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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:Intrinsic Sleep Disorders
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Accession:DOID:9000166 term browser browse the term
Definition:Dyssomnias (i.e., insomnias or hypersomnias) associated with dysfunction of internal sleep mechanisms or secondary to a sleep-related medical disorder (e.g., sleep apnea, post-traumatic sleep disorders, etc.). (From Thorpy, Sleep Disorders Medicine, 1994, p187)
Synonyms:exact_synonym: Intrinsic Sleep Disorder;   Post-Traumatic Hypersomnia;   Posttraumatic Hypersomnia;   Posttraumatic Hypersomnias;   Sleep State Misperception;   post-traumatic hypersomnias;   sleep state misperceptions
 primary_id: MESH:D020919


show annotations for term's descendants           Sort by:
Intrinsic Sleep Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDN3 endothelin 3 ISO congenital central hypoventilation syndrome (CCHS), OMIM:209880;DNA:insertion:exon RGD PMID:8696331 RGD:1601002 NCBI chr17:59,418,667...59,448,382
Ensembl chr17:59,425,495...59,448,362 		JBrowse link
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy OMIM
ClinVar		 PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 More... NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844 		JBrowse link
Cataplexy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATXN3 ataxin 3 ISO RGD PMID:15128861 RGD:1358427 NCBI chr 7:113,611,566...113,645,835
Ensembl chr 7:113,608,783...113,645,841 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Cataplexy ClinVar PMID:10521290 PMID:11333381 PMID:11349231 PMID:11479732 PMID:11754101 More... NCBI chr 6:108,403,126...108,450,486
Ensembl chr 6:108,402,879...108,450,990 		JBrowse link
Cataplexy and Narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF3G eukaryotic translation initiation factor 3 subunit G ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr 2:68,966,221...68,970,648
Ensembl chr 2:68,966,222...68,970,614 		JBrowse link
G P2RY11 purinergic receptor P2Y11 ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr 2:68,962,996...68,966,224
Ensembl chr 2:68,962,939...68,966,498 		JBrowse link
G PPAN peter pan homolog ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr 2:68,958,906...68,962,657
Ensembl chr 2:68,958,906...68,962,657 		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:15701560 PMID:25741868 PMID:28492532 NCBI chr14:90,117,464...90,167,611
Ensembl chr14:90,117,464...90,167,611 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO associated with heart failure; protein:decreased expression:serum RGD PMID:16806535 RGD:4892059 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G TAC1 tachykinin precursor 1 ISO RGD PMID:18420958 RGD:2304275 NCBI chr 9:77,197,403...77,206,529
Ensembl chr 9:77,197,536...77,206,523 		JBrowse link
G TACR1 tachykinin receptor 1 ISO RGD PMID:18420958 RGD:2304275 NCBI chr 3:67,839,367...68,021,733
Ensembl chr 3:67,839,411...68,021,724 		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 5:81,357,431...81,360,335
Ensembl chr 5:81,358,969...81,359,673 		JBrowse link
G BDNF brain derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:11840487 PMID:25741868 PMID:28492532 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765 		JBrowse link
G EDN3 endothelin 3 ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:8696331 PMID:19556619 PMID:24033266 PMID:28492532 NCBI chr17:59,418,667...59,448,382
Ensembl chr17:59,425,495...59,448,362 		JBrowse link
G GDNF glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9497256 NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536 		JBrowse link
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr 5:81,385,401...81,460,569
Ensembl chr 5:81,385,435...81,463,451 		JBrowse link
G PHOX2B paired like homeobox 2B ISO ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: Ondine-Hirschsprung disease ClinVar PMID:10613788 PMID:12640453 PMID:14566559 PMID:14608649 PMID:15121777 More... NCBI chr 8:32,841,425...32,846,133
Ensembl chr 8:32,842,145...32,846,127 		JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:3078962 PMID:7824936 PMID:7835899 PMID:7907913 PMID:7915165 More... NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412 		JBrowse link
G TLX3 T cell leukemia homeobox 3 ISO OMIM:209880 MouseDO NCBI chr16:52,823,839...52,826,717
Ensembl chr16:52,823,657...52,826,804 		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 5:81,357,431...81,360,335
Ensembl chr 5:81,358,969...81,359,673 		JBrowse link
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:14532329 NCBI chr 5:81,385,401...81,460,569
Ensembl chr 5:81,385,435...81,463,451 		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:14709596 More... NCBI chr 8:32,841,425...32,846,133
Ensembl chr 8:32,842,145...32,846,127 		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 chr14:41,469,191...41,588,934
Ensembl chr14:41,470,916...41,559,445 		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 chr14:112,283,479...112,287,631
Ensembl chr14:112,284,261...112,286,216 		JBrowse link
fatal familial insomnia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEFL neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:30048013 RGD:127285394 NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112 		JBrowse link
G PRNP prion protein ISO ClinVar Annotator: match by term: Fatal familial insomnia ClinVar
OMIM		 PMID:1351274 PMID:1353341 PMID:1404799 PMID:1439789 PMID:1469441 More... NCBI chr17:13,694,195...13,705,126
Ensembl chr17:13,694,190...13,705,124 		JBrowse link
Kleine-Levin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRCH2 leucine rich repeats and calponin homology domain containing 2 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr  X:94,486,560...94,589,930
Ensembl chr  X:94,486,564...94,589,899 		JBrowse link
G MAP4 microtubule associated protein 4 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr13:30,633,049...30,805,183
Ensembl chr13:30,633,054...30,804,761 		JBrowse link
G MTMR8 myotubularin related protein 8 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr  X:50,931,199...51,077,796
Ensembl chr  X:50,935,136...51,077,766 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G PLXND1 plexin D1 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar PMID:28492532 NCBI chr13:68,946,658...68,996,625
Ensembl chr13:68,946,665...68,996,618 		JBrowse link
narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD40LG CD40 ligand ISO protein:decreased expression:serum (human) RGD PMID:21669245 RGD:11352261 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G CHKB choline kinase beta susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP, haplotype:3' utr:c.*257A>G (rs5770917) (human)		 CTD
RGD		 PMID:18820697 RGD:6483443 NCBI chr 5:151,638...155,176
Ensembl chr 5:151,638...155,176 		JBrowse link
G CPT1B carnitine palmitoyltransferase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18820697 NCBI chr 5:155,552...163,536
Ensembl chr 5:155,643...163,531 		JBrowse link
G CRADD CASP2 and RIPK1 domain containing adaptor with death domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 5:89,257,603...89,480,414
Ensembl chr 5:89,267,944...89,479,712 		JBrowse link
G HCRT hypocretin neuropeptide precursor no_association ISO mRNA:decreased expression:hypothalamus or protein:decreased expression:brain; in all samples examined
OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250
DNA:polymorphism:5' UTR:3250C/T, all patients found heterozygous for the 3250T allele
DNA:polymorphism:5' UTR:no association with either -909C-T polymorphism or -22T allele (aka 3250T allele)		 RGD
MouseDO		 PMID:10973318 PMID:11148249 PMID:11723284 RGD:1600919 RGD:1600922 RGD:1600923 NCBI chr12:20,588,597...20,589,991
Ensembl chr12:20,588,027...20,589,988 		JBrowse link
G HCRTR2 hypocretin receptor 2 ISO CTD Direct Evidence: marker/mechanism
OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250
Narcolepsy		 CTD
MouseDO
OMIA		 PMID:72649 PMID:562026 PMID:574310 PMID:945254 PMID:1393561 More... NCBI chr 7:25,830,544...25,929,640
Ensembl chr 7:25,826,298...25,929,702 		JBrowse link
G MOG myelin oligodendrocyte glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:22,595,565...22,606,137
Ensembl chr 7:22,595,510...22,610,817 		JBrowse link
G P2RY11 purinergic receptor P2Y11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21170044 NCBI chr 2:68,962,996...68,966,224
Ensembl chr 2:68,962,939...68,966,498 		JBrowse link
G PENK proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 4:75,525,497...75,530,403
Ensembl chr 4:75,525,555...75,530,876 		JBrowse link
G TAC1 tachykinin precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 9:77,197,403...77,206,529
Ensembl chr 9:77,197,536...77,206,523 		JBrowse link
G TRH thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:2845442 NCBI chr13:69,362,892...69,366,183
Ensembl chr13:69,364,093...69,365,493 		JBrowse link
Narcolepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HCRT hypocretin neuropeptide precursor ISO ClinVar Annotator: match by term: Narcolepsy 1 OMIM
ClinVar		 PMID:10973318 NCBI chr12:20,588,597...20,589,991
Ensembl chr12:20,588,027...20,589,988 		JBrowse link
Narcolepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MOG myelin oligodendrocyte glycoprotein ISO ClinVar Annotator: match by term: Narcolepsy 7 OMIM
ClinVar		 PMID:21907016 PMID:25741868 NCBI chr 7:22,595,565...22,606,137
Ensembl chr 7:22,595,510...22,610,817 		JBrowse link
obstructive sleep apnea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 ISO mRNA:increased expression:heart left ventricle, liver RGD PMID:19323616 RGD:4890033 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 severity
susceptibility		 ISO mRNA:increased expression:cardiac atrium
associated with Hypertension;DNA:polymorphism (human)		 RGD PMID:19482546 PMID:20182789 PMID:24775918 RGD:11039043 RGD:4140915 RGD:4140917 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G ADORA1 adenosine A1 receptor ISO RGD PMID:18787037 RGD:5129100 NCBI chr 9:113,835,279...113,875,899
Ensembl chr 9:113,835,921...113,872,365 		JBrowse link
G ADRB1 adrenoceptor beta 1 susceptibility ISO associated with Hypertension;DNA:polymorphism: :p.R389G (human) RGD PMID:20948559 RGD:4145102 NCBI chr14:124,400,330...124,401,739
Ensembl chr14:124,400,330...124,401,739 		JBrowse link
G AMCF-II alveolar macrophage-derived chemotactic factor-II ISO protein:increased expression:serum RGD PMID:15988615 RGD:4892031 NCBI chr 8:70,008,225...70,010,360
Ensembl chr 8:70,008,162...70,010,358 		JBrowse link
G BDNF brain derived neurotrophic factor ISO RGD PMID:16061712 RGD:4891119 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765 		JBrowse link
G BMP7 bone morphogenetic protein 7 ISO OMIM:107650 MouseDO NCBI chr17:57,567,770...57,676,516
Ensembl chr17:57,584,956...57,675,986 		JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO protein:increased expression:plasma RGD PMID:20855682 RGD:4891459 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026 		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 chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118 		JBrowse link
G CRP C-reactive protein, pentraxin-related ISO RGD PMID:21493247 RGD:5131290 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218 		JBrowse link
G CYBA cytochrome b-245 alpha chain severity ISO mRNA, protein:increased expression:sputum, macrophage, neutrophil RGD PMID:20367952 RGD:4266589 NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,162...1,021,420 		JBrowse link
G CYSLTR1 cysteinyl leukotriene receptor 1 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chr  X:62,380,778...62,407,736
Ensembl chr  X:62,380,780...62,456,689 		JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chr11:18,988,665...19,011,015
Ensembl chr11:18,987,174...19,011,015 		JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:myocardium (rat)
DNA:polymorphism:exon:p.K198N (human)
protein:increased secretion:plasma (human)		 RGD PMID:17198911 PMID:18580062 PMID:19358946 RGD:4144901 RGD:4145067 RGD:4145075 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348 		JBrowse link
G EDNRA endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :-231G>A (human)		 CTD
RGD		 PMID:19358946 PMID:20083432 RGD:4145067 RGD:4892306 NCBI chr 8:81,210,750...81,279,053
Ensembl chr 8:81,209,327...81,276,853 		JBrowse link
G GHRH growth hormone releasing hormone treatment ISO protein:decreased expression:plasma (human) RGD PMID:16750036 PMID:23815362 RGD:10401240 RGD:5687742 NCBI chr17:40,386,725...40,398,312
Ensembl chr17:40,387,344...40,397,857 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,445,992...66,452,917 		JBrowse link
G GHSR growth hormone secretagogue receptor ISO protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr13:110,981,465...111,006,149
Ensembl chr13:110,983,298...111,038,324 		JBrowse link
G HCRT hypocretin neuropeptide precursor ISO protein:decreased expression:plasma:independent of level of somnolence or obesity RGD PMID:15627867 RGD:1600936 NCBI chr12:20,588,597...20,589,991
Ensembl chr12:20,588,027...20,589,988 		JBrowse link
G HMOX1 heme oxygenase 1 ISO RGD PMID:17511582 RGD:4145404
G HP haptoglobin ISO RGD PMID:19566894 RGD:5147384 NCBI chr 6:14,980,382...14,985,245 JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased secretion:plasma (human) RGD PMID:20004360 RGD:4145463 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G IL10 interleukin 10 ISO RGD PMID:22143914 RGD:11049492 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378 		JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum RGD PMID:20668869 RGD:4143251 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G LEP leptin ISO protein:increased expression:plasma RGD PMID:18606530 RGD:5128817 NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323 		JBrowse link
G LEPR leptin receptor susceptibility ISO DNA:polymorphism:exon:p.Q223R (human) RGD PMID:18204169 RGD:5128855 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO protein:decreased expression:serum
protein:increased expression:plasma (rat)		 RGD PMID:19342292 PMID:20040038 RGD:4142829 RGD:4142845
G MMP9 matrix metallopeptidase 9 disease_progression ISO protein:increased expression:palatopharyngeal muscle RGD PMID:19652426 PMID:20836084 RGD:5129212 RGD:5130877 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G MUC1 mucin 1, cell surface associated ISO protein:increased expression:plasma RGD PMID:19336590 RGD:5131166 NCBI chr 4:94,626,317...94,631,194 JBrowse link
G NGF nerve growth factor ISO RGD PMID:17667845 RGD:5144120 NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,749...105,307,837 		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:18098375 PMID:18413499 RGD:4891909 RGD:4891935 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146 		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:16806535 PMID:18413499 PMID:18651156 PMID:20159829 RGD:4891909 RGD:4892051 RGD:4892052 RGD:4892059 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		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 chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,939...144,956,451 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO RGD PMID:17667845 RGD:5144120 NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981 		JBrowse link
G PLA2G7 phospholipase A2 group VII ISO RGD PMID:21698055 RGD:6482785 NCBI chr 7:41,488,152...41,531,383
Ensembl chr 7:41,486,598...41,531,345 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:endothelial cell RGD PMID:18413499 RGD:4891909 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:monocyte RGD PMID:17013605 RGD:2298862 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: SLEEP APNEA/HYPOPNEA SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:18330639 RGD:4144837 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		JBrowse link
G SFTPB surfactant protein B ISO protein:decreased expression:serum: RGD PMID:25953386 RGD:151667446 NCBI chr 3:59,101,940...59,113,442
Ensembl chr 3:59,101,981...59,112,396 		JBrowse link
G SLC6A4 solute carrier family 6 member 4 no_association ISO DNA:polymorphism:promoter (human)
DNA:polymorphism, repeat:promoter, intron (human)		 RGD PMID:15867649 PMID:16215942 PMID:19014073 RGD:4889462 RGD:4889463 RGD:4889466 NCBI chr12:46,285,995...46,328,377
Ensembl chr12:46,285,997...46,314,378 		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 1:193,909,563...194,352,550
Ensembl chr 1:193,911,965...194,264,354 		JBrowse link
G TNF tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter: c.-308G>A (human)
protein:increased expression:plasma		 RGD PMID:14633242 PMID:19022640 PMID:20846669 RGD:4142857 RGD:4143435 RGD:4143442 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:19148690 RGD:5131433 NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909 		JBrowse link
recurrent hypersomnia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHKB choline kinase beta susceptibility ISO DNA:SNP: :rs5770917 (human) RGD PMID:19404393 RGD:6483442 NCBI chr 5:151,638...155,176
Ensembl chr 5:151,638...155,176 		JBrowse link
restless legs syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTBD9 BTB domain containing 9 ISO CTD Direct Evidence: marker/mechanism
OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197		 CTD
MouseDO		 PMID:17637780 NCBI chr 7:33,723,077...34,122,673
Ensembl chr 7:33,720,014...34,124,458 		JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase ISO protein:decreased expression:brain RGD PMID:21570342 RGD:6483334 NCBI chr12:20,758,081...20,765,655
Ensembl chr12:20,758,083...20,765,553 		JBrowse link
G DRD3 dopamine receptor D3 ISO OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197 MouseDO NCBI chr13:145,769,294...145,817,997
Ensembl chr13:145,771,774...145,819,168 		JBrowse link
G MEIS1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17637780 PMID:28604731 NCBI chr 3:75,485,024...75,625,855
Ensembl chr 3:75,485,022...75,625,040 		JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18464280 NCBI chr 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418 		JBrowse link
G PTPRD protein tyrosine phosphatase receptor type D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18660810 NCBI chr 1:211,832,409...214,013,013
Ensembl chr 1:213,483,348...214,009,893 		JBrowse link
G SLC11A2 solute carrier family 11 member 2 ISO mRNA, protein:increased expression:pons, thalamus RGD PMID:21710629 RGD:5688410
G TF transferrin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16930377 PMID:23369046 RGD:7244177 NCBI chr13:74,930,655...74,970,599
Ensembl chr13:74,930,655...74,972,763 		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 chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646 		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 6:84,735,253...84,774,554 JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18555211 NCBI chr13:104,946,732...105,007,568 JBrowse link
G IL18 interleukin 18 severity ISO RGD PMID:19187612 RGD:4889903 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219 		JBrowse link
G IL6R interleukin 6 receptor ISO RGD PMID:16983050 RGD:5128666 NCBI chr 4:95,322,426...95,381,393
Ensembl chr 4:95,322,433...95,381,282 		JBrowse link
G LEPR leptin receptor ISO RGD PMID:11896492 RGD:5128873 NCBI chr 6:146,802,297...146,896,152
Ensembl chr 6:146,801,954...146,895,995 		JBrowse link
G S100B S100 calcium binding protein B ISO protein:increased expression:cerebral cortex, hippocampus, astrocyte RGD PMID:20002528 RGD:5508790
G SERPINE1 serpin family E member 1 ISO protein:increased expression:plasma RGD PMID:20508215 RGD:4144827 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		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 1:5,669...23,675 JBrowse link
Sleep Initiation and Maintenance Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADORA2A adenosine A2a receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20532872 NCBI chr14:49,467,186...49,485,845
Ensembl chr14:49,468,877...49,485,850 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Insomnia ClinVar PMID:11742254 PMID:12189488 PMID:25741868 PMID:28492532 NCBI chr 1:140,566,443...140,906,516
Ensembl chr 1:140,566,540...140,905,623 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20199424 NCBI chr 1:267,207,273...267,290,862
Ensembl chr 1:267,207,419...267,287,729 		JBrowse link
G MEIS1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28604731 NCBI chr 3:75,485,024...75,625,855
Ensembl chr 3:75,485,022...75,625,040 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO DNA:SNP:cds:p.G482S (rs8192678) (human) RGD PMID:22392034 RGD:6484261 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992 		JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Insomnia ClinVar PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474 NCBI chr13:31,715,686...31,723,200
Ensembl chr13:31,715,689...31,723,197 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17411
    disease of anatomical entity 14834
      nervous system disease 12898
        Neurologic Manifestations 9349
          sleep disorder 145
            Dyssomnias 120
              Intrinsic Sleep Disorders 97
                Sleep Initiation and Maintenance Disorders + 8
                periodic limb movement disorder 0
                recurrent hypersomnia + 21
                restless legs syndrome + 8
                sleep apnea + 63
Path 2
Term Annotations click to browse term
  disease 17411
    disease of anatomical entity 14834
      nervous system disease 12898
        central nervous system disease 11560
          brain disease 10848
            disease of mental health 7820
              sleep disorder 145
                Dyssomnias 120
                  Intrinsic Sleep Disorders 97
                    Sleep Initiation and Maintenance Disorders + 8
                    periodic limb movement disorder 0
                    recurrent hypersomnia + 21
                    restless legs syndrome + 8
                    sleep apnea + 63
paths to the root