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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Dyssomnias
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Accession:DOID:9002111 term browser browse the term
Definition:A broad category of sleep disorders characterized by either hypersomnolence or insomnia. The three major subcategories include intrinsic (i.e., arising from within the body) (SLEEP DISORDERS, INTRINSIC), extrinsic (secondary to environmental conditions or various pathologic conditions), and disturbances of circadian rhythm. (From Thorpy, Sleep Disorders Medicine, 1994, p187)
Synonyms:exact_synonym: Adjustment Sleep Disorder;   Adjustment Sleep Disorders;   Dyssomnia;   Environmental Sleep Disorder;   Environmental Sleep Disorders;   Extrinsic Sleep Disorder;   Extrinsic Sleep Disorders;   Limit Setting Sleep Disorder;   Limit-Setting Sleep Disorders;   Nocturnal Eating Drinking Syndrome;   Nocturnal Eating-Drinking Syndromes
 primary_id: MESH:D020920


show annotations for term's descendants           Sort by:
Dyssomnias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAI1 retinoic acid induced 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19752160 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		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 IAGP
EXP		 DNA:missense mutation:cds:p.A129T(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12736803 PMID:12736803 RGD:1300232 NCBI chr17:76,453,351...76,470,117
Ensembl chr17:76,453,351...76,470,117 		JBrowse link
G BHLHE40 basic helix-loop-helix family member e40 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr 3:4,979,437...4,985,323
Ensembl chr 3:4,979,437...4,985,323 		JBrowse link
G CRY1 cryptochrome circadian regulator 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr12:106,991,364...107,093,549
Ensembl chr12:106,991,364...107,093,549 		JBrowse link
G NFIL3 nuclear factor, interleukin 3 regulated EXP CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr 9:91,409,045...91,483,497
Ensembl chr 9:91,408,748...91,424,626 		JBrowse link
G PER2 period circadian regulator 2 IAGP familial advanced sleep-phase syndrome, OMIM:604348, DNA:point mutation:exon:S662G RGD PMID:11232563 RGD:1600411 NCBI chr 2:238,244,044...238,300,065
Ensembl chr 2:238,244,044...238,290,102 		JBrowse link
G PER3 period circadian regulator 3 IAGP DNA:missense mutations:cds:multiple (human) RGD PMID:11306557 RGD:1358557 NCBI chr 1:7,784,291...7,845,177
Ensembl chr 1:7,784,291...7,845,177 		JBrowse link
G RORC RAR related orphan receptor C EXP CTD Direct Evidence: marker/mechanism CTD PMID:25395965 NCBI chr 1:151,806,071...151,831,802
Ensembl chr 1:151,806,071...151,831,845 		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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr17:82,239,019...82,273,750
Ensembl chr17:82,239,023...82,273,700 		JBrowse link
G PER2 period circadian regulator 2 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Advanced sleep phase syndrome 1
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		 ClinVar
MouseDO
CTD
OMIM		 PMID:11232563 PMID:25741868 PMID:28492532 NCBI chr 2:238,244,044...238,300,065
Ensembl chr 2:238,244,044...238,290,102 		JBrowse link
G PER3 period circadian regulator 3 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:7,784,291...7,845,177
Ensembl chr 1:7,784,291...7,845,177 		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 IAGP ClinVar Annotator: match by term: Advanced sleep phase syndrome 2 ClinVar
OMIM		 PMID:15800623 PMID:23636092 NCBI chr17:82,239,019...82,273,750
Ensembl chr17:82,239,023...82,273,700 		JBrowse link
advanced sleep phase syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126805604 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:7886590-7887789 IAGP ClinVar Annotator: match by term: PER3-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:7,826,530...7,827,729 JBrowse link
G PER3 period circadian regulator 3 IAGP ClinVar Annotator: match by term: PER3-related condition
ClinVar Annotator: match by term: Advanced sleep phase syndrome 3 | ClinVar Annotator: match by term: PER3-related condition		 OMIM
ClinVar		 PMID:25741868 PMID:26903630 PMID:28492532 NCBI chr 1:7,784,291...7,845,177
Ensembl chr 1:7,784,291...7,845,177 		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 IAGP OMIM NCBI chr12:56,416,363...56,449,426
Ensembl chr12:56,416,363...56,449,426 		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 IAGP
EXP		 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 chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G LOC126862853 CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:10246117-10247316 IAGP ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr19:10,135,441...10,136,640 JBrowse link
Cataplexy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATXN3 ataxin 3 IMP RGD PMID:15128861 RGD:1358427 NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP associated with Narcolepsy;DNA:polymorphism (human) RGD PMID:17297265 RGD:5147632 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 IAGP ClinVar Annotator: match by term: Cataplexy ClinVar PMID:10521290 PMID:11333381 PMID:11349231 PMID:11479732 PMID:11754101 More... NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506 		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 IAGP ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr19:10,115,014...10,119,899
Ensembl chr19:10,115,014...10,119,918 		JBrowse link
G P2RY11 purinergic receptor P2Y11 IAGP ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr19:10,111,693...10,115,372
Ensembl chr19:10,111,693...10,115,372 		JBrowse link
G PPAN peter pan homolog IAGP ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr19:10,106,223...10,112,012
Ensembl chr19:10,106,362...10,112,012 		JBrowse link
G PPAN-P2RY11 PPAN-P2RY11 readthrough IAGP ClinVar Annotator: match by term: Cataplexy and narcolepsy ClinVar PMID:25669430 NCBI chr19:10,106,362...10,115,372
Ensembl chr19:10,106,223...10,114,780 		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 IAGP ClinVar Annotator: match by term: Apnea, central sleep ClinVar PMID:12548525 PMID:15701560 PMID:25741868 PMID:28492532 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942 		JBrowse link
G NOS3 nitric oxide synthase 3 IEP associated with heart failure; protein:decreased expression:serum RGD PMID:16806535 RGD:4892059 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G TAC1 tachykinin precursor 1 ISO RGD PMID:18420958 RGD:2304275 NCBI chr 7:97,732,086...97,740,472
Ensembl chr 7:97,732,084...97,740,472 		JBrowse link
G TACR1 tachykinin receptor 1 ISO RGD PMID:18420958 RGD:2304275 NCBI chr 2:75,046,463...75,199,520
Ensembl chr 2:75,046,463...75,199,520 		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 IAGP ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr12:102,957,674...102,960,513
Ensembl chr12:102,957,674...102,960,513 		JBrowse link
G BDNF brain derived neurotrophic factor IAGP ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar
RGD		 PMID:11840487 PMID:25741868 PMID:28492532 PMID:11840487 RGD:734643 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G BDNF-AS BDNF antisense RNA IAGP ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:11840487 PMID:25741868 PMID:28492532 NCBI chr11:27,506,852...27,698,171
Ensembl chr11:27,506,808...27,698,231 		JBrowse link
G EDN3 endothelin 3 EXP
IAGP		 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 chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992 		JBrowse link
G GDNF glial cell derived neurotrophic factor EXP
IAGP		 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 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041 		JBrowse link
G LOC110011216 paired like homeobox 2b polyalanine repeat instability region IAGP ClinVar Annotator: match by term: Congenital central hypoventilation
ClinVar Annotator: match by term: ONDINE CURSE, CONGENITAL
ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: Ondine-Hirschsprung disease
ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome
ClinVar Annotator: match by term: Primary alveolar hypoventilation		 ClinVar PMID:10613788 PMID:12640453 PMID:14566559 PMID:14608649 PMID:15121777 More... NCBI chr 4:41,745,975...41,746,028 JBrowse link
G PAH phenylalanine hydroxylase IAGP ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410 		JBrowse link
G PHOX2B paired like homeobox 2B IAGP
ISS
EXP		 DNA:repeats
ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: Ondine-Hirschsprung disease
ClinVar Annotator: match by term: ONDINE CURSE, CONGENITAL
ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: Ondine-Hirschsprung disease | ClinVar Annotator: match by term: Primary alveolar hypoventilation
ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: ONDINE CURSE, CONGENITAL
ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome
OMIM:209880
CTD Direct Evidence: marker/mechanism
DNA:duplication: :c.691_698dup (human)		 ClinVar
MouseDO
CTD
RGD		 PMID:10613788 PMID:12640453 PMID:14566559 PMID:14608649 PMID:15121777 More... RGD:12910557, RGD:11058834 NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725 		JBrowse link
G PHOX2B-AS1 PHOX2B antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital central hypoventilation
ClinVar Annotator: match by term: Ondine-Hirschsprung disease
ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: Primary alveolar hypoventilation		 ClinVar PMID:16199547 PMID:24033266 PMID:25156769 PMID:25741868 PMID:28422456 More... NCBI chr 4:41,748,349...41,796,437
Ensembl chr 4:41,748,293...41,872,775 		JBrowse link
G RET ret proto-oncogene IAGP
EXP		 ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome
ClinVar Annotator: match by term: Congenital central hypoventilation
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:3078962 PMID:7824936 PMID:7835899 PMID:7907913 PMID:7915165 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G TLX3 T cell leukemia homeobox 3 ISS OMIM:209880 MouseDO NCBI chr 5:171,309,248...171,312,139
Ensembl chr 5:171,309,248...171,312,139 		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 IAGP ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:14532329 NCBI chr12:102,957,674...102,960,513
Ensembl chr12:102,957,674...102,960,513 		JBrowse link
G LOC110011216 paired like homeobox 2b polyalanine repeat instability region IAGP ClinVar Annotator: match by term: Haddad syndrome
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 PMID:10613788 PMID:12631670 PMID:12640453 PMID:14566559 PMID:14608649 More... NCBI chr 4:41,745,975...41,746,028 JBrowse link
G PAH phenylalanine hydroxylase IAGP ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:14532329 NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410 		JBrowse link
G PHOX2B paired like homeobox 2B IAGP ClinVar Annotator: match by term: Haddad syndrome
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
OMIM		 PMID:9536098 PMID:10613788 PMID:12631670 PMID:12640453 PMID:14566559 More... NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725 		JBrowse link
G PHOX2B-AS1 PHOX2B antisense RNA 1 IAGP ClinVar Annotator: match by term: Haddad syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18292934 PMID:19058226 More... NCBI chr 4:41,748,349...41,796,437
Ensembl chr 4:41,748,293...41,872,775 		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 IAGP ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction ClinVar
OMIM		 PMID:25741868 PMID:28779001 NCBI chr12:109,310,468...109,448,379
Ensembl chr12:109,347,900...109,455,523 		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 IAGP ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 3 OMIM
ClinVar		 PMID:30487221 NCBI chr10:101,226,994...101,229,463
Ensembl chr10:101,226,994...101,229,463 		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 IAGP ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to ClinVar PMID:12736803 NCBI chr17:76,453,351...76,470,117
Ensembl chr17:76,453,351...76,470,117 		JBrowse link
G CRY1 cryptochrome circadian regulator 1 susceptibility IAGP ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to
ClinVar Annotator: match by term: CRY1-related condition		 ClinVar
OMIM		 PMID:25741868 PMID:28388406 PMID:28492532 PMID:32538895 NCBI chr12:106,991,364...107,093,549
Ensembl chr12:106,991,364...107,093,549 		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 IAGP miRNA:SNP: (rs57095329) (human) RGD PMID:29216791 RGD:126925194 NCBI chr 5:160,485,352...160,485,450
Ensembl chr 5:160,485,352...160,485,450 		JBrowse link
G NEFL neurofilament light chain IEP protein:increased expression:CSF (human) RGD PMID:30048013 RGD:127285394 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G PRNP prion protein (Kanno blood group) IAGP
ISS
EXP		 ClinVar Annotator: match by term: Fatal familial insomnia
OMIM:600072
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
MouseDO
CTD		 PMID:1351274 PMID:1353341 PMID:1404799 PMID:1439789 PMID:1469441 More... NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		JBrowse link
Idiopathic Hypersomnolence term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP DNA:polymorphism (human) RGD PMID:19927159 RGD:5147660 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP DNA:polymorphism (human) RGD PMID:19927159 RGD:5147660 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		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 IAGP congenital central hypoventilation syndrome (CCHS), OMIM:209880;DNA:insertion:exon RGD PMID:8696331 RGD:1601002 NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992 		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 IAGP ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr  X:115,110,616...115,234,096
Ensembl chr  X:115,110,616...115,234,096 		JBrowse link
G MAP4 microtubule associated protein 4 IAGP ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr 3:47,850,695...48,088,848
Ensembl chr 3:47,850,690...48,089,272 		JBrowse link
G MTMR8 myotubularin related protein 8 IAGP ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr  X:64,268,081...64,395,452
Ensembl chr  X:64,268,081...64,395,452 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G PLXND1 plexin D1 IAGP ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676 		JBrowse link
G RBMXL3 RBMX like 3 IAGP ClinVar Annotator: match by term: Kleine-Levin syndrome ClinVar NCBI chr  X:115,189,410...115,192,868
Ensembl chr  X:115,189,410...115,192,868 		JBrowse link
narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD40LG CD40 ligand IEP protein:decreased expression:serum (human) RGD PMID:21669245 RGD:11352261 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CHKB choline kinase beta susceptibility IAGP
EXP		 DNA:SNP, haplotype:3' utr:c.*257A>G (rs5770917) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18820697 PMID:18820697 RGD:6483443 NCBI chr22:50,578,963...50,582,849
Ensembl chr22:50,578,959...50,601,455 		JBrowse link
G CPT1B carnitine palmitoyltransferase 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:18820697 NCBI chr22:50,568,861...50,578,612
Ensembl chr22:50,568,861...50,578,465 		JBrowse link
G HCRT hypocretin neuropeptide precursor no_association IAGP
ISS
IEP		 DNA:polymorphism:5' UTR:no association with either -909C-T polymorphism or -22T allele (aka 3250T allele)
OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250
DNA:polymorphism:5' UTR:3250C/T, all patients found heterozygous for the 3250T allele
mRNA:decreased expression:hypothalamus or protein:decreased expression:brain; in all samples examined
early-onset narcolepsy; DNA:transversion:CDS:amino acid L16R; mutation only found in a single case		 MouseDO
RGD		 PMID:11723284 PMID:11148249 PMID:10973318 PMID:10973318 RGD:1600923, RGD:1600922, RGD:1600919, RGD:1600919 NCBI chr17:42,184,060...42,185,452
Ensembl chr17:42,184,060...42,185,452 		JBrowse link
G HCRTR2 hypocretin receptor 2 EXP
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 6:55,106,469...55,284,713
Ensembl chr 6:55,106,460...55,282,617 		JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 susceptibility IAGP DNA:polymorphisms, haplotypes: :multiple (human) RGD PMID:25574827 RGD:150429810 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms:cds:multiple RGD PMID:11179016 RGD:5147861 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP
EXP		 DNA:polymorphisms:cds:multiple
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20711174 PMID:11179016 RGD:5147861 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP
EXP		 DNA:polymorphisms:cds:multiple (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20711174 PMID:11179016 RGD:5147861 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G MOG myelin oligodendrocyte glycoprotein EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:29,657,092...29,672,365
Ensembl chr 6:29,657,002...29,672,372 		JBrowse link
G P2RY11 purinergic receptor P2Y11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21170044 NCBI chr19:10,111,693...10,115,372
Ensembl chr19:10,111,693...10,115,372 		JBrowse link
G PENK proenkephalin EXP CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 8:56,440,957...56,446,641
Ensembl chr 8:56,436,674...56,446,671 		JBrowse link
G SOCS2 suppressor of cytokine signaling 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr12:93,569,969...93,626,236
Ensembl chr12:93,569,814...93,583,487 		JBrowse link
G TAC1 tachykinin precursor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17521418 NCBI chr 7:97,732,086...97,740,472
Ensembl chr 7:97,732,084...97,740,472 		JBrowse link
G TRA T cell receptor alpha locus EXP CTD Direct Evidence: marker/mechanism CTD PMID:19412176 NCBI chr14:21,621,904...22,552,132 JBrowse link
G TRH thyrotropin releasing hormone EXP CTD Direct Evidence: marker/mechanism CTD PMID:2845442 NCBI chr 3:129,974,720...129,977,935
Ensembl chr 3:129,974,688...129,977,935 		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 IAGP
EXP		 ClinVar Annotator: match by term: Narcolepsy 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:10973318 NCBI chr17:42,184,060...42,185,452
Ensembl chr17:42,184,060...42,185,452 		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 IAGP ClinVar Annotator: match by term: Narcolepsy 7 ClinVar
OMIM		 PMID:21907016 PMID:25741868 NCBI chr 6:29,657,092...29,672,365
Ensembl chr 6:29,657,002...29,672,372 		JBrowse link
obstructive sleep apnea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 ISO mRNA:increased expression:heart left ventricle, liver RGD PMID:19323616 RGD:4890033 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323 		JBrowse link
G ACE angiotensin I converting enzyme susceptibility
severity		 IAGP
ISO		 DNA:polymorphism (human)
mRNA:increased expression:cardiac atrium
associated with Hypertension;DNA:polymorphism (human)		 RGD PMID:20182789 PMID:24775918 PMID:19482546 RGD:4140915, RGD:11039043, RGD:4140917 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ADORA1 adenosine A1 receptor ISO RGD PMID:18787037 RGD:5129100 NCBI chr 1:203,127,726...203,167,405
Ensembl chr 1:203,090,654...203,167,405 		JBrowse link
G ADRB1 adrenoceptor beta 1 susceptibility IAGP associated with Hypertension;DNA:polymorphism: :p.R389G (human) RGD PMID:20948559 RGD:4145102 NCBI chr10:114,043,866...114,046,904
Ensembl chr10:114,043,866...114,046,904 		JBrowse link
G BDNF brain derived neurotrophic factor IDA RGD PMID:16061712 RGD:4891119 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G BMP7 bone morphogenetic protein 7 ISS OMIM:107650 MouseDO NCBI chr20:57,168,753...57,266,641
Ensembl chr20:57,168,753...57,266,641 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 IEP protein:increased expression:plasma RGD PMID:20855682 RGD:4891459 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 severity IEP mRNA:increased expression:faucial pillar, muscle (human) RGD PMID:20847078 RGD:4891917 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793 		JBrowse link
G CRP C-reactive protein IDA RGD PMID:21493247 RGD:5131290 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G CXCL6 C-X-C motif chemokine ligand 6 IEP protein:increased expression:serum RGD PMID:15988615 RGD:4892031 NCBI chr 4:73,836,678...73,838,760
Ensembl chr 4:73,836,640...73,849,064 		JBrowse link
G CYBA cytochrome b-245 alpha chain severity IEP mRNA, protein:increased expression:sputum, macrophage, neutrophil RGD PMID:20367952 RGD:4266589 NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083 		JBrowse link
G CYSLTR1 cysteinyl leukotriene receptor 1 IEP protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chr  X:78,271,468...78,327,611
Ensembl chr  X:78,271,468...78,327,691 		JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 IEP protein:increased expression:tonsil, T cell RGD PMID:18490405 RGD:4888517 NCBI chr13:48,653,929...48,711,226
Ensembl chr13:48,653,711...48,711,226 		JBrowse link
G EDN1 endothelin 1 ISO
IAGP
IEP		 protein:increased expression:myocardium (rat)
DNA:polymorphism:exon:p.K198N (human)
protein:increased secretion:plasma (human)		 RGD PMID:19358946 PMID:18580062 PMID:17198911 RGD:4145067, RGD:4145075, RGD:4144901 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G EDNRA endothelin receptor type A ISO
EXP
IAGP		 CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :-231G>A (human)		 CTD
RGD		 PMID:20083432 PMID:19358946 PMID:20083432 RGD:4145067, RGD:4892306 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954 		JBrowse link
G GHRH growth hormone releasing hormone treatment IEP
ISO		 protein:decreased expression:plasma (human) RGD PMID:16750036 PMID:23815362 RGD:5687742, RGD:10401240 NCBI chr20:37,251,086...37,261,814
Ensembl chr20:37,251,086...37,261,819 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947 		JBrowse link
G GHSR growth hormone secretagogue receptor ISO protein:decreased expression:growth plate: RGD PMID:26943473 RGD:11573409 NCBI chr 3:172,443,291...172,448,456
Ensembl chr 3:172,443,291...172,448,456 		JBrowse link
G HCRT hypocretin neuropeptide precursor IEP protein:decreased expression:plasma:independent of level of somnolence or obesity RGD PMID:15627867 RGD:1600936 NCBI chr17:42,184,060...42,185,452
Ensembl chr17:42,184,060...42,185,452 		JBrowse link
G HMOX1 heme oxygenase 1 IEP RGD PMID:17511582 RGD:4145404 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G HP haptoglobin IEP RGD PMID:19566894 RGD:5147384 NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 IEP protein:increased secretion:plasma (human) RGD PMID:20004360 RGD:4145463 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IL10 interleukin 10 ISO RGD PMID:22143914 RGD:11049492 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL1B interleukin 1 beta IEP
ISO		 protein:decreased expression:serum
protein:increased expression:plasma (rat)		 RGD PMID:20040038 PMID:19342292 RGD:4142829, RGD:4142845 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816 		JBrowse link
G IL6 interleukin 6 IEP protein:increased expression:serum RGD PMID:20668869 RGD:4143251 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G LEP leptin IEP protein:increased expression:plasma RGD PMID:18606530 RGD:5128817 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G LEPR leptin receptor susceptibility IAGP DNA:polymorphism:exon:p.Q223R (human) RGD PMID:18204169 RGD:5128855 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G MMP9 matrix metallopeptidase 9 disease_progression IEP
IDA		 protein:increased expression:palatopharyngeal muscle RGD PMID:20836084 PMID:19652426 RGD:5129212, RGD:5130877 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G MUC1 mucin 1, cell surface associated IEP protein:increased expression:plasma RGD PMID:19336590 RGD:5131166 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916 		JBrowse link
G NGF nerve growth factor IEP RGD PMID:17667845 RGD:5144120 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770 		JBrowse link
G NOS2 nitric oxide synthase 2 severity IEP associated with obesity; protein:increased expression:sputum
protein:decreased expression, decreased phosphorylation:endothelial cell		 RGD PMID:18098375 PMID:18413499 RGD:4891935, RGD:4891909 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529 		JBrowse link
G NOS3 nitric oxide synthase 3 severity IEP
IAGP		 protein:increased expression:endothelial cell
associated with heart failure; protein:decreased expression:serum
DNA:polymorphism:exon: p. E298D (human)
protein:decreased expression, decreased phosphorylation:endothelial cells		 RGD PMID:18413499 PMID:16806535 PMID:18651156 PMID:20159829 RGD:4891909, RGD:4892059, RGD:4892052, RGD:4892051 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 IEP mRNA, protein:increased expression:lymphoid tissue: RGD PMID:15611350 RGD:4892608 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G NRG1 neuregulin 1 susceptibility IAGP DNA:SNP: :rs10097555(human) RGD PMID:25325441 RGD:405100236 NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666 		JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IEP RGD PMID:17667845 RGD:5144120 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850 		JBrowse link
G PLA2G7 phospholipase A2 group VII IEP RGD PMID:21698055 RGD:6482785 NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 IEP protein:increased expression:endothelial cell RGD PMID:18413499 RGD:4891909 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit IEP protein:increased expression:monocyte RGD PMID:17013605 RGD:2298862 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: SLEEP APNEA/HYPOPNEA SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SERPINE1 serpin family E member 1 IEP protein:increased expression:serum: RGD PMID:18330639 RGD:4144837 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SFTPB surfactant protein B IEP protein:decreased expression:serum: RGD PMID:25953386 RGD:151667446 NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741 		JBrowse link
G SLC6A4 solute carrier family 6 member 4 no_association IAGP DNA:polymorphism, repeat:promoter, intron (human)
DNA:polymorphism:promoter (human)		 RGD PMID:15867649 PMID:19014073 PMID:16215942 RGD:4889466, RGD:4889462, RGD:4889463 NCBI chr17:30,194,319...30,235,697
Ensembl chr17:30,194,319...30,236,002 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP ClinVar Annotator: match by term: Obstructive sleep apnea syndrome ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G TNF tumor necrosis factor susceptibility IAGP
IEP		 DNA:polymorphism:promoter: c.-308G>A (human)
protein:increased expression:plasma		 RGD PMID:19022640 PMID:20846669 PMID:14633242 RGD:4143442, RGD:4143435, RGD:4142857 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IEP protein:increased expression:serum (human) RGD PMID:19148690 RGD:5131433 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		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 IAGP DNA:SNP: :rs5770917 (human) RGD PMID:19404393 RGD:6483442 NCBI chr22:50,578,963...50,582,849
Ensembl chr22:50,578,959...50,601,455 		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 EXP
ISS		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:17637780 NCBI chr 6:38,168,451...38,639,929
Ensembl chr 6:38,168,451...38,640,148 		JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase IEP protein:decreased expression:brain RGD PMID:21570342 RGD:6483334 NCBI chr17:41,966,795...41,977,740
Ensembl chr17:41,966,763...41,977,740 		JBrowse link
G DRD3 dopamine receptor D3 ISS OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197 MouseDO NCBI chr 3:114,127,580...114,199,407
Ensembl chr 3:114,127,580...114,199,407 		JBrowse link
G GABRR3 gamma-aminobutyric acid type A receptor subunit rho3 IAGP ClinVar Annotator: match by term: Restless legs ClinVar NCBI chr 3:97,985,102...98,035,315
Ensembl chr 3:97,985,102...98,035,315 		JBrowse link
G MEIS1 Meis homeobox 1 EXP
ISS		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:17637780 PMID:28604731 NCBI chr 2:66,435,125...66,573,869
Ensembl chr 2:66,433,452...66,573,869 		JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:18464280 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G PTPRD protein tyrosine phosphatase receptor type D treatment EXP
ISO		 CTD Direct Evidence: marker/mechanism
protein:decreased expression:striatum (rat)		 CTD
RGD		 PMID:18660810 PMID:36053904 PMID:37633178 RGD:401976457, RGD:401976430 NCBI chr 9:8,314,246...10,613,002
Ensembl chr 9:8,314,246...10,613,002 		JBrowse link
G SLC11A2 solute carrier family 11 member 2 IEP mRNA, protein:increased expression:pons, thalamus RGD PMID:21710629 RGD:5688410 NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566 		JBrowse link
G TF transferrin IDA
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16930377 PMID:23369046 RGD:7244177 NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641 		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 IEP RGD PMID:19913847 RGD:5686853 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G AHDC1 AT-hook DNA binding motif containing 1 IAGP ClinVar Annotator: match by term: Sleep apnea syndrome ClinVar PMID:23806086 PMID:24088041 PMID:24791903 PMID:25741868 NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431 		JBrowse link
G APOE apolipoprotein E IEA GAD PMID:15118671 RGD:1331525 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G BCHE butyrylcholinesterase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18555211 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462 		JBrowse link
G IL18 interleukin 18 severity IDA RGD PMID:19187612 RGD:4889903 NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,251...112,164,096 		JBrowse link
G IL6R interleukin 6 receptor IEP RGD PMID:16983050 RGD:5128666 NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450 		JBrowse link
G LEPR leptin receptor IEP RGD PMID:11896492 RGD:5128873 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G S100B S100 calcium binding protein B ISO protein:increased expression:cerebral cortex, hippocampus, astrocyte RGD PMID:20002528 RGD:5508790 NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208 		JBrowse link
G SERPINE1 serpin family E member 1 IEP protein:increased expression:plasma RGD PMID:20508215 RGD:4144827 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G TBP TATA-box binding protein IEP associated with Sudden Infant Death; protein:altered expression:brainstem (human) RGD PMID:14693397 RGD:5684350 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870 		JBrowse link
G TPH2 tryptophan hydroxylase 2 ISO RGD PMID:30763168 PMID:28775068 RGD:597830069, RGD:597830156 NCBI chr12:71,938,845...72,032,440
Ensembl chr12:71,938,845...72,186,618 		JBrowse link
Sleep Deprivation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BACE1 beta-secretase 1 ISO protein:increased expression:brain: RGD PMID:28455102 RGD:13782059 NCBI chr11:117,285,698...117,316,256
Ensembl chr11:117,285,232...117,316,259 		JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO RGD PMID:25450575 RGD:10059355 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G CRH corticotropin releasing hormone ISO mRNA, protein:increased expression:paraventricular nucleus of thalamus RGD PMID:16210372 RGD:407580523 NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464 		JBrowse link
G CST3 cystatin C ISO RGD PMID:17027151 RGD:2306498 NCBI chr20:23,626,706...23,637,955
Ensembl chr20:23,626,706...23,638,473 		JBrowse link
G CTSH cathepsin H ISO RGD PMID:17027151 RGD:2306498 NCBI chr15:78,921,058...78,945,046
Ensembl chr15:78,921,058...78,949,574 		JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO mRNA:decreased expression:cerebral cortex RGD PMID:16923172 RGD:2313667 NCBI chr11:112,025,408...112,064,404
Ensembl chr11:112,025,033...112,064,404 		JBrowse link
G DRD1 dopamine receptor D1 ISO protein:increased expression:hypothalamus RGD PMID:25433096 RGD:13506946 NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182 		JBrowse link
G EEF2 eukaryotic translation elongation factor 2 ISO protein:hyperphosphorylation:prefrontal cortex, dentate gyrus; RGD PMID:22917528 RGD:10401259 NCBI chr19:3,976,056...3,985,463
Ensembl chr19:3,976,056...3,985,463 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO protein:decreased expression:hippocampus (rat) RGD PMID:20237303 RGD:4107020 NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002 		JBrowse link
G GSR glutathione-disulfide reductase ISO protein:increased expression:hippocampus, cortex, amygdala: RGD PMID:21621560 RGD:11059509 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846 		JBrowse link
G JPH3 junctophilin 3 ISO mRNA:increased expression:brain RGD PMID:18077435 RGD:6480426 NCBI chr16:87,601,835...87,698,156
Ensembl chr16:87,601,835...87,698,156 		JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 ISO mRNA, protein:decreased expression:mandible condylar process RGD PMID:23859770 RGD:7495827 NCBI chr17:12,020,877...12,143,828
Ensembl chr17:12,020,829...12,143,830 		JBrowse link
G MIR223 microRNA 223 ISO RGD PMID:30225174 RGD:25824951 NCBI chr  X:66,018,870...66,018,979
Ensembl chr  X:66,018,870...66,018,979 		JBrowse link
G NAMPT nicotinamide phosphoribosyltransferase ISO RNA:increased expression:liver: RGD PMID:28860003 RGD:13781877 NCBI chr 7:106,248,298...106,285,888
Ensembl chr 7:106,248,298...106,285,966 		JBrowse link
G NGB neuroglobin ISO protein:decreased expression:brain RGD PMID:23262504 RGD:9743966 NCBI chr14:77,265,483...77,271,206
Ensembl chr14:77,265,483...77,271,206 		JBrowse link
G NPY neuropeptide Y ISO mRNA:increased expression:paraventricular nucleus of thalamus RGD PMID:16210372 RGD:407580523 NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862 		JBrowse link
G NRGN neurogranin ISO RGD PMID:7583240 RGD:9835425 NCBI chr11:124,739,942...124,747,210
Ensembl chr11:124,739,942...124,747,210 		JBrowse link
G POMC proopiomelanocortin ISO mRNA:decreased expression:paraventricular nucleus of thalamus RGD PMID:16210372 RGD:407580523 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16343605 NCBI chr 9:122,370,533...122,395,703
Ensembl chr 9:122,370,530...122,395,703 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:brain RGD PMID:18077435 RGD:6480426 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20532872 NCBI chr22:24,423,597...24,442,357
Ensembl chr22:24,417,879...24,442,357 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 IAGP
EXP		 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 chr15:26,543,552...26,773,763
Ensembl chr15:26,543,552...26,939,539 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 severity IAGP DNA:polymorphism:cds:HLA-DQB1*0602 (human) RGD PMID:21292329 RGD:5147604 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A treatment ISO RGD PMID:20684606 RGD:401938599 NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:20199424 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MEIS1 Meis homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28604731 NCBI chr 2:66,435,125...66,573,869
Ensembl chr 2:66,433,452...66,573,869 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha IAGP DNA:SNP:cds:p.G482S (rs8192678) (human) RGD PMID:22392034 RGD:6484261 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 147117
    disease of anatomical entity 134156
      nervous system disease 71651
        Neurologic Manifestations 37918
          sleep disorder 4695
            Dyssomnias 4646
              Intrinsic Sleep Disorders + 4618
              Sleep Deprivation 20
              advanced sleep phase syndrome + 10
Path 2
Term Annotations click to browse term
  disease 147117
    disease of anatomical entity 134156
      nervous system disease 71651
        central nervous system disease 51558
          brain disease 48865
            disease of mental health 39699
              sleep disorder 4695
                Dyssomnias 4646
                  Intrinsic Sleep Disorders + 4618
                  Sleep Deprivation 20
                  advanced sleep phase syndrome + 10
paths to the root