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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 chr 3:183,980,458...184,004,958
Ensembl chr 3:163,562,520...163,585,093 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy		 OMIM
CTD
ClinVar		 PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 More... NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:19,440,611...19,486,659 		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 6:126,837,107...126,872,919
Ensembl chr 6:121,074,448...121,107,902 		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 chr18:3,654,237...3,699,853
Ensembl chr18:3,379,482...3,425,049 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO associated with Narcolepsy;DNA:polymorphism (human) RGD PMID:17297265 RGD:5147632 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		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 8:27,705,914...27,709,946
Ensembl chr 8:19,429,643...19,433,808 		JBrowse link
G Ppan peter pan homolog ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr 8:27,700,147...27,704,127
Ensembl chr 8:19,423,961...19,427,938 		JBrowse link
central sleep apnea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Apnea, central sleep ClinVar PMID:12548525 PMID:15701560 PMID:25741868 PMID:28492532 NCBI chr16:7,663,665...7,723,416
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 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Tac1 tachykinin, precursor 1 IMP RGD PMID:18420958 RGD:2304275 NCBI chr 4:36,645,344...36,653,548
Ensembl chr 4:35,679,704...35,687,178 		JBrowse link
G Tacr1 tachykinin receptor 1 IMP RGD PMID:18420958 RGD:2304275 NCBI chr 4:116,478,617...116,647,492
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 7:23,790,642...23,793,509
Ensembl chr 7:21,903,126...21,905,993 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar
RGD		 PMID:11840487 PMID:25741868 PMID:28492532 PMID:11840487 RGD:734643 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Edn3 endothelin 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome		 CTD
ClinVar		 PMID:8696331 PMID:19556619 PMID:24033266 PMID:28492532 NCBI chr 3:183,980,458...184,004,958
Ensembl chr 3:163,562,520...163,585,093 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GDNF-related condition		 CTD
ClinVar		 PMID:8896568 PMID:8896569 PMID:9215674 PMID:9359036 PMID:9497256 More... NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr 7:23,793,096...23,885,631
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Phox2b paired-like homeobox 2b ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome | ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: ONDINE CURSE, CONGENITAL | ClinVar Annotator: match by term: Ondine-Hirschsprung disease | ClinVar Annotator: match by term: Primary alveolar hypoventilation
OMIM:209880
DNA:duplication: :c.691_698dup (human)
DNA:repeats		 CTD
ClinVar
MouseDO
RGD		 PMID:10613788 PMID:12640453 PMID:14566559 PMID:14608649 PMID:15121777 More... RGD:11058834, RGD:12910557 NCBI chr14:41,420,011...41,424,527
Ensembl chr14:41,066,264...41,068,978 		JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome | ClinVar Annotator: match by term: Congenital central hypoventilation		 CTD
ClinVar		 PMID:3078962 PMID:7824936 PMID:7835899 PMID:7907913 PMID:7915165 More... NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Tlx3 T-cell leukemia, homeobox 3 ISS OMIM:209880 MouseDO NCBI chr10:18,293,932...18,296,551
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 7:23,790,642...23,793,509
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 7:23,793,096...23,885,631
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 1 | ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | ClinVar Annotator: match by term: Haddad syndrome ClinVar
OMIM		 PMID:9536098 PMID:10613788 PMID:12631670 PMID:12640453 PMID:14566559 More... NCBI chr14:41,420,011...41,424,527
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 chr12:47,908,716...47,916,668
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 1:254,033,009...254,034,826
Ensembl chr 1:244,083,873...244,085,690 		JBrowse link
fatal familial insomnia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir146a microRNA 146a susceptibility ISO miRNA:SNP: (rs57095329) (human) RGD PMID:29216791 RGD:126925194 NCBI chr10:28,349,996...28,350,090
Ensembl chr10:27,848,516...27,848,610 		JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:30048013 RGD:127285394 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Prnp prion protein ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fatal familial insomnia
OMIM:600072		 CTD
OMIM
ClinVar
MouseDO		 PMID:1351274 PMID:1353341 PMID:1404799 PMID:1439789 PMID:1469441 More... NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:119,177,485...119,203,937 		JBrowse link
Idiopathic Hypersomnolence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism (human) RGD PMID:19927159 RGD:5147660 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:19927159 RGD:5147660 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258 		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:111,091,728...111,174,225
Ensembl chr  X:111,092,814...111,174,210 		JBrowse link
G Map4 microtubule-associated protein 4 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr 8:109,925,233...110,064,370
Ensembl chr 8:109,925,575...110,064,362 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G Plxnd1 plexin D1 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:150,675,377...150,715,706
Ensembl chr 4:149,002,784...149,043,244 		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:140,164,341...140,176,057
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Chkb choline kinase beta susceptibility ISO DNA:SNP, haplotype:3' utr:c.*257A>G (rs5770917) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18820697 PMID:18820697 RGD:6483443 NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461 		JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18820697 NCBI chr 7:122,370,974...122,380,473
Ensembl chr 7:120,491,354...120,500,404 		JBrowse link
G Hcrt hypocretin neuropeptide precursor no_association ISS
ISO		 OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250
DNA:polymorphism:5' UTR:no association with either -909C-T polymorphism or -22T allele (aka 3250T allele)		 MouseDO
RGD		 PMID:11723284 RGD:1600923 NCBI chr10:86,190,289...86,191,524
Ensembl chr10:85,689,465...85,691,210 		JBrowse link
G Hcrtr2 hypocretin receptor 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250		 CTD
MouseDO		 PMID:17521418 NCBI chr 8:85,870,279...85,986,405
Ensembl chr 8:76,989,834...77,105,893 		JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:1,514,110...1,528,716
Ensembl chr20:1,513,239...1,523,474 		JBrowse link
G Penk proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 5:21,981,381...21,987,074
Ensembl chr 5:17,183,806...17,189,129 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:cds:multiple RGD PMID:11179016 RGD:5147861 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:multiple
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20711174 PMID:11179016 RGD:5147861 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms:cds:multiple (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20711174 PMID:11179016 RGD:5147861 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 susceptibility ISO DNA:polymorphisms, haplotypes: :multiple (human) RGD PMID:25574827 RGD:150429810 NCBI chr20:4,777,494...4,781,486
Ensembl chr20:4,774,650...4,780,618 		JBrowse link
G Socs2 suppressor of cytokine signaling 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 7:31,890,564...31,932,092
Ensembl chr 7:30,008,578...30,043,548 		JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 4:36,645,344...36,653,548
Ensembl chr 4:35,679,704...35,687,178 		JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:2845442 NCBI chr 4:126,299,236...126,301,762
Ensembl chr 4:124,742,111...124,744,637 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Narcolepsy 1		 OMIM
CTD
ClinVar		 PMID:10973318 NCBI chr10:86,190,289...86,191,524
Ensembl chr10:85,689,465...85,691,210 		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 chr20:1,514,110...1,528,716
Ensembl chr20:1,513,239...1,523,474 		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 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Abcb1b ATP-binding cassette, sub-family B member 1B IEP mRNA:increased expression:heart left ventricle RGD PMID:19323616 RGD:4890033 NCBI chr 4:26,197,706...26,280,156
Ensembl chr 4:25,242,798...25,325,199 		JBrowse link
G Ace angiotensin I converting enzyme severity
susceptibility		 ISO
IEP		 associated with Hypertension;DNA:polymorphism (human)
mRNA:increased expression:cardiac atrium 		RGD PMID:19482546 PMID:24775918 PMID:20182789 RGD:4140917, RGD:11039043, RGD:4140915 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Adora1 adenosine A1 receptor IMP RGD PMID:18787037 RGD:5129100 NCBI chr13:48,210,922...48,247,826
Ensembl chr13:45,658,872...45,695,801 		JBrowse link
G Adrb1 adrenoceptor beta 1 susceptibility ISO associated with Hypertension;DNA:polymorphism: :p.R389G (human) RGD PMID:20948559 RGD:4145102 NCBI chr 1:265,777,103...265,780,114
Ensembl chr 1:255,771,597...255,807,259 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO RGD PMID:16061712 RGD:4891119 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Bmp7 bone morphogenetic protein 7 ISS OMIM:107650 MouseDO NCBI chr 3:182,059,318...182,135,273
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 chr10:67,503,077...67,504,875
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 chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377 		JBrowse link
G Crp C-reactive protein ISO RGD PMID:21493247 RGD:5131290 NCBI chr13:87,694,062...87,695,978
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 chr14:17,594,959...17,596,417
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 chr19:67,396,143...67,404,214
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:75,734,281...75,762,873
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 chr15:54,599,043...54,638,314
Ensembl chr15:48,189,073...48,304,136 		JBrowse link
G Edn1 endothelin 1 ISO
IEP		 DNA:polymorphism:exon:p.K198N (human)
protein:increased expression:myocardium (rat)
protein:increased secretion:plasma (human)		 RGD PMID:18580062 PMID:19358946 PMID:17198911 RGD:4145075, RGD:4145067, RGD:4144901 NCBI chr17:22,660,799...22,666,687
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 chr19:47,137,360...47,207,961
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 3:166,412,763...166,432,519
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 4:148,421,315...148,431,128
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 2:112,196,158...112,201,666
Ensembl chr 2:110,268,489...110,271,865 		JBrowse link
G Hcrt hypocretin neuropeptide precursor ISO RGD PMID:15627867 RGD:1600936 NCBI chr10:86,190,289...86,191,524
Ensembl chr10:85,689,465...85,691,210 		JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:17511582 RGD:4145404 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Hp haptoglobin ISO RGD PMID:19566894 RGD:5147384 NCBI chr19:54,449,151...54,453,701
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 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Il10 interleukin 10 IEP RGD PMID:22143914 RGD:11049492 NCBI chr13:45,024,921...45,029,586
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 3:137,030,200...137,036,581
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 4:5,889,999...5,894,575
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 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphism:exon:p.Q223R (human) RGD PMID:18204169 RGD:5128855 NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO protein:increased expression:palatopharyngeal muscle RGD PMID:20836084 PMID:19652426 RGD:5129212, RGD:5130877 NCBI chr 3:174,103,474...174,111,434
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 2:176,933,312...176,938,497
Ensembl chr 2:174,635,995...174,640,733 		JBrowse link
G Ngf nerve growth factor ISO RGD PMID:17667845 RGD:5144120 NCBI chr 2:192,589,580...192,642,971
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 chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210 		JBrowse link
G Nos3 nitric oxide synthase 3 severity ISO DNA:polymorphism:exon: p. E298D (human)
protein:decreased expression, decreased phosphorylation:endothelial cells
associated with heart failure; protein:decreased expression:serum
protein:increased expression:endothelial cell		 RGD PMID:18651156 PMID:20159829 PMID:16806535 PMID:18413499 RGD:4892052, RGD:4892051, RGD:4892059, RGD:4891909 NCBI chr 4:11,686,088...11,706,604
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 chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Nrg1 neuregulin 1 susceptibility ISO DNA:SNP: :rs10097555(human) RGD PMID:25325441 RGD:405100236 NCBI chr16:65,954,084...67,007,484
Ensembl chr16:59,250,854...60,296,884 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO RGD PMID:17667845 RGD:5144120 NCBI chr 2:175,534,844...175,551,664
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 9:24,859,491...24,901,747
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 chr13:64,714,063...64,722,320
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 1:212,354,336...212,364,815
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 1:93,420,078...93,551,305
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 chr12:25,237,977...25,248,356
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 4:105,917,495...105,926,631
Ensembl chr 4:104,359,396...104,368,436 		JBrowse link
G Slc6a4 solute carrier family 6 member 4 no_association ISO DNA:polymorphism, repeat:promoter, intron (human)
DNA:polymorphism:promoter (human)		 RGD PMID:15867649 PMID:19014073 PMID:16215942 RGD:4889466, RGD:4889462, RGD:4889463 NCBI chr10:62,322,688...62,357,060
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 6:100,272,729...100,586,364
Ensembl chr 6:94,537,088...94,848,064 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter: c.-308G>A (human)
protein:increased expression:plasma		 RGD PMID:19022640 PMID:14633242 PMID:20846669 RGD:4143442, RGD:4142857, RGD:4143435 NCBI chr20:3,626,685...3,629,303
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 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591 		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 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461 		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
ISS		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:17637780 NCBI chr20:8,287,813...8,645,437
Ensembl chr20:8,288,711...8,643,960 		JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO protein:decreased expression:brain RGD PMID:21570342 RGD:6483334 NCBI chr10:86,011,504...86,018,063
Ensembl chr10:85,511,160...85,517,720 		JBrowse link
G Drd3 dopamine receptor D3 ISS OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197 MouseDO NCBI chr11:70,385,586...70,437,793
Ensembl chr11:56,879,689...56,940,596 		JBrowse link
G Gabrr3 gamma-aminobutyric acid type A receptor subunit rho3 ISO ClinVar Annotator: match by term: Restless legs ClinVar NCBI chr11:54,372,017...54,424,466
Ensembl chr11:40,902,812...40,955,263 		JBrowse link
G Meis1 Meis homeobox 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:17637780 PMID:28604731 NCBI chr14:93,155,426...93,294,373
Ensembl chr14:93,155,419...93,294,265 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18464280 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Ptprd protein tyrosine phosphatase, receptor type, D treatment ISO
IEP		 CTD Direct Evidence: marker/mechanism
protein:decreased expression:striatum (rat)		 CTD
RGD		 PMID:18660810 PMID:36053904 PMID:37633178 RGD:401976457, RGD:401976430 NCBI chr 5:95,093,221...97,415,498
Ensembl chr 5:90,048,966...92,369,396 		JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO mRNA, protein:increased expression:pons, thalamus RGD PMID:21710629 RGD:5688410 NCBI chr 7:133,381,878...133,429,921
Ensembl chr 7:131,503,081...131,540,145 		JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16930377 PMID:23369046 RGD:7244177 NCBI chr 8:112,668,667...112,695,376
Ensembl chr 8:103,767,995...103,816,511 		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 chr11:91,226,524...91,240,244
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 5:150,512,182...150,578,804
Ensembl chr 5:145,228,227...145,294,145 		JBrowse link
G Apoe apolipoprotein E ISO GAD PMID:15118671 RGD:1331525 NCBI chr 1:88,481,889...88,485,816
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 2:160,607,289...160,699,760
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Il18 interleukin 18 severity ISO RGD PMID:19187612 RGD:4889903 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il6r interleukin 6 receptor ISO RGD PMID:16983050 RGD:5128666 NCBI chr 2:177,582,020...177,646,705
Ensembl chr 2:175,298,686...175,347,536 		JBrowse link
G Lepr leptin receptor ISO RGD PMID:11896492 RGD:5128873 NCBI chr 5:121,409,735...121,593,201
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 chr20:12,372,345...12,381,159
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 chr12:25,237,977...25,248,356
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 1:65,136,420...65,153,515
Ensembl chr 1:56,463,618...56,510,016 		JBrowse link
G Tph2 tryptophan hydroxylase 2 IMP RGD PMID:30763168 PMID:28775068 RGD:597830069, RGD:597830156 NCBI chr 7:52,571,909...52,676,305
Ensembl chr 7:50,685,694...50,789,424 		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 chr20:13,315,270...13,332,802
Ensembl chr20:13,315,853...13,333,386 		JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO DNA:point mutation:exon:R192H
ClinVar Annotator: match by term: Insomnia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:11742254 PMID:12189488 PMID:25741868 PMID:28492532 PMID:12189488 RGD:1601268 NCBI chr 1:117,602,772...117,838,230
Ensembl chr 1:108,296,124...108,698,961 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A treatment IMP RGD PMID:20684606 RGD:401938599 NCBI chr15:56,360,647...56,428,703
Ensembl chr15:49,950,804...50,020,928 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20199424 NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899 		JBrowse link
G Meis1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28604731 NCBI chr14:93,155,426...93,294,373
Ensembl chr14:93,155,419...93,294,265 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO DNA:SNP:cds:p.G482S (rs8192678) (human) RGD PMID:22392034 RGD:6484261 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G RT1-Bb RT1 class II, locus Bb severity ISO DNA:polymorphism:cds:HLA-DQB1*0602 (human) RGD PMID:21292329 RGD:5147604 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        Neurologic Manifestations 10463
          sleep disorder 156
            Dyssomnias 132
              Intrinsic Sleep Disorders 105
                Sleep Initiation and Maintenance Disorders + 10
                periodic limb movement disorder 0
                recurrent hypersomnia + 23
                restless legs syndrome + 9
                sleep apnea + 67
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        central nervous system disease 12639
          brain disease 11857
            disease of mental health 8462
              sleep disorder 156
                Dyssomnias 132
                  Intrinsic Sleep Disorders 105
                    Sleep Initiation and Maintenance Disorders + 10
                    periodic limb movement disorder 0
                    recurrent hypersomnia + 23
                    restless legs syndrome + 9
                    sleep apnea + 67
paths to the root