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: Respiratory System Abnormalities
Accession: DOID:9007870
browse the term
Definition: Congenital structural abnormalities of the respiratory system.
Synonyms: exact_synonym: Respiratory System Abnormality
primary_id: MESH:D015619 ; RDO:0003779
For additional species annotation, visit the
Alliance of Genome Resources .
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Pdgfra
platelet derived growth factor receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11023856
NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
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Tgfb2
transforming growth factor, beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9217007
NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
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Tgfb3
transforming growth factor, beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7493022
NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
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Mrps22
mitochondrial ribosomal protein S22
ISO
ClinVar Annotator: match by term: 46,XX gonadal dysgenesis
ClinVar
PMID:29566152
NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
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Wnt4
Wnt family member 4
ISO
ClinVar Annotator: match by term: Serkal syndrome ClinVar Annotator: match by OMIM:611812
OMIM ClinVar
PMID:18179883 PMID:25741868
NCBI chr 5:155,649,238...155,668,065
Ensembl chr 5:155,649,217...155,672,579
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Smchd1
structural maintenance of chromosomes flexible hinge domain containing 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Arhinia choanal atresia microphthalmia
CTD ClinVar OMIM
PMID:672092 PMID:5032329 PMID:6802865 PMID:8446727 PMID:8723126 PMID:11321738 PMID:16353241 PMID:23143600 PMID:23432817 PMID:23852095 PMID:25741868 PMID:26440771 PMID:26842768 PMID:28067909 PMID:28067911
NCBI chr 9:119,675,750...119,818,620
Ensembl chr 9:119,676,628...119,818,310
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Adnp2
ADNP homeobox 2
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:76,637,415...76,661,186
Ensembl chr18:76,637,785...76,653,056
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Atp9b
ATPase phospholipid transporting 9B (putative)
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:77,343,551...77,535,608
Ensembl chr18:77,343,551...77,535,593
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Ctdp1
CTD phosphatase subunit 1
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:76,922,913...76,985,095
Ensembl chr18:76,922,934...76,984,203
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Galr1
galanin receptor 1
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:79,243,009...79,258,570
Ensembl chr18:79,243,009...79,258,570
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Hsbp1l1
heat shock factor binding protein 1-like 1
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:76,748,067...76,754,642
Ensembl chr18:76,748,067...76,753,902
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Kcng2
potassium voltage-gated channel modifier subfamily G member 2
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:76,808,294...76,880,742
Ensembl chr18:76,809,144...76,878,981
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Mbp
myelin basic protein
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
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Nfatc1
nuclear factor of activated T-cells 1
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:77,203,517...77,322,690
Ensembl chr18:77,203,525...77,322,690
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Pard6g
par-6 family cell polarity regulator gamma
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:76,559,877...76,627,843
Ensembl chr18:76,559,811...76,628,041
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Rbfa
ribosome binding factor A
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:76,704,223...76,714,387
Ensembl chr18:76,704,220...76,714,486
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Sall3
spalt-like transcription factor 3
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:77,572,200...77,591,710
Ensembl chr18:77,573,702...77,579,969
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Slc66a2
solute carrier family 66 member 2
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:76,768,466...76,805,773
Ensembl chr18:76,770,012...76,805,766
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Txnl4a
thioredoxin-like 4A
ISO
ClinVar Annotator: match by term: Burn-Mckeown syndrome ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar OMIM
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003
NCBI chr18:76,725,221...76,740,673
Ensembl chr18:76,725,247...76,740,688
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Zfp236
zinc finger protein 236
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:79,447,384...79,543,271
Ensembl chr18:79,451,204...79,543,219
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Zfp516
zinc finger protein 516
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr18:79,768,387...79,857,909
Ensembl chr18:79,773,608...79,854,192
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Ptpn14
protein tyrosine phosphatase, non-receptor type 14
ISO
ClinVar Annotator: match by term: Choanal atresia and lymphedema ClinVar Annotator: match by OMIM:613611
OMIM ClinVar
PMID:20826270
NCBI chr13:108,689,916...108,841,593
Ensembl chr13:108,696,336...108,841,511
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Fras1
Fraser extracellular matrix complex subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17163535
NCBI chr14:14,438,392...14,853,016
Ensembl chr14:14,439,082...14,689,554
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Frem1
Fras1 related extracellular matrix 1
ISS
OMIM:219000
MouseDO
NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
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Frem2
FRAS1 related extracellular matrix 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17163535
NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
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Grip1
glutamate receptor interacting protein 1
ISS
OMIM:219000
MouseDO
NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404
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Fras1
Fraser extracellular matrix complex subunit 1
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar Annotator: match by term: Cryptophthalmos syndrome ClinVar Annotator: match by term: FRASER SYNDROME 1 ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME ClinVar Annotator: match by OMIM:219000
ClinVar OMIM
PMID:12766769 PMID:16894541 PMID:17163535 PMID:18671281 PMID:21900877 PMID:22029163 PMID:23532946 PMID:24476948 PMID:24551978 PMID:24583203 PMID:24700879 PMID:25353622 PMID:25741868 PMID:26893459 PMID:27280866 PMID:28492532 PMID:31319225 , PMID:12766769
RGD:1598960
NCBI chr14:14,438,392...14,853,016
Ensembl chr14:14,439,082...14,689,554
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Frem2
FRAS1 related extracellular matrix 2
ISO
ClinVar Annotator: match by OMIM:219000 ClinVar Annotator: match by term: Fraser syndrome 1 ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME
ClinVar
PMID:25741868 PMID:26275891 PMID:28492532
NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
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Grip1
glutamate receptor interacting protein 1
ISO
ClinVar Annotator: match by OMIM:219000 ClinVar Annotator: match by term: Cryptophthalmos syndrome ClinVar Annotator: match by term: CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404
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Frem2
FRAS1 related extracellular matrix 2
IAGP ISO
ClinVar Annotator: match by term: FRASER SYNDROME 2
ClinVar OMIM
PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:25741868 PMID:26275891 PMID:28492532 PMID:29688405 PMID:30802441 , PMID:21756877
RGD:13464328
NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
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Frem2fpl
Fras1 related extracellular matrix protein 2;fpl mutant
IAGP
RGD
PMID:21756877
RGD:13464328
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Adamts14
ADAM metallopeptidase with thrombospondin type 1 motif, 14
ISO
ClinVar Annotator: match by term: FRASER SYNDROME 3
ClinVar
NCBI chr20:30,812,319...30,888,936
Ensembl chr20:30,812,353...30,888,751
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Aipl1
aryl hydrocarbon receptor-interacting protein-like 1
ISO
ClinVar Annotator: match by term: FRASER SYNDROME 3
ClinVar
NCBI chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907
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Aspa
aspartoacylase
ISO
ClinVar Annotator: match by term: FRASER SYNDROME 3
ClinVar
NCBI chr10:59,839,693...59,888,244
Ensembl chr10:59,839,852...59,892,960
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Bclaf1
BCL2-associated transcription factor 1
ISO
ClinVar Annotator: match by term: FRASER SYNDROME 3
ClinVar
NCBI chr 1:15,799,753...15,828,838
Ensembl chr 1:15,782,477...15,860,624
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Borcs6
BLOC-1 related complex subunit 6
ISO
ClinVar Annotator: match by term: FRASER SYNDROME 3
ClinVar
NCBI chr10:55,642,070...55,643,924
Ensembl chr10:55,642,070...55,643,923
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Gnb5
G protein subunit beta 5
ISO
ClinVar Annotator: match by term: FRASER SYNDROME 3
ClinVar
NCBI chr 8:82,248,951...82,286,493
Ensembl chr 8:82,257,849...82,285,184
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Grip1
glutamate receptor interacting protein 1
ISO
ClinVar Annotator: match by term: FRASER SYNDROME 3
ClinVar OMIM
PMID:21383172 PMID:22510445 PMID:24033266 PMID:25741868 PMID:26539891 PMID:28492532
NCBI chr 7:64,672,723...64,854,939
Ensembl chr 7:64,672,722...64,864,404
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Lsm10
LSM10, U7 small nuclear RNA associated
ISO
ClinVar Annotator: match by term: FRASER SYNDROME 3
ClinVar
NCBI chr 5:144,106,339...144,108,703
Ensembl chr 5:144,106,802...144,108,708
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Med23
mediator complex subunit 23
ISO
ClinVar Annotator: match by term: FRASER SYNDROME 3
ClinVar
NCBI chr 1:21,539,765...21,587,675
Ensembl chr 1:21,539,765...21,586,910
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Mpc1
mitochondrial pyruvate carrier 1
ISO
ClinVar Annotator: match by term: FRASER SYNDROME 3
ClinVar
NCBI chr 1:53,026,608...53,038,229
Ensembl chr 1:53,026,608...53,038,229
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Myo18b
myosin XVIIIb
ISO
ClinVar Annotator: match by term: FRASER SYNDROME 3
ClinVar
NCBI chr12:49,761,100...49,979,745
Ensembl chr12:49,761,120...49,979,758
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Odad1
outer dynein arm docking complex subunit 1
ISO
ClinVar Annotator: match by term: FRASER SYNDROME 3
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:101,904,042...101,932,999
Ensembl chr 1:101,906,903...101,932,998
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: FRASER SYNDROME 3
ClinVar
PMID:28492532
NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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Spata22
spermatogenesis associated 22
ISO
ClinVar Annotator: match by term: FRASER SYNDROME 3
ClinVar
NCBI chr10:59,893,064...59,910,769
Ensembl chr10:59,879,850...59,911,051
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Tlcd3a
TLC domain containing 3A
ISO
ClinVar Annotator: match by term: FRASER SYNDROME 3
ClinVar
NCBI chr10:64,360,374...64,367,679
Ensembl chr10:64,360,390...64,366,586
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Wdr81
WD repeat domain 81
ISO
ClinVar Annotator: match by term: FRASER SYNDROME 3
ClinVar
NCBI chr10:62,273,817...62,287,213
Ensembl chr10:62,273,800...62,287,189
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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
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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
NCBI chr10:90,984,213...90,987,829
Ensembl chr10:90,984,227...90,987,823
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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
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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
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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
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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
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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
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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
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Dnaaf11
dynein axonemal assembly factor 11
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:23891469 PMID:24307375 PMID:28492532
NCBI chr 7:107,130,402...107,231,507
Ensembl chr 7:107,130,402...107,223,047
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Drc1
dynein regulatory complex subunit 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:12746204 PMID:23354437 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 6:27,425,237...27,460,038
Ensembl chr 6:27,425,235...27,460,038
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Foxj1
forkhead box J1
ISS
MouseDO
NCBI chr10:105,282,090...105,289,396
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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
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LOC691354
hypothetical protein LOC691354
ISS
MouseDO
NCBI chr 5:165,464,832...165,491,375
Ensembl chr 5:165,465,095...165,481,914
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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
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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
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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
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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
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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
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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
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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
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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
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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
G
Slit2
slit guidance ligand 2
ISS
MouseDO
NCBI chr14:66,831,848...67,171,491
Ensembl chr14:66,831,848...67,170,361
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
G
Zmynd10
zinc finger, MYND-type containing 10
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:23891469 PMID:23891471 PMID:25741868 PMID:28492532
NCBI chr 8:116,302,513...116,306,871
Ensembl chr 8:116,302,513...116,306,870
G
Ankrd1
ankyrin repeat domain 1
ISO
ClinVar Annotator: match by term: Total anomalous pulmonary venous return
ClinVar
PMID:19525294 PMID:19608031 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 1:254,726,985...254,745,673
Ensembl chr 1:254,726,969...254,735,548
G
Smad2
SMAD family member 2
ISO
ClinVar Annotator: match by term: Anomalous pulmonary venous return
ClinVar
NCBI chr18:72,550,107...72,612,078
Ensembl chr18:72,550,219...72,612,078
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
16123
disease of anatomical entity
15370
respiratory system disease
2708
Respiratory System Abnormalities
78
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs
2
Bronchogenic Cyst
0
Bronchopulmonary Sequestration
0
Cystic Adenomatoid Malformation of Lung, Congenital
0
Fraser syndrome +
20
Fraser-Like Syndrome
0
Kartagener syndrome
35
Laryngocele
0
Oculoauriculofrontonasal Syndrome
0
Tracheobronchomegaly
0
choanal atresia +
17
laryngostenosis
0
scimitar syndrome +
2
Path 2
disease
16123
Developmental Diseases
9597
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
8441
Congenital Abnormalities
4761
Respiratory System Abnormalities
78
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs
2
Bronchogenic Cyst
0
Bronchopulmonary Sequestration
0
Cystic Adenomatoid Malformation of Lung, Congenital
0
Fraser syndrome +
20
Fraser-Like Syndrome
0
Kartagener syndrome
35
Laryngocele
0
Oculoauriculofrontonasal Syndrome
0
Tracheobronchomegaly
0
choanal atresia +
17
laryngostenosis
0
scimitar syndrome +
2