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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
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 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:32581362 PMID:32875707 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 2:36,694,174...36,695,442
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 chr18:27,884,618...27,905,500
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:25741868 PMID:28492532 PMID:29751792 PMID:31464584 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: 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
ClinVar
OMIM
CTD
RGD
PMID:416211 PMID:1349196 PMID:1415224 PMID:1611188 PMID:1662391 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: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 7:21,904,153...21,906,003
Ensembl chr 7:21,903,126...21,905,993
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO
ISS
OMIM:209880
ClinVar Annotator: match by term: Congenital central hypoventilation
MouseDO
ClinVar
RGD
PMID:25741868 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
CTD
ClinVar
PMID:8696331 PMID:19556619 PMID:24033266 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 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209
JBrowse link
G Lbx1 ladybird homeobox 1 ISS OMIM:209880 MouseDO NCBI chr 1:244,083,873...244,085,690
Ensembl chr 1:244,083,873...244,085,690
JBrowse link
G Myo1h myosin IH ISS OMIM:209880 MouseDO NCBI chr12:42,248,942...42,300,103
Ensembl chr12:42,247,138...42,323,730
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: Ondine-Hirschsprung disease
DNA:duplication: :c.691_698dup (human)
DNA:repeats
CTD
ClinVar
RGD
PMID:10613788 PMID:12640453 PMID:14566559 PMID:14608649 PMID:14709596 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
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 7:21,904,153...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: Haddad syndrome OMIM
ClinVar
PMID:9536098 PMID:10613788 PMID:12640453 PMID:14709596 PMID:15024693 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 DNA:frameshift mutation, missense mutations (human)
ClinVar Annotator: match by term: Familial infantile myasthenia
ClinVar
OMIM
RGD
PMID:9073174 PMID:9536098 PMID:11172068 PMID:12548525 PMID:12756141 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:12548525 PMID:21786365 PMID:21948486 PMID:23292760 PMID:25741868 More... NCBI chr16:7,713,630...7,716,491 JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Familial infantile myasthenia 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 ISO ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome | ClinVar Annotator: match by term: PITT-HOPKINS-LIKE SYNDROME 1 | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 OMIM
ClinVar
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: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: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 Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Cough ClinVar PMID:25741868 PMID:28492532 PMID:29068549 NCBI chr 8:4,189,257...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 Kng2 kininogen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22693178 NCBI chr11:77,913,876...77,936,247
Ensembl chr11:77,909,612...78,002,971
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 chr13:62,164,080...62,169,770
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 5:4,379,999...4,433,243
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:71,661,415...71,690,158
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 chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
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:2943217 PMID:9536098 PMID:17576681 PMID:20433692 PMID:20800588 More... NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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
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 chr10:89,040,203...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 chr18:26,463,333...26,465,531
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 7:62,885,647...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
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
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 chr18:54,500,002...54,538,843
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 reductase 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:32581362 PMID:32875707 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...68,327,365
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 Crp C-reactive protein ISO associated with Influenza RGD PMID:21199168 RGD:5131285 NCBI chr13:85,131,635...85,175,179
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 chr18:26,463,333...26,465,531
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 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 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 chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
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 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 Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:pulmonary artery RGD PMID:19710084 RGD:5135519 NCBI chr13:62,164,080...62,169,770
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 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 ClinVar
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, subfamily B (MDR/TAP), 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
ISS
IEP
associated with Hypertension;DNA:polymorphism (human)
OMIM:107650
mRNA:increased expression:cardiac atrium
MouseDO
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
ISS
associated with Hypertension;DNA:polymorphism: :p.R389G (human)
OMIM:107650
MouseDO
RGD
PMID:20948559 RGD:4145102 NCBI chr 1:255,772,217...255,773,617
Ensembl chr 1:255,771,597...255,807,259
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO
ISS
OMIM:107650 MouseDO
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...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Crp C-reactive protein ISO
ISS
OMIM:107650 MouseDO
RGD
PMID:21493247 RGD:5131290 NCBI chr13:85,131,635...85,175,179
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 chr14:17,310,089...17,312,303
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:71,661,415...71,690,158
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 chr15:48,190,251...48,229,906
Ensembl chr15:48,189,073...48,304,136
JBrowse link
G Edn1 endothelin 1 ISO
ISS
IEP
DNA:polymorphism:exon:p.K198N (human)
OMIM:107650
protein:increased expression:myocardium (rat)
protein:increased secretion:plasma (human)
MouseDO
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 chr10:85,689,992...85,691,206
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
ISS
DNA:polymorphism:exon:p.Q223R (human)
OMIM:107650
MouseDO
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
ISS
protein:increased expression:palatopharyngeal muscle
OMIM:107650
MouseDO
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 2:174,635,559...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
ISS
DNA:polymorphism:exon: p. E298D (human)
OMIM:107650
protein:decreased expression, decreased phosphorylation:endothelial cells
associated with heart failure; protein:decreased expression:serum
protein:increased expression:endothelial cell
MouseDO
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 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 chr13:62,164,080...62,169,770
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...84,423,799
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
ISS
DNA:polymorphism, repeat:promoter, intron (human)
OMIM:107650
DNA:polymorphism:promoter (human)
MouseDO
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
ISS
DNA:polymorphism:promoter: c.-308G>A (human)
OMIM:107650
protein:increased expression:plasma
MouseDO
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:21480433 PMID:23806086 PMID:24033266 PMID:24088041 PMID:25741868 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 ClinVar
OMIM
RGD
PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 PMID:16505168 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: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome
DNA:deletions: :
CTD
ClinVar
RGD
PMID:18414213 PMID:19896112 PMID:25741868 PMID:26467025 PMID:27747449 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-like syndrome
CTD
ClinVar
PMID:19896112 PMID:28492532 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 ClinVar Annotator: match by term: Pitt-Hopkins syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
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...6,065,216
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 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 OMIM
ClinVar
PMID:2504536 PMID:9536098 PMID:16199547 PMID:17034946 PMID:17576681 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
ISS
MouseDO
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 5:4,379,999...4,433,243
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 18145
    Pathological Conditions, Signs and Symptoms 11282
      Signs and Symptoms 7227
        Respiratory Signs and Symptoms 233
          Apnea + 72
          Cheyne-Stokes Respiration 0
          Cough + 18
          Dyspnea + 8
          Hemoptysis 0
          Hoarseness + 3
          Hypercapnia 5
          Hyperoxia + 67
          Hyperventilation + 19
          Hypocapnia 0
          Hypoventilation + 13
          Hypoxia + 71
          Infantile Apparent Life-Threatening Event 0
          Mouth Breathing 0
          Pulmonary Hemorrhage + 2
          Respiratory Sounds + 8
          Sneezing + 2
          Tachypnea + 0
paths to the root