Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

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 term browser browse the term
Definition:Persistent abnormal dilatation of the bronchi.
Synonyms:exact_synonym: Polynesian bronchiectasis;   bronchiectases
 related_synonym: cystic fibrosis-like syndrome
 primary_id: MESH:D001987
 xref: ICD10CM:J47;   ICD10CM:J47.9;   ICD9CM:494;   NCI:C84475;   OMIM:PS211400;   ORDO:60033
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
bronchiectasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator susceptibility ISO DNA:mutations, polymorphisms:
DNA:polymorphism:splice junction:IVS8 5T (human)
RGD PMID:7543317, PMID:12123489 RGD:4140447, RGD:4140457 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Polynesian bronchiectasis ClinVar PMID:22876777, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Polynesian bronchiectasis ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISO ClinVar Annotator: match by term: Polynesian bronchiectasis ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:80,947,730...81,143,997
NCBI chr 2:81,159,060...81,337,560
Ensembl chr 2:80,948,658...81,143,447
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17931847 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:sputum RGD PMID:10515411 RGD:4143181 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome ClinVar NCBI chr 4:157,822,838...157,829,291
Ensembl chr 4:157,822,840...157,829,241
JBrowse link
G Mbl2 mannose binding lectin 2 ISO associated with Common Variable Immunodeficiency; protein:decreased secretion:serum (human) RGD PMID:20568383 RGD:4889425 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression: : RGD PMID:19725099 RGD:5129526 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome ClinVar NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7785020 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member susceptibility ISO DNA:polymorphisms:cds:p. I333V, D637G (human) RGD PMID:17245734 RGD:5147842 NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
JBrowse link
G Tnf tumor necrosis factor severity ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma
CTD PMID:17931847, PMID:18221721 RGD:12904660 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome ClinVar NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Polynesian bronchiectasis ClinVar PMID:22876777, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
JBrowse link
G Usp11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: Bronchiectasis ClinVar NCBI chr  X:1,687,820...1,703,991
Ensembl chr  X:1,687,811...1,704,033
JBrowse link
bronchiectasis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator ISO 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
OMIM
ClinVar
PMID:1283148, PMID:1284534, PMID:1284538, PMID:1284639, PMID:1370365, PMID:1370875, PMID:1371265, PMID:1377276, PMID:1379210, PMID:1379413, PMID:1380673, PMID:1381146, PMID:1381723, PMID:1382316, PMID:1384321, PMID:1384328, PMID:1518030, PMID:1536179, PMID:1673094, PMID:1678049, PMID:1682496, PMID:1695717, PMID:1709778, PMID:1710599, PMID:1712898, PMID:1721624, PMID:1756602, PMID:1937486, PMID:1997384, PMID:1999830, PMID:2045102, PMID:2135388, PMID:2210767, PMID:2210768, PMID:2220803, PMID:2233932, PMID:2233965, PMID:2236053, PMID:2300168, PMID:2344617, PMID:2349952, PMID:2378364, PMID:2397487, PMID:2475911, PMID:2570460, PMID:5371902, PMID:7475569, PMID:7493947, PMID:7504969, PMID:7506096, PMID:7508414, PMID:7515303, PMID:7517268, PMID:7520798, PMID:7521937, PMID:7522211, PMID:7522329, PMID:7525450, PMID:7526685, PMID:7529962, PMID:7534040, PMID:7537148, PMID:7541274, PMID:7542778, PMID:7544319, PMID:7544788, PMID:7545869, PMID:7573058, PMID:7581407, PMID:7599637, PMID:7680769, PMID:7684641, PMID:7684646, PMID:7691344, PMID:7691345, PMID:7691356, PMID:7692051, PMID:7693946, PMID:7739684, PMID:7868128, PMID:8100293, PMID:8421472, PMID:8477260, PMID:8528204, PMID:8533846, PMID:8556303, PMID:8605891, PMID:8698344, PMID:8707306, PMID:8825494, PMID:8825927, PMID:8844213, PMID:8863168, PMID:9003498, PMID:9039981, PMID:9056552, PMID:9101293, PMID:9135274, PMID:9150159, PMID:9164051, PMID:9259194, PMID:9259197, PMID:9272157, PMID:9272738, PMID:9305991, PMID:9435322, PMID:9439669, PMID:9550361, PMID:9557894, PMID:9618063, PMID:9683582, PMID:9725922, PMID:9736778, PMID:9806422, PMID:9881185, PMID:9921909, PMID:9950763, PMID:10103316, PMID:10341008, PMID:10388469, PMID:10401194, PMID:10445602, PMID:10556281, PMID:10653141, PMID:10668931, PMID:10782933, PMID:10798368, PMID:10801389, PMID:10869121, PMID:10875853, PMID:10909845, PMID:10923036, PMID:11005149, PMID:11069835, PMID:11137998, PMID:11158459, PMID:11168024, PMID:11242048, PMID:11280952, PMID:11354633, PMID:11379874, PMID:11388756, PMID:11448786, PMID:11491164, PMID:11504857, PMID:11523757, PMID:11668613, PMID:11729110, PMID:11737931, PMID:11746017, PMID:11788090, PMID:11796434, PMID:12007216, PMID:12014388, PMID:12120234, PMID:12167682, PMID:12215837, PMID:12357328, PMID:12452372, PMID:12503104, PMID:12544470, PMID:12719375, PMID:12767731, PMID:12815607, PMID:12833420, PMID:12865275, PMID:12940920, PMID:14526128, PMID:14685937, PMID:14993601, PMID:14998948, PMID:15070876, PMID:15097853, PMID:15141088, PMID:15176679, PMID:15221447, PMID:15246977, PMID:15300780, PMID:15354332, PMID:15365999, PMID:15367919, PMID:15371902, PMID:15371903, PMID:15480987, PMID:15482777, PMID:15619636, PMID:15638824, PMID:15698945, PMID:15698946, PMID:15738290, PMID:15776432, PMID:15857421, PMID:15858154, PMID:15905293, PMID:15948195, PMID:15987793, PMID:15994263, PMID:16020494, PMID:16049310, PMID:16051530, PMID:16134171, PMID:16189704, PMID:16263954, PMID:16283068, PMID:16339147, PMID:16443646, PMID:16488363, PMID:16778407, PMID:16778595, PMID:16840743, PMID:16963320, PMID:16980811, PMID:17003641, PMID:17015492, PMID:17035430, PMID:17098482, PMID:17206681, PMID:17314234, PMID:17329263, PMID:17331079, PMID:17353351, PMID:17380060, PMID:17475917, PMID:17489851, PMID:17572159, PMID:17594397, PMID:17662673, PMID:17681820, PMID:17692578, PMID:18178635, PMID:18230692, PMID:18373402, PMID:18421494, PMID:18449561, PMID:18456578, PMID:18463704, PMID:18501000, PMID:18507830, PMID:18567645, PMID:18639722, PMID:18685558, PMID:18687795, PMID:18716917, PMID:18722008, PMID:18951463, PMID:19092437, PMID:19202204, PMID:19318035, PMID:19359498, PMID:19652440, PMID:19734299, PMID:19812525, PMID:19833837, PMID:19846789, PMID:19880712, PMID:19914431, PMID:20021716, PMID:20059485, PMID:20381036, PMID:20435887, PMID:20460946, PMID:20538955, PMID:20595578, PMID:20622033, PMID:20691141, PMID:20705837, PMID:20706124, PMID:20722470, PMID:20837875, PMID:20932301, PMID:20977904, PMID:21083385, PMID:21097845, PMID:21152102, PMID:21184098, PMID:21228398, PMID:21233271, PMID:21416780, PMID:21507732, PMID:21520337, PMID:21602569, PMID:21658649, PMID:21716075, PMID:21779199, PMID:21783433, PMID:21796730, PMID:21804385, PMID:21825083, PMID:21909392, PMID:21976485, PMID:22020151, PMID:22047557, PMID:22293084, PMID:22318583, PMID:22383668, PMID:22395041, PMID:22423042, PMID:22427236, PMID:22658665, PMID:22664493, PMID:22678879, PMID:22768251, PMID:22842702, PMID:22942289, PMID:22975760, PMID:22981120, PMID:22992668, PMID:23313410, PMID:23378603, PMID:23381846, PMID:23457292, PMID:23466340, PMID:23514810, PMID:23590265, PMID:23613805, PMID:23687349, PMID:23721890, PMID:23751316, PMID:23757359, PMID:23757361, PMID:23810505, PMID:23891399, PMID:23951356, PMID:23974870, PMID:24033266, PMID:24066763, PMID:24129438, PMID:24440181, PMID:24440239, PMID:24461666, PMID:24525081, PMID:24559724, PMID:24586523, PMID:24631642, PMID:24836205, PMID:24973281, PMID:25033378, PMID:25049054, PMID:25060775, PMID:25066652, PMID:25087612, PMID:25122143, PMID:25145599, PMID:25148434, PMID:25171465, PMID:25251442, PMID:25266159, PMID:25287046, PMID:25311995, PMID:25383785, PMID:25443471, PMID:25473543, PMID:25489051, PMID:25492507, PMID:25580864, PMID:25651269, PMID:25682022, PMID:25698453, PMID:25735457, PMID:25741868, PMID:25741869, PMID:25755212, PMID:25797027, PMID:25824995, PMID:25867140, PMID:25869325, PMID:25910067, PMID:25981758, PMID:26014425, PMID:26070913, PMID:26087176, PMID:26135562, PMID:26324139, PMID:26467025, PMID:26474553, PMID:26568242, PMID:26574590, PMID:26618866, PMID:26631874, PMID:26708955, PMID:26795017, PMID:26846474, PMID:26864378, PMID:26911355, PMID:26968770, PMID:27158673, PMID:27214033, PMID:27298017, PMID:27334259, PMID:27469177, PMID:27707539, PMID:27738188, PMID:27745802, PMID:27773592, PMID:27787503, PMID:27805836, PMID:27898234, PMID:28129809, PMID:28129811, PMID:28325531, PMID:28419121, PMID:28492532, PMID:28544683, PMID:28603918, PMID:28606620, PMID:28611235, PMID:28651844, PMID:28711222, PMID:28736296, PMID:28863137, PMID:29099333, PMID:29126871, PMID:29261177, PMID:29327948, PMID:29431110, PMID:29451946, PMID:29590070, PMID:29805046, PMID:30046002, PMID:30311386, PMID:30488522, PMID:31126253, PMID:238191399 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1
ClinVar Annotator: match by term: CYSTIC FIBROSIS-LIKE SYNDROME
OMIM
ClinVar
PMID:8589714, PMID:9118951, PMID:9576123, PMID:9674649, PMID:10523338, PMID:11439319, PMID:15661075, PMID:16207733, PMID:18507830, PMID:19017867, PMID:19462466, PMID:21504729, PMID:24033266, PMID:25333069, PMID:25741868, PMID:25900089, PMID:26038974, PMID:26467025, PMID:28492532 NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298
JBrowse link
bronchiectasis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2 ClinVar PMID:25741868 NCBI chr 4:157,822,838...157,829,291
Ensembl chr 4:157,822,840...157,829,241
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2
ClinVar Annotator: match by term: Idiopathic bronchiectasis
ClinVar Annotator: match by OMIM:613021
OMIM
ClinVar
PMID:1506904, PMID:9654209, PMID:10403853, PMID:10523338, PMID:11978598, PMID:15734793, PMID:16249274, PMID:19462466, PMID:20194130, PMID:21889619, PMID:21917531, PMID:23149595, PMID:23392097, PMID:24033266, PMID:25741868, PMID:26668308, PMID:28492532 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
JBrowse link
bronchiectasis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 3 OMIM
ClinVar
PMID:10391210, PMID:12473862, PMID:17460608, PMID:17634077, PMID:18507830, PMID:19462466, PMID:21956615, PMID:22995991, PMID:24033266, PMID:24882431, PMID:25741868, PMID:25900089, PMID:26467025, PMID:26537344, PMID:27884173, PMID:28492532, PMID:28497567, PMID:29229744, PMID:31655555 NCBI chr 1:191,704,397...191,738,271
Ensembl chr 1:191,704,311...191,738,268
JBrowse link
Kartagener syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISS MouseDO NCBI chr14:85,230,652...85,281,806
Ensembl chr14:85,230,648...85,281,803
JBrowse link
G Ccdc103 coiled-coil domain containing 103 ISO ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22581229, PMID:23891469, PMID:24033266, PMID:24357714, PMID:25326635, PMID:25741868, PMID:26123568, PMID:27637300, PMID:28492532, PMID:28790179, PMID:30311386 NCBI chr10:90,984,213...90,987,829
Ensembl chr10:90,984,227...90,987,823
JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISS MouseDO NCBI chr 2:120,278,605...120,367,829
Ensembl chr 2:120,278,605...120,316,600
JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:21131974, PMID:28492532, PMID:31443223 NCBI chr10:108,055,270...108,393,408
Ensembl chr10:108,340,240...108,372,862
JBrowse link
G Ccno cyclin O ISO ClinVar Annotator: match by term: Kartagener syndrome
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar PMID:24747639, PMID:28492532 NCBI chr 2:44,857,043...44,860,317
Ensembl chr 2:44,857,213...44,860,315
JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24094744, PMID:28492532 NCBI chr11:31,094,103...31,103,487
Ensembl chr11:31,094,084...31,103,520
JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISS MouseDO NCBI chr 9:88,964,530...89,001,568
Ensembl chr 9:88,964,525...89,001,567
JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19944400, PMID:19944405 NCBI chr19:52,217,427...52,245,930
Ensembl chr19:52,217,984...52,245,929
JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19052621, PMID:24498942 NCBI chr 6:91,481,439...91,490,189
Ensembl chr 6:91,481,954...91,490,366
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10745040, PMID:22387996, PMID:28492532 NCBI chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chr 8:79,637,678...79,651,892
Ensembl chr 8:79,638,696...79,651,884
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25927852 NCBI chr16:7,345,131...7,407,009
Ensembl chr16:7,345,978...7,408,265
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 susceptibility ISO
ISS
DNA:nonsense mutation, missense mutation: :R2852X, R3004Q MouseDO PMID:12142464 RGD:734893 NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 susceptibility ISO
ISS
DNA:mutations
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
MouseDO
PMID:19357118, PMID:19630565, PMID:23477994, PMID:28492532, PMID:11788826 RGD:1601080 NCBI chr 2:80,947,730...81,143,997
NCBI chr 2:81,159,060...81,337,560
Ensembl chr 2:80,948,658...81,143,447
JBrowse link
G Dnah8 dynein, axonemal, heavy chain 8 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24307375 NCBI chr20:9,301,317...9,560,805
Ensembl chr20:9,313,271...9,560,682
JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 susceptibility ISO DNA:missense mutation, insertion, deletion:exon, intron:p.G515S
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar Annotator: match by term: Primary ciliary dyskinesia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:244400
ClinVar
CTD
PMID:10577904, PMID:11231901, PMID:16858015, PMID:18434704, PMID:19675306, PMID:21143860, PMID:21270641, PMID:22416021, PMID:23477994, PMID:24033266, PMID:24498942, PMID:24912412, PMID:25741868, PMID:25802884, PMID:26918822, PMID:28492532, PMID:28939216, PMID:29363216, PMID:11231901 RGD:1601083 NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992
JBrowse link
G Dnai2 dynein, axonemal, intermediate chain 2 ISO
ISS
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
MouseDO
PMID:18950741 NCBI chr10:103,266,343...103,301,521
Ensembl chr10:103,266,296...103,301,544
JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:21496787 NCBI chr 6:107,596,785...107,623,869
Ensembl chr 6:107,596,782...107,625,214
JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9343467, PMID:12746204, PMID:23354437, PMID:23571587, PMID:24033266, PMID:25741868, PMID:27260402, PMID:28492532 NCBI chr 6:27,425,237...27,460,038
Ensembl chr 6:27,425,235...27,460,038
JBrowse link
G Foxj1 forkhead box J1 ISS MouseDO NCBI chr10:105,282,090...105,289,396 JBrowse link
G Hydin Hydin, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:14985390, PMID:23022101 NCBI chr19:41,036,507...41,379,634
Ensembl chr19:41,036,510...41,379,588
JBrowse link
G LOC691354 hypothetical protein LOC691354 ISS MouseDO NCBI chr 5:165,464,832...165,491,375
Ensembl chr 5:165,465,095...165,481,914
JBrowse link
G Lrrc6 leucine rich repeat containing 6 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:8066563, PMID:12162599, PMID:14656747, PMID:19606528, PMID:23122589, PMID:23527195, PMID:23891469, PMID:24307375, PMID:28492532 NCBI chr 7:107,130,402...107,231,507
Ensembl chr 7:107,130,402...107,223,047
JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO DNA:haplotype:promoter: RGD PMID:24753481 RGD:11250592 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:1523039, PMID:8813877, PMID:25048963 NCBI chr 2:44,863,246...44,869,732
Ensembl chr 2:44,863,252...44,870,536
JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23261302, PMID:23261303, PMID:25741868, PMID:28492532 NCBI chr 1:101,904,042...101,932,999
Ensembl chr 1:101,906,903...101,932,998
JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISS
ISO
ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar
PMID:23806086, PMID:23849778, PMID:24088041, PMID:28492532 NCBI chr17:60,283,926...60,474,289
Ensembl chr17:60,287,203...60,474,031
JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO
ISS
ClinVar Annotator: match by term: Kartagener syndrome ClinVar
MouseDO
PMID:25192045, PMID:25224326 NCBI chr 8:23,000,912...23,014,707
Ensembl chr 8:23,000,872...23,014,499
JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 NCBI chr 7:74,939,010...74,992,594
Ensembl chr 7:74,989,223...74,992,582
JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23993197, PMID:24033266, PMID:24518672, PMID:24568568, PMID:26139845, PMID:28492532 NCBI chr20:9,998,698...10,020,719
Ensembl chr20:9,998,701...10,013,559
JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:26073779, PMID:28492532 NCBI chr 1:47,412,151...47,478,924
Ensembl chr 1:47,426,258...47,477,524
JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23798057, PMID:24824133, PMID:25741868, PMID:28492532 NCBI chr20:32,450,701...32,467,362
Ensembl chr20:32,450,733...32,467,194
Ensembl chr20:32,450,733...32,467,194
JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:66,831,848...67,171,491
Ensembl chr14:66,831,848...67,170,361
JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112, PMID:25741868, PMID:26228299, PMID:27637300, PMID:28492532 NCBI chr 7:74,994,379...75,054,294
Ensembl chr 7:74,994,605...75,054,293
JBrowse link
G Zmynd10 zinc finger, MYND-type containing 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:23891469, PMID:23891471, PMID:28492532 NCBI chr 8:116,302,513...116,306,871
Ensembl chr 8:116,302,513...116,306,870
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      respiratory system disease 2748
        bronchial disease 794
          bronchiectasis 49
            Kartagener syndrome 35
            bronchiectasis 1 2
            bronchiectasis 2 2
            bronchiectasis 3 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      respiratory system disease 2748
        lower respiratory tract disease 1684
          bronchial disease 794
            bronchiectasis 49
              Kartagener syndrome 35
              bronchiectasis 1 2
              bronchiectasis 2 2
              bronchiectasis 3 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.