bronchiectasis - 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:	bronchiectasis	go back to main search page
Accession:	DOID:9563	browse the term
Definition:	A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances. (DO)
Synonyms:	exact_synonym:	Polynesian bronchiectasis; bronchiectases
	related_synonym:	cystic fibrosis-like syndrome
	primary_id:	MESH:D001987
	xref:	ICD10CM:J47; ICD10CM:J47.9; ICD9CM:494; MONDO:0004822; NCI:C84475; OMIM:PS211400; ORDO:60033

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Genes (43)

bronchiectasis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CF transmembrane conductance regulator

susceptibility

DNA:mutations, polymorphisms:
DNA:polymorphism:splice junction:IVS8 5T (human)
ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome

PMID:754013 PMID:1282016 PMID:1283148 PMID:1283149 PMID:1284466 More...

RGD:4140447, RGD:4140457

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

G

dynein, axonemal, intermediate chain 1

ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS

PMID:25741868 PMID:28492532

NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925

G

intercellular adhesion molecule 1

CTD Direct Evidence: marker/mechanism

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

G

interleukin 1 beta

protein:increased expression:sputum

RGD

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

G

mannose binding lectin 2

associated with Common Variable Immunodeficiency; protein:decreased secretion:serum (human)

RGD

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

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

myosin IXA

ClinVar Annotator: match by term: Bronchiectasis

NCBI chr 8:60,149,234...60,352,330
Ensembl chr 8:60,149,234...60,350,514

G

radial spoke head component 1

ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS

PMID:23993197 PMID:24518672 PMID:24568568 PMID:25741868 PMID:25789548 More...

NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640

G

sodium channel epithelial 1 subunit beta

ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome

PMID:9576123 PMID:9674649 PMID:15661075 PMID:16207733 PMID:18507830 More...

NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451

G

serpin family A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339

G

transporter 1, ATP binding cassette subfamily B member

susceptibility

DNA:polymorphisms:cds:p. I333V, D637G (human)

RGD

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

G

tumor necrosis factor

severity

CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma

CTD
RGD

PMID:17931847 PMID:18221721

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

G

ubiquitin specific peptidase 11

ClinVar Annotator: match by term: Bronchiectasis

NCBI chr X:1,473,349...1,489,520
Ensembl chr X:1,473,350...1,489,520

bronchiectasis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CF transmembrane conductance regulator

ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:754013 PMID:1282016 PMID:1283148 PMID:1283149 PMID:1284466 More...

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

G

lymphotoxin beta receptor

ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1

NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539

G

sodium channel epithelial 1 subunit alpha

ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1

NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181

G

sodium channel epithelial 1 subunit beta

ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:7777572 PMID:7954808 PMID:8589714 PMID:9118951 PMID:9576123 More...

NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451

G

TNF receptor superfamily member 1A

ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1

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

bronchiectasis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lymphotoxin beta receptor

ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2

NCBI chr 4:158,108,884...158,115,339
Ensembl chr 4:158,108,886...158,121,539

G

sodium channel epithelial 1 subunit alpha

ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2 | ClinVar Annotator: match by term: Idiopathic bronchiectasis
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1506904 PMID:10403853 PMID:10510337 PMID:10523338 PMID:11978598 More...

NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181

bronchiectasis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sodium channel epithelial 1 subunit gamma

ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 3
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:10391210 PMID:12473862 PMID:17460608 PMID:17560176 PMID:17634077 More...

NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816

Kartagener syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adaptor related protein complex 1 subunit beta 1

NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778

G

similar to human chromosome 1 open reading frame 127

NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369

G

coiled-coil domain containing 103

CTD Direct Evidence: marker/mechanism

NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757

G

coiled-coil domain 39 molecular ruler complex subunit

NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350

G

coiled-coil domain 40 molecular ruler complex subunit

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

PMID:16199547 PMID:21131974 PMID:22693285 PMID:23255504 PMID:25741868 More...

NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243

G

dynein assembly factor with WD repeats 1

NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:84,435,552...84,472,635

G

dynein, axonemal, assembly factor 1

ClinVar Annotator: match by term: Kartagener syndrome

PMID:19944400 PMID:19944405 PMID:28492532

NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313

G

dynein axonemal assembly factor 11

ClinVar Annotator: match by term: Kartagener syndrome

PMID:23122589 PMID:23891469 PMID:24307375 PMID:26139845 PMID:28492532

NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837

G

dynein, axonemal, assembly factor 2

ClinVar Annotator: match by term: Kartagener syndrome

PMID:19052621 PMID:24498942

NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199

G

dynein, axonemal, assembly factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344

G

dynein axonemal assembly factor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292

G

dynein, axonemal, heavy chain 1

ClinVar Annotator: match by term: Kartagener syndrome

PMID:25927852 PMID:28492532 PMID:32719396

NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350

G

dynein, axonemal, heavy chain 11

susceptibility

DNA:nonsense mutation, missense mutation: :R2852X, R3004Q

NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536

G

dynein, axonemal, heavy chain 5

susceptibility

DNA:mutations
ClinVar Annotator: match by term: Kartagener syndrome

ClinVar
MouseDO
RGD

PMID:11788826 PMID:16627867 PMID:19357118 PMID:19630565 PMID:23477994 More...

NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890

G

dynein, axonemal, intermediate chain 1

susceptibility

DNA:missense mutation, insertion, deletion:exon, intron:p.G515S
ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
RGD

PMID:9536098 PMID:10577904 PMID:11231901 PMID:16199547 PMID:16858015 More...

NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925

G

dynein, axonemal, intermediate chain 2

NCBI chr10:99,759,966...99,793,379
Ensembl chr10:99,759,966...99,793,378

G

dynein, axonemal, light chain 1

ClinVar Annotator: match by term: Kartagener syndrome

NCBI chr 6:103,747,801...103,779,015
Ensembl chr 6:103,747,753...103,778,878

G

dynein regulatory complex subunit 1

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

CTD
MouseDO
ClinVar

PMID:23354437 PMID:25741868

NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414

G

forkhead box J1

NCBI chr10:101,566,299...101,570,370
Ensembl chr10:101,566,304...101,570,237

G

mannose binding lectin 2

severity

DNA:haplotype:promoter:

RGD

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

G

outer dynein arm docking complex subunit 1

ClinVar Annotator: match by term: Kartagener syndrome

PMID:9536098 PMID:17576681 PMID:23261302 PMID:23261303 PMID:25741868 More...

NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925

G

outer dynein arm docking complex subunit 2

ClinVar Annotator: match by term: Kartagener syndrome

MouseDO
ClinVar

PMID:23806086 PMID:23849778 PMID:24088041 PMID:28492532

NCBI chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399

G

outer dynein arm docking complex subunit 3

ClinVar Annotator: match by term: Kartagener syndrome

MouseDO
ClinVar

PMID:25192045 PMID:25224326 PMID:25741868 PMID:28492532

NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499

G

RNA polymerase II, I and III subunit K

ClinVar Annotator: match by term: Kartagener syndrome

NCBI chr 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668

G

radial spoke head component 1

ClinVar Annotator: match by term: Kartagener syndrome | ClinVar Annotator: match by term: Siewert syndrome

PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 More...

NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640

G

radial spoke head component 4A

ClinVar Annotator: match by term: Kartagener syndrome

PMID:9536098 PMID:17576681 PMID:23798057 PMID:24824133 PMID:25741868 More...

NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574

G

slit guidance ligand 2

NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948

G

sperm associated antigen 1

ClinVar Annotator: match by term: Kartagener syndrome

PMID:24055112 PMID:25741868 PMID:26228299 PMID:27637300 PMID:28492532 More...

NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368

G

zinc finger, MYND-type containing 10

ClinVar Annotator: match by term: Kartagener syndrome

PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 More...

NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744

Term paths to the root

Path 1
Term	Annotations
disease	21128
disease of anatomical entity	18212
respiratory system disease	3610
lower respiratory tract disease	2296
bronchial disease	1016
bronchiectasis	43
Kartagener syndrome	29
bronchiectasis 1	5
bronchiectasis 2	2
bronchiectasis 3	1

paths to the root