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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:Brain Hypoxia-Ischemia
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Accession:DOID:9003676 term browser browse the term
Definition:A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions.
Synonyms:exact_synonym: Anoxic Ischemic Encephalopathy;   Anoxic-Ischemic Encephalopathies;   Brain Anoxia Ischemia;   Brain Anoxia-Ischemias;   Brain Hypoxia-Ischemias;   Brain Ischemia-Anoxias;   Brain Ischemia-Hypoxias;   Cerebral Anoxia Ischemia;   Cerebral Anoxia-Ischemias;   Cerebral Hypoxia Ischemia;   Cerebral Hypoxia-Ischemias;   Cerebral Ischemia-Anoxias;   Cerebral Ischemia-Hypoxias;   Hypoxic Ischemic Encephalopathy;   Hypoxic-Ischemic Encephalopathies
 primary_id: MESH:D020925
 xref: EFO:1000846



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Brain Hypoxia-Ischemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR2B activin A receptor type 2B severity ISO mRNA, protein:increased expression:umbilical cord blood (human) RGD PMID:27957679 RGD:329849106 NCBI chr13:23,237,699...23,276,086
Ensembl chr13:23,237,699...23,267,373
JBrowse link
G ADA adenosine deaminase ISO protein:increased activity:brain: RGD PMID:25720338 RGD:152995398 NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245
JBrowse link
G ADK adenosine kinase ISO protein:decreased expression:brain: RGD PMID:25720338 RGD:152995398 NCBI chr14:76,836,072...77,320,586
Ensembl chr14:76,836,095...77,322,416
JBrowse link
G ADNP activity dependent neuroprotector homeobox ISO RGD PMID:16938277 RGD:2312775 NCBI chr17:52,316,388...52,350,732
Ensembl chr17:52,317,913...52,332,079
JBrowse link
G ADORA1 adenosine A1 receptor ISO protein:decreased expression:brain: RGD PMID:25720338 RGD:152995398 NCBI chr 9:113,835,279...113,875,899
Ensembl chr 9:113,835,921...113,872,365
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:22569153 RGD:6903872 NCBI chr  X:95,267,709...95,272,237
Ensembl chr  X:95,269,300...95,270,388
JBrowse link
G AIF1 allograft inflammatory factor 1 ISO protein:increased expression:right cerebral hemisphere (rat) RGD PMID:19447505 RGD:2313021 NCBI chr 7:23,711,752...23,731,191
Ensembl chr 7:23,728,726...23,731,675
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO protein:increased expression:nucleus: RGD PMID:12871572 PMID:28108258 RGD:10053564 RGD:13524865 NCBI chr  X:106,676,596...106,708,290
Ensembl chr  X:106,670,520...106,708,317
JBrowse link
G ARNTL aryl hydrocarbon receptor nuclear translocator like ISO protein:increased expression:pineal gland RGD PMID:23336172 RGD:10043348 NCBI chr 2:45,895,637...46,025,174
Ensembl chr 2:45,895,289...45,988,570
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:21189961 PMID:24089674 PMID:29635023 RGD:10054502 RGD:13782292 RGD:155882465 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,147
JBrowse link
G BCAN brevican ISO RGD PMID:15817274 RGD:14392799 NCBI chr 4:93,432,331...93,450,895
Ensembl chr 4:93,432,330...93,450,831
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:21189961 PMID:24089674 PMID:29635023 RGD:10054502 RGD:13782292 RGD:155882465 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
JBrowse link
G BCL2L1 BCL2 like 1 ISO RGD PMID:24195677 RGD:10053669 NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694
JBrowse link
G BECN1 beclin 1 ISO protein:increased expression:cerebral cortex
protein:increased expression:brain
RGD PMID:22449108 PMID:25919564 RGD:11558017 RGD:6483050 NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA,protein:decreased expression:brain: RGD PMID:23236544 RGD:8699519 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637
JBrowse link
G CASP1 caspase 1, apoptosis-related cysteine peptidase ISO RGD PMID:23046993 RGD:13782359 NCBI chr 9:35,188,066...35,199,364
Ensembl chr 9:35,186,420...35,200,328
JBrowse link
G CASP3 caspase 3 treatment ISO protein:increased activity:cerebral cortex, hippocampus RGD PMID:18603371 PMID:21189961 PMID:23046993 PMID:24089674 PMID:27216999 More... RGD:10054502 RGD:13782279 RGD:13782292 RGD:13782359 RGD:155882465 RGD:2311455 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213
JBrowse link
G CASP8 caspase 8 treatment ISO RGD PMID:23046993 PMID:29635023 RGD:13782292 RGD:13782359 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,468
JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:23046993 PMID:24089674 RGD:13782359 RGD:155882465 NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,516...74,730,007
JBrowse link
G CAST calpastatin ISO RGD PMID:10318818 RGD:5683321 NCBI chr 2:103,255,738...103,378,623
Ensembl chr 2:103,255,750...103,378,623
JBrowse link
G CAT catalase treatment ISO RGD PMID:21978706 RGD:9068474 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 ISO protein:increased expression:forebrain (rat) RGD PMID:9270493 RGD:8549543 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA, protein:increased expression:brain RGD PMID:18095591 RGD:4144890 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,369,122...29,376,343
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO mRNA:increased expression:cerebral hemisphere (rat) RGD PMID:16516309 RGD:4890442 NCBI chr13:29,382,383...29,387,902
Ensembl chr13:29,383,303...29,387,895
JBrowse link
G CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 treatment ISO RGD PMID:25665755 RGD:13782373 NCBI chr12:42,456,063...42,494,494
Ensembl chr12:42,493,392...42,494,413
JBrowse link
G CLOCK clock circadian regulator ISO protein:increased expression:pineal gland RGD PMID:23336172 RGD:10043348 NCBI chr 8:54,793,323...54,910,192
Ensembl chr 8:54,793,342...54,877,777
JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase ISO RGD PMID:19747899 RGD:6483337 NCBI chr12:20,758,081...20,765,655
Ensembl chr12:20,758,083...20,765,553
JBrowse link
G CRP C-reactive protein, pentraxin-related ISO RGD PMID:20220110 RGD:9585994 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
JBrowse link
G CS citrate synthase treatment ISO RGD PMID:15132986 PMID:15569775 RGD:243048479 RGD:243048481 NCBI chr 5:21,669,778...21,700,737
Ensembl chr 5:21,666,585...21,700,711
JBrowse link
G CSF1R colony stimulating factor 1 receptor exacerbates ISO protein:increased expression:right cerebral hemisphere, astrocyte, neuron (rat) RGD PMID:32522286 PMID:33101590 RGD:151665765 RGD:151665766 NCBI chr 2:151,102,138...151,130,311
Ensembl chr 2:151,102,147...151,147,633
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO mRNA:increased expression:brain RGD PMID:17549754 RGD:2311381 NCBI chr  X:57,592,032...57,595,706
Ensembl chr  X:57,592,038...57,595,692
JBrowse link
G DAXX death domain associated protein ISO RGD PMID:21843499 RGD:9587791 NCBI chr 7:29,676,854...29,681,145
Ensembl chr 7:29,676,856...29,681,110
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO protein:decreased expression:brain: RGD PMID:23716065 RGD:9588620 NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,603,087
JBrowse link
G EGR1 early growth response 1 ISO mRNA:increased expression:forebrain (rat) RGD PMID:7684483 RGD:2289081 NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
JBrowse link
G EIF2S1 eukaryotic translation initiation factor 2 subunit alpha ISO RGD PMID:8092984 RGD:10395352 NCBI chr 7:91,085,025...91,109,835
Ensembl chr 7:91,085,335...91,109,827
JBrowse link
G EPHA4 EPH receptor A4 ISO protein:increased expression:brain RGD PMID:21736568 RGD:5688765 NCBI chr15:123,350,867...123,501,872
Ensembl chr15:123,352,816...123,503,126
JBrowse link
G EPO erythropoietin treatment ISO RGD PMID:22156696 PMID:24034924 RGD:10400911 RGD:10401072 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G ERO1A endoplasmic reticulum oxidoreductase 1 alpha ISO mRNA:increased expression:hippocampus RGD PMID:12694393 RGD:632668 NCBI chr 1:182,268,651...182,318,147
Ensembl chr 1:182,265,261...182,318,195
JBrowse link
G FADD Fas associated via death domain treatment ISO RGD PMID:29635023 RGD:13782292 NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,185,675...3,194,818
JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:21843499 RGD:9587791 NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO protein:decreased expression:hippocampus RGD PMID:25262910 RGD:405650622 NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554
JBrowse link
G FOXO3 forkhead box O3 ISO protein:increased expression:cerebral cortex,nucleus: RGD PMID:24229603 RGD:10402203 NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325
JBrowse link
G FST follistatin ISO mRNA:decreased expression:brain (rat) RGD PMID:10415398 RGD:329322882 NCBI chr16:32,806,341...32,811,382
Ensembl chr16:32,805,932...32,811,421
JBrowse link
G GHR growth hormone receptor ISO protein:increased expression:brain RGD PMID:19524466 RGD:2315620 NCBI chr16:27,126,300...27,422,618
Ensembl chr16:27,126,734...27,421,449
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO mRNA:decreased expression:hippocampus (rat) RGD PMID:19761817 RGD:2325954
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO mRNA:decreased expression:hippocampus (rat) RGD PMID:19761817 RGD:2325954 NCBI chr 3:32,749,329...33,149,350
Ensembl chr 3:32,750,700...33,143,499
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO mRNA:decreased expression:hippocampus (rat) RGD PMID:19761817 RGD:2325954 NCBI chr 5:58,477,862...58,948,735
Ensembl chr 5:58,480,528...58,927,558
JBrowse link
G GSN gelsolin severity ISO protein:decreased expression:blood plasma (human) RGD PMID:29466895 RGD:329333029 NCBI chr 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848
JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO mRNA:decreased expression:hippocampus,cortex: RGD PMID:19892002 RGD:9686395 NCBI chr16:29,439,294...29,808,855
Ensembl chr16:29,439,264...29,808,993
JBrowse link
G HDAC3 histone deacetylase 3 ISO protein:decreased expression:brain: RGD PMID:23716065 RGD:9588620 NCBI chr 2:143,273,188...143,287,421
Ensembl chr 2:143,273,192...143,287,399
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha treatment ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:brain (rat)
mRNA, protein:increased expression:brain,kidney (rat)
RGD
CTD
PMID:18210138 PMID:19595151 PMID:23694759 PMID:31784544 RGD:155882534 RGD:9068873 RGD:9068901 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:25447631 RGD:10766440
G IGF1 insulin like growth factor 1 treatment ISO RGD PMID:11672597 PMID:19766709 PMID:23694759 RGD:10046049 RGD:12904932 RGD:8549456 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
JBrowse link
G IGF2 insulin like growth factor 2 disease_progression ISO RGD PMID:16787587 RGD:5510005 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO RGD PMID:10709766 RGD:10402756 NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690
JBrowse link
G IL6 interleukin 6 severity ISO DNA:polymorphism: :174G>C(human) RGD PMID:22117975 RGD:12792241 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
JBrowse link
G INHBA inhibin subunit beta A treatment
severity
ISO mRNA:increased expression:brain (rat)
human construct in rat model
mRNA, protein:increased expression:umbilical cord blood (human)
RGD PMID:10415398 PMID:27957679 RGD:329322882 RGD:329849106 NCBI chr12:53,115,379...53,117,128
NCBI chr18:52,889,684...52,909,260
Ensembl chr18:52,889,684...52,900,967
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21925238 NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860
JBrowse link
G IRAK4 interleukin 1 receptor associated kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21925238 NCBI chr 5:74,842,184...74,858,125
Ensembl chr 5:74,834,600...74,859,344
JBrowse link
G IREB2 iron responsive element binding protein 2 ISO mRNA:increased expression:brain (rat) RGD PMID:27602087 RGD:12903962 NCBI chr 7:47,481,539...47,529,199
Ensembl chr 7:47,478,706...47,529,242
JBrowse link
G KDR kinase insert domain receptor ISO RGD PMID:21277350 RGD:5684383 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO protein:increased expression:brain (rat) RGD PMID:23110519 RGD:7204438
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha ISO RGD PMID:25919564 RGD:11558017 NCBI chr17:37,957,830...37,959,505
Ensembl chr17:37,957,507...37,959,505
JBrowse link
G MAP2 microtubule associated protein 2 ISO RGD PMID:21300124 RGD:6483088 NCBI chr15:112,156,578...112,462,932
Ensembl chr15:112,236,119...112,462,929
JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 ISO RGD PMID:21843499 RGD:9587791 NCBI chr 1:27,380,143...27,600,500
Ensembl chr 1:27,380,142...27,600,493
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 ameliorates ISO protein:increased expression:brain (rat) RGD PMID:29138854 PMID:32734729 RGD:155804273 RGD:155804275 NCBI chr 1:58,482,046...58,548,087
Ensembl chr 1:58,481,956...58,548,057
JBrowse link
G MAPT microtubule associated protein tau treatment ISO RGD PMID:25665755 RGD:13782373 NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,373
JBrowse link
G MBD2 methyl-CpG binding domain protein 2 ISO protein:increased expression:brain: RGD PMID:23716065 RGD:9588620 NCBI chr 1:103,683,077...103,768,372
Ensembl chr 1:103,735,192...103,752,402
JBrowse link
G MBP myelin basic protein ISO protein:decreased expression:white matter: RGD PMID:23715956 RGD:7327196 NCBI chr 1:147,649,516...147,685,289
Ensembl chr 1:147,590,865...147,685,290
JBrowse link
G MIR140 microRNA mir-140 severity ISO miRNA:decreased expression:blood serum (human) RGD PMID:34331407 RGD:329347831 NCBI chr 6:17,077,530...17,077,599
Ensembl chr 6:17,077,507...17,077,620
JBrowse link
G MIR17 microRNA mir-17 ISO RGD PMID:35085690 RGD:329349305 NCBI chr11:60,734,656...60,734,732
Ensembl chr11:60,734,656...60,734,732
JBrowse link
G MIR374A microRNA mir-374a severity ISO miRNA:decreased expression:blood serum (human) RGD PMID:29568675 RGD:155598592 NCBI chr  X:59,602,875...59,602,954
Ensembl chr  X:59,602,875...59,602,954
JBrowse link
G MPO myeloperoxidase ISO protein:increased activity:brain: RGD PMID:25720338 RGD:152995398 NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23694759 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
JBrowse link
G NRF1 nuclear respiratory factor 1 ISO mRNA, protein:increase expression:cerebral cortex RGD PMID:18723421 RGD:2302400 NCBI chr18:19,008,408...19,142,678
Ensembl chr18:18,998,930...19,142,628
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO mRNA:increased expression:brain RGD PMID:19633950 RGD:5684358 NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO RGD PMID:10215166 RGD:10449494 Ensembl chr 5:8,986,462...9,007,435 JBrowse link
G PLAT plasminogen activator, tissue type onset ISO RGD PMID:18467699 RGD:6483831 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
JBrowse link
G PLAU plasminogen activator, urokinase ISO mRNA, protein:increased expression, increased activity:hippocampus (rat) RGD PMID:18467699 PMID:19587273 RGD:2316117 RGD:6483831 NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
JBrowse link
G PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B ISO RGD PMID:23153068 RGD:13515077 NCBI chr12:22,681,244...22,690,978
Ensembl chr12:22,680,980...22,690,952
JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit treatment ISO RGD PMID:30485360 RGD:39938998 NCBI chr 4:79,687,375...79,850,146
Ensembl chr 4:79,687,375...79,846,656
JBrowse link
G PTPN5 protein tyrosine phosphatase non-receptor type 5 ISO STEP33;protein:increased expression:forebrain (rat) RGD PMID:10537057 RGD:9835021 NCBI chr 2:40,458,865...40,521,470
Ensembl chr 2:40,459,049...40,521,461
JBrowse link
G PTPRZ1 protein tyrosine phosphatase receptor type Z1 ISO RGD PMID:16041802 RGD:9590116 NCBI chr18:25,046,027...25,228,276
Ensembl chr18:25,045,742...25,168,053
JBrowse link
G RNF146 ring finger protein 146 ISO RGD PMID:28108258 RGD:13524865 NCBI chr 1:35,909,789...35,927,265
Ensembl chr 1:35,909,575...35,926,968
JBrowse link
G ROBO1 roundabout guidance receptor 1 exacerbates ISO RGD PMID:31356825 RGD:242905191 NCBI chr13:175,348,223...176,479,482
Ensembl chr13:175,348,410...176,479,481
JBrowse link
G S100B S100 calcium binding protein B severity ISO associated with Asphyxia Neonatorum;protein:increased expression:urine
protein:increased expression:blood serum (human)
RGD PMID:14707571 PMID:29568675 RGD:155598592 RGD:5508819
G SERPINE1 serpin family E member 1 ISO RGD PMID:19587273 RGD:2316117 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
JBrowse link
G SLC9A1 solute carrier family 9 member A1 ISO RGD PMID:20883671 RGD:6771331 NCBI chr 6:84,373,921...84,426,447
Ensembl chr 6:84,372,649...84,426,997
JBrowse link
G SLIT2 slit guidance ligand 2 treatment ISO RGD PMID:31356825 RGD:242905191 NCBI chr 8:14,758,426...15,149,515
Ensembl chr 8:14,758,335...15,148,133
JBrowse link
G SPI1 Spi-1 proto-oncogene ISO protein:increased expression:CA1 field of hippocampus RGD PMID:10713349 RGD:9586724 NCBI chr 2:15,227,850...15,245,679
Ensembl chr 2:15,227,881...15,245,677
JBrowse link
G SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 exacerbates ISO RGD PMID:31356825 RGD:242905191 NCBI chr 5:28,300,955...28,605,122
Ensembl chr 5:28,300,950...28,605,120
JBrowse link
G TERT telomerase reverse transcriptase treatment ISO RGD PMID:21940960 RGD:11038672 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G TF transferrin treatment ISO RGD PMID:22736466 RGD:7244383 NCBI chr13:74,930,655...74,970,599
Ensembl chr13:74,930,655...74,972,763
JBrowse link
G TFAM transcription factor A, mitochondrial ISO mRNA:increased expression:cerebral cortex RGD PMID:18723421 RGD:2302400 NCBI chr14:92,261,713...92,279,731
Ensembl chr14:92,259,403...92,279,731
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:28139935 RGD:15090829 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,993...75,428,330
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 ISO mRNA:increased expression:glomerular podocytes (rat) RGD PMID:31784544 RGD:155882534 NCBI chr 9:32,332,768...32,439,184
Ensembl chr 9:32,332,771...32,439,184
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23694759 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 ISO mRNA:increased expression:glomerular podocytes (rat) RGD PMID:31784544 PMID:34852714 RGD:155882534 RGD:155882542 NCBI chr15:7,498,879...7,631,347
Ensembl chr15:7,499,026...7,632,655
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pyridoxamine 5'-phosphate oxidase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPO pyridoxamine 5'-phosphate oxidase ISO ClinVar Annotator: match by term: Pyridoxal phosphate-responsive seizures OMIM
ClinVar
PMID:9536098 PMID:15182361 PMID:15772097 PMID:16199547 PMID:17216302 More... NCBI chr12:24,192,848...24,201,419
Ensembl chr12:24,192,897...24,201,411
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15426
    Pathological Conditions, Signs and Symptoms 12090
      Pathologic Processes 7676
        ischemia 1407
          brain ischemia 618
            Brain Hypoxia-Ischemia 99
              pyridoxamine 5'-phosphate oxidase deficiency 1
Path 2
Term Annotations click to browse term
  disease 15426
    disease of anatomical entity 15095
      nervous system disease 13248
        central nervous system disease 11836
          brain disease 11107
            cerebrovascular disease 945
              brain ischemia 618
                Brain Hypoxia-Ischemia 99
                  pyridoxamine 5'-phosphate oxidase deficiency 1
paths to the root