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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

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show annotations for term's descendants           Sort by:
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_004955577:185,404...296,613
Ensembl chrNW_004955577:183,051...200,139 		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 CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.A129T(human)		 CTD
RGD		 PMID:12736803 RGD:1300232 NCBI chrNW_004955506:5,828,666...5,834,812
Ensembl chrNW_004955506:5,828,659...5,834,812 		JBrowse link
G Bhlhe40 basic helix-loop-helix family member e40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chrNW_004955421:8,463,337...8,468,877
Ensembl chrNW_004955421:8,463,018...8,468,877 		JBrowse link
G Cry1 cryptochrome circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955405:40,878,227...40,941,664
Ensembl chrNW_004955405:40,874,322...40,941,664 		JBrowse link
G Nfil3 nuclear factor, interleukin 3 regulated ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chrNW_004955515:908,313...910,159
Ensembl chrNW_004955515:908,477...909,868 		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_004955542:2,331,547...2,369,011
Ensembl chrNW_004955542:2,338,099...2,371,274 		JBrowse link
G Per3 period circadian regulator 3 ISO DNA:missense mutations:cds:multiple (human) RGD PMID:11306557 RGD:1358557 NCBI chrNW_004955486:5,058,602...5,101,480
Ensembl chrNW_004955486:5,059,773...5,101,637 		JBrowse link
G Rorc RAR related orphan receptor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chrNW_004955589:590,653...616,784
Ensembl chrNW_004955589:590,743...616,694 		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_004955506:904,659...936,293
Ensembl chrNW_004955506:904,660...935,330 		JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Advanced sleep phase syndrome 1 | ClinVar Annotator: match by term: PER2-related condition OMIM
ClinVar		 PMID:11232563 PMID:25741868 PMID:28492532 NCBI chrNW_004955542:2,331,547...2,369,011
Ensembl chrNW_004955542:2,338,099...2,371,274 		JBrowse link
G Per3 period circadian regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955486:5,058,602...5,101,480
Ensembl chrNW_004955486:5,059,773...5,101,637 		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_004955506:904,659...936,293
Ensembl chrNW_004955506:904,660...935,330 		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 | ClinVar Annotator: match by term: PER3-related condition OMIM
ClinVar		 PMID:25741868 PMID:26903630 PMID:28492532 NCBI chrNW_004955486:5,058,602...5,101,480
Ensembl chrNW_004955486:5,059,773...5,101,637 		JBrowse link
advanced sleep phase syndrome 4 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_004955458:3,999,143...4,029,523
Ensembl chrNW_004955458:3,997,725...4,029,766 		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 chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462 		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_004955438:14,405,415...14,443,457
Ensembl chrNW_004955438:14,405,643...14,440,009 		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_004955402:11,699,434...11,742,899
Ensembl chrNW_004955402:11,699,434...11,742,899 		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_004955495:1,452,806...1,456,834
Ensembl chrNW_004955495:1,451,454...1,457,216 		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 chrNW_004955556:650,290...695,135
Ensembl chrNW_004955556:650,279...693,276 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO associated with heart failure; protein:decreased expression:serum RGD PMID:16806535 RGD:4892059 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814 		JBrowse link
G Tac1 tachykinin precursor 1 ISO RGD PMID:18420958 RGD:2304275 NCBI chrNW_004955432:13,991,647...13,999,665
Ensembl chrNW_004955432:13,991,414...13,999,728 		JBrowse link
G Tacr1 tachykinin receptor 1 ISO RGD PMID:18420958 RGD:2304275 NCBI chrNW_004955424:10,614,340...10,761,872
Ensembl chrNW_004955424:10,614,340...10,761,872 		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_004955405:37,941,243...37,943,641
Ensembl chrNW_004955405:37,941,243...37,943,641 		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 chrNW_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588 		JBrowse link
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome ClinVar PMID:8696331 PMID:19556619 PMID:24033266 PMID:28492532 NCBI chrNW_004955445:215,910...238,153
Ensembl chrNW_004955445:215,859...237,760 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO ClinVar Annotator: match by term: GDNF-related condition ClinVar PMID:8896568 PMID:8896569 PMID:9215674 PMID:9359036 PMID:9497256 More... NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324 		JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chrNW_004955405:37,848,486...37,909,163
Ensembl chrNW_004955405:37,846,354...37,909,457 		JBrowse link
G Phox2b paired like homeobox 2B ISO 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 ClinVar PMID:10613788 PMID:12640453 PMID:14566559 PMID:14608649 PMID:15121777 More... NCBI chrNW_004955443:5,935,975...5,938,747
Ensembl chrNW_004955443:5,935,975...5,938,747 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome | ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:3078962 PMID:7824936 PMID:7835899 PMID:7907913 PMID:7915165 More... NCBI chrNW_004955546:1,221,995...1,252,147
Ensembl chrNW_004955546:1,221,995...1,253,946 		JBrowse link
G Tlx3 T cell leukemia homeobox 3 ISO OMIM:209880 MouseDO NCBI chrNW_004955408:24,103,123...24,105,292
Ensembl chrNW_004955408:24,102,996...24,105,292 		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_004955405:37,941,243...37,943,641
Ensembl chrNW_004955405:37,941,243...37,943,641 		JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:14532329 NCBI chrNW_004955405:37,848,486...37,909,163
Ensembl chrNW_004955405:37,846,354...37,909,457 		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 chrNW_004955443:5,935,975...5,938,747
Ensembl chrNW_004955443:5,935,975...5,938,747 		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_004955455:9,064,914...9,115,776
Ensembl chrNW_004955455:9,066,529...9,115,806 		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_004955485:9,003,329...9,005,987
Ensembl chrNW_004955485:9,003,329...9,005,989 		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 ISO ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to ClinVar PMID:12736803 NCBI chrNW_004955506:5,828,666...5,834,812
Ensembl chrNW_004955506:5,828,659...5,834,812 		JBrowse link
G Cry1 cryptochrome circadian regulator 1 susceptibility ISO ClinVar Annotator: match by term: CRY1-related condition | ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to OMIM
ClinVar		 PMID:25741868 PMID:28388406 PMID:28492532 PMID:32538895 NCBI chrNW_004955405:40,878,227...40,941,664
Ensembl chrNW_004955405:40,874,322...40,941,664 		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_004955403:47,946,413...47,951,734
Ensembl chrNW_004955403:47,946,353...47,952,026 		JBrowse link
G Prnp prion protein (Kanno blood group) ISO ClinVar Annotator: match by term: Fatal familial insomnia ClinVar
OMIM		 PMID:1351274 PMID:1353341 PMID:1404799 PMID:1439789 PMID:1469441 More... NCBI chrNW_004955415:15,442,313...15,454,644
Ensembl chrNW_004955415:15,442,313...15,454,644 		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_004955445:215,910...238,153
Ensembl chrNW_004955445:215,859...237,760 		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 chrNW_004955490:569,526...678,626
Ensembl chrNW_004955490:571,679...676,059 		JBrowse link
G Map4 microtubule associated protein 4 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chrNW_004955420:24,437,492...24,537,410 JBrowse link
G Mtmr8 myotubularin related protein 8 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chrNW_004955475:4,358,264...4,391,349 JBrowse link
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608 		JBrowse link
G Plxnd1 plexin D1 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955429:17,746,814...17,775,072
Ensembl chrNW_004955429:17,746,814...17,776,246 		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_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746 		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_004955413:33,588,375...33,592,054
Ensembl chrNW_004955413:33,588,600...33,591,758 		JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18820697 NCBI chrNW_004955413:33,578,734...33,588,055
Ensembl chrNW_004955413:33,578,355...33,588,674 		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
DNA:polymorphism:5' UTR:3250C/T, all patients found heterozygous for the 3250T allele
mRNA:decreased expression:hypothalamus or protein:decreased expression:brain; in all samples examined		 RGD
MouseDO		 PMID:10973318 PMID:11148249 PMID:11723284 RGD:1600919 RGD:1600922 RGD:1600923 NCBI chrNW_004955451:16,235,819...16,237,457
Ensembl chrNW_004955451:16,235,819...16,237,457 		JBrowse link
G Hcrtr2 hypocretin receptor 2 ISO CTD Direct Evidence: marker/mechanism
Narcolepsy
OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250		 CTD
OMIA
MouseDO		 PMID:72649 PMID:562026 PMID:574310 PMID:945254 PMID:1393561 More... NCBI chrNW_004955411:970,892...1,010,138 JBrowse link
G LOC102026469 HLA class II histocompatibility antigen, DP beta 1 chain susceptibility ISO DNA:polymorphisms, haplotypes: :multiple (human) RGD PMID:25574827 RGD:150429810 NCBI chrNW_004955437:1,655,092...1,666,552
Ensembl chrNW_004955437:1,635,538...1,669,042 		JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955583:136,077...150,597
Ensembl chrNW_004955583:136,077...150,649 		JBrowse link
G Penk proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chrNW_004955454:15,425,712...15,426,685
Ensembl chrNW_004955454:15,426,017...15,426,685 		JBrowse link
G Socs2 suppressor of cytokine signaling 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chrNW_004955405:30,349,956...30,623,849
Ensembl chrNW_004955405:30,366,866...30,375,468
Ensembl chrNW_004955405:30,366,866...30,375,468 		JBrowse link
G Tac1 tachykinin precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chrNW_004955432:13,991,647...13,999,665
Ensembl chrNW_004955432:13,991,414...13,999,728 		JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:2845442 NCBI chrNW_004955429:17,487,275...17,489,385 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_004955451:16,235,819...16,237,457
Ensembl chrNW_004955451:16,235,819...16,237,457 		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_004955583:136,077...150,597
Ensembl chrNW_004955583:136,077...150,649 		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_004955432:4,911,774...5,085,349 JBrowse link
G Adora1 adenosine A1 receptor ISO RGD PMID:18787037 RGD:5129100 NCBI chrNW_004955406:39,148,811...39,183,577
Ensembl chrNW_004955406:39,149,689...39,187,688 		JBrowse link
G Adrb1 adrenoceptor beta 1 susceptibility ISO associated with Hypertension;DNA:polymorphism: :p.R389G (human) RGD PMID:20948559 RGD:4145102 NCBI chrNW_004955431:19,025,663...19,027,026 JBrowse link
G Bdnf brain derived neurotrophic factor ISO RGD PMID:16061712 RGD:4891119 NCBI chrNW_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588 		JBrowse link
G Bmp7 bone morphogenetic protein 7 ISO OMIM:107650 MouseDO NCBI chrNW_004955445:2,154,057...2,235,594
Ensembl chrNW_004955445:2,153,170...2,235,795 		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_004955481:10,293,758...10,301,118
Ensembl chrNW_004955481:10,293,399...10,301,143 		JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chrNW_004955557:1,667,518...1,702,272 JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chrNW_004955431:2,203,342...2,282,635
Ensembl chrNW_004955431:2,263,698...2,282,635 		JBrowse link
G Edn1 endothelin 1 ISO DNA:polymorphism:exon:p.K198N (human)
protein:increased secretion:plasma (human)
protein:increased expression:myocardium (rat)		 RGD PMID:17198911 PMID:18580062 PMID:19358946 RGD:4144901 RGD:4145067 RGD:4145075 NCBI chrNW_004955465:2,287,906...2,314,945
Ensembl chrNW_004955465:2,287,798...2,314,753 		JBrowse link
G Ednra endothelin receptor type A ISO DNA:polymorphism: :-231G>A (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19358946 PMID:20083432 RGD:4145067 RGD:4892306 NCBI chrNW_004955428:3,062,303...3,114,761
Ensembl chrNW_004955428:3,062,303...3,114,761 		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_004955422:24,481,246...24,490,529 JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chrNW_004955561:1,676,475...1,682,205
Ensembl chrNW_004955561:1,676,576...1,681,812 		JBrowse link
G Ghsr growth hormone secretagogue receptor ISO protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chrNW_004955420:2,483,173...2,486,414
Ensembl chrNW_004955420:2,478,877...2,487,215 		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_004955451:16,235,819...16,237,457
Ensembl chrNW_004955451:16,235,819...16,237,457 		JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:17511582 RGD:4145404 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased secretion:plasma (human) RGD PMID:20004360 RGD:4145463 NCBI chrNW_004955495:1,561,464...1,573,282
Ensembl chrNW_004955495:1,561,714...1,574,755 		JBrowse link
G Il10 interleukin 10 ISO RGD PMID:22143914 RGD:11049492 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779 		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_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum RGD PMID:20668869 RGD:4143251 NCBI chrNW_004955410:25,079,835...25,084,390 JBrowse link
G Lep leptin ISO protein:increased expression:plasma RGD PMID:18606530 RGD:5128817 NCBI chrNW_004955479:9,266,604...9,276,568
Ensembl chrNW_004955479:9,274,516...9,279,472 		JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphism:exon:p.Q223R (human) RGD PMID:18204169 RGD:5128855 NCBI chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407 		JBrowse link
G LOC102004641 cytochrome b-245 light chain severity ISO mRNA, protein:increased expression:sputum, macrophage, neutrophil RGD PMID:20367952 RGD:4266589 NCBI chrNW_004955541:2,570,843...2,573,822
Ensembl chrNW_004955541:2,569,727...2,574,118 		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_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:plasma RGD PMID:19336590 RGD:5131166 NCBI chrNW_004955545:1,657,728...1,662,112 JBrowse link
G Ngf nerve growth factor ISO RGD PMID:17667845 RGD:5144120 NCBI chrNW_004955435:18,581,889...18,633,330
Ensembl chrNW_004955435:18,581,808...18,601,059 		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_004955481:5,197,957...5,232,406
Ensembl chrNW_004955481:5,201,234...5,231,961 		JBrowse link
G Nos3 nitric oxide synthase 3 severity ISO protein:increased expression:endothelial cell
associated with heart failure; protein:decreased expression:serum
DNA:polymorphism:exon: p. E298D (human)
protein:decreased expression, decreased phosphorylation:endothelial cells		 RGD PMID:16806535 PMID:18413499 PMID:18651156 PMID:20159829 RGD:4891909 RGD:4892051 RGD:4892052 RGD:4892059 NCBI chrNW_004955491:5,438,228...5,457,308
Ensembl chrNW_004955491:5,438,010...5,460,814 		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_004955415:10,494,704...10,585,778
Ensembl chrNW_004955415:10,494,640...10,586,221 		JBrowse link
G Nrg1 neuregulin 1 susceptibility ISO DNA:SNP: :rs10097555(human) RGD PMID:25325441 RGD:405100236 NCBI chrNW_004955463:8,009,436...9,037,116
Ensembl chrNW_004955463:8,009,530...9,037,116 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO RGD PMID:17667845 RGD:5144120 NCBI chrNW_004955545:2,929,704...2,947,579
Ensembl chrNW_004955545:2,929,704...2,947,579 		JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:21698055 RGD:6482785 NCBI chrNW_004955437:11,534,251...11,577,942
Ensembl chrNW_004955437:11,534,173...11,555,996 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:endothelial cell RGD PMID:18413499 RGD:4891909 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:monocyte RGD PMID:17013605 RGD:2298862 NCBI chrNW_004955422:19,602,930...19,612,263
Ensembl chrNW_004955422:19,603,345...19,611,516 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: SLEEP APNEA/HYPOPNEA SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:18330639 RGD:4144837 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142 		JBrowse link
G Sftpb surfactant protein B ISO protein:decreased expression:serum: RGD PMID:25953386 RGD:151667446 NCBI chrNW_004955424:1,849,313...1,858,087
Ensembl chrNW_004955424:1,849,314...1,858,087 		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_004955481:3,088,440...3,122,421
Ensembl chrNW_004955481:3,088,416...3,125,711 		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_004955466:5,646,516...5,926,382 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 chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:19148690 RGD:5131433 NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021 		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_004955413:33,588,375...33,592,054
Ensembl chrNW_004955413:33,588,600...33,591,758 		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_004955437:4,765,234...5,145,033 JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO protein:decreased expression:brain RGD PMID:21570342 RGD:6483334 NCBI chrNW_004955451:16,115,137...16,119,261
Ensembl chrNW_004955451:16,114,454...16,118,622 		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_004955427:14,219,519...14,252,178
Ensembl chrNW_004955427:14,219,594...14,252,178 		JBrowse link
G Gabrr3 gamma-aminobutyric acid type A receptor subunit rho3 ISO ClinVar Annotator: match by term: Restless legs ClinVar NCBI chrNW_004955407:97,769...143,157
Ensembl chrNW_004955407:97,769...143,157 		JBrowse link
G LOC102027549 serotransferrin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16930377 PMID:23369046 RGD:7244177 NCBI chrNW_004955501:4,801,710...4,832,025
Ensembl chrNW_004955501:4,801,885...4,831,910 		JBrowse link
G Meis1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:17637780 PMID:28604731 NCBI chrNW_004955424:18,060,499...18,190,425
Ensembl chrNW_004955424:18,058,004...18,190,453 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18464280 NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386 		JBrowse link
G Ptprd protein tyrosine phosphatase receptor type D treatment ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:striatum (rat)		 CTD
RGD		 PMID:18660810 PMID:36053904 PMID:37633178 RGD:401976430 RGD:401976457 NCBI chrNW_004955434:12,033,825...14,132,636
Ensembl chrNW_004955434:12,031,420...12,428,774 		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_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402 		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_004955452:6,767,250...6,832,989
Ensembl chrNW_004955452:6,767,266...6,832,868 		JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18555211 NCBI chrNW_004955448:15,327,374...15,396,827
Ensembl chrNW_004955448:15,329,273...15,396,970 		JBrowse link
G Il18 interleukin 18 severity ISO RGD PMID:19187612 RGD:4889903 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634 		JBrowse link
G Il6r interleukin 6 receptor ISO RGD PMID:16983050 RGD:5128666 NCBI chrNW_004955545:932,814...979,359
Ensembl chrNW_004955545:950,765...981,762 		JBrowse link
G Lepr leptin receptor ISO RGD PMID:11896492 RGD:5128873 NCBI chrNW_004955423:25,108,897...25,185,315
Ensembl chrNW_004955423:25,111,266...25,185,407 		JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:cerebral cortex, hippocampus, astrocyte RGD PMID:20002528 RGD:5508790 NCBI chrNW_004955407:42,972,584...42,980,510
Ensembl chrNW_004955407:42,972,584...42,980,510 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma RGD PMID:20508215 RGD:4144827 NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142 		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_004955411:3,268,147...3,285,567
Ensembl chrNW_004955411:3,268,147...3,285,077 		JBrowse link
G Tph2 tryptophan hydroxylase 2 ISO RGD PMID:28775068 PMID:30763168 RGD:597830069 RGD:597830156 NCBI chrNW_004955405:11,877,474...11,981,035
Ensembl chrNW_004955405:11,886,206...11,982,550 		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_004955412:18,596,643...18,620,089
Ensembl chrNW_004955412:18,596,643...18,620,362 		JBrowse link
G Bdnf brain derived neurotrophic factor treatment ISO RGD PMID:25450575 RGD:10059355 NCBI chrNW_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588 		JBrowse link
G Crh corticotropin releasing hormone ISO mRNA, protein:increased expression:paraventricular nucleus of thalamus RGD PMID:16210372 RGD:407580523 NCBI chrNW_004955444:12,989,210...12,991,300 JBrowse link
G Cst3 cystatin C ISO RGD PMID:17027151 RGD:2306498 NCBI chrNW_004955415:30,507,972...30,512,109 JBrowse link
G Ctsh cathepsin H ISO RGD PMID:17027151 RGD:2306498 NCBI chrNW_004955533:39,237...54,881
Ensembl chrNW_004955533:39,284...54,837 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO mRNA:decreased expression:cerebral cortex RGD PMID:16923172 RGD:2313667 NCBI chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239 		JBrowse link
G Drd1 dopamine receptor D1 ISO protein:increased expression:hypothalamus RGD PMID:25433096 RGD:13506946 NCBI chrNW_004955408:28,003,229...28,006,595
Ensembl chrNW_004955408:28,003,229...28,006,595 		JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO protein:hyperphosphorylation:prefrontal cortex, dentate gyrus; RGD PMID:22917528 RGD:10401259 NCBI chrNW_004955495:4,800,103...4,807,714
Ensembl chrNW_004955495:4,799,922...4,807,252 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO protein:decreased expression:hippocampus (rat) RGD PMID:20237303 RGD:4107020 NCBI chrNW_004955413:10,358,931...10,780,004
Ensembl chrNW_004955413:10,376,597...10,779,145 		JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased expression:hippocampus, cortex, amygdala: RGD PMID:21621560 RGD:11059509 NCBI chrNW_004955463:7,130,459...7,153,631
Ensembl chrNW_004955463:7,131,364...7,153,583 		JBrowse link
G Jph3 junctophilin 3 ISO mRNA:increased expression:brain RGD PMID:18077435 RGD:6480426 NCBI chrNW_004955541:1,969,197...2,020,868
Ensembl chrNW_004955541:1,969,194...2,017,588 		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_004955467:5,188,036...5,295,570
Ensembl chrNW_004955467:5,187,356...5,307,692 		JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO RNA:increased expression:liver: RGD PMID:28860003 RGD:13781877 NCBI chrNW_004955410:10,717,664...10,742,109
Ensembl chrNW_004955410:10,717,664...10,751,177 		JBrowse link
G Ngb neuroglobin ISO protein:decreased expression:brain RGD PMID:23262504 RGD:9743966 NCBI chrNW_004955438:1,170,888...1,175,978
Ensembl chrNW_004955438:1,170,888...1,175,978 		JBrowse link
G Npy neuropeptide Y ISO mRNA:increased expression:paraventricular nucleus of thalamus RGD PMID:16210372 RGD:407580523 NCBI chrNW_004955410:26,348,388...26,355,232
Ensembl chrNW_004955410:26,348,504...26,355,297 		JBrowse link
G Nrgn neurogranin ISO RGD PMID:7583240 RGD:9835425 NCBI chrNW_004955412:25,809,512...25,818,237
Ensembl chrNW_004955412:25,809,512...25,818,237 		JBrowse link
G Pomc proopiomelanocortin ISO mRNA:decreased expression:paraventricular nucleus of thalamus RGD PMID:16210372 RGD:407580523 NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16343605 NCBI chrNW_004955419:5,678,750...5,699,305
Ensembl chrNW_004955419:5,678,694...5,699,305 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:brain RGD PMID:18077435 RGD:6480426 NCBI chrNW_004955406:25,077,988...25,086,259
Ensembl chrNW_004955406:25,079,945...25,086,171 		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_004955455:7,886,720...7,906,214
Ensembl chrNW_004955455:7,895,974...7,906,505 		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_004955533:2,879,437...2,938,952
Ensembl chrNW_004955533:2,573,599...2,938,952 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A treatment ISO RGD PMID:20684606 RGD:401938599 NCBI chrNW_004955431:583,165...646,991
Ensembl chrNW_004955431:580,713...647,345 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20199424 NCBI chrNW_004955419:1,782,566...1,857,375
Ensembl chrNW_004955419:1,782,566...1,857,375 		JBrowse link
G Meis1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28604731 NCBI chrNW_004955424:18,060,499...18,190,425
Ensembl chrNW_004955424:18,058,004...18,190,453 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO DNA:SNP:cds:p.G482S (rs8192678) (human) RGD PMID:22392034 RGD:6484261 NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14338
    disease of anatomical entity 14031
      nervous system disease 12352
        Neurologic Manifestations 9222
          sleep disorder 143
            Dyssomnias 119
              Intrinsic Sleep Disorders + 93
              Sleep Deprivation 19
              advanced sleep phase syndrome + 9
Path 2
Term Annotations click to browse term
  disease 14338
    disease of anatomical entity 14031
      nervous system disease 12352
        central nervous system disease 11076
          brain disease 10393
            disease of mental health 7471
              sleep disorder 143
                Dyssomnias 119
                  Intrinsic Sleep Disorders + 93
                  Sleep Deprivation 19
                  advanced sleep phase syndrome + 9
paths to the root