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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 Related Neurogenic Tachypnea;   Sleep Wake Disorder;   long sleeper syndrome;   non-organic sleep disorder;   sleep disorders;   sleep wake disorders;   subwakefullness syndrome
 related_synonym: SLEEP DISTURBANCE
 xref: EFO:0008568;   ICD9CM:307.4;   MESH:D012893;   MONDO:0100081
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 4:178,834,264...178,838,618
Ensembl chr 4:180,565,003...180,569,355 		JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Sleep disturbance ClinVar PMID:25741868 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,663,665...7,723,416 		JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:16339034 NCBI chr 3:188,506,802...188,535,558
Ensembl chr 3:188,501,209...188,535,105 		JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:12228730 NCBI chr 2:177,479,091...177,487,306
Ensembl chr 2:177,479,091...177,491,326 		JBrowse link
G Clock clock circadian regulator ISS MouseDO NCBI chr14:32,262,747...32,346,872
Ensembl chr14:32,262,750...32,346,872 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Sleep disturbance ClinVar PMID:25741868 NCBI chr15:22,884,006...22,917,412
Ensembl chr15:22,884,006...22,917,412 		JBrowse link
G Ghrh growth hormone releasing hormone IEP mRNA:increased expression:brain, multiple (rat) RGD PMID:16859658 RGD:5687196 NCBI chr 3:166,412,763...166,432,519
Ensembl chr 3:166,412,764...166,431,880 		JBrowse link
G Ghrhr growth hormone releasing hormone receptor IEP mRNA:decreased expression:hypothalamus (rat) RGD PMID:12161265 RGD:728477 NCBI chr 4:85,830,345...85,863,127
Ensembl chr 4:85,830,486...85,863,127 		JBrowse link
G Htr7 5-hydroxytryptamine receptor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21859099 NCBI chr 1:233,636,442...233,761,063
Ensembl chr 1:243,049,081...243,173,230 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17520785 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Npsr1 neuropeptide S receptor 1 ISS MouseDO NCBI chr 8:22,606,946...22,831,558
Ensembl chr 8:30,882,830...31,107,425 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18464280 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24403155 NCBI chr 1:31,537,990...31,578,962
Ensembl chr 1:31,537,990...31,578,962 		JBrowse link
advanced sleep phase syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aanat aralkylamine N-acetyltransferase ISO DNA:missense mutation:cds:p.A129T(human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:12736803 PMID:12736803 RGD:1300232 NCBI chr10:101,827,072...101,831,805
Ensembl chr10:102,326,135...102,330,635 		JBrowse link
G Bhlhe40 basic helix-loop-helix family, member e40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr 4:143,174,450...143,180,150
Ensembl chr 4:143,174,048...143,180,783 		JBrowse link
G Cry1 cryptochrome circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:18,529,823...18,594,092
Ensembl chr 7:20,417,107...20,481,822 		JBrowse link
G Nfil3 nuclear factor, interleukin 3 regulated ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr17:12,280,499...12,295,728
Ensembl chr17:12,432,198...12,450,826 		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 9:92,007,289...92,049,551
Ensembl chr 9:99,454,830...99,496,993 		JBrowse link
G Per3 period circadian regulator 3 ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Advanced sleep phase syndrome 		ClinVar
RGD		 PMID:25741868 PMID:11306557 RGD:1358557 NCBI chr 5:161,460,228...161,495,404
Ensembl chr 5:166,743,050...166,777,999 		JBrowse link
G Rorc RAR-related orphan receptor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr 2:184,698,779...184,723,942
Ensembl chr 2:184,698,818...184,724,566 		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 chr10:106,221,992...106,256,620
Ensembl chr10:106,694,279...106,754,953 		JBrowse link
G Per2 period circadian regulator 2 ISO
ISS 		ClinVar Annotator: match by term: Advanced sleep phase syndrome 1 | ClinVar Annotator: match by term: PER2-related condition
OMIM:604348
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:11232563 PMID:25741868 PMID:28492532 NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:99,454,830...99,496,993 		JBrowse link
G Per3 period circadian regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:161,460,228...161,495,404
Ensembl chr 5:166,743,050...166,777,999 		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 chr10:106,221,992...106,256,620
Ensembl chr10:106,694,279...106,754,953 		JBrowse link
advanced sleep phase syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Per3 period circadian regulator 3 ISO ClinVar Annotator: match by term: Advanced sleep phase syndrome 3 | ClinVar Annotator: match by term: Advanced sleep phase syndrome, familial, 3 | ClinVar Annotator: match by term: PER3-related condition OMIM
ClinVar		 PMID:25741868 PMID:26903630 PMID:28492532 NCBI chr 5:161,460,228...161,495,404
Ensembl chr 5:166,743,050...166,777,999 		JBrowse link
advanced sleep phase syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timeless timeless circadian regulator ISO OMIM NCBI chr 7:654,804...678,769
Ensembl chr 7:1,239,450...1,263,337 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 More... NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:27,716,797...27,763,119 		JBrowse link
autosomal dominant nocturnal frontal lobe epilepsy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 | ClinVar Annotator: match by term: EPILEPSY, FAMILIAL, WITH NOCTURNAL WANDERING AND ICTAL FEAR | ClinVar Annotator: match by term: Seizures, benign familial infantile, 6
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chr15:44,517,862...44,534,144
Ensembl chr15:44,517,862...44,534,144 		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 6:126,839,327...126,872,781 		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 chr18:3,654,237...3,699,800 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO associated with Narcolepsy;DNA:polymorphism (human) RGD PMID:17297265 RGD:5147632 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		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 8:27,705,915...27,709,987 		JBrowse link
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 8:27,700,152...27,704,128 		JBrowse link
central sleep apnea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Apnea, central sleep ClinVar PMID:12548525 PMID:15701560 PMID:25741868 PMID:28492532 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,663,665...7,723,416 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO associated with heart failure; protein:decreased expression:serum RGD PMID:16806535 RGD:4892059 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Tac1 tachykinin, precursor 1 IMP RGD PMID:18420958 RGD:2304275 NCBI chr 4:36,645,344...36,653,548
Ensembl chr 4:36,645,571...36,653,546 		JBrowse link
G Tacr1 tachykinin receptor 1 IMP RGD PMID:18420958 RGD:2304275 NCBI chr 4:116,478,617...116,647,492
Ensembl chr 4:116,478,617...116,647,492 		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 7:23,790,642...23,793,509
Ensembl chr 7:23,790,360...23,798,231 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar
RGD		 PMID:11840487 PMID:25741868 PMID:28492532 PMID:11840487 RGD:734643 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657 		JBrowse link
G Edn3 endothelin 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome 		CTD
ClinVar		 PMID:8696331 PMID:19556619 PMID:24033266 PMID:28492532 NCBI chr 3:183,980,458...184,004,958
Ensembl chr 3:183,980,668...184,005,329 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GDNF-related condition 		CTD
ClinVar		 PMID:8896568 PMID:8896569 PMID:9215674 PMID:9359036 PMID:9497256 More... NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:58,621,327...58,647,240 		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 7:23,792,781...23,885,627 		JBrowse link
G Phox2b paired-like homeobox 2b ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome | ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: ONDINE CURSE, CONGENITAL | ClinVar Annotator: match by term: Ondine-Hirschsprung disease | ClinVar Annotator: match by term: Primary alveolar hypoventilation
OMIM:209880
DNA:duplication: :c.691_698dup (human)
DNA:repeats 		CTD
ClinVar
MouseDO
RGD		 PMID:10613788 PMID:12640453 PMID:14566559 PMID:14608649 PMID:15121777 More... RGD:11058834, RGD:12910557 NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,420,011...41,424,494 		JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome | ClinVar Annotator: match by term: Congenital central hypoventilation 		CTD
ClinVar		 PMID:3078962 PMID:7824936 PMID:7835899 PMID:7907913 PMID:7915165 More... NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:152,998,812...153,040,556 		JBrowse link
G Tlx3 T-cell leukemia, homeobox 3 ISS OMIM:209880 MouseDO NCBI chr10:17,789,706...17,792,207
Ensembl chr10:18,293,932...18,296,773 		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 PMID:25741868 NCBI chr 7:23,790,642...23,793,509
Ensembl chr 7:23,790,360...23,798,231 		JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:14532329 PMID:25741868 NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:23,792,781...23,885,627 		JBrowse link
G Phox2b paired-like homeobox 2b susceptibility ISO ClinVar Annotator: match by term: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 1 | ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | ClinVar Annotator: match by term: Haddad syndrome ClinVar
OMIM		 PMID:9536098 PMID:10613788 PMID:12631670 PMID:12640453 PMID:14566559 More... NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,420,011...41,424,494 		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 chr12:47,908,959...47,984,623 		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 1:254,033,009...254,034,826 		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 chr10:101,827,072...101,831,805
Ensembl chr10:102,326,135...102,330,635 		JBrowse link
G Cry1 cryptochrome circadian regulator 1 susceptibility ISO ClinVar Annotator: match by term: CRY1-related condition | ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to OMIM
ClinVar		 PMID:25741868 PMID:28388406 PMID:28492532 PMID:32538895 NCBI chr 7:18,529,823...18,594,092
Ensembl chr 7:20,417,107...20,481,822 		JBrowse link
Dyssomnias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnmt histamine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:33310825 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:26,977,933...27,010,482 		JBrowse link
G Rai1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19752160 NCBI chr10:44,913,231...45,008,232
Ensembl chr10:45,447,427...45,507,747 		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: BHLHE41-related condition | ClinVar Annotator: match by term: Short sleep, familial natural, 1 OMIM
ClinVar		 PMID:19679812 PMID:25083013 NCBI chr 4:178,834,264...178,838,618
Ensembl chr 4:180,565,003...180,569,355 		JBrowse link
G Sspn sarcospan ISO ClinVar Annotator: match by term: BHLHE41-related condition | ClinVar Annotator: match by term: Short sleep, familial natural, 1 ClinVar PMID:19679812 PMID:25083013 NCBI chr 4:178,890,030...178,946,267
Ensembl chr 4:180,627,848...180,662,284 		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 1:255,771,962...255,774,973
Ensembl chr 1:265,766,079...265,849,237 		JBrowse link
familial temporal lobe epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep55 centrosomal protein 55 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:235,832,823...235,848,401
Ensembl chr 1:245,245,306...245,260,890 		JBrowse link
G Ffar4 free fatty acid receptor 4 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:245,286,009...245,304,029
Ensembl chr 1:245,285,883...245,304,031 		JBrowse link
G Fra10ac1 FRA10A associated CGG repeat 1 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:235,969,071...236,001,074
Ensembl chr 1:245,366,451...245,414,189 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:25741868 NCBI chr10:6,136,458...6,560,003
Ensembl chr10:6,138,037...6,551,378 		JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 ISO
ISS 		ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 | ClinVar Annotator: match by term: LGI1-related condition
OMIM:600512 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11810107 PMID:11978770 PMID:12205652 PMID:12601709 More... NCBI chr 1:236,043,269...236,084,617
Ensembl chr 1:245,455,599...245,499,095 		JBrowse link
G Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:44,974,137...44,986,089
Ensembl chr20:46,556,536...46,568,487 		JBrowse link
G Myof myoferlin ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:235,673,666...235,822,413
Ensembl chr 1:245,086,109...245,234,768 		JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:235,909,583...235,965,435
Ensembl chr 1:245,322,015...245,377,852 		JBrowse link
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:245,306,349...245,313,898 		JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:2564880 PMID:14515139 PMID:14593429 PMID:18414213 PMID:20697953 More... NCBI chr 4:13,628,440...14,055,201
Ensembl chr 4:13,628,399...14,055,162 		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 JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:30048013 RGD:127285394 NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515 		JBrowse link
G Prnp prion protein ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fatal familial insomnia
OMIM:600072 		CTD
ClinVar
OMIM
MouseDO		 PMID:1351274 PMID:1353341 PMID:1404799 PMID:1439789 PMID:1469441 More... NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:139,630,144...139,658,436 		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 chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO DNA:polymorphism (human) RGD PMID:19927159 RGD:5147660 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		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 3:183,980,458...184,004,958
Ensembl chr 3:183,980,668...184,005,329 		JBrowse link
Kleine-Levin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrch2 leucine rich repeats and calponin homology domain containing 2 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr  X:111,091,728...111,174,225
Ensembl chr  X:115,903,767...115,986,266 		JBrowse link
G Map4 microtubule-associated protein 4 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr 8:118,800,393...118,942,805
Ensembl chr 8:118,804,022...118,942,805 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr  X:156,807,378...156,812,632
Ensembl chr  X:156,807,378...156,812,574 		JBrowse link
G Plxnd1 plexin D1 ISO ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:149,002,786...149,043,097
Ensembl chr 4:150,675,377...150,715,566 		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:140,164,341...140,176,057
Ensembl chr  X:140,164,302...140,176,475 		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 7:122,380,594...122,383,949 		JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18820697 NCBI chr 7:122,370,974...122,380,473
Ensembl chr 7:122,370,444...122,380,036 		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 chr10:85,689,979...85,691,214
Ensembl chr10:86,189,775...86,191,524 		JBrowse link
G Hcrtr2 hypocretin receptor 2 ISO
ISS 		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 8:76,989,834...77,105,953
Ensembl chr 8:85,870,279...85,986,405 		JBrowse link
G Mog myelin oligodendrocyte glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:1,513,137...1,523,473 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 5:21,981,382...21,986,705 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms:cds:multiple RGD PMID:11179016 RGD:5147861 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653 		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 chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		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 chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		JBrowse link
G RT1-Hb-ps1 RT1 class II, locus Hb, pseudogene 1 susceptibility ISO DNA:polymorphisms, haplotypes: :multiple (human) RGD PMID:25574827 RGD:150429810 NCBI chr20:4,775,598...4,779,590
Ensembl chr20:4,776,547...4,781,574 		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 7:31,874,463...31,930,423 		JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 4:36,645,344...36,653,548
Ensembl chr 4:36,645,571...36,653,546 		JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:2845442 NCBI chr 4:126,299,236...126,301,762
Ensembl chr 4:126,299,236...126,301,762 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Narcolepsy 1 		OMIM
CTD
ClinVar		 PMID:10973318 NCBI chr10:85,689,979...85,691,214
Ensembl chr10:86,189,775...86,191,524 		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 JBrowse link
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities OMIM
ClinVar		 PMID:25741868 PMID:28035283 PMID:32822602 NCBI chr 1:212,325,089...212,332,640
Ensembl chr 1:212,325,090...212,332,587 		JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities ClinVar PMID:25741868 PMID:32822602 NCBI chr 1:202,894,626...202,895,675
Ensembl chr 1:212,323,939...212,329,571 		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 4:26,312,403...26,488,456
Ensembl chr 4:26,312,409...26,397,135 		JBrowse link
G Abcb1b ATP-binding cassette, sub-family B 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 4:26,106,903...26,279,567 		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 chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942 		JBrowse link
G Adora1 adenosine A1 receptor IMP RGD PMID:18787037 RGD:5129100 NCBI chr13:48,210,922...48,247,826
Ensembl chr13:48,213,273...48,247,190 		JBrowse link
G Adrb1 adrenoceptor beta 1 susceptibility ISO associated with Hypertension;DNA:polymorphism: :p.R389G (human) RGD PMID:20948559 RGD:4145102 NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:265,766,079...265,849,237 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO RGD PMID:16061712 RGD:4891119 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657 		JBrowse link
G Bmp7 bone morphogenetic protein 7 ISS OMIM:107650 MouseDO NCBI chr 3:182,059,318...182,135,273
Ensembl chr 3:182,052,337...182,135,137 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:plasma RGD PMID:20855682 RGD:4891459 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		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...68,327,380
Ensembl chr10:68,738,651...68,824,884 		JBrowse link
G Crp C-reactive protein ISO RGD PMID:21493247 RGD:5131290 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514 		JBrowse link
G Cxcl6 C-X-C motif chemokine ligand 6 ISO protein:increased expression:serum RGD PMID:15988615 RGD:4892031 NCBI chr14:17,594,959...17,596,417
Ensembl chr14:17,594,959...17,596,417 		JBrowse link
G Cyba cytochrome b-245 alpha chain severity ISO mRNA, protein:increased expression:sputum, macrophage, neutrophil RGD PMID:20367952 RGD:4266589 NCBI chr19:67,396,143...67,404,214
Ensembl chr19:67,396,143...67,404,214 		JBrowse link
G Cysltr1 cysteinyl leukotriene receptor 1 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chr  X:71,661,421...71,690,012
Ensembl chr  X:75,734,270...75,763,050 		JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chr15:48,189,476...48,228,750
Ensembl chr15:54,598,818...54,713,597 		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 chr17:22,660,799...22,666,687
Ensembl chr17:22,660,799...22,666,687 		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 chr19:47,137,360...47,207,961
Ensembl chr19:47,137,771...47,201,284 		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 3:166,412,763...166,432,519
Ensembl chr 3:166,412,764...166,431,880 		JBrowse link
G Ghrl ghrelin and obestatin prepropeptide IEP protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr 4:148,421,315...148,431,128
Ensembl chr 4:148,421,315...148,425,969 		JBrowse link
G Ghsr growth hormone secretagogue receptor IEP protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr 2:112,196,158...112,201,666
Ensembl chr 2:112,196,767...112,201,181 		JBrowse link
G Hcrt hypocretin neuropeptide precursor ISO RGD PMID:15627867 RGD:1600936 NCBI chr10:85,689,979...85,691,214
Ensembl chr10:86,189,775...86,191,524 		JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:17511582 RGD:4145404 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818 		JBrowse link
G Hp haptoglobin ISO RGD PMID:19566894 RGD:5147384 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:54,446,217...54,467,518 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO protein:increased secretion:plasma (human) RGD PMID:20004360 RGD:4145463 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:27,829,161...27,841,617 		JBrowse link
G Il10 interleukin 10 IEP RGD PMID:22143914 RGD:11049492 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		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 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum RGD PMID:20668869 RGD:4143251 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Lep leptin ISO protein:increased expression:plasma RGD PMID:18606530 RGD:5128817 NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:58,626,523...58,640,661 		JBrowse link
G Lepr leptin receptor susceptibility ISO DNA:polymorphism:exon:p.Q223R (human) RGD PMID:18204169 RGD:5128855 NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:121,474,099...121,591,215 		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 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:plasma RGD PMID:19336590 RGD:5131166 NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:176,933,047...176,938,491 		JBrowse link
G Ngf nerve growth factor ISO RGD PMID:17667845 RGD:5144120 NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:192,589,582...192,643,834 		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 chr10:64,313,335...64,349,221
Ensembl chr10:64,313,335...64,401,880 		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 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		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 chr18:31,522,783...31,644,508
Ensembl chr18:31,522,783...31,643,843 		JBrowse link
G Nrg1 neuregulin 1 susceptibility ISO DNA:SNP: :rs10097555(human) RGD PMID:25325441 RGD:405100236 NCBI chr16:65,954,084...67,007,484
Ensembl chr16:65,953,865...66,999,849 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO RGD PMID:17667845 RGD:5144120 NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:175,534,844...175,551,787 		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 9:24,859,502...24,901,747 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:endothelial cell RGD PMID:18413499 RGD:4891909 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:monocyte RGD PMID:17013605 RGD:2298862 NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:212,333,035...212,364,817 		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 chr12:25,237,952...25,248,357 		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 4:105,917,578...105,927,646 		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 chr10:62,322,688...62,357,060
Ensembl chr10:62,324,254...62,357,056 		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 chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO protein:increased expression:serum (human) RGD PMID:19148690 RGD:5131433 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816 		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 7:122,380,594...122,383,949 		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
ISS 		CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:17637780 NCBI chr20:8,286,337...8,645,567
Ensembl chr20:8,290,456...8,641,292 		JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO protein:decreased expression:brain RGD PMID:21570342 RGD:6483334 NCBI chr10:86,011,504...86,018,063
Ensembl chr10:86,011,495...86,018,063 		JBrowse link
G Drd3 dopamine receptor D3 ISS OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197 MouseDO NCBI chr11:70,385,586...70,437,793
Ensembl chr11:70,385,586...70,446,760 		JBrowse link
G Gabrr3 gamma-aminobutyric acid type A receptor subunit rho3 ISO ClinVar Annotator: match by term: Restless legs ClinVar NCBI chr11:40,902,812...40,955,263
Ensembl chr11:54,372,017...54,424,466 		JBrowse link
G Meis1 Meis homeobox 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:17637780 PMID:28604731 NCBI chr14:93,155,426...93,294,373
Ensembl chr14:97,322,748...97,495,083 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18464280 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173 		JBrowse link
G Ptprd protein tyrosine phosphatase, receptor type, D treatment ISO
IEP 		CTD Direct Evidence: marker/mechanism
protein:decreased expression:striatum (rat) 		CTD
RGD		 PMID:18660810 PMID:36053904 PMID:37633178 RGD:401976457, RGD:401976430 NCBI chr 5:95,093,221...97,415,498
Ensembl chr 5:95,095,858...96,178,903 		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 7:133,381,878...133,418,941 		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 8:112,647,642...112,695,400 		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 chr11:91,226,180...91,240,169 		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 5:145,228,228...145,294,170
Ensembl chr 5:150,512,037...150,583,144 		JBrowse link
G Apoe apolipoprotein E ISO GAD PMID:15118671 RGD:1331525 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18555211 NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:160,606,288...160,699,760 		JBrowse link
G Il18 interleukin 18 severity ISO RGD PMID:19187612 RGD:4889903 NCBI chr 8:59,802,072...59,829,275
Ensembl chr 8:59,809,592...59,831,286 		JBrowse link
G Il6r interleukin 6 receptor ISO RGD PMID:16983050 RGD:5128666 NCBI chr 2:177,582,020...177,646,705
Ensembl chr 2:177,582,164...177,645,221 		JBrowse link
G Lepr leptin receptor ISO RGD PMID:11896492 RGD:5128873 NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:121,474,099...121,591,215 		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 chr20:12,372,348...12,381,081 		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 chr12:25,237,952...25,248,357 		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 1:65,136,448...65,190,899 		JBrowse link
G Tph2 tryptophan hydroxylase 2 IMP RGD PMID:30763168 PMID:28775068 RGD:597830069, RGD:597830156 NCBI chr 7:50,685,694...50,789,424
Ensembl chr 7:52,571,911...52,675,639 		JBrowse link
Sleep Bruxism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htr2a 5-hydroxytryptamine receptor 2A susceptibility ISO DNA:SNP: :102T>C (rs6313) RGD PMID:22545912 RGD:401900300 NCBI chr15:56,360,647...56,428,703
Ensembl chr15:56,359,596...56,431,619 		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 8:46,142,060...46,166,268
Ensembl chr 8:55,038,823...55,064,918 		JBrowse link
G Bdnf brain-derived neurotrophic factor treatment IEP RGD PMID:25450575 RGD:10059355 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657 		JBrowse link
G Crh corticotropin releasing hormone IEP mRNA, protein:increased expression:paraventricular nucleus of thalamus RGD PMID:16210372 RGD:407580523 NCBI chr 2:104,059,184...104,061,048
Ensembl chr 2:104,058,770...104,061,386 		JBrowse link
G Cst3 cystatin C IEP RGD PMID:17027151 RGD:2306498 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:156,790,079...156,793,937 		JBrowse link
G Ctsh cathepsin H IEP RGD PMID:17027151 RGD:2306498 NCBI chr 8:99,488,756...99,507,639
Ensembl chr 8:99,488,874...99,509,181 		JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase IEP mRNA:decreased expression:cerebral cortex RGD PMID:16923172 RGD:2313667 NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:59,868,214...59,900,818
Ensembl chr 1:59,868,214...59,900,818 		JBrowse link
G Drd1 dopamine receptor D1 IEP protein:increased expression:hypothalamus RGD PMID:25433096 RGD:13506946 NCBI chr17:10,545,488...10,550,029
Ensembl chr17:10,545,111...10,567,166 		JBrowse link
G Eef2 eukaryotic translation elongation factor 2 IEP protein:hyperphosphorylation:prefrontal cortex, dentate gyrus; RGD PMID:22917528 RGD:10401259 NCBI chr 7:9,183,836...9,196,255
Ensembl chr 7:9,183,961...9,189,544 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B IEP protein:decreased expression:hippocampus (rat) RGD PMID:20237303 RGD:4107020 NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:170,322,617...170,773,570 		JBrowse link
G Gsr glutathione-disulfide reductase IEP protein:increased expression:hippocampus, cortex, amygdala: RGD PMID:21621560 RGD:11059509 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:65,185,574...65,228,394 		JBrowse link
G Jph3 junctophilin 3 ISO mRNA:increased expression:brain RGD PMID:18077435 RGD:6480426 NCBI chr19:66,702,497...66,763,948
Ensembl chr19:66,702,680...66,763,937 		JBrowse link
G Map2k4 mitogen activated protein kinase kinase 4 IEP mRNA, protein:decreased expression:mandible condylar process RGD PMID:23859770 RGD:7495827 NCBI chr10:50,842,348...50,947,063
Ensembl chr10:50,844,034...50,947,185 		JBrowse link
G Mir223 microRNA 223 IEP RGD PMID:30225174 RGD:25824951 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:65,151,383...65,151,492 		JBrowse link
G Nampt nicotinamide phosphoribosyltransferase IEP RNA:increased expression:liver: RGD PMID:28860003 RGD:13781877 NCBI chr 6:55,152,756...55,189,547
Ensembl chr 6:55,151,926...55,189,544 		JBrowse link
G Ngb neuroglobin IEP protein:decreased expression:brain RGD PMID:23262504 RGD:9743966 NCBI chr 6:106,744,378...106,749,830
Ensembl chr 6:112,475,332...112,480,786 		JBrowse link
G Npy neuropeptide Y IEP mRNA:increased expression:paraventricular nucleus of thalamus RGD PMID:16210372 RGD:407580523 NCBI chr 4:80,212,111...80,219,310
Ensembl chr 4:80,212,111...80,219,310 		JBrowse link
G Nrgn neurogranin IEP RGD PMID:7583240 RGD:9835425 NCBI chr 8:45,444,223...45,452,417
Ensembl chr 8:45,444,223...45,452,417 		JBrowse link
G Pomc proopiomelanocortin IEP mRNA:decreased expression:paraventricular nucleus of thalamus RGD PMID:16210372 RGD:407580523 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16343605 NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:39,981,415...40,002,990 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:brain RGD PMID:18077435 RGD:6480426 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320 		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 chr20:13,315,270...13,332,802 		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
RGD		 PMID:11742254 PMID:12189488 PMID:25741868 PMID:28492532 PMID:12189488 RGD:1601268 NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:117,431,842...117,836,725 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A treatment IMP RGD PMID:20684606 RGD:401938599 NCBI chr15:56,360,647...56,428,703
Ensembl chr15:56,359,596...56,431,619 		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 3:37,259,855...37,338,557 		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 chr14:97,322,748...97,495,083 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO DNA:SNP:cds:p.G482S (rs8192678) (human) RGD PMID:22392034 RGD:6484261 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:63,273,189...63,729,213 		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 chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sleep disorder 154
            Dyssomnias + 131
            NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES 2
            Parasomnias + 11
            Short Sleep + 3
            advanced sleep phase syndrome + 9
            bruxism + 1
            familial temporal lobe epilepsy 1 10
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8496
              sleep disorder 154
                Dyssomnias + 131
                NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES 2
                Parasomnias + 11
                Short Sleep + 3
                advanced sleep phase syndrome + 9
                bruxism + 1
                familial temporal lobe epilepsy 1 10
paths to the root