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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:Signs and Symptoms, Respiratory
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Accession:DOID:9000575 term browser browse the term
Definition:Respiratory system manifestations of diseases of the respiratory tract or of other organs.
Synonyms:primary_id: MESH:D012818;   RDO:0004860
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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
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
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
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
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
Fetal Hypoxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crh corticotropin releasing hormone IEP protein:increased expression:paraventricular nucleus of hypothalamus (rat) RGD PMID:19409200 RGD:5491006 NCBI chr 2:104,459,999...104,461,863
Ensembl chr 2:104,459,999...104,461,863
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 IEP protein:increased expression:paraventricular nucleus of hypothalamus (rat) RGD PMID:19409200 RGD:5491006 NCBI chr10:92,191,473...92,233,662
Ensembl chr10:92,191,718...92,232,645
JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 IEP protein:decreased expression:paraventricular nucleus of hypothalamus (rat) RGD PMID:19409200 RGD:5491006 NCBI chr 4:85,286,371...85,329,374
Ensembl chr 4:85,286,372...85,329,362
JBrowse link
G Egr1 early growth response 1 IDA RGD PMID:23427086 RGD:10395301 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Mmp1 matrix metallopeptidase 1 IEP protein:altered expression:heart (rat) RGD PMID:21856922 RGD:7207283 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp13 matrix metallopeptidase 13 IEP protein:increased expression:heart (rat) RGD PMID:21856922 RGD:7207283 NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
JBrowse link
G Nos1 nitric oxide synthase 1 IEP RGD PMID:17310378 RGD:1642145 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
Hypercapnia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 IEP protein:decreased expression:lung (rat) RGD PMID:19666777 RGD:4143279 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Edn1 endothelin 1 IEP
ISO
protein:increased secretion:plasma (rat) RGD PMID:11230327, PMID:8764295 RGD:4144885, RGD:4144902 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Lep leptin ISO associated with obesity RGD PMID:11809994 RGD:5128875 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11311734 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11311734 NCBI chr 3:122,194,327...122,206,671
Ensembl chr 3:122,194,329...122,206,671
JBrowse link
Hyperoxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme IEP mRNA, protein:increased expression:lung (rat) RGD PMID:21791939 RGD:12880008 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment IEP protein:decreased expression:lung RGD PMID:17343756, PMID:22883037 RGD:1625339, RGD:7245514 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23337360 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Alox5 arachidonate 5-lipoxygenase IEP protein:increased expression:lung RGD PMID:12490039 RGD:4890420 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein IEP protein:increased expression:lung RGD PMID:12490039 RGD:4890420 NCBI chr12:6,854,930...6,879,112
Ensembl chr12:6,854,920...6,879,154
JBrowse link
G Arg1 arginase 1 IEP protein:increased expression:lung (rat) RGD PMID:9688940 RGD:4144054 NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
JBrowse link
G Arg2 arginase 2 IEP protein:increased expression:lung (rat) RGD PMID:9688940 RGD:4144054 NCBI chr 6:102,311,097...102,338,406
Ensembl chr 6:102,311,116...102,338,520
JBrowse link
G Asl argininosuccinate lyase IEP protein:increased expression:lung (rat) RGD PMID:20805789 RGD:4142785 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Ass1 argininosuccinate synthase 1 IEP protein:increased expression:lung (rat) RGD PMID:20805789 RGD:4142785 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Bdnf brain-derived neurotrophic factor IEP RGD PMID:15821016 RGD:4891113 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP RGD PMID:23236544 RGD:8699519 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Bnip3 BCL2 interacting protein 3 IEP mRNA:decreased expression:retina RGD PMID:20157446 RGD:5128796 NCBI chr 1:211,248,098...211,265,282
Ensembl chr 1:211,248,098...211,265,282
JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO protein:increased expression:lung (mouse) RGD PMID:18948842 RGD:11252154 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
JBrowse link
G Ccn4 cellular communication network factor 4 treatment IEP RGD PMID:23481549 RGD:10003108 NCBI chr 7:107,695,227...107,723,759
Ensembl chr 7:107,695,215...107,723,772
JBrowse link
G Cdk4 cyclin-dependent kinase 4 IEP mRNA:increased expression:lung RGD PMID:18082050 RGD:2289663 NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A IEP
ISO
protein:increased expression:lung RGD PMID:18082050, PMID:9476904 RGD:2289663, RGD:10043823 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator IEP protein:increased expression:cerebral cortex (rat) RGD PMID:19107989 RGD:8662854 NCBI chr 9:65,534,608...65,586,395
Ensembl chr 9:65,534,704...65,587,251
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO mRNA, protein:increased expression:lung RGD PMID:20220550 RGD:4145114 NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO
IEP
mRNA, protein:increased expression:liver, lung
CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:liver, lung (rat)
CTD PMID:24893714, PMID:15123765, PMID:8267628 RGD:4892073, RGD:2307076 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Edn1 endothelin 1 IEP protein:altered expression:lung (rat) RGD PMID:20589171 RGD:4144857 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Fadd Fas associated via death domain IDA protein:increased expression:thalamus RGD PMID:19107989 RGD:8662854 NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
JBrowse link
G Fas Fas cell surface death receptor susceptibility IEP
ISO
mRNA:increased expression:thalamus, cerebral cortex (rat) RGD PMID:19107989, PMID:19107989 RGD:8662854, RGD:8662854 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 IEP protein:increased expression:brain (rat) RGD PMID:20049628 RGD:13504857 NCBI chr 1:263,246,248...263,269,762
Ensembl chr 1:263,246,248...263,269,762
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:lung (mouse) RGD PMID:20237791 RGD:4145449 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Igf1 insulin-like growth factor 1 severity ISO human protein in a rat model RGD PMID:17697625 RGD:12904925 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 IEP mRNA:increased expression:lung RGD PMID:16288470 RGD:1626492 NCBI chr 9:80,118,029...80,144,804
Ensembl chr 9:80,118,029...80,144,789
JBrowse link
G Il18 interleukin 18 IDA RGD PMID:19672068 RGD:4889402 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il6 interleukin 6 IEP RGD PMID:20663297 RGD:4143252 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Irak4 interleukin-1 receptor-associated kinase 4 ISO RGD PMID:15622543 RGD:7495804 NCBI chr 7:135,803,723...135,831,006
Ensembl chr 7:135,803,698...135,832,652
JBrowse link
G Mc1r melanocortin 1 receptor ISO mRNA:increased expression:lung (mouse) RGD PMID:8110467 RGD:6484136 NCBI chr19:56,215,420...56,219,987 JBrowse link
G Mc2r melanocortin 2 receptor ISO mRNA:increased expression:lung (mouse) RGD PMID:8110467 RGD:6484136 NCBI chr18:64,166,959...64,178,729
Ensembl chr18:64,167,191...64,177,729
JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP protein:decreased expression, decreased activity:lung RGD PMID:15128910 RGD:8547972 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO
IEP
mRNA, protein:decreased expression, decreased activity:lung RGD PMID:18658276, PMID:15128910 RGD:5130148, RGD:8547972 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b IEP mRNA:increased expression:lung RGD PMID:18481000 RGD:2298955 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
G Mt1 metallothionein 1 ISO mRNA:increased expression:lung (mouse) RGD PMID:8110467 RGD:6484136 NCBI chr19:11,301,991...11,303,007
Ensembl chr17:78,793,336...78,793,724
JBrowse link
G Mt2A metallothionein 2A ISO mRNA:increased expression:lung (mouse) RGD PMID:8110467 RGD:6484136 NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
JBrowse link
G Mt3 metallothionein 3 IEP RGD PMID:15680347 RGD:9686051 NCBI chr19:11,324,708...11,326,112
Ensembl chr19:11,324,698...11,326,139
JBrowse link
G Nos3 nitric oxide synthase 3 IEP mRNA, protein:decreased expression:lung RGD PMID:17937862 RGD:2292125 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 IDA RGD PMID:21551015 RGD:11035211 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha IEP protein:increased expression:vascular associated smooth muscle cell RGD PMID:15722379 RGD:1580851 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta IEP protein:increased expression:vascular associated smooth muscle cell RGD PMID:15722379 RGD:1580851 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Pdpn podoplanin IEP protein:increased tyrosine nitration:lung RGD PMID:12922978 RGD:1302251 NCBI chr 5:161,947,137...161,981,441
Ensembl chr 5:161,947,137...161,981,441
JBrowse link
G Plau plasminogen activator, urokinase IEP mRNA, protein:altered expression:lung (rat) RGD PMID:19099788 RGD:4143526 NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Plcd1 phospholipase C, delta 1 IEP protein:altered localization RGD PMID:12850505 RGD:1299008 NCBI chr 8:127,753,514...127,782,070
Ensembl chr 8:127,753,539...127,782,070
JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO mRNA:decreased expression:epithelial cell RGD PMID:9555576 RGD:5144215 NCBI chr 1:225,279,698...225,283,246
Ensembl chr 1:225,279,676...225,283,326
JBrowse link
G Sftpa1 surfactant protein A1 IEP mRNA, protein:increased expression:lung
mRNA:increased expression:bronchus, Clara cell
RGD PMID:11472975, PMID:16620381 RGD:4143429, RGD:4143387 NCBI chr16:18,716,019...18,719,404
Ensembl chr16:18,716,019...18,719,403
JBrowse link
G Sftpb surfactant protein B IEP
ISO
mRNA:increased expression:lung RGD PMID:11472975, PMID:10502556 RGD:4143429, RGD:4143438 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 mRNA:increased expression:lung RGD PMID:11472975 RGD:4143429 NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
JBrowse link
G Sftpd surfactant protein D resistance IEP
IMP
ISO
mRNA, protein:increased expression:lung RGD PMID:11472975, PMID:18635887, PMID:17158597 RGD:4143429, RGD:4143499, RGD:4143385 NCBI chr16:18,753,535...18,766,100
Ensembl chr16:18,745,458...18,766,174
JBrowse link
G Sod2 superoxide dismutase 2 IEP RGD PMID:2001291 RGD:729952 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Sod3 superoxide dismutase 3 ISO RGD PMID:16100289 RGD:1581277 NCBI chr14:60,958,583...60,971,143
Ensembl chr14:60,958,592...60,964,324
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 Tgfb1 transforming growth factor, beta 1 IEP
ISO
protein:decreased activity:lung RGD PMID:18353229, PMID:20220550, PMID:18245268 RGD:4145291, RGD:4145114, RGD:4145293 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 IEP protein:increased expression:lung RGD PMID:15128910 RGD:8547972 NCBI chr  X:1,364,771...1,369,451
Ensembl chr  X:1,364,786...1,369,384
JBrowse link
G Tnc tenascin C ISO protein:increased expression:lung RGD PMID:17001473 RGD:4889566 NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:8679214 RGD:10449454 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 CTD Direct Evidence: marker/mechanism CTD PMID:10781441 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
JBrowse link
G Ttpa alpha tocopherol transfer protein IEP mRNA:decreased expression:liver RGD PMID:12448818 RGD:1600432 NCBI chr 5:34,007,926...34,029,315
Ensembl chr 5:34,007,920...34,028,452
JBrowse link
Hyperoxic Lung Injury term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 treatment IDA
ISO
RGD PMID:15958656, PMID:21745492, PMID:24893714 RGD:4892072, RGD:11576318, RGD:11576306 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Elane elastase, neutrophil expressed treatment IMP RGD PMID:11104832 RGD:10450581 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
JBrowse link
G Fgf2 fibroblast growth factor 2 IMP RGD PMID:12626345 RGD:11567262 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:23475767 RGD:10755753 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:25760549 RGD:13204816 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO RGD PMID:16678022 RGD:10769360 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 ISO RGD PMID:16678022 RGD:10769360 NCBI chr17:32,131,847...32,158,559
Ensembl chr17:32,132,347...32,158,538
JBrowse link
G Pdgfb platelet derived growth factor subunit B IEP mRNA:increased expression:lung: RGD PMID:2696512 RGD:10449500 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Ptch1 patched 1 IEP mRNA, protein:increased expression:lung RGD PMID:22641469 RGD:12859031 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Shh sonic hedgehog signaling molecule IEP mRNA, protein:increased expression:lung RGD PMID:22641469 RGD:12859031 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Xdh xanthine dehydrogenase IEP RGD PMID:2549869 RGD:13209004 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
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
Hypoxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase, very long chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:18258771 NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
JBrowse link
G Actb actin, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
G Adk adenosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr15:3,033,535...3,435,888
Ensembl chr15:3,033,495...3,435,888
JBrowse link
G Ahcy adenosylhomocysteinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr 3:150,587,833...150,603,057
Ensembl chr 3:150,587,833...150,603,082
JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family, member L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr 4:123,516,553...123,564,067
Ensembl chr 4:123,516,788...123,557,501
JBrowse link
G Aldob aldolase, fructose-bisphosphate B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr 5:64,805,772...64,818,813
Ensembl chr 5:64,805,773...64,818,824
JBrowse link
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18258771 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link
G Asl argininosuccinate lyase IEP protein:increased activity:brain (rat) RGD PMID:20567615 RGD:4110824 NCBI chr12:30,160,922...30,178,348
Ensembl chr12:30,165,694...30,178,341
JBrowse link
G Ass1 argininosuccinate synthase 1 IEP protein:increased activity:brain (rat) RGD PMID:20567615 RGD:4110824 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Atf4 activating transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14604972 NCBI chr 7:121,480,723...121,482,781
Ensembl chr 7:121,480,723...121,482,772
JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha IEP protein:decreased expression:gastrocnemius (rat) RGD PMID:22401655 RGD:13703058 NCBI chr18:74,156,553...74,164,490
Ensembl chr18:74,156,553...74,164,495
JBrowse link
G Atp5f1b ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr 7:2,504,708...2,511,748
Ensembl chr 7:2,504,695...2,511,749
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16553631 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Ca9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16954440 NCBI chr 5:59,008,277...59,015,535
Ensembl chr 5:59,008,933...59,015,528
JBrowse link
G Casp3 caspase 3 IEP RGD PMID:18466900 RGD:2293315 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casr calcium-sensing receptor IMP RGD PMID:22098336 RGD:7205678 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:plasma (rat) RGD PMID:20813992 RGD:8549511 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cpa2 carboxypeptidase A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr 4:57,855,416...57,879,239
Ensembl chr 4:57,855,416...57,879,239
JBrowse link
G Crp C-reactive protein ISO associated with Influenza RGD PMID:21199168 RGD:5131285 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cs citrate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr 7:2,752,680...2,778,963
Ensembl chr 7:2,752,680...2,778,963
JBrowse link
G Dgkz diacylglycerol kinase zeta IEP protein:decreased dimerization:hippocampus (rat) RGD PMID:24893663 RGD:9590077 NCBI chr 3:80,844,002...80,886,487
Ensembl chr 3:80,844,005...80,875,817
JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12468449 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Esd esterase D ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr15:56,756,848...56,776,348
Ensembl chr15:56,756,661...56,776,348
JBrowse link
G Fundc1 FUN14 domain containing 1 severity ISO protein:decreased expression:brain (mouse) RGD PMID:22267086, PMID:27995894 RGD:12738373, RGD:12738374 NCBI chr  X:5,549,468...5,566,125
Ensembl chr  X:5,549,419...5,566,127
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:20862257 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 Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment IEP associated with Hypercapnia RGD PMID:24718106 RGD:13210749 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Hp haptoglobin IEP protein:decreased expression:plasma RGD PMID:3094379 RGD:1626356 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Hsf1 heat shock transcription factor 1 IEP protein:increased expression:gastric mucosa (rat) RGD PMID:22156356 RGD:10402813 NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 IEP associated with Brain Injuries;mRNA:increased expression:brain RGD PMID:17439344 RGD:1624228 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A IEP RGD PMID:16362404 RGD:1624392 NCBI chr15:56,666,152...56,732,469
Ensembl chr15:56,666,012...56,735,382
JBrowse link
G Il4r interleukin 4 receptor ISO RGD PMID:19380795 RGD:4890390 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 IEP mRNA:decreased expression:hippocampus RGD PMID:28072885 RGD:13793382 NCBI chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
JBrowse link
G Kcnab1 potassium voltage-gated channel subfamily A member regulatory beta subunit 1 ISO mRNA:decreased expression:carotid body (mouse) RGD PMID:15890701 RGD:9743958 NCBI chr 2:155,555,798...156,011,438
Ensembl chr 2:155,718,359...156,009,526
JBrowse link
G Kdm3a lysine demethylase 3A IEP mRNA:increased expression:multiple (rat) RGD PMID:18538129 RGD:9586363 NCBI chr 4:99,503,160...99,547,315
Ensembl chr 4:99,503,176...99,546,905
JBrowse link
G Mb myoglobin IDA RGD PMID:12530625 RGD:1582429 NCBI chr 7:118,101,633...118,108,864
Ensembl chr 7:118,101,634...118,108,864
JBrowse link
G Mme membrane metallo-endopeptidase treatment IEP
ISO
RGD PMID:11557598, PMID:11557598 RGD:13801041, RGD:13801041 NCBI chr 2:153,799,203...153,880,910
Ensembl chr 2:153,803,349...153,880,738
JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8552434 NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
JBrowse link
G Nap1l1 nucleosome assembly protein 1-like 1 IEP protein:decreased dimerization:hippocampus (rat) RGD PMID:24893663 RGD:9590077 NCBI chr 7:54,213,305...54,237,880
Ensembl chr 7:54,213,319...54,236,625
JBrowse link
G Nap1l4 nucleosome assembly protein 1-like 4 IEP protein:decreased dimerization:hippocampus (rat) RGD PMID:24893663 RGD:9590077 NCBI chr 1:216,715,352...216,751,742
Ensembl chr 1:216,715,363...216,750,844
JBrowse link
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr10:81,657,152...81,666,542
Ensembl chr10:81,657,153...81,666,523
JBrowse link
G Nos1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10956627 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10956627 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11311734 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
G Nppc natriuretic peptide C IEP protein:increased expression:lung, plasma RGD PMID:16677483 RGD:1642268 NCBI chr 9:93,731,436...93,735,636
Ensembl chr 9:93,731,436...93,735,636
JBrowse link
G Oxtr oxytocin receptor IMP RGD PMID:18655887 RGD:2304092 NCBI chr 4:144,399,326...144,417,598
Ensembl chr 4:144,403,358...144,416,116
JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) ISO CTD Direct Evidence: marker/mechanism CTD PMID:18258771 NCBI chr15:34,216,735...34,224,357
Ensembl chr15:34,216,833...34,224,193
JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11311734 NCBI chr 3:122,194,327...122,206,671
Ensembl chr 3:122,194,329...122,206,671
JBrowse link
G Pgf placental growth factor IEP protein:decreased expression:serum RGD PMID:17240241 RGD:1642388 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
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 Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11311734, PMID:24412703 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:pulmonary artery RGD PMID:19710084 RGD:5135519 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rad51 RAD51 recombinase IEP associated with Gliosarcoma;mRNA:decreased expression:tumor (rat) RGD PMID:21266355 RGD:9831171 NCBI chr 3:110,918,240...110,942,920
Ensembl chr 3:110,918,243...110,942,917
JBrowse link
G Rps14 ribosomal protein S14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18258771 NCBI chr18:56,042,532...56,047,316
Ensembl chr18:56,044,369...56,047,316
JBrowse link
G Rps2 ribosomal protein S2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18258771 NCBI chr10:14,088,171...14,090,020
Ensembl chr10:14,088,319...14,089,979
JBrowse link
G Sardh sarcosine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr 3:5,737,203...5,802,153
Ensembl chr 3:5,737,200...5,802,129
JBrowse link
G Serpinf1 serpin family F member 1 IEP mRNA, protein:decreased expression:retina (rat) RGD PMID:18331686 RGD:8655558 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Slc6a4 solute carrier family 6 member 4 IEP mRNA:increased expression:lung RGD PMID:11259539 RGD:4889445 NCBI chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
JBrowse link
G Sod1 superoxide dismutase 1 treatment IDA RGD PMID:21453737 RGD:8657026 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18258771, PMID:19579223 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Sod3 superoxide dismutase 3 ISO RGD PMID:15375030 RGD:1581265 NCBI chr14:60,958,583...60,971,143
Ensembl chr14:60,958,592...60,964,324
JBrowse link
G Stat5b signal transducer and activator of transcription 5B IEP mRNA:increased expression:perifornical nucleus RGD PMID:16730240 RGD:1601380 NCBI chr10:88,686,207...88,712,313
Ensembl chr10:88,686,207...88,754,829
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO CTD Direct Evidence: therapeutic CTD PMID:23727623 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
JBrowse link
G Tkt transketolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr16:6,609,670...6,634,608
Ensembl chr16:6,609,668...6,634,595
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
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
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
Pulmonary Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elane elastase, neutrophil expressed IMP associated with Pancreatitis, Experimental, sepsis; RGD PMID:7587785 RGD:10450559 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
JBrowse link
G Psen2 presenilin 2 ISO RGD PMID:10518543 RGD:1302521 NCBI chr13:98,513,600...98,539,347
Ensembl chr13:98,513,570...98,530,724
JBrowse link
Respiratory Sounds term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18950799 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Il13 interleukin 13 ISO associated with Bronchiolitis; protein:increased expression:serum RGD PMID:18312531 RGD:4145779 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression: : RGD PMID:20199725 RGD:4889143 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18410779 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:brochoalveolar lavage fluid RGD PMID:18391843 RGD:5130916 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Ms4a2 membrane spanning 4-domains A2 ISO DNA:polymorphism:CDS: E237G (human) RGD PMID:18269668 RGD:5131102 NCBI chr 1:227,957,363...227,965,312
Ensembl chr 1:227,957,302...227,965,386
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:SNPs::rs11536891,rs11536896,rs11536898(human) RGD PMID:20085599 RGD:5130731 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr9 toll-like receptor 9 ISO DNA:snp:promoter:g.-1486C>T rs187084 (human) RGD PMID:20085599 RGD:5130731 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
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
Sneezing term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Pathological Conditions, Signs and Symptoms 8754
      Signs and Symptoms 5266
        Signs and Symptoms, Respiratory 225
          Apnea + 73
          Cheyne-Stokes Respiration 0
          Cough + 18
          Dyspnea + 12
          Hemoptysis 0
          Hoarseness + 3
          Hypercapnia 5
          Hyperoxia + 66
          Hyperventilation + 9
          Hypocapnia 0
          Hypoventilation + 11
          Hypoxia + 69
          Infantile Apparent Life-Threatening Event 0
          Mouth Breathing 0
          Pulmonary Hemorrhage + 2
          Respiratory Sounds + 8
          Sneezing + 2
          Tachypnea + 0
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.