upper respiratory tract disease - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	upper respiratory tract disease	go back to main search page
Accession:	DOID:974	browse the term
Definition:	A respiratory system disease which involves the upper respiratory tract. (DO)
Synonyms:	exact_synonym:	upper respiratory tract disorder
	xref:	ICD9CM:478.19; MONDO:0004867

show annotations for term's descendants Sort by:
Rat (426) Mouse (432) Human (2365) Chinchilla (369) Bonobo (407) Dog (408) Squirrel (379) Pig (406) Green Monkey (398) Naked Mole-rat (370) All
Genes (425) Strains (1)

adenoiditis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 1

ClinVar Annotator: match by term: Chronic adenoiditis

PMID:25741868 PMID:28492532

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

allergic rhinitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1A

severity

DNA:snp:exon:c.1236C>T (human)

RGD

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

G

angiotensin I converting enzyme

no_association

DNA:deletion:intron:IVS16+1464-1751del (human)

RGD

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

G

BCL2, apoptosis regulator

mRNA, protein:increased expression:nasal mucosa (rat)

RGD

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

G

catalase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

C-C motif chemokine ligand 11

treatment

RGD

NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926

G

C-C motif chemokine ligand 26

protein:increased expression:oronasal secretion (human)

RGD

NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335

G

CD40 molecule

protein:increased expression:lymphocyte

RGD

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

G

CD40 ligand

protein:increased expression:lymphocyte

RGD

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

G

claudin 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:21,708,538...21,710,010
Ensembl chr12:21,708,398...21,711,001

G

claudin 7

CTD Direct Evidence: marker/mechanism

NCBI chr10:54,689,684...54,692,177
Ensembl chr10:54,689,987...54,692,171

G

cytotoxic T-lymphocyte-associated protein 4

treatment

RGD

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

G

coagulation factor II, thrombin

protein:increased expression:nasal mucus

RGD

NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486

G

Fc gamma receptor 3A

susceptibility

DNA:polymorphism:exon:p.F158V(rs396991)(human)

RGD

NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921

G

glutamate ionotropic receptor AMPA type subunit 1

CTD Direct Evidence: marker/mechanism

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

G

glutamate ionotropic receptor AMPA type subunit 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:165,949,379...166,069,510
Ensembl chr 2:165,947,521...166,069,510

G

histamine receptor H 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:147,564,963...147,649,353
Ensembl chr 4:147,645,995...147,647,455

G

interferon gamma

treatment

associated with Asthma
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:29871060 PMID:12787306 PMID:18510219

RGD:7829803, RGD:10755770

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

G

interleukin 10

treatment

RGD

PMID:23883806 PMID:23253209

RGD:7364793, RGD:7364818

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

G

interleukin 13

susceptibility
no_association

DNA:polymorphism:exon:c. 2044G>A (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R130Q (rs20541) (human)
DNA:SNPs:promoter, cds:-1112C>T, p.R130Q (rs1800925, rs20541) (human)
DNA:SNP:promoter:-1512A>C (rs1881457) (human)

PMID:17091279 PMID:22852128 PMID:12928861 PMID:23996716

RGD:4152796, RGD:8549518, RGD:8549516, RGD:8549501

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

G

interleukin 13 receptor subunit alpha 2

protein:increased expression:serum

RGD

NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381

G

interleukin 17A

susceptibility

DNA:snp:promoter:c.-444A>G (human)
mRNA:increased expression:peripheral blood mononuclear cell (human)

RGD

PMID:22507625 PMID:21535180

RGD:9068429, RGD:5147409

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

G

interleukin 18

severity
no_association

DNA:SNP:promoter:-137G>C (rs187238) (human)
DNA:SNP:promoter:-140C>G (rs360721) (human)

RGD

PMID:22840759 PMID:22840759

RGD:8655914, RGD:8655914

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

G

interleukin 1 beta

protein:increased expression:nasal mucus

RGD

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

G

interleukin 2

RGD

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

G

interleukin 4

treatment

RGD

PMID:9893928 PMID:24620662 PMID:8908280 PMID:14653048

RGD:7829796, RGD:11522769, RGD:7829827, RGD:7829802

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

G

interleukin 5

treatment

RGD

PMID:23934070 PMID:24620662

RGD:11354976, RGD:11522769

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

G

integrin subunit beta 2

treatment

RGD

NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600

G

mucin 1, cell surface associated

severity

mRNA,protein:decreased expression:nasal mucosa

RGD

PMID:31425778 PMID:31425778 PMID:31425778

RGD:127345100, RGD:127345100, RGD:127345100

NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733

G

mucin 1, cell surface associated; TALEN induced mutant 1, Cgen

severity

RGD

G

mucin 5AC, oligomeric mucus/gel-forming

mRNA, protein:increased expression:nasal cavity epithelium

RGD

NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475

G

nucleotide-binding oligomerization domain containing 2

mRNA:increased expression:nasal mucosa (human)

RGD

NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177

G

occludin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150

G

paraoxonase 1

severity

protein:decreased activity:plasma (human)

RGD

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

protein kinase cGMP-dependent 1

protein:increased expression:nasal cavity epithelium

RGD

NCBI chr 1:228,409,605...229,638,794
Ensembl chr 1:228,408,947...229,639,080

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

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

G

RT1 class Ib, locus M3, gene 1

RGD

NCBI chr20:1,323,976...1,328,126
Ensembl chr20:1,287,521...1,328,117

G

secretoglobin family 1A member 1

mRNA:decreased expression:nasal mucosa, lung

RGD

NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610

G

secretoglobin, family 3A, member 2

susceptibility

DNA:SNP: :rs7726552 (human)

RGD

NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762

G

serpin family E member 1

mRNA:increased expression:nasal mucosa (mouse)

RGD

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

G

tachykinin receptor 1

mRNA:increased expression:nasal mucosa

RGD

NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733

G

transforming growth factor, beta 1

treatment

RGD

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

G

toll-like receptor 2

severity

DNA:polymorphism:cds:p.R753Q(human)
protein:increased expression:neutrophil:
mRNA:decreased expression:nasal mucosa:

RGD

PMID:22402138 PMID:22555057 PMID:18381801 PMID:18219831

RGD:7800732, RGD:8552993, RGD:8552972, RGD:7800742

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

G

toll-like receptor 4

severity
treatment
susceptibility
no_association

DNA:polymorphism:cds:p.D299G(human)
protein:increased expression:nasal lavage,leukocyte, bone marrow:
protein:decreased expression:nasal mucosa:
DNA:SNP: :rs1927911(human)
DNA:polymorphism: :4216G>C(human)

RGD

PMID:22402138 PMID:22555057 PMID:22577387 PMID:17069098 PMID:23639307 More...

RGD:7800732, RGD:8552993, RGD:7800740, RGD:7800738, RGD:7800736, RGD:4145354

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

G

toll-like receptor 9

protein:decreased expression:nasal mucosa:

RGD

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

Allergic Rhinoconjunctivitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytochrome P450, family 2, subfamily C, polypeptide 6

treatment

associated with Eosinophilic Esophagitis; DNA:polymorphisms::

RGD

NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596

G

interleukin 3

susceptibility

DNA:SNP: :rs40401(human)

RGD

NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066

amyotrophic lateral sclerosis type 21

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrin 3

OMIM:606070
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2

OMIM
MouseDO
CTD
ClinVar

PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 More...

NCBI chr18:27,154,098...27,193,212
Ensembl chr18:27,163,714...27,193,166

Arhinia, Choanal Atresia, and Microphthalmia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

structural maintenance of chromosomes flexible hinge domain containing 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arhinia, choanal atresia, and microphthalmia

CTD
ClinVar
OMIM

PMID:672092 PMID:5032329 PMID:6802865 PMID:8446727 PMID:8723126 More...

NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665

Asrar Facharzt Haque Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 29 member 3

ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome

PMID:19175903 PMID:19336477 PMID:19889517 PMID:20595384 PMID:21888995 More...

NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388

Asthma and Nasal Polyps

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RT1 class II, locus Da

susceptibility

DNA:SNPs,haplotype:introns:

RGD

NCBI chr20:4,513,464...4,518,457
Ensembl chr20:4,512,911...4,518,455

G

T-box transcription factor 21

ClinVar Annotator: match by term: Asthma and nasal polyps

NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831

asthma, nasal polyps, and aspirin intolerance

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arachidonate 15-lipoxygenase

ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance

PMID:17959182 PMID:21558275 PMID:30643255

NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874

G

prostaglandin E receptor 2

susceptibility

CTD Direct Evidence: marker/mechanism

NCBI chr15:18,215,013...18,228,714
Ensembl chr15:18,217,285...18,228,714

G

T-box transcription factor 21

ClinVar Annotator: match by term: Asthma, nasal polyps, and aspirin intolerance
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
CTD

NCBI chr10:82,082,322...82,098,831
Ensembl chr10:82,082,322...82,098,831

autosomal dominant distal hereditary motor neuronopathy 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain containing 138

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A

NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376

G

ectodysplasin-A receptor

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A

NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494

G

GRIP and coiled-coil domain containing 2

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A

NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613

G

LIM zinc finger domain containing 1

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A

NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500

G

RAN binding protein 2

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A

NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481

G

solute carrier family 5 member 7

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 More...

NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258

G

sulfotransferase family 1C member 2A

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A

NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734

G

sulfotransferase family 1C member 3

ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A

NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030

Bifid Nose

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Fras1 related extracellular matrix 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543

BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

desmoglein 3

ClinVar Annotator: match by term: Blistering, acantholytic, of oral and laryngeal mucosa

NCBI chr18:11,799,355...11,830,988
Ensembl chr18:11,798,900...11,830,818

BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

PMID:12002153 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31949313 More...

NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325

Bronchomalacia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ryanodine receptor 1

ClinVar Annotator: match by term: Bronchomalacia

PMID:16835904 PMID:24033266 PMID:25741868

NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812

Burn-McKeown syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADNP homeobox 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484

G

ATPase phospholipid transporting 9B (putative)

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953

G

CTD phosphatase subunit 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457

G

galanin receptor 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577

G

heat shock factor binding protein 1-like 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045

G

potassium voltage-gated channel modifier subfamily G member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723

G

myelin basic protein

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404

G

nuclear factor of activated T-cells 1

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028

G

par-6 family cell polarity regulator gamma

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:73,497,992...73,565,048
Ensembl chr18:73,498,021...73,565,029

G

ribosome binding factor A

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:73,639,264...73,648,914
Ensembl chr18:73,639,260...73,648,915

G

spalt-like transcription factor 3

ClinVar Annotator: match by term: Burn-McKeown syndrome

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

G

solute carrier family 66 member 2

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676

G

thioredoxin-like 4A

ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutations,deletions:promoter, cds:
DNA:deletions:promoter:

OMIM
ClinVar
CTD
RGD

PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More...

RGD:11531484, RGD:155882456

NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893

G

zinc finger protein 236

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737

G

zinc finger protein 516

ClinVar Annotator: match by term: Burn-McKeown syndrome

NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269

Charcot-Marie-Tooth Disease Type 4A, Axonal Form

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA oxidase 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive

PMID:25326637 PMID:28492532

NCBI chr10:101,406,197...101,431,252
Ensembl chr10:101,406,197...101,431,232

G

ganglioside-induced differentiation-associated-protein 1

ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More...

NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061

G

leucine rich repeat and sterile alpha motif containing 1

CTD Direct Evidence: marker/mechanism

PMID:22781092 PMID:27686364

NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154

CHITAYAT SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Ets2 repressor factor

ClinVar Annotator: match by term: Chitayat syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:8418638 PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 More...

NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388

choanal atresia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Choanal atresia

PMID:25741868 PMID:31395954

NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325

Choanal Atresia and Lymphedema

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein tyrosine phosphatase, non-receptor type 14

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Choanal atresia and lymphedema

OMIM
CTD
ClinVar

PMID:20826270 PMID:25741868

NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088

chronic rhinitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

endothelin 1

protein:increased expression:inferior turbinate, nasal gland, inflammatory cell (human)

RGD

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

Chronic Rhinosinusitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD8 subunit alpha

ameliorates

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

RGD

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

G

interleukin 17A

protein:increased expression:uncinate process, nasal mucosa (human)

RGD

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

G

interleukin 1 receptor antagonist

susceptibility

DNA:repeats:intron:IVS2+914_1000dup I/II alleles (human)

RGD

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

G

mannose binding lectin 2

protein:decreased activity:serum:

RGD

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

G

proteoglycan 2, pro eosinophil major basic protein

disease_progression

associated with Nasal Polyps;

RGD

NCBI chr 3:70,062,535...70,066,102
Ensembl chr 3:70,062,535...70,066,101

common cold

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arachidonate 5-lipoxygenase

protein:increased expression:bronchus

RGD

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

G

arachidonate 5-lipoxygenase activating protein

protein:increased expression:bronchus

RGD

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

G

C-X3-C motif chemokine ligand 1

RGD

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

G

C-X-C motif chemokine ligand 1

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

RGD

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

G

C-X-C motif chemokine ligand 10

protein:increased expression:respiratory system fluid/secretion

RGD

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

G

C-X-C motif chemokine ligand 3

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

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

G

C-X-C motif chemokine ligand 6

associated with Asthma

RGD

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

G

C-X-C motif chemokine receptor 2

RGD

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

G

defensin beta 4

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

RGD

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

G

defensin beta 5

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

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

G

interferon alpha 2

treatment

RGD

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

G

interleukin 10

RGD

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

G

interleukin 1 alpha

protein:increased expression:nasal mucus

RGD

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

G

interleukin 1 beta

protein:increased expression:nasal mucus

RGD

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

G

interleukin 1 receptor antagonist

protein:increased expression:nasal mucus

RGD

PMID:18279051 PMID:10358201

RGD:4143207, RGD:4143183

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

G

interleukin 33

protein:increased expression:nasal mucus

RGD

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

G

interleukin 4

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

RGD

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

G

peroxiredoxin 5

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

RGD

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

G

thymic stromal lymphopoietin

protein:increased expression:nasal mucus (human)

RGD

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

Epistaxis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor like type 1

ClinVar Annotator: match by term: Epistaxis

PMID:11484689 PMID:15687131 PMID:16540754 PMID:17786384 PMID:18159113 More...

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

G

endoglin

ClinVar Annotator: match by term: Spontaneous, recurrent epistaxis

PMID:15879500 PMID:16542389 PMID:28492532 PMID:30251589 PMID:10562296

NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230

G

glutathione S-transferase theta 1

susceptibility

DNA:deletion:cds (human)

RGD

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

esophageal atresia/tracheoesophageal fistula

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA2, DNA repair associated

ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula

PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:11179017 More...

NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567

G

BRCA1 interacting helicase 1

ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula

PMID:2455662 PMID:3375802 PMID:16116421 PMID:16116423 PMID:16116424 More...

NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324

G

GLI family zinc finger 2

RGD

NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574

G

noggin

OMIM:189960

NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339

G

sodium channel and clathrin linker 1

ClinVar Annotator: match by term: Esophageal atresia with or without tracheoesophageal fistula

PMID:25741868 PMID:28492532

NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065

G

sonic hedgehog signaling molecule

RGD

NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170

ethmoid sinusitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 7

protein:increased expression:ethmoid sinus

RGD

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

Feingold syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MYCN proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum | ClinVar Annotator: match by term: MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE | ClinVar Annotator: match by term: MMT syndrome | ClinVar Annotator: match by term: Microcephaly-oculo-digito-esophageal-duodenal syndrome

PMID:15821734 PMID:16906565 PMID:18470948 PMID:18671284 PMID:19852433 More...

NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590

Feingold Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: MYCN-related condition

PMID:25741868 PMID:28492532 PMID:30573562 PMID:37710961

NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590

glottis squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WD repeat containing, antisense to TP53

disease_progression

RGD

NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929

Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

laminin subunit alpha 3

ClinVar Annotator: match by term: Laryngo-onycho-cutaneous syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:7633458 PMID:8530087 PMID:8618022 PMID:8824879 PMID:8983017 More...

NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353

laryngeal carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

atypical chemokine receptor 3

disease_progression

protein:increased expression:larynx (human)

RGD

NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237

G

C-X-C motif chemokine receptor 4

disease_progression

protein:increased expression:larynx (human)

RGD

NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883

G

lysine methyltransferase 2C

mRNA:decreased expression:larynx

RGD

NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539

G

suppressor of cytokine signaling 1

severity

RGD

NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383

G

TNF receptor associated factor 6

disease_progression

RGD

NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507

G

ubiquitin protein ligase E3 component n-recognin 5

exacerbates

mRNA, protein:increased expression:larynx (human)

RGD

NCBI chr 7:69,115,216...69,224,843
Ensembl chr 7:69,116,761...69,224,903

G

X-ray repair cross complementing 1

susceptibility

DNA:missense mutation:cds: p.R280H (human)
DNA:SNPs, haplotype:: (rs3213403, rs1799778, rs3213282) (human)

RGD

PMID:27808358 PMID:24956286

RGD:151236313, RGD:151236314

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

Laryngeal Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr 2:226,748,724...226,763,183
Ensembl chr 2:226,741,788...226,763,182

G

epidermal growth factor receptor

severity

protein:increased expression:tumor (human)

RGD

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

G

ERCC excision repair 1, endonuclease non-catalytic subunit

susceptibility

DNA:snp:exon:c.354T>C (human) (rs11615)

RGD

NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963

G

glutathione S-transferase pi 1

protein:increased expression:larynx

RGD

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

microRNA 10a

sexual_dimorphism

miRNA:decreased expression:larynx epithelium (human)

RGD

NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280

G

microRNA 34c

sexual_dimorphism

miRNA:increased expression:larynx epithelium (human)

RGD

NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802

G

matrix metallopeptidase 9

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

N-acetyltransferase 1

susceptibility

DNA:polymorphism: :

RGD

NCBI chr16:22,218,217...22,238,516
Ensembl chr16:22,208,194...22,238,520

G

prostaglandin-endoperoxide synthase 2

severity

protein:increased expression:larynx

RGD

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

G

secreted phosphoprotein 1

RGD

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

Laryngeal Papillomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

prostaglandin-endoperoxide synthase 2

RGD

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

G

serine (or cysteine) peptidase inhibitor, clade A, member 3N

protein:decreased expression:serum

RGD

NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433

G

transporter 1, ATP binding cassette subfamily B member

RGD

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

laryngeal squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase

protein:decreased activity:larynx

RGD

NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088

G

catalase

protein:increased activity:larynx

RGD

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

cell division cycle 73

disease_progression

protein:decreased expression:larynx (human)

RGD

NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656

G

cyclin-dependent kinase inhibitor 1A

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

chromodomain helicase DNA binding protein 4

exacerbates

mRNA:increased expression:larynx (human)

NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541

G

epidermal growth factor receptor

disease_progression

RGD

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

G

erb-b2 receptor tyrosine kinase 2

disease_progression

RGD

NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078

G

erb-b2 receptor tyrosine kinase 3

disease_progression

RGD

NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525

G

erb-b2 receptor tyrosine kinase 4

disease_progression

RGD

NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595

G

forkhead box L2

exacerbates

mRNA:increased expression:larynx (human)

RGD

NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427

G

glutathione peroxidase 1

disease_progression
no_association

protein:increased expression:larynx (human)
DNA:missense mutation:CDS:p.P198L (human)
DNA:missense mutation:CDS:p.P198L (rs1050450) (human)

RGD

PMID:28641905 PMID:24074040 PMID:27188866

RGD:152995454, RGD:152995493, RGD:152995455

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

mitogen activated protein kinase kinase 4

severity

associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human)

RGD

NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993

G

microRNA 10a

severity

miRNA:decreased expression:blood serum (human)

NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280

G

microRNA 136

RNA:decreased expression:larynx (human)

RGD

NCBI chr 6:128,549,096...128,549,177
Ensembl chr 6:128,549,096...128,549,177

G

microRNA 21

exacerbates

miRNA:increased expression:blood serum (human)

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

G

microRNA 31

disease_progression

RNA:decreased expression:mucosa of larynx (human)

RGD

NCBI chr 5:103,599,038...103,599,143

G

mutL homolog 1

disease_progression

mRNA:decreased expression:larynx

RGD

NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617

G

matrix metallopeptidase 2

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

mutS homolog 2

disease_progression

mRNA:decreased expression:larynx

RGD

NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938

G

N-acetyltransferase 2

susceptibility

DNA:polymorphisms: :

RGD

PMID:19922706 PMID:16155914

RGD:5131602, RGD:5131856

NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520

G

phospholipase C, gamma 1

ameliorates

mRNA:increased expression:larynx (human)

RGD

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

G

RELA proto-oncogene, NF-kB subunit

severity

associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human)

RGD

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

G

xanthine dehydrogenase

protein:increased activity:larynx

RGD

NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268

G

X-ray repair cross complementing 1

ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma

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

laryngomalacia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nuclear factor I X

ClinVar Annotator: match by term: Congenital laryngomalacia

NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265

larynx cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-X-C motif chemokine ligand 12

exacerbates

protein:increased expression: mucosa of larynx (human)

RGD

NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168

G

C-X-C motif chemokine receptor 4

exacerbates

protein:increased expression: mucosa of larynx (human)

RGD

NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883

G

ERCC excision repair 5, endonuclease

susceptibility

DNA:missense mutation:CDS:p.D1104H (human)

RGD

NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472

G

ERCC excision repair 6, chromatin remodeling factor

susceptibility

DNA:missense mutation:CDS:p.R1230P (human)

RGD

NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587

G

glutathione peroxidase 1

susceptibility

DNA:missense mutation:CDS: (rs1050450) (human)

RGD

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

glutathione S-transferase mu 1

DNA:deletion: :

RGD

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

G

glutathione S-transferase mu 3

RGD

NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475

G

glutathione S-transferase, mu 5

NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553

G

mitogen activated protein kinase kinase 7

ameliorates

mRNA:increased expression:larynx (human)

RGD

NCBI chr12:2,591,312...2,600,534
Ensembl chr12:2,591,219...2,604,222

G

nucleotide-binding oligomerization domain containing 2

onset

DNA:insertion:Cds: 3020_3021insC (human)

RGD

NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177

G

vascular endothelial growth factor A

treatment

RGD

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

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

RGD

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

G

CD163 molecule

exacerbates

protein:increased expression:blood serum (human)

RGD

PMID:22851198 PMID:28355218

RGD:39939078, RGD:127345133

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

G

complement factor B

severity

RGD

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

G

interleukin 27

ameliorates

mRNA:decreased expression:skin of body (human)

RGD

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

G

mannose binding lectin 2

susceptibility

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

RGD

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

G

RT1 class II, locus Ba

susceptibility

DNA:polymorphisms: :HLA-DQA1*03, HLA-DQA1*05 (human)

RGD

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

G

vitamin D receptor

GAD

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

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 chr13:102,689,657...102,701,241
Ensembl chr13:102,689,657...102,701,139

G

coiled-coil domain containing 122

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

NCBI chr15:52,407,717...52,470,163
Ensembl chr15:52,407,717...52,470,163

G

coiled-coil domain containing 88B

CTD Direct Evidence: marker/mechanism

NCBI chr 1:204,036,913...204,052,878
Ensembl chr 1:204,036,918...204,052,970

G

CD8 subunit alpha

exacerbates

mRNA:increased expression:blood (human)

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

G

interleukin 10

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

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

G

interleukin 17A

severity

mRNA:decreased expression:epidermis (human)

RGD

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

G

interleukin 19

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

NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473

G

interleukin 23 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021

G

laccase domain containing 1

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

NCBI chr15:52,390,267...52,407,630
Ensembl chr15:52,395,183...52,407,545

G

leucine-rich repeat kinase 2

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

PMID:26467025 PMID:28492532

NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703

G

lymphotoxin alpha

susceptibility

ClinVar Annotator: match by term: Leprosy, early-onset, susceptibility to
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
CTD

PMID:15052269 PMID:17353895

NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859

G

mannose receptor, C type 1

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

NCBI chr17:77,249,187...77,330,857
Ensembl chr17:77,249,187...77,330,857

G

nucleotide-binding oligomerization domain containing 2

DNA:polymorphisms: :multiple (human)
ClinVar Annotator: match by term: Leprosy, susceptibility to, 1

NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177

G

presenilin associated, rhomboid-like

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

NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506

G

PTEN induced kinase 1

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

NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635

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 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555

G

RAB32, member RAS oncogene family

CTD Direct Evidence: marker/mechanism

NCBI chr 1:4,946,193...4,961,003
Ensembl chr 1:4,945,036...4,960,934

G

receptor-interacting serine-threonine kinase 2

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

NCBI chr 5:29,630,806...29,662,804
Ensembl chr 5:29,631,570...29,662,657

G

RT1 class II, locus Db1

susceptibility

DNA:polymorphisms (human)

RGD

PMID:20003324 PMID:19698125

RGD:5147585, RGD:5147788

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

G

solute carrier family 11 member 1

susceptibility

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

CTD
RGD

PMID:16597321 PMID:15755200 PMID:10608779

RGD:5684957, RGD:5684972

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

G

toll-like receptor 1

susceptibility

DNA:snp:cds:p.I602S (human)
ClinVar Annotator: match by term: LPRS1 | ClinVar Annotator: match by term: Leprosy, susceptibility to, 5
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
CTD
RGD

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

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

G

toll-like receptor 2

susceptibility

DNA:polymorphisms:microsatellite,597C>T(human)
ClinVar Annotator: match by term: Leprosy, susceptibility to, 3
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

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

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

G

toll-like receptor 6

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

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

G

tumor necrosis factor

susceptibility

DNA:SNP:promoter:−308G>A (human)

RGD

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

G

TNF superfamily member 15

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

NCBI chr 5:77,134,885...77,156,171
Ensembl chr 5:77,139,878...77,156,228

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

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

lipoid proteinosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

extracellular matrix protein 1

ClinVar Annotator: match by term: Lipid proteinosis
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:11929856 PMID:12472532 PMID:12603844 PMID:15327549 PMID:16172042 More...

NCBI chr 2:183,287,491...183,292,729
Ensembl chr 2:183,287,322...183,292,671

Martinez-Frias Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

regulatory factor X, 6

ClinVar Annotator: match by term: DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA OR HYPOPLASIA

PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 More...

NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147

maxillary sinus squamous cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin-dependent kinase inhibitor 1A

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

mucocutaneous leishmaniasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon gamma

CTD Direct Evidence: therapeutic

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

G

lymphotoxin alpha

DNA:polymorphism:intron

RGD

NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859

G

tumor necrosis factor

DNA:SNP:promoter:-308G>A (human)

RGD

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

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:

RGD

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

G

RT1 class II, locus Db1

DNA:polymorphism (human)

RGD

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

G

solute carrier family 11 member 1

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

RGD

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

nasal cavity adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

clusterin

RGD

NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315

nasal cavity cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SRY-box transcription factor 2

DNA:amplification

RGD

NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338

G

tumor protein p53

RGD

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

Nasal Obstruction

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

neuropeptide Y

CTD Direct Evidence: therapeutic

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

Nasal Polyps

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1A

associated with Chronic Rhinosinusitis;protein:increased expression:nasal sinus (human)

RGD

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

G

adrenoceptor beta 2

susceptibility

DNA:polymorphism:p.R16G(human)

RGD

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

G

arachidonate 12-lipoxygenase, 12S type

mRNA:decreased expression:nasal cavity epithelium

RGD

NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542

G

arachidonate 15-lipoxygenase

mRNA:increased expression:nasal cavity epithelium
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:30643255 PMID:20554417

NCBI chr10:55,060,169...55,068,885
Ensembl chr10:55,060,412...55,068,874

G

angiogenin

RGD

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

G

annexin A1

RGD

NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343

G

brain-derived neurotrophic factor

associated with Sinusitis;protein:decreased expression:respiratory system mucosa

RGD

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

G

catalase

protein:increased activity:nasal concha:

RGD

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

C-C motif chemokine ligand 1

associated with Sinusitis

RGD

NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159

G

C-C motif chemokine ligand 11

mRNA:increased expression:nasal cavity epithelium

RGD

NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926

G

C-C motif chemokine ligand 2

protein:increased expression:sinus:

RGD

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

G

C-C motif chemokine ligand 20

associated with Allergic Rhinitis
associated with Rhinosinusitis

RGD

PMID:19027509 PMID:22287435

RGD:7483586, RGD:7483612

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

G

C-C motif chemokine ligand 24

mRNA:increased expression:nasal cavity epithelium

RGD

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

G

C-C motif chemokine ligand 26

associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium

RGD

NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335

G

C-C motif chemokine receptor 2

RGD

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

G

C-C motif chemokine receptor 6

associated with Rhinosinusitis

RGD

NCBI chr 1:52,474,477...52,508,301
Ensembl chr 1:52,474,168...52,498,603

G

chitinase, acidic

associated with Sinusitis; mRNA:increased expression:mucosa of ethmoidal sinus (human)

RGD

NCBI chr 2:193,614,374...193,656,532
Ensembl chr 2:193,614,114...193,656,533

G

C-X-C motif chemokine ligand 1

associated with Sinusitis;mRNA:increased expression:respiratory system mucosa

RGD

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

G

C-X-C motif chemokine ligand 3

associated with Sinusitis;mRNA:increased expression:respiratory system mucosa

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

G

cysteinyl leukotriene receptor 1

protein:increased expression:nasal cavity epithelium
associated with Asthma
associated with Rhinitis;mRNA:increased expression:nasal cavity epithelium

RGD

PMID:16739673 PMID:11591188 PMID:16689996

RGD:4889117, RGD:4848936, RGD:4783198

NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121

G

early growth response 1

mRNA:increased expression:nasal polyp (human)

RGD

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

Fas cell surface death receptor

protein:decreased expression:nasal polyp (human)

RGD

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

G

fibroblast growth factor 1

RGD

NCBI chr18:30,686,555...30,772,667
Ensembl chr18:30,686,581...30,772,357

G

fibroblast growth factor 2

RGD

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

G

glutathione S-transferase mu 1

associated with GSTT1 null genotype:DNA:deletion: :

RGD

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

G

glutathione S-transferase theta 1

DNA:deletion: :

RGD

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

G

hepatocyte growth factor

mRNA,protein:increased expression:nasal cavity mucosa:

RGD

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

intercellular adhesion molecule 1

protein:increased expression:nasal cavity epithelium

RGD

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

G

interferon gamma

protein:increased expression:nasal mucosa, tissue:

RGD

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

G

insulin-like growth factor 1

mRNA:increased expression:nasal cavity mucosa:

RGD

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

G

interleukin 10

RGD

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

G

interleukin 13

associated with Rhinosinusitis;protein:increased expression:serum

RGD

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

G

interleukin 16

associated with Sinusitis

RGD

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

G

interleukin 17A

protein:increased expression:nose, serum
associated with rhinitis; protein:increased expression:nasal mucosa

RGD

PMID:20506642 PMID:21091665

RGD:4889137, RGD:4889132

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

G

interleukin 1 alpha

susceptibility

associated with asthma;DNA:polymorphism:exon:
DNA:SNPs:exon:

RGD

PMID:12752325 PMID:17638785

RGD:4142804, RGD:4142855

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

G

interleukin 5 receptor subunit alpha

protein:increased expression:nasal mucus, serum

RGD

NCBI chr 4:139,630,652...139,664,593
Ensembl chr 4:139,632,066...139,668,544

G

interleukin 9

associated with Bronchial Hyperreactivity

RGD

NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895

G

integrin subunit alpha L

protein:increased expression:nasal cavity epithelium

RGD

NCBI chr 1:181,918,183...181,955,735
Ensembl chr 1:181,918,183...181,955,732

G

Jun proto-oncogene, AP-1 transcription factor subunit

mRNA:decreased expression:nasal cavity epithelium

RGD

NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656

G

kinase insert domain receptor

protein:increased expression:inferior nasal concha:

RGD

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

KIT ligand

CTD Direct Evidence: marker/mechanism

NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214

G

leptin receptor

mRNA:increased expression:nose

RGD

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

G

mannose binding lectin 2

associated with Sinusitis; protein:increased secretion:serum (human)

RGD

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

G

MET proto-oncogene, receptor tyrosine kinase

mRNA,protein:increased expression:nasal cavity mucosa:

RGD

NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876

G

matrix metallopeptidase 1

associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa

RGD

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

G

matrix metallopeptidase 2

treatment

associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa

RGD

PMID:23064462 PMID:21305560

RGD:8549735, RGD:8656001

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

susceptibility
disease_progression

associated with Asthma, Aspirin-Induced; DNA:polymorphism:promoter: -1562C>T (human)
associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa

RGD

PMID:19958602 PMID:23987197 PMID:23064462

RGD:5130861, RGD:8657056, RGD:8549735

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

mucin 5AC, oligomeric mucus/gel-forming

RGD

NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475

G

nitric oxide synthase 2

mRNA:increased expression:nasal mucosa
DNA:repeats:promoter

RGD

PMID:20554417 PMID:18714530

RGD:5509597, RGD:4891508

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

nitric oxide synthase 3

protein:increased expression:nasal mucosa (human)

RGD

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

plasminogen activator, urokinase receptor

associated with Sinusitis

RGD

NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595

G

paraoxonase 1

protein:decreased activity:serum (human)

RGD

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

protein phosphatase 1, regulatory subunit 9B

associated with Chronic Rhinosinusitis;mRNA:increased expression:mucosa of paranasal sinus (human)

RGD

NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083

G

prostaglandin-endoperoxide synthase 1

associated with Cystic Fibrosis; protein:increased expression:nasal mucosa:

RGD

NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586

G

prostaglandin-endoperoxide synthase 2

associated with Cystic Fibrosis; protein:increased expression:nasal mucosa:

RGD

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

G

RT1 class II, locus Ba

susceptibility

associated with intrinsic asthma;DNA:polymorphism:cds:HLA-DQA1*0201 (human)
DNA:polymorphism,haplotype: :HLA-DQA1*0201

RGD

PMID:10718431 PMID:16890076

RGD:5147813, RGD:8547658

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

G

RT1 class II, locus Bb

susceptibility

associated with intrinsic asthma;DNA:polymorphism, haplotype:cds:HLA-DQB1*0202 (human)
DNA:haplotype: : HLA-DQB1*0201;

RGD

PMID:10718431 PMID:16890076

RGD:5147813, RGD:8547658

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

G

RT1 class I, locus CE13

susceptibility

DNA:polymorphisms:cds:HLA-B*07, HLA-B*57 (human, Turkish)

RGD

NCBI chr20:3,314,830...3,318,106

G

RT1 class II, locus Db1

associated with intrinsic asthma;DNA:polymorphisms:cds:HLA-DR7 (human)

RGD

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

G

superoxide dismutase 1

mRNA, protein:increased expression:middle nasal turbinate, lamella (human)
associated with Rhinosinusitis;protein:decreased expression:nasal mucosa:

RGD

PMID:16540901 PMID:23921602

RGD:1581230, RGD:8547534

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

superoxide dismutase 2

associated with Rhinosinusitis;mRNA,protein:decreased expression:nasal mucosa:

RGD

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

superoxide dismutase 3

mRNA, protein:increased expression:middle nasal turbinate, lamella (human)

RGD

NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990

G

signal transducer and activator of transcription 3

RGD

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

G

transforming growth factor, beta 1

associated with Rhinitis
mRNA:decreased expression:nasal cavity epithelium

RGD

PMID:18423831 PMID:23406597 PMID:12761968

RGD:4145277, RGD:7394852, RGD:7394830

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

G

toll-like receptor 2

associated with Cystic Fibrosis;mRNA:increased expression:inferior nasal concha:

RGD

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

G

toll-like receptor 4

associated with Rhinosinusitis;mRNA,protein:increased expression:

RGD

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

G

toll-like receptor 7

associated with Rhinosinusitis;mRNA,protein:increased expression:

RGD

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

G

tenascin C

protein:increased expression:nasal cavity epithelium

RGD

NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624

G

tumor necrosis factor

DNA:SNPs:promoter:

RGD

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

G

TNF receptor superfamily member 1A

mRNA:decreased expression:nasal polyp (human)

RGD

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

G

TNF receptor superfamily member 1B

mRNA:decreased expression:nasal polyp (human)

RGD

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

G

vascular endothelial growth factor A

protein:increased expression:Turbinates:

RGD

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

nasal type extranodal NK/T-cell lymphoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily B member 1A

severity

Nasal Type;protein:increased expression:nasal cavity (human)

RGD

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

G

CD274 molecule

disease_progression

associated with Epstein-Barr Virus Infections

RGD

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

G

CASP8 and FADD-like apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034

G

Fas cell surface death receptor

DNA:insertion, deletions:cds:multiple (human)

RGD

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

G

glutathione peroxidase 3

treatment

associated with ethmoid sinus cancer and Neoplasm Metastasis

RGD

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

G

Janus kinase 3

CTD Direct Evidence: marker/mechanism

PMID:22705984 PMID:23689514

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

G

PR/SET domain 1

disease_progression

RGD

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

G

signal transducer and activator of transcription 3

protein:increased expression:nasal cavity (human)

RGD

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

G

signal transducer and activator of transcription 5B

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668

Nasopharyngeal Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin D1

onset

DNA:polymorphism: :870A>G

RGD

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

G

CTP synthase 1

mRNA:increased expression:nasopharynx (human)

RGD

NCBI chr 5:134,125,022...134,154,155
Ensembl chr 5:134,125,025...134,154,180

G

endothelin receptor type A

CTD Direct Evidence: marker/mechanism

NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

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

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Nasopharyngeal Neoplasms | ClinVar Annotator: match by term: Nasopharyngeal neoplasm

PMID:17525745 PMID:18552176 PMID:22238366 PMID:23002168 PMID:23908597 More...

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Nasopharyngeal Neoplasms

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Nasopharyngeal Neoplasms

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172

G

MDS1 and EVI1 complex locus

CTD Direct Evidence: marker/mechanism

NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

NRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Nasopharyngeal Neoplasms

PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More...

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

G

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

ClinVar Annotator: match by term: Nasopharyngeal Neoplasms

PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More...

NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032

G

Ras association domain family member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:119,244,288...119,280,462
Ensembl chr 3:119,245,821...119,280,431

G

TNF receptor superfamily member 19

CTD Direct Evidence: marker/mechanism

NCBI chr15:35,092,206...35,158,472
Ensembl chr15:35,092,206...35,180,795

G

tumor protein p53

ClinVar Annotator: match by term: Nasopharyngeal Neoplasms

PMID:1631151 PMID:6736287 PMID:7707106 PMID:7885831 PMID:8023157 More...

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

G

Wnt inhibitory factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:56,548,060...56,618,364
Ensembl chr 7:56,548,053...56,618,360

nasopharyngitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

patched 1

mRNA:decreased expression:epithelium of nasopharynx

RGD

NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333

nasopharynx carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-rich interaction domain 1A

disease_progression

protein:decreased expression:nasopharynx(human)

RGD

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

G

ATM serine/threonine kinase

treatment

protein:decreased expression:epithelium of nasopharynx (human)
associated with Epstein-Barr Virus Infections;mRNA:decreased expression:nasopharyngeal tissue (human)

RGD

PMID:29230817 PMID:28820634 PMID:19142888

RGD:126779560, RGD:150340692, RGD:126790562

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

G

ATR serine/threonine kinase

treatment

RGD

NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136

G

BCL2, apoptosis regulator

disease_progression

protein:increased expression:epithelium of nasopharynx (human)

RGD

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

G

BRCA1, DNA repair associated

DNA:nonsense mutation: :p.Q563* (human)

RGD

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

G

Bruton tyrosine kinase

mRNA:decreased expression:nasopharynx (human)

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

G

calreticulin

exacerbates
disease_progression

protein:increased expression:epithelium of nasopharynx (human)

RGD

PMID:31632490 PMID:31956372

RGD:150520157, RGD:150521689

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

G

cyclin D2

disease_progression

RGD

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

G

CD163 molecule

exacerbates

protein:increased expression:nasopharynx, macrophage (human)

RGD

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

G

cholinergic receptor nicotinic alpha 5 subunit

susceptibility

DNA:SNP: :rs3841324(human)

RGD

NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146

G

CLPTM1-like

susceptibility

DNA:SNP: :rs401681(human)
protein:increased expression:nasopharynx
DNA:SNP:intron:rs31489(human)

RGD

PMID:26621837 PMID:26621837 PMID:26545403 PMID:31270100

RGD:11564613, RGD:11564613, RGD:11556976, RGD:150537099

NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530

G

complement C3d receptor 2

susceptibility

DNA:SNP:5'UTR:24T>C (rs3813946)(human)

RGD

NCBI chr13:106,678,579...106,716,595
Ensembl chr13:106,685,413...106,716,235

G

colony stimulating factor 1 receptor

treatment

RGD

NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415

G

C-X-C motif chemokine receptor 4

disease_progression
exacerbates

mRNA:increased expression:nasopharynx (human)
protein:increased expression:nasopharynx (human)

RGD

PMID:26611644 PMID:15978137

RGD:152023644, RGD:152177484

NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883

G

cytochrome P450, family 2, subfamily e, polypeptide 1

DNA:SNP: :rs2031920 (human)

RGD

NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023

G

DAB2 interacting protein

disease_progression

mRNA,protein:decreased expression:epithelium of nasopharynx (human)

RGD

NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280

G

discoidin domain receptor tyrosine kinase 2

mRNA:increased expression:epithelium of nasopharynx

RGD

NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363

G

ephrin B2

disease_progression

protein:increased expression:nasopharynx (human)

RGD

NCBI chr16:80,783,389...80,827,420
Ensembl chr16:80,783,417...80,824,391

G

erb-b2 receptor tyrosine kinase 3

disease_progression

RGD

NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

disease_progression

mRNA, protein:increased expression:ventral nasal meatus

RGD

NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362

G

fibroblast growth factor receptor 4

severity

protein:increased expression:nasopharynx (human)

RGD

NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242

G

Fms related receptor tyrosine kinase 1

disease_progression

RGD

NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626

G

FOS like 2, AP-1 transcription factor subunit

mRNA:increased expression:nasopharynx (human)

RGD

NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034

G

far upstream element binding protein 1

exacerbates

protein:increased expression:nasopharynx (human)

RGD

NCBI chr 2:241,159,481...241,186,591
Ensembl chr 2:241,159,512...241,186,602

G

glutathione peroxidase 1

susceptibility

DNA:missense mutation:CDS:p.P198L (human)

RGD

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

glutamate ionotropic receptor NMDA type subunit 2A

protein:decreased expression:nasopharynx (human)

RGD

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

G

glutathione S-transferase mu 1

no_association

DNA:SNP: :1270533T>G (human)

RGD

PMID:24711137 PMID:19448408

RGD:14700933, RGD:14700955

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

G

Janus kinase 2

severity

protein:increased expression:mucosa of nasopharynx (human)

RGD

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

lysine demethylase 3A

severity

protein:decreased expression:nasopharyngeal epithelium (human)

RGD

NCBI chr 4:103,630,907...103,675,073
Ensembl chr 4:103,630,908...103,675,073

G

kinase insert domain receptor

disease_progression

RGD

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

lysine methyltransferase 2C

RGD

NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539

G

mitogen activated protein kinase kinase 4

ameliorates

DNA:SNP:promoter: -1304T>G, -1304G>G (human)
associated with Epstein-Barr Virus Infections; DNA:SNPs:promoter: -1304G>G, -1304T>G (human)

RGD

PMID:27373035 PMID:21702039

RGD:150429759, RGD:150429763

NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993

G

mitogen activated protein kinase 14

treatment

human cell line in a mouse model

RGD

NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589

G

microRNA 132

treatment

RGD

NCBI chr10:60,023,696...60,023,796
Ensembl chr10:60,023,696...60,023,796

G

microRNA 152

miRNA:decreased expression:nasopharynx

RGD

NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020

G

microRNA 154

disease_progression

RNA:decreased expression:epithelium of nasopharynx (human)

RGD

NCBI chr 6:128,752,947...128,753,030
Ensembl chr 6:128,752,947...128,753,030

G

microRNA 222

RNA:increased expression:nasopharynx

RGD

NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006

G

microRNA 31

disease_progression
ameliorates

RNA:decreased expression:peripheral blood mononuclear cell (human)
Human cells in mouse model

RGD

PMID:31129965 PMID:25098679

RGD:152998936, RGD:152998921

NCBI chr 5:103,599,038...103,599,143

G

microRNA 423

disease_progression

mRNA:decreased expression:nasopharynx (human)

RGD

NCBI chr10:61,914,142...61,914,220
Ensembl chr10:61,914,133...61,914,226

G

macrophage stimulating 1 receptor

susceptibility

ClinVar Annotator: match by term: Nasopharyngeal carcinoma, susceptibility to, 3

PMID:25741868 PMID:26951679 PMID:28492532

NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455

G

mucin 5B, oligomeric mucus/gel-forming

RGD

NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250

G

NPC intracellular cholesterol transporter 1

ClinVar Annotator: match by term: Nasopharyngeal carcinoma

PMID:10480349 PMID:11182931 PMID:11333381 PMID:11349231 PMID:12408188 More...

NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049

G

peptidylprolyl isomerase A

mRNA, protein:increased expression:blood serum, nasopharynx, extracellular exosome (human)

RGD

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

G

Rac family small GTPase 1

exacerbates

protein:increased expression:nasopharynx (human)

RGD

NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251

G

RAD52 homolog, DNA repair protein

severity

protein:increased expression:nasopharynx (human)

RGD

NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207

G

small nuclear ribonucleoprotein D1 polypeptide

mRNA:increased expression:nasopharynx (human)

RGD

NCBI chr18:1,696,838...1,707,400
Ensembl chr18:1,696,852...1,708,256

G

small nuclear ribonucleoprotein polypeptide E

mRNA:increased expression:nasopharynx (human)

RGD

NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
Ensembl chr 8:45,050,986...45,057,310

G

small nuclear ribonucleoprotein polypeptide F

mRNA:increased expression:nasopharynx (human)

RGD

NCBI chr 7:28,130,427...28,137,129
Ensembl chr 7:28,130,427...28,137,129

G

small nuclear ribonucleoprotein polypeptide G

mRNA:increased expression:nasopharynx (human)

RGD

NCBI chr 4:118,812,278...118,819,827
Ensembl chr 4:118,812,252...118,819,826

G

spen family transcriptional repressor

disease_progression

protein:increased expression:mucosa of nasopharynx (human)

RGD

NCBI chr 5:153,775,287...153,848,677
Ensembl chr 5:153,776,234...153,848,811

G

SRC proto-oncogene, non-receptor tyrosine kinase

disease_progression

RGD

NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476

G

signal transducer and activator of transcription 3

severity

protein:increased expression:mucosa of nasopharynx (human)

RGD

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

G

telomerase reverse transcriptase

protein:increased expression:nasopharynx

RGD

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

G

tet methylcytosine dioxygenase 2

severity

human cells in mouse model

RGD

NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534

G

TNF alpha induced protein 3

treatment

RGD

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

G

tumor protein p53

ClinVar Annotator: match by term: Nasopharyngeal carcinoma

OMIM
ClinVar
RGD

PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1631151 More...

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

G

vascular endothelial growth factor A

disease_progression
severity

protein:increased expression:mucosa of nasopharynx (human)
protein:increased expression:nasopharynx (human)

RGD

PMID:16480593 PMID:30123088 PMID:23631129

RGD:126925191, RGD:149735327, RGD:153305949

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

G

WD repeat containing, antisense to TP53

associated with Epstein-Barr Virus Infections; protein:increased expression:nasopharynx epithelium

RGD

NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929

G

X-ray repair cross complementing 1

treatment
sexual_dimorphism
susceptibility

DNA:SNP:3'utr: (rs25489) (human)
DNA:missense mutation:cds: p.R194W (human)
associated with Tobacco Use Disorder; DNA:missense mutation:cds: p.R399Q (human)
DNA:missense mutation:exon 10: p.R399Q G>A, (rs25487) (human)

RGD

PMID:29108254 PMID:16796765 PMID:27356695 PMID:24175791 PMID:17630853

RGD:150530619, RGD:150573694, RGD:150573697, RGD:150573698, RGD:150573708

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

Nose Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

deleted in malignant brain tumors 1

mRNA, Protein:increased expression

RGD

NCBI chr 1:185,617,469...185,696,476
Ensembl chr 1:185,617,294...185,696,478

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

paranasal sinus benign neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

annexin A1

RGD

NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343

G

annexin A2

disease_progression

RGD

NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658

G

tumor protein p53

treatment

DNA:mutations:cds:

RGD

PMID:22575263 PMID:23369851

RGD:8547763, RGD:8547764

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

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:

RGD

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

Perennial Allergic Rhinitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adiponectin, C1Q and collagen domain containing

protein:decreased expression:serum

RGD

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

G

albumin

CTD Direct Evidence: marker/mechanism

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

G

arachidonate 5-lipoxygenase activating protein

protein:increased expression:nasal turbinate

RGD

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

G

catalase

protein:decreased expression:plasma

RGD

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

C-C motif chemokine ligand 2

protein:increased expression:nasal turbinate, mucosa (human)

RGD

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

G

C-C motif chemokine receptor 2

mRNA:increased expression:Nasal Mucosa

RGD

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

G

C-C motif chemokine receptor 5

mRNA:increased expression:nasal mucosa (human)

RGD

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

G

CD40 molecule

RGD

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

G

CD86 molecule

protein:increased expression:nasal mucosa, dendritic cell (human)

RGD

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

G

chitinase, acidic

mRNA, protein:increased expression:turbinate, mucosa (human)

RGD

NCBI chr 2:193,614,374...193,656,532
Ensembl chr 2:193,614,114...193,656,533

G

early growth response 1

DNA:snp:5' utr:g.-4071A>G rs7729723 (human)

RGD

NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766

G

F2R like trypsin receptor 1

RGD

NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226

G

glutathione S-transferase pi 1

susceptibility

DNA:polymorphism:exon:p.I105V (rs1695) (human)

RGD

NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226

G

heme oxygenase 1

mRNA, protein:increased expression: nasal mucosa

RGD

NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079

G

intercellular adhesion molecule 1

protein:increased expression:lung, endothelium (mouse)
protein:increased secretion:nasopharynx (human)

RGD

PMID:19968652 PMID:19047814

RGD:4145464, RGD:4145520

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

G

interferon gamma receptor 1

DNA: SNP: Leu467Pro

RGD

NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785

G

interleukin 13

mRNA, protein:increased expression:nasal mucosa

RGD

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

G

interleukin 17A

severity

protein:increased expression:serum

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

G

interleukin 18

susceptibility

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

RGD

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

G

interleukin 1 alpha

DNA:polymorphism:exon:c.4845G>T (human)

RGD

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

G

interleukin 1 receptor type 1

RGD

NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937

G

interleukin 2

protein:decreased expression:serum:

RGD

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

G

interleukin 4

treatment

protein:increased expression:serum

RGD

PMID:21171297 PMID:9237816 PMID:15329007

RGD:5128559, RGD:7829817, RGD:7829804

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

G

interleukin 5

protein: increased levels: sputum

RGD

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

G

matrix metallopeptidase 2

protein:increased expression:nasal mucosa:

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 9

protein:increased expression:nasal mucosa:

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

nitric oxide synthase 2

protein:increased expression:nasal mucosa

RGD

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

nitric oxide synthase 3

DNA:snp:promoter:g.-786T>C (human)

RGD

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

nuclear receptor subfamily 3, group C, member 1

protein:altered expression:nasal mucosa

RGD

NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375

G

peroxisome proliferator-activated receptor gamma

mRNA, protein:increased expression:nasal mucosa (human)

RGD

NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468

G

prostaglandin-endoperoxide synthase 1

protein:increased expression:respiratory system epithelium

RGD

NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586

G

thromboxane A2 receptor

treatment

RGD

NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176

Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin heavy chain 14

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peripheral neuropathy, myopathy, hoarseness, and hearing loss

OMIM
CTD
ClinVar

PMID:21480433 PMID:23806086 PMID:24033266 PMID:24088041 PMID:25741868 More...

NCBI chr 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836

rhinitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAM metallopeptidase domain 33

susceptibility

DNA:SNPs: :multiple (human)

RGD

PMID:18778489 PMID:15298558

RGD:4145378, RGD:4145383

NCBI chr 3:118,262,395...118,283,456
Ensembl chr 3:118,271,029...118,283,461

G

angiogenin

protein:increased expression:sputum

RGD

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

G

bradykinin receptor B1

RGD

NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747

G

bradykinin receptor B2

RGD

PMID:1890650 PMID:11149999

RGD:4891044, RGD:4891033

NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497

G

brain-derived neurotrophic factor

susceptibility

mRNA:increased expression:nasal cavity epithelium
DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human)

RGD

PMID:20464992 PMID:21723144

RGD:4891116, RGD:8655967

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

G

complement C3

mRNA:increased expression:nasal cavity epithelium

RGD

PMID:20109314 PMID:17345707

RGD:5129539, RGD:5129524

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

G

complement C3a receptor 1

severity

protein:increased expression:nasal cavity

RGD

NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701

G

complement C5a receptor 1

RGD

NCBI chr 1:76,948,622...76,959,826

G

caspase 1

protein:increased expression:serum

RGD

PMID:12396474 PMID:20974310

RGD:5130192, RGD:5130187

NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383

G

catalase

treatment

protein:increased activity:blood,nasal cavity mucosa:

RGD

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

C-C motif chemokine ligand 1

mRNA:increased expression:nasal cavity epithelium

RGD

NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159

G

C-C motif chemokine ligand 11

severity

associated with Sinusitis;protein:increased expression:paranasal sinus
protein:increased expression:nasal mucus
mRNA:increased expression:lung, nose

RGD

PMID:17999785 PMID:16120080 PMID:16765544

RGD:4145455, RGD:4145411, RGD:4145462

NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926

G

C-C motif chemokine ligand 17

protein:increased expression:blood, mononuclear cell

RGD

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

G

C-C motif chemokine ligand 19

RGD

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

G

C-C motif chemokine ligand 22

protein:increased expression:blood, mononuclear cell

RGD

NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400

G

C-C motif chemokine ligand 24

mRNA:increased expression:nasal cavity epithelium
DNA:SNPs: :179T>C, 275C>T (human)

RGD

PMID:17982926 PMID:15580493

RGD:4145109, RGD:4891493

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

G

C-C motif chemokine ligand 26

DNA:polymorphism: :2497T>G (human)
associated with Eosinophilia;protein:increased expression:oronasal secretion (human)

RGD

PMID:15580493 PMID:24989688

RGD:4891493, RGD:11531119

NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335

G

C-C motif chemokine ligand 4

RGD

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

G

C-C motif chemokine ligand 7

RGD

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

G

C-C motif chemokine receptor 2

susceptibility

Rhinitis, Allergic, Seasonal; DNA:SNP:cds:p.V64I (human)

RGD

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

G

C-C motif chemokine receptor 3

DNA:SNP:exon:51T>C (human)
protein:increased expression:blood, T cell
mRNA:increased expression:nose

RGD

PMID:17135764 PMID:17156343 PMID:20696593

RGD:4145111, RGD:4145645, RGD:4145454

NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990

G

CD14 molecule

susceptibility
resistance

DNA:polymorphism:promoter:c. -159c>T (human)

RGD

PMID:20109306 PMID:16950285

RGD:4144795, RGD:4144810

NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261

G

Cd28 molecule

RGD

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

G

Cd80 molecule

RGD

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

G

cell division cycle 42

mRNA:increased expression:nasal turbinate

RGD

NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111

G

CF transmembrane conductance regulator

CTD Direct Evidence: marker/mechanism

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

G

corticotropin releasing hormone receptor 1

mRNA, protein:increased expression:nasal cavity epithelium

RGD

NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481

G

corticotropin releasing hormone receptor 2

mRNA, protein:increased expression:nasal cavity epithelium

RGD

NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904

G

cytotoxic T-lymphocyte-associated protein 4

protein:increased expression:T cell

RGD

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

G

C-X3-C motif chemokine ligand 1

protein:increased expression:plasma

RGD

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

G

C-X-C motif chemokine ligand 6

protein:increased expression:nasal mucus

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

G

cytochrome P450, family 2, subfamily d, polypeptide 4

DNA:SNP:3' utr:*1934G>A (human)

RGD

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

G

cysteinyl leukotriene receptor 1

associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium

RGD

PMID:17627772 PMID:16689996 PMID:15379985 PMID:18946234

RGD:4781451, RGD:4783198, RGD:4847512, RGD:4888516

NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121

G

cysteinyl leukotriene receptor 2

associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium

RGD

NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136

G

Fc epsilon receptor Ia

RGD

NCBI chr13:85,686,099...85,692,394
Ensembl chr13:85,686,092...85,692,351

G

fission, mitochondrial 1

mRNA, protein:increased expression:nasal cavity mucosa (rat)

RGD

NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377

G

histidine decarboxylase

DNA:SNP: :p.E644D (rs2073440) (human)

RGD

PMID:20608921 PMID:15054596

RGD:5128884, RGD:5143921

NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341

G

histamine N-methyltransferase

no_association

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17651147 PMID:17651147

NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012

G

histamine receptor H 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:147,564,963...147,649,353
Ensembl chr 4:147,645,995...147,647,455

G

interleukin 13

susceptibility
disease_progression

associated with asthma; DNA:polymorphisms:promoter:c. -1510A>C, -1055C>T (human)
mRNA:increased expression:nose
DNA:polymorphism: :rs1800925 (human)

RGD

PMID:16120094 PMID:20358028 PMID:20696593 PMID:17088137 PMID:20484924

RGD:4206706, RGD:4145767, RGD:4145454, RGD:4159171, RGD:4145534

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

G

interleukin 13 receptor subunit alpha 2

RGD

NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381

G

interleukin 15

RGD

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

G

interleukin 16

protein:increased expression:serum
protein:increased expression:nasal cavity epithelium, serum

RGD

PMID:18254318 PMID:19295235

RGD:5024932, RGD:5024931

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

G

interleukin 17A

protein:increased expression:nasal mucosa

RGD

PMID:20506642 PMID:19927541

RGD:4889137, RGD:4889144

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

G

interleukin 18

disease_progression

protein:increased expression:nasal lavage fluid, bronchoalveolar lavage fluid
rhinitis allergic, seasonal; protein:increased expression:plasma
protein:increased expression:serum

RGD

PMID:17305282 PMID:15934281 PMID:17323858

RGD:4889917, RGD:4889927, RGD:4889916

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

G

interleukin 1 beta

susceptibility

mRNA:increased expression:nasal cavity epithelium
associated with Hypersensitivity;DNA:polymorphism: :-511C>T (human)
associated with Hypersensitivity;protein:increased expression:nasal mucus

RGD

PMID:20490816 PMID:14533660 PMID:10224452

RGD:4142821, RGD:4142859, RGD:4143227

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

G

interleukin 1 receptor-like 1

severity

associated with Sinusitis;DNA:SNPs: :multiple (human)

RGD

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

G

interleukin 1 receptor antagonist

susceptibility

associated with Hypersensitivity;DNA:repeat:intron (human)

RGD

PMID:14533660 PMID:15178892 PMID:10224452

RGD:4142859, RGD:4143215, RGD:4143227

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

G

interleukin 2

susceptibility

DNA:SNP:promoter:rs2069762(human)

RGD

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

G

interleukin 21

RGD

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

G

interleukin 22

severity

mRNA:increased expression:blood, mononuclear cell

RGD

NCBI chr 7:53,801,206...53,805,673
Ensembl chr 7:53,801,206...53,806,186

G

interleukin 23 receptor

susceptibility

DNA:SNP,haplotype: :rs7517847(human)

RGD

NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021

G

interleukin 27 receptor subunit alpha

RGD

NCBI chr19:24,109,963...24,121,977
Ensembl chr19:24,109,972...24,121,938

G

interleukin 4

mRNA:increased expression:nasal cavity epithelium
CTD Direct Evidence: marker/mechanism
protein:increased expression:serum

CTD
RGD

PMID:19672097 PMID:21208219 PMID:18826099

RGD:5128558, RGD:2317285

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

G

interleukin 4 receptor

DNA:polymorphism: :c.1432T>C (human)

RGD

NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980

G

interleukin 5

RGD

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

G

interleukin 9

RGD

NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895

G

leptin

RGD

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

G

mannose binding lectin 2

susceptibility

DNA:polymorphism: :

RGD

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

G

mitofusin 1

mRNA, protein:increased expression:nasal cavity mucosa (rat)

RGD

NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640

G

macrophage migration inhibitory factor

severity

protein:increased expression:serum, nasal mucosa

RGD

PMID:15053202 PMID:15922619

RGD:4891045, RGD:4891056

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

G

membrane spanning 4-domains A2

RGD

NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310

G

mucin 5AC, oligomeric mucus/gel-forming

mRNA:increased expression:nose

RGD

PMID:20696593 PMID:15715404

RGD:4145454, RGD:7364740

NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475

G

nerve growth factor

protein:increased expression:respiratory system fluid/secretion
associated with Sinusitis;protein:increased expression:respiratory system mucosa

RGD

PMID:10224365 PMID:19958603

RGD:4891115, RGD:4891064

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

G

nerve growth factor receptor

protein:increased expression:blood, eosinophil

RGD

NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518

G

nucleotide-binding oligomerization domain containing 1

mRNA:decreased expression:nose

RGD

NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404

G

nucleotide-binding oligomerization domain containing 2

susceptibility

DNA:polymorphisms:cds:2104C>T,2722G>C (human)

RGD

NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177

G

nitric oxide synthase 2

protein:increased expression:nasal mucosa

RGD

NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210

G

neuropeptide Y

CTD Direct Evidence: marker/mechanism

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

G

neurotrophic receptor tyrosine kinase 1

protein:increased expression:eosinophil

RGD

NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770

G

OPA1, mitochondrial dynamin like GTPase

mRNA, protein:increased expression:nasal cavity mucosa (rat)

RGD

NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109

G

plasminogen activator, urokinase

mRNA:increased expression:nasal cavity epithelium

RGD

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

G

prostaglandin D2 receptor 2

RGD

PMID:19230460 PMID:19608418

RGD:5135021, RGD:5135017

NCBI chr 1:207,585,088...207,590,275
Ensembl chr 1:207,587,917...207,589,213

G

RT1 class II, locus Ba

susceptibility

DNA:polymorphisms:cds:HLA-DQA1*0201, HLA-DQA1*0302 (human)

RGD

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

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphism:cds:HLA-DQB1*0602 (human)

RGD

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

G

secretoglobin, family 3A, member 2

protein:increased expression:sputum
mRNA,protein:decreased expression:nasal mucosa

RGD

PMID:17218572 PMID:21385388

RGD:5144232, RGD:5147389

NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762

G

serpin family E member 1

susceptibility

DNA:polymorphism:promoter:rs1799768 (human)

RGD

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

G

surfactant protein D

susceptibility

associated with Hypersensitivity;DNA:polymorphism: :p.M11T (human)

RGD

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

G

transporter 1, ATP binding cassette subfamily B member

susceptibility
no_association

DNA:SNPs: :

RGD

PMID:17982230 PMID:12018331

RGD:6482262, RGD:6482274

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

G

thromboxane A2 receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:8,383,347...8,390,753
Ensembl chr 7:8,383,378...8,388,176

G

transforming growth factor, beta 1

associated with Sinusitis

RGD

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

G

toll-like receptor 2

susceptibility
no_association

DNA:SNPs: :597T>C, 1350T>C (human)
mRNA:decreased expression:nasal mucosa:
associated with Sinusitis;DNA:SNPs: :multiple (human)

RGD

PMID:19763595 PMID:18219831 PMID:19128592

RGD:4145354, RGD:7800742, RGD:4145356

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

G

toll-like receptor 6

associated with Asthma;DNA:SNP: :rs2381289 (human)

RGD

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

G

tumor necrosis factor

mRNA:increased expression:nose

RGD

PMID:15120189 PMID:20696593

RGD:4143470, RGD:4145454

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

G

vascular endothelial growth factor A

protein:increased expression:sputum

RGD

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

G

vasoactive intestinal peptide

CTD Direct Evidence: marker/mechanism

PMID:12746121 PMID:14680090

NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216

rhinoscleroma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RT1 class II, locus Ba

susceptibility

DNA:haplotype: :

RGD

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

G

RT1 class II, locus Bb

susceptibility

DNA:haplotype: :

RGD

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

Rhinosinusitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

annexin A1

associated with Nasal Polyps

RGD

NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343

G

complement C3

protein:increased expression:serum

RGD

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

G

complement C4A

disease_progression

DNA:deletion: :

RGD

NCBI chr20:4,005,731...4,020,083
Ensembl chr20:4,005,731...4,020,080

G

C-C motif chemokine ligand 20

RGD

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

G

hepatocyte growth factor

susceptibility

DNA:haplotype::rs38850,rs38855,rs38857(human)

RGD

NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409

G

insulin-like growth factor 1

mRNA:increased expression:nose:

RGD

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

G

interleukin 10

protein:decreased expression:blood, mononuclear cell

RGD

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

G

interleukin 17A

associated with Asthma;mRNA, protein:increased expression:nasal polyps (human)

RGD

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

G

interleukin 1 beta

protein:increased expression:nasal cavity epithelium

RGD

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

G

interleukin 22 receptor subunit alpha 1

susceptibility

DNA:SNPs:5' utr, intron: (rs4292900, rs16829225, rs4648936) (human)

RGD

NCBI chr 5:147,961,496...147,986,296
Ensembl chr 5:147,961,349...147,986,296

G

interleukin 4

treatment

associated with Asthma

RGD

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

G

matrix metallopeptidase 9

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

mucin 5AC, oligomeric mucus/gel-forming

treatment

RGD

PMID:23131200 PMID:19389874

RGD:7349403, RGD:7364734

NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475

G

protein activator of interferon induced protein kinase EIF2AK2

severity

associated with Nasal Polyps

RGD

NCBI chr 3:61,575,447...61,594,393
Ensembl chr 3:61,575,447...61,594,347

G

serpin family E member 1

protein:increased expression:nasal mucosa (human)

RGD

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

G

toll-like receptor 2

susceptibility

mRNA,protein:increased expression:paranasal sinus
DNA:polymorphisms:: rs3804099,rs3804100(human)

RGD

PMID:22182736 PMID:21493395

RGD:7800733, RGD:8552975

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

G

toll-like receptor 4

mRNA,protein:increased expression:paranasal sinus

RGD

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

G

tumor necrosis factor

protein:increased expression:nasal cavity epithelium

RGD

PMID:11197112 PMID:20147558

RGD:7401169, RGD:7401236

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

Rhinosinusitis, Allergic Fungal

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RT1 class II, locus Bb

DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0302 (human)

RGD

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

Seasonal Allergic Rhinitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arachidonate 5-lipoxygenase

RGD

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

G

apolipoprotein A4

resistance

protein:increased expression:blood serum (human)

RGD

NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469

G

brain-derived neurotrophic factor

severity

protein:increased expression:blood, nasal cavity epithelium

RGD

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

G

C-C motif chemokine ligand 5

protein:increased expression:inferior turbinate, epithelium (human)

RGD

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

G

chymase 1

protein:increased expression:nasal mucosa, mast cell (human)

RGD

NCBI chr15:29,417,451...29,420,233
Ensembl chr15:29,417,451...29,420,233

G

fibrinogen alpha chain

RGD

NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528

G

glutathione S-transferase omega 1

protein:decreased expression;T lymphocyte:

RGD

NCBI chr 1:246,721,089...246,731,228
Ensembl chr 1:246,721,221...246,731,468

G

intercellular adhesion molecule 1

protein:increased secretion:nasopharynx, secretion (human)

RGD

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

G

interferon gamma receptor 1

DNA: SNP: Leu467Pro

RGD

NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785

G

interleukin 10

treatment

RGD

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

G

interleukin 18

susceptibility
no_association

DNA:SNPs:promoters, exon:multiple
DNA:SNPs:promoters:multiple

RGD

PMID:12532106 PMID:12532106

RGD:8655871, RGD:8655871

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

G

interleukin 4

protein:increased expression:serum
mRNA:increased expression:nose:

RGD

PMID:9237816 PMID:7551298

RGD:7829817, RGD:8662960

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

G

kinase insert domain receptor

protein:increased expression:nasal cavity of mucosa:

RGD

NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018

G

melanocortin 1 receptor

no_association

RGD

NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192

G

matrix metallopeptidase 9

DNA:SNPs:promoter, intron, cds:-1590C>T, 2127G>T, p.R668Q (rs3918242, rs2274755, rs17577) (human)

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

nucleotide-binding oligomerization domain containing 1

susceptibility

DNA:SNP: :rs2075817 (human)

RGD

NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404

G

nucleotide-binding oligomerization domain containing 2

susceptibility

DNA:polymorphisms:5'UTR/exon, exon:rs5743266, rs2066842 (human)

RGD

NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177

G

prostaglandin-endoperoxide synthase 1

protein:increased expression:respiratory system epithelium

RGD

NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586

G

RT1 class II, locus Bb

susceptibility

DNA:polymorphism:cds:HLA-DQB1*05 (human)
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0301, HLA-DQB1*0501 (human)

RGD

PMID:22032123 PMID:9641569

RGD:7421561, RGD:7421576

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

G

secretoglobin family 1A member 1

mRNA, protein:decreased expression:nasal lavage fluid

RGD

NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610

G

toll-like receptor 3

protein:decreased expression:bone marrow, blood, eosinophil (human)

RGD

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

G

toll-like receptor 4

susceptibility

DNA:polymorphisms:cds:p.D299G, T399I (human)

RGD

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

G

vascular endothelial growth factor A

mRNA,protein:increased expression:nasal biopsies,nasal lavage fluid:

RGD

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

sinonasal undifferentiated carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mastermind-like transcriptional coactivator 3

CTD Direct Evidence: marker/mechanism

NCBI chr 2:135,720,431...136,137,829
Ensembl chr 2:135,721,021...136,137,814

G

paired box 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

RGD

NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620

sinusitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-2-glycoprotein 1, zinc-binding

CTD Direct Evidence: marker/mechanism

NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091

G

C-C motif chemokine ligand 4

RGD

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

G

complement factor B

protein:decreased expression:serum

RGD

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

G

CF transmembrane conductance regulator

susceptibility

DNA:mutations: :
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:16083808 PMID:11773581

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

G

chitinase, acidic

severity

mRNA:decreased expression:sinus, epithelial cell (human)

RGD

NCBI chr 2:193,614,374...193,656,532
Ensembl chr 2:193,614,114...193,656,533

G

C-X-C motif chemokine ligand 6

associated with Rhinitis;mRNA:increased expression:paranasal sinus

RGD

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

G

interleukin 13

susceptibility

associated with asthma; DNA:polymorphisms:promoter:c. -1510A>C, -1055C>T (human)
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:20358028 PMID:20358028

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

G

interleukin 1 beta

associated with Hypersensitivity

RGD

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

G

interleukin 2

RGD

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

G

lymphotoxin alpha

susceptibility

DNA:polymorphism: :

RGD

NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859

G

MET proto-oncogene, receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876

G

matrix metallopeptidase 9

protein:increased expression::

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

mucin 5B, oligomeric mucus/gel-forming

protein:increased secretion:sinus mucus

RGD

NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250

G

nuclear receptor subfamily 3, group C, member 1

RGD

NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375

G

platelet derived growth factor subunit B

protein: increased expression: nasal cavity epithelium

RGD

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

G

prolactin induced protein

CTD Direct Evidence: marker/mechanism

NCBI chr 4:70,787,627...70,791,921
Ensembl chr 4:70,787,627...70,791,921

G

plasminogen activator, urokinase

RGD

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

G

plasminogen activator, urokinase receptor

RGD

NCBI chr 1:80,053,440...80,068,384
Ensembl chr 1:80,050,324...80,068,595

G

protein phosphatase 1, regulatory subunit 9B

CTD Direct Evidence: marker/mechanism

NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083

G

secretoglobin, family 3A, member 2

mRNA,protein:decreased expression:nasal mucosa

RGD

NCBI chr18:35,932,840...35,935,762
Ensembl chr18:35,932,840...35,935,762

G

surfactant protein A1

associated with Cystic Fibrosis;mRNA:increased expression:respiratory system mucosa

RGD

NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685

G

surfactant protein D

associated with Cystic Fibrosis;mRNA:increased expression:respiratory system mucosa

RGD

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

G

toll-like receptor 2

mRNA:increased expression:nasal cavity epithelium:

RGD

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

G

toll-like receptor 4

associated with Pneumococal Infections;
mRNA:increased expression:nasal cavity epithelium:

RGD

PMID:16301373 PMID:14743629

RGD:7800729, RGD:8552991

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

G

toll-like receptor 9

Chronic Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human)
Acute Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human)

RGD

PMID:17283572 PMID:18416964

RGD:5130870, RGD:5130708

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

tonsillitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

insulin-like growth factor binding protein 3

treatment

RGD

NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083

torsion dystonia 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tubulin, beta 4A class IVa

ClinVar Annotator: match by term: Torsion dystonia 4
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 More...

NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291

tracheal disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CF transmembrane conductance regulator

DNA:deletion,mutation: :

RGD

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

tracheal stenosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dopamine receptor D1

mRNA:decreased expression:medial dorsal nucleus of thalamus (rat)

RGD

NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002

G

transforming growth factor, beta 1

susceptibility

associated with Ventilator-Induced Lung Injury;DNA:polymorphism: :-509C>T (human)

RGD

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

Tracheoesophageal Fistula

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adducin 1

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182

G

APC membrane recruitment protein 3

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr 9:36,790,355...36,802,341
Ensembl chr 9:36,790,932...36,802,419

G

adaptor related protein complex 1 subunit gamma 2

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr15:28,571,571...28,579,421
Ensembl chr15:28,571,568...28,589,004

G

APC regulator of WNT signaling pathway 2

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310

G

bone morphogenetic protein 4

RGD

NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306

G

BRCA2, DNA repair associated

ClinVar Annotator: match by term: Tracheoesophageal fistula

PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:11179017 More...

NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567

G

BRCA1 interacting helicase 1

ClinVar Annotator: match by term: Tracheoesophageal fistula

PMID:2455662 PMID:3375802 PMID:16116421 PMID:16116423 PMID:16116424 More...

NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324

G

cadherin, EGF LAG seven-pass G-type receptor 2

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845

G

elongation factor Tu GTP binding domain containing 2

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr10:87,804,893...87,852,181
Ensembl chr10:87,804,892...87,846,079

G

fibroblast growth factor receptor 2

associated with Esophageal Atresia;mRNA:decreased expression: tracheoesophageal septum, epithelium, mesenchyme (rat)

RGD

NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626

G

phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr11:30,864,896...30,891,125
Ensembl chr11:30,865,889...30,891,125

G

glutaminase

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900

G

general transcription factor IIIC subunit 1

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr 1:180,203,995...180,270,201
Ensembl chr 1:180,203,995...180,270,201

G

interferon regulatory factor 8

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829

G

intersectin 1

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645

G

kelch-like family member 17

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925

G

leucine rich adaptor protein 1-like

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr 5:95,362,005...95,409,439
Ensembl chr 5:95,362,005...95,409,438

G

protocadherin 1

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr18:30,011,692...30,039,679
Ensembl chr18:30,013,185...30,039,318

G

proprotein convertase subtilisin/kexin type 5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600

G

phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr 4:172,483,752...172,851,623
Ensembl chr 4:172,484,345...172,850,544

G

RNA polymerase II subunit B

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr14:30,797,228...30,834,916
Ensembl chr14:30,797,228...30,834,916

G

protein tyrosine phosphatase, non-receptor type 14

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088

G

RAB3 GTPase activating non-catalytic protein subunit 2

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478

G

sodium channel and clathrin linker 1

ClinVar Annotator: match by term: Tracheoesophageal fistula

PMID:25741868 PMID:28492532

NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065

G

SMAD family member 6

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763

G

tectonin beta-propeller repeat containing 1

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr12:10,391,587...10,420,462
Ensembl chr12:10,391,696...10,419,611

G

toll-like receptor 9

ClinVar Annotator: match by term: Tracheoesophageal fistula

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

G

WD repeat and FYVE domain containing 3

ClinVar Annotator: match by term: Tracheoesophageal fistula

NCBI chr14:7,578,245...7,810,491
Ensembl chr14:7,606,628...7,810,482

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: :

RGD

NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407

G

vitamin D receptor

GAD

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

VACTERL association

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ciliogenesis and planar polarity effector complex subunit 2

OMIM:192350 | OMIM:276950

NCBI chr 5:153,515,507...153,516,455
Ensembl chr 5:153,515,376...153,522,508

G

dynein cytoplasmic 2 heavy chain 1

OMIM:192350 | OMIM:276950

NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183

G

FA complementation group L

ClinVar Annotator: match by term: VATER association

PMID:19405097 PMID:23613520 PMID:25754594 PMID:28492532

NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255

G

fibronectin 1

protein:increased expression:embryo

RGD

NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678

G

forkhead box F1

ClinVar Annotator: match by term: VATER association

PMID:2629409 PMID:26294094

NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738

G

GLI family zinc finger 2

RGD

NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574

G

GLI family zinc finger 3

RGD

NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712

G

homeo box D13

ClinVar Annotator: match by term: VACTERL association
CTD Direct Evidence: marker/mechanism

NCBI chr 3:59,570,647...59,573,963
Ensembl chr 3:59,570,646...59,573,963

G

intraflagellar transport 172

OMIM:192350 | OMIM:276950

NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860

G

notch receptor 2

ClinVar Annotator: match by term: VATER association

PMID:25741868 PMID:28492532

NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088

G

proprotein convertase subtilisin/kexin type 5

CTD Direct Evidence: marker/mechanism
OMIM:192350 | OMIM:276950
DNA:mutation:exon:p.C470R(mouse)

CTD
MouseDO
RGD

PMID:18519639 PMID:18519639

NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600

G

quiescin sulfhydryl oxidase 1

OMIM:192350 | OMIM:276950

NCBI chr13:67,949,780...67,987,434
Ensembl chr13:67,949,780...67,987,459

G

sonic hedgehog signaling molecule

RGD

NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170

G

TBC1 domain family, member 32

OMIM:192350 | OMIM:276950

NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415

G

TNF receptor-associated protein 1

ClinVar Annotator: match by term: VACTERL association

NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981

X-linked VACTERL association

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bromodomain adjacent to zinc finger domain, 1A

ClinVar Annotator: match by term: VATER/VACTERL association with CNS malformations

NCBI chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459

G

FA complementation group B

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL ASSOCIATION, X-LINKED | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus | ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: VACTERL-H, X-LINKED | ClinVar Annotator: match by term: X-linked VACTERL-H syndrome

PMID:24033266 PMID:25741868 PMID:28492532 PMID:32546565

NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192

G

FA complementation group L

ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

PMID:19405097 PMID:23613520 PMID:25741868 PMID:25754594 PMID:28492532 More...

NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL-H | ClinVar Annotator: match by term: Vater association with macrocephaly and ventriculomegaly

PMID:10866302 PMID:11748304 PMID:17526800 PMID:17526801 PMID:17942903 More...

NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838

G

spalt-like transcription factor 1

ClinVar Annotator: match by term: VACTERL-H

NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705

G

Zic family member 3

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked | ClinVar Annotator: match by term: VACTERL association, X-linked, with or without hydrocephalus

OMIM
CTD
ClinVar

PMID:2629409 PMID:10980576 PMID:14681828 PMID:17764085 PMID:23427188 More...

NCBI chr X:136,123,662...136,129,627
Ensembl chr X:136,124,026...136,134,746

Term paths to the root

Path 1
Term	Annotations
disease	21128
disease of anatomical entity	18211
respiratory system disease	3609
upper respiratory tract disease	426
acute laryngopharyngitis	0
adenoid hypertrophy	0
adenoiditis	1
common cold	19
epiglottitis	0
laryngeal disease +	69
laryngotracheitis	0
leprosy +	35
mucocutaneous leishmaniasis	3
nasopharyngeal disease +	74
nose disease +	230
pharyngitis +	2
scarlet fever	0
tonsillitis +	1
tracheal disease +	55
uvulitis	0

paths to the root