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Pathways

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 chr 8:128,016,589...128,056,193
Ensembl chr 8:128,016,526...128,048,171
JBrowse link
G Ada adenosine deaminase IEP protein:increased activity:brain: RGD PMID:25720338 RGD:152995398 NCBI chr 3:172,818,174...172,842,283
Ensembl chr 3:172,818,176...172,842,293
JBrowse link
G Adk adenosine kinase IEP protein:decreased expression:brain: RGD PMID:25720338 RGD:152995398 NCBI chr15:2,912,543...3,295,745
Ensembl chr15:2,912,544...3,295,745
JBrowse link
G Adnp activity-dependent neuroprotector homeobox IDA RGD PMID:16938277 RGD:2312775 NCBI chr 3:177,310,258...177,340,379
Ensembl chr 3:177,310,258...177,336,188
JBrowse link
G Adora1 adenosine A1 receptor IEP protein:decreased expression:brain: RGD PMID:25720338 RGD:152995398 NCBI chr13:48,210,922...48,247,826
Ensembl chr13:48,213,273...48,247,190
JBrowse link
G Agtr2 angiotensin II receptor, type 2 IMP RGD PMID:22569153 RGD:6903872 NCBI chr  X:116,914,320...116,918,504
Ensembl chr  X:116,913,656...116,918,745
JBrowse link
G Aif1 allograft inflammatory factor 1 IEP protein:increased expression:right cerebral hemisphere (rat) RGD PMID:19447505 RGD:2313021 NCBI chr20:3,651,435...3,657,341
Ensembl chr20:3,652,243...3,657,339
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 IEP protein:increased expression:nucleus: RGD PMID:12871572 PMID:28108258 RGD:10053564, RGD:13524865 NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:132,528,107...132,567,237
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:21189961 PMID:29635023 PMID:24089674 RGD:10054502, RGD:13782292, RGD:155882465 NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:105,076,473...105,086,429
JBrowse link
G Bcan brevican IEP RGD PMID:15817274 RGD:14392799 NCBI chr 2:175,752,333...175,765,766
Ensembl chr 2:175,752,336...175,765,314
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:21189961 PMID:29635023 PMID:24089674 RGD:10054502, RGD:13782292, RGD:155882465 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:23,204,464...23,366,900
JBrowse link
G Bcl2l1 Bcl2-like 1 IDA RGD PMID:24195677 RGD:10053669 NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:161,745,540...161,764,907
Ensembl chr 1:161,745,540...161,764,907
JBrowse link
G Becn1 beclin 1 IEP protein:increased expression:cerebral cortex
protein:increased expression:brain
RGD PMID:22449108 PMID:25919564 RGD:6483050, RGD:11558017 NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,731,650...86,747,002
JBrowse link
G Bmal1 basic helix-loop-helix ARNT like 1 IEP protein:increased expression:pineal gland RGD PMID:23336172 RGD:10043348 NCBI chr 1:176,766,222...176,864,741
Ensembl chr 1:176,829,305...176,864,739
JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP mRNA,protein:decreased expression:brain: RGD PMID:23236544 RGD:8699519 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172
JBrowse link
G Casp1 caspase 1 IEP RGD PMID:23046993 RGD:13782359 NCBI chr 8:10,746,338...10,882,295
Ensembl chr 8:10,746,333...10,882,275
JBrowse link
G Casp12 caspase 12 IDA protein:increased activity:cerebral cortex, hippocampus RGD PMID:18603371 RGD:2311455 NCBI chr 8:10,927,188...10,954,442
Ensembl chr 8:10,926,994...10,954,442
JBrowse link
G Casp3 caspase 3 treatment IDA
IEP
protein:increased activity:cerebral cortex, hippocampus RGD PMID:18603371 PMID:21189961 PMID:27216999 PMID:29635023 PMID:23046993 More... RGD:2311455, RGD:10054502, RGD:13782279, RGD:13782292, RGD:13782359, RGD:155882465 NCBI chr16:52,395,539...52,413,794
Ensembl chr16:52,395,540...52,413,732
JBrowse link
G Casp8 caspase 8 treatment IEP RGD PMID:29635023 PMID:23046993 RGD:13782292, RGD:13782359 NCBI chr 9:67,747,109...67,806,699
Ensembl chr 9:67,758,033...67,806,699
JBrowse link
G Casp9 caspase 9 treatment IEP RGD PMID:23046993 PMID:24089674 RGD:13782359, RGD:155882465 Ensembl chr 5:159,391,188...159,409,648 JBrowse link
G Cast calpastatin IEP RGD PMID:10318818 RGD:5683321 NCBI chr 2:5,707,633...5,817,213
Ensembl chr 2:5,707,640...5,817,180
JBrowse link
G Cat catalase treatment ISO RGD PMID:21978706 RGD:9068474 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:110,297,342...110,329,526
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:forebrain (rat) RGD PMID:9270493 RGD:8549543 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IEP mRNA, protein:increased expression:brain RGD PMID:18095591 RGD:4144890 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:132,611,410...132,620,059
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 IEP mRNA:increased expression:cerebral hemisphere (rat) RGD PMID:16516309 RGD:4890442 NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:132,629,683...132,637,594
JBrowse link
G Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 treatment IMP RGD PMID:25665755 RGD:13782373 NCBI chr10:65,981,692...65,985,831
Ensembl chr10:65,978,911...65,989,272
JBrowse link
G Clock clock circadian regulator IEP protein:increased expression:pineal gland RGD PMID:23336172 RGD:10043348 NCBI chr14:32,262,747...32,346,872
Ensembl chr14:32,262,750...32,346,872
JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase IEP RGD PMID:19747899 RGD:6483337 NCBI chr10:86,011,504...86,018,063
Ensembl chr10:86,011,495...86,018,063
JBrowse link
G Crp C-reactive protein ISO RGD PMID:20220110 RGD:9585994 NCBI chr13:87,694,062...87,695,978
Ensembl chr13:87,657,317...87,707,514
JBrowse link
G Cs citrate synthase treatment IDA RGD PMID:15132986 PMID:15569775 RGD:243048479, RGD:243048481 NCBI chr 7:1,348,389...1,374,624
Ensembl chr 7:1,342,942...1,375,938
JBrowse link
G Csf1r colony stimulating factor 1 receptor exacerbates IMP
IEP
protein:increased expression:right cerebral hemisphere, astrocyte, neuron (rat) RGD PMID:32522286 PMID:33101590 RGD:151665765, RGD:151665766 NCBI chr18:56,834,152...56,860,804
Ensembl chr18:56,817,049...56,860,806
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 IEP mRNA:increased expression:brain RGD PMID:17549754 RGD:2311381 NCBI chr  X:70,884,293...70,886,944
Ensembl chr  X:70,883,958...70,886,871
JBrowse link
G Daxx death-domain associated protein IMP RGD PMID:21843499 RGD:9587791 NCBI chr20:4,971,973...4,978,062
Ensembl chr20:4,971,941...4,977,720
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha IEP protein:decreased expression:brain: RGD PMID:23716065 RGD:9588620 NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:32,512,070...32,614,970
JBrowse link
G Egr1 early growth response 1 IEP mRNA:increased expression:forebrain (rat) RGD PMID:7684483 RGD:2289081 NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,736,838...26,740,843
JBrowse link
G Eif2s1 eukaryotic translation initiation factor 2 subunit alpha IDA RGD PMID:8092984 RGD:10395352 NCBI chr 6:103,405,880...103,430,549
Ensembl chr 6:103,405,788...103,431,649
JBrowse link
G Epha4 Eph receptor A4 IEP protein:increased expression:brain RGD PMID:21736568 RGD:5688765 NCBI chr 9:86,263,982...86,406,744
Ensembl chr 9:86,263,982...86,406,755
JBrowse link
G Epo erythropoietin treatment IEP
ISO
RGD PMID:24034924 PMID:22156696 RGD:10400911, RGD:10401072 NCBI chr12:24,841,285...24,844,725
Ensembl chr12:24,841,285...24,844,725
JBrowse link
G Ero1a endoplasmic reticulum oxidoreductase 1 alpha IEP mRNA:increased expression:hippocampus RGD PMID:12694393 RGD:632668 NCBI chr15:20,974,771...21,010,170
Ensembl chr15:20,972,679...21,018,039
JBrowse link
G Fadd Fas associated via death domain treatment IEP RGD PMID:29635023 RGD:13782292 NCBI chr 1:209,169,245...209,175,423
Ensembl chr 1:209,169,318...209,174,976
JBrowse link
G Fas Fas cell surface death receptor IEP RGD PMID:21843499 RGD:9587791 NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:241,205,935...241,246,104
JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit IEP protein:decreased expression:hippocampus RGD PMID:25262910 RGD:405650622 NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:110,852,190...110,855,598
JBrowse link
G Foxo3 forkhead box O3 IEP protein:increased expression:cerebral cortex,nucleus: RGD PMID:24229603 RGD:10402203 NCBI chr20:47,251,968...47,348,254
Ensembl chr20:47,255,878...47,346,845
JBrowse link
G Fst follistatin IEP mRNA:decreased expression:brain (rat) RGD PMID:10415398 RGD:329322882 NCBI chr 2:47,856,345...47,863,670
Ensembl chr 2:47,856,345...47,863,491
JBrowse link
G Ghr growth hormone receptor IEP protein:increased expression:brain RGD PMID:19524466 RGD:2315620 NCBI chr 2:54,269,066...54,532,595
Ensembl chr 2:54,270,206...54,532,331
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 IEP mRNA:decreased expression:hippocampus (rat) RGD PMID:19761817 RGD:2325954 NCBI chr 3:28,501,836...28,528,754
Ensembl chr 3:28,501,836...28,528,754
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A IEP mRNA:decreased expression:hippocampus (rat) RGD PMID:19761817 RGD:2325954 NCBI chr10:6,136,458...6,560,003
Ensembl chr10:6,138,037...6,551,378
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B IEP mRNA:decreased expression:hippocampus (rat) RGD PMID:19761817 RGD:2325954 NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:170,322,617...170,773,570
JBrowse link
G Gsn gelsolin severity ISO protein:decreased expression:blood plasma (human) RGD PMID:29466895 RGD:329333029 NCBI chr 3:38,982,605...39,035,849
Ensembl chr 3:38,982,671...39,035,850
JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 IEP mRNA:decreased expression:hippocampus,cortex: RGD PMID:19892002 RGD:9686395 NCBI chr 2:51,228,710...51,632,806
Ensembl chr 2:51,228,710...51,632,806
JBrowse link
G Hdac3 histone deacetylase 3 IEP protein:decreased expression:brain: RGD PMID:23716065 RGD:9588620 NCBI chr18:30,021,847...30,041,061
Ensembl chr18:30,021,941...30,041,025
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment IEP
IDA
ISO
protein:increased expression:brain (rat)
CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:brain,kidney (rat)
CTD
RGD
PMID:23694759 PMID:18210138 PMID:19595151 PMID:31784544 RGD:9068873, RGD:9068901, RGD:155882534 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:98,359,910...98,405,323
JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:25447631 RGD:10766440 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A IEP RGD PMID:22526757 RGD:7257595 NCBI chr20:3,875,411...3,877,866
Ensembl chr20:3,855,780...3,877,979
JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B IMP RGD PMID:16397188 RGD:1626654 NCBI chr20:3,859,756...3,863,800
Ensembl chr20:3,855,780...3,877,979
JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO
IEP
IDA
RGD PMID:11672597 PMID:19766709 PMID:23694759 RGD:8549456, RGD:10046049, RGD:12904932 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764
JBrowse link
G Igf2 insulin-like growth factor 2 disease_progression ISO RGD PMID:16787587 RGD:5510005 NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:207,243,873...207,260,667
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 IEP RGD PMID:10709766 RGD:10402756 NCBI chr14:86,270,208...86,277,944
Ensembl chr14:86,270,208...86,277,944
JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:brain (rat) RGD PMID:23110519 RGD:7204438 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601
JBrowse link
G Il6 interleukin 6 severity ISO DNA:polymorphism: :174G>C(human) RGD PMID:22117975 RGD:12792241 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610
JBrowse link
G Inhba inhibin subunit beta A treatment
severity
IEP
ISO
mRNA:increased expression:brain (rat)
human construct in rat model
mRNA, protein:increased expression:umbilical cord blood (human)
RGD PMID:10415398 PMID:10415398 PMID:27957679 RGD:329322882, RGD:329322882, RGD:329849106 NCBI chr17:53,787,159...53,810,942
Ensembl chr17:53,791,444...53,804,508
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21925238 NCBI chr  X:156,919,927...156,929,825
Ensembl chr  X:156,920,081...156,929,825
JBrowse link
G Irak4 interleukin-1 receptor-associated kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21925238 NCBI chr 7:127,561,777...127,588,762
Ensembl chr 7:127,561,717...127,597,109
JBrowse link
G Ireb2 iron responsive element binding protein 2 IEP mRNA:increased expression:brain (rat) RGD PMID:27602087 RGD:12903962 NCBI chr 8:64,124,152...64,207,702
Ensembl chr 8:64,154,945...64,205,520
JBrowse link
G Kdr kinase insert domain receptor IMP RGD PMID:21277350 RGD:5684383 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha IEP RGD PMID:25919564 RGD:11558017 NCBI chr 3:164,243,204...164,244,850
Ensembl chr 3:164,243,093...164,244,850
JBrowse link
G Map2 microtubule-associated protein 2 IDA RGD PMID:21300124 RGD:6483088 NCBI chr 9:75,173,038...75,431,606
Ensembl chr 9:75,288,262...75,428,459
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 IEP RGD PMID:21843499 RGD:9587791 NCBI chr 1:16,505,387...16,723,899
Ensembl chr 1:16,505,596...16,723,898
JBrowse link
G Map3k7 mitogen activated protein kinase kinase kinase 7 ameliorates ISO
IEP
protein:increased expression:brain (rat) RGD PMID:29138854 PMID:32734729 RGD:155804273, RGD:155804275 NCBI chr 5:51,149,524...51,212,012
Ensembl chr 5:51,154,352...51,212,012
JBrowse link
G Mapt microtubule-associated protein tau treatment IDA RGD PMID:25665755 RGD:13782373 NCBI chr10:89,638,618...89,736,108
Ensembl chr10:89,638,599...89,736,108
JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 IEP protein:increased expression:brain: RGD PMID:23716065 RGD:9588620 NCBI chr18:66,449,196...66,516,112
Ensembl chr18:66,449,358...66,516,111
JBrowse link
G Mbp myelin basic protein IEP protein:decreased expression:white matter: RGD PMID:23715956 RGD:7327196 NCBI chr18:78,130,652...78,241,174
Ensembl chr18:78,130,325...78,241,174
JBrowse link
G Mir140 microRNA 140 severity ISO miRNA:decreased expression:blood serum (human) RGD PMID:34331407 RGD:329347831 NCBI chr19:52,375,293...52,375,391
Ensembl chr19:52,375,293...52,375,391
JBrowse link
G Mir17 microRNA 17 ISO RGD PMID:35085690 RGD:329349305 NCBI chr15:98,587,848...98,587,931
Ensembl chr15:98,587,848...98,587,931
JBrowse link
G Mir210 microRNA 210 treatment
disease_progression
IMP
ISO
associated with Brain Injuries;miRNA:increased expression:brain, cerebral hemisphere (human)
miRNA:decreased expression:blood serum (human)
RGD PMID:26875527 PMID:33402183 PMID:29568675 PMID:24089674 RGD:11572290, RGD:155582222, RGD:155598592, RGD:155882465 NCBI chr 1:205,755,923...205,756,032
Ensembl chr 1:205,755,917...205,756,034
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment IEP RGD PMID:21038694 RGD:8694100 NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:12,925,280...12,938,826
JBrowse link
G Mpo myeloperoxidase IEP protein:increased activity:brain: RGD PMID:25720338 RGD:152995398 NCBI chr10:73,092,124...73,102,057
Ensembl chr10:73,092,400...73,102,056
JBrowse link
G Naglu N-acetyl-alpha-glucosaminidase IEP protein:increased activity:brain: RGD PMID:25720338 RGD:152995398 NCBI chr10:86,501,864...86,509,333
Ensembl chr10:86,501,836...86,509,315
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23694759 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:64,313,335...64,401,880
JBrowse link
G Nrf1 nuclear respiratory factor 1 IEP mRNA, protein:increase expression:cerebral cortex RGD PMID:18723421 RGD:2302400 NCBI chr 4:59,632,366...59,738,166
Ensembl chr 4:59,632,372...59,738,353
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 IEP mRNA:increased expression:brain RGD PMID:19633950 RGD:5684358 NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:175,534,844...175,551,787
JBrowse link
G Pdgfb platelet derived growth factor subunit B IEP RGD PMID:10215166 RGD:10449494 NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:113,420,710...113,438,343
JBrowse link
G Plat plasminogen activator, tissue type onset IEP RGD PMID:18467699 RGD:6483831 NCBI chr16:75,943,061...76,022,037
Ensembl chr16:75,943,064...75,967,696
JBrowse link
G Plau plasminogen activator, urokinase IDA
IEP
mRNA, protein:increased expression, increased activity:hippocampus (rat) RGD PMID:19587273 PMID:18467699 RGD:2316117, RGD:6483831 NCBI chr15:3,505,485...3,511,987
Ensembl chr15:3,505,487...3,512,030
JBrowse link
G Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B IEP RGD PMID:23153068 RGD:13515077 NCBI chr10:83,843,948...83,853,063
Ensembl chr10:83,844,036...83,853,063
JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit treatment IMP RGD PMID:30485360 RGD:39938998 NCBI chr11:98,544,952...98,762,499
Ensembl chr11:98,544,954...98,762,108
JBrowse link
G Prkdcem1Sage protein kinase, DNA-activated, catalytic subunit; ZFN induced mutant 1, Sage treatment IMP RGD PMID:30485360 RGD:39938998
G Ptpn5 protein tyrosine phosphatase, non-receptor type 5 IEP STEP33;protein:increased expression:forebrain (rat) RGD PMID:10537057 RGD:9835021 NCBI chr 1:106,756,896...106,817,369
Ensembl chr 1:106,756,896...106,816,828
JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z1 IEP RGD PMID:16041802 RGD:9590116 NCBI chr 4:52,363,006...52,560,905
Ensembl chr 4:52,363,295...52,560,903
JBrowse link
G Rnf146 ring finger protein 146 IEP RGD PMID:28108258 RGD:13524865 NCBI chr 1:28,458,864...28,475,758
Ensembl chr 1:30,287,511...30,304,361
JBrowse link
G Robo1 roundabout guidance receptor 1 exacerbates IMP RGD PMID:31356825 RGD:242905191 NCBI chr11:24,067,869...25,108,694
Ensembl chr11:24,067,878...25,108,694
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:5508819, RGD:155598592 NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,348...12,381,081
JBrowse link
G Serpine1 serpin family E member 1 ISO RGD PMID:19587273 RGD:2316117 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357
JBrowse link
G Slc9a1 solute carrier family 9 member A1 IMP RGD PMID:20883671 RGD:6771331 NCBI chr 5:150,859,412...150,913,525
Ensembl chr 5:150,860,228...150,913,517
JBrowse link
G Slit2 slit guidance ligand 2 treatment IEP RGD PMID:31356825 RGD:242905191 NCBI chr14:66,829,661...67,168,517
Ensembl chr14:66,829,661...67,167,146
JBrowse link
G Spi1 Spi-1 proto-oncogene IEP protein:increased expression:CA1 field of hippocampus RGD PMID:10713349 RGD:9586724 NCBI chr 3:97,529,509...97,548,204
Ensembl chr 3:97,527,572...97,549,540
JBrowse link
G Srgap1 SLIT-ROBO Rho GTPase activating protein 1 exacerbates IMP RGD PMID:31356825 RGD:242905191 NCBI chr 7:59,215,007...59,479,600
Ensembl chr 7:59,215,007...59,656,213
JBrowse link
G Tert telomerase reverse transcriptase treatment IDA RGD PMID:21940960 RGD:11038672 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111
JBrowse link
G Tf transferrin treatment ISO RGD PMID:22736466 RGD:7244383 NCBI chr 8:112,668,667...112,695,376
Ensembl chr 8:112,647,642...112,695,400
JBrowse link
G Tfam transcription factor A, mitochondrial IEP mRNA:increased expression:cerebral cortex RGD PMID:18723421 RGD:2302400 NCBI chr20:17,355,373...17,367,422
Ensembl chr20:17,355,363...17,369,877
JBrowse link
G Tlr2 toll-like receptor 2 ISO
IEP
mRNA, protein:increased expression:brain
protein:increased expression:hippocampus
RGD PMID:28139935 PMID:26475712 PMID:25530127 RGD:15090829, RGD:11353246, RGD:11096611 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194
JBrowse link
G Tlr4 toll-like receptor 4 IEP protein:increased expression:hippocampus RGD PMID:25530127 RGD:11096611 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 IEP mRNA:increased expression:glomerular podocytes (rat) RGD PMID:31784544 RGD:155882534 NCBI chr 8:14,044,216...14,148,808
Ensembl chr 8:14,043,877...14,149,304
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23694759 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 IEP
IMP
mRNA:increased expression:glomerular podocytes (rat) RGD PMID:31784544 PMID:34852714 RGD:155882534, RGD:155882542 NCBI chr 3:49,624,028...49,754,323
Ensembl chr 3:49,624,028...49,754,323
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:15182361 PMID:15772097 PMID:16199547 PMID:17216302 More... NCBI chr10:81,924,584...81,930,844
Ensembl chr10:82,421,027...82,427,288
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Pathologic Processes 8430
        ischemia 1506
          brain ischemia 648
            Brain Hypoxia-Ischemia 107
              pyridoxamine 5'-phosphate oxidase deficiency 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            cerebrovascular disease 1005
              brain ischemia 648
                Brain Hypoxia-Ischemia 107
                  pyridoxamine 5'-phosphate oxidase deficiency 1
paths to the root