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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:Dyssomnias
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Accession:DOID:9002111 term browser browse the term
Definition:A broad category of sleep disorders characterized by either hypersomnolence or insomnia. The three major subcategories include intrinsic (i.e., arising from within the body) (SLEEP DISORDERS, INTRINSIC), extrinsic (secondary to environmental conditions or various pathologic conditions), and disturbances of circadian rhythm. (From Thorpy, Sleep Disorders Medicine, 1994, p187)
Synonyms:exact_synonym: Adjustment Sleep Disorder;   Adjustment Sleep Disorders;   Dyssomnia;   Environmental Sleep Disorder;   Environmental Sleep Disorders;   Extrinsic Sleep Disorder;   Extrinsic Sleep Disorders;   Limit Setting Sleep Disorder;   Limit-Setting Sleep Disorders;   Nocturnal Eating Drinking Syndrome;   Nocturnal Eating-Drinking Syndromes
 primary_id: MESH:D020920;   RDO:0006586
For additional species annotation, visit the Alliance of Genome Resources.


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Dyssomnias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rai1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19752160 NCBI chrNW_004936741:1,332,353...1,408,116 JBrowse link
advanced sleep phase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aanat aralkylamine N-acetyltransferase ISO DNA:missense mutation:cds:p.A129T(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12736803 RGD:1300232 NCBI chrNW_004936594:1,556,303...1,559,198 JBrowse link
G Bhlhe40 basic helix-loop-helix family member e40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chrNW_004936577:4,316,099...4,321,193 JBrowse link
G Cry1 cryptochrome circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936492:7,929,138...7,994,797 JBrowse link
G Nfil3 nuclear factor, interleukin 3 regulated ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chrNW_004936796:367,461...369,469 JBrowse link
G Per2 period circadian regulator 2 ISO familial advanced sleep-phase syndrome, OMIM:604348, DNA:point mutation:exon:S662G RGD PMID:11232563 RGD:1600411 NCBI chrNW_004936525:221,601...263,284 JBrowse link
G Per3 period circadian regulator 3 ISO DNA:missense mutations:cds:multiple (human) RGD PMID:11306557 RGD:1358557 NCBI chrNW_004936623:2,291,211...2,362,693 JBrowse link
G Rorc RAR related orphan receptor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chrNW_004936580:1,997,640...2,020,649 JBrowse link
advanced sleep phase syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csnk1d casein kinase 1 delta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936594:5,720,887...5,743,206 JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Advanced sleep phase syndrome 1 OMIM
ClinVar
PMID:11232563 PMID:25741868 NCBI chrNW_004936525:221,601...263,284 JBrowse link
G Per3 period circadian regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936623:2,291,211...2,362,693 JBrowse link
advanced sleep phase syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csnk1d casein kinase 1 delta ISO ClinVar Annotator: match by term: Advanced sleep phase syndrome 2 OMIM
ClinVar
PMID:15800623 PMID:23636092 NCBI chrNW_004936594:5,720,887...5,743,206 JBrowse link
advanced sleep phase syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Per3 period circadian regulator 3 ISO ClinVar Annotator: match by term: Advanced sleep phase syndrome 3 OMIM
ClinVar
PMID:25741868 PMID:26903630 NCBI chrNW_004936623:2,291,211...2,362,693 JBrowse link
Advanced Sleep Phase Syndrome 4, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timeless timeless circadian regulator ISO OMIM NCBI chrNW_004936646:780,021...792,856 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:8747854 PMID:22328086 PMID:25741868 PMID:28492532 NCBI chrNW_004936659:520,181...565,496 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 chrNW_004936733:306,400...347,161 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 chrNW_004936550:2,983,172...3,032,222 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 chrNW_004936659:506,460...510,752 JBrowse link
G P2ry11 purinergic receptor P2Y11 ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chrNW_004936659:503,661...506,327 JBrowse link
G Ppan peter pan homolog ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chrNW_004936659:499,447...503,316 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 chrNW_004936728:653,654...702,433 JBrowse link
G Nos3 nitric oxide synthase 3 ISO associated with heart failure; protein:decreased expression:serum RGD PMID:16806535 RGD:4892059 NCBI chrNW_004936527:6,427,147...6,445,770 JBrowse link
G Tac1 tachykinin precursor 1 ISO RGD PMID:18420958 RGD:2304275 NCBI chrNW_004936585:2,932,783...2,941,141 JBrowse link
G Tacr1 tachykinin receptor 1 ISO RGD PMID:18420958 RGD:2304275 NCBI chrNW_004936556:1,266,621...1,421,271 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 chrNW_004936492:11,315,929...11,317,166 JBrowse link
G Bdnf brain derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:25741868 NCBI chrNW_004936540:5,530,081...5,582,765 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 chrNW_004936530:1,744,216...1,766,602 JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9497256 NCBI chrNW_004936518:4,291,391...4,310,752 JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chrNW_004936492:11,342,566...11,412,323 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:14709596 More... NCBI chrNW_004936482:8,972,433...8,975,284 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 chrNW_004936617:2,927,185...2,980,594 JBrowse link
G Tlx3 T cell leukemia homeobox 3 ISO OMIM:209880 MouseDO NCBI chrNW_004936609:3,772,432...3,774,554 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 chrNW_004936492:11,315,929...11,317,166 JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:14532329 NCBI chrNW_004936492:11,342,566...11,412,323 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 chrNW_004936482:8,972,433...8,975,284 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 chrNW_004936769:1,134,076...1,171,040 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 chrNW_004936600:4,505,280...4,507,934 JBrowse link
delayed sleep phase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aanat aralkylamine N-acetyltransferase susceptibility ISO ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to ClinVar
OMIM
PMID:12736803 NCBI chrNW_004936594:1,556,303...1,559,198 JBrowse link
G Cry1 cryptochrome circadian regulator 1 susceptibility ISO ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to ClinVar
OMIM
PMID:28388406 PMID:32538895 NCBI chrNW_004936492:7,929,138...7,994,797 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 chrNW_004936757:1,642,122...1,646,499 JBrowse link
G Prnp prion protein ISO ClinVar Annotator: match by term: Fatal familial insomnia OMIM
ClinVar
PMID:1351274 PMID:1404799 PMID:1439789 PMID:1469441 PMID:1671440 More... NCBI chrNW_004936485:14,104,829...14,118,614 JBrowse link
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 chrNW_004936530:1,744,216...1,766,602 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 chrNW_004936513:10,607,617...10,620,403 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 chrNW_004936629:242,876...246,806 JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18820697 NCBI chrNW_004936629:246,876...255,537 JBrowse link
G Hcrt hypocretin neuropeptide precursor no_association ISO DNA:polymorphism:5' UTR:no association with either -909C-T polymorphism or -22T allele (aka 3250T allele)
OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250
early-onset narcolepsy; DNA:transversion:CDS:amino acid L16R; mutation only found in a single case
DNA:polymorphism:5' UTR:3250C/T, all patients found heterozygous for the 3250T allele
RGD
MouseDO
PMID:10973318 PMID:11148249 PMID:11723284 RGD:1600919 RGD:1600922 RGD:1600923 NCBI chrNW_004936490:17,007,001...17,008,363 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 chrNW_004936476:5,838,663...5,933,174 JBrowse link
G LOC101963197 HLA class II histocompatibility antigen, DP beta 1 chain susceptibility ISO DNA:polymorphisms, haplotypes: :multiple (human) RGD PMID:25574827 RGD:150429810 NCBI chrNW_004936476:25,730,800...25,741,089 JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936723:1,070,071...1,112,487 JBrowse link
G P2ry11 purinergic receptor P2Y11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21170044 NCBI chrNW_004936659:503,661...506,327 JBrowse link
G Penk proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chrNW_004936496:3,016,247...3,021,726 JBrowse link
G Socs2 suppressor of cytokine signaling 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chrNW_004936507:10,013,982...10,015,480 JBrowse link
G Tac1 tachykinin precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chrNW_004936585:2,932,783...2,941,141 JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:2845442 NCBI chrNW_004936602:623,542...626,337 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 chrNW_004936490:17,007,001...17,008,363 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 chrNW_004936723:1,070,071...1,112,487 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 subfamily B member 1 ISO mRNA:increased expression:heart left ventricle, liver RGD PMID:19323616 RGD:4890033 NCBI chrNW_004936763:1,225,355...1,308,257 JBrowse link
G Adora1 adenosine A1 receptor ISO RGD PMID:18787037 RGD:5129100 NCBI chrNW_004936567:1,430,128...1,508,626 JBrowse link
G Adrb1 adrenoceptor beta 1 susceptibility ISO associated with Hypertension;DNA:polymorphism: :p.R389G (human) RGD PMID:20948559 RGD:4145102 NCBI chrNW_004936486:4,400,467...4,401,588 JBrowse link
G Bdnf brain derived neurotrophic factor ISO RGD PMID:16061712 RGD:4891119 NCBI chrNW_004936540:5,530,081...5,582,765 JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO OMIM:107650 MouseDO NCBI chrNW_004936530:71,965...143,940 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 chrNW_004936490:253,279...259,947 JBrowse link
G Crp C-reactive protein ISO RGD PMID:21493247 RGD:5131290 NCBI chrNW_004936740:885,855...888,854 JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chrNW_004936547:479,261...504,757 JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chrNW_004936565:1,917,970...1,919,027 JBrowse link
G Edn1 endothelin 1 ISO protein:increased secretion:plasma (human)
protein:increased expression:myocardium (rat)
DNA:polymorphism:exon:p.K198N (human)
RGD PMID:17198911 PMID:18580062 PMID:19358946 RGD:4144901 RGD:4145067 RGD:4145075 NCBI chrNW_004936534:885,489...892,292 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 chrNW_004936535:1,950,117...2,005,786 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 chrNW_004936561:3,946,256...3,954,472 JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chrNW_004936602:3,037,862...3,044,863 JBrowse link
G Ghsr growth hormone secretagogue receptor ISO protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chrNW_004936593:268,736...273,623 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 chrNW_004936490:17,007,001...17,008,363 JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:17511582 RGD:4145404 NCBI chrNW_004936492:5,042,353...5,049,216 JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased secretion:plasma (human) RGD PMID:20004360 RGD:4145463 NCBI chrNW_004936659:616,570...627,172 JBrowse link
G Il10 interleukin 10 ISO RGD PMID:22143914 RGD:11049492 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:plasma (rat)
protein:decreased expression:serum
RGD PMID:19342292 PMID:20040038 RGD:4142829 RGD:4142845 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum RGD PMID:20668869 RGD:4143251 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Lep leptin ISO protein:increased expression:plasma RGD PMID:18606530 RGD:5128817 NCBI chrNW_004936479:15,394,966...15,411,334 JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphism:exon:p.Q223R (human) RGD PMID:18204169 RGD:5128855 NCBI chrNW_004936591:5,771,371...5,846,177 JBrowse link
G LOC101967032 cytochrome b-245 light chain severity ISO mRNA, protein:increased expression:sputum, macrophage, neutrophil RGD PMID:20367952 RGD:4266589 NCBI chrNW_004936641:1,036,967...1,044,954 JBrowse link
G LOC101968921 angiotensin-converting enzyme severity
susceptibility
ISO associated with Hypertension;DNA:polymorphism (human)
mRNA:increased expression:cardiac atrium
RGD PMID:19482546 PMID:20182789 PMID:24775918 RGD:11039043 RGD:4140915 RGD:4140917 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
G LOC101976500 haptoglobin ISO RGD PMID:19566894 RGD:5147384 NCBI chrNW_004936475:21,841,054...21,845,821 JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO protein:increased expression:palatopharyngeal muscle RGD PMID:19652426 PMID:20836084 RGD:5129212 RGD:5130877 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:plasma RGD PMID:19336590 RGD:5131166 NCBI chrNW_004936580:4,691,870...4,694,092 JBrowse link
G Ngf nerve growth factor ISO RGD PMID:17667845 RGD:5144120 NCBI chrNW_004936627:635,784...641,290 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 chrNW_004936538:4,052,277...4,097,051 JBrowse link
G Nos3 nitric oxide synthase 3 severity ISO protein:decreased expression, decreased phosphorylation:endothelial cells
DNA:polymorphism:exon: p. E298D (human)
protein:increased expression:endothelial cell
associated with heart failure; protein:decreased expression:serum
RGD PMID:16806535 PMID:18413499 PMID:18651156 PMID:20159829 RGD:4891909 RGD:4892051 RGD:4892052 RGD:4892059 NCBI chrNW_004936527:6,427,147...6,445,770 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 chrNW_004936504:10,960,069...11,056,834 JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO RGD PMID:17667845 RGD:5144120 NCBI chrNW_004936580:6,002,168...6,021,690 JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:21698055 RGD:6482785 NCBI chrNW_004936476:13,609,847...13,646,174 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:endothelial cell RGD PMID:18413499 RGD:4891909 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:monocyte RGD PMID:17013605 RGD:2298862 NCBI chrNW_004936599:3,800,142...3,810,583 JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: SLEEP APNEA/HYPOPNEA SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936801:1,185,615...1,298,416 JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:18330639 RGD:4144837 NCBI chrNW_004936543:1,032,543...1,040,956 JBrowse link
G Sftpb surfactant protein B ISO protein:decreased expression:serum: RGD PMID:25953386 RGD:151667446 NCBI chrNW_004936712:1,614,979...1,621,207 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:16215942 PMID:19014073 RGD:4889462 RGD:4889463 RGD:4889466 NCBI chrNW_004936538:6,205,268...6,239,062 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 chrNW_004936495:7,658,250...7,949,417 JBrowse link
G Tnf tumor necrosis factor susceptibility ISO protein:increased expression:plasma
DNA:polymorphism:promoter: c.-308G>A (human)
RGD PMID:14633242 PMID:19022640 PMID:20846669 RGD:4142857 RGD:4143435 RGD:4143442 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:19148690 RGD:5131433 NCBI chrNW_004936709:1,407,327...1,421,448 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 chrNW_004936629:242,876...246,806 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 chrNW_004936476:20,953,377...21,351,925 JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO protein:decreased expression:brain RGD PMID:21570342 RGD:6483334 NCBI chrNW_004936490:16,834,570...16,841,734 JBrowse link
G Drd3 dopamine receptor D3 ISO OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197 MouseDO NCBI chrNW_004936536:1,580,732...1,616,726 JBrowse link
G LOC101970831 serotransferrin ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16930377 PMID:23369046 RGD:7244177 NCBI chrNW_004936529:6,917,762...6,947,512 JBrowse link
G Meis1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17637780 PMID:28604731 NCBI chrNW_004936491:11,079,574...11,216,451 JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18464280 NCBI chrNW_004936493:7,060,747...7,065,276 JBrowse link
G Ptprd protein tyrosine phosphatase receptor type D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18660810 NCBI chrNW_004936539:2,564,815...3,369,975 JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO mRNA, protein:increased expression:pons, thalamus RGD PMID:21710629 RGD:5688410 NCBI chrNW_004936512:8,590,302...8,622,121 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 chrNW_004936578:3,168,599...3,179,369 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 chrNW_004936474:11,824,692...11,846,355 JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18555211 NCBI chrNW_004936707:1,784,338...1,913,401 JBrowse link
G Il18 interleukin 18 severity ISO RGD PMID:19187612 RGD:4889903 NCBI chrNW_004936612:2,306,963...2,325,086 JBrowse link
G Il6r interleukin 6 receptor ISO RGD PMID:16983050 RGD:5128666 NCBI chrNW_004936580:4,055,438...4,081,876 JBrowse link
G Lepr leptin receptor ISO RGD PMID:11896492 RGD:5128873 NCBI chrNW_004936591:5,771,371...5,846,177 JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma RGD PMID:20508215 RGD:4144827 NCBI chrNW_004936543:1,032,543...1,040,956 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 chrNW_004937098:46,572...65,304 JBrowse link
Sleep Deprivation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bace1 beta-secretase 1 ISO protein:increased expression:brain: RGD PMID:28455102 RGD:13782059 NCBI chrNW_004936542:2,514,297...2,539,088 JBrowse link
G Bdnf brain derived neurotrophic factor treatment ISO RGD PMID:25450575 RGD:10059355 NCBI chrNW_004936540:5,530,081...5,582,765 JBrowse link
G Ctsh cathepsin H ISO RGD PMID:17027151 RGD:2306498 NCBI chrNW_004936471:37,135,200...37,156,081 JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO mRNA:decreased expression:cerebral cortex RGD PMID:16923172 RGD:2313667 NCBI chrNW_004936612:2,395,452...2,437,592 JBrowse link
G Drd1 dopamine receptor D1 ISO protein:increased expression:hypothalamus RGD PMID:25433096 RGD:13506946 NCBI chrNW_004936609:790,647...795,187 JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO protein:hyperphosphorylation:prefrontal cortex, dentate gyrus; RGD PMID:22917528 RGD:10401259 NCBI chrNW_004936588:2,259,236...2,267,692 JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO protein:decreased expression:hippocampus (rat) RGD PMID:20237303 RGD:4107020 NCBI chrNW_004936587:3,406,055...3,806,956 JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased expression:hippocampus, cortex, amygdala: RGD PMID:21621560 RGD:11059509 NCBI chrNW_004936792:531,076...579,083 JBrowse link
G Jph3 junctophilin 3 ISO mRNA:increased expression:brain RGD PMID:18077435 RGD:6480426 NCBI chrNW_004936641:1,619,640...1,668,480 JBrowse link
G Map2k4 mitogen-activated protein kinase kinase 4 ISO mRNA, protein:decreased expression:mandible condylar process RGD PMID:23859770 RGD:7495827 NCBI chrNW_004936595:4,762,327...4,828,433 JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO RNA:increased expression:liver: RGD PMID:28860003 RGD:13781877 NCBI chrNW_004936479:17,682,070...17,716,713 JBrowse link
G Ngb neuroglobin ISO protein:decreased expression:brain RGD PMID:23262504 RGD:9743966 NCBI chrNW_004936488:6,094,089...6,098,876 JBrowse link
G Nrgn neurogranin ISO RGD PMID:7583240 RGD:9835425 NCBI chrNW_004936743:1,191,716...1,199,108 JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16343605 NCBI chrNW_004936487:10,745,465...10,758,812 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:brain RGD PMID:18077435 RGD:6480426 NCBI chrNW_004936481:3,821,564...3,828,086 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 chrNW_004936619:597,970...618,564 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 chrNW_004936471:39,791,633...40,193,049 JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20199424 NCBI chrNW_004936487:14,513,303...14,587,771 JBrowse link
G Meis1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28604731 NCBI chrNW_004936491:11,079,574...11,216,451 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO DNA:SNP:cds:p.G482S (rs8192678) (human) RGD PMID:22392034 RGD:6484261 NCBI chrNW_004936477:4,881,230...5,488,208 JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Insomnia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936529:802,753...810,270 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13774
    disease of anatomical entity 13507
      nervous system disease 11509
        Neurologic Manifestations 5608
          sleep disorder 138
            Dyssomnias 113
              Intrinsic Sleep Disorders + 90
              Sleep Deprivation 15
              advanced sleep phase syndrome + 9
Path 2
Term Annotations click to browse term
  disease 13774
    disease of anatomical entity 13507
      nervous system disease 11509
        central nervous system disease 10060
          brain disease 9437
            disease of mental health 6753
              sleep disorder 138
                Dyssomnias 113
                  Intrinsic Sleep Disorders + 90
                  Sleep Deprivation 15
                  advanced sleep phase syndrome + 9
paths to the root