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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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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 chr16:16,717,767...16,847,014
Ensembl chr16:16,760,189...16,849,346
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 chr16:45,206,233...45,215,761
Ensembl chr16:45,206,377...45,207,591
JBrowse link
G BHLHE40 basic helix-loop-helix family member e40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr22:41,049,673...41,055,365
Ensembl chr22:41,049,712...41,055,360
JBrowse link
G CRY1 cryptochrome circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:102,200,822...102,306,165
Ensembl chr11:102,204,224...102,306,182
JBrowse link
G NFIL3 nuclear factor, interleukin 3 regulated ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr12:101,845,294...101,860,844
Ensembl chr12:101,845,592...101,846,980
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 chr10:124,270,917...124,316,031
Ensembl chr10:124,269,543...124,315,904
JBrowse link
G PER3 period circadian regulator 3 ISO DNA:missense mutations:cds:multiple (human) RGD PMID:11306557 RGD:1358557 NCBI chr20:123,912,773...123,970,440
Ensembl chr20:123,912,208...123,970,549
JBrowse link
G RORC RAR related orphan receptor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr20:11,854,911...11,880,221
Ensembl chr20:11,855,005...11,879,717
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 chr16:74,157,875...74,192,142
Ensembl chr16:74,160,648...74,192,108
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 chr10:124,270,917...124,316,031
Ensembl chr10:124,269,543...124,315,904
JBrowse link
G PER3 period circadian regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:123,912,773...123,970,440
Ensembl chr20:123,912,208...123,970,549
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 chr16:74,157,875...74,192,142
Ensembl chr16:74,160,648...74,192,108
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 chr20:123,912,773...123,970,440
Ensembl chr20:123,912,208...123,970,549
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 chr11:52,371,781...52,408,923
Ensembl chr11:52,372,375...52,389,284
JBrowse link
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy OMIM
ClinVar
PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 More... NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607
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 chr24:69,810,433...69,855,308 JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Cataplexy ClinVar PMID:10521290 PMID:11333381 PMID:11349231 PMID:11479732 PMID:11754101 More... NCBI chr18:56,956,557...57,007,951
Ensembl chr18:56,956,174...57,007,474
JBrowse link
Cataplexy and Narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF3G eukaryotic translation initiation factor 3 subunit G ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr 6:9,183,740...9,188,896 JBrowse link
G P2RY11 purinergic receptor P2Y11 ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr 6:9,180,132...9,183,643 JBrowse link
G PPAN peter pan homolog ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr 6:9,174,978...9,180,121
Ensembl chr 6:9,174,990...9,179,990
JBrowse link
central sleep apnea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHAT choline O-acetyltransferase ISO ClinVar Annotator: match by term: Apnea, central sleep ClinVar PMID:15701560 PMID:25741868 PMID:28492532 NCBI chr 9:42,159,367...42,216,137
Ensembl chr 9:42,162,601...42,214,705
JBrowse link
G NOS3 nitric oxide synthase 3 ISO associated with heart failure; protein:decreased expression:serum RGD PMID:16806535 RGD:4892059 NCBI chr21:119,174,829...119,196,840 JBrowse link
G TAC1 tachykinin precursor 1 ISO RGD PMID:18420958 RGD:2304275 NCBI chr21:51,339,085...51,347,561
Ensembl chr21:51,339,095...51,347,550
JBrowse link
G TACR1 tachykinin receptor 1 ISO RGD PMID:18420958 RGD:2304275 NCBI chr14:32,080,319...32,236,556
Ensembl chr14:32,083,615...32,233,596
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 chr11:98,182,213...98,185,057
Ensembl chr11:98,182,787...98,183,506
JBrowse link
G BDNF brain derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:11840487 PMID:25741868 PMID:28492532 NCBI chr 1:37,386,825...37,451,380
Ensembl chr 1:37,449,593...37,450,336
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 chr 2:4,814,447...4,839,950
Ensembl chr 2:4,814,140...4,839,626
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9497256 NCBI chr 4:36,662,033...36,691,761
Ensembl chr 4:36,665,009...36,684,257
JBrowse link
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr11:98,065,869...98,140,011
Ensembl chr11:98,063,199...98,139,285
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 chr27:8,602,764...8,608,052
Ensembl chr27:8,603,484...8,606,299
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 chr 9:38,746,088...38,798,773
Ensembl chr 9:38,769,170...38,796,712
JBrowse link
G TLX3 T cell leukemia homeobox 3 ISO OMIM:209880 MouseDO NCBI chr23:73,486,002...73,488,935
Ensembl chr23:73,486,154...73,488,396
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 chr11:98,182,213...98,185,057
Ensembl chr11:98,182,787...98,183,506
JBrowse link
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:14532329 NCBI chr11:98,065,869...98,140,011
Ensembl chr11:98,063,199...98,139,285
JBrowse link
G PHOX2B paired like homeobox 2B ISO ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | ClinVar Annotator: match by term: Haddad syndrome ClinVar
OMIM
PMID:9536098 PMID:10613788 PMID:12631670 PMID:12640453 PMID:14709596 More... NCBI chr27:8,602,764...8,608,052
Ensembl chr27:8,603,484...8,606,299
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 chr11:104,575,208...104,683,418
Ensembl chr11:104,629,619...104,683,000
JBrowse link
Congenital Central Hypoventilation Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBX1 ladybird homeobox 1 ISO ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 3 OMIM
ClinVar
PMID:30487221 NCBI chr 9:94,247,931...94,251,092
Ensembl chr 9:94,249,000...94,250,545
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 chr16:45,206,233...45,215,761
Ensembl chr16:45,206,377...45,207,591
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 chr11:102,200,822...102,306,165
Ensembl chr11:102,204,224...102,306,182
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 chr 8:23,077,085...23,083,213
Ensembl chr 8:23,077,086...23,083,222
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 chr 2:33,368,020...33,384,556
Ensembl chr 2:33,369,629...33,370,366
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 chr 2:4,814,447...4,839,950
Ensembl chr 2:4,814,140...4,839,626
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:102,693,508...102,817,076
Ensembl chr  X:102,693,458...102,817,001
JBrowse link
G MAP4 microtubule associated protein 4 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr22:9,239,983...9,461,438
Ensembl chr22:9,242,309...9,394,713
JBrowse link
G MTMR8 myotubularin related protein 8 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr  X:54,656,054...54,765,846
Ensembl chr  X:54,656,506...54,731,548
JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr  X:128,353,262...128,359,222
Ensembl chr  X:128,352,634...128,359,085
JBrowse link
G PLXND1 plexin D1 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar PMID:28492532 NCBI chr22:51,440,797...51,493,370
Ensembl chr22:51,441,127...51,495,118
JBrowse link
narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD40LG CD40 ligand ISO protein:decreased expression:serum (human) RGD PMID:21669245 RGD:11352261 NCBI chr  X:111,655,301...111,667,602
Ensembl chr  X:111,655,397...111,666,639
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 chr19:33,055,296...33,059,442
Ensembl chr19:33,055,294...33,059,230
JBrowse link
G CPT1B carnitine palmitoyltransferase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18820697 NCBI chr19:33,044,272...33,055,197
Ensembl chr19:33,043,916...33,054,247
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
early-onset narcolepsy; DNA:transversion:CDS:amino acid L16R; mutation only found in a single case
RGD
MouseDO
PMID:10973318 PMID:11148249 PMID:11723284 RGD:1600919 RGD:1600922 RGD:1600923 NCBI chr16:64,083,199...64,085,393
Ensembl chr16:64,084,070...64,085,292
JBrowse link
G HCRTR2 hypocretin receptor 2 ISO Narcolepsy
OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250
CTD Direct Evidence: marker/mechanism
OMIA
MouseDO
CTD
PMID:72649 PMID:562026 PMID:574310 PMID:945254 PMID:1393561 More... NCBI chr17:16,258,262...16,371,576
Ensembl chr17:16,258,439...16,294,204
JBrowse link
G MHC-DPB1 major histocompatibility complex, class II, DP beta 1 susceptibility ISO DNA:polymorphisms, haplotypes: :multiple (human) RGD PMID:25574827 RGD:150429810 NCBI chr17:38,996,329...39,007,097 JBrowse link
G MHC-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility ISO DNA:polymorphisms:cds:multiple RGD PMID:11179016 RGD:5147861 NCBI chr17:39,422,445...39,428,777
Ensembl chr17:39,420,134...39,428,871
JBrowse link
G MOG myelin oligodendrocyte glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:42,947,174...42,963,046
Ensembl chr17:42,947,279...42,962,159
JBrowse link
G P2RY11 purinergic receptor P2Y11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21170044 NCBI chr 6:9,180,132...9,183,643 JBrowse link
G PENK proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 8:52,458,113...52,463,933
Ensembl chr 8:52,457,904...52,463,859
JBrowse link
G SOCS2 suppressor of cytokine signaling 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr11:88,964,805...88,971,147
Ensembl chr11:88,966,940...88,971,515
JBrowse link
G TAC1 tachykinin precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr21:51,339,085...51,347,561
Ensembl chr21:51,339,095...51,347,550
JBrowse link
G TRH thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:2845442 NCBI chr22:51,075,814...51,079,852
Ensembl chr22:51,076,157...51,078,236
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 chr16:64,083,199...64,085,393
Ensembl chr16:64,084,070...64,085,292
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 chr17:42,947,174...42,963,046
Ensembl chr17:42,947,279...42,962,159
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 chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274
JBrowse link
G ADORA1 adenosine A1 receptor ISO RGD PMID:18787037 RGD:5129100 NCBI chr25:26,180,898...26,221,424
Ensembl chr25:26,182,446...26,220,776
JBrowse link
G ADRB1 adrenoceptor beta 1 susceptibility ISO associated with Hypertension;DNA:polymorphism: :p.R389G (human) RGD PMID:20948559 RGD:4145102 NCBI chr 9:106,920,520...106,923,424
Ensembl chr 9:106,920,610...106,922,058
JBrowse link
G BDNF brain derived neurotrophic factor ISO RGD PMID:16061712 RGD:4891119 NCBI chr 1:37,386,825...37,451,380
Ensembl chr 1:37,449,593...37,450,336
JBrowse link
G BMP7 bone morphogenetic protein 7 ISO OMIM:107650 MouseDO NCBI chr 2:6,856,396...6,954,948
Ensembl chr 2:6,856,453...6,954,944
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:increased expression:plasma RGD PMID:20855682 RGD:4891459 NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416
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 chr16:29,351,214...29,361,317 JBrowse link
G CRP C-reactive protein ISO RGD PMID:21493247 RGD:5131290 NCBI chr20:4,232,262...4,235,826
Ensembl chr20:4,232,913...4,235,377
JBrowse link
G CXCL6 C-X-C motif chemokine ligand 6 ISO protein:increased expression:serum RGD PMID:15988615 RGD:4892031 NCBI chr 7:22,291,949...22,294,191
Ensembl chr 7:22,292,045...22,294,207
JBrowse link
G CYSLTR1 cysteinyl leukotriene receptor 1 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chr 3:26,578,248...26,624,364 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 chr17:59,854,186...59,861,319
Ensembl chr17:59,853,699...59,861,198
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 chr 7:93,980,983...94,043,863
Ensembl chr 7:93,985,797...94,042,296
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 chr 2:26,482,734...26,493,761
Ensembl chr 2:26,487,973...26,493,499
JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr22:46,326,458...46,332,906
Ensembl chr22:46,325,913...46,330,962
JBrowse link
G GHSR growth hormone secretagogue receptor ISO protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr15:17,008,185...17,013,504
Ensembl chr15:17,009,369...17,012,618
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 chr16:64,083,199...64,085,393
Ensembl chr16:64,084,070...64,085,292
JBrowse link
G HMOX1 heme oxygenase 1 ISO RGD PMID:17511582 RGD:4145404 NCBI chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased secretion:plasma (human) RGD PMID:20004360 RGD:4145463 NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263
JBrowse link
G IL10 interleukin 10 ISO RGD PMID:22143914 RGD:11049492 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
JBrowse link
G IL1B interleukin 1 beta ISO protein:decreased expression:serum
protein:increased expression:plasma (rat)
RGD PMID:19342292 PMID:20040038 RGD:4142829 RGD:4142845 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum RGD PMID:20668869 RGD:4143251 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237
JBrowse link
G LEP leptin ISO protein:increased expression:plasma RGD PMID:18606530 RGD:5128817 NCBI chr21:97,056,913...97,071,161
Ensembl chr21:97,057,529...97,071,220
JBrowse link
G LEPR leptin receptor susceptibility ISO DNA:polymorphism:exon:p.Q223R (human) RGD PMID:18204169 RGD:5128855 NCBI chr20:67,454,205...67,567,524
Ensembl chr20:67,454,334...67,524,229
JBrowse link
G LOC103233451 cytochrome b-245 light chain severity ISO mRNA, protein:increased expression:sputum, macrophage, neutrophil RGD PMID:20367952 RGD:4266589 NCBI chr 5:74,023,134...74,030,793
Ensembl chr 5:74,023,082...74,030,750
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 chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
JBrowse link
G MUC1 mucin 1, cell surface associated ISO protein:increased expression:plasma RGD PMID:19336590 RGD:5131166 NCBI chr20:8,641,701...8,646,739
Ensembl chr20:8,642,842...8,646,962
JBrowse link
G NGF nerve growth factor ISO RGD PMID:17667845 RGD:5144120 NCBI chr20:18,361,795...18,413,987
Ensembl chr20:18,413,108...18,413,833
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 chr16:21,533,011...21,576,645
Ensembl chr16:21,533,484...21,574,257
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 chr21:119,174,829...119,196,840 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 chr23:45,904,926...46,031,804
Ensembl chr23:45,904,873...46,031,125
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO RGD PMID:17667845 RGD:5144120 NCBI chr20:6,987,903...7,027,381
Ensembl chr20:6,987,905...7,008,670
JBrowse link
G PLA2G7 phospholipase A2 group VII ISO RGD PMID:21698055 RGD:6482785 NCBI chr17:25,538,645...25,571,230
Ensembl chr17:25,538,438...25,574,269
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:endothelial cell RGD PMID:18413499 RGD:4891909 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:monocyte RGD PMID:17013605 RGD:2298862 NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: SLEEP APNEA/HYPOPNEA SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788
JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:18330639 RGD:4144837 NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202
JBrowse link
G SFTPB surfactant protein B ISO protein:decreased expression:serum: RGD PMID:25953386 RGD:151667446 NCBI chr14:21,487,424...21,497,491
Ensembl chr14:21,488,387...21,499,850
JBrowse link
G SLC6A4 solute carrier family 6 member 4 no_association ISO DNA:polymorphism:promoter (human)
DNA:polymorphism, repeat:promoter, intron (human)
RGD PMID:15867649 PMID:16215942 PMID:19014073 RGD:4889462 RGD:4889463 RGD:4889466 NCBI chr16:23,929,196...23,969,665
Ensembl chr16:23,927,311...23,955,616
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 chr24:41,054,609...41,443,067
Ensembl chr24:41,054,621...41,443,436
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
G TNFRSF1A TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:19148690 RGD:5131433 NCBI chr11:6,364,544...6,378,880
Ensembl chr11:6,364,330...6,378,902
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 chr19:33,055,296...33,059,442
Ensembl chr19:33,055,294...33,059,230
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 chr17:33,501,404...33,969,562 JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase ISO protein:decreased expression:brain RGD PMID:21570342 RGD:6483334 NCBI chr16:64,288,583...64,296,940
Ensembl chr16:64,289,828...64,296,922
JBrowse link
G DRD3 dopamine receptor D3 ISO OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197 MouseDO NCBI chr22:66,683,987...66,737,645
Ensembl chr22:66,691,177...66,736,690
JBrowse link
G MEIS1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17637780 PMID:28604731 NCBI chr14:40,473,148...40,613,245
Ensembl chr14:40,471,063...40,611,071
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18464280 NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447
JBrowse link
G PTPRD protein tyrosine phosphatase receptor type D treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18660810 PMID:37633178 RGD:401976430 NCBI chr12:70,160,253...71,237,292
Ensembl chr12:70,693,214...71,239,437
JBrowse link
G SLC11A2 solute carrier family 11 member 2 ISO mRNA, protein:increased expression:pons, thalamus RGD PMID:21710629 RGD:5688410 NCBI chr11:47,190,138...47,238,543
Ensembl chr11:47,197,168...47,235,130
JBrowse link
G TF transferrin ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16930377 PMID:23369046 RGD:7244177 NCBI chr15:56,586,311...56,618,304
Ensembl chr15:56,586,104...56,618,149
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 chr15:81,128,427...81,142,779
Ensembl chr15:81,129,795...81,147,391
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 chr20:105,187,943...105,257,767
Ensembl chr20:105,239,747...105,244,558
JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18555211 NCBI chr15:23,708,121...23,778,027
Ensembl chr15:23,708,155...23,778,286
JBrowse link
G IL18 interleukin 18 severity ISO RGD PMID:19187612 RGD:4889903 NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150
JBrowse link
G IL6R interleukin 6 receptor ISO RGD PMID:16983050 RGD:5128666 NCBI chr20:9,345,723...9,418,963
Ensembl chr20:9,361,152...9,396,610
JBrowse link
G LEPR leptin receptor ISO RGD PMID:11896492 RGD:5128873 NCBI chr20:67,454,205...67,567,524
Ensembl chr20:67,454,334...67,524,229
JBrowse link
G S100B S100 calcium binding protein B ISO protein:increased expression:cerebral cortex, hippocampus, astrocyte RGD PMID:20002528 RGD:5508790 NCBI chr 2:90,188,820...90,194,986
Ensembl chr 2:90,188,639...90,195,023
JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:increased expression:plasma RGD PMID:20508215 RGD:4144827 NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202
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 chr13:97,661,905...97,678,640
Ensembl chr13:97,660,864...97,681,497
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 1:108,659,723...108,689,879
Ensembl chr 1:108,657,584...108,689,843
JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO RGD PMID:25450575 RGD:10059355 NCBI chr 1:37,386,825...37,451,380
Ensembl chr 1:37,449,593...37,450,336
JBrowse link
G CST3 cystatin C ISO RGD PMID:17027151 RGD:2306498 NCBI chr 2:52,834,497...52,838,785
Ensembl chr 2:52,832,181...52,838,865
JBrowse link
G CTSH cathepsin H ISO RGD PMID:17027151 RGD:2306498 NCBI chr26:4,451,731...4,473,220
Ensembl chr26:4,451,774...4,472,855
JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO mRNA:decreased expression:cerebral cortex RGD PMID:16923172 RGD:2313667 NCBI chr 1:103,379,165...103,419,585
Ensembl chr 1:103,380,426...103,420,386
JBrowse link
G DRD1 dopamine receptor D1 ISO protein:increased expression:hypothalamus RGD PMID:25433096 RGD:13506946 NCBI chr23:77,587,340...77,591,434 JBrowse link
G EEF2 eukaryotic translation elongation factor 2 ISO protein:hyperphosphorylation:prefrontal cortex, dentate gyrus; RGD PMID:22917528 RGD:10401259 NCBI chr 6:3,733,056...3,742,526
Ensembl chr 6:3,732,425...3,742,826
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO protein:decreased expression:hippocampus (rat) RGD PMID:20237303 RGD:4107020 NCBI chr11:13,444,155...13,873,034
Ensembl chr11:13,456,968...13,873,202
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:increased expression:hippocampus, cortex, amygdala: RGD PMID:21621560 RGD:11059509 NCBI chr 8:28,778,713...28,851,907 JBrowse link
G JPH3 junctophilin 3 ISO mRNA:increased expression:brain RGD PMID:18077435 RGD:6480426 NCBI chr 5:72,972,373...73,095,710
Ensembl chr 5:72,972,361...73,094,231
JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 ISO mRNA, protein:decreased expression:mandible condylar process RGD PMID:23859770 RGD:7495827 NCBI chr16:11,366,610...11,485,411
Ensembl chr16:11,366,751...11,486,125
JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase ISO RNA:increased expression:liver: RGD PMID:28860003 RGD:13781877 NCBI chr21:75,160,748...75,195,781
Ensembl chr21:75,158,596...75,196,025
JBrowse link
G NGB neuroglobin ISO protein:decreased expression:brain RGD PMID:23262504 RGD:9743966 NCBI chr24:54,510,877...54,518,535
Ensembl chr24:54,511,924...54,516,210
JBrowse link
G NRGN neurogranin ISO RGD PMID:7583240 RGD:9835425 NCBI chr 1:115,888,289...115,895,809
Ensembl chr 1:115,894,095...115,894,313
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16343605 NCBI chr12:17,195,403...17,218,450
Ensembl chr12:17,192,628...17,218,315
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:brain RGD PMID:18077435 RGD:6480426 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
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 chr19:7,691,678...7,706,781
Ensembl chr19:7,691,536...7,706,926
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 chr26:55,319,667...55,543,116
Ensembl chr26:55,471,907...55,538,855
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A treatment ISO RGD PMID:20684606 RGD:401938599 NCBI chr 3:24,820,029...24,884,472
Ensembl chr 3:24,820,035...24,883,432
JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20199424 NCBI chr12:11,443,253...11,526,789
Ensembl chr12:11,444,324...11,526,552
JBrowse link
G MEIS1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28604731 NCBI chr14:40,473,148...40,613,245
Ensembl chr14:40,471,063...40,611,071
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO DNA:SNP:cds:p.G482S (rs8192678) (human) RGD PMID:22392034 RGD:6484261 NCBI chr27:25,882,385...26,563,530
Ensembl chr27:26,465,499...26,564,582
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 chr22:10,497,921...10,507,673
Ensembl chr22:10,497,658...10,507,325
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17472
    disease of anatomical entity 14820
      nervous system disease 12887
        Neurologic Manifestations 9354
          sleep disorder 146
            Dyssomnias 122
              Intrinsic Sleep Disorders + 98
              Sleep Deprivation 16
              advanced sleep phase syndrome + 9
Path 2
Term Annotations click to browse term
  disease 17472
    disease of anatomical entity 14820
      nervous system disease 12887
        central nervous system disease 11554
          brain disease 10840
            disease of mental health 7799
              sleep disorder 146
                Dyssomnias 122
                  Intrinsic Sleep Disorders + 98
                  Sleep Deprivation 16
                  advanced sleep phase syndrome + 9
paths to the root