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
ISO
mRNA, protein:increased expression:kidney
RGD
PMID:23356498 PMID:20819234
RGD:10755728 , RGD:10766439
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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ICAM1
intercellular adhesion molecule 1
ISO
mRNA:increased expression:lung (rat)
RGD
PMID:20810760
RGD:4145365
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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INHBB
inhibin subunit beta B
ISO
mRNA:increased expression:kidney (rat)
RGD
PMID:15808645
RGD:9743920
NCBI chr 2:120,346,136...120,351,803
Ensembl chr 2:120,346,136...120,351,803
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ITGAM
integrin subunit alpha M
ISO
protein:increased expression:neutrophil (rat)
RGD
PMID:18347540
RGD:329901924
NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892
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MAP2K4
mitogen-activated protein kinase kinase 4
ISO
RGD
PMID:23157661
RGD:7495829
NCBI chr17:12,020,877...12,143,828
Ensembl chr17:12,020,829...12,143,830
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MAP2K6
mitogen-activated protein kinase kinase 6
ISO
RGD
PMID:23157661
RGD:7495829
NCBI chr17:69,414,697...69,553,865
Ensembl chr17:69,414,697...69,553,865
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CACNA1E
calcium voltage-gated channel subunit alpha1 E
IAGP
ClinVar Annotator: match by term: Episodic coma
ClinVar
PMID:28492532
NCBI chr 1:181,317,699...181,808,084
Ensembl chr 1:181,317,690...181,813,262
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CPS1
carbamoyl-phosphate synthase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8438805
NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
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CYP2D6
cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18359183
NCBI chr22:42,126,499...42,130,810
Ensembl chr22:42,126,499...42,130,865
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GCG
glucagon
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:10464538
NCBI chr 2:162,142,882...162,152,247
Ensembl chr 2:162,142,882...162,152,404
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OXT
oxytocin/neurophysin I prepropeptide
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:292422 PMID:5067144 PMID:19397503
NCBI chr20:3,071,620...3,072,517
Ensembl chr20:3,071,620...3,072,517
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TSHB
thyroid stimulating hormone subunit beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24729111
NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302
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TRH
thyrotropin releasing hormone
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:8690305
NCBI chr 3:129,974,720...129,977,935
Ensembl chr 3:129,974,688...129,977,935
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TRH
thyrotropin releasing hormone
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:416961 PMID:8690305
NCBI chr 3:129,974,720...129,977,935
Ensembl chr 3:129,974,688...129,977,935
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ACTL6A
actin like 6A
IAGP
ClinVar Annotator: match by term: Syncope
ClinVar
PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175
NCBI chr 3:179,562,926...179,588,407
Ensembl chr 3:179,562,886...179,588,407
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ACTN2
actinin alpha 2
IAGP
ClinVar Annotator: match by term: Syncope
ClinVar
PMID:23861362 PMID:24033266 PMID:25741868 PMID:26498160 PMID:26899768 PMID:28492532 PMID:30959811 More...
NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631
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CTNNA3
catenin alpha 3
IAGP
ClinVar Annotator: match by term: Syncope
ClinVar
NCBI chr10:65,912,523...67,763,594
Ensembl chr10:65,912,457...67,763,637
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DSP
desmoplakin
IAGP
ClinVar Annotator: match by term: Syncope
ClinVar
PMID:25741868
NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
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KCNE3
potassium voltage-gated channel subfamily E regulatory subunit 3
IAGP
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 chr11:74,454,841...74,467,549
Ensembl chr11:74,454,841...74,467,729
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LIPT2
lipoyl(octanoyl) transferase 2
IAGP
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 chr11:74,490,519...74,493,724
Ensembl chr11:74,490,519...74,493,724
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LOC126862264
CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521
IAGP
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 chr16:3,243,322...3,244,521
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MEFV
MEFV innate immunity regulator, pyrin
IAGP
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 chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
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RYR2
ryanodine receptor 2
IAGP
ClinVar Annotator: match by term: Syncope
ClinVar
NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
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SCN5A
sodium voltage-gated channel alpha subunit 5
IAGP
ClinVar Annotator: match by term: Syncope
ClinVar
PMID:25741868
NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743
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TTN
titin
IAGP
ClinVar Annotator: match by term: Syncope
ClinVar
PMID:24033266 PMID:25741868
NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
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CCK
cholecystokinin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:6281507
NCBI chr 3:42,257,826...42,266,185
Ensembl chr 3:42,257,825...42,266,185
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TRH
thyrotropin releasing hormone
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:6281507
NCBI chr 3:129,974,720...129,977,935
Ensembl chr 3:129,974,688...129,977,935
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NPPB
natriuretic peptide B
IEP
associated with Syncope;protein:increased expression:serum:
RGD
PMID:23373852
RGD:7247623
NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945
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