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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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



show annotations for term's descendants           Sort by:
 
Dyssomnias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAI1 retinoic acid induced 1 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 9:91,409,045...91,423,832
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 ClinVar Annotator: match by term: Familial advanced sleep phase syndrome 1 ClinVar
OMIM
PMID:11232563 PMID:25741868 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, familial, 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 PER3 period circadian regulator 3 IAGP ClinVar Annotator: match by term: Advanced sleep phase syndrome, familial, 3 ClinVar
OMIM
PMID:25741868 PMID:26903630 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, Familial 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 ClinVar Annotator: match by term: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy
ClinVar
OMIM
PMID:8747854 PMID:22328086 PMID:25741868 PMID:28492532 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286
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 chr14:92,058,552...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: Central sleep apnea syndrome
ClinVar Annotator: match by term: Apnea, central sleep
ClinVar 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:25741868 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:25741868 NCBI chr11:27,506,852...27,698,171
Ensembl chr11:27,506,830...27,698,231
JBrowse link
G EDN3 endothelin 3 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital central hypoventilation
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 CTD Direct Evidence: marker/mechanism CTD PMID:9497256 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: Haddad syndrome
ClinVar PMID:12640453 PMID:14566559 PMID:14608649 PMID:14709596 PMID:15334515 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
EXP
DNA:repeats
ClinVar Annotator: match by term: Congenital central hypoventilation
ClinVar Annotator: match by term: Haddad syndrome
CTD Direct Evidence: marker/mechanism
DNA:duplication: :c.691_698dup (human)
ClinVar
CTD
RGD
PMID:10613788 PMID:12640453 PMID:14566559 PMID:14608649 PMID:14709596 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: Haddad syndrome
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28873162 PMID:29543228 NCBI chr 4:41,748,349...41,855,261
Ensembl chr 4:41,748,293...41,824,119
JBrowse link
G RET ret proto-oncogene IAGP
EXP
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 PMID:12640453 PMID:14709596 PMID:16830328 PMID:18079495 PMID:20208042 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
OMIM
PMID:9536098 PMID:10613788 PMID:12640453 PMID:14709596 PMID:15024693 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:24033266 PMID:24728327 More... NCBI chr 4:41,748,349...41,855,261
Ensembl chr 4:41,748,293...41,824,119
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 susceptibility IAGP ClinVar Annotator: match by term: Delayed sleep phase syndrome, susceptibility to ClinVar
OMIM
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
OMIM
PMID:28388406 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 IAGP ClinVar Annotator: match by term: Fatal familial insomnia OMIM
ClinVar
PMID:1351274 PMID:1404799 PMID:1439789 PMID:1469441 PMID:1671440 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
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 CTD Direct Evidence: marker/mechanism CTD 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 6:33,075,990...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 ClinVar Annotator: match by term: Narcolepsy 1 ClinVar
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 6:12,256,484...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 NTRK1 neurotrophic receptor tyrosine kinase 1 IEP RGD PMID:17667845 RGD:5144120 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,640...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...65,662,916
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 CTD Direct Evidence: marker/mechanism CTD 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 MEIS1 Meis homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD 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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18660810 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 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 chr11:112,143,253...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
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 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 chr11:112,025,408...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 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 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 chr15:26,543,546...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 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
G QARS1 glutaminyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Insomnia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:49,095,932...49,104,757
Ensembl chr 3:49,095,932...49,105,130
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22116
    disease of anatomical entity 20684
      nervous system disease 16562
        Neurologic Manifestations 7340
          sleep disorder 154
            Dyssomnias 128
              Intrinsic Sleep Disorders + 103
              Sleep Deprivation 17
              advanced sleep phase syndrome + 9
Path 2
Term Annotations click to browse term
  disease 22116
    disease of anatomical entity 20684
      nervous system disease 16562
        central nervous system disease 14430
          brain disease 13539
            disease of mental health 10213
              sleep disorder 154
                Dyssomnias 128
                  Intrinsic Sleep Disorders + 103
                  Sleep Deprivation 17
                  advanced sleep phase syndrome + 9
paths to the root