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: brain edema
Accession: DOID:4724
browse the term
Definition: A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma. (DO)
Synonyms: exact_synonym: Brain Swelling; Cerebral Edema; Cerebral Edemas, Vasogenic; Cytotoxic Brain Edema; Cytotoxic Cerebral Edema; Intracranial Edema; Vasogenic Brain Edema; brain swellings; intracranial swelling; vasogenic cerebral edema; wet brain
primary_id: MESH:D001929
xref: EFO:1000845
For additional species annotation, visit the
Alliance of Genome Resources .
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Abcc8
ATP binding cassette subfamily C member 8
treatment
IMP ISO
associated with Cerebrovascular Accident associated with Neoplasms, Experimental ClinVar Annotator: match by term: Cerebral edema
ClinVar RGD
PMID:25741868 PMID:26467025 PMID:27677908 PMID:28492532 PMID:16550187 PMID:23633925 More...
RGD:1598635 , RGD:12791991
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Aqp1
aquaporin 1
IEP ISO
associated with Anoxia mRNA:increased expression:neocortex, Pyramidal cells (human)
RGD
PMID:21560328 PMID:27487831
RGD:5148033 , RGD:329969876
NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
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Aqp3
aquaporin 3 (Gill blood group)
ISO
mRNA:increased expression:neocortex,Pyramidal cells (human)
RGD
PMID:27487831
RGD:329969876
NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720
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Aqp4
aquaporin 4
ISO IEP
associated with Drug-Induced Liver Injury;protein:increased expression:cerebral cortex associated with Anoxia associated with Drug-Induced Liver Injury;protein:increased expression:cerebral cortex, astrocyte, plasma membrane associated with Cerebral Hemorrhage associated with Embolism, Fat;protein:increased expression:brain
RGD
PMID:21187412 PMID:20938728 PMID:21560328 PMID:20720509 PMID:20541575 PMID:20111877 More...
RGD:5148010 , RGD:5148020 , RGD:5148033 , RGD:5490122 , RGD:5490126 , RGD:5490129
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Avpr1a
arginine vasopressin receptor 1A
IMP
associated with Reperfusion Injury
RGD
PMID:16671476
RGD:2300375
NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215
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C5
complement C5
IEP
associated with Cerebral Hemorrhage
RGD
PMID:11136932
RGD:1600655
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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Cacna1b
calcium voltage-gated channel subunit alpha1 B
ISO
mRNA:decreased expression:neocortex,Pyramidal cells (human)
RGD
PMID:27487831
RGD:329969876
NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091
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Cp
ceruloplasmin
IDA
RGD
PMID:16671455
RGD:1599627
NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Crh
corticotropin releasing hormone
ISO
mRNA:decreased expression:neocortex,Pyramidal cells (human)
RGD
PMID:27487831
RGD:329969876
NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
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Cxcl2
C-X-C motif chemokine ligand 2
IEP
associated with Cerebral Hemorrhage;protein:increased expression:cerebral cortex
RGD
PMID:18830379
RGD:5135068
NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
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Dmd
dystrophin
IDA
associated with Status Epilepticus
RGD
PMID:22338606
RGD:6771363
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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F2
coagulation factor II, thrombin
IEP
associated with Cerebral Hemorrhage
RGD
PMID:20541575
RGD:5490126
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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F2r
coagulation factor II (thrombin) receptor
IEP
associated with Cerebral Hemorrhage
RGD
PMID:20541575
RGD:5490126
NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870
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Gfap
glial fibrillary acidic protein
IEP
associated with Embolism, Fat;protein:increased expression:brain
RGD
PMID:20111877
RGD:5490129
NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
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Hmox1
heme oxygenase 1
IEP
associated with Cerebral Hemorrhage;mRNA, protein:increased expression:brain
RGD
PMID:23438812
RGD:10766444
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
associated with Reperfusion Injury; protein:increased expression:brain (rat)
RGD
PMID:20570121
RGD:4145390
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il18
interleukin 18
treatment
IDA
associated with Status Epilepticus
RGD
PMID:22338606
RGD:6771363
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Kcnn4
potassium calcium-activated channel subfamily N member 4
ISO
mRNA:increased expression:neocortex,Pyramidal cells (human)
RGD
PMID:27487831
RGD:329969876
NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
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Map3k7
mitogen activated protein kinase kinase kinase 7
ISO
RGD
PMID:26347470
RGD:11074637
NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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Mmp9
matrix metallopeptidase 9
IEP ISO
associated with Cerebral Hemorrhage CTD Direct Evidence: therapeutic
CTD RGD
PMID:15529013 PMID:20541575
RGD:5490126
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Myl9
myosin light chain 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17419808
NCBI chr 3:145,281,943...145,288,333
Ensembl chr 3:145,281,937...145,288,333
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Mylk
myosin light chain kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19943851
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19374494
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Ntn1
netrin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:29162556
NCBI chr10:52,899,933...53,098,591
Ensembl chr10:52,899,934...53,085,326
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Plat
plasminogen activator, tissue type
IEP ISO
associated with Burns;mRNA:increased expression:brain CTD Direct Evidence: therapeutic
CTD RGD
PMID:29651748 PMID:18718505
RGD:6483826
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Plau
plasminogen activator, urokinase
IEP ISO
associated with Burns;mRNA:increased expression:brain CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11677890 PMID:18718505
RGD:6483826
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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S100b
S100 calcium binding protein B
IEP ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19027832 PMID:19147496
RGD:5508832
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Scn3b
sodium voltage-gated channel beta subunit 3
ISO
mRNA:increased expression:neocortex,Pyramidal cells (human)
RGD
PMID:27487831
RGD:329969876
NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868
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Serpine2
serpin family E member 2
IEP
associated with Cerebral Hemorrhage
RGD
PMID:18442833
RGD:2317927
NCBI chr 9:81,124,746...81,188,866
Ensembl chr 9:81,124,804...81,188,826
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Serpinf1
serpin family F member 1
treatment
ISO
human protein in a mouse model
RGD
PMID:17692294
RGD:8554891
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Sod2
superoxide dismutase 2
ISO
mRNA:increased expression:neocortex,Pyramidal cells (human)
RGD
PMID:27487831
RGD:329969876
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Tjp1
tight junction protein 1
ISO
ClinVar Annotator: match by term: Cerebral edema
ClinVar
PMID:25741868
NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
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Tlr3
toll-like receptor 3
ISO
ClinVar Annotator: match by term: Cerebral edema
ClinVar
PMID:25741868
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21276434
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Vegfa
vascular endothelial growth factor A
IDA IEP
associated with Anoxia
RGD
PMID:15879344 PMID:21560328
RGD:1580557 , RGD:5148033
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Naxe
NAD(P)HX epimerase
ISO
ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
ClinVar
PMID:25741868 PMID:27290639 PMID:27616477 PMID:28492532 PMID:33798445
NCBI chr 2:173,518,971...173,521,036
Ensembl chr 2:173,518,971...173,521,040
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Col4a2
collagen type IV alpha 2 chain
ISO
ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
ClinVar
PMID:25719457
NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
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Naxe
NAD(P)HX epimerase
ISO
ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 | ClinVar Annotator: match by term: NAXE-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:27290639 PMID:27616477 PMID:28492532 PMID:33798445
NCBI chr 2:173,518,971...173,521,036
Ensembl chr 2:173,518,971...173,521,040
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Naxd
NAD(P)HX dehydratase
ISO
ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30576410 PMID:31755961 PMID:32462209 PMID:35231119 More...
NCBI chr16:77,986,148...78,004,200
Ensembl chr16:77,987,726...78,004,192
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Ccdc88a
coiled coil domain containing 88A
ISO
ClinVar Annotator: match by term: PEHO syndrome | ClinVar Annotator: match by term: PEHO-like syndrome
ClinVar
PMID:25741868 PMID:26917597 PMID:28492532
NCBI chr14:103,104,091...103,256,112
Ensembl chr14:103,103,513...103,252,368
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Igf1
insulin-like growth factor 1
ISO
protein:decreased expression:cerebrospinal fluid:
RGD
PMID:11701291
RGD:8548849
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Kif1a
kinesin family member 1A
ISO
ClinVar Annotator: match by term: PEHO syndrome
ClinVar
PMID:21376300 PMID:25253658 PMID:25265257 PMID:25533962 PMID:25741868 PMID:26125038 PMID:26486474 PMID:28492532 PMID:31805580 PMID:33880452 More...
NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
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Znhit3
zinc finger, HIT-type containing 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Infantile cerebellooptic atrophy | ClinVar Annotator: match by term: PEHO syndrome
OMIM CTD ClinVar
PMID:25741868 PMID:28335020 PMID:28492532 PMID:31048081
NCBI chr10:69,775,885...69,790,471
Ensembl chr10:69,748,789...69,790,475 Ensembl chr10:69,748,789...69,790,475
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