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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Intrinsic Sleep Disorders
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Accession:DOID:9000166 term browser browse the term
Definition:Dyssomnias (i.e., insomnias or hypersomnias) associated with dysfunction of internal sleep mechanisms or secondary to a sleep-related medical disorder (e.g., sleep apnea, post-traumatic sleep disorders, etc.). (From Thorpy, Sleep Disorders Medicine, 1994, p187)
Synonyms:exact_synonym: Intrinsic Sleep Disorder;   Post-Traumatic Hypersomnia;   Posttraumatic Hypersomnia;   Posttraumatic Hypersomnias;   Sleep State Misperception;   post-traumatic hypersomnias;   sleep state misperceptions
 primary_id: MESH:D020919
 alt_id: RDO:0005851
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Intrinsic Sleep Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn3 endothelin 3 ISO congenital central hypoventilation syndrome (CCHS), OMIM:209880;DNA:insertion:exon RGD PMID:8696331 RGD:1601002 NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093
JBrowse link
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy OMIM
ClinVar
PMID:8747854 PMID:22328086 PMID:25741868 PMID:28492532 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
Cataplexy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn3 ataxin 3 ISO RGD PMID:15128861 RGD:1358427 NCBI chr 6:121,072,228...121,107,902
Ensembl chr 6:121,074,448...121,107,902
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Cataplexy ClinVar PMID:10521290 PMID:11333381 PMID:11349231 PMID:11479732 PMID:11754101 More... NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO associated with Narcolepsy;DNA:polymorphism (human) RGD PMID:17297265 RGD:5147632 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
CATAPLEXY AND NARCOLEPSY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif3g eukaryotic translation initiation factor 3, subunit G ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr 8:19,429,728...19,433,760
Ensembl chr 8:19,429,643...19,433,808
JBrowse link
G LOC102552569 P2Y purinoceptor 11-like ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430
G Ppan peter pan homolog ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr 8:19,423,908...19,427,941
Ensembl chr 8:19,423,961...19,427,938
JBrowse link
central sleep apnea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Apnea, central sleep ClinVar PMID:25741868 PMID:28492532 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
JBrowse link
G Nos3 nitric oxide synthase 3 ISO associated with heart failure; protein:decreased expression:serum RGD PMID:16806535 RGD:4892059 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Tac1 tachykinin, precursor 1 IMP RGD PMID:18420958 RGD:2304275 NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
JBrowse link
G Tacr1 tachykinin receptor 1 IMP RGD PMID:18420958 RGD:2304275 NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733
JBrowse link
congenital central hypoventilation syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ascl1 achaete-scute family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr 7:21,904,153...21,906,003
Ensembl chr 7:21,903,126...21,905,993
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar
RGD
PMID:25741868 PMID:11840487 RGD:734643 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Edn3 endothelin 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital central hypoventilation
CTD
ClinVar
PMID:8696331 PMID:19556619 PMID:24033266 PMID:28492532 NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9497256 NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
JBrowse link
G Phox2b paired-like homeobox 2b ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: Ondine-Hirschsprung disease
DNA:duplication: :c.691_698dup (human)
DNA:repeats
CTD
ClinVar
RGD
PMID:10613788 PMID:12640453 PMID:14566559 PMID:14608649 PMID:14709596 More... RGD:11058834, RGD:12910557 NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital central hypoventilation
CTD
ClinVar
PMID:3078962 PMID:7824936 PMID:7835899 PMID:7907913 PMID:7915165 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G Tlx3 T-cell leukemia, homeobox 3 ISS OMIM:209880 MouseDO NCBI chr10:17,789,706...17,792,207
Ensembl chr10:17,790,053...17,792,207
JBrowse link
Congenital Central Hypoventilation Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ascl1 achaete-scute family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:14532329 NCBI chr 7:21,904,153...21,906,003
Ensembl chr 7:21,903,126...21,905,993
JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Haddad syndrome OMIM
ClinVar
PMID:9536098 PMID:10613788 PMID:12640453 PMID:14709596 PMID:15024693 More... NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
JBrowse link
Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo1h myosin IH ISO ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM
ClinVar
PMID:25741868 PMID:28779001 NCBI chr12:42,248,942...42,300,103
Ensembl chr12:42,247,138...42,323,730
JBrowse link
Congenital Central Hypoventilation Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbx1 ladybird homeobox 1 ISO ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 3 OMIM
ClinVar
PMID:30487221 NCBI chr 1:244,083,873...244,085,690
Ensembl chr 1:244,083,873...244,085,690
JBrowse link
fatal familial insomnia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir146a microRNA 146a susceptibility ISO miRNA:SNP: (rs57095329) (human) RGD PMID:29216791 RGD:126925194 NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:30048013 RGD:127285394 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Prnp prion protein ISO ClinVar Annotator: match by term: Fatal familial insomnia OMIM
ClinVar
PMID:1351274 PMID:1404799 PMID:1439789 PMID:1469441 PMID:1671440 More... NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
JBrowse link
Idiopathic Hypersomnolence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism (human) RGD PMID:19927159 RGD:5147660 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:19927159 RGD:5147660 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Chkb choline kinase beta susceptibility ISO DNA:SNP, haplotype:3' utr:c.*257A>G (rs5770917) (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18820697 PMID:18820697 RGD:6483443 NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461
JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18820697 NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404
JBrowse link
G Hcrt hypocretin neuropeptide precursor no_association ISS
ISO
OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250
DNA:polymorphism:5' UTR:no association with either -909C-T polymorphism or -22T allele (aka 3250T allele)
MouseDO
RGD
PMID:11723284 RGD:1600923 NCBI chr10:85,689,992...85,691,206
Ensembl chr10:85,689,465...85,691,210
JBrowse link
G Hcrtr2 hypocretin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 8:76,989,834...77,105,893
Ensembl chr 8:76,989,834...77,105,893
JBrowse link
G LOC102552569 P2Y purinoceptor 11-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:21170044
G Mog myelin oligodendrocyte glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:1,513,137...1,523,473
Ensembl chr20:1,513,239...1,523,474
JBrowse link
G Penk proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 5:17,183,799...17,189,160
Ensembl chr 5:17,183,806...17,189,129
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:cds:multiple RGD PMID:11179016 RGD:5147861 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:multiple
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20711174 PMID:11179016 RGD:5147861 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20711174 PMID:11179016 RGD:5147861 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Socs2 suppressor of cytokine signaling 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 7:30,006,360...30,045,161
Ensembl chr 7:30,008,578...30,043,548
JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:2845442 NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
JBrowse link
Narcolepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcrt hypocretin neuropeptide precursor ISO ClinVar Annotator: match by term: Narcolepsy 1 OMIM
ClinVar
PMID:10973318 NCBI chr10:85,689,992...85,691,206
Ensembl chr10:85,689,465...85,691,210
JBrowse link
Narcolepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mog myelin oligodendrocyte glycoprotein ISO ClinVar Annotator: match by term: Narcolepsy 7 OMIM
ClinVar
PMID:21907016 PMID:25741868 NCBI chr20:1,513,137...1,523,473
Ensembl chr20:1,513,239...1,523,474
JBrowse link
obstructive sleep apnea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A IEP mRNA:increased expression:heart left ventricle, liver RGD PMID:19323616 RGD:4890033 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
JBrowse link
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B IEP mRNA:increased expression:heart left ventricle RGD PMID:19323616 RGD:4890033 NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199
JBrowse link
G Ace angiotensin I converting enzyme severity
susceptibility
ISO
IEP
associated with Hypertension;DNA:polymorphism (human)
mRNA:increased expression:cardiac atrium
RGD PMID:19482546 PMID:24775918 PMID:20182789 RGD:4140917, RGD:11039043, RGD:4140915 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Adora1 adenosine A1 receptor IMP RGD PMID:18787037 RGD:5129100 NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801
JBrowse link
G Adrb1 adrenoceptor beta 1 susceptibility ISO associated with Hypertension;DNA:polymorphism: :p.R389G (human) RGD PMID:20948559 RGD:4145102 NCBI chr 1:255,772,217...255,773,617
Ensembl chr 1:255,771,597...255,807,259
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO RGD PMID:16061712 RGD:4891119 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Bmp7 bone morphogenetic protein 7 ISS OMIM:107650 MouseDO NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:plasma RGD PMID:20855682 RGD:4891459 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 severity ISO mRNA:increased expression:faucial pillar, muscle (human) RGD PMID:20847078 RGD:4891917 NCBI chr10:68,322,826...68,327,365
Ensembl chr10:68,322,829...68,327,377
JBrowse link
G Crp C-reactive protein ISO RGD PMID:21493247 RGD:5131290 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO protein:increased expression:serum RGD PMID:15988615 RGD:4892031 NCBI chr14:17,310,089...17,312,303
Ensembl chr14:17,310,426...17,313,093
JBrowse link
G Cyba cytochrome b-245 alpha chain severity ISO mRNA, protein:increased expression:sputum, macrophage, neutrophil RGD PMID:20367952 RGD:4266589 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chr  X:71,661,415...71,690,158
Ensembl chr  X:71,663,821...71,690,121
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chr15:48,190,251...48,229,906
Ensembl chr15:48,189,073...48,304,136
JBrowse link
G Edn1 endothelin 1 ISO
IEP
DNA:polymorphism:exon:p.K198N (human)
protein:increased expression:myocardium (rat)
protein:increased secretion:plasma (human)
RGD PMID:18580062 PMID:19358946 PMID:17198911 RGD:4145075, RGD:4145067, RGD:4144901 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Ednra endothelin receptor type A IEP
ISO
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :-231G>A (human)
CTD
RGD
PMID:20083432 PMID:19358946 PMID:20083432 RGD:4145067, RGD:4892306 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
G Ghrh growth hormone releasing hormone treatment ISO protein:decreased expression:plasma (human) RGD PMID:16750036 PMID:23815362 RGD:5687742, RGD:10401240 NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide IEP protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
JBrowse link
G Ghsr growth hormone secretagogue receptor IEP protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
JBrowse link
G Hcrt hypocretin neuropeptide precursor ISO RGD PMID:15627867 RGD:1600936 NCBI chr10:85,689,992...85,691,206
Ensembl chr10:85,689,465...85,691,210
JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:17511582 RGD:4145404 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hp haptoglobin ISO RGD PMID:19566894 RGD:5147384 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased secretion:plasma (human) RGD PMID:20004360 RGD:4145463 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Il10 interleukin 10 IEP RGD PMID:22143914 RGD:11049492 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il1b interleukin 1 beta ISO
IEP
protein:decreased expression:serum
protein:increased expression:plasma (rat)
RGD PMID:20040038 PMID:19342292 RGD:4142829, RGD:4142845 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum RGD PMID:20668869 RGD:4143251 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Lep leptin ISO protein:increased expression:plasma RGD PMID:18606530 RGD:5128817 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphism:exon:p.Q223R (human) RGD PMID:18204169 RGD:5128855 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO protein:increased expression:palatopharyngeal muscle RGD PMID:20836084 PMID:19652426 RGD:5129212, RGD:5130877 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:plasma RGD PMID:19336590 RGD:5131166 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Ngf nerve growth factor ISO RGD PMID:17667845 RGD:5144120 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Nos2 nitric oxide synthase 2 severity ISO protein:decreased expression, decreased phosphorylation:endothelial cell
associated with obesity; protein:increased expression:sputum
RGD PMID:18413499 PMID:18098375 RGD:4891909, RGD:4891935 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nos3 nitric oxide synthase 3 severity ISO DNA:polymorphism:exon: p. E298D (human)
protein:decreased expression, decreased phosphorylation:endothelial cells
associated with heart failure; protein:decreased expression:serum
protein:increased expression:endothelial cell
RGD PMID:18651156 PMID:20159829 PMID:16806535 PMID:18413499 RGD:4892052, RGD:4892051, RGD:4892059, RGD:4891909 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO mRNA, protein:increased expression:lymphoid tissue: RGD PMID:15611350 RGD:4892608 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO RGD PMID:17667845 RGD:5144120 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:21698055 RGD:6482785 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:endothelial cell RGD PMID:18413499 RGD:4891909 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:monocyte RGD PMID:17013605 RGD:2298862 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: SLEEP APNEA/HYPOPNEA SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:18330639 RGD:4144837 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Sftpb surfactant protein B ISO protein:decreased expression:serum: RGD PMID:25953386 RGD:151667446 NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
JBrowse link
G Slc6a4 solute carrier family 6 member 4 no_association ISO DNA:polymorphism, repeat:promoter, intron (human)
DNA:polymorphism:promoter (human)
RGD PMID:15867649 PMID:19014073 PMID:16215942 RGD:4889466, RGD:4889462, RGD:4889463 NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Obstructive sleep apnea syndrome ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO DNA:polymorphism:promoter: c.-308G>A (human)
protein:increased expression:plasma
RGD PMID:19022640 PMID:14633242 PMID:20846669 RGD:4143442, RGD:4142857, RGD:4143435 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:19148690 RGD:5131433 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
recurrent hypersomnia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chkb choline kinase beta susceptibility ISO DNA:SNP: :rs5770917 (human) RGD PMID:19404393 RGD:6483442 NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461
JBrowse link
restless legs syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btbd9 BTB domain containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17637780 NCBI chr20:8,286,337...8,645,567
Ensembl chr20:8,288,711...8,643,960
JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO protein:decreased expression:brain RGD PMID:21570342 RGD:6483334 NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720
JBrowse link
G Drd3 dopamine receptor D3 ISS OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197 MouseDO NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596
JBrowse link
G Meis1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17637780 PMID:28604731 NCBI chr14:93,155,426...93,294,373
Ensembl chr14:93,155,419...93,294,265
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18464280 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
JBrowse link
G Ptprd protein tyrosine phosphatase, receptor type, D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18660810 NCBI chr 5:90,046,993...90,698,977
Ensembl chr 5:90,048,966...92,369,396
JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO mRNA, protein:increased expression:pons, thalamus RGD PMID:21710629 RGD:5688410 NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16930377 PMID:23369046 RGD:7244177 NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
JBrowse link
sleep apnea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO RGD PMID:19913847 RGD:5686853 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Sleep apnea ClinVar PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 NCBI chr 5:145,228,228...145,294,170
Ensembl chr 5:145,228,227...145,294,145
JBrowse link
G Apoe apolipoprotein E ISO GAD PMID:15118671 RGD:1331525 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18555211 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
JBrowse link
G Il18 interleukin 18 severity ISO RGD PMID:19187612 RGD:4889903 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il6r interleukin 6 receptor ISO RGD PMID:16983050 RGD:5128666 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
JBrowse link
G Lepr leptin receptor ISO RGD PMID:11896492 RGD:5128873 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G S100b S100 calcium binding protein B IEP protein:increased expression:cerebral cortex, hippocampus, astrocyte RGD PMID:20002528 RGD:5508790 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma RGD PMID:20508215 RGD:4144827 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Tbp TATA box binding protein ISO associated with Sudden Infant Death; protein:altered expression:brainstem (human) RGD PMID:14693397 RGD:5684350 NCBI chr 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016
JBrowse link
Sleep Initiation and Maintenance Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adora2a adenosine A2a receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20532872 NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO DNA:point mutation:exon:R192H
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Insomnia
CTD
ClinVar
RGD
PMID:11742254 PMID:12189488 PMID:25741868 PMID:28492532 PMID:12189488 RGD:1601268 NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20199424 NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
JBrowse link
G Meis1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28604731 NCBI chr14:93,155,426...93,294,373
Ensembl chr14:93,155,419...93,294,265
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO DNA:SNP:cds:p.G482S (rs8192678) (human) RGD PMID:22392034 RGD:6484261 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Insomnia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
JBrowse link
G RT1-Bb RT1 class II, locus Bb severity ISO DNA:polymorphism:cds:HLA-DQB1*0602 (human) RGD PMID:21292329 RGD:5147604 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        Neurologic Manifestations 6148
          sleep disorder 147
            Dyssomnias 122
              Intrinsic Sleep Disorders 98
                Sleep Initiation and Maintenance Disorders + 10
                periodic limb movement disorder 0
                recurrent hypersomnia + 19
                restless legs syndrome + 8
                sleep apnea + 65
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        central nervous system disease 11297
          brain disease 10584
            disease of mental health 7496
              sleep disorder 147
                Dyssomnias 122
                  Intrinsic Sleep Disorders 98
                    Sleep Initiation and Maintenance Disorders + 10
                    periodic limb movement disorder 0
                    recurrent hypersomnia + 19
                    restless legs syndrome + 8
                    sleep apnea + 65
paths to the root