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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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



show annotations for term's descendants           Sort by:
 
Dyssomnias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rai1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19752160 NCBI chr11:59,995,743...60,090,023
Ensembl chr11:59,995,839...60,090,023
JBrowse link
advanced sleep phase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aanat arylalkylamine N-acetyltransferase ISO DNA:missense mutation:cds:p.A129T(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12736803 PMID:12736803 RGD:1300232 NCBI chr11:116,482,547...116,489,022
Ensembl chr11:116,477,258...116,488,506
JBrowse link
G Bhlhe40 basic helix-loop-helix family, member e40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr 6:108,637,590...108,643,886
Ensembl chr 6:108,637,590...108,643,886
JBrowse link
G Cry1 cryptochrome 1 (photolyase-like) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:84,967,564...85,020,918
Ensembl chr10:84,967,564...85,020,928
JBrowse link
G Nfil3 nuclear factor, interleukin 3, regulated ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr13:53,121,245...53,136,914
Ensembl chr13:53,121,245...53,135,109
JBrowse link
G Per2 period circadian clock 2 ISO familial advanced sleep-phase syndrome, OMIM:604348, DNA:point mutation:exon:S662G RGD PMID:11232563 RGD:1600411 NCBI chr 1:91,343,699...91,387,072
Ensembl chr 1:91,343,704...91,387,046
JBrowse link
G Per3 period circadian clock 3 ISO DNA:missense mutations:cds:multiple (human) RGD PMID:11306557 RGD:1358557 NCBI chr 4:151,081,475...151,129,167
Ensembl chr 4:151,088,109...151,129,122
JBrowse link
G Rorc RAR-related orphan receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr 3:94,280,101...94,305,583
Ensembl chr 3:94,280,101...94,305,583
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 chr11:120,848,535...120,882,180
Ensembl chr11:120,849,816...120,882,156
JBrowse link
G Per2 period circadian clock 2 ISO
IAGP
ClinVar Annotator: match by term: Advanced sleep phase syndrome 1
OMIM:604348
OMIM
ClinVar
MouseDO
PMID:11232563 PMID:25741868 NCBI chr 1:91,343,699...91,387,072
Ensembl chr 1:91,343,704...91,387,046
JBrowse link
G Per3 period circadian clock 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:151,081,475...151,129,167
Ensembl chr 4:151,088,109...151,129,122
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 chr11:120,848,535...120,882,180
Ensembl chr11:120,849,816...120,882,156
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 clock 3 ISO ClinVar Annotator: match by term: Advanced sleep phase syndrome 3 ClinVar
OMIM
PMID:25741868 PMID:26903630 NCBI chr 4:151,081,475...151,129,167
Ensembl chr 4:151,088,109...151,129,122
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 clock 1 ISO OMIM NCBI chr10:128,067,932...128,088,810
Ensembl chr10:128,067,934...128,088,810
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 (cytosine-5) 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 9:20,818,501...20,871,184
Ensembl chr 9:20,818,505...20,871,184
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 chr12:101,885,160...101,928,139
Ensembl chr12:101,885,160...101,924,505
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO associated with Narcolepsy;DNA:polymorphism (human) RGD PMID:17297265 RGD:5147632 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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 chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457
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 9:20,805,645...20,809,886
Ensembl chr 9:20,805,645...20,809,919
JBrowse link
G Ppan peter pan homolog ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr 9:20,799,471...20,803,475
Ensembl chr 9:20,799,471...20,803,474
JBrowse link
central sleep apnea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chat choline acetyltransferase ISO ClinVar Annotator: match by term: Apnea, central sleep ClinVar PMID:25741868 PMID:28492532 NCBI chr14:32,130,160...32,187,866
Ensembl chr14:32,130,160...32,187,946
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO associated with heart failure; protein:decreased expression:serum RGD PMID:16806535 RGD:4892059 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
JBrowse link
G Tac1 tachykinin 1 ISO RGD PMID:18420958 RGD:2304275 NCBI chr 6:7,555,061...7,562,978
Ensembl chr 6:7,554,879...7,565,834
JBrowse link
G Tacr1 tachykinin receptor 1 ISO RGD PMID:18420958 RGD:2304275 NCBI chr 6:82,378,990...82,537,085
Ensembl chr 6:82,379,315...82,537,085
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 chr10:87,326,681...87,329,522
Ensembl chr10:87,326,681...87,329,522
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 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
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 2:174,602,412...174,625,835
Ensembl chr 2:174,602,412...174,625,835
JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9497256 NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr10:87,357,657...87,419,999
Ensembl chr10:87,357,657...87,419,998
JBrowse link
G Phox2b paired-like homeobox 2b ISO
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: Ondine-Hirschsprung disease
OMIM:209880
DNA:duplication: :c.691_698dup (human)
DNA:repeats
CTD
ClinVar
MouseDO
RGD
PMID:10613788 PMID:12640453 PMID:14566559 PMID:14608649 PMID:14709596 More... RGD:11058834, RGD:12910557 NCBI chr 5:67,251,740...67,256,469
Ensembl chr 5:67,251,742...67,256,644
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 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679
JBrowse link
G Tlx3 T cell leukemia, homeobox 3 IAGP OMIM:209880 MouseDO NCBI chr11:33,150,748...33,158,588
Ensembl chr11:33,150,752...33,153,589
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 chr10:87,326,681...87,329,522
Ensembl chr10:87,326,681...87,329,522
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:14532329 NCBI chr10:87,357,657...87,419,999
Ensembl chr10:87,357,657...87,419,998
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 chr 5:67,251,740...67,256,469
Ensembl chr 5:67,251,742...67,256,644
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 1H ISO ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM
ClinVar
PMID:25741868 PMID:28779001 NCBI chr 5:114,427,314...114,502,637
Ensembl chr 5:114,427,227...114,503,418
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 chr19:45,221,123...45,225,280
Ensembl chr19:45,221,123...45,224,251
JBrowse link
delayed sleep phase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aanat arylalkylamine N-acetyltransferase susceptibility ISO ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to ClinVar
OMIM
PMID:12736803 NCBI chr11:116,482,547...116,489,022
Ensembl chr11:116,477,258...116,488,506
JBrowse link
G Cry1 cryptochrome 1 (photolyase-like) susceptibility ISO ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to ClinVar
OMIM
PMID:28388406 PMID:32538895 NCBI chr10:84,967,564...85,020,918
Ensembl chr10:84,967,564...85,020,928
JBrowse link
fatal familial insomnia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir146 microRNA 146 susceptibility ISO miRNA:SNP: (rs57095329) (human) RGD PMID:29216791 RGD:126925194 NCBI chr11:43,265,224...43,265,288
Ensembl chr11:43,265,224...43,265,288
JBrowse link
G Nefl neurofilament, light polypeptide ISO protein:increased expression:CSF (human) RGD PMID:30048013 RGD:127285394 NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544
JBrowse link
G Prnp prion protein ISO
IAGP
ClinVar Annotator: match by term: Fatal familial insomnia
OMIM:600072
OMIM
ClinVar
MouseDO
PMID:1351274 PMID:1404799 PMID:1439789 PMID:1469441 PMID:1671440 More... NCBI chr 2:131,751,848...131,780,356
Ensembl chr 2:131,751,848...131,780,349
JBrowse link
Idiopathic Hypersomnolence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 ISO DNA:polymorphism (human) RGD PMID:19927159 RGD:5147660 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO DNA:polymorphism (human) RGD PMID:19927159 RGD:5147660 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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 2:174,602,412...174,625,835
Ensembl chr 2:174,602,412...174,625,835
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:56,257,503...56,269,402
Ensembl chr  X:56,257,503...56,269,402
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 chr15:89,310,552...89,314,130
Ensembl chr15:89,310,563...89,314,111
JBrowse link
G Cpt1b carnitine palmitoyltransferase 1b, muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:18820697 NCBI chr15:89,300,608...89,310,065
Ensembl chr15:89,300,608...89,310,066
JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphisms:cds:multiple RGD PMID:11179016 RGD:5147861 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphisms:cds:multiple
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20711174 PMID:11179016 RGD:5147861 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphisms:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:20711174 PMID:11179016 RGD:5147861 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G Hcrt hypocretin no_association IAGP
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 chr11:100,652,519...100,653,757
Ensembl chr11:100,651,895...100,653,757
JBrowse link
G Hcrtr2 hypocretin (orexin) receptor 2 ISO
IAGP
CTD Direct Evidence: marker/mechanism
OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250
CTD
MouseDO
PMID:17521418 NCBI chr 9:76,133,162...76,230,905
Ensembl chr 9:76,133,162...76,231,138
JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:37,321,632...37,334,290
Ensembl chr17:37,321,635...37,334,290
JBrowse link
G Penk preproenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 4:4,133,536...4,138,815
Ensembl chr 4:4,133,531...4,138,819
JBrowse link
G Socs2 suppressor of cytokine signaling 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr10:95,219,765...95,253,176
Ensembl chr10:95,221,224...95,253,042
JBrowse link
G Tac1 tachykinin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 6:7,555,061...7,562,978
Ensembl chr 6:7,554,879...7,565,834
JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:2845442 NCBI chr 6:92,219,042...92,221,631
Ensembl chr 6:92,219,042...92,221,631
JBrowse link
Narcolepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcrt hypocretin ISO ClinVar Annotator: match by term: Narcolepsy 1 OMIM
ClinVar
PMID:10973318 NCBI chr11:100,652,519...100,653,757
Ensembl chr11:100,651,895...100,653,757
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 chr17:37,321,632...37,334,290
Ensembl chr17:37,321,635...37,334,290
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, sub-family B (MDR/TAP), member 1A ISO mRNA:increased expression:heart left ventricle, liver RGD PMID:19323616 RGD:4890033 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
JBrowse link
G Abcb1b ATP-binding cassette, sub-family B (MDR/TAP), member 1B ISO mRNA:increased expression:heart left ventricle RGD PMID:19323616 RGD:4890033 NCBI chr 5:8,848,147...8,916,314
Ensembl chr 5:8,848,147...8,916,315
JBrowse link
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 severity
susceptibility
ISO 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 chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
JBrowse link
G Adora1 adenosine A1 receptor ISO RGD PMID:18787037 RGD:5129100 NCBI chr 1:134,126,953...134,163,195
Ensembl chr 1:134,126,961...134,163,169
JBrowse link
G Adrb1 adrenergic receptor, beta 1 susceptibility ISO associated with Hypertension;DNA:polymorphism: :p.R389G (human) RGD PMID:20948559 RGD:4145102 NCBI chr19:56,710,549...56,713,582
Ensembl chr19:56,710,631...56,721,545
JBrowse link
G Bdnf brain derived neurotrophic factor ISO RGD PMID:16061712 RGD:4891119 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
JBrowse link
G Bmp7 bone morphogenetic protein 7 IAGP OMIM:107650 MouseDO NCBI chr 2:172,709,805...172,782,114
Ensembl chr 2:172,709,805...172,782,114
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 ISO protein:increased expression:plasma RGD PMID:20855682 RGD:4891459 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Ccl5 chemokine (C-C motif) ligand 5 severity ISO mRNA:increased expression:faucial pillar, muscle (human) RGD PMID:20847078 RGD:4891917 NCBI chr11:83,416,604...83,421,344
Ensembl chr11:83,416,604...83,421,344
JBrowse link
G Crp C-reactive protein, pentraxin-related ISO RGD PMID:21493247 RGD:5131290 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
JBrowse link
G Cxcl5 chemokine (C-X-C motif) ligand 5 ISO protein:increased expression:serum RGD PMID:15988615 RGD:4892031 NCBI chr 5:90,907,157...90,909,484
Ensembl chr 5:90,907,219...90,909,483
JBrowse link
G Cyba cytochrome b-245, alpha polypeptide severity ISO mRNA, protein:increased expression:sputum, macrophage, neutrophil RGD PMID:20367952 RGD:4266589 NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chr  X:105,617,952...105,647,329
Ensembl chr  X:105,617,952...105,647,285
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chr14:73,263,515...73,286,554
Ensembl chr14:73,263,043...73,286,554
JBrowse link
G Edn1 endothelin 1 ISO 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 chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466
JBrowse link
G Ednra endothelin receptor type A ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :-231G>A (human)
CTD
RGD
PMID:20083432 PMID:19358946 PMID:20083432 RGD:4145067, RGD:4892306 NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093
JBrowse link
G Ghrh growth hormone releasing hormone treatment ISO
IDA
protein:decreased expression:plasma (human) RGD PMID:16750036 PMID:23815362 RGD:5687742, RGD:10401240 NCBI chr 2:157,171,416...157,190,645
Ensembl chr 2:157,171,417...157,189,426
JBrowse link
G Ghrl ghrelin ISO protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841
JBrowse link
G Ghsr growth hormone secretagogue receptor ISO protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr 3:27,425,500...27,433,384
Ensembl chr 3:27,425,500...27,432,159
JBrowse link
G Hcrt hypocretin ISO RGD PMID:15627867 RGD:1600936 NCBI chr11:100,652,519...100,653,757
Ensembl chr11:100,651,895...100,653,757
JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:17511582 RGD:4145404 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217
JBrowse link
G Hp haptoglobin ISO RGD PMID:19566894 RGD:5147384 NCBI chr 8:110,301,760...110,305,804
Ensembl chr 8:110,301,760...110,305,804
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased secretion:plasma (human) RGD PMID:20004360 RGD:4145463 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113
JBrowse link
G Il10 interleukin 10 ISO RGD PMID:22143914 RGD:11049492 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
JBrowse link
G Il1b interleukin 1 beta ISO protein:decreased expression:serum
protein:increased expression:plasma (rat)
RGD PMID:20040038 PMID:19342292 RGD:4142829, RGD:4142845 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum RGD PMID:20668869 RGD:4143251 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
JBrowse link
G Lep leptin ISO protein:increased expression:plasma RGD PMID:18606530 RGD:5128817 NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphism:exon:p.Q223R (human) RGD PMID:18204169 RGD:5128855 NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
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 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Muc1 mucin 1, transmembrane ISO protein:increased expression:plasma RGD PMID:19336590 RGD:5131166 NCBI chr 3:89,136,363...89,140,688
Ensembl chr 3:89,136,364...89,140,688
JBrowse link
G Ngf nerve growth factor ISO RGD PMID:17667845 RGD:5144120 NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
JBrowse link
G Nos2 nitric oxide synthase 2, inducible 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 chr11:78,811,613...78,851,052
Ensembl chr11:78,811,613...78,851,080
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell 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 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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 chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474
JBrowse link
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 1 ISO RGD PMID:17667845 RGD:5144120 NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469
JBrowse link
G Pla2g7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) ISO RGD PMID:21698055 RGD:6482785 NCBI chr17:43,878,885...43,923,093
Ensembl chr17:43,878,989...43,923,092
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:endothelial cell RGD PMID:18413499 RGD:4891909 NCBI chr 1:149,975,782...149,983,985
Ensembl chr 1:149,975,782...149,983,978
JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO protein:increased expression:monocyte RGD PMID:17013605 RGD:2298862 NCBI chr19:5,687,569...5,698,162
Ensembl chr19:5,687,511...5,698,158
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: SLEEP APNEA/HYPOPNEA SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO protein:increased expression:serum: RGD PMID:18330639 RGD:4144837 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
JBrowse link
G Sftpb surfactant associated protein B ISO protein:decreased expression:serum: RGD PMID:25953386 RGD:151667446 NCBI chr 6:72,281,594...72,291,356
Ensembl chr 6:72,281,594...72,291,354
JBrowse link
G Slc6a4 solute carrier family 6 (neurotransmitter transporter, serotonin), 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 chr11:76,889,423...76,923,169
Ensembl chr11:76,889,429...76,923,166
JBrowse link
G Syne2 spectrin repeat containing, nuclear envelope 2 ISO ClinVar Annotator: match by term: Obstructive sleep apnea syndrome ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr12:75,865,092...76,157,702
Ensembl chr12:75,864,908...76,157,700
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 chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Tnfrsf1a tumor necrosis factor receptor superfamily, member 1a ISO protein:increased expression:serum (human) RGD PMID:19148690 RGD:5131433 NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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 chr15:89,310,552...89,314,130
Ensembl chr15:89,310,563...89,314,111
JBrowse link
restless legs syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btbd9 BTB (POZ) domain containing 9 ISO
IAGP
CTD Direct Evidence: marker/mechanism
OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197
CTD
MouseDO
PMID:17637780 NCBI chr17:30,434,498...30,801,595
Ensembl chr17:30,434,498...30,795,462
JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO protein:decreased expression:brain RGD PMID:21570342 RGD:6483334 NCBI chr11:100,465,765...100,472,565
Ensembl chr11:100,465,730...100,482,555
JBrowse link
G Drd3 dopamine receptor D3 IAGP OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197 MouseDO NCBI chr16:43,574,285...43,646,353
Ensembl chr16:43,574,389...43,643,295
JBrowse link
G Meis1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17637780 PMID:28604731 NCBI chr11:18,830,428...18,968,992
Ensembl chr11:18,829,817...18,968,985
JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18464280 NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
JBrowse link
G Ptprd protein tyrosine phosphatase, receptor type, D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18660810 NCBI chr 4:75,859,474...78,132,282
Ensembl chr 4:75,859,475...78,130,198
JBrowse link
G Slc11a2 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 ISO mRNA, protein:increased expression:pons, thalamus RGD PMID:21710629 RGD:5688410 NCBI chr15:100,285,779...100,322,090
Ensembl chr15:100,285,779...100,322,953
JBrowse link
G Trf transferrin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16930377 PMID:23369046 RGD:7244177 NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643
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 chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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 4:132,738,576...132,805,421
Ensembl chr 4:132,738,571...132,805,421
JBrowse link
G Apoe apolipoprotein E ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18555211 NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
JBrowse link
G Il18 interleukin 18 severity ISO RGD PMID:19187612 RGD:4889903 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
JBrowse link
G Il6ra interleukin 6 receptor, alpha ISO RGD PMID:16983050 RGD:5128666 NCBI chr 3:89,776,631...89,820,503
Ensembl chr 3:89,771,366...89,820,503
JBrowse link
G Lepr leptin receptor ISO RGD PMID:11896492 RGD:5128873 NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549
JBrowse link
G S100b S100 protein, beta polypeptide, neural ISO protein:increased expression:cerebral cortex, hippocampus, astrocyte RGD PMID:20002528 RGD:5508790 NCBI chr10:76,089,670...76,097,153
Ensembl chr10:76,089,687...76,096,993
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO protein:increased expression:plasma RGD PMID:20508215 RGD:4144827 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
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 chr17:15,720,150...15,737,689
Ensembl chr17:15,720,150...15,748,641
JBrowse link
Sleep Deprivation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bace1 beta-site APP cleaving enzyme 1 ISO protein:increased expression:brain: RGD PMID:28455102 RGD:13782059 NCBI chr 9:45,749,843...45,774,791
Ensembl chr 9:45,749,878...45,775,697
JBrowse link
G Bdnf brain derived neurotrophic factor treatment ISO RGD PMID:25450575 RGD:10059355 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
JBrowse link
G Cst3 cystatin C ISO RGD PMID:17027151 RGD:2306498 NCBI chr 2:148,713,642...148,717,432
Ensembl chr 2:148,713,642...148,717,612
JBrowse link
G Ctsh cathepsin H ISO RGD PMID:17027151 RGD:2306498 NCBI chr 9:89,936,320...89,958,148
Ensembl chr 9:89,936,205...89,958,142
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex) ISO mRNA:decreased expression:cerebral cortex RGD PMID:16923172 RGD:2313667 NCBI chr 9:50,545,933...50,571,080
Ensembl chr 9:50,545,933...50,571,080
JBrowse link
G Drd1 dopamine receptor D1 ISO protein:increased expression:hypothalamus RGD PMID:25433096 RGD:13506946 NCBI chr13:54,205,202...54,209,677
Ensembl chr13:54,205,202...54,209,724
JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO protein:hyperphosphorylation:prefrontal cortex, dentate gyrus; RGD PMID:22917528 RGD:10401259 NCBI chr10:81,012,465...81,018,343
Ensembl chr10:81,012,465...81,018,332
JBrowse link
G Grin2b glutamate receptor, ionotropic, NMDA2B (epsilon 2) ISO protein:decreased expression:hippocampus (rat) RGD PMID:20237303 RGD:4107020 NCBI chr 6:135,690,219...136,150,658
Ensembl chr 6:135,690,231...136,150,509
JBrowse link
G Gsr glutathione reductase ISO protein:increased expression:hippocampus, cortex, amygdala: RGD PMID:21621560 RGD:11059509 NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191
JBrowse link
G Jph3 junctophilin 3 IEP mRNA:increased expression:brain RGD PMID:18077435 RGD:6480426 NCBI chr 8:122,457,298...122,517,822
Ensembl chr 8:122,456,362...122,521,015
JBrowse link
G Map2k4 mitogen-activated protein kinase kinase 4 ISO mRNA, protein:decreased expression:mandible condylar process RGD PMID:23859770 RGD:7495827 NCBI chr11:65,579,070...65,679,185
Ensembl chr11:65,579,069...65,679,123
JBrowse link
G Mir223 microRNA 223 ISO RGD PMID:30225174 RGD:25824951 NCBI chr  X:95,286,423...95,286,532
Ensembl chr  X:95,286,423...95,286,532
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase ISO RNA:increased expression:liver: RGD PMID:28860003 RGD:13781877 NCBI chr12:32,870,334...32,903,368
Ensembl chr12:32,869,544...32,903,348
JBrowse link
G Ngb neuroglobin ISO protein:decreased expression:brain RGD PMID:23262504 RGD:9743966 NCBI chr12:87,144,305...87,149,313
Ensembl chr12:87,144,305...87,149,313
JBrowse link
G Nrgn neurogranin ISO RGD PMID:7583240 RGD:9835425 NCBI chr 9:37,455,789...37,464,041
Ensembl chr 9:37,455,788...37,464,200
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16343605 NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP mRNA:increased expression:brain RGD PMID:18077435 RGD:6480426 NCBI chr 1:149,975,782...149,983,985
Ensembl chr 1:149,975,782...149,983,978
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 chr10:75,152,711...75,170,626
Ensembl chr10:75,152,711...75,170,618
JBrowse link
G Gabrb3 gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 ISO DNA:point mutation:exon:R192H
ClinVar Annotator: match by term: Insomnia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:11742254 PMID:12189488 PMID:25741868 PMID:28492532 PMID:12189488 RGD:1601268 NCBI chr 7:57,240,266...57,478,550
Ensembl chr 7:57,069,440...57,478,550
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 severity ISO DNA:polymorphism:cds:HLA-DQB1*0602 (human) RGD PMID:21292329 RGD:5147604 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20199424 NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620
JBrowse link
G Meis1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28604731 NCBI chr11:18,830,428...18,968,992
Ensembl chr11:18,829,817...18,968,985
JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha ISO DNA:SNP:cds:p.G482S (rs8192678) (human) RGD PMID:22392034 RGD:6484261 NCBI chr 5:51,611,591...52,273,337
Ensembl chr 5:51,611,592...51,725,068
JBrowse link
G Qars glutaminyl-tRNA synthetase ISO ClinVar Annotator: match by term: Insomnia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:108,385,204...108,393,140
Ensembl chr 9:108,384,905...108,393,140
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15283
    disease of anatomical entity 14937
      nervous system disease 12620
        Neurologic Manifestations 6096
          sleep disorder 147
            Dyssomnias 122
              Intrinsic Sleep Disorders + 97
              Sleep Deprivation 17
              advanced sleep phase syndrome + 9
Path 2
Term Annotations click to browse term
  disease 15283
    disease of anatomical entity 14937
      nervous system disease 12620
        central nervous system disease 10991
          brain disease 10312
            disease of mental health 7423
              sleep disorder 147
                Dyssomnias 122
                  Intrinsic Sleep Disorders + 97
                  Sleep Deprivation 17
                  advanced sleep phase syndrome + 9
paths to the root