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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:Respiratory Signs and Symptoms
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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


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 More... NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II beta ISO ClinVar Annotator: match by term: Apnea ClinVar PMID:25741868 PMID:28492532 PMID:29100089 PMID:30842224 PMID:31036916 More... NCBI chr14:80,845,206...80,934,172
Ensembl chr14:80,845,238...80,933,994 		JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A ISO CTD Direct Evidence: therapeutic CTD PMID:10640309 NCBI chr 2:36,693,462...36,698,026
Ensembl chr 2:36,694,174...36,695,442 		JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Apnea ClinVar PMID:25741868 NCBI chr18:27,885,071...27,905,509
Ensembl chr18:27,884,556...27,905,513 		JBrowse link
G Slc6a5 solute carrier family 6 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25480793 NCBI chr 1:99,645,389...99,697,016
Ensembl chr 1:99,645,389...99,697,010 		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:19175903 PMID:19336477 PMID:19889517 PMID:20595384 PMID:21888995 More... NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388 		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: BCHE, H variant | ClinVar Annotator: match by term: BCHE, J variant | ClinVar Annotator: match by term: Deficiency of butyrylcholine esterase | ClinVar Annotator: match by term: Postanesthetic apnea | ClinVar Annotator: match by term: Pseudocholinesterase E1 deficiency | ClinVar Annotator: match by term: Pseudocholinesterase deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:416211 PMID:1271425 PMID:1306123 PMID:1349196 PMID:1415224 More... RGD:734636 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		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:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694 		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: Apnea, central sleep ClinVar PMID:12548525 PMID:15701560 PMID:25741868 PMID:28492532 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO associated with heart failure; protein:decreased expression:serum RGD PMID:16806535 RGD:4892059 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Tac1 tachykinin, precursor 1 IMP RGD PMID:18420958 RGD:2304275 NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178 		JBrowse link
G Tacr1 tachykinin receptor 1 IMP RGD PMID:18420958 RGD:2304275 NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733 		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 PMID:14532329 NCBI chr 7:21,903,136...21,906,003
Ensembl chr 7:21,903,126...21,905,993 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar
RGD		 PMID:11840487 PMID:25741868 PMID:28492532 PMID:11840487 RGD:734643 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Edn3 endothelin 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome		 CTD
ClinVar		 PMID:8696331 PMID:19556619 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9497256 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Phox2b paired-like homeobox 2b ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: Ondine-Hirschsprung disease | ClinVar Annotator: match by term: Primary alveolar hypoventilation
OMIM:209880
DNA:duplication: :c.691_698dup (human)
DNA:repeats		 CTD
ClinVar
MouseDO
RGD		 PMID:10613788 PMID:12640453 PMID:14566559 PMID:14608649 PMID:15121777 More... RGD:11058834, RGD:12910557 NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978 		JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome | ClinVar Annotator: match by term: Congenital central hypoventilation		 CTD
ClinVar		 PMID:3078962 PMID:7824936 PMID:7835899 PMID:7907913 PMID:7915165 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Tlx3 T-cell leukemia, homeobox 3 ISS OMIM:209880 MouseDO NCBI chr10:17,789,706...17,792,207
Ensembl chr10:17,790,053...17,792,207 		JBrowse link
Congenital Central Hypoventilation Syndrome 1 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: Haddad syndrome ClinVar PMID:14532329 NCBI chr 7:21,903,136...21,906,003
Ensembl chr 7:21,903,126...21,905,993 		JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:14532329 NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | ClinVar Annotator: match by term: Haddad syndrome ClinVar
OMIM		 PMID:9536098 PMID:10613788 PMID:12631670 PMID:12640453 PMID:14566559 More... NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978 		JBrowse link
Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo1h myosin IH ISO ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM
ClinVar		 PMID:25741868 PMID:28779001 NCBI chr12:42,248,942...42,300,103
Ensembl chr12:42,247,138...42,323,730 		JBrowse link
Congenital Central Hypoventilation Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbx1 ladybird homeobox 1 ISO ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 3 OMIM
ClinVar		 PMID:30487221 NCBI chr 1:244,083,873...244,085,690
Ensembl chr 1:244,083,873...244,085,690 		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
ISS		 DNA:frameshift mutation, missense mutations (human)
ClinVar Annotator: match by term: Familial infantile myasthenia
OMIM:254210
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9073174 PMID:9536098 PMID:11172068 PMID:12548525 PMID:12609506 More... RGD:1600831 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093 		JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Familial infantile myasthenia ClinVar PMID:21948486 PMID:25741868 PMID:28492532 NCBI chr16:7,713,630...7,716,491 JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC ClinVar PMID:7728151 PMID:7784063 PMID:7987306 PMID:7987327 PMID:8522307 More... NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		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 susceptibility ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1
OMIM:610042		 CTD
OMIM
ClinVar
MouseDO		 PMID:6564677 PMID:9536098 PMID:11568923 PMID:16199547 PMID:16571880 More... NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027 		JBrowse link
G Cul1 cullin 1 ISO ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome ClinVar PMID:16571880 PMID:22872700 PMID:28492532 NCBI chr 4:76,551,952...76,625,830
Ensembl chr 4:76,551,983...76,627,980 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome ClinVar PMID:16571880 PMID:22872700 PMID:28492532 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Tpk1 thiamin pyrophosphokinase 1 ISO ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome ClinVar PMID:27439707 NCBI chr 4:72,170,134...72,557,707
Ensembl chr 4:72,170,134...72,557,694 		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
RGD		 PMID:12848919 PMID:15498266 PMID:20364557 RGD:4140914 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		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 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497 		JBrowse link
G Ccdc65 coiled-coil domain containing 65 ISO ClinVar Annotator: match by term: Cough ClinVar PMID:23991085 PMID:25741868 PMID:28492532 NCBI chr 7:129,857,118...129,870,803
Ensembl chr 7:129,857,247...129,870,803 		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 chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146 		JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO RGD PMID:9525446 RGD:10449525 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISO ClinVar Annotator: match by term: Cough ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890 		JBrowse link
G Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 ISO ClinVar Annotator: match by term: Cough ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:154,848,586...154,863,042
Ensembl chr 1:154,848,594...154,862,963 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Cough ClinVar PMID:23456818 PMID:25741868 PMID:26874042 PMID:28492532 PMID:29068549 More... NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO RGD PMID:18447907 RGD:4140948 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Il5 interleukin 5 treatment ISO RGD PMID:9525446 RGD:10449525 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Kng1 kininogen 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22693178 NCBI chr11:77,812,757...77,835,555
Ensembl chr11:77,812,752...77,835,555 		JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Cough ClinVar PMID:25741868 PMID:28089114 PMID:28492532 NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO RGD PMID:20696045 RGD:5135513 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Sftpa1 surfactant protein A1 susceptibility ISO DNA:SNPs, haplotypes:cds:multiple (human) RGD PMID:17407567 RGD:4144873 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685 		JBrowse link
G Tacr2 tachykinin receptor 2 susceptibility ISO DNA:SNP:cds:p.G231E (human) RGD PMID:19583679 RGD:5147627 NCBI chr20:30,208,907...30,223,446
Ensembl chr20:30,208,907...30,223,446 		JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:decreased expression:sputum, macrophage RGD PMID:21426732 RGD:7240539 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:sputum RGD PMID:10325899 RGD:4143478 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Trpa1 transient receptor potential cation channel, subfamily A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27545873 NCBI chr 5:4,379,862...4,434,133
Ensembl chr 5:4,379,999...4,433,570 		JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27545873 NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513 		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:71,661,421...71,690,012
Ensembl chr  X:71,663,821...71,690,121 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased secretion:urine (human) RGD PMID:18831711 RGD:4145071 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G F5 coagulation factor V ISO RGD PMID:16186475 RGD:4892656 NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G Fkrp fukutin related protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:29571322 NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 disease_progression ISO RGD PMID:20804518 RGD:5144224 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Dyspnea ClinVar PMID:203979 PMID:2943217 PMID:9536098 PMID:17576681 PMID:20433692 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Dyspnea ClinVar PMID:2793070 PMID:18258667 PMID:24033266 PMID:24111713 PMID:25741868 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Nppb natriuretic peptide B ISO CTD Direct Evidence: therapeutic CTD PMID:20339970 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Dyspnea ClinVar PMID:25741868
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 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 IEP protein:increased expression:paraventricular nucleus of hypothalamus (rat) RGD PMID:19409200 RGD:5491006 NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481 		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 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904 		JBrowse link
G Egr1 early growth response 1 IDA RGD PMID:23427086 RGD:10395301 NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766 		JBrowse link
G Mmp1 matrix metallopeptidase 1 IEP protein:altered expression:heart (rat) RGD PMID:21856922 RGD:7207283 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp13 matrix metallopeptidase 13 IEP protein:increased expression:heart (rat) RGD PMID:21856922 RGD:7207283 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Nos1 nitric oxide synthase 1 IEP RGD PMID:17310378 RGD:1642145 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		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 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Edn1 endothelin 1 IEP
ISO		 protein:increased secretion:plasma (rat) RGD PMID:11230327 PMID:8764295 RGD:4144885, RGD:4144902 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Lep leptin ISO associated with obesity RGD PMID:11809994 RGD:5128875 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11311734 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351 		JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11311734 NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334 		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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		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 chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23337360 NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase IEP protein:increased expression:lung RGD PMID:12490039 RGD:4890420 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743 		JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein IEP protein:increased expression:lung RGD PMID:12490039 RGD:4890420 NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986 		JBrowse link
G Arg1 arginase 1 IEP protein:increased expression:lung (rat) RGD PMID:9688940 RGD:4144054 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422 		JBrowse link
G Arg2 arginase 2 IEP protein:increased expression:lung (rat) RGD PMID:9688940 RGD:4144054 NCBI chr 6:97,936,002...97,961,379
Ensembl chr 6:97,936,002...97,961,378 		JBrowse link
G Asl argininosuccinate lyase IEP protein:increased expression:lung (rat) RGD PMID:20805789 RGD:4142785 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 IEP protein:increased expression:lung (rat) RGD PMID:20805789 RGD:4142785 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Bdnf brain-derived neurotrophic factor IEP RGD PMID:15821016 RGD:4891113 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP RGD PMID:23236544 RGD:8699519 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Bnip3 BCL2 interacting protein 3 IEP mRNA:decreased expression:retina RGD PMID:20157446 RGD:5128796 NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359 		JBrowse link
G Brip1 BRCA1 interacting helicase 1 ISO protein:increased expression:lung (mouse) RGD PMID:18948842 RGD:11252154 NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324 		JBrowse link
G Ccn4 cellular communication network factor 4 treatment IEP RGD PMID:23481549 RGD:10003108 NCBI chr 7:98,645,238...98,677,253
Ensembl chr 7:98,645,182...98,677,248 		JBrowse link
G Cdk4 cyclin-dependent kinase 4 IEP mRNA:increased expression:lung RGD PMID:18082050 RGD:2289663 NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403 		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 chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator IEP protein:increased expression:cerebral cortex (rat) RGD PMID:19107989 RGD:8662854 NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034 		JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO mRNA, protein:increased expression:lung RGD PMID:20220550 RGD:4145114 NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO
IEP		 mRNA, protein:increased expression:liver, lung
mRNA, protein:increased expression:liver, lung (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:24893714 PMID:15123765 PMID:8267628 RGD:4892073, RGD:2307076 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Edn1 endothelin 1 IEP protein:altered expression:lung (rat) RGD PMID:20589171 RGD:4144857 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Fadd Fas associated via death domain IDA protein:increased expression:thalamus RGD PMID:19107989 RGD:8662854 NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653 		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 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Got1 glutamic-oxaloacetic transaminase 1 IEP protein:increased expression:brain (rat) RGD PMID:20049628 RGD:13504857 NCBI chr 1:242,357,293...242,381,535
Ensembl chr 1:242,357,306...242,380,633 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased expression:lung (mouse) RGD PMID:20237791 RGD:4145449 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Igf1 insulin-like growth factor 1 severity ISO human protein in a rat model RGD PMID:17697625 RGD:12904925 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 IEP mRNA:increased expression:lung RGD PMID:16288470 RGD:1626492 NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937 		JBrowse link
G Il18 interleukin 18 IDA RGD PMID:19672068 RGD:4889402 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il6 interleukin 6 IEP RGD PMID:20663297 RGD:4143252 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Irak4 interleukin-1 receptor-associated kinase 4 ISO RGD PMID:15622543 RGD:7495804 NCBI chr 7:125,682,502...125,708,294
Ensembl chr 7:125,682,488...125,717,837 		JBrowse link
G Mc1r melanocortin 1 receptor ISO mRNA:increased expression:lung (mouse) RGD PMID:8110467 RGD:6484136 NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192 		JBrowse link
G Mc2r melanocortin 2 receptor ISO mRNA:increased expression:lung (mouse) RGD PMID:8110467 RGD:6484136 NCBI chr18:62,001,980...62,015,567
Ensembl chr18:62,004,948...62,015,488 		JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP protein:decreased expression, decreased activity:lung RGD PMID:15128910 RGD:8547972 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		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
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
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 chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049
Ensembl chr17:10,826,032...10,827,049 		JBrowse link
G Mt2A metallothionein 2A ISO mRNA:increased expression:lung (mouse) RGD PMID:8110467 RGD:6484136 NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784 		JBrowse link
G Mt3 metallothionein 3 IEP RGD PMID:15680347 RGD:9686051 NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP mRNA, protein:decreased expression:lung RGD PMID:17937862 RGD:2292125 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 IDA RGD PMID:21551015 RGD:11035211 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		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 chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		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 chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
G Pdpn podoplanin IEP protein:increased tyrosine nitration:lung RGD PMID:12922978 RGD:1302251 NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656 		JBrowse link
G Plau plasminogen activator, urokinase IEP mRNA, protein:altered expression:lung (rat) RGD PMID:19099788 RGD:4143526 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Plcd1 phospholipase C, delta 1 IEP protein:altered localization RGD PMID:12850505 RGD:1299008 NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186 		JBrowse link
G Scgb1a1 secretoglobin family 1A member 1 ISO mRNA:decreased expression:epithelial cell RGD PMID:9555576 RGD:5144215 NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610 		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 chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685 		JBrowse link
G Sftpb surfactant protein B IEP
ISO		 mRNA:increased expression:lung RGD PMID:11472975 PMID:10502556 RGD:4143429, RGD:4143438 NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436 		JBrowse link
G Sftpc surfactant protein C IEP mRNA:increased expression:lung RGD PMID:11472975 RGD:4143429 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777 		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 chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927 		JBrowse link
G Sod2 superoxide dismutase 2 IEP RGD PMID:2001291 RGD:729952 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Sod3 superoxide dismutase 3 ISO RGD PMID:16100289 RGD:1581277 NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990 		JBrowse link
G Tacr1 tachykinin receptor 1 ISO RGD PMID:19633070 RGD:5147816 NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733 		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 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 IEP protein:increased expression:lung RGD PMID:15128910 RGD:8547972 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664 		JBrowse link
G Tnc tenascin C ISO protein:increased expression:lung RGD PMID:17001473 RGD:4889566 NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:8679214 RGD:10449454 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:10781441 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		JBrowse link
G Ttpa alpha tocopherol transfer protein IEP mRNA:decreased expression:liver RGD PMID:12448818 RGD:1600432 NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073 		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 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Elane elastase, neutrophil expressed treatment IMP RGD PMID:11104832 RGD:10450581 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Fgf2 fibroblast growth factor 2 IMP RGD PMID:12626345 RGD:11567262 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:23475767 RGD:10755753 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Mir21 microRNA 21 exacerbates
ameliorates		 IMP
IDA		 RGD PMID:28627345 PMID:31537223 RGD:41404708, RGD:41404709 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:25760549 RGD:13204816 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO RGD PMID:16678022 RGD:10769360 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557 		JBrowse link
G Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 ISO RGD PMID:16678022 RGD:10769360 NCBI chr17:30,909,482...30,938,725
Ensembl chr17:30,909,187...30,938,320 		JBrowse link
G Pdgfb platelet derived growth factor subunit B IEP mRNA:increased expression:lung: RGD PMID:2696512 RGD:10449500 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Ptch1 patched 1 IEP mRNA, protein:increased expression:lung RGD PMID:22641469 RGD:12859031 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Shh sonic hedgehog signaling molecule IEP mRNA, protein:increased expression:lung RGD PMID:22641469 RGD:12859031 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Xdh xanthine dehydrogenase IEP RGD PMID:2549869 RGD:13209004 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		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 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II beta ISO ClinVar Annotator: match by term: Hyperventilation ClinVar PMID:25741868 PMID:28492532 PMID:29100089 PMID:30842224 PMID:31036916 More... NCBI chr14:80,845,206...80,934,172
Ensembl chr14:80,845,238...80,933,994 		JBrowse link
G Vav3 vav guanine nucleotide exchange factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21115475 NCBI chr 2:197,011,901...197,354,321
Ensembl chr 2:197,011,831...197,354,321 		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 chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377 		JBrowse link
G Dctn1 dynactin subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19136952 NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815 		JBrowse link
G Lep leptin ISO Obesity Hypoventilation Syndrome RGD PMID:16179823 RGD:5128870 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Phox2b paired-like homeobox 2b ISO RGD PMID:14566559 PMID:12640453 RGD:1599147, RGD:1599148 NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978 		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 chr10:54,732,875...54,738,102
Ensembl chr10:54,732,469...54,738,075 		JBrowse link
G Actb actin, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877 		JBrowse link
G Adk adenosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510 		JBrowse link
G Ahcy adenosylhomocysteinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr 3:143,569,134...143,584,359
Ensembl chr 3:143,569,094...143,584,393 		JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family, member L1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr 4:123,059,989...123,106,471
Ensembl chr 4:123,060,008...123,106,465 		JBrowse link
G Aldob aldolase, fructose-bisphosphate B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr 5:63,889,045...63,902,086
Ensembl chr 5:63,889,046...63,902,116 		JBrowse link
G Apoa1 apolipoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18258771 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Asl argininosuccinate lyase IEP protein:increased activity:brain (rat) RGD PMID:20567615 RGD:4110824 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662 		JBrowse link
G Ass1 argininosuccinate synthase 1 IEP protein:increased activity:brain (rat) RGD PMID:20567615 RGD:4110824 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Atf4 activating transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14604972 NCBI chr 7:111,804,135...111,806,457
Ensembl chr 7:111,804,183...111,806,446 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha IEP protein:decreased expression:gastrocnemius (rat) RGD PMID:22401655 RGD:13703058 NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794 		JBrowse link
G Atp5f1b ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16553631 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Car9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16954440 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838 		JBrowse link
G Casp3 caspase 3 IEP RGD PMID:18466900 RGD:2293315 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casr calcium-sensing receptor IMP RGD PMID:22098336 RGD:7205678 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:plasma (rat) RGD PMID:20813992 RGD:8549511 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cpa2 carboxypeptidase A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr 4:59,160,357...59,183,677
Ensembl chr 4:59,160,357...59,183,674 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A treatment IEP mRNA:decreased expression:left ventricle myocardium (rat) RGD PMID:33310031 RGD:329955450 NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055 		JBrowse link
G Crp C-reactive protein ISO associated with Influenza RGD PMID:21199168 RGD:5131285 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Cs citrate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421 		JBrowse link
G Dgkz diacylglycerol kinase zeta IEP protein:decreased dimerization:hippocampus (rat) RGD PMID:24893663 RGD:9590077 NCBI chr 3:77,904,149...77,946,114
Ensembl chr 3:77,904,150...77,946,099 		JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12468449 NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766 		JBrowse link
G Esd esterase D ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr15:50,043,634...50,063,134
Ensembl chr15:50,043,632...50,063,144 		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:5,083,635...5,100,293
Ensembl chr  X:5,083,617...5,100,284 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:20862257 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Gpx3 glutathione peroxidase 3 IEP protein:increased expression:plasma RGD PMID:24842778 RGD:401827909 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B treatment IEP associated with Hypercapnia RGD PMID:24718106 RGD:13210749 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279 		JBrowse link
G Hp haptoglobin IEP protein:decreased expression:plasma RGD PMID:3094379 RGD:1626356 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Hsf1 heat shock transcription factor 1 IEP protein:increased expression:gastric mucosa (rat) RGD PMID:22156356 RGD:10402813 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011 		JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18258771 NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240
Ensembl chr20:3,856,006...3,873,240 		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 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A IEP RGD PMID:16362404 RGD:1624392 NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928 		JBrowse link
G Il4r interleukin 4 receptor ISO RGD PMID:19380795 RGD:4890390 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 IEP mRNA:decreased expression:hippocampus RGD PMID:28072885 RGD:13793382 NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491 		JBrowse link
G Jak1 Janus kinase 1 IEP mRNA, protein:increased expression:lung RGD PMID:14703438 RGD:150527843 NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926 		JBrowse link
G Jak3 Janus kinase 3 IEP protein:increased expression:lung RGD PMID:14703438 RGD:150527843 NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Kcnab1 potassium voltage-gated channel subfamily A regulatory beta subunit 1 ISO mRNA:decreased expression:carotid body (mouse) RGD PMID:15890701 RGD:9743958 NCBI chr 2:149,137,025...149,603,540
Ensembl chr 2:149,137,041...149,603,534 		JBrowse link
G Kdm3a lysine demethylase 3A IEP mRNA:increased expression:multiple (rat) RGD PMID:18538129 RGD:9586363 NCBI chr 4:103,630,907...103,675,073
Ensembl chr 4:103,630,908...103,675,073 		JBrowse link
G Mb myoglobin IDA RGD PMID:12530625 RGD:1582429 NCBI chr 7:108,759,903...108,767,134
Ensembl chr 7:108,759,904...108,767,383 		JBrowse link
G Mme membrane metallo-endopeptidase treatment IEP
ISO		 RGD PMID:11557598 PMID:11557598 RGD:13801041, RGD:13801041 NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792 		JBrowse link
G Mpo myeloperoxidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8552434 NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I treatment IEP associated with obesity; mtDNA:decreased expression:left ventricle myocardium (rat) RGD PMID:33310031 RGD:329955450 NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II treatment IEP associated with obesity; mtDNA:decreased expression:left ventricle myocardium (rat) RGD PMID:33310031 RGD:329955450 NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 treatment IEP associated with obesity; mtDNA:decreased expression:left ventricle myocardium (rat) RGD PMID:33310031 RGD:329955450 NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 treatment IEP associated with obesity; mtDNA:decreased expression:left ventricle myocardium (rat) RGD PMID:33310031 RGD:329955450 NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942 		JBrowse link
G Nap1l1 nucleosome assembly protein 1-like 1 IEP protein:decreased dimerization:hippocampus (rat) RGD PMID:24893663 RGD:9590077 NCBI chr 7:46,933,278...46,957,853
Ensembl chr 7:46,933,356...46,956,593 		JBrowse link
G Nap1l4 nucleosome assembly protein 1-like 4 IEP protein:decreased dimerization:hippocampus (rat) RGD PMID:24893663 RGD:9590077 NCBI chr 1:198,709,697...198,746,093
Ensembl chr 1:198,709,701...198,746,020 		JBrowse link
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr10:78,907,036...78,929,659
Ensembl chr10:78,906,083...78,916,408 		JBrowse link
G Nos1 nitric oxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10956627 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10956627 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11311734 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351 		JBrowse link
G Nppc natriuretic peptide C IEP protein:increased expression:lung, plasma RGD PMID:16677483 RGD:1642268 NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251 		JBrowse link
G Nrf1 nuclear respiratory factor 1 treatment IEP mRNA:decreased expression:left ventricle myocardium (rat) RGD PMID:33310031 RGD:329955450 NCBI chr 4:58,664,932...58,772,328
Ensembl chr 4:58,664,957...58,825,328 		JBrowse link
G Oxtr oxytocin receptor IMP RGD PMID:18655887 RGD:2304092 NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674 		JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) ISO CTD Direct Evidence: marker/mechanism CTD PMID:18258771 NCBI chr15:29,027,891...29,036,729
Ensembl chr15:29,027,894...29,037,283 		JBrowse link
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11311734 NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334 		JBrowse link
G Pgf placental growth factor IEP protein:decreased expression:serum RGD PMID:17240241 RGD:1642388 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685 		JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:25331496 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:11311734 PMID:24412703 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha treatment IEP mRNA, protein:decreased expression:left ventricle myocardium (rat) RGD PMID:33310031 RGD:329955450 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha treatment IEP mRNA:decreased expression:left ventricle myocardium (rat) RGD PMID:33310031 RGD:329955450 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:pulmonary artery RGD PMID:19710084 RGD:5135519 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Rad51 RAD51 recombinase IEP associated with Gliosarcoma;mRNA:decreased expression:tumor (rat) RGD PMID:21266355 RGD:9831171 NCBI chr 3:106,099,753...106,125,038
Ensembl chr 3:106,100,381...106,125,035 		JBrowse link
G Rps14 ribosomal protein S14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18258771 NCBI chr18:54,227,854...54,232,638
Ensembl chr18:54,227,854...54,233,166 		JBrowse link
G Rps2 ribosomal protein S2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18258771 NCBI chr10:13,747,316...13,749,165
Ensembl chr10:13,747,301...13,749,163 		JBrowse link
G Sardh sarcosine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874 		JBrowse link
G Serpinf1 serpin family F member 1 IEP mRNA, protein:decreased expression:retina (rat) RGD PMID:18331686 RGD:8655558 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 IEP mRNA:increased expression:lung RGD PMID:11259539 RGD:4889445 NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384 		JBrowse link
G Sod1 superoxide dismutase 1 treatment IDA RGD PMID:21453737 RGD:8657026 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18258771 PMID:19579223 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Sod3 superoxide dismutase 3 ISO RGD PMID:15375030 RGD:1581265 NCBI chr14:58,610,104...58,615,845
Ensembl chr14:58,609,958...58,615,990 		JBrowse link
G Stat5b signal transducer and activator of transcription 5B IEP mRNA:increased expression:perifornical nucleus RGD PMID:16730240 RGD:1601380 NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668 		JBrowse link
G Tfam transcription factor A, mitochondrial treatment IEP mRNA:decreased expression:left ventricle myocardium (rat) RGD PMID:33310031 RGD:329955450 NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO CTD Direct Evidence: therapeutic CTD PMID:23727623 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880 		JBrowse link
G Tkt transketolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19579223 NCBI chr16:5,723,764...5,748,702
Ensembl chr16:5,723,762...5,748,698 		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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:11929856 PMID:12472532 PMID:12603844 PMID:15327549 PMID:16172042 More... RGD:734912 NCBI chr 2:183,287,491...183,292,729
Ensembl chr 2:183,287,322...183,292,671 		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 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Abcb1b ATP-binding cassette, sub-family B member 1B IEP mRNA:increased expression:heart left ventricle RGD PMID:19323616 RGD:4890033 NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199 		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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Adora1 adenosine A1 receptor IMP RGD PMID:18787037 RGD:5129100 NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801 		JBrowse link
G Adrb1 adrenoceptor beta 1 susceptibility ISO associated with Hypertension;DNA:polymorphism: :p.R389G (human) RGD PMID:20948559 RGD:4145102 NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO RGD PMID:16061712 RGD:4891119 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Bmp7 bone morphogenetic protein 7 ISS OMIM:107650 MouseDO NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:plasma RGD PMID:20855682 RGD:4891459 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		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 chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377 		JBrowse link
G Crp C-reactive protein ISO RGD PMID:21493247 RGD:5131290 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO protein:increased expression:serum RGD PMID:15988615 RGD:4892031 NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093 		JBrowse link
G Cyba cytochrome b-245 alpha chain severity ISO mRNA, protein:increased expression:sputum, macrophage, neutrophil RGD PMID:20367952 RGD:4266589 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721 		JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chr  X:71,661,421...71,690,012
Ensembl chr  X:71,663,821...71,690,121 		JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136 		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 chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Ednra endothelin receptor type A IEP
ISO		 CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :-231G>A (human)		 CTD
RGD		 PMID:20083432 PMID:19358946 PMID:20083432 RGD:4145067, RGD:4892306 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049 		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 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide IEP protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621 		JBrowse link
G Ghsr growth hormone secretagogue receptor IEP protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865 		JBrowse link
G Hcrt hypocretin neuropeptide precursor ISO RGD PMID:15627867 RGD:1600936 NCBI chr10:85,689,979...85,691,214
Ensembl chr10:85,689,465...85,691,210 		JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:17511582 RGD:4145404 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hp haptoglobin ISO RGD PMID:19566894 RGD:5147384 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased secretion:plasma (human) RGD PMID:20004360 RGD:4145463 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Il10 interleukin 10 IEP RGD PMID:22143914 RGD:11049492 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		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 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum RGD PMID:20668869 RGD:4143251 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Lep leptin ISO protein:increased expression:plasma RGD PMID:18606530 RGD:5128817 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphism:exon:p.Q223R (human) RGD PMID:18204169 RGD:5128855 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		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 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:plasma RGD PMID:19336590 RGD:5131166 NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733 		JBrowse link
G Ngf nerve growth factor ISO RGD PMID:17667845 RGD:5144120 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		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 chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210 		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 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		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 chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Nrg1 neuregulin 1 susceptibility ISO DNA:SNP: :rs10097555(human) RGD PMID:25325441 RGD:405100236 NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO RGD PMID:17667845 RGD:5144120 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:21698055 RGD:6482785 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:endothelial cell RGD PMID:18413499 RGD:4891909 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:monocyte RGD PMID:17013605 RGD:2298862 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: SLEEP APNEA/HYPOPNEA SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:18330639 RGD:4144837 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Sftpb surfactant protein B ISO protein:decreased expression:serum: RGD PMID:25953386 RGD:151667446 NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436 		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 chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384 		JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Obstructive sleep apnea syndrome ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064 		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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:19148690 RGD:5131433 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591 		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 chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801 		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 More... NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		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 OMIM
ClinVar		 PMID:15015131 PMID:21480433 PMID:23806086 PMID:24033266 PMID:24088041 More... NCBI chr 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836 		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: Parkinsonism with alveolar hypoventilation and mental depression | ClinVar Annotator: match by term: Perry syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 PMID:16240349 More... RGD:5534575, RGD:5535748 NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815 		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: MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION | ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome
DNA:deletions: :		 CTD
ClinVar
RGD		 PMID:18414213 PMID:19896112 PMID:25741868 PMID:26350204 PMID:26467025 More... RGD:13450912 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027 		JBrowse link
G Nrxn1 neurexin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome		 CTD
ClinVar		 PMID:19896112 PMID:25741868 PMID:28492532 PMID:29924869 NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710 		JBrowse link
G Tcf4 transcription factor 4 ISO
ISS		 ClinVar Annotator: match by term: MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION | ClinVar Annotator: match by term: Pitt-Hopkins syndrome
OMIM:610954
ClinVar Annotator: match by term: MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION | ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:12032737 PMID:12848929 PMID:16199547 PMID:16531728 More... NCBI chr18:62,941,739...63,288,126
Ensembl chr18:62,943,782...63,284,425 		JBrowse link
Pitt-Hopkins-like syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo11 F-box protein 11 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:6,486,761...6,562,664
Ensembl chr 6:6,486,015...6,562,662 		JBrowse link
G Foxn2 forkhead box N2 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:6,018,653...6,065,226
Ensembl chr 6:6,018,879...6,064,278 		JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:22617343 PMID:28492532 NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785 		JBrowse link
G Gtf2a1l general transcription factor 2A subunit 1 like ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:5,752,814...5,834,797
Ensembl chr 6:5,752,823...5,836,472 		JBrowse link
G Kcnk12 potassium two pore domain channel subfamily K member 12 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:6,740,147...6,790,664
Ensembl chr 6:6,739,991...6,790,661 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521 		JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
G Nrxn1 neurexin 1 susceptibility ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17034946 PMID:17576681 PMID:18179900 More... NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710 		JBrowse link
G Ppp1r21 protein phosphatase 1, regulatory subunit 21 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:5,901,518...5,970,684
Ensembl chr 6:5,901,518...5,970,684 		JBrowse link
G Ston1 stonin 1 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar PMID:28492532 NCBI chr 6:5,843,186...5,892,557
Ensembl chr 6:5,843,185...5,892,449 		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 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Psen2 presenilin 2 ISO RGD PMID:10518543 RGD:1302521 NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174 		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 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Il13 interleukin 13 ISO associated with Bronchiolitis; protein:increased expression:serum RGD PMID:18312531 RGD:4145779 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression: : RGD PMID:20199725 RGD:4889143 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il4 interleukin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18410779 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:brochoalveolar lavage fluid RGD PMID:18391843 RGD:5130916 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Ms4a2 membrane spanning 4-domains A2 ISO DNA:polymorphism:CDS: E237G (human) RGD PMID:18269668 RGD:5131102 NCBI chr 1:208,440,179...208,448,716
Ensembl chr 1:208,440,361...208,448,310 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:SNPs::rs11536891,rs11536896,rs11536898(human) RGD PMID:20085599 RGD:5130731 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tlr9 toll-like receptor 9 ISO DNA:snp:promoter:g.-1486C>T rs187084 (human) RGD PMID:20085599 RGD:5130731 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796 		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 chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Sleep apnea syndrome ClinVar PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145 		JBrowse link
G Apoe apolipoprotein E ISO GAD PMID:15118671 RGD:1331525 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18555211 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Il18 interleukin 18 severity ISO RGD PMID:19187612 RGD:4889903 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il6r interleukin 6 receptor ISO RGD PMID:16983050 RGD:5128666 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Lepr leptin receptor ISO RGD PMID:11896492 RGD:5128873 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G S100b S100 calcium binding protein B IEP protein:increased expression:cerebral cortex, hippocampus, astrocyte RGD PMID:20002528 RGD:5508790 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma RGD PMID:20508215 RGD:4144827 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		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 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016 		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 5:4,379,862...4,434,133
Ensembl chr 5:4,379,999...4,433,570 		JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27545873 NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    Pathological Conditions, Signs and Symptoms 13532
      Signs and Symptoms 11084
        Respiratory Signs and Symptoms 249
          Apnea + 73
          Cheyne-Stokes Respiration 0
          Cough + 19
          Dyspnea + 11
          Hemoptysis 0
          Hoarseness + 3
          Hypercapnia 5
          Hyperoxia + 67
          Hyperventilation + 19
          Hypocapnia 0
          Hypoventilation + 13
          Hypoxia + 82
          Infantile Apparent Life-Threatening Event 0
          Mouth Breathing 0
          Pulmonary Hemorrhage + 2
          Respiratory Sounds + 8
          Sneezing + 2
          Tachypnea + 0
paths to the root