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: Consciousness Disorders
Accession: DOID:9000484
browse the term
Definition: Organic mental disorders in which there is impairment of the ability to maintain awareness of self and environment and to respond to environmental stimuli. Dysfunction of the cerebral hemispheres or brain stem RETICULAR FORMATION may result in this condition.
Synonyms: exact_synonym: Altered Level of Consciousness; Consciousness Disorder; Consciousness, Level Altered; Consciousness, Level Depressed; Depressed Level of Consciousness; Semiconsciousness
primary_id: MESH:D003244
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Hmox1
heme oxygenase 1
treatment
IEP IMP
mRNA, protein:increased expression:kidney
RGD
PMID:23356498 PMID:20819234
RGD:10755728 , RGD:10766439
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Icam1
intercellular adhesion molecule 1
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:20810760
RGD:4145365
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Inhbb
inhibin subunit beta B
IEP
mRNA:increased expression:kidney (rat)
RGD
PMID:15808645
RGD:9743920
NCBI chr13:30,530,860...30,536,566
Ensembl chr13:30,530,860...30,537,832
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Itgam
integrin subunit alpha M
IEP
protein:increased expression:neutrophil (rat)
RGD
PMID:18347540
RGD:329901924
NCBI chr 1:182,659,047...182,709,501
Ensembl chr 1:182,659,000...182,709,503
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Map2k4
mitogen activated protein kinase kinase 4
IDA
RGD
PMID:23157661
RGD:7495829
NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993
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Map2k6
mitogen-activated protein kinase kinase 6
IDA
RGD
PMID:23157661
RGD:7495829
NCBI chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293
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Cacna1e
calcium voltage-gated channel subunit alpha1 E
ISO
ClinVar Annotator: match by term: Episodic coma
ClinVar
PMID:28492532
NCBI chr13:66,574,659...67,063,443
Ensembl chr13:66,581,920...66,894,450
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Cps1
carbamoyl-phosphate synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8438805
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
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Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18359183
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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Gcg
glucagon
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10464538
NCBI chr 3:47,113,914...47,122,958
Ensembl chr 3:47,113,914...47,122,929
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Oxt
oxytocin/neurophysin I prepropeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:292422 PMID:5067144 PMID:19397503
NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490
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Tshb
thyroid stimulating hormone subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24729111
NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
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Trh
thyrotropin releasing hormone
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:8690305
NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
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Trh
thyrotropin releasing hormone
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:416961 PMID:8690305
NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
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Actl6a
actin-like 6A
ISO
ClinVar Annotator: match by term: Syncope
ClinVar
PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175
NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401
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Actn2
actinin alpha 2
ISO
ClinVar Annotator: match by term: Syncope
ClinVar
PMID:23861362 PMID:24033266 PMID:25741868 PMID:26498160 PMID:26899768 PMID:28492532 PMID:30959811 More...
NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
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Ctnna3
catenin alpha 3
ISO
ClinVar Annotator: match by term: Syncope
ClinVar
NCBI chr20:23,614,469...25,200,026
Ensembl chr20:23,623,560...25,199,978
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Dsp
desmoplakin
ISO
ClinVar Annotator: match by term: Syncope
ClinVar
PMID:25741868
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
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Kcne3
potassium voltage-gated channel subfamily E regulatory subunit 3
ISO
ClinVar Annotator: match by term: Syncope
ClinVar
PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 PMID:16449802 PMID:17395131 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020
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Lipt2
lipoyl(octanoyl) transferase 2
ISO
ClinVar Annotator: match by term: Syncope
ClinVar
PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 PMID:16449802 PMID:17395131 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 1:154,504,563...154,506,890
Ensembl chr 1:154,504,563...154,506,890
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Mefv
MEFV innate immunity regulator, pyrin
ISO
ClinVar Annotator: match by term: Syncope
ClinVar
PMID:9668175 PMID:10090880 PMID:10612841 PMID:10787450 PMID:10842288 PMID:11464238 PMID:11977178 PMID:15018633 PMID:15024744 PMID:16730661 PMID:17489852 PMID:19253030 PMID:19934083 PMID:20041150 PMID:20534143 PMID:21246368 PMID:21413889 PMID:21978701 PMID:22614345 PMID:22903357 PMID:23505242 PMID:23588594 PMID:23907647 PMID:23981758 PMID:24251727 PMID:24469716 PMID:24929125 PMID:25615955 PMID:25741868 PMID:26078663 PMID:28492532 PMID:29047407 PMID:29543225 PMID:29599418 PMID:31989427 PMID:32312770 PMID:33733382 PMID:34426522 PMID:35098403 More...
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Ryr2
ryanodine receptor 2
ISO
ClinVar Annotator: match by term: Syncope
ClinVar
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
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Scn5a
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: Syncope
ClinVar
PMID:25741868
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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Ttn
titin
ISO
ClinVar Annotator: match by term: Syncope
ClinVar
PMID:24033266 PMID:25741868
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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Cck
cholecystokinin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6281507
NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084
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Trh
thyrotropin releasing hormone
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:6281507
NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
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Nppb
natriuretic peptide B
ISO
associated with Syncope;protein:increased expression:serum:
RGD
PMID:23373852
RGD:7247623
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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