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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


show annotations for term's descendants           Sort by:
 
sleep disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bhlhe41 basic helix-loop-helix family, member e41 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:180,230,742...180,235,138
Ensembl chr 4:180,232,382...180,234,804
JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Sleep disturbance ClinVar PMID:25741868 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16339034 NCBI chr 3:176,533,182...176,547,965
Ensembl chr 3:176,527,516...176,548,208
JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:12228730 NCBI chr 2:189,088,570...189,096,785
Ensembl chr 2:189,088,570...189,096,785
JBrowse link
G Clock clock circadian regulator ISS MouseDO NCBI chr14:34,418,226...34,502,218
Ensembl chr14:34,446,616...34,502,218
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Sleep disturbance ClinVar PMID:25741868 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Sleep disturbance ClinVar PMID:25741868 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
JBrowse link
G Ghrh growth hormone releasing hormone IEP mRNA:increased expression:brain, multiple (rat) RGD PMID:16859658 RGD:5687196 NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
JBrowse link
G Ghrhr growth hormone releasing hormone receptor IEP mRNA:decreased expression:hypothalamus (rat) RGD PMID:12161265 RGD:728477 NCBI chr 4:85,587,321...85,602,389
Ensembl chr 4:85,588,595...85,601,666
JBrowse link
G Htr7 5-hydroxytryptamine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21859099 NCBI chr 1:254,547,964...254,671,811
Ensembl chr 1:254,547,620...254,671,778
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17520785 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Sleep disturbance ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr  X:104,387,346...104,493,914
Ensembl chr  X:104,391,607...104,493,757
JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Sleep disturbance ClinVar NCBI chr 9:98,555,154...98,597,362
Ensembl chr 9:98,555,169...98,597,359
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18464280 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24403155 NCBI chr 1:32,323,011...32,363,983
Ensembl chr 1:32,321,580...32,363,983
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 susceptibility ISO DNA:missense mutation:cds:p.A129T(human)
CTD Direct Evidence: marker/mechanism
OMIM
CTD
PMID:12736803, PMID:12736803 RGD:1300232 NCBI chr10:105,568,091...105,572,407
Ensembl chr10:105,568,091...105,572,403
JBrowse link
G Bhlhe40 basic helix-loop-helix family, member e40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr 4:140,703,619...140,709,319
Ensembl chr 4:140,703,619...140,709,319
JBrowse link
G Cry1 cryptochrome circadian regulator 1 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 7:24,534,593...24,634,098
Ensembl chr 7:24,534,615...24,634,097
JBrowse link
G Nfil3 nuclear factor, interleukin 3 regulated ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr17:12,261,102...12,276,316
Ensembl chr17:12,261,102...12,276,315
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 chr 9:98,555,154...98,597,362
Ensembl chr 9:98,555,169...98,597,359
JBrowse link
G Per3 period circadian regulator 3 ISO DNA:missense mutations:cds:multiple (human) RGD PMID:11306557 RGD:1358557 NCBI chr 5:168,088,126...168,123,482
Ensembl chr 5:168,086,998...168,123,395
JBrowse link
G Rorc RAR-related orphan receptor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr 2:195,612,471...195,636,797
Ensembl chr 2:195,617,021...195,637,630
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 chr10:110,147,786...110,182,413
Ensembl chr10:110,148,600...110,182,408
JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Familial advanced sleep phase syndrome 1
ClinVar Annotator: match by OMIM:604348
OMIM
ClinVar
PMID:11232563 PMID:25741868 NCBI chr 9:98,555,154...98,597,362
Ensembl chr 9:98,555,169...98,597,359
JBrowse link
G Per3 period circadian regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:168,088,126...168,123,482
Ensembl chr 5:168,086,998...168,123,395
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 OMIM:615224 OMIM
ClinVar
PMID:15800623 PMID:23636092 NCBI chr10:110,147,786...110,182,413
Ensembl chr10:110,148,600...110,182,408
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, familial, 3 ClinVar
OMIM
PMID:25741868 PMID:26903630 NCBI chr 5:168,088,126...168,123,482
Ensembl chr 5:168,086,998...168,123,395
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: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
ClinVar Annotator: match by OMIM:604121
OMIM
ClinVar
PMID:8747854 PMID:22328086 PMID:25741868 PMID:28492532 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4
ClinVar Annotator: match by term: Seizures, benign familial infantile, 6
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:610353
OMIM
ClinVar
CTD
PMID:16826524 PMID:18414213 PMID:19383498 PMID:24950454 PMID:25741868 PMID:25770198 PMID:25847220 PMID:26467025 PMID:28166811 PMID:28492532 NCBI chr15:42,808,897...42,825,179
Ensembl chr15:42,808,897...42,825,179
JBrowse link
bruxism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Bruxism ClinVar PMID:15737703 PMID:25741868 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
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 6:125,817,420...125,853,461
Ensembl chr 6:125,819,640...125,853,461
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 PMID:12401890 PMID:12955717 PMID:14639697 PMID:15937921 PMID:16086131 PMID:16098014 PMID:17003072 PMID:20525256 PMID:20554533 PMID:23183285 PMID:23427322 PMID:23773996 PMID:23791518 PMID:25236789 PMID:25349751 PMID:25425405 PMID:25741868 PMID:26666848 PMID:26981555 PMID:28492532 NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO associated with Narcolepsy;DNA:polymorphism (human) RGD PMID:17297265 RGD:5147632 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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 8:21,911,632...21,915,664
Ensembl chr 8:21,911,625...21,915,716
JBrowse link
G LOC102552569 P2Y purinoceptor 11-like ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr 8:21,910,636...21,911,499 JBrowse link
G Ppan peter pan homolog ISO ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr 8:21,905,865...21,909,845
Ensembl chr 8:21,905,865...21,909,842
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: Central sleep apnea syndrome ClinVar PMID:15701560 PMID:25741868 PMID:28492532 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Nos3 nitric oxide synthase 3 ISO associated with heart failure; protein:decreased expression:serum RGD PMID:16806535 RGD:4892059 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Tac1 tachykinin, precursor 1 IMP RGD PMID:18420958 RGD:2304275 NCBI chr 4:33,638,853...33,646,819
Ensembl chr 4:33,638,709...33,646,819
JBrowse link
G Tacr1 tachykinin receptor 1 IMP RGD PMID:18420958 RGD:2304275 NCBI chr 4:113,247,236...113,416,139
Ensembl chr 4:113,247,795...113,414,504
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 Annotator: match by OMIM:209880
OMIM
ClinVar
PMID:14532329 NCBI chr 7:28,038,662...28,040,504
Ensembl chr 7:28,038,662...28,040,510
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:11840487 PMID:25741868, PMID:11840487 RGD:734643 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: Congenital central hypoventilation
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8696331 PMID:19556619 PMID:24033266 PMID:28492532 NCBI chr 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital Ondine curse
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8896568 PMID:8896569 PMID:9215674 PMID:9497256 PMID:11565554 PMID:11823451 PMID:12640453 PMID:19184120 PMID:22729463 PMID:24033266 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Haddad syndrome
ClinVar Annotator: match by term: Congenital central hypoventilation
DNA:duplication: :c.691_698dup (human)
DNA:repeats
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:12640453 PMID:14566559 PMID:14608649 PMID:14709596 PMID:15024693 PMID:15121777 PMID:15334515 PMID:15338462 PMID:16763219 PMID:16830328 PMID:16888290 PMID:17576681 PMID:17637745 PMID:17765533 PMID:18079495 PMID:18292934 PMID:19011468 PMID:20208042 PMID:20301600 PMID:24033266 PMID:24728327 PMID:25326635 PMID:25741868 PMID:26063465 PMID:26580448 PMID:28492532 PMID:29098737 PMID:29531718 PMID:29543228 PMID:30672101, PMID:24799442, PMID:19201717 RGD:11058834, RGD:12910557 NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Congenital central hypoventilation
ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, with hirschsprung disease
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3078962 PMID:7824936 PMID:7835899 PMID:7907913 PMID:7915165 PMID:8099202 PMID:8626834 PMID:8640806 PMID:8797874 PMID:8896569 PMID:9067749 PMID:9090527 PMID:9174404 PMID:9230192 PMID:9452077 PMID:9497256 PMID:9498388 PMID:9502784 PMID:9839497 PMID:9868860 PMID:9879991 PMID:10049754 PMID:10090908 PMID:10618407 PMID:10826520 PMID:10876191 PMID:10921886 PMID:11114642 PMID:11238493 PMID:11732489 PMID:12019403 PMID:12086152 PMID:12410354 PMID:12566528 PMID:12640453 PMID:14557476 PMID:14633923 PMID:15184865 PMID:15386323 PMID:15741265 PMID:15858153 PMID:16118333 PMID:16325365 PMID:16532227 PMID:16839264 PMID:16849421 PMID:17108762 PMID:17316110 PMID:17384210 PMID:17466010 PMID:17590169 PMID:17605401 PMID:17704047 PMID:17895320 PMID:18058472 PMID:18062802 PMID:18063059 PMID:19445625 PMID:19958926 PMID:20013610 PMID:20039896 PMID:20041006 PMID:20369307 PMID:20456320 PMID:20473317 PMID:20497437 PMID:20516206 PMID:20532249 PMID:20979234 PMID:21134561 PMID:21479187 PMID:21711375 PMID:21810974 PMID:21995290 PMID:22174939 PMID:22274720 PMID:22584709 PMID:22648184 PMID:22703879 PMID:22729463 PMID:22837065 PMID:23084198 PMID:23259706 PMID:23341727 PMID:23468374 PMID:24033266 PMID:24055113 PMID:24134185 PMID:24336963 PMID:24361808 PMID:24617864 PMID:24728327 PMID:25425582 PMID:25440022 PMID:25501606 PMID:25637381 PMID:25741868 PMID:25759805 PMID:25810047 PMID:26034076 PMID:26071011 PMID:26559152 PMID:26580448 PMID:26845104 PMID:27600092 PMID:28125075 PMID:28166811 PMID:28492532 PMID:28946813 PMID:29338689 PMID:29625052 PMID:29684080 PMID:30197081 PMID:30927507 PMID:31510104 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G Tlx3 T-cell leukemia, homeobox 3 ISS OMIM:209880 MouseDO NCBI chr10:18,128,869...18,131,745
Ensembl chr10:18,129,408...18,131,562
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 chr10:105,568,091...105,572,407
Ensembl chr10:105,568,091...105,572,403
JBrowse link
G Cry1 cryptochrome circadian regulator 1 ISO ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to ClinVar PMID:28388406 NCBI chr 7:24,534,593...24,634,098
Ensembl chr 7:24,534,615...24,634,097
JBrowse link
Dyssomnias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rai1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19752160 NCBI chr10:46,511,271...46,571,591
Ensembl chr10:46,511,271...46,571,583
JBrowse link
Familial Natural Short Sleep 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bhlhe41 basic helix-loop-helix family, member e41 ISO ClinVar Annotator: match by term: Short sleep, familial natural, 1 OMIM
ClinVar
PMID:19679812 PMID:25083013 NCBI chr 4:180,230,742...180,235,138
Ensembl chr 4:180,232,382...180,234,804
JBrowse link
G Sspn sarcospan ISO ClinVar Annotator: match by term: Short sleep, familial natural, 1 ClinVar PMID:19679812 PMID:25083013 NCBI chr 4:180,291,389...180,325,799
Ensembl chr 4:180,291,389...180,324,408
JBrowse link
Familial Natural Short Sleep 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb1 adrenoceptor beta 1 ISO ClinVar Annotator: match by term: SHORT SLEEP, FAMILIAL NATURAL, 2 ClinVar
OMIM
PMID:31473062 NCBI chr 1:277,537,585...277,538,985
Ensembl chr 1:277,537,585...277,538,985
JBrowse link
familial temporal lobe epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep55 centrosomal protein 55 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,745,251...256,760,794
Ensembl chr 1:256,745,288...256,760,796
JBrowse link
G Ffar4 free fatty acid receptor 4 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,786,124...256,804,156
Ensembl chr 1:256,786,124...256,804,156
JBrowse link
G Fra10ac1 FRA10A associated CGG repeat 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,881,688...256,913,617
Ensembl chr 1:256,881,771...256,914,260
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:25741868 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1
ClinVar Annotator: match by term: Epilepsy, lateral temporal lobe, autosomal dominant
ClinVar Annotator: match by OMIM:600512
OMIM
ClinVar
PMID:9536098 PMID:11810107 PMID:11978770 PMID:12205652 PMID:12601709 PMID:12771268 PMID:14510822 PMID:15079010 PMID:15079011 PMID:15349881 PMID:15660777 PMID:15857855 PMID:17296837 PMID:17562837 PMID:17576681 PMID:18625862 PMID:18711109 PMID:21504429 PMID:22496201 PMID:24206907 PMID:25485908 PMID:25741868 PMID:26467025 PMID:26773249 PMID:26993267 PMID:28492532 PMID:29133209 NCBI chr 1:256,955,944...256,996,835
Ensembl chr 1:256,955,652...256,999,253
JBrowse link
G Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1
CTD
ClinVar
PMID:25741868 NCBI chr20:46,199,981...46,211,930
Ensembl chr20:46,199,981...46,211,930
JBrowse link
G Myof myoferlin ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,585,410...256,734,727
Ensembl chr 1:256,585,410...256,734,730
JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,822,099...256,885,879
Ensembl chr 1:256,822,334...256,877,810
JBrowse link
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 ClinVar PMID:28492532 NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711
JBrowse link
G Reln reelin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1
ClinVar Annotator: match by term: Epilepsy, lateral temporal lobe, autosomal dominant
CTD
ClinVar
PMID:2564880 PMID:14515139 PMID:18414213 PMID:24467814 PMID:25648840 PMID:25741868 PMID:26046367 PMID:26467025 PMID:28419454 PMID:28492532 PMID:29056246 PMID:29358611 PMID:31134136 PMID:31875159 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
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 chr10:28,962,476...28,962,570
Ensembl chr10:28,962,476...28,962,570
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 PMID:1684755 PMID:1684758 PMID:1798423 PMID:1975028 PMID:2253724 PMID:2572450 PMID:7916462 PMID:7936296 PMID:7999318 PMID:8105682 PMID:8618678 PMID:9270595 PMID:9279329 PMID:9531435 PMID:9813003 PMID:10090891 PMID:10360778 PMID:10588836 PMID:10665501 PMID:10889050 PMID:11756597 PMID:11839833 PMID:14967768 PMID:15366237 PMID:16227536 PMID:16313190 PMID:17013786 PMID:17494694 PMID:20038778 PMID:20139714 PMID:20301407 PMID:20514992 PMID:20593190 PMID:21298055 PMID:22072968 PMID:22318125 PMID:22584955 PMID:23132868 PMID:23296137 PMID:23723004 PMID:25064618 PMID:25279981 PMID:25522698 PMID:25741868 PMID:26488179 PMID:26791950 PMID:27350609 PMID:27803826 PMID:28492532 PMID:29887139 NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:19927159 RGD:5147660 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450
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:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
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 PMID:18820697, PMID:18820697 RGD:6483443 NCBI chr 7:130,404,818...130,408,813
Ensembl chr 7:130,404,832...130,408,187
JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18820697 NCBI chr 7:130,395,211...130,404,731
Ensembl chr 7:130,395,194...130,405,347
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 chr10:88,669,216...88,670,430
Ensembl chr10:88,669,214...88,670,430
JBrowse link
G Hcrtr2 hypocretin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 8:83,307,684...83,421,612
Ensembl chr 8:83,307,684...83,421,612
JBrowse link
G LOC102552569 P2Y purinoceptor 11-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:21170044 NCBI chr 8:21,910,636...21,911,499 JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:2,003,871...2,014,284
Ensembl chr20:2,004,052...2,014,286
JBrowse link
G Penk proenkephalin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 5:17,056,412...17,061,762
Ensembl chr 5:17,056,419...17,061,837
JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:cds:multiple RGD PMID:11179016 RGD:5147861 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:multiple
CTD Direct Evidence: marker/mechanism
CTD PMID:20711174, PMID:11179016 RGD:5147861 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20711174, PMID:11179016 RGD:5147861 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Socs2 suppressor of cytokine signaling 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 7:36,495,496...36,500,878
Ensembl chr 7:36,495,480...36,499,784
JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 4:33,638,853...33,646,819
Ensembl chr 4:33,638,709...33,646,819
JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:2845442 NCBI chr 4:124,110,716...124,113,242
Ensembl chr 4:124,110,716...124,113,242
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 OMIM:161400 OMIM
ClinVar
PMID:10973318 NCBI chr10:88,669,216...88,670,430
Ensembl chr10:88,669,214...88,670,430
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
ClinVar Annotator: match by OMIM:614250
OMIM
ClinVar
PMID:21907016 PMID:25741868 NCBI chr20:2,003,871...2,014,284
Ensembl chr20:2,004,052...2,014,286
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES ClinVar
OMIM
PMID:32822602 NCBI chr 1:220,967,795...220,974,596
Ensembl chr 1:220,967,796...220,974,597
JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES ClinVar PMID:32822602 NCBI chr 1:220,966,626...220,967,717
Ensembl chr 1:220,966,655...220,967,825
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 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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 4:22,225,123...22,307,577
Ensembl chr 4:22,133,521...22,425,515
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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Adora1 adenosine A1 receptor IMP RGD PMID:18787037 RGD:5129100 NCBI chr13:51,042,111...51,076,913
Ensembl chr13:51,042,248...51,076,852
JBrowse link
G Adrb1 adrenoceptor beta 1 susceptibility ISO associated with Hypertension;DNA:polymorphism: :p.R389G (human) RGD PMID:20948559 RGD:4145102 NCBI chr 1:277,537,585...277,538,985
Ensembl chr 1:277,537,585...277,538,985
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO RGD PMID:16061712 RGD:4891119 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Bmp7 bone morphogenetic protein 7 ISS OMIM:107650 MouseDO NCBI chr 3:170,879,972...170,955,820
Ensembl chr 3:170,879,973...170,955,399
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:plasma RGD PMID:20855682 RGD:4891459 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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 chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Crp C-reactive protein ISO RGD PMID:21493247 RGD:5131290 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO protein:increased expression:serum RGD PMID:15988615 RGD:4892031 NCBI chr14:18,860,201...18,920,839
Ensembl chr14:18,860,264...18,862,407
JBrowse link
G Cyba cytochrome b-245 alpha chain severity ISO mRNA, protein:increased expression:sputum, macrophage, neutrophil RGD PMID:20367952 RGD:4266589 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chr  X:77,671,028...77,700,491
Ensembl chr  X:77,674,150...77,700,269
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chr15:54,903,290...54,941,742
Ensembl chr15:54,905,274...54,906,203
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 chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Ednra endothelin receptor type A IEP
ISO
CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :-231G>A (human)
CTD PMID:20083432, PMID:19358946, PMID:20083432 RGD:4145067, RGD:4892306 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
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 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide IEP protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr 4:145,674,157...145,678,066
Ensembl chr 4:145,674,157...145,678,066
JBrowse link
G Ghsr growth hormone secretagogue receptor IEP protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
JBrowse link
G Hcrt hypocretin neuropeptide precursor ISO RGD PMID:15627867 RGD:1600936 NCBI chr10:88,669,216...88,670,430
Ensembl chr10:88,669,214...88,670,430
JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:17511582 RGD:4145404 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hp haptoglobin ISO RGD PMID:19566894 RGD:5147384 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased secretion:plasma (human) RGD PMID:20004360 RGD:4145463 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Il10 interleukin 10 IEP RGD PMID:22143914 RGD:11049492 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum RGD PMID:20668869 RGD:4143251 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Lep leptin ISO protein:increased expression:plasma RGD PMID:18606530 RGD:5128817 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphism:exon:p.Q223R (human) RGD PMID:18204169 RGD:5128855 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
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 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:plasma RGD PMID:19336590 RGD:5131166 NCBI chr 2:188,543,137...188,547,874
Ensembl chr 2:188,543,137...188,547,874
JBrowse link
G Ngf nerve growth factor ISO RGD PMID:17667845 RGD:5144120 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
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 chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
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 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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 chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO RGD PMID:17667845 RGD:5144120 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO RGD PMID:21698055 RGD:6482785 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:endothelial cell RGD PMID:18413499 RGD:4891909 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:monocyte RGD PMID:17013605 RGD:2298862 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: SLEEP APNEA/HYPOPNEA SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:18330639 RGD:4144837 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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 chr10:63,153,656...63,188,377
Ensembl chr10:63,153,651...63,176,463
JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Obstructive sleep apnea syndrome ClinVar PMID:25741868 NCBI chr 6:98,884,269...99,153,551 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 chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:19148690 RGD:5131433 NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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 7:130,404,818...130,408,813
Ensembl chr 7:130,404,832...130,408,187
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 chr20:8,899,286...9,253,936
Ensembl chr20:8,901,931...9,249,820
JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO protein:decreased expression:brain RGD PMID:21570342 RGD:6483334 NCBI chr10:88,490,798...88,497,357
Ensembl chr10:88,490,798...88,497,356
JBrowse link
G Drd3 dopamine receptor D3 ISS OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197 MouseDO NCBI chr11:61,819,102...61,883,223
Ensembl chr11:61,822,077...61,874,327
JBrowse link
G Meis1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17637780 PMID:28604731 NCBI chr14:103,182,178...103,321,809
Ensembl chr14:103,181,281...103,321,270
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18464280 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Ptprd protein tyrosine phosphatase, receptor type, D ISO CTD Direct Evidence: marker/mechanism CTD PMID:18660810 NCBI chr 5:92,862,229...93,514,071
Ensembl chr 5:92,862,267...93,244,202
JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO mRNA, protein:increased expression:pons, thalamus RGD PMID:21710629 RGD:5688410 NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16930377, PMID:23369046 RGD:7244177 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
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 chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
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 5:151,209,894...151,277,192
Ensembl chr 5:151,211,342...151,277,165
JBrowse link
G Apoe apolipoprotein E ISO GAD PMID:15118671 RGD:1331525 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18555211 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Il18 interleukin 18 severity ISO RGD PMID:19187612 RGD:4889903 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il6r interleukin 6 receptor ISO RGD PMID:16983050 RGD:5128666 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
JBrowse link
G Lepr leptin receptor ISO RGD PMID:11896492 RGD:5128873 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G S100b S100 calcium binding protein B IEP protein:increased expression:cerebral cortex, hippocampus, astrocyte RGD PMID:20002528 RGD:5508790 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma RGD PMID:20508215 RGD:4144827 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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 1:57,491,381...57,509,335
Ensembl chr 1:57,491,643...57,508,449
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 IEP protein:increased expression:brain: RGD PMID:28455102 RGD:13782059 NCBI chr 8:50,140,092...50,162,388
Ensembl chr 8:50,139,997...50,162,361
JBrowse link
G Bdnf brain-derived neurotrophic factor treatment IEP RGD PMID:25450575 RGD:10059355 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Cst3 cystatin C IEP RGD PMID:17027151 RGD:2306498 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
G Ctsh cathepsin H IEP RGD PMID:17027151 RGD:2306498 NCBI chr 8:97,439,155...97,458,293
Ensembl chr 8:97,439,161...97,458,287
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase IEP mRNA:decreased expression:cerebral cortex RGD PMID:16923172 RGD:2313667 NCBI chr 8:55,062,549...55,087,832
Ensembl chr 8:55,062,551...55,087,832
JBrowse link
G Drd1 dopamine receptor D1 IEP protein:increased expression:hypothalamus RGD PMID:25433096 RGD:13506946 NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
JBrowse link
G Eef2 eukaryotic translation elongation factor 2 IEP protein:hyperphosphorylation:prefrontal cortex, dentate gyrus; RGD PMID:22917528 RGD:10401259 NCBI chr 7:11,401,501...11,406,771
Ensembl chr 7:11,401,501...11,406,771
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B IEP protein:decreased expression:hippocampus (rat) RGD PMID:20237303 RGD:4107020 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
JBrowse link
G Gsr glutathione-disulfide reductase IEP protein:increased expression:hippocampus, cortex, amygdala: RGD PMID:21621560 RGD:11059509 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Jph3 junctophilin 3 ISO mRNA:increased expression:brain RGD PMID:18077435 RGD:6480426 NCBI chr19:54,553,419...54,613,477
Ensembl chr19:54,553,419...54,613,477
JBrowse link
G Map2k4 mitogen activated protein kinase kinase 4 IEP mRNA, protein:decreased expression:mandible condylar process RGD PMID:23859770 RGD:7495827 NCBI chr10:52,196,121...52,301,887
Ensembl chr10:52,196,124...52,290,657
JBrowse link
G Mir223 microRNA 223 IEP RGD PMID:30225174 RGD:25824951 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Nampt nicotinamide phosphoribosyltransferase IEP RNA:increased expression:liver: RGD PMID:28860003 RGD:13781877 NCBI chr 6:52,122,085...52,156,473
Ensembl chr 6:52,122,085...52,156,472
JBrowse link
G Ngb neuroglobin IEP protein:decreased expression:brain RGD PMID:23262504 RGD:9743966 NCBI chr 6:111,126,259...111,131,699
Ensembl chr 6:111,126,261...111,132,320
JBrowse link
G Nrgn neurogranin IEP RGD PMID:7583240 RGD:9835425 NCBI chr 8:40,015,049...40,023,193
Ensembl chr 8:40,015,049...40,023,193
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16343605 NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:brain RGD PMID:18077435 RGD:6480426 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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 chr20:14,265,251...14,282,873
Ensembl chr20:14,265,252...14,282,873
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO DNA:point mutation:exon:R192H
ClinVar Annotator: match by term: Insomnia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11742254 PMID:12189488 PMID:28492532, PMID:12189488 RGD:1601268 NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:20199424 NCBI chr 3:12,608,748...12,686,937
Ensembl chr 3:12,609,574...12,686,869
JBrowse link
G Meis1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28604731 NCBI chr14:103,182,178...103,321,809
Ensembl chr14:103,181,281...103,321,270
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO DNA:SNP:cds:p.G482S (rs8192678) (human) RGD PMID:22392034 RGD:6484261 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Insomnia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:117,297,670...117,305,708
Ensembl chr 8:117,297,670...117,305,702
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        Neurologic Manifestations 5406
          sleep disorder 142
            Dyssomnias + 118
            NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES 2
            Parasomnias + 9
            Short Sleep + 3
            advanced sleep phase syndrome + 8
            bruxism + 1
            familial temporal lobe epilepsy 1 10
            periodic limb movement disorder 0
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            disease of mental health 7018
              sleep disorder 142
                Dyssomnias + 118
                NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES 2
                Parasomnias + 9
                Short Sleep + 3
                advanced sleep phase syndrome + 8
                bruxism + 1
                familial temporal lobe epilepsy 1 10
                periodic limb movement disorder 0
paths to the root