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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
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Accession:DOID:9004756 term browser browse the term
Definition:A reduction in brain oxygen supply due to ANOXEMIA (a reduced amount of oxygen being carried in the blood by HEMOGLOBIN), or to a restriction of the blood supply to the brain, or both. Severe hypoxia is referred to as anoxia, and is a relatively common cause of injury to the central nervous system. Prolonged brain anoxia may lead to BRAIN DEATH or a PERSISTENT VEGETATIVE STATE. Histologically, this condition is characterized by neuronal loss which is most prominent in the HIPPOCAMPUS; GLOBUS PALLIDUS; CEREBELLUM; and inferior olives.
Synonyms:exact_synonym: Anoxic Brain Damage;   Anoxic Encephalopathies;   Anoxic Encephalopathy;   Brain Anoxia;   Cerebral Anoxia;   Cerebral Hypoxia;   Hypoxic Brain Damage;   Hypoxic Encephalopathies;   Hypoxic Encephalopathy
 primary_id: MESH:D002534
 xref: EFO:1001766



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Brain Hypoxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM15 ADAM metallopeptidase domain 15 ISO RGD PMID:22230263 RGD:13703065 NCBI chr 1:130,398,961...130,410,860
Ensembl chr 1:134,008,959...134,020,467
JBrowse link
G ADAM17 ADAM metallopeptidase domain 17 ISO RGD PMID:22230263 RGD:13703065 NCBI chr2A:9,478,080...9,545,363
Ensembl chr2A:9,641,201...9,708,054
JBrowse link
G EP300 E1A binding protein p300 ISO mRNA, protein:increased expression:hippocampus (rat) RGD PMID:19103185 RGD:2311713 NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
JBrowse link
G EPO erythropoietin treatment ISO associated with Brain Injuries RGD PMID:21116766 PMID:24344874 RGD:10400899 RGD:10401067 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
JBrowse link
G EPOR erythropoietin receptor treatment ISO associated with Brain Injuries RGD PMID:21116766 PMID:24344874 RGD:10400899 RGD:10401067 NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383
JBrowse link
G GJB6 gap junction protein beta 6 ISO RGD PMID:20034754 RGD:7364784 NCBI chr13:1,549,089...1,559,452
Ensembl chr13:19,864,939...19,865,724
JBrowse link
G GJD2 gap junction protein delta 2 ISO RGD PMID:20034754 RGD:7364784 NCBI chr15:13,668,639...13,672,691
Ensembl chr15:31,928,157...31,931,474
JBrowse link
G IREB2 iron responsive element binding protein 2 ISO protein:increased expression:periventricular white matter (rat) RGD PMID:22159112 RGD:6893269 NCBI chr15:57,367,314...57,430,322
Ensembl chr15:76,331,610...76,394,476
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:cerebellum (mouse)
CTD
RGD
PMID:17285299 RGD:6482794 NCBI chr 3:4,448,574...4,802,545
Ensembl chr 3:4,572,921...4,904,811
JBrowse link
G ITPR2 inositol 1,4,5-trisphosphate receptor type 2 ISO mRNA, protein:increased expression:cerebellum (mouse)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17285299 RGD:6482794 NCBI chr12:59,478,206...59,984,572
Ensembl chr12:62,092,241...62,596,018
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:caudate putamen (rat) RGD PMID:14980808 RGD:7794714 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G PAM peptidylglycine alpha-amidating monooxygenase ISO protein:increased activity:brain stem (rat) RGD PMID:18818385 RGD:6483514 NCBI chr 5:98,104,058...98,385,157
Ensembl chr 5:103,913,456...104,085,774
JBrowse link
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 chr 3:38,350,838...38,389,839
Ensembl chr 3:38,633,093...38,662,063
JBrowse link
G ADA adenosine deaminase ISO protein:increased activity:brain: RGD PMID:25720338 RGD:152995398 NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868
JBrowse link
G ADK adenosine kinase ISO protein:decreased expression:brain: RGD PMID:25720338 RGD:152995398 NCBI chr10:70,672,967...71,236,950
Ensembl chr10:73,342,900...73,902,490
JBrowse link
G ADNP activity dependent neuroprotector homeobox ISO RGD PMID:16938277 RGD:2312775 NCBI chr20:47,233,696...47,276,075
Ensembl chr20:48,361,043...48,400,387
JBrowse link
G ADORA1 adenosine A1 receptor ISO protein:decreased expression:brain: RGD PMID:25720338 RGD:152995398 NCBI chr 1:178,728,751...178,769,066
Ensembl chr 1:183,023,466...183,063,760
JBrowse link
G AGTR2 angiotensin II receptor type 2 ISO RGD PMID:22569153 RGD:6903872 NCBI chr  X:105,252,903...105,257,171
Ensembl chr  X:115,671,594...115,672,685
JBrowse link
G AIF1 allograft inflammatory factor 1 ISO protein:increased expression:right cerebral hemisphere (rat) RGD PMID:19447505 RGD:2313021 NCBI chr 6:31,276,215...31,278,051
Ensembl chr 6:32,166,301...32,168,125
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:119,256,425...119,292,612
Ensembl chr  X:129,550,287...129,586,271
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 chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
JBrowse link
G BCAN brevican ISO RGD PMID:15817274 RGD:14392799 NCBI chr 1:131,985,310...132,003,068
Ensembl chr 1:135,808,783...135,826,344
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:21189961 PMID:24089674 PMID:29635023 RGD:10054502 RGD:13782292 RGD:155882465 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
JBrowse link
G BCL2L1 BCL2 like 1 ISO RGD PMID:24195677 RGD:10053669 NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
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 chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286
JBrowse link
G BMAL1 basic helix-loop-helix ARNT like 1 ISO protein:increased expression:pineal gland RGD PMID:23336172 RGD:10043348 NCBI chr11:13,436,580...13,547,135
Ensembl chr11:13,163,028...13,240,376
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO mRNA,protein:decreased expression:brain: RGD PMID:23236544 RGD:8699519 NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752
JBrowse link
G CASP1 caspase 1 ISO RGD PMID:23046993 RGD:13782359 NCBI chr11:99,965,964...99,975,640
Ensembl chr11:103,448,497...103,458,149
Ensembl chr11:103,448,497...103,458,149
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 chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
JBrowse link
G CASP8 caspase 8 treatment ISO RGD PMID:23046993 PMID:29635023 RGD:13782292 RGD:13782359 NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:23046993 PMID:24089674 RGD:13782359 RGD:155882465 NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266
JBrowse link
G CAST calpastatin ISO RGD PMID:10318818 RGD:5683321 NCBI chr 5:91,972,572...92,084,657
Ensembl chr 5:97,527,071...97,636,650
JBrowse link
G CAT catalase treatment ISO RGD PMID:21978706 RGD:9068474 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO protein:increased expression:forebrain (rat) RGD PMID:9270493 RGD:8549543 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA, protein:increased expression:brain RGD PMID:18095591 RGD:4144890 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO mRNA:increased expression:cerebral hemisphere (rat) RGD PMID:16516309 RGD:4890442 NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379
JBrowse link
G CDK5R1 cyclin dependent kinase 5 regulatory subunit 1 treatment ISO RGD PMID:25665755 RGD:13782373 NCBI chr17:24,285,069...24,289,311
Ensembl chr17:24,577,537...24,579,232
JBrowse link
G CLOCK clock circadian regulator ISO protein:increased expression:pineal gland RGD PMID:23336172 RGD:10043348 NCBI chr 4:68,391,310...68,509,813
Ensembl chr 4:75,018,898...75,066,726
JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase ISO RGD PMID:19747899 RGD:6483337 NCBI chr17:15,338,085...15,349,089
Ensembl chr17:15,560,056...15,568,916
JBrowse link
G CRP C-reactive protein ISO RGD PMID:20220110 RGD:9585994 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G CS citrate synthase treatment ISO RGD PMID:15132986 PMID:15569775 RGD:243048479 RGD:243048481 NCBI chr12:32,614,982...32,643,719
Ensembl chr12:32,867,225...32,895,854
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 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO mRNA:increased expression:brain RGD PMID:17549754 RGD:2311381 NCBI chr  X:60,880,759...60,883,355
Ensembl chr  X:70,933,160...70,935,756
JBrowse link
G DAXX death domain associated protein ISO RGD PMID:21843499 RGD:9587791 NCBI chr 6:32,890,846...32,895,307
Ensembl chr 6:34,004,543...34,008,717
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO protein:decreased expression:brain: RGD PMID:23716065 RGD:9588620 NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605
JBrowse link
G EGR1 early growth response 1 ISO mRNA:increased expression:forebrain (rat) RGD PMID:7684483 RGD:2289081 NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260
JBrowse link
G EIF2S1 eukaryotic translation initiation factor 2 subunit alpha ISO RGD PMID:8092984 RGD:10395352 NCBI chr14:47,935,691...47,960,055
Ensembl chr14:66,813,953...66,839,866
JBrowse link
G EPHA4 EPH receptor A4 ISO protein:increased expression:brain RGD PMID:21736568 RGD:5688765 NCBI chr2B:108,664,475...108,818,802
Ensembl chr2B:227,248,958...227,402,790
JBrowse link
G EPO erythropoietin treatment ISO RGD PMID:22156696 PMID:24034924 RGD:10400911 RGD:10401072 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
JBrowse link
G ERO1A endoplasmic reticulum oxidoreductase 1 alpha ISO mRNA:increased expression:hippocampus RGD PMID:12694393 RGD:632668 NCBI chr14:33,236,087...33,292,127
Ensembl chr14:51,520,048...51,575,798
JBrowse link
G FADD Fas associated via death domain treatment ISO RGD PMID:29635023 RGD:13782292 NCBI chr11:65,300,889...65,305,020 JBrowse link
G FAS Fas cell surface death receptor ISO RGD PMID:21843499 RGD:9587791 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G FOXO3 forkhead box O3 ISO protein:increased expression:cerebral cortex,nucleus: RGD PMID:24229603 RGD:10402203 NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272
JBrowse link
G FST follistatin ISO mRNA:decreased expression:brain (rat) RGD PMID:10415398 RGD:329322882 NCBI chr 5:60,544,495...60,550,516 JBrowse link
G GHR growth hormone receptor ISO protein:increased expression:brain RGD PMID:19524466 RGD:2315620 NCBI chr 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO mRNA:decreased expression:hippocampus (rat) RGD PMID:19761817 RGD:2325954 NCBI chr 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO mRNA:decreased expression:hippocampus (rat) RGD PMID:19761817 RGD:2325954 NCBI chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO mRNA:decreased expression:hippocampus (rat) RGD PMID:19761817 RGD:2325954 NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799
JBrowse link
G GSN gelsolin severity ISO protein:decreased expression:blood plasma (human) RGD PMID:29466895 RGD:329333029 NCBI chr 9:92,413,819...92,460,483
Ensembl chr 9:120,741,148...120,805,831
JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO mRNA:decreased expression:hippocampus,cortex: RGD PMID:19892002 RGD:9686395 NCBI chr 5:64,673,392...65,116,259
Ensembl chr 5:69,724,767...70,158,761
JBrowse link
G HDAC3 histone deacetylase 3 ISO protein:decreased expression:brain: RGD PMID:23716065 RGD:9588620 NCBI chr 5:136,981,790...136,997,786
Ensembl chr 5:143,094,406...143,110,322
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha treatment ISO mRNA, protein:increased expression:brain,kidney (rat)
CTD Direct Evidence: marker/mechanism
protein:increased expression:brain (rat)
RGD
CTD
PMID:18210138 PMID:19595151 PMID:23694759 PMID:31784544 RGD:155882534 RGD:9068873 RGD:9068901 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
JBrowse link
G HMOX1 heme oxygenase 1 treatment ISO RGD PMID:25447631 RGD:10766440 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063
JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A ISO RGD PMID:22526757 RGD:7257595 NCBI chr 6:31,476,710...31,491,411 JBrowse link
G IGF1 insulin like growth factor 1 treatment ISO RGD PMID:11672597 PMID:19766709 PMID:23694759 RGD:10046049 RGD:12904932 RGD:8549456 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
JBrowse link
G IGF2 insulin like growth factor 2 disease_progression ISO RGD PMID:16787587 RGD:5510005 NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO RGD PMID:10709766 RGD:10402756 NCBI chr 7:46,564,234...46,573,145 JBrowse link
G IL1B interleukin 1 beta ISO protein:increased expression:brain (rat) RGD PMID:23110519 RGD:7204438 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL6 interleukin 6 severity ISO DNA:polymorphism: :174G>C(human) RGD PMID:22117975 RGD:12792241 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G INHBA inhibin subunit beta A severity
treatment
ISO mRNA:increased expression:brain (rat)
mRNA, protein:increased expression:umbilical cord blood (human)
human construct in rat model
RGD PMID:10415398 PMID:27957679 RGD:329322882 RGD:329849106 NCBI chr 7:42,538,591...42,556,578
Ensembl chr 7:42,580,730...42,595,097
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21925238 NCBI chr  X:143,560,802...143,570,185
Ensembl chr  X:153,446,827...153,460,602
JBrowse link
G IRAK4 interleukin 1 receptor associated kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21925238 NCBI chr12:44,941,862...44,972,520
Ensembl chr12:45,810,917...45,841,492
JBrowse link
G IREB2 iron responsive element binding protein 2 ISO mRNA:increased expression:brain (rat) RGD PMID:27602087 RGD:12903962 NCBI chr15:57,367,314...57,430,322
Ensembl chr15:76,331,610...76,394,476
JBrowse link
G KDR kinase insert domain receptor ISO RGD PMID:21277350 RGD:5684383 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha ISO RGD PMID:25919564 RGD:11558017 NCBI chr20:30,887,345...30,888,986
Ensembl chr20:32,010,284...32,020,411
JBrowse link
G MAP2 microtubule associated protein 2 ISO RGD PMID:21300124 RGD:6483088 NCBI chr2B:96,681,268...96,991,650
Ensembl chr2B:215,314,857...215,391,728
JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 ISO RGD PMID:21843499 RGD:9587791 NCBI chr 6:134,316,841...134,582,843
Ensembl chr 6:138,406,398...138,641,727
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 6:88,398,329...88,470,926
Ensembl chr 6:91,664,263...91,737,468
JBrowse link
G MAPT microtubule associated protein tau treatment ISO RGD PMID:25665755 RGD:13782373 NCBI chr17:11,373,220...11,506,669
Ensembl chr17:11,458,159...11,523,129
JBrowse link
G MBD2 methyl-CpG binding domain protein 2 ISO protein:increased expression:brain: RGD PMID:23716065 RGD:9588620 NCBI chr18:47,534,356...47,609,481 JBrowse link
G MBP myelin basic protein ISO protein:decreased expression:white matter: RGD PMID:23715956 RGD:7327196 NCBI chr18:70,369,882...70,526,693
Ensembl chr18:73,629,522...73,755,351
JBrowse link
G MMP3 matrix metallopeptidase 3 treatment ISO RGD PMID:21038694 RGD:8694100 NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
JBrowse link
G MPO myeloperoxidase ISO protein:increased activity:brain: RGD PMID:25720338 RGD:152995398 NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111
JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase ISO protein:increased activity:brain: RGD PMID:25720338 RGD:152995398 NCBI chr17:14,772,054...14,780,398
Ensembl chr17:14,996,420...15,004,242
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23694759 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G NRF1 nuclear respiratory factor 1 ISO mRNA, protein:increase expression:cerebral cortex RGD PMID:18723421 RGD:2302400 NCBI chr 7:121,574,061...121,719,604
Ensembl chr 7:134,113,482...134,240,158
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO mRNA:increased expression:brain RGD PMID:19633950 RGD:5684358 Ensembl chr 1:136,007,476...136,047,355 JBrowse link
G PDGFB platelet derived growth factor subunit B ISO RGD PMID:10215166 RGD:10449494 NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883
JBrowse link
G PLAT plasminogen activator, tissue type onset ISO RGD PMID:18467699 RGD:6483831 NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779
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 chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136
JBrowse link
G PPP1R1B protein phosphatase 1 regulatory inhibitor subunit 1B ISO RGD PMID:23153068 RGD:13515077 NCBI chr17:17,652,216...17,662,085
Ensembl chr17:17,868,965...17,878,120
JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit treatment ISO RGD PMID:30485360 RGD:39938998 NCBI chr 8:44,201,391...44,386,803
Ensembl chr 8:41,593,029...41,778,299
JBrowse link
G PTPN5 protein tyrosine phosphatase non-receptor type 5 ISO STEP33;protein:increased expression:forebrain (rat) RGD PMID:10537057 RGD:9835021 NCBI chr11:18,758,285...18,822,845
Ensembl chr11:18,673,366...18,711,885
JBrowse link
G PTPRZ1 protein tyrosine phosphatase receptor type Z1 ISO RGD PMID:16041802 RGD:9590116 NCBI chr 7:113,882,557...114,073,283
Ensembl chr 7:126,569,630...126,758,155
JBrowse link
G RNF146 ring finger protein 146 ISO RGD PMID:28108258 RGD:13524865 NCBI chr 6:125,057,312...125,079,096
Ensembl chr 6:129,190,562...129,191,733
JBrowse link
G ROBO1 roundabout guidance receptor 1 exacerbates ISO RGD PMID:31356825 RGD:242905191 NCBI chr 3:78,707,802...79,876,519
Ensembl chr 3:80,581,388...81,569,308
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 NCBI chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953
JBrowse link
G SERPINE1 serpin family E member 1 ISO RGD PMID:19587273 RGD:2316117 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
JBrowse link
G SLC9A1 solute carrier family 9 member A1 ISO RGD PMID:20883671 RGD:6771331 NCBI chr 1:26,359,818...26,418,910
Ensembl chr 1:27,414,937...27,475,089
JBrowse link
G SLIT2 slit guidance ligand 2 treatment ISO RGD PMID:31356825 RGD:242905191 NCBI chr 4:14,654,448...15,023,708
Ensembl chr 4:20,158,952...20,314,656
JBrowse link
G SPI1 Spi-1 proto-oncogene ISO protein:increased expression:CA1 field of hippocampus RGD PMID:10713349 RGD:9586724 NCBI chr11:47,301,245...47,326,891
Ensembl chr11:47,853,991...47,880,259
JBrowse link
G SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 exacerbates ISO RGD PMID:31356825 RGD:242905191 NCBI chr12:24,760,093...25,066,794
Ensembl chr12:25,262,893...25,564,180
JBrowse link
G TERT telomerase reverse transcriptase treatment ISO RGD PMID:21940960 RGD:11038672 Ensembl chr 5:1,300,960...1,338,872 JBrowse link
G TF transferrin treatment ISO RGD PMID:22736466 RGD:7244383 NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476
JBrowse link
G TFAM transcription factor A, mitochondrial ISO mRNA:increased expression:cerebral cortex RGD PMID:18723421 RGD:2302400 NCBI chr10:54,917,578...54,934,124
Ensembl chr10:57,138,437...57,147,972
JBrowse link
G TLR2 toll like receptor 2 ISO RGD PMID:28139935 RGD:15090829 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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 chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23694759 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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 chr2B:15,325,094...15,460,908
Ensembl chr2B:148,460,904...148,596,500
JBrowse link
Chronic Intermittent Hypoxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO mRNA:increased expression:carotid body RGD PMID:24036592 RGD:11039031 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G AGT angiotensinogen ISO mRNA, protein:increased expression:type I cell of carotid body RGD PMID:24036592 RGD:11039031 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO mRNA:increased expression:kidney cortex (rat) RGD PMID:32416216 RGD:401793731 NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380
JBrowse link
G AHR aryl hydrocarbon receptor ISO mRNA:increased expression:kidney cortex, kidney medulla, liver (rat) RGD PMID:32416216 RGD:401793731 NCBI chr 7:17,949,254...17,998,737
Ensembl chr 7:17,278,637...17,326,171
JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO mRNA:increased expression:liver, visceral adipose tissue (rat) RGD PMID:32416216 RGD:401793731 NCBI chr 1:126,160,017...126,226,222
Ensembl chr 1:129,809,431...129,875,629
JBrowse link
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:26769958 RGD:13792505 NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:26769958 RGD:13792505 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
JBrowse link
G BECN1 beclin 1 ISO RGD PMID:24990154 RGD:11561988 NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286
JBrowse link
G BNIP3 BCL2 interacting protein 3 ISO RGD PMID:24990154 RGD:11561988 NCBI chr10:128,671,663...128,685,952
Ensembl chr10:132,858,211...132,871,634
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO mRNA, protein:increased expression:liver (rat) RGD PMID:32626927 RGD:401959337 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO mRNA:increased expression:kidney cortex, kidney medulla, liver (rat) RGD PMID:32416216 RGD:401793731 NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636
JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO mRNA:increased expression:kidney medulla (rat) RGD PMID:32416216 RGD:401793731 NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560
JBrowse link
G FADD Fas associated via death domain treatment ISO RGD PMID:26769958 RGD:13792505 NCBI chr11:65,300,889...65,305,020 JBrowse link
G FN1 fibronectin 1 ISO mRNA:increased expression:kidney cortex (rat) RGD PMID:32416216 RGD:401793731 NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO mRNA:increased expression:kidney cortex, kidney medulla (rat) RGD PMID:32416216 RGD:401793731 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
JBrowse link
G HIF3A hypoxia inducible factor 3 subunit alpha ISO mRNA:increased expression:kidney cortex, kidney medulla (rat) RGD PMID:32416216 RGD:401793731 NCBI chr19:43,243,290...43,326,146
Ensembl chr19:51,815,809...51,862,039
JBrowse link
G HK1 hexokinase 1 ISO mRNA, protein:increased expression:cardiac ventricle RGD PMID:24525799 RGD:11353961 NCBI chr10:65,786,940...65,870,204
Ensembl chr10:68,289,288...68,401,045
JBrowse link
G HK2 hexokinase 2 ISO mRNA, protein:increased expression:cardiac ventricle RGD PMID:24525799 RGD:11353961 NCBI chr2A:74,897,914...74,957,234
Ensembl chr2A:76,400,240...76,460,874
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO mRNA:increased expression:kidney cortex, kidney medulla, liver (rat) RGD PMID:32416216 RGD:401793731 NCBI chr 9:96,351,645...96,356,761
Ensembl chr 9:124,865,211...124,870,458
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO mRNA, protein:increased expression:liver (rat) RGD PMID:32626927 RGD:401959337 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G IL1B interleukin 1 beta ISO mRNA, protein:increased expression:liver (rat) RGD PMID:32626927 RGD:401959337 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G LPL lipoprotein lipase treatment ISO RGD PMID:29968701 RGD:13793400 NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966
JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha ISO RGD PMID:24990154 RGD:11561988 NCBI chr20:30,887,345...30,888,986
Ensembl chr20:32,010,284...32,020,411
JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 ISO mRNA:increased expression:kidney, liver (rat) RGD PMID:32416216 RGD:401793731 NCBI chr20:53,901,738...53,907,090
Ensembl chr20:55,179,429...55,184,920
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO mRNA:increased expression:kidney cortex (rat)
protein:increased expression:liver (rat)
RGD PMID:32416216 PMID:32626927 RGD:401793731 RGD:401959337 NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
JBrowse link
G REN renin ISO mRNA:increased expression:kidney medulla (rat) RGD PMID:32416216 RGD:401793731 NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393
JBrowse link
G TLR4 toll like receptor 4 treatment ISO RGD PMID:32626927 RGD:401959337 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TNF tumor necrosis factor ISO mRNA, protein:increased expression:liver (rat) RGD PMID:32626927 RGD:401959337 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G VCAM1 vascular cell adhesion molecule 1 ISO mRNA, protein:increased expression:liver (rat) RGD PMID:32626927 RGD:401959337 NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732
JBrowse link
G VEGFA vascular endothelial growth factor A ISO mRNA:increased expression:kidney medulla (rat) RGD PMID:32416216 RGD:401793731 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
G VIM vimentin ISO mRNA:increased expression:kidney cortex, kidney medulla (rat) RGD PMID:32416216 RGD:401793731 NCBI chr10:17,546,389...17,554,702
Ensembl chr10:17,818,285...17,826,642
JBrowse link
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 chr17:9,589,253...9,596,973
Ensembl chr17:9,773,052...9,778,922
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            Brain Hypoxia 130
              Brain Hypoxia-Ischemia + 98
              Chronic Intermittent Hypoxia 31
paths to the root