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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:sleep disorder
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Accession:DOID:535 term browser browse the term
Definition:A disease of mental health that involves disruption of sleep patterns. (DO)
Synonyms:exact_synonym: Sleep Disorders;   Sleep Related Neurogenic Tachypnea;   Sleep Wake Disorder;   Sleep Wake Disorders;   Sleep-Related Neurogenic Tachypneas;   long sleeper syndrome;   non-organic sleep disorder;   subwakefullness syndrome
 related_synonym: SLEEP DISTURBANCE
 primary_id: MESH:D012893
 xref: EFO:0008568;   ICD9CM:307.4
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
sleep disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHE41 basic helix-loop-helix family member e41 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr27:21,464,302...21,469,119 JBrowse link
G CHAT choline O-acetyltransferase ISO ClinVar Annotator: match by term: Sleep disturbance ClinVar PMID:25741868 NCBI chr28:1,480,364...1,528,858
Ensembl chr28:1,482,202...1,528,776 		JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16339034 NCBI chr24:47,024,948...47,036,507
Ensembl chr24:47,025,187...47,042,266 		JBrowse link
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:12228730 NCBI chr 7:42,786,505...42,797,976
Ensembl chr 7:42,789,600...42,795,722 		JBrowse link
G CLOCK clock circadian regulator ISO MouseDO NCBI chr13:47,684,409...47,825,733
Ensembl chr13:47,691,709...47,758,784 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Sleep disturbance ClinVar PMID:25741868 NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029 		JBrowse link
G GCH1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Sleep disturbance ClinVar PMID:25741868 NCBI chr 8:30,733,422...30,784,067
Ensembl chr 8:30,732,608...30,784,156 		JBrowse link
G GHRH growth hormone releasing hormone ISO mRNA:increased expression:brain, multiple (rat) RGD PMID:16859658 RGD:5687196 NCBI chr24:25,893,224...25,902,095
Ensembl chr24:25,893,225...25,897,712 		JBrowse link
G GHRHR growth hormone releasing hormone receptor ISO mRNA:decreased expression:hypothalamus (rat) RGD PMID:12161265 RGD:728477 NCBI chr14:43,626,862...43,638,737
Ensembl chr14:43,626,845...43,638,753 		JBrowse link
G HTR7 5-hydroxytryptamine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21859099 NCBI chr28:5,438,872...5,524,385
Ensembl chr28:5,440,388...5,524,191 		JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17520785 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G NPSR1 neuropeptide S receptor 1 ISO MouseDO NCBI chr14:46,465,169...46,610,256
Ensembl chr14:46,466,544...46,609,477 		JBrowse link
G PCDH19 protocadherin 19 ISO ClinVar Annotator: match by term: Sleep disturbance ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr  X:74,179,609...74,319,138
Ensembl chr  X:74,184,772...74,317,391 		JBrowse link
G PER2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Sleep disturbance ClinVar NCBI chr25:48,716,499...48,761,617
Ensembl chr25:48,717,173...48,758,755 		JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18464280 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24403155 NCBI chr34:11,209,118...11,245,456
Ensembl chr34:11,210,939...11,246,742 		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 chr 9:4,238,814...4,245,660
Ensembl chr 9:4,239,284...4,240,707 		JBrowse link
G BHLHE40 basic helix-loop-helix family member e40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr20:12,641,872...12,647,519
Ensembl chr20:12,642,702...12,647,525 		JBrowse link
G CRY1 cryptochrome circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:31,681,098...31,792,995
Ensembl chr10:31,681,288...31,780,306 		JBrowse link
G NFIL3 nuclear factor, interleukin 3 regulated ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr 1:95,508,224...95,510,452
Ensembl chr 1:95,508,764...95,510,152 		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 chr25:48,716,499...48,761,617
Ensembl chr25:48,717,173...48,758,755 		JBrowse link
G PER3 period circadian regulator 3 ISO DNA:missense mutations:cds:multiple (human) RGD PMID:11306557 RGD:1358557 NCBI chr 5:61,445,580...61,499,393
Ensembl chr 5:61,445,461...61,498,499 		JBrowse link
G RORC RAR related orphan receptor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr17:60,821,498...60,842,485
Ensembl chr17:60,821,981...60,842,453 		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 chr 9:83,395...110,309
Ensembl chr 9:73,215...110,269 		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 chr25:48,716,499...48,761,617
Ensembl chr25:48,717,173...48,758,755 		JBrowse link
G PER3 period circadian regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:61,445,580...61,499,393
Ensembl chr 5:61,445,461...61,498,499 		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 chr 9:83,395...110,309
Ensembl chr 9:73,215...110,269 		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 chr 5:61,445,580...61,499,393
Ensembl chr 5:61,445,461...61,498,499 		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 ClinVar Annotator: match by term: Advance sleep phase syndrome, familial, 4 OMIM
ClinVar		 PMID:25741868 NCBI chr10:671,829...701,152
Ensembl chr10:671,269...687,016 		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 chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029 		JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4 OMIM
ClinVar		 PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chr25:30,117,384...30,137,223
Ensembl chr25:30,117,239...30,135,599 		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 8:1,318,440...1,354,814
Ensembl chr 8:1,247,155...1,354,720 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO associated with Narcolepsy;DNA:polymorphism (human) RGD PMID:17297265 RGD:5147632 NCBI chr12:2,305,307...2,307,711 JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Cataplexy ClinVar PMID:10521290 PMID:11333381 PMID:11349231 PMID:11479732 PMID:11754101 More... NCBI chr 7:64,764,941...64,802,507
Ensembl chr 7:64,760,121...64,802,902 		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 chr20:50,941,413...50,946,042
Ensembl chr20:50,941,503...50,946,041 		JBrowse link
G P2RY11 purinergic receptor P2Y11 ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr20:50,946,038...50,948,636
Ensembl chr20:50,946,038...50,948,636 		JBrowse link
G PPAN peter pan homolog ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr20:50,949,138...50,952,843
Ensembl chr20:50,949,138...50,952,843 		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 chr28:1,480,364...1,528,858
Ensembl chr28:1,482,202...1,528,776 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO associated with heart failure; protein:decreased expression:serum RGD PMID:16806535 RGD:4892059 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G TAC1 tachykinin precursor 1 ISO RGD PMID:18420958 RGD:2304275 NCBI chr14:22,631,106...22,640,283
Ensembl chr14:22,632,642...22,640,258 		JBrowse link
G TACR1 tachykinin receptor 1 ISO RGD PMID:18420958 RGD:2304275 NCBI chr17:48,038,010...48,178,971
Ensembl chr17:48,038,010...48,178,971 		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 chr15:41,694,021...41,696,933
Ensembl chr15:41,694,269...41,695,391 		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 chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480 		JBrowse link
G EDN3 endothelin 3 ISO ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome ClinVar PMID:8696331 PMID:19556619 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr24:44,024,553...44,054,727
Ensembl chr24:44,033,419...44,054,050 		JBrowse link
G GDNF glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9497256 NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714 		JBrowse link
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr15:41,590,253...41,670,156
Ensembl chr15:41,592,876...41,670,837 		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 Annotator: match by term: Primary alveolar hypoventilation ClinVar PMID:10613788 PMID:12640453 PMID:14566559 PMID:14608649 PMID:15121777 More... NCBI chr13:38,865,963...38,869,912
Ensembl chr13:38,865,995...38,869,854 		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 chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210 		JBrowse link
G TLX3 T cell leukemia homeobox 3 ISO OMIM:209880 MouseDO NCBI chr 4:40,816,351...40,818,582
Ensembl chr 4:40,816,467...40,818,723 		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 chr15:41,694,021...41,696,933
Ensembl chr15:41,694,269...41,695,391 		JBrowse link
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:14532329 NCBI chr15:41,590,253...41,670,156
Ensembl chr15:41,592,876...41,670,837 		JBrowse link
G PHOX2B paired like homeobox 2B ISO ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | ClinVar Annotator: match by term: Haddad syndrome ClinVar
OMIM		 PMID:9536098 PMID:10613788 PMID:12631670 PMID:12640453 PMID:14566559 More... NCBI chr13:38,865,963...38,869,912
Ensembl chr13:38,865,995...38,869,854 		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 chr26:17,626,161...17,669,772
Ensembl chr26:17,626,121...17,729,757 		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 chr28:13,872,846...13,875,521
Ensembl chr28:13,873,727...13,875,486 		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 chr 9:4,238,814...4,245,660
Ensembl chr 9:4,239,284...4,240,707 		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 chr10:31,681,098...31,792,995
Ensembl chr10:31,681,288...31,780,306 		JBrowse link
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 chr 5:41,687,436...41,797,354
Ensembl chr 5:41,688,479...41,808,918 		JBrowse link
Familial Natural Short Sleep 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHLHE41 basic helix-loop-helix family member e41 ISO ClinVar Annotator: match by term: Short sleep, familial natural, 1 OMIM
ClinVar		 PMID:19679812 PMID:25083013 NCBI chr27:21,464,302...21,469,119 JBrowse link
G SSPN sarcospan ISO ClinVar Annotator: match by term: Short sleep, familial natural, 1 ClinVar PMID:19679812 PMID:25083013 NCBI chr27:21,355,345...21,392,376
Ensembl chr27:21,359,164...21,392,382 		JBrowse link
Familial Natural Short Sleep 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRB1 adrenoceptor beta 1 ISO ClinVar Annotator: match by term: SHORT SLEEP, FAMILIAL NATURAL, 2 ClinVar PMID:31473062 NCBI chr28:24,908,224...24,909,684
Ensembl chr28:24,908,224...24,909,684 		JBrowse link
familial temporal lobe epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP55 centrosomal protein 55 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr28:7,754,934...7,777,662
Ensembl chr28:7,754,964...7,778,481 		JBrowse link
G FFAR4 free fatty acid receptor 4 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr28:7,801,713...7,820,048
Ensembl chr28:7,801,713...7,820,048 		JBrowse link
G FRA10AC1 FRA10A associated CGG repeat 1 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr28:7,891,451...7,929,612
Ensembl chr28:7,891,591...7,926,818 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:25741868 NCBI chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960 		JBrowse link
G LGI1 leucine rich glioma inactivated 1 ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 | ClinVar Annotator: match by term: LGI1-related condition OMIM
ClinVar		 PMID:9536098 PMID:11810107 PMID:11978770 PMID:12205652 PMID:12601709 More... NCBI chr28:7,966,485...8,005,995
Ensembl chr28:7,966,593...8,012,313 		JBrowse link
G MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:66,350,459...66,358,391
Ensembl chr12:66,350,427...66,360,615 		JBrowse link
G MYOF myoferlin ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr28:7,602,778...7,745,185
Ensembl chr28:7,603,129...7,745,063 		JBrowse link
G PDE6C phosphodiesterase 6C ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr28:7,839,604...7,887,827
Ensembl chr28:7,839,847...7,887,776 		JBrowse link
G RBP4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr28:7,822,936...7,830,735
Ensembl chr28:7,822,944...7,830,750 		JBrowse link
G RELN reelin ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:2564880 PMID:14515139 PMID:14593429 PMID:18414213 PMID:20697953 More... NCBI chr18:16,275,822...16,773,875
Ensembl chr18:16,275,837...16,773,875 		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 chr25:32,463,361...32,468,965
Ensembl chr25:32,463,452...32,467,224 		JBrowse link
G PRNP prion protein ISO ClinVar Annotator: match by term: Fatal familial insomnia ClinVar
OMIM		 PMID:1351274 PMID:1353341 PMID:1404799 PMID:1439789 PMID:1469441 More... NCBI chr24:16,845,224...16,862,319
Ensembl chr24:16,846,207...16,859,815 		JBrowse link
Idiopathic Hypersomnolence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 ISO DNA:polymorphism (human) RGD PMID:19927159 RGD:5147660 NCBI chr12:2,305,307...2,307,711 JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain ISO DNA:polymorphism (human) RGD PMID:19927159 RGD:5147660 NCBI chr12:2,151,409...2,164,564 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 chr24:44,024,553...44,054,727
Ensembl chr24:44,033,419...44,054,050 		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:87,865,007...87,968,658
Ensembl chr  X:87,866,969...87,968,883 		JBrowse link
G MAP4 microtubule associated protein 4 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr20:40,896,920...41,101,626
Ensembl chr20:40,896,772...41,100,001 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr  X:121,777,658...121,782,097
Ensembl chr  X:121,727,573...121,788,860 		JBrowse link
G PLXND1 plexin D1 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar PMID:28492532 NCBI chr20:5,554,814...5,610,417
Ensembl chr20:5,554,708...5,610,122 		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:107,001,421...107,023,007
Ensembl chr  X:107,010,890...107,023,006 		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 chr10:16,733,071...16,736,797
Ensembl chr10:16,733,095...16,736,758 		JBrowse link
G CPT1B carnitine palmitoyltransferase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18820697 NCBI chr10:16,737,106...16,744,626
Ensembl chr10:16,737,289...16,744,624 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:cds:multiple		 CTD
RGD		 PMID:11179016 PMID:20711174 RGD:5147861 NCBI chr12:2,305,307...2,307,711 JBrowse link
G HCRT hypocretin neuropeptide precursor no_association ISO mRNA:decreased expression:hypothalamus or protein:decreased expression:brain; in all samples examined
OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250
DNA:polymorphism:5' UTR:3250C/T, all patients found heterozygous for the 3250T allele
DNA:polymorphism:5' UTR:no association with either -909C-T polymorphism or -22T allele (aka 3250T allele)		 RGD
MouseDO		 PMID:10973318 PMID:11148249 PMID:11723284 RGD:1600919 RGD:1600922 RGD:1600923 NCBI chr 9:20,729,616...20,732,074
Ensembl chr 9:20,730,779...20,732,028 		JBrowse link
G HCRTR2 hypocretin receptor 2 IAGP Narcolepsy OMIA PMID:72649 PMID:562026 PMID:574310 PMID:945254 PMID:1393561 More... NCBI chr12:22,517,482...22,623,358
Ensembl chr12:22,517,482...22,623,358 		JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:cds:multiple (human)		 CTD
RGD		 PMID:11179016 PMID:20711174 RGD:5147861 NCBI chr12:2,151,409...2,164,564 JBrowse link
G MOG myelin oligodendrocyte glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr35:26,256,311...26,267,357
Ensembl chr35:26,256,489...26,266,832 		JBrowse link
G P2RY11 purinergic receptor P2Y11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21170044 NCBI chr20:50,946,038...50,948,636
Ensembl chr20:50,946,038...50,948,636 		JBrowse link
G PENK proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr29:7,757,543...7,763,137
Ensembl chr29:7,757,857...7,762,398 		JBrowse link
G SOCS2 suppressor of cytokine signaling 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr15:33,761,434...33,788,973
Ensembl chr15:33,785,545...33,877,869 		JBrowse link
G TAC1 tachykinin precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr14:22,631,106...22,640,283
Ensembl chr14:22,632,642...22,640,258 		JBrowse link
G TRH thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:2845442 NCBI chr20:5,219,495...5,222,914
Ensembl chr20:5,219,594...5,222,866 		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 chr 9:20,729,616...20,732,074
Ensembl chr 9:20,730,779...20,732,028 		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 chr35:26,256,311...26,267,357
Ensembl chr35:26,256,489...26,266,832 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KAT5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities OMIM
ClinVar		 PMID:25741868 PMID:32822602 NCBI chr18:51,499,615...51,507,434
Ensembl chr18:51,499,938...51,576,699 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities ClinVar PMID:25741868 PMID:32822602 NCBI chr18:51,498,282...51,501,844
Ensembl chr18:51,498,308...51,499,541 		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 chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727 		JBrowse link
G ACE angiotensin I converting enzyme susceptibility
severity		 ISO DNA:polymorphism (human)
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 chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358 		JBrowse link
G ADORA1 adenosine A1 receptor ISO RGD PMID:18787037 RGD:5129100 NCBI chr 7:44,819...74,217
Ensembl chr 7:44,820...73,051 		JBrowse link
G ADRB1 adrenoceptor beta 1 susceptibility ISO associated with Hypertension;DNA:polymorphism: :p.R389G (human) RGD PMID:20948559 RGD:4145102 NCBI chr28:24,908,224...24,909,684
Ensembl chr28:24,908,224...24,909,684 		JBrowse link
G BDNF brain derived neurotrophic factor ISO RGD PMID:16061712 RGD:4891119 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480 		JBrowse link
G BMP7 bone morphogenetic protein 7 ISO OMIM:107650 MouseDO NCBI chr24:42,203,183...42,294,105
Ensembl chr24:42,204,823...42,294,653 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:increased expression:plasma RGD PMID:20855682 RGD:4891459 NCBI chr 9:39,008,187...39,009,932 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 chr 9:37,817,409...37,823,852
Ensembl chr 9:37,817,305...37,823,852 		JBrowse link
G CRP C-reactive protein ISO RGD PMID:21493247 RGD:5131290 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166 		JBrowse link
G CYBA cytochrome b-245 alpha chain severity ISO mRNA, protein:increased expression:sputum, macrophage, neutrophil RGD PMID:20367952 RGD:4266589 NCBI chr 5:64,692,865...64,701,056
Ensembl chr 5:64,692,123...64,704,893 		JBrowse link
G CYSLTR1 cysteinyl leukotriene receptor 1 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chr  X:60,462,290...60,513,155
Ensembl chr  X:60,463,526...60,464,548 		JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chr22:2,914,960...2,962,517
Ensembl chr22:2,917,514...2,918,551 		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 chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383 		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 chr15:45,823,472...45,878,527
Ensembl chr15:45,823,560...45,876,463 		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 chr24:25,893,224...25,902,095
Ensembl chr24:25,893,225...25,897,712 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr20:8,092,921...8,097,512
Ensembl chr20:8,092,957...8,097,510 		JBrowse link
G GHSR growth hormone secretagogue receptor ISO protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr34:36,691,132...36,694,304
Ensembl chr34:36,690,224...36,694,312 		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 chr 9:20,729,616...20,732,074
Ensembl chr 9:20,730,779...20,732,028 		JBrowse link
G HMOX1 heme oxygenase 1 ISO RGD PMID:17511582 RGD:4145404 NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased secretion:plasma (human) RGD PMID:20004360 RGD:4145463 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914 		JBrowse link
G IL10 interleukin 10 ISO RGD PMID:22143914 RGD:11049492 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		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 chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum RGD PMID:20668869 RGD:4143251 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519 		JBrowse link
G LEP leptin ISO protein:increased expression:plasma RGD PMID:18606530 RGD:5128817 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395 		JBrowse link
G LEPR leptin receptor susceptibility ISO DNA:polymorphism:exon:p.Q223R (human) RGD PMID:18204169 RGD:5128855 NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636 		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 chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		JBrowse link
G MUC1 mucin 1, cell surface associated ISO protein:increased expression:plasma RGD PMID:19336590 RGD:5131166 NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690 		JBrowse link
G NGF nerve growth factor ISO RGD PMID:17667845 RGD:5144120 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607 		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 chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588 		JBrowse link
G NOS3 nitric oxide synthase 3 severity ISO DNA:polymorphism:exon: p. E298D (human)
protein:decreased expression, decreased phosphorylation:endothelial cells
associated with heart failure; protein:decreased expression:serum
protein:increased expression:endothelial cell		 RGD PMID:16806535 PMID:18413499 PMID:18651156 PMID:20159829 RGD:4891909 RGD:4892051 RGD:4892052 RGD:4892059 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO mRNA, protein:increased expression:lymphoid tissue: RGD PMID:15611350 RGD:4892608 NCBI chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755 		JBrowse link
G NRG1 neuregulin 1 susceptibility ISO DNA:SNP: :rs10097555(human) RGD PMID:25325441 RGD:405100236 NCBI chr16:31,697,958...32,771,888
Ensembl chr16:31,706,851...32,771,932 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO RGD PMID:17667845 RGD:5144120 NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288 		JBrowse link
G PLA2G7 phospholipase A2 group VII ISO RGD PMID:21698055 RGD:6482785 NCBI chr12:14,866,229...14,908,230
Ensembl chr12:14,866,229...14,908,114 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:endothelial cell RGD PMID:18413499 RGD:4891909 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:monocyte RGD PMID:17013605 RGD:2298862 NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: SLEEP APNEA/HYPOPNEA SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493 		JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:18330639 RGD:4144837 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301 		JBrowse link
G SFTPB surfactant protein B ISO protein:decreased expression:serum: RGD PMID:25953386 RGD:151667446 NCBI chr17:39,419,305...39,428,513
Ensembl chr17:39,386,584...39,426,229 		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 chr 9:44,224,026...44,259,655
Ensembl chr 9:44,224,229...44,259,736 		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 8:38,373,900...38,643,544
Ensembl chr 8:38,373,964...38,643,240 		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 chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:19148690 RGD:5131433 NCBI chr27:38,641,837...38,654,693
Ensembl chr27:38,638,753...38,700,282 		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 chr10:16,733,071...16,736,797
Ensembl chr10:16,733,095...16,736,758 		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 chr12:7,154,805...7,564,050
Ensembl chr12:7,154,925...7,564,017 		JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase ISO protein:decreased expression:brain RGD PMID:21570342 RGD:6483334 NCBI chr 9:20,888,350...20,896,139
Ensembl chr 9:20,886,574...20,896,079 		JBrowse link
G DRD3 dopamine receptor D3 ISO OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197 MouseDO NCBI chr33:18,369,362...18,414,465
Ensembl chr33:18,372,865...18,412,277 		JBrowse link
G LOC477072 serotransferrin ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:16930377 PMID:23369046 RGD:7244177 NCBI chr23:30,658,250...30,683,816
Ensembl chr23:30,595,704...30,683,845 		JBrowse link
G MEIS1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17637780 PMID:28604731 NCBI chr10:65,765,498...65,898,714
Ensembl chr10:65,683,560...65,897,573 		JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18464280 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440 		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 chr11:29,100,913...31,278,495
Ensembl chr11:29,104,448...29,501,600 		JBrowse link
G SLC11A2 solute carrier family 11 member 2 ISO mRNA, protein:increased expression:pons, thalamus RGD PMID:21710629 RGD:5688410 NCBI chr27:3,788,785...3,823,852
Ensembl chr27:3,787,855...3,822,672 		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 chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844 		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 2:72,711,626...72,762,802
Ensembl chr 2:72,747,701...72,752,605 		JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18555211 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583 		JBrowse link
G IL18 interleukin 18 severity ISO RGD PMID:19187612 RGD:4889903 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348 		JBrowse link
G IL6R interleukin 6 receptor ISO RGD PMID:16983050 RGD:5128666 NCBI chr 7:42,877,731...42,920,149
Ensembl chr 7:42,880,885...42,920,090 		JBrowse link
G LEPR leptin receptor ISO RGD PMID:11896492 RGD:5128873 NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636 		JBrowse link
G S100B S100 calcium binding protein B ISO protein:increased expression:cerebral cortex, hippocampus, astrocyte RGD PMID:20002528 RGD:5508790 NCBI chr31:39,783,990...39,788,289
Ensembl chr31:39,784,506...39,788,183 		JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:plasma RGD PMID:20508215 RGD:4144827 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301 		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 chr12:72,458,959...72,479,271
Ensembl chr12:72,459,041...72,479,124 		JBrowse link
Sleep Bruxism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTR2A 5-hydroxytryptamine receptor 2A susceptibility ISO DNA:SNP: :102T>C (rs6313) RGD PMID:22545912 RGD:401900300 NCBI chr22:4,453,715...4,510,934
Ensembl chr22:4,453,715...4,511,037 		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 chr 5:16,308,953...16,319,100
Ensembl chr 5:16,308,944...16,319,100 		JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO RGD PMID:25450575 RGD:10059355 NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480 		JBrowse link
G CTSH cathepsin H ISO RGD PMID:17027151 RGD:2306498 NCBI chr 3:58,103,284...58,113,958
Ensembl chr 3:58,103,291...58,113,718 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO mRNA:decreased expression:cerebral cortex RGD PMID:16923172 RGD:2313667 NCBI chr 5:21,062,833...21,094,235
Ensembl chr 5:21,064,026...21,094,153 		JBrowse link
G DRD1 dopamine receptor D1 ISO protein:increased expression:hypothalamus RGD PMID:25433096 RGD:13506946 NCBI chr 4:37,550,454...37,554,641
Ensembl chr 4:37,549,708...37,553,287 		JBrowse link
G EEF2 eukaryotic translation elongation factor 2 ISO protein:hyperphosphorylation:prefrontal cortex, dentate gyrus; RGD PMID:22917528 RGD:10401259 NCBI chr20:55,577,413...55,586,422
Ensembl chr20:55,522,213...55,586,126 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO protein:decreased expression:hippocampus (rat) RGD PMID:20237303 RGD:4107020 NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680 		JBrowse link
G GSR glutathione-disulfide reductase ISO protein:increased expression:hippocampus, cortex, amygdala: RGD PMID:21621560 RGD:11059509 NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752 		JBrowse link
G JPH3 junctophilin 3 ISO mRNA:increased expression:brain RGD PMID:18077435 RGD:6480426 NCBI chr 5:65,445,329...65,530,288
Ensembl chr 5:65,451,050...65,530,294 		JBrowse link
G LOC607874 cystatin-C-like ISO RGD PMID:17027151 RGD:2306498 NCBI chr23:49,562...53,618 JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 ISO mRNA, protein:decreased expression:mandible condylar process RGD PMID:23859770 RGD:7495827 NCBI chr 5:36,142,610...36,243,673
Ensembl chr 5:36,118,388...36,241,296 		JBrowse link
G MIR223 microRNA mir-223 ISO RGD PMID:30225174 RGD:25824951 NCBI chr  X:50,838,131...50,838,233
Ensembl chr  X:50,838,131...50,838,233 		JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase ISO RNA:increased expression:liver: RGD PMID:28860003 RGD:13781877 NCBI chr18:14,110,045...14,211,268
Ensembl chr18:13,993,022...14,208,657 		JBrowse link
G NGB neuroglobin ISO protein:decreased expression:brain RGD PMID:23262504 RGD:9743966 NCBI chr 8:50,081,960...50,086,071
Ensembl chr 8:50,081,960...50,085,435 		JBrowse link
G NRGN neurogranin ISO RGD PMID:7583240 RGD:9835425 NCBI chr 5:9,673,107...9,679,819
Ensembl chr 5:9,673,809...9,679,799 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16343605 NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:brain RGD PMID:18077435 RGD:6480426 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903 		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 chr26:28,141,076...28,150,600
Ensembl chr26:28,141,076...28,150,598 		JBrowse link
G DLA-DQB1 major histocompatibility complex, class II, DQ beta 1 severity ISO DNA:polymorphism:cds:HLA-DQB1*0602 (human) RGD PMID:21292329 RGD:5147604 NCBI chr12:2,305,307...2,307,711 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:25741909 PMID:28492532 NCBI chr 3:33,878,948...34,101,987
Ensembl chr 3:33,878,904...34,097,764 		JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A treatment ISO RGD PMID:20684606 RGD:401938599 NCBI chr22:4,453,715...4,510,934
Ensembl chr22:4,453,715...4,511,037 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20199424 NCBI chr 9:56,542,844...56,625,609
Ensembl chr 9:56,542,826...56,625,530 		JBrowse link
G MEIS1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28604731 NCBI chr10:65,765,498...65,898,714
Ensembl chr10:65,683,560...65,897,573 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO DNA:SNP:cds:p.G482S (rs8192678) (human) RGD PMID:22392034 RGD:6484261 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269 		JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Insomnia ClinVar PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474 NCBI chr20:40,077,856...40,085,100
Ensembl chr20:40,078,163...40,085,099 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        Neurologic Manifestations 9572
          sleep disorder 147
            Dyssomnias + 123
            NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES 2
            Parasomnias + 10
            Short Sleep + 3
            advanced sleep phase syndrome + 9
            bruxism + 1
            familial temporal lobe epilepsy 1 10
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        central nervous system disease 11844
          brain disease 11124
            disease of mental health 8067
              sleep disorder 147
                Dyssomnias + 123
                NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES 2
                Parasomnias + 10
                Short Sleep + 3
                advanced sleep phase syndrome + 9
                bruxism + 1
                familial temporal lobe epilepsy 1 10
paths to the root