,996,209...31,034,520
Ensembl chr19:30,996,347...31,034,487

G

matrix metallopeptidase 2

treatment

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

matrix metallopeptidase 9

treatment

protein:increased expression:cerebrospinal fluid

PMID:17371820 PMID:24419461

RGD:1642043 RGD:8657111

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

nucleotide binding oligomerization domain containing 2

mRNA, protein:increased expression:brain

NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232

G

neurotrophic receptor tyrosine kinase 2

mRNA:increased expression:brain

NCBI chr 1:74,447,927...74,777,910
Ensembl chr 1:74,449,060...74,777,032

G

RELA proto-oncogene, NF-kB subunit

protein:increased expression:brain, nucleus

NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875

G

serpin family G member 1

treatment

NCBI chr18:38,570,354...38,580,751
Ensembl chr18:38,570,607...38,581,665

G

toll like receptor 2

mRNA:increased expression: :

NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241

G

toll like receptor 4

mRNA:increased expression: :

NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165

G

toll like receptor 9

mRNA:increased expression: :

NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114

G

tumor necrosis factor

disease_progression

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

PMID:25443778 PMID:31933824

RGD:40903068 RGD:9831197

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

Pneumococcal Pneumonia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activation induced cytidine deaminase

NCBI chr27:37,064,107...37,073,791
Ensembl chr27:37,064,080...37,073,789

G

arachidonate 5-lipoxygenase

NCBI chr28:2,170,920...2,218,765
Ensembl chr28:2,170,920...2,219,609

G

Bruton tyrosine kinase

ameliorates

NCBI chr X:75,270,952...75,302,663
Ensembl chr X:75,270,979...75,302,562

G

complement C3

disease_progression

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

PMID:20405 PMID:15972516 PMID:17956621

RGD:5129509 RGD:5129523 RGD:5130163

NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761

G

complement C5

severity

NCBI chr11:73,953,727...74,029,919
Ensembl chr11:73,953,727...74,029,851

G

C-C motif chemokine ligand 5

susceptibility

NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852

G

CD14 molecule

NCBI chr 2:35,790,505...35,792,967

G

chitinase 3 like 1

protein:increased secretion:serum (human)

NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427

G

corticotropin releasing hormone receptor 1

NCBI chr 9:9,708,696...9,763,281
Ensembl chr 9:9,714,204...9,763,402

G

corticotropin releasing hormone receptor 2

NCBI chr14:43,366,849...43,414,398
Ensembl chr14:43,368,340...43,415,142

G

C-reactive protein

disease_progression

NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

defensin, beta 4A

CTD Direct Evidence: marker/mechanism

NCBI chr16:58,953,916...58,956,407
Ensembl chr16:58,953,916...58,956,407

G

heme oxygenase 1

associated with influenza;protein:increased expression:lung

NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773

G

interleukin 15

protein:increased expression:alveolar macrophage, bronchial epithelial cell

NCBI chr19:1,339,607...1,364,762
Ensembl chr19:1,339,967...1,364,762

G

interleukin 15 receptor subunit alpha

NCBI chr 2:29,981,385...30,034,364
Ensembl chr 2:29,981,234...30,038,945

G

interleukin 17A

NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513

G

interleukin 18

NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348

G

interleukin 6

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

leptin

NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395

G

leptin receptor

NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636

G

mitogen-activated protein kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998

G

mitogen-activated protein kinase 3

CTD Direct Evidence: marker/mechanism

NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425

G

MBL associated serine protease 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:84,976,366...84,987,376
Ensembl chr 2:84,976,456...84,989,797

G

mannose binding lectin 1

no_association

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

PMID:12047967 PMID:18641104

RGD:4889477 RGD:4889478

NCBI chr 4:29,419,886...29,424,377

G

nitric oxide synthase 2

NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588

G

phosphatase and tensin homolog

ameliorates

myeloid knockout

NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176

G

surfactant protein D

severity

NCBI chr 4:29,394,755...29,407,499
Ensembl chr 4:29,394,678...29,407,293

G

sirtuin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:19,188,616...19,220,031
Ensembl chr 4:19,188,675...19,218,279

G

stimulator of interferon response cGAMP interactor 1

NCBI chr 2:34,783,947...34,792,204
Ensembl chr 2:34,784,232...34,789,072

G

toll like receptor 2

NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241

G

tumor necrosis factor

associated with influenza;protein:increased expression:lung

PMID:9032201 PMID:17348295

RGD:4143479 RGD:4145366

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

triggering receptor expressed on myeloid cells 1

ameliorates

PMID:19596984 PMID:24752755

RGD:126928121 RGD:127229903

NCBI chr12:9,990,678...10,000,195
Ensembl chr12:9,990,679...10,000,236

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 chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727

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 chr24:32,083,786...32,119,810
Ensembl chr24:32,083,931...32,111,160

G

adenosine deaminase 2

protein:increased activity:sputum:

NCBI chr27:44,883,573...44,912,930
Ensembl chr27:44,884,882...44,912,850

G

adiponectin, C1Q and collagen domain containing

protein:increased expression:plasma

NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844

G

AKT serine/threonine kinase 1

susceptibility

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

NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193

G

arachidonate 5-lipoxygenase

susceptibility

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

NCBI chr28:2,170,920...2,218,765
Ensembl chr28:2,170,920...2,219,609

G

ArfGAP with SH3 domain, ankyrin repeat and PH domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:27,111,785...27,468,476
Ensembl chr13:27,113,994...27,430,758

G

activating transcription factor 3

mRNA,protein:increased expression:lung

NCBI chr 7:10,784,445...10,795,285
Ensembl chr 7:10,782,064...10,794,163

G

complement C3

NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761

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 chr 9:38,931,895...38,936,969
Ensembl chr 9:38,933,514...38,961,187

G

C-C motif chemokine ligand 19

mRNA:increased expression:lung

NCBI chr11:51,357,706...51,359,207
Ensembl chr11:51,340,530...51,359,365

G

C-C motif chemokine ligand 2

susceptibility

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

PMID:16352737 PMID:18940815 PMID:20111728

NCBI chr 9:39,008,187...39,009,932

G

C-C motif chemokine ligand 5

susceptibility

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

PMID:15128813 PMID:19335954

RGD:4891879 RGD:4892112

NCBI chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852

G

C-C motif chemokine receptor 2

disease_progression

NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698

G

C-C motif chemokine receptor 5

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

NCBI chr20:42,293,288...42,297,952
Ensembl chr20:42,294,996...42,297,952

G

CD14 molecule

susceptibility

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

NCBI chr 2:35,790,505...35,792,967

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 chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106

G

CD1d molecule

susceptibility

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

NCBI chr38:23,489,169...23,491,712

G

CD209 molecule

susceptibility

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

PMID:16379498 PMID:19126442 PMID:24874302

RGD:39938981 RGD:39939062

NCBI chr20:52,517,759...52,542,085
Ensembl chr20:52,518,036...52,520,942

G

CD274 molecule

protein:increased expression:Tcell, B cell, monocyte

NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522

G

CD36 molecule (CD36 blood group)

susceptibility

DNA:SNPs: :rs1194182, rs10499859(human)

NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639

G

CD86 molecule

protein:decreased expression:sputum, macrophage (human)

NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087

G

C-reactive protein

severity

associated with HIV Infections

PMID:21197091 PMID:21219690

RGD:5131284 RGD:5131287

NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166

G

C-X-C motif chemokine ligand 10

treatment

NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979

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 chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

cytochrome b-245 alpha chain

no_association

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

NCBI chr 5:64,692,865...64,701,056
Ensembl chr 5:64,692,123...64,704,893

G

DNA damage inducible transcript 3

mRNA,protein:increased expression:lung

NCBI chr10:1,606,693...1,612,410
Ensembl chr10:1,606,693...1,611,303

G

major histocompatibility complex, class II, DQ beta 1

susceptibility
disease_progression

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

PMID:19230186 PMID:24024195 PMID:28612994

RGD:36049753 RGD:36049765 RGD:5147614

NCBI chr12:2,305,307...2,307,711

G

epidermal growth factor receptor

disease_progression

associated with lung adenocarcinoma;

PMID:22173705 PMID:29621876

RGD:38599162 RGD:38599176

NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631

G

epiregulin

susceptibility

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

NCBI chr13:62,857,325...62,877,831
Ensembl chr13:62,856,709...62,877,760

G

forkhead box P3

susceptibility

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

NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758

G

1,4-alpha-glucan branching enzyme 1

DNA:SNP:intron:rs2307058 (human)

NCBI chr31:5,742,744...6,010,881
Ensembl chr31:5,742,744...6,093,612

G

hepatitis A virus cellular receptor 2

NCBI chr 4:53,018,990...53,032,035
Ensembl chr 4:53,012,234...53,033,393

G

MHC class II DLA DRB1 beta chain

susceptibility

DNA:polymorphism:cds:HLA-DRB1*0201(human)
DNA:polymorphism: :HLA-DRB1*09:01(human)

PMID:24024195 PMID:28612994

RGD:36049753 RGD:36049765

NCBI chr12:2,151,409...2,164,564

G

indoleamine 2,3-dioxygenase 1

treatment

NCBI chr16:25,391,759...25,407,161
Ensembl chr16:25,391,754...25,407,048

G

interleukin 13

mRNA:increased expression:Leukocytes, Mononuclear

NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388

G

interleukin 15

mRNA, protein:increased expression:lung

NCBI chr19:1,339,607...1,364,762
Ensembl chr19:1,339,967...1,364,762

G

interleukin 18

protein:increased expression:serum

NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348

G

interleukin 1 alpha

NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435

G

interleukin 1 beta

susceptibility
severity

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

PMID:10543265 PMID:10631206 PMID:16634865

RGD:4143179 RGD:4143180 RGD:5147843

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 1 receptor like 1

NCBI chr10:40,658,191...40,732,097
Ensembl chr10:40,659,041...40,677,357

G

interleukin 1 receptor antagonist

severity

protein:increased expression:lung, serum

PMID:10543265 PMID:10631206 PMID:14619382

RGD:4143174 RGD:4143179 RGD:4143180

NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329

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 chr10:635,384...640,715
Ensembl chr10:638,719...640,359

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

NCBI chr 6:18,243,988...18,248,369
Ensembl chr 6:18,244,040...18,247,635

G

interleukin 27 receptor subunit alpha

NCBI chr20:48,456,766...48,475,414
Ensembl chr20:48,457,134...48,472,450

G

interleukin 32

treatment

NCBI chr 6:38,119,287...38,122,979

G

interleukin 33

NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721

G

interleukin 4

severity

NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534

G

interleukin 4 receptor

protein:decreased expression:serum

NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291

G

interleukin 6

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

interleukin 6 receptor

protein:decreased expression:T cell

NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090

G

interferon regulatory factor 1

NCBI chr11:20,773,801...20,781,106
Ensembl chr11:20,760,120...20,781,608

G

inter-alpha-trypsin inhibitor heavy chain 4

protein:increased expression:urine

G

Jun proto-oncogene, AP-1 transcription factor subunit

protein:decreased phosphorylation:macrophage, nucleus

NCBI chr 5:50,966,698...50,968,939

G

lipocalin 2

disease_progression
exacerbates

PMID:19050270 PMID:30534124

RGD:126779558 RGD:126779565

NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038

G

pulmonary surfactant-associated protein A-like

susceptibility

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

PMID:12476938 PMID:16292672

RGD:4144874 RGD:4144875

NCBI chr 4:29,430,139...29,434,640

G

lymphotoxin alpha

susceptibility

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

NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067

G

macrophage receptor with collagenous structure

susceptibility

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

PMID:23617307 PMID:27853145 PMID:28693442

RGD:41412192 RGD:41412194 RGD:41412195

NCBI chr19:30,996,209...31,034,520
Ensembl chr19:30,996,347...31,034,487

G

mannose binding lectin 1

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

NCBI chr 4:29,419,886...29,424,377

G

macrophage migration inhibitory factor

susceptibility

DNA:SNP: :rs755622 (human)

G

microRNA mir-30a

disease_progression

NCBI chr12:33,783,894...33,783,956
Ensembl chr12:33,783,891...33,783,961

G

matrix metallopeptidase 3 (stromelysin 1, progelatinase)

CTD Direct Evidence: marker/mechanism

NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222

G

matrix metallopeptidase 7

CTD Direct Evidence: marker/mechanism

NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153

G

matrix metallopeptidase 8

CTD Direct Evidence: marker/mechanism

NCBI chr 5:29,036,381...29,047,180
Ensembl chr 5:29,035,820...29,046,808

G

matrix metallopeptidase 9

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

NFKB inhibitor alpha

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

NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433

G

nucleotide binding oligomerization domain containing 2

susceptibility

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

NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232

G

nitric oxide synthase 2

DNA:SNPs:multiple (human)

NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588

G

programmed cell death 1

treatment

protein:increased expression:Tcell, B cell, monocyte

NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723

G

programmed cell death 1 ligand 2

protein:increased expression:Tcell, B cell, monocyte

NCBI chr 1:93,631,676...93,698,560
Ensembl chr 1:93,631,979...93,689,266

G

plasminogen activator, urokinase receptor

severity

NCBI chr 1:111,476,804...111,490,876
Ensembl chr 1:111,476,893...111,490,880

G

protein tyrosine phosphatase non-receptor type 22

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

NCBI chr17:51,623,628...51,683,039
Ensembl chr17:51,623,623...51,682,858

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 chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282

G

transporter 1, ATP binding cassette subfamily B member

associated with HIV Infections;

NCBI chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303

G

transporter 2, ATP binding cassette subfamily B member

susceptibility

DNA:polymorphism: :

NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303

G

toll like receptor 1

mRNA:increased expression:blood

NCBI chr 3:73,504,359...73,544,822
Ensembl chr 3:73,539,715...73,544,624

G

toll like receptor 2

susceptibility

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

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

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

NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241

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 chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165

G

toll like receptor 9

DNA:snps:multiple (human)

NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114

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 chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

triggering receptor expressed on myeloid cells 1

disease_progression

NCBI chr12:9,990,678...10,000,195
Ensembl chr12:9,990,679...10,000,236

G

vitamin D receptor

susceptibility

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

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

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

NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470

renal tuberculosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 4 receptor

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

PMID:19548368 PMID:21251883

RGD:5128510 RGD:7207069

NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291

rheumatic fever

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

major histocompatibility complex, class II, DQ beta 1

DNA:polymorphisms, haplotypes:multiple

NCBI chr12:2,305,307...2,307,711

G

GC vitamin D binding protein

NCBI chr13:60,795,305...60,828,038
Ensembl chr13:60,795,305...60,827,929

G

MHC class II DLA DRB1 beta chain

DNA:polymorphisms, haplotypes:multiple

NCBI chr12:2,151,409...2,164,564

G

intercellular adhesion molecule 1

protein:increased expression:serum

NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914

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 chr26:38,700,434...38,714,915
Ensembl chr26:38,700,480...38,711,753

G

BCL2 associated X, apoptosis regulator

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

NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464

G

CD209 molecule

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

NCBI chr20:52,517,759...52,542,085
Ensembl chr20:52,518,036...52,520,942

G

CD36 molecule (CD36 blood group)

mRNA:decreased expression:blood, mononuclear cell

NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639

G

collagen type I alpha 1 chain

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

NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927

G

collagen type III alpha 1 chain

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

NCBI chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765

G

major histocompatibility complex, class II, DQ beta 1

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

NCBI chr12:2,305,307...2,307,711

G

ficolin 3

ClinVar Annotator: match by term: Rheumatic heart disease

G

MHC class II DLA DRB1 beta chain

susceptibility

DNA:polymorphism:cds:HLA-DRB1*13 (human)
DNA:polymorphism (human)

PMID:16426242 PMID:17578051

RGD:5147630 RGD:5147643

NCBI chr12:2,151,409...2,164,564

G

insulin like growth factor 1

NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794

G

interleukin 10

no_association

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

inhibin subunit beta A

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

NCBI chr18:8,272,978...8,288,432
Ensembl chr18:8,272,872...8,283,794

G

lymphoid enhancer binding factor 1

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

NCBI chr32:28,516,002...28,633,759
Ensembl chr32:28,517,108...28,634,019

G

glyceraldehyde-3-phosphate dehydrogenase-like

NCBI chr X:51,925,654...51,926,724

G

microRNA mir-155

NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833

G

matrix metallopeptidase 9

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

snail family transcriptional repressor 1

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

NCBI chr24:36,498,343...36,503,623
Ensembl chr24:36,498,062...36,503,628

G

suppressor of cytokine signaling 1

treatment

NCBI chr 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557

G

twist family bHLH transcription factor 1

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

G

zinc finger E-box binding homeobox 1

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

NCBI chr 2:15,300,401...15,481,535
Ensembl chr 2:15,299,723...15,481,495

G

zinc finger E-box binding homeobox 2

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

NCBI chr19:46,419,812...46,541,888
Ensembl chr19:46,423,998...46,542,122

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 chr11:74,248,227...74,268,129
Ensembl chr11:74,233,457...74,268,129

G

intercellular adhesion molecule 1

severity

protein:increased expression:serum

NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914

G

selectin E

severity

protein:increased expression:serum

NCBI chr 7:28,888,503...28,898,787
Ensembl chr 7:28,888,197...28,898,786

G

vascular cell adhesion molecule 1

severity

protein:increased expression:serum

NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933

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 2:34,783,947...34,792,204
Ensembl chr 2:34,784,232...34,789,072

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 chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358

G

CD163 molecule

exacerbates

NCBI chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106

G

CD36 molecule (CD36 blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

interleukin 10

treatment

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 2

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

interleukin 4

susceptibility

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

NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534

G

interleukin 1 receptor associated kinase 3

treatment

NCBI chr10:8,683,541...8,730,757
Ensembl chr10:8,684,242...8,729,268

G

lactotransferrin

NCBI chr20:42,231,994...42,263,202
Ensembl chr20:42,231,994...42,263,202

G

signal transducer and activator of transcription 2

ameliorates

associated with influenza A

NCBI chr10:641,543...660,882
Ensembl chr10:642,718...658,546

G

toll like receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241

G

5'-3' exoribonuclease 1

susceptibility

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

NCBI chr23:38,031,633...38,131,413
Ensembl chr23:38,032,841...38,131,293

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 chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193

G

CD86 molecule

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

NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087

G

CF transmembrane conductance regulator

NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977

G

colony stimulating factor 3

treatment

NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108

G

fibronectin 1

NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123

G

interferon alpha and beta receptor subunit 1

susceptibility

NCBI chr31:28,854,765...28,876,399

G

interleukin 10

mRNA, protein:increased expression:lung

NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057

G

interleukin 15

NCBI chr19:1,339,607...1,364,762
Ensembl chr19:1,339,967...1,364,762

G

interleukin 1 beta

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 33

mRNA:increased expression:lung:

NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721

G

nucleotide binding oligomerization domain containing 2

NCBI chr 2:64,636,850...64,667,232
Ensembl chr 2:64,635,519...64,667,232

G

parkin RBR E3 ubiquitin protein ligase

protein:increased expression:lung (mouse)

NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764

G

protein tyrosine phosphatase non-receptor type 11

severity

mRNA:increased expression:lung
associated with influenza

NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481

G

receptor interacting serine/threonine kinase 3

treatment

NCBI chr 8:4,304,167...4,309,514
Ensembl chr 8:4,305,250...4,309,325

G

surfactant protein B

ameliorates

NCBI chr17:39,419,305...39,428,513
Ensembl chr17:39,386,584...39,426,229

Staphylococcal Skin Infections

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 17A

NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513

G

interleukin 18

treatment

NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348

G

interleukin 33

treatment

mRNA,protein:increased expression:skin

NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721

G

receptor interacting serine/threonine kinase 3

ameliorates

NCBI chr 8:4,304,167...4,309,514
Ensembl chr 8:4,305,250...4,309,325

G

serpin family F member 1

severity

NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765

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 chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087

G

interleukin 17A

protein:increased expression:serum (mouse)

NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513

G

lipocalin 2

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

NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038

G

MX dynamin like GTPase 1

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

NCBI chr31:35,898,206...35,929,802
Ensembl chr31:35,860,590...35,951,350

G

toll like receptor 2

severity

NCBI chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241

G

tumor necrosis factor

associated with Otitis Media

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

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 chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207

G

Bruton tyrosine kinase

NCBI chr X:75,270,952...75,302,663
Ensembl chr X:75,270,979...75,302,562

G

indoleamine 2,3-dioxygenase 1

mRNA:increased expression:lung (mouse)

NCBI chr16:25,391,759...25,407,161
Ensembl chr16:25,391,754...25,407,048

G

interferon gamma

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

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

G

interleukin 6

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

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

interleukin 1 receptor associated kinase 3

severity

NCBI chr10:8,683,541...8,730,757
Ensembl chr10:8,684,242...8,729,268

G

integrin subunit beta 2

susceptibility

NCBI chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018

G

lysosomal associated membrane protein 1

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

NCBI chr22:60,678,116...60,695,619
Ensembl chr22:60,678,111...60,694,924

G

macrophage receptor with collagenous structure

exacerbates

NCBI chr19:30,996,209...31,034,520
Ensembl chr19:30,996,347...31,034,487

G

natural cytotoxicity triggering receptor 1

severity

NCBI chr 1:102,686,058...102,690,350
Ensembl chr 1:102,686,058...102,690,620

G

programmed cell death 1

treatment

NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723

G

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

treatment

associated with immunodeficiency 14

NCBI chr 5:62,884,596...62,936,882
Ensembl chr 5:62,909,009...62,935,971

G

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

severity

NCBI chr18:13,576,966...13,611,748
Ensembl chr18:13,570,999...13,611,141

G

receptor interacting serine/threonine kinase 3

exacerbates

NCBI chr 8:4,304,167...4,309,514
Ensembl chr 8:4,305,250...4,309,325

G

tumor necrosis factor

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

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

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 chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303

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 chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129

G

butyrophilin like 2

susceptibility
no_association

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

PMID:17347014 PMID:20176143

RGD:9685035 RGD:9685036

NCBI chr12:2,085,589...2,106,787
Ensembl chr12:2,086,324...2,107,124

G

cystathionine beta-synthase

severity

protein:increased expression:macrophages (mouse)

NCBI chr31:37,230,900...37,247,170

G

C-C motif chemokine ligand 1

susceptibility

DNA:SNP: :rs159294, rs210837, rs10491110 (human)

NCBI chr 9:38,931,895...38,936,969
Ensembl chr 9:38,933,514...38,961,187

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 chr 9:39,008,187...39,009,932

G

chemokine (C-C motif) ligand 4

severity

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

NCBI chr 9:37,681,342...37,682,691
Ensembl chr 9:37,676,966...37,710,209

G

CD209 molecule

susceptibility

ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to

PMID:15564514 PMID:15838506 PMID:16379498 PMID:25741868

NCBI chr20:52,517,759...52,542,085
Ensembl chr20:52,518,036...52,520,942

G

CD274 molecule

mRNA, protein:increased expression:blood, neutrophil

NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522

G

CD86 molecule

protein:increased expression:lung (mouse)

NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087

G

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 chr17:38,396,022...38,400,508
Ensembl chr17:38,369,414...38,400,508

G

CCAAT enhancer binding protein beta

mRNA:increased expression:lung, spleen (mouse)

NCBI chr24:36,661,294...36,663,162
Ensembl chr24:36,661,616...36,662,656

G

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 chr 6:31,774,486...31,837,025
Ensembl chr 6:31,774,609...31,836,820

G

cytokine inducible SH2 containing protein

susceptibility

ClinVar Annotator: match by term: Tuberculosis, susceptibility to

NCBI chr20:38,762,239...38,767,701
Ensembl chr20:38,762,378...38,766,620

G

coronin 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:18,161,850...18,167,915
Ensembl chr 6:18,160,601...18,167,818

G

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 chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354

G

cytochrome P450 2B11

treatment

DNA:SNPs: :c.516G>T (rs3745274) and c.785A>G (rs2279343)(human)
associated with human immunodeficiency virus infectious disease; ;DNA:SNP: :516G>T (rs3745274)(human)

PMID:28389387 PMID:30239753

RGD:41410886 RGD:41412160

NCBI chr 1:112,817,561...112,833,294
Ensembl chr 1:112,816,502...112,833,293

G

major histocompatibility complex, class II, DQ beta 1

susceptibility

associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-DQB1*05

NCBI chr12:2,305,307...2,307,711

G

MHC class I DLA-88

susceptibility

associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-B41

NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690

G

epiregulin

susceptibility

DNA:SNP:intron: (rs7675690) (human)

NCBI chr13:62,857,325...62,877,831
Ensembl chr13:62,856,709...62,877,760

G

hyaluronan synthase 1

NCBI chr 1:105,376,091...105,386,043
Ensembl chr 1:105,376,536...105,385,134

G

MHC class II DLA DRB1 beta chain

susceptibility

DNA:polymorphism (human)
associated with acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-BRB1*10

PMID:17153701 PMID:19030725 PMID:21251479

RGD:36049809 RGD:5147605 RGD:5147633

NCBI chr12:2,151,409...2,164,564

G

interferon gamma

ClinVar Annotator: match by term: Mycobacterium tuberculosis, protection against

PMID:10663562 PMID:11053629 PMID:12788577 PMID:18414898

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

G

interferon gamma receptor 1

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 1:29,646,776...29,669,669
Ensembl chr 1:29,647,552...29,669,578

G

interleukin 12 receptor subunit beta 1

ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to

PMID:9603733 PMID:12591909 PMID:28492532

NCBI chr20:44,885,410...44,908,139
Ensembl chr20:44,885,337...44,904,538

G

interleukin 15

mRNA:altered expression:lung, spleen

NCBI chr19:1,339,607...1,364,762
Ensembl chr19:1,339,967...1,364,762

G

interleukin 22

NCBI chr10:10,487,367...10,492,238
Ensembl chr10:10,487,262...10,492,371

G

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

NCBI chr 6:18,243,988...18,248,369
Ensembl chr 6:18,244,040...18,247,635

G

interleukin 33

associated with Pleural Effusion;protein:increased expression:pleural biopsy

NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721

G

interleukin 1 receptor associated kinase 3

mRNA, protein:increased expression:sputum (human)

NCBI chr10:8,683,541...8,730,757
Ensembl chr10:8,684,242...8,729,268

G

killer cell lectin like receptor K1

treatment

PMID:16619285 PMID:23922903

RGD:39018558 RGD:39128143

NCBI chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882

G

immunity-related GTPase family M protein

NCBI chr11:793,416...795,373
Ensembl chr11:793,424...794,617

G

MAPK activated protein kinase 3

ClinVar Annotator: match by term: Tuberculosis, susceptibility to

NCBI chr20:38,731,492...38,759,000
Ensembl chr20:38,732,397...38,758,494

G

NFE2 like bZIP transcription factor 2

treatment

DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human)

NCBI chr36:20,989,205...21,087,044
Ensembl chr36:20,989,360...21,012,524

G

neuregulin 1

susceptibility

DNA:SNP, haplotype: (rs16879814)

NCBI chr16:31,697,958...32,771,888
Ensembl chr16:31,706,851...32,771,932

G

programmed cell death 1

treatment

NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723

G

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

NCBI chr18:13,576,966...13,611,748
Ensembl chr18:13,570,999...13,611,141

G

receptor interacting serine/threonine kinase 3

exacerbates

NCBI chr 8:4,304,167...4,309,514
Ensembl chr 8:4,305,250...4,309,325

G

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 chr37:25,039,203...25,047,461
Ensembl chr37:25,038,360...25,047,282

G

SP110 nuclear body protein

ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to

PMID:16803959 PMID:16816019 PMID:17149599 PMID:24033266 PMID:25741868 More...

NCBI chr25:42,418,565...42,459,098
Ensembl chr25:42,419,980...42,459,051

G

SP140 nuclear body protein

ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to

PMID:16803959 PMID:16816019 PMID:17149599 PMID:25741868 PMID:28492532

NCBI chr25:42,459,013...42,527,141
Ensembl chr25:42,459,084...42,527,093

G

secreted phosphoprotein 1

NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069

G

stimulator of interferon response cGAMP interactor 1

NCBI chr 2:34,783,947...34,792,204
Ensembl chr 2:34,784,232...34,789,072

G

TIR domain containing adaptor protein

ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to

PMID:16991088 PMID:17322885 PMID:18305471 PMID:25741868

NCBI chr 5:8,222,217...8,237,595
Ensembl chr 5:8,221,794...8,226,074

G

toll like receptor 1

susceptibility

DNA:snps, haplotype:cds:p.N248S, p.S602I (human)

NCBI chr 3:73,504,359...73,544,822
Ensembl chr 3:73,539,715...73,544,624

G

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 chr15:51,454,557...51,465,429
Ensembl chr15:51,454,695...51,465,241

G

toll like receptor 4

NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165

G

toll like receptor 6

susceptibility

DNA:missense mutations:cds:multiple (human)

NCBI chr 3:73,504,357...73,523,964
Ensembl chr 3:73,520,706...73,523,099

G

tumor necrosis factor

protein:increased expression:serum

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

TNF receptor superfamily member 1B

DNA:snp:3' utr:g.*215C>T rs3397 (human)

NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355

G

vitamin D receptor

susceptibility

associated with HIV Infections;DNA:SNPs:3' UTR (human)

NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470

Whipple disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD163 molecule

protein:increased expression:duodenum, macrophage (human)

NCBI chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106

Term paths to the root

Path 1
Term	Annotations
disease	17773
disease by infectious agent	2127
Bacterial Infections and Mycoses	1009
bacterial infectious disease	798
Gram-Positive Bacterial Infections	390
Actinomycetales Infections +	316
Bacillaceae Infections +	7
Bifidobacteriales Infections	0
Clostridium Infections +	5
Erysipelothrix Infections +	0
Staphylococcal Infections +	31
Streptococcal Infections +	92
listeriosis +	17

paths to the root