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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:Respiration Disorders
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Accession:DOID:9004659 term browser browse the term
Definition:Diseases of the respiratory system in general or unspecified or for a specific respiratory disease not available.
Synonyms:exact_synonym: Respiration Disorder
 primary_id: MESH:D012120;   RDO:0004806
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Respiration Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdnf brain-derived neurotrophic factor ISO RGD PMID:8757249 RGD:8655536 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 ISO Severe Acute Respiratory Syndrome; mRNA:increased expression:lung (mouse) RGD PMID:19906920 RGD:4891446 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:9506701 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6131355 NCBI chr 3:122,194,327...122,206,671
Ensembl chr 3:122,194,329...122,206,671
JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18288317 NCBI chr 1:225,279,698...225,283,246
Ensembl chr 1:225,279,676...225,283,326
JBrowse link
acute chest syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with sickle cell anemia; RGD PMID:23590899 RGD:10450838 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO associated with Anemia, Sickle Cell;DNA:deletion:: (human) RGD PMID:23590899 RGD:10450838 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hbb hemoglobin subunit beta ISO DNA:SNPs, haplotypes RGD PMID:23952145 RGD:10449047 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hmox1 heme oxygenase 1 ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter RGD PMID:22966170 RGD:10755560 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeats:intron:
associated with Anemia, Sickle Cell;DNA:polymorphism: :-786T>C(human)
RGD PMID:25263931, PMID:14687036 RGD:11533931, RGD:11533934 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO associated with Anemia, Sickle Cell;DNA:polymorphism:583C > T (human)
associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human)
RGD PMID:25130874, PMID:22925497 RGD:11075233, RGD:11075235 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
adult respiratory distress syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acaa2 acetyl-CoA acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr18:70,733,872...70,762,395
Ensembl chr18:70,733,872...70,762,395
JBrowse link
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:12204859, PMID:22009550, PMID:15118671 RGD:1331525 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ace2 angiotensin I converting enzyme 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22009550 NCBI chr  X:32,050,734...32,095,860
Ensembl chr  X:32,049,931...32,096,016
JBrowse link
G Aco2 aconitase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 7:123,102,493...123,145,608
Ensembl chr 7:123,102,468...123,145,635
JBrowse link
G Ager advanced glycosylation end product-specific receptor IEP protein:increased expression:lung RGD PMID:16456142 RGD:1625343 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Alad aminolevulinate dehydratase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
JBrowse link
G Alb albumin ISO CTD Direct Evidence: therapeutic CTD PMID:12394941 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ambp alpha-1-microglobulin/bikunin precursor ISO RGD PMID:15710155 RGD:6904148 NCBI chr 5:78,975,690...78,986,021
Ensembl chr 5:78,975,678...78,985,990
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
JBrowse link
G C3 complement C3 ISO protein:increased activation:respiratory system fluid/secretion
protein:increased expression:plasma
RGD PMID:3826891, PMID:2784515 RGD:5130153, RGD:5129694 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G C3ar1 complement C3a receptor 1 treatment IMP RGD PMID:16782534 RGD:2303017 NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
JBrowse link
G C5 complement C5 ISO
IDA
protein:increased activation:respiratory system fluid/secretion
associated with Burns (epidermis)
associated with Sepsis;protein:increased activation:plasma
RGD PMID:3826891, PMID:10486240, PMID:3264125 RGD:5130153, RGD:1600658, RGD:5130150 NCBI chr 3:14,049,993...14,113,931
NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
JBrowse link
G C5ar1 complement C5a receptor 1 treatment IMP RGD PMID:16782534 RGD:2303017 NCBI chr 1:78,186,777...78,195,132
Ensembl chr 1:78,186,776...78,195,328
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ces3a carboxylesterase 3a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr19:37,070,705...37,079,411 JBrowse link
G Chpt1 choline phosphotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16292752 NCBI chr 7:29,019,518...29,070,928
Ensembl chr 7:29,043,916...29,070,928
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 IMP RGD PMID:9288136 RGD:2311389 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO RGD PMID:8810593 RGD:4143190 NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
JBrowse link
G Cyb5a cytochrome b5 type A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr18:81,694,818...81,726,821
Ensembl chr18:81,694,808...81,726,821
JBrowse link
G Ebf1 EBF transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr10:23,654,849...24,051,627
Ensembl chr10:23,661,013...24,050,209
JBrowse link
G Edn1 endothelin 1 treatment IEP
ISO
IDA
protein:increased secretion:plasma (rat)
CTD Direct Evidence: marker/mechanism
protein:increased secretion:plasma (human)
CTD PMID:16625121, PMID:1618274, PMID:16741035, PMID:8256914 RGD:4145073, RGD:8662284, RGD:4145079 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Egr1 early growth response 1 ISO protein:increased expression:lung (mouse) RGD PMID:16713977 RGD:5131902 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr12:12,749,026...12,782,078
Ensembl chr12:12,748,785...12,782,146
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:plasma RGD PMID:10528607 RGD:11340213 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Fbln5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr17:9,990,072...10,004,339
Ensembl chr17:9,990,078...10,004,321
JBrowse link
G G8 G8 gene EXP CTD Direct Evidence: marker/mechanism CTD PMID:25070658
G Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr14:38,631,192...39,112,598
Ensembl chr14:38,643,385...39,112,600
JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr15:44,441,856...44,446,064
Ensembl chr15:44,442,555...44,442,875
Ensembl chr15:44,442,555...44,442,875
JBrowse link
G Hmox1 heme oxygenase 1 susceptibility ISO DNA:polymorphism:promoter RGD PMID:19526221 RGD:4145346 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hspa4 heat shock protein family A (Hsp70) member 4 IDA RGD PMID:12235111 RGD:5688755 NCBI chr10:38,601,624...38,642,397
Ensembl chr10:38,601,624...38,642,397
JBrowse link
G Icam1 intercellular adhesion molecule 1 severity ISO protein:increased secretion:plasma (human) RGD PMID:19858233 RGD:4145485 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Ifrd1 interferon-related developmental regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 6:60,132,025...60,151,354
Ensembl chr 6:60,132,024...60,151,420
JBrowse link
G Igfbp6 insulin-like growth factor binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 7:143,749,385...143,754,018
Ensembl chr 7:143,749,221...143,754,054
JBrowse link
G Il10 interleukin 10 treatment IEP associated with Sepsis RGD PMID:22037734 RGD:11049486 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il15 interleukin 15 ISO associated with Influenza;protein:increased expression:serum RGD PMID:21062445 RGD:5128683 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
JBrowse link
G Il1b interleukin 1 beta disease_progression ISO protein:increased expression:lung
protein:increased expression:bronchioalveolar lavage fluid (human)
RGD PMID:18065658, PMID:8810593 RGD:4142869, RGD:4143190 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist disease_progression ISO
IDA
RGD PMID:8686976, PMID:22810359, PMID:8810593 RGD:4143191, RGD:6909177, RGD:4143190 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il9 interleukin 9 ISO associated with Influenza;protein:increased expression:serum RGD PMID:21062445 RGD:5128683 NCBI chr17:8,558,827...8,561,950
Ensembl chr17:8,558,827...8,561,950
JBrowse link
G Lcn2 lipocalin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
JBrowse link
G Lct lactase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr13:44,998,414...45,040,593
Ensembl chr13:44,998,414...45,040,593
JBrowse link
G Lep leptin disease_progression ISO respiratory system fluid/secretion RGD PMID:21317313 RGD:5128773 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lim2 lens intrinsic membrane protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 1:98,495,082...98,501,248
Ensembl chr 1:98,495,082...98,501,249
JBrowse link
G Lta lymphotoxin alpha ISO DNA:polymorhpism:blood: RGD PMID:16135717 RGD:4143247 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:missense mutation:exon:p.G54N (human) RGD PMID:17133182 RGD:4889476 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mdh1 malate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr14:106,378,349...106,393,642
Ensembl chr14:106,378,942...106,393,670
JBrowse link
G Mfn1 mitofusin 1 treatment IEP RGD PMID:27830717 RGD:12910765 NCBI chr 2:118,929,738...118,971,689
Ensembl chr 2:118,929,738...118,973,698
JBrowse link
G Mir126b microRNA 126b ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 3:4,042,488...4,042,560 JBrowse link
G Mir127 microRNA 127 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 6:133,713,430...133,713,526
Ensembl chr 6:133,713,430...133,713,526
JBrowse link
G Mir128-2 microRNA 128-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 8:120,378,945...120,379,028
Ensembl chr 8:120,378,945...120,379,028
JBrowse link
G Mir135b microRNA 135b ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr13:48,976,986...48,977,082
Ensembl chr13:48,976,986...48,977,082
JBrowse link
G Mir155 microRNA 155 ISO associated with sepsis;miRNA:increased expression:lung RGD PMID:28125526 RGD:24922218 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
JBrowse link
G Mir18a microRNA 18a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr15:100,180,015...100,180,110
Ensembl chr15:100,180,015...100,180,110
JBrowse link
G Mir19a microRNA 19a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr15:100,180,162...100,180,243
Ensembl chr15:100,180,162...100,180,243
JBrowse link
G Mir210 microRNA 210 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 1:214,208,355...214,208,464 JBrowse link
G Mir223 microRNA 223 ISO RNA:increased expression:Bronchoalveolar lavage RGD PMID:28931657 RGD:21408568 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Mir26a microRNA 26a EXP CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 8:127,714,441...127,714,530
Ensembl chr 8:127,714,441...127,714,530
JBrowse link
G Mir30a microRNA 30a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 9:29,542,635...29,542,705
Ensembl chr 9:29,542,635...29,542,705
JBrowse link
G Mir30b microRNA 30b ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 7:109,282,662...109,282,747
Ensembl chr 7:109,282,658...109,282,752
JBrowse link
G Mir337 microRNA 337 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 6:133,705,920...133,706,016
Ensembl chr 6:133,705,920...133,706,016
JBrowse link
G Mir344-1 microRNA 344-1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25070658
G Mir346 microRNA 346 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr16:11,250,054...11,250,151
Ensembl chr16:11,250,054...11,250,151
JBrowse link
G Mir349 microRNA 349 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 7:130,146,518...130,146,614
Ensembl chr 7:130,146,518...130,146,614
JBrowse link
G Mir99a microRNA 99a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr11:16,052,153...16,052,233
Ensembl chr11:16,052,153...16,052,233
JBrowse link
G Mirlet7b microRNA let-7b ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 7:126,590,627...126,590,711
Ensembl chr 7:126,590,627...126,590,711
JBrowse link
G Mirlet7d microRNA let-7d ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr17:16,419,980...16,420,077
Ensembl chr17:16,419,980...16,420,077
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:lung RGD PMID:21211006 RGD:5129208 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mt2A metallothionein 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
JBrowse link
G Mt3 metallothionein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
JBrowse link
G Muc1 mucin 1, cell surface associated ISO associated with critical illness; protein:increased expression:plasma RGD PMID:16779848 RGD:5131171 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Mylk myosin light chain kinase ISO RGD PMID:18766098 RGD:4891491 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
G Nppb natriuretic peptide B ISO associated with Ventilator-Induced Lung Injury;protein:increased expression:serum: RGD PMID:23837838 RGD:7247620 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO RGD PMID:19741160 RGD:5683903 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Pdpn podoplanin IEP RGD PMID:11790662 RGD:2292244 NCBI chr 5:161,947,137...161,981,441
Ensembl chr 5:161,947,137...161,981,441
JBrowse link
G Pla2g2a phospholipase A2 group IIA ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:22173044 RGD:6482717 NCBI chr 5:157,282,650...157,285,295
Ensembl chr 5:157,282,669...157,285,328
JBrowse link
G Pla2g4a phospholipase A2 group IVA ISO CTD Direct Evidence: marker/mechanism CTD PMID:10881173 NCBI chr13:67,062,252...67,206,688
Ensembl chr13:66,988,937...67,206,693
JBrowse link
G Plau plasminogen activator, urokinase ISO RGD PMID:17994220 RGD:4892109 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Prdx6 peroxiredoxin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr13:79,077,567...79,088,113
Ensembl chr13:79,077,033...79,088,127
JBrowse link
G Pros1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
JBrowse link
G Psma4 proteasome 20S subunit alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 8:59,532,456...59,539,916
Ensembl chr 8:59,532,389...59,539,920
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:22363101 RGD:6483444 NCBI chr20:3,973,424...3,978,845
Ensembl chr20:3,973,420...3,978,845
JBrowse link
G Ramp2 receptor activity modifying protein 2 IEP
ISO
mRNA:decreased expression:lung
CTD Direct Evidence: marker/mechanism
CTD PMID:25070658, PMID:17068622 RGD:1642683 NCBI chr10:89,166,170...89,168,962
Ensembl chr10:89,166,890...89,168,965
JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 2:189,997,278...189,999,587
Ensembl chr 2:189,997,129...189,999,604
JBrowse link
G S100a9 S100 calcium binding protein A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 2:190,097,436...190,100,209
Ensembl chr 2:190,097,554...190,100,276
JBrowse link
G Septin5 septin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr11:86,516,377...86,522,169
Ensembl chr11:86,512,797...86,522,168
JBrowse link
G Serpina3m serpin family A member 3M ISO protein:increased expression:serum RGD PMID:2432615 RGD:5147458 NCBI chr 6:127,808,785...127,816,067
Ensembl chr 6:127,808,785...127,816,055
JBrowse link
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N IMP
ISO
associated with pancreatitis
protein:increased expression:serum
RGD PMID:8574716, PMID:2432615 RGD:5147448, RGD:5147458 NCBI chr 6:128,073,344...128,080,878
Ensembl chr 6:127,941,526...128,080,889
JBrowse link
G Serpinc1 serpin family C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8810955 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma
associated with Pneumonia, aspiration; protein:increased expression:Bronchoalveolar Lavage Fluid
RGD PMID:17667242, PMID:16284739 RGD:4144037, RGD:4144039 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinh1 serpin family H member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 1:164,301,010...164,308,306
Ensembl chr 1:164,301,010...164,308,317
JBrowse link
G Sftpa1 surfactant protein A1 ISO protein:decreased expression:lung
protein:increased expression:serum
RGD PMID:17662121, PMID:10588595 RGD:4143379, RGD:4143436 NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Sftpb surfactant protein B susceptibility ISO protein:increased expression:plasma
protein:decreased expression:lung
associated with Pneumonia;DNA:polymorphism: :1580C>T (human)
associated with Lung Injury;DNA:polymorphism:intron (human)
RGD PMID:9351625, PMID:17662121, PMID:15190959, PMID:14718442 RGD:4143447, RGD:4143379, RGD:4143404, RGD:4143408 NCBI chr 4:100,166,855...100,175,941
Ensembl chr 4:100,166,863...100,175,938
JBrowse link
G Sftpc surfactant protein C ISO protein:decreased expression:lung RGD PMID:17662121, PMID:9720777 RGD:4143379, RGD:4144159 NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
JBrowse link
G Sftpd surfactant protein D ISO protein:increased expression:serum RGD PMID:10588595 RGD:4143436 NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr10:57,265,903...57,268,018
Ensembl chr10:57,265,704...57,268,081
JBrowse link
G Sod2 superoxide dismutase 2 IEP
ISO
mRNA:increased expression:lung
CTD Direct Evidence: marker/mechanism
CTD PMID:25070658, PMID:25070658 RGD:11035305 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tbxa2r thromboxane A2 receptor treatment IMP RGD PMID:1934328 RGD:11059533 NCBI chr 7:11,253,153...11,259,233
Ensembl chr 7:11,253,180...11,257,977
JBrowse link
G Thbd thrombomodulin IEP
ISO
protein:decreased expression:lung
CTD Direct Evidence: marker/mechanism
CTD PMID:12707536, PMID:12707536 RGD:1601651 NCBI chr 3:142,748,673...142,752,325
Ensembl chr 3:142,748,674...142,752,325
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tlr3 toll-like receptor 3 ISO RGD PMID:18849495 RGD:5129134 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tlr5 toll-like receptor 5 ISO mRNA:decreased expression:lung (mouse) RGD PMID:12763043 RGD:5129557 NCBI chr13:101,364,784...101,385,764
Ensembl chr13:101,381,510...101,385,764
JBrowse link
G Tlr9 toll-like receptor 9 ISO RGD PMID:17925007 RGD:5130709 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum
associated lung injury; DNA:polymorphism:promoter:
RGD PMID:21062445, PMID:16135717 RGD:5128683, RGD:4143247 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 severity ISO protein:increased expression:lung (mouse)
protein:increased expression:plasma (human)
RGD PMID:21512145, PMID:21070800, PMID:21283009 RGD:5131206, RGD:5131145, RGD:5131096 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B severity ISO protein:increased expression:lung (mouse)
human protein in rat model
RGD PMID:21512145, PMID:19916860, PMID:11159038 RGD:5131206, RGD:5131423, RGD:5131147 NCBI chr 5:163,136,390...163,167,299
Ensembl chr 5:163,136,390...163,167,299
JBrowse link
G Tspan8 tetraspanin 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25070658 NCBI chr 7:58,814,805...58,847,564
Ensembl chr 7:58,814,805...58,847,563
JBrowse link
Airway Obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase1 deoxyribonuclease 1 ISO CTD Direct Evidence: therapeutic CTD PMID:28780505 NCBI chr10:11,757,681...11,760,672
Ensembl chr10:11,757,682...11,760,620
JBrowse link
G Gstp1 glutathione S-transferase pi 1 severity ISO associated with Bronchial Hyperreactivity;DNA:polymorphism:exon:p.I105V (rs1695) (human) RGD PMID:10919500 RGD:4142525 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Il10 interleukin 10 susceptibility ISO DNA:SNPs (human) RGD PMID:17690329 RGD:4142510 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il9 interleukin 9 ISO associated with Bronchitis, Chronic;mRNA:increased expression:respiratory system fluid/secretion, T cell RGD PMID:14605067 RGD:5128696 NCBI chr17:8,558,827...8,561,950
Ensembl chr17:8,558,827...8,561,950
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO associated with Asthma; DNA:insertion:promoter:g.-1607insG (human) RGD PMID:19191136 RGD:4890372 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:25331496 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Ptgfr prostaglandin F receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:1219628 NCBI chr 2:257,005,813...257,039,036
Ensembl chr 2:257,005,829...257,038,105
JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO CTD Direct Evidence: therapeutic CTD PMID:23727623, PMID:23727623 RGD:11062088 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
Altitude Sickness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO mRNA, protein:increased expression:bone marrow, mononuclear cell RGD PMID:18078130 RGD:10450750 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Hmox1 heme oxygenase 1 IEP RGD PMID:23537263 RGD:10755714 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
Apnea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:38703, PMID:726855, PMID:900467, PMID:987736, PMID:1058931, PMID:1734774, PMID:4319258, PMID:4347326, PMID:4698763, PMID:4728581, PMID:4746059, PMID:4850696, PMID:4959505, PMID:4998912, PMID:5365519, PMID:5412891, PMID:5488351, PMID:5667302, PMID:6039104, PMID:6465587, PMID:6859614, PMID:6928942, PMID:7069741, PMID:7378868, PMID:7788839, PMID:7793179, PMID:12392308, PMID:12881446, PMID:15826794, PMID:21029050, PMID:25054547 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II beta ISO ClinVar Annotator: match by term: Apnea ClinVar PMID:11994750, PMID:25741868, PMID:29100083, PMID:29100089, PMID:32581362 NCBI chr14:86,208,876...86,297,727
Ensembl chr14:86,208,901...86,297,652
JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A ISO CTD Direct Evidence: therapeutic CTD PMID:10640309 NCBI chr 2:36,246,628...36,247,896
Ensembl chr 2:36,246,628...36,247,896
JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Apnea ClinVar PMID:25741868 NCBI chr18:29,104,712...29,114,918
Ensembl chr18:29,110,242...29,111,156
JBrowse link
G Slc6a5 solute carrier family 6 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25480793 NCBI chr 1:105,270,418...105,336,369
Ensembl chr 1:105,284,753...105,336,363
JBrowse link
asphyxiating thoracic dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4
ClinVar Annotator: match by OMIM:613819
OMIM
ClinVar
PMID:18414213, PMID:21258341, PMID:22773737, PMID:24033266, PMID:24876116, PMID:25492405, PMID:25741868, PMID:26940125, PMID:28492532, PMID:29068549 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
JBrowse link
asphyxiating thoracic dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5
ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
ClinVar Annotator: match by OMIM:614376
OMIM
ClinVar
PMID:19430947, PMID:22019273, PMID:23559409, PMID:23683095, PMID:25726036, PMID:25741868, PMID:26260382, PMID:26275793, PMID:26489029, PMID:27241786, PMID:27596865, PMID:28492532, PMID:28621010, PMID:28973083, PMID:29068549, PMID:30266093, PMID:31837199, PMID:32165824 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
Asrar Facharzt Haque Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome ClinVar PMID:29751792 NCBI chr20:30,289,527...30,327,343
Ensembl chr20:30,287,424...30,327,361
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO protein:increased degradation:skeletal muscle RGD PMID:15833425 RGD:11073211 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
JBrowse link
G Sgca sarcoglycan, alpha treatment ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D
ClinVar Annotator: match by term: Duchenne-like autosomal recessive muscular dystrophy, type 2
ClinVar Annotator: match by term: Sarcoglycanopathy
ClinVar Annotator: match by term: Sarcoglycanopathies
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2D
ClinVar Annotator: match by OMIM:608099
OMIM
ClinVar
PMID:7657792, PMID:7663524, PMID:7668821, PMID:8069911, PMID:8528203, PMID:8866424, PMID:9032047, PMID:9153448, PMID:9192266, PMID:9266733, PMID:9455986, PMID:9585331, PMID:10842281, PMID:10942431, PMID:10993494, PMID:11121445, PMID:11475588, PMID:11693784, PMID:12075495, PMID:12566530, PMID:12746421, PMID:14595658, PMID:15298081, PMID:15736300, PMID:15833425, PMID:16616845, PMID:16778590, PMID:16787395, PMID:17562833, PMID:17994539, PMID:18252745, PMID:18285821, PMID:18414213, PMID:18421900, PMID:18535179, PMID:18996010, PMID:19781108, PMID:19798725, PMID:21031578, PMID:21856579, PMID:22095924, PMID:22303798, PMID:24033266, PMID:24464767, PMID:24565866, PMID:24742800, PMID:25046369, PMID:25135358, PMID:25214167, PMID:25741868, PMID:26404900, PMID:26453141, PMID:26467025, PMID:26916285, PMID:26934379, PMID:26944168, PMID:27066551, PMID:27120200, PMID:27363342, PMID:28403181, PMID:28492532, PMID:29351619, PMID:30107846, PMID:30311386, PMID:30703231, PMID:30764848, PMID:17653106 RGD:13605612 NCBI chr10:82,770,905...82,785,142
Ensembl chr10:82,770,905...82,785,142
JBrowse link
G Sgcg sarcoglycan, gamma ISO ClinVar Annotator: match by term: Sarcoglycanopathy ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr15:41,549,330...41,595,275
Ensembl chr15:41,549,331...41,595,345
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: ADHALINOPATHY, PRIMARY ClinVar PMID:18414213, PMID:18728072, PMID:20466733, PMID:25741868, PMID:30744660 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
JBrowse link
Brain-Lung-Thyroid Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkx2-1 NK2 homeobox 1 ISO ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
DNA:missense mutation exon:p.L224R (c.671T>G) (human)
DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human)
DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human)
DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)
ClinVar Annotator: match by OMIM:610978
OMIM
ClinVar
PMID:11854318, PMID:11854319, PMID:12891678, PMID:15289765, PMID:15955952, PMID:17220277, PMID:18788921, PMID:19176457, PMID:19336474, PMID:24555207, PMID:25326635, PMID:25741868, PMID:28492532, PMID:29538355, PMID:26839702, PMID:18788921, PMID:23379327, PMID:23911641 RGD:12914770, RGD:11073166, RGD:12914769, RGD:12914768 NCBI chr 6:77,418,096...77,423,383
Ensembl chr 6:77,418,096...77,421,286
JBrowse link
Butyrylcholinesterase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO ClinVar Annotator: match by term: Deficiency of butyrylcholine esterase
ClinVar Annotator: match by term: Postanesthetic apnea
ClinVar Annotator: match by term: Suxamethonium sensitivity
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:416211, PMID:1349196, PMID:1415224, PMID:1611188, PMID:1662391, PMID:2013061, PMID:2253336, PMID:2915989, PMID:3542989, PMID:6716425, PMID:7618741, PMID:7634491, PMID:8314794, PMID:8554068, PMID:8601326, PMID:8680411, PMID:9047329, PMID:9058093, PMID:9110359, PMID:9187502, PMID:9191541, PMID:9302273, PMID:9388484, PMID:9543549, PMID:10190327, PMID:10404729, PMID:10446378, PMID:10699053, PMID:11163024, PMID:11575530, PMID:11733654, PMID:12417112, PMID:12724618, PMID:12881446, PMID:13437188, PMID:13479831, PMID:13711731, PMID:14404182, PMID:15563885, PMID:15731589, PMID:15781196, PMID:16434405, PMID:16788378, PMID:17166756, PMID:17700357, PMID:18075469, PMID:18165570, PMID:18300943, PMID:18555211, PMID:20879632, PMID:21029050, PMID:21228368, PMID:21637541, PMID:22053728, PMID:22378569, PMID:22750491, PMID:23123771, PMID:24033266, PMID:25054547, PMID:25264279, PMID:25448037, PMID:25525159, PMID:25741868, PMID:27109752, PMID:27551784, PMID:28492532, PMID:2915989 RGD:734636 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Deficiency of butyrylcholine esterase ClinVar PMID:25741868 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
central sleep apnea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Central sleep apnea syndrome ClinVar PMID:15701560, PMID:25741868, PMID:28492532 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Central apnea ClinVar PMID:10369261, PMID:10369262, PMID:11313769, PMID:12444096, PMID:12634869, PMID:15536479, PMID:21228398, PMID:22038276, PMID:23692791, PMID:23979089, PMID:24033266, PMID:24088041, PMID:24177804, PMID:24233262, PMID:24360083, PMID:24470648, PMID:24561416, PMID:25708585, PMID:25741868, PMID:25866490, PMID:26633545, PMID:26977311, PMID:28492532, PMID:30311386 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
G Nos3 nitric oxide synthase 3 ISO associated with heart failure; protein:decreased expression:serum RGD PMID:16806535 RGD:4892059 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Central apnea ClinVar PMID:28492532, PMID:30311386 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Tac1 tachykinin, precursor 1 IMP RGD PMID:18420958 RGD:2304275 NCBI chr 4:33,638,853...33,646,819
Ensembl chr 4:33,638,709...33,646,819
JBrowse link
G Tacr1 tachykinin receptor 1 IMP RGD PMID:18420958 RGD:2304275 NCBI chr 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504
JBrowse link
CHITAYAT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: CHITAYAT SYNDROME ClinVar
OMIM
PMID:8418638, PMID:27738187 NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
JBrowse link
congenital central hypoventilation syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ascl1 achaete-scute family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Congenital central hypoventilation
ClinVar Annotator: match by OMIM:209880
OMIM
ClinVar
PMID:14532329 NCBI chr 7:28,038,662...28,040,504
Ensembl chr 7:28,038,662...28,040,510
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:11840487, PMID:25741868, PMID:11840487 RGD:734643 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: Congenital central hypoventilation
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8696331, PMID:19556619, PMID:24033266, PMID:28492532 NCBI chr 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital Ondine curse
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8896568, PMID:8896569, PMID:9215674, PMID:9497256, PMID:11565554, PMID:11823451, PMID:12640453, PMID:19184120, PMID:22729463, PMID:24033266 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Congenital central hypoventilation
DNA:duplication: :c.691_698dup (human)
DNA:repeats
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12640453, PMID:14566559, PMID:14608649, PMID:14709596, PMID:15024693, PMID:15121777, PMID:15334515, PMID:15338462, PMID:16763219, PMID:16830328, PMID:16888290, PMID:17637745, PMID:17765533, PMID:18079495, PMID:19011468, PMID:20208042, PMID:20301600, PMID:24033266, PMID:24728327, PMID:25326635, PMID:25741868, PMID:26063465, PMID:28492532, PMID:29098737, PMID:29543228, PMID:30672101, PMID:24799442, PMID:19201717 RGD:11058834, RGD:12910557 NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Congenital central hypoventilation
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3078962, PMID:7824936, PMID:7835899, PMID:7907913, PMID:7915165, PMID:8099202, PMID:8626834, PMID:8640806, PMID:8797874, PMID:8896569, PMID:9067749, PMID:9090527, PMID:9174404, PMID:9230192, PMID:9452077, PMID:9497256, PMID:9498388, PMID:9502784, PMID:9839497, PMID:9868860, PMID:9879991, PMID:10049754, PMID:10090908, PMID:10618407, PMID:10826520, PMID:10876191, PMID:10921886, PMID:11114642, PMID:11238493, PMID:11732489, PMID:12019403, PMID:12086152, PMID:12410354, PMID:12566528, PMID:12640453, PMID:14557476, PMID:14633923, PMID:15184865, PMID:15386323, PMID:15741265, PMID:15858153, PMID:16118333, PMID:16325365, PMID:16532227, PMID:16839264, PMID:16849421, PMID:17108762, PMID:17316110, PMID:17384210, PMID:17466010, PMID:17590169, PMID:17605401, PMID:17704047, PMID:17895320, PMID:18058472, PMID:18062802, PMID:18063059, PMID:19445625, PMID:19958926, PMID:20013610, PMID:20039896, PMID:20041006, PMID:20369307, PMID:20456320, PMID:20473317, PMID:20497437, PMID:20516206, PMID:20532249, PMID:20979234, PMID:21134561, PMID:21479187, PMID:21711375, PMID:21810974, PMID:21995290, PMID:22174939, PMID:22274720, PMID:22584709, PMID:22648184, PMID:22703879, PMID:22729463, PMID:22837065, PMID:23084198, PMID:23259706, PMID:23341727, PMID:23468374, PMID:24033266, PMID:24055113, PMID:24134185, PMID:24336963, PMID:24361808, PMID:24617864, PMID:24728327, PMID:25425582, PMID:25440022, PMID:25501606, PMID:25637381, PMID:25741868, PMID:25759805, PMID:25810047, PMID:26034076, PMID:26071011, PMID:26559152, PMID:26580448, PMID:26845104, PMID:28125075, PMID:28492532, PMID:28946813, PMID:29625052 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G Tlx3 T-cell leukemia, homeobox 3 ISS OMIM:209880 MouseDO NCBI chr10:18,128,869...18,131,745
Ensembl chr10:18,129,408...18,131,562
JBrowse link
congenital myasthenic syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chat choline O-acetyltransferase susceptibility ISO DNA:frameshift mutation, missense mutations (human)
ClinVar Annotator: match by term: Familial infantile myasthenia
ClinVar Annotator: match by OMIM:254210
ClinVar
OMIM
PMID:7616604, PMID:11172068, PMID:12756141, PMID:15381704, PMID:15701560, PMID:18414213, PMID:19520274, PMID:19900826, PMID:21786365, PMID:21948486, PMID:24033266, PMID:25741868, PMID:26080897, PMID:26467025, PMID:26789281, PMID:28492532, PMID:28497657, PMID:29189923, PMID:11172068 RGD:1600831 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar NCBI chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529
JBrowse link
cortical dysplasia-focal epilepsy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1
ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome
ClinVar Annotator: match by term: PITT-HOPKINS-LIKE SYNDROME 1
OMIM
ClinVar
PMID:6564677, PMID:11568923, PMID:16571880, PMID:18179895, PMID:18414213, PMID:19302947, PMID:19896112, PMID:20711234, PMID:21827697, PMID:22031302, PMID:22872700, PMID:23714751, PMID:24083349, PMID:24807205, PMID:25167861, PMID:25621974, PMID:25741868, PMID:26467025, PMID:26843181, PMID:27066544, PMID:27439707, PMID:27621318, PMID:27734276, PMID:27747449, PMID:28440294, PMID:28492532, PMID:29358611, PMID:29788201, PMID:32860008 NCBI chr 4:74,700,539...77,025,463 JBrowse link
G Cul1 cullin 1 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 ClinVar PMID:16571880, PMID:22872700, PMID:28492532 NCBI chr 4:77,211,814...77,283,369
Ensembl chr 4:77,211,692...77,280,250
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 ClinVar PMID:16571880, PMID:22872700, PMID:28492532 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G Tpk1 thiamin pyrophosphokinase 1 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 ClinVar PMID:27439707 NCBI chr 4:72,792,252...73,174,179
Ensembl chr 4:72,792,252...73,174,179
JBrowse link
Cough term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:12848919, PMID:15498266, PMID:20364557 RGD:4140914 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Bdkrb2 bradykinin receptor B2 no_association ISO DNA:SNP: :rs8012552 (human)
DNA:SNPs (human)
DNA:SNP:promoter:-58T>C (human)
RGD PMID:21052031, PMID:19744011, PMID:12522467, PMID:11699055, PMID:10904024 RGD:4891026, RGD:4891027, RGD:4891031, RGD:4891032, RGD:4891034 NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
JBrowse link
G Ccdc65 coiled-coil domain containing 65 ISO ClinVar Annotator: match by term: Cough ClinVar PMID:25741868, PMID:28492532 NCBI chr 7:140,383,395...140,397,186
Ensembl chr 7:140,383,397...140,397,179
JBrowse link
G Clasp1 cytoplasmic linker associated protein 1 susceptibility ISO associated with Drug-Related Side Effects and Adverse Reactions;; DNA:SNPs:multiple: RGD PMID:28084903 RGD:27226683 NCBI chr13:34,365,038...34,584,651
Ensembl chr13:34,365,147...34,584,651
JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO RGD PMID:9525446 RGD:10449525 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISO ClinVar Annotator: match by term: Cough ClinVar PMID:25741868, PMID:28492532 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 Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Cough ClinVar PMID:25741868, PMID:28492532, PMID:29068549 NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO RGD PMID:18447907 RGD:4140948 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Il5 interleukin 5 treatment ISO RGD PMID:9525446 RGD:10449525 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
JBrowse link
G Kng2 kininogen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22693178 NCBI chr11:81,509,185...81,516,759 JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Cough ClinVar PMID:25741868, PMID:28089114, PMID:28492532 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:20696045 RGD:5135513 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Sftpa1 surfactant protein A1 susceptibility ISO DNA:SNPs, haplotypes:cds:multiple (human) RGD PMID:17407567 RGD:4144873 NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Tacr2 tachykinin receptor 2 susceptibility ISO DNA:SNP:cds:p.G231E (human) RGD PMID:19583679 RGD:5147627 NCBI chr20:31,892,515...31,905,153
Ensembl chr20:31,892,515...31,905,153
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:decreased expression:sputum, macrophage RGD PMID:21426732 RGD:7240539 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:sputum RGD PMID:10325899 RGD:4143478 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Trpa1 transient receptor potential cation channel, subfamily A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27545873 NCBI chr 5:3,783,247...3,836,485
Ensembl chr 5:3,783,247...3,836,485
JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27545873 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
JBrowse link
distal spinal muscular atrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1
ClinVar Annotator: match by OMIM:604320
ClinVar
OMIM
PMID:234316, PMID:1461881, PMID:11528396, PMID:14506069, PMID:14681881, PMID:15108294, PMID:15248100, PMID:15503272, PMID:15599641, PMID:15797190, PMID:16765827, PMID:16964485, PMID:17431882, PMID:18802676, PMID:19157874, PMID:19158098, PMID:20031928, PMID:21353777, PMID:21902652, PMID:22157136, PMID:22791546, PMID:23449687, PMID:23566544, PMID:23806086, PMID:23929295, PMID:24022109, PMID:24033266, PMID:24088041, PMID:24388491, PMID:24922459, PMID:25326635, PMID:25439726, PMID:25454169, PMID:25568292, PMID:25741868, PMID:26136520, PMID:26257172, PMID:26298607, PMID:26392352, PMID:26467025, PMID:26709713, PMID:26922252, PMID:27450922, PMID:28065684, PMID:28202949, PMID:28251916, PMID:28397221, PMID:28492532, PMID:28902413, PMID:29858556, PMID:30311386, PMID:30598237, PMID:32488064, PMID:11528396 RGD:737748 NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
JBrowse link
Dyspnea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cysltr1 cysteinyl leukotriene receptor 1 IMP RGD PMID:2825489 RGD:4888515 NCBI chr  X:77,671,028...77,700,491
Ensembl chr  X:77,674,150...77,700,269
JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Shortness of breath ClinVar PMID:24033266, PMID:24503780, PMID:25741868, PMID:26265630, PMID:26724190, PMID:28341588, PMID:28492532 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Edn1 endothelin 1 ISO protein:increased secretion:urine (human) RGD PMID:18831711 RGD:4145071 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G F5 coagulation factor V ISO RGD PMID:16186475 RGD:4892656 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 disease_progression ISO RGD PMID:20804518 RGD:5144224 NCBI chr 9:47,133,483...47,184,316
Ensembl chr 9:47,134,034...47,182,170
JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Dyspnea ClinVar PMID:2943217, PMID:19574547, PMID:20433692, PMID:20800588, PMID:23283745, PMID:24033266, PMID:25741868, PMID:28492532, PMID:28679633, PMID:30645170 NCBI chr 3:79,940,509...79,958,731
Ensembl chr 3:79,940,561...79,958,730
JBrowse link
G Nppb natriuretic peptide B ISO CTD Direct Evidence: therapeutic CTD PMID:20339970 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Shortness of breath ClinVar PMID:25741868, PMID:30311386 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
JBrowse link
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Shortness of breath ClinVar PMID:32004447 NCBI chr 6:76,386,971...76,661,530
Ensembl chr 6:76,396,784...76,608,864
JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Shortness of breath ClinVar NCBI chr13:51,569,248...51,577,824
Ensembl chr13:51,534,025...51,578,052
JBrowse link
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Megf10 multiple EGF-like domains 10 ISO ClinVar Annotator: match by term: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
ClinVar Annotator: match by term: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant
ClinVar Annotator: match by OMIM:614399
ClinVar Annotator: match by synonym: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant
OMIM
ClinVar
PMID:17236770, PMID:22101682, PMID:22371254, PMID:23453856, PMID:23954233, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26802438, PMID:28492532, PMID:28498977 NCBI chr18:52,215,652...52,366,212
Ensembl chr18:52,215,682...52,366,238
JBrowse link
Hyaline Membrane Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpine1 serpin family E member 1 ISO RGD PMID:8981909 RGD:4144850 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Sftpa1 surfactant protein A1 ISO ClinVar Annotator: match by term: Respiratory distress associated with prematurity ClinVar PMID:24033266, PMID:25741868 NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Sftpc surfactant protein C ISO RGD PMID:9655740 RGD:4143444 NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
JBrowse link
Hyperventilation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21115475 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II beta ISO ClinVar Annotator: match by term: Hyperventilation ClinVar PMID:11994750, PMID:25741868, PMID:29100083, PMID:29100089, PMID:32581362 NCBI chr14:86,208,876...86,297,727
Ensembl chr14:86,208,901...86,297,652
JBrowse link
G Vav3 vav guanine nucleotide exchange factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21115475 NCBI chr 2:212,247,061...212,585,818
Ensembl chr 2:212,247,451...212,585,818
JBrowse link
Hypoventilation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl5 C-C motif chemokine ligand 5 ISO associated with Obesity; protein:increased secretion:serum (human) RGD PMID:19701463 RGD:4892041 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Dctn1 dynactin subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19136952 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
JBrowse link
G Lep leptin ISO Obesity Hypoventilation Syndrome RGD PMID:16179823 RGD:5128870 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Phox2b paired-like homeobox 2b ISO RGD PMID:14566559, PMID:12640453 RGD:1599147, RGD:1599148 NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
JBrowse link
Kniest dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Kniest dysplasia
ClinVar Annotator: match by OMIM:156550
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:4014370, PMID:4214536, PMID:7752132, PMID:7849719, PMID:7874117, PMID:7981752, PMID:8325895, PMID:9066888, PMID:9101290, PMID:9468540, PMID:10406661, PMID:11297324, PMID:12995812, PMID:23188137, PMID:25741868, PMID:28492532 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
Kniest Like Dysplasia Lethal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:11279527, PMID:24088041, PMID:24781210, PMID:25504735, PMID:25741868, PMID:25803036, PMID:26467025, PMID:26508570, PMID:26633545, PMID:28242392, PMID:28492532, PMID:29271572, PMID:29901129, PMID:30311386 NCBI chr 5:155,812,096...155,913,751 JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: Lethal Kniest-like syndrome ClinVar PMID:25504735, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 5:155,914,517...155,922,269
Ensembl chr 5:155,914,735...155,916,893
JBrowse link
lipoid proteinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Lipid proteinosis
ClinVar Annotator: match by OMIM:247100
ClinVar
OMIM
PMID:11929856, PMID:12472532, PMID:12603844, PMID:16172042, PMID:17063986, PMID:17199583, PMID:17927570, PMID:24708644, PMID:25529926, PMID:25741868, PMID:11929856 RGD:734912 NCBI chr 2:197,855,468...197,860,973
Ensembl chr 2:197,855,460...197,860,699
JBrowse link
meconium aspiration syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen IEP mRNA:increased expression:lung RGD PMID:14605247 RGD:11039054 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr2 angiotensin II receptor, type 2 treatment IMP RGD PMID:14605247 RGD:11039054 NCBI chr  X:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842
JBrowse link
G Atf2 activating transcription factor 2 ISS MouseDO NCBI chr 3:60,721,137...60,795,951
Ensembl chr 3:60,721,135...60,795,951
JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO protein:increased expression:broncho-alveolar lavage fluid, meconium RGD PMID:21567110 RGD:5144123 NCBI chr 1:225,279,698...225,283,246
Ensembl chr 1:225,279,676...225,283,326
JBrowse link
myofibrillar myopathy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttn titin ISO ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure
ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure
ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT
ClinVar
OMIM
PMID:1745277, PMID:10053013, PMID:10462489, PMID:11310621, PMID:11717165, PMID:12145747, PMID:12669942, PMID:15802564, PMID:16084088, PMID:17344846, PMID:17444505, PMID:18414213, PMID:18948003, PMID:19608031, PMID:20890277, PMID:21520333, PMID:21617319, PMID:21810661, PMID:22335739, PMID:22526018, PMID:22577215, PMID:22577218, PMID:22577220, PMID:23299917, PMID:23396983, PMID:23418287, PMID:23478172, PMID:23486992, PMID:23514108, PMID:23518707, PMID:23606733, PMID:23620651, PMID:23675308, PMID:23757202, PMID:23852418, PMID:23861362, PMID:23975875, PMID:23995273, PMID:24033266, PMID:24055113, PMID:24082139, PMID:24105469, PMID:24231549, PMID:24271327, PMID:24315344, PMID:24384345, PMID:24395473, PMID:24440382, PMID:24444549, PMID:24459294, PMID:24503780, PMID:24558114, PMID:24569025, PMID:24575448, PMID:24578547, PMID:24636144, PMID:24892279, PMID:24980681, PMID:25016126, PMID:25145518, PMID:25163546, PMID:25214167, PMID:25253871, PMID:25447171, PMID:25498755, PMID:25500009, PMID:25556389, PMID:25589632, PMID:25626705, PMID:25741868, PMID:25772186, PMID:25783436, PMID:25889363, PMID:25979592, PMID:26269091, PMID:26272908, PMID:26383259, PMID:26467025, PMID:26498160, PMID:26516846, PMID:26518445, PMID:26559152, PMID:26627873, PMID:26701604, PMID:26718681, PMID:26777568, PMID:27066507, PMID:27194543, PMID:27273923, PMID:27585509, PMID:27588451, PMID:27650965, PMID:27788187, PMID:27854218, PMID:27854229, PMID:27868399, PMID:27930701, PMID:28045975, PMID:28166282, PMID:28256728, PMID:28492532, PMID:28578331, PMID:28600387, PMID:28750076, PMID:28771489, PMID:28822653, PMID:28831623, PMID:28857138, PMID:29099038, PMID:29221435, PMID:29361395, PMID:29386531, PMID:29540445, PMID:29970176, PMID:30311386, PMID:30615648, PMID:30924900, PMID:30993396, PMID:31127727 NCBI chr 3:63,565,160...63,837,815 JBrowse link
MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES ClinVar
OMIM
PMID:30770808 NCBI chr 2:120,529,716...120,570,356
Ensembl chr 2:120,512,899...120,570,355
JBrowse link
Nasal Obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npy neuropeptide Y ISO CTD Direct Evidence: therapeutic CTD PMID:9288221 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
newborn respiratory distress syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase susceptibility ISO DNA:haplotype: : RGD PMID:22574884 RGD:8655661 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISS OMIM:267450 MouseDO NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:increased expression:blood cells RGD PMID:18301921 RGD:4145353 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO
IEP
protein:increased expression:lung (mouse)
associated with Reperfusion Injury; mRNA, protein:increased expression:lung (rat)
RGD PMID:20888423, PMID:19837405 RGD:4145440, RGD:4145493 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Mbl2 mannose binding lectin 2 disease_progression ISO RGD PMID:25879044 RGD:12910849 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Megf10 multiple EGF-like domains 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22101682 NCBI chr18:52,215,652...52,366,212
Ensembl chr18:52,215,682...52,366,238
JBrowse link
G Mif macrophage migration inhibitory factor ISO RGD PMID:18097062 RGD:4891007 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISS OMIM:267450 MouseDO NCBI chr18:55,951,497...56,014,107
Ensembl chr18:55,955,389...55,992,885
JBrowse link
G Npsr1 neuropeptide S receptor 1 ISO RGD PMID:16938805 RGD:4891932 NCBI chr 8:25,246,174...25,483,582
Ensembl chr 8:25,246,292...25,482,647
JBrowse link
G Sftpa1 surfactant protein A1 susceptibility ISO
IEP
DNA:missense mutations, haplotype:cds:p.L50V, p.R219W (human)
protein:increased expression:lung
RGD PMID:11063734, PMID:11504697 RGD:4143433, RGD:4143428 NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Sftpb surfactant protein B susceptibility ISO
IEP
DNA:polymorphism:intron (human)
DNA:polymorphism: :p.T131I (human)
mRNA, protein:decreased expression:lung
RGD PMID:12490037, PMID:7832777, PMID:11063734, PMID:11504697, PMID:12424586, PMID:18353230 RGD:4143416, RGD:4143455, RGD:4143433, RGD:4143428, RGD:4143418, RGD:4143376 NCBI chr 4:100,166,855...100,175,941
Ensembl chr 4:100,166,863...100,175,938
JBrowse link
G Sftpc surfactant protein C IEP
ISO
mRNA, protein:decreased expression:lung
protein:altered processing:amniotic fluid, lung
RGD PMID:11504697, PMID:7537464 RGD:4143428, RGD:4144127 NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
JBrowse link
G Sftpd surfactant protein D susceptibility ISO
IEP
DNA:SNP: :p.A160T (human)
protein:increased expression:lung
RGD PMID:17524024, PMID:11504697 RGD:4143507, RGD:4143428 NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
JBrowse link
G Sod1 superoxide dismutase 1 susceptibility ISO DNA:snp, haplotype:enhancer:g.*1112T>G (rs17880135) (human) RGD PMID:22574884 RGD:8655661 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO CTD Direct Evidence: marker/mechanism CTD PMID:10789933 NCBI chr13:52,662,974...52,680,992
Ensembl chr13:52,662,996...52,680,990
JBrowse link
G Vegfa vascular endothelial growth factor A ISS OMIM:267450 MouseDO NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
obstructive sleep apnea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A IEP mRNA:increased expression:heart left ventricle, liver RGD PMID:19323616 RGD:4890033 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B IEP mRNA:increased expression:heart left ventricle RGD PMID:19323616 RGD:4890033 NCBI chr 4:22,225,123...22,307,577
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Ace angiotensin I converting enzyme severity
susceptibility
ISO
IEP
associated with Hypertension;DNA:polymorphism (human)
mRNA:increased expression:cardiac atrium
RGD PMID:19482546, PMID:24775918, PMID:20182789 RGD:4140917, RGD:11039043, RGD:4140915 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Adora1 adenosine A1 receptor IMP RGD PMID:18787037 RGD:5129100 NCBI chr13:51,042,111...51,076,913
Ensembl chr13:51,042,248...51,076,852
JBrowse link
G Adrb1 adrenoceptor beta 1 susceptibility ISO associated with Hypertension;DNA:polymorphism: :p.R389G (human) RGD PMID:20948559 RGD:4145102 NCBI chr 1:277,537,585...277,538,985
Ensembl chr 1:277,537,585...277,538,985
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO RGD PMID:16061712 RGD:4891119 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:plasma RGD PMID:20855682 RGD:4891459 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 severity ISO mRNA:increased expression:faucial pillar, muscle (human) RGD PMID:20847078 RGD:4891917 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Crp C-reactive protein ISO RGD PMID:21493247 RGD:5131290 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO protein:increased expression:serum RGD PMID:15988615 RGD:4892031 NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
JBrowse link
G Cyba cytochrome b-245 alpha chain severity ISO mRNA, protein:increased expression:sputum, macrophage, neutrophil RGD PMID:20367952 RGD:4266589 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chr  X:77,671,028...77,700,491
Ensembl chr  X:77,674,150...77,700,269
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chr15:54,903,290...54,941,742
Ensembl chr15:54,905,274...54,906,203
JBrowse link
G Edn1 endothelin 1 ISO
IEP
DNA:polymorphism:exon:p.K198N (human)
protein:increased expression:myocardium (rat)
protein:increased secretion:plasma (human)
RGD PMID:18580062, PMID:19358946, PMID:17198911 RGD:4145075, RGD:4145067, RGD:4144901 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Ednra endothelin receptor type A IEP
ISO
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :-231G>A (human)
CTD PMID:20083432, PMID:19358946, PMID:20083432 RGD:4145067, RGD:4892306 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Obstructive sleep apnea syndrome ClinVar PMID:30311386 NCBI chr 3:1,966,974...2,123,858
Ensembl chr 3:1,960,957...2,123,820
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Obstructive sleep apnea syndrome ClinVar PMID:7607643, PMID:7719345, PMID:7987400, PMID:8650126, PMID:8755573, PMID:10851026, PMID:15316116, PMID:20133659, PMID:22558232, PMID:24127277, PMID:25271085, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Ghrh growth hormone releasing hormone treatment ISO protein:decreased expression:plasma (human) RGD PMID:16750036, PMID:23815362 RGD:5687742, RGD:10401240 NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide IEP protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
JBrowse link
G Ghsr growth hormone secretagogue receptor IEP protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
JBrowse link
G Hcrt hypocretin neuropeptide precursor ISO RGD PMID:15627867 RGD:1600936 NCBI chr10:88,669,216...88,670,430
Ensembl chr10:88,669,214...88,670,430
JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:17511582 RGD:4145404 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hp haptoglobin ISO RGD PMID:19566894 RGD:5147384 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased secretion:plasma (human) RGD PMID:20004360 RGD:4145463 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Il10 interleukin 10 IEP RGD PMID:22143914 RGD:11049492 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il1b interleukin 1 beta ISO
IEP
protein:decreased expression:serum
protein:increased expression:plasma (rat)
RGD PMID:20040038, PMID:19342292 RGD:4142829, RGD:4142845 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum RGD PMID:20668869 RGD:4143251 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by term: Obstructive sleep apnea syndrome ClinVar PMID:9499428, PMID:15690368, PMID:15690370, PMID:17178841, PMID:18434530, PMID:19330029, PMID:21280141, PMID:21658225, PMID:21671394, PMID:22192413, PMID:22197486, PMID:23076834, PMID:23354975, PMID:23913813, PMID:24527667, PMID:24664873, PMID:27302555, PMID:30311386 NCBI chr  X:4,805,493...4,945,788
Ensembl chr  X:4,806,277...4,945,944
JBrowse link
G Lep leptin ISO protein:increased expression:plasma RGD PMID:18606530 RGD:5128817 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphism:exon:p.Q223R (human) RGD PMID:18204169 RGD:5128855 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO protein:increased expression:palatopharyngeal muscle RGD PMID:20836084, PMID:19652426 RGD:5129212, RGD:5130877 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:plasma RGD PMID:19336590 RGD:5131166 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Ngf nerve growth factor ISO RGD PMID:17667845 RGD:5144120 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Nos2 nitric oxide synthase 2 severity ISO protein:decreased expression, decreased phosphorylation:endothelial cell
associated with obesity; protein:increased expression:sputum
RGD PMID:18413499, PMID:18098375 RGD:4891909, RGD:4891935 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 severity ISO DNA:polymorphism:exon: p. E298D (human)
protein:decreased expression, decreased phosphorylation:endothelial cells
associated with heart failure; protein:decreased expression:serum
protein:increased expression:endothelial cell
RGD PMID:18651156, PMID:20159829, PMID:16806535, PMID:18413499 RGD:4892052, RGD:4892051, RGD:4892059, RGD:4891909 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO mRNA, protein:increased expression:lymphoid tissue: RGD PMID:15611350 RGD:4892608 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO RGD PMID:17667845 RGD:5144120 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:21698055 RGD:6482785 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:endothelial cell RGD PMID:18413499 RGD:4891909 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:monocyte RGD PMID:17013605 RGD:2298862 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Obstructive sleep apnea syndrome ClinVar PMID:25741868 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:18330639 RGD:4144837 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Slc6a4 solute carrier family 6 member 4 no_association ISO DNA:polymorphism, repeat:promoter, intron (human)
DNA:polymorphism:promoter (human)
RGD PMID:15867649, PMID:19014073, PMID:16215942 RGD:4889466, RGD:4889462, RGD:4889463 NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Obstructive sleep apnea syndrome ClinVar PMID:25741868 NCBI chr 6:98,884,269...99,153,551 JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter: c.-308G>A (human)
protein:increased expression:plasma
RGD PMID:19022640, PMID:14633242, PMID:20846669 RGD:4143442, RGD:4142857, RGD:4143435 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 protein:increased expression:serum (human) RGD PMID:19148690 RGD:5131433 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
Paraquat Lung term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Skil SKI-like proto-oncogene ISO CTD Direct Evidence: therapeutic CTD PMID:23590892 NCBI chr 2:115,862,932...115,891,304
Ensembl chr 2:115,866,701...115,891,097
JBrowse link
G Smad7 SMAD family member 7 ISO CTD Direct Evidence: therapeutic CTD PMID:23590892 NCBI chr18:71,395,830...71,424,164
Ensembl chr18:71,395,830...71,424,157
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA,protein:increased expression:lung,serum: RGD PMID:24535699 RGD:11073678 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
Paroxysmal Dyspnea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adora1 adenosine A1 receptor ISO RGD PMID:21388992 RGD:5129099 NCBI chr13:51,042,111...51,076,913
Ensembl chr13:51,042,248...51,076,852
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO ClinVar Annotator: match by term: Asthma, nocturnal, susceptibility to ClinVar PMID:7706471, PMID:9399946, PMID:9399966, PMID:9522789, PMID:11739457, PMID:14557466, PMID:15500895, PMID:15867853, PMID:16596417, PMID:28492532 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Peripheral neuropathy, myopathy, hoarseness, and hearing loss
ClinVar Annotator: match by OMIM:614369
OMIM
ClinVar
PMID:21480433, PMID:23806086, PMID:24088041, PMID:25741868, PMID:26257172, PMID:26752647, PMID:28492532 NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074
JBrowse link
Perry syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Perry syndrome
ClinVar Annotator: match by OMIM:168605
ClinVar
OMIM
PMID:15326253, PMID:17824900, PMID:18812314, PMID:19136952, PMID:19506225, PMID:20437543, PMID:22777741, PMID:23143281, PMID:24343258, PMID:24627108, PMID:25025039, PMID:25299611, PMID:25382069, PMID:25741868, PMID:26392352, PMID:26429889, PMID:26467025, PMID:26662454, PMID:27132499, PMID:28130640, PMID:28430856, PMID:28492532, PMID:29525180, PMID:20702129, PMID:19136952 RGD:5534575, RGD:5535748 NCBI chr 4:114,876,770...114,896,567
Ensembl chr 4:114,876,770...114,896,573
JBrowse link
Pitt-Hopkins syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome
DNA:deletions: :
CTD
ClinVar
PMID:18414213, PMID:19896112, PMID:25741868, PMID:26467025, PMID:27747449, PMID:28492532, PMID:19896112 RGD:13450912 NCBI chr 4:74,700,539...77,025,463 JBrowse link
G Nrxn1 neurexin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome
CTD
ClinVar
PMID:19896112, PMID:28492532 NCBI chr 6:13,886,757...15,191,660
Ensembl chr 6:13,886,740...15,191,660
JBrowse link
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Pitt-Hopkins syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:610954
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:12032737, PMID:16531728, PMID:17436254, PMID:17436255, PMID:18414213, PMID:18728071, PMID:18992165, PMID:19235238, PMID:19938247, PMID:21671391, PMID:22045651, PMID:22460224, PMID:22777675, PMID:22934316, PMID:23248353, PMID:24077912, PMID:24088041, PMID:24126932, PMID:25167861, PMID:25326635, PMID:25326637, PMID:25741868, PMID:26010163, PMID:26350204, PMID:26467025, PMID:26621827, PMID:26633545, PMID:26993267, PMID:28492532, PMID:28631899, PMID:28708303, PMID:28807867, PMID:29695756, PMID:30311386, PMID:32581362, PMID:32860008 NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
JBrowse link
Pitt-Hopkins-like syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2
ClinVar Annotator: match by OMIM:614325
OMIM
ClinVar
PMID:2504536, PMID:17034946, PMID:18179900, PMID:18414213, PMID:19896112, PMID:20347009, PMID:20848651, PMID:21288692, PMID:21424692, PMID:21681106, PMID:21827697, PMID:21964664, PMID:22405623, PMID:22504536, PMID:22617343, PMID:23207424, PMID:23472757, PMID:23495017, PMID:23533028, PMID:23849776, PMID:24832020, PMID:25149956, PMID:25326635, PMID:25614873, PMID:25661985, PMID:25741868, PMID:26325558, PMID:26467025, PMID:26742492, PMID:27195815, PMID:28289584, PMID:28492532, PMID:30311386 NCBI chr 6:13,886,757...15,191,660
Ensembl chr 6:13,886,740...15,191,660
JBrowse link
PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL ClinVar
OMIM
PMID:25741868, PMID:29053800, PMID:31727539 NCBI chr 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768
JBrowse link
pulmonary edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase IMP associated with Acute Lung Injury RGD PMID:20228181 RGD:5128842 NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO CTD Direct Evidence: therapeutic CTD PMID:25945502 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adora2a adenosine A2a receptor ISO associated with Reperfusion Injury RGD PMID:19909990 RGD:4890361 NCBI chr20:14,265,251...14,282,873
Ensembl chr20:14,265,252...14,282,873
JBrowse link
G Adrb2 adrenoceptor beta 2 IMP
ISO
DNA:SNPs: :46A>G, 79C>G and 523C>A (human) RGD PMID:18987456, PMID:20546540 RGD:5129128, RGD:4144884 NCBI chr18:57,513,792...57,515,834
Ensembl chr18:57,513,793...57,515,834
JBrowse link
G Agt angiotensinogen ISO DNA:polymorphism: :p.M235T (human) RGD PMID:21393362 RGD:5129160 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Alox5 arachidonate 5-lipoxygenase IMP RGD PMID:8111595 RGD:4890432 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Cat catalase ISO CTD Direct Evidence: therapeutic CTD PMID:15612528 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP associated with Shock, Septic;protein:increased expression:lung RGD PMID:18555988 RGD:2307014 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ghrh growth hormone releasing hormone ISO CTD Direct Evidence: therapeutic CTD PMID:22308467 NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
JBrowse link
G Il13 interleukin 13 ISO aosciated with Enterovirus Infections RGD PMID:15635619 RGD:4145737 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il17a interleukin 17A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28600744 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il18 interleukin 18 ISO RGD PMID:19394645 RGD:4889555 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1b interleukin 1 beta ISO associated with Subarachnoid Hemorrhage;protein:increased expression:lung RGD PMID:19875734 RGD:4142817 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il33 interleukin 33 ISO associated with Plasmodium falciparum malaria;protein:increased expression:lung RGD PMID:26437894 RGD:11342349 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
JBrowse link
G Mif macrophage migration inhibitory factor ISO associated with hemorrhage RGD PMID:17277045 RGD:4891015 NCBI chr20:13,715,219...13,732,980
Ensembl chr20:13,732,198...13,732,859
JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:alveolus
protein:increased expression:lung
RGD PMID:16256382, PMID:14767587 RGD:4891463, RGD:5132626 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 IEP
ISO
protein:increased expression:lung
CTD Direct Evidence: therapeutic
CTD PMID:16844920, PMID:14767587 RGD:5132626 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11818323 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Sftpa1 surfactant protein A1 susceptibility ISO DNA:SNPs:cds:1101C>T, 3192T>C, 3234T>C (human) RGD PMID:16162765 RGD:4144872 NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Sgms1 sphingomyelin synthase 1 IDA
IEP
IMP
mRNA:increased expression:lung (rat) RGD PMID:12353928, PMID:12353928, PMID:12353928 RGD:1302423, RGD:1302423, RGD:1302423 NCBI chr 1:250,692,448...250,951,685
Ensembl chr 1:250,691,370...250,951,697
JBrowse link
G Tacr1 tachykinin receptor 1 ISO RGD PMID:19633070 RGD:5147816 NCBI chr 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504
JBrowse link
G Tgfa transforming growth factor alpha ISO CTD Direct Evidence: therapeutic CTD PMID:11919079 NCBI chr 4:117,961,877...118,045,923
Ensembl chr 4:117,962,319...118,046,344
JBrowse link
G Tlr4 toll-like receptor 4 ISO associated with reperfusion injury RGD PMID:19376887 RGD:4144136 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:Bronchoalveolar Lavage Fluid
CTD Direct Evidence: therapeutic
CTD PMID:21188088, PMID:9628235 RGD:4142833 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vegfa vascular endothelial growth factor A IDA RGD PMID:16793871 RGD:1580547 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
Pulmonary Edema of Mountaineers term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1-like IEP mRNA:increased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Fis1 fission, mitochondrial 1 IEP mRNA:increased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr12:22,750,485...22,765,324
Ensembl chr12:22,750,485...22,765,308
JBrowse link
G Gucy1a1 guanylate cyclase 1 soluble subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25373139 NCBI chr 2:181,045,694...181,103,321
Ensembl chr 2:181,045,703...181,102,918
JBrowse link
G Hmox1 heme oxygenase 1 IEP protein:increased expression:lung RGD PMID:21296072 RGD:10755745 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Mfn2 mitofusin 2 IEP mRNA:decreased expression:lung (rat) RGD PMID:23517027 RGD:12738217 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
respiratory failure term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:32558485 NCBI chr 3:4,374,679...4,394,374
Ensembl chr 3:4,374,602...4,394,428
JBrowse link
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO CTD Direct Evidence: marker/mechanism CTD PMID:19822448 NCBI chr13:52,889,570...52,964,558
Ensembl chr13:52,889,737...52,964,155
JBrowse link
G Ecel1 endothelin converting enzyme-like 1 ISO RGD PMID:10400672 RGD:734911 NCBI chr 9:94,238,568...94,252,484
Ensembl chr 9:94,239,006...94,250,809
JBrowse link
G Fbln5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189163 NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
G Fst follistatin ISO RGD PMID:7885475 RGD:737711 NCBI chr 2:46,537,589...46,544,813
Ensembl chr 2:46,538,700...46,544,457
JBrowse link
G Ift80 intraflagellar transport 80 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17468754 NCBI chr 2:165,506,878...165,600,748
Ensembl chr 2:165,505,810...165,600,748
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20620343 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Il15 interleukin 15 ISO associated with Influenza RGD PMID:20003352 RGD:4888530 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
JBrowse link
G Il18 interleukin 18 ISO associated with pancreatitis; protein:increased expression:plasma RGD PMID:19357034 RGD:4889556 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32558485 NCBI chr 8:132,774,393...132,790,922
Ensembl chr 8:132,775,587...132,790,839
JBrowse link
G Mapt microtubule-associated protein tau ISO CTD Direct Evidence: marker/mechanism CTD PMID:14595660 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Mbl2 mannose binding lectin 2 ISO DNA:mutations:5' utr, exon:multiple (human) RGD PMID:18582923 RGD:4889496 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19559301 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Mgme1 mitochondrial genome maintenance exonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23313956 NCBI chr 3:138,397,925...138,406,672
Ensembl chr 3:138,398,011...138,406,666
JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Respiratory insufficiency ClinVar PMID:25537362, PMID:25741868, PMID:30311386 NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27192616 NCBI chr 1:43,454,803...43,704,948
Ensembl chr 1:43,454,803...43,704,948
JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: therapeutic CTD PMID:6662192 NCBI chr 3:122,194,327...122,206,671
Ensembl chr 3:122,194,329...122,206,671
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:25331496 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Sftpb surfactant protein B ISO associated with Pulmonary Disease, Chronic Obstructive;DNA:polymorphism:intron (human)
associated with Pulmonary Alveolar Proteinosis;DNA:insertion:exon:375delCinsGAA (human)
RGD PMID:1622844, PMID:12639841, PMID:12515908, PMID:8163685 RGD:4143460, RGD:4143410, RGD:4143414, RGD:1624152 NCBI chr 4:100,166,855...100,175,941
Ensembl chr 4:100,166,863...100,175,938
JBrowse link
G Slc23a1 solute carrier family 23 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11984597 NCBI chr18:28,413,910...28,428,133
Ensembl chr18:28,414,009...28,428,117
JBrowse link
G Sod1 superoxide dismutase 1 ISO ClinVar Annotator: match by term: Respiratory insufficiency ClinVar PMID:30311386 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666374 NCBI chr10:110,643,693...110,800,493
Ensembl chr10:110,643,759...110,800,493
JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: therapeutic CTD PMID:1305443, PMID:1833029 NCBI chr 4:124,110,716...124,113,242
Ensembl chr 4:124,110,716...124,113,242
JBrowse link
sleep apnea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:19913847 RGD:5686853 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Sleep apnea ClinVar PMID:23806086, PMID:24088041, PMID:24791903, PMID:25741868 NCBI chr 5:151,209,894...151,277,192
Ensembl chr 5:151,211,342...151,277,165
JBrowse link
G Apoe apolipoprotein E ISO GAD PMID:15118671 RGD:1331525 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18555211 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Il18 interleukin 18 severity ISO RGD PMID:19187612 RGD:4889903 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il6r interleukin 6 receptor ISO RGD PMID:16983050 RGD:5128666 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
JBrowse link
G Lepr leptin receptor ISO RGD PMID:11896492 RGD:5128873 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G S100b S100 calcium binding protein B IEP protein:increased expression:cerebral cortex, hippocampus, astrocyte RGD PMID:20002528 RGD:5508790 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
G Selenon selenoprotein N ISO ClinVar Annotator: match by term: Sleep apnea ClinVar PMID:15792869, PMID:19557870, PMID:28492532, PMID:30311386 NCBI chr 5:152,748,497...152,765,489
Ensembl chr 5:152,750,284...152,762,165
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma RGD PMID:20508215 RGD:4144827 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Tbp TATA box binding protein ISO associated with Sudden Infant Death; protein:altered expression:brainstem (human) RGD PMID:14693397 RGD:5684350 NCBI chr 1:57,491,381...57,509,335
Ensembl chr 1:57,491,643...57,508,449
JBrowse link
Upper Airway Obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ghrh growth hormone releasing hormone IEP mRNA, protein:decreased expression:hypothalamus (rat) RGD PMID:21406516 RGD:5687169 NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
JBrowse link
G Ghrhr growth hormone releasing hormone receptor IEP mRNA, protein:decreased expression:hypothalamus RGD PMID:21406516 RGD:5687169 NCBI chr 4:85,587,321...85,602,389
Ensembl chr 4:85,588,595...85,601,666
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
        Respiration Disorders 274
          Altitude Sickness + 6
          Apnea + 73
          Cheyne-Stokes Respiration 0
          Cough + 18
          Dyspnea + 12
          Hoarseness + 3
          Hyperventilation + 9
          Hypoglossia with Situs Inversus 0
          Isolated Hypoglossia 0
          Methionine Malabsorption Syndrome 0
          Mouth Breathing 0
          Respiratory Aspiration + 0
          Tachypnea + 0
          Vocal Cord Dysfunction + 0
          acute chest syndrome 6
          adult respiratory distress syndrome 107
          autosomal recessive limb-girdle muscular dystrophy type 2D 5
          early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 1
          meconium aspiration syndrome 4
          respiratory failure + 186
paths to the root

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