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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;   RDO:0005159
For additional species annotation, visit the Alliance of Genome Resources.


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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 IEP RGD PMID:22230263 RGD:13703065 NCBI chr 2:188,661,831...188,672,337
Ensembl chr 2:188,661,699...188,672,247
JBrowse link
G Adam17 ADAM metallopeptidase domain 17 IEP RGD PMID:22230263 RGD:13703065 NCBI chr 6:43,400,525...43,448,280
Ensembl chr 6:43,400,528...43,448,280
JBrowse link
G Ep300 E1A binding protein p300 IEP mRNA, protein:increased expression:hippocampus (rat) RGD PMID:19103185 RGD:2311713 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Epo erythropoietin treatment ISO associated with Brain Injuries RGD PMID:21116766, PMID:24344874 RGD:10400899, RGD:10401067 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Epor erythropoietin receptor treatment IEP associated with Brain Injuries RGD PMID:24344874, PMID:21116766 RGD:10401067, RGD:10400899 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
JBrowse link
G Gjb6 gap junction protein, beta 6 IEP RGD PMID:20034754 RGD:7364784 NCBI chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
JBrowse link
G Gjd2 gap junction protein, delta 2 IEP RGD PMID:20034754 RGD:7364784 NCBI chr 3:105,467,480...105,470,475
Ensembl chr 3:105,467,480...105,470,475
JBrowse link
G Ireb2 iron responsive element binding protein 2 IEP protein:increased expression:periventricular white matter (rat) RGD PMID:22159112 RGD:6893269 NCBI chr 8:59,450,974...59,503,634
Ensembl chr 8:59,420,123...59,501,118
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO mRNA, protein:increased expression:cerebellum (mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:17285299, PMID:17285299 RGD:6482794 NCBI chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
JBrowse link
G Itpr2 inositol 1,4,5-trisphosphate receptor, type 2 ISO mRNA, protein:increased expression:cerebellum (mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:17285299, PMID:17285299 RGD:6482794 NCBI chr 4:180,423,452...180,800,088
Ensembl chr 4:180,538,389...180,722,358
JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:increased expression:caudate putamen (rat) RGD PMID:14980808 RGD:7794714 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Pam peptidylglycine alpha-amidating monooxygenase IEP protein:increased activity:brain stem (rat) RGD PMID:18818385 RGD:6483514 NCBI chr 9:111,028,543...111,177,588
Ensembl chr 9:111,028,575...111,177,602
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 IEP mRNA:increased expression:carotid body RGD PMID:24036592 RGD:11039031 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Agt angiotensinogen IEP mRNA, protein:increased expression:type I cell of carotid body RGD PMID:24036592 RGD:11039031 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:26769958 RGD:13792505 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IDA RGD PMID:26769958 RGD:13792505 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Becn1 beclin 1 IEP RGD PMID:24990154 RGD:11561988 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Bnip3 BCL2 interacting protein 3 IEP RGD PMID:24990154 RGD:11561988 NCBI chr 1:211,248,098...211,265,282
Ensembl chr 1:211,248,098...211,265,282
JBrowse link
G Fadd Fas associated via death domain treatment IEP RGD PMID:26769958 RGD:13792505 NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
JBrowse link
G Hk1 hexokinase 1 IEP mRNA, protein:increased expression:cardiac ventricle RGD PMID:24525799 RGD:11353961 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Hk2 hexokinase 2 IEP mRNA, protein:increased expression:cardiac ventricle RGD PMID:24525799 RGD:11353961 NCBI chr 4:113,559,396...113,609,897
Ensembl chr 4:113,559,427...113,610,243
JBrowse link
G Lpl lipoprotein lipase treatment IEP RGD PMID:29968701 RGD:13793400 NCBI chr16:22,537,687...22,561,487
Ensembl chr16:22,537,056...22,561,496
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha IEP RGD PMID:24990154 RGD:11561988 NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
JBrowse link
Hypoxia-Ischemia, Brain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp activity-dependent neuroprotector homeobox IDA RGD PMID:16938277 RGD:2312775 NCBI chr 3:164,937,188...164,964,819
Ensembl chr 3:164,937,198...164,964,702
JBrowse link
G Agtr2 angiotensin II receptor, type 2 IMP RGD PMID:22569153 RGD:6903872 NCBI chr  X:119,389,480...119,393,845
Ensembl chr  X:119,390,013...119,393,842
JBrowse link
G Aif1 allograft inflammatory factor 1 IEP protein:increased expression:right cerebral hemisphere (rat) RGD PMID:19447505 RGD:2313021 NCBI chr20:5,161,350...5,167,176
Ensembl chr20:5,161,333...5,166,448
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:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Arntl aryl hydrocarbon receptor nuclear translocator-like IEP protein:increased expression:pineal gland RGD PMID:23336172 RGD:10043348 NCBI chr 1:178,039,002...178,137,469
Ensembl chr 1:178,039,063...178,137,465
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:21189961, PMID:29635023 RGD:10054502, RGD:13782292 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bcan brevican IEP RGD PMID:15817274 RGD:14392799 NCBI chr 2:187,359,674...187,373,133
Ensembl chr 2:187,359,677...187,372,657
JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP RGD PMID:21189961, PMID:29635023 RGD:10054502, RGD:13782292 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Bcl2l1 Bcl2-like 1 IDA RGD PMID:24195677 RGD:10053669 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
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 chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Bmp4 bone morphogenetic protein 4 IEP mRNA,protein:decreased expression:brain: RGD PMID:23236544 RGD:8699519 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Casp1 caspase 1 IEP RGD PMID:23046993 RGD:13782359 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
JBrowse link
G Casp12 caspase 12 IDA protein:increased activity:cerebral cortex, hippocampus RGD PMID:18603371 RGD:2311455 NCBI chr 8:2,658,892...2,686,160
Ensembl chr 8:2,659,865...2,686,160
JBrowse link
G Casp3 caspase 3 treatment IDA
IEP
protein:increased activity:cerebral cortex, hippocampus RGD PMID:18603371, PMID:23046993, PMID:29635023, PMID:27216999, PMID:21189961 RGD:2311455, RGD:13782359, RGD:13782292, RGD:13782279, RGD:10054502 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp8 caspase 8 treatment IEP RGD PMID:29635023, PMID:23046993 RGD:13782292, RGD:13782359 NCBI chr 9:65,614,142...65,662,624
Ensembl chr 9:65,614,142...65,662,106
JBrowse link
G Casp9 caspase 9 IEP RGD PMID:23046993 RGD:13782359 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Cast calpastatin IEP RGD PMID:10318818 RGD:5683321 NCBI chr 2:1,452,111...1,561,669
Ensembl chr 2:1,452,116...1,561,464
JBrowse link
G Cat catalase treatment ISO RGD PMID:21978706 RGD:9068474 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:forebrain (rat) RGD PMID:9270493 RGD:8549543 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IEP mRNA, protein:increased expression:brain RGD PMID:18095591 RGD:4144890
G Ccr5 C-C motif chemokine receptor 5 IEP mRNA:increased expression:cerebral hemisphere (rat) RGD PMID:16516309 RGD:4890442 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cdk5r1 cyclin-dependent kinase 5 regulatory subunit 1 treatment IMP RGD PMID:25665755 RGD:13782373 NCBI chr10:67,862,054...67,863,255
Ensembl chr10:67,862,054...67,863,255
JBrowse link
G Clock clock circadian regulator IEP protein:increased expression:pineal gland RGD PMID:23336172 RGD:10043348 NCBI chr14:34,418,226...34,502,218
Ensembl chr14:34,446,616...34,502,218
JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase IEP RGD PMID:19747899 RGD:6483337 NCBI chr10:88,490,798...88,497,357
Ensembl chr10:88,490,798...88,497,356
JBrowse link
G Crp C-reactive protein ISO RGD PMID:20220110 RGD:9585994 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 IEP mRNA:increased expression:brain RGD PMID:17549754 RGD:2311381 NCBI chr  X:71,614,346...71,616,997
Ensembl chr  X:71,614,346...71,616,997
JBrowse link
G Daxx death-domain associated protein IMP RGD PMID:21843499 RGD:9587791 NCBI chr20:5,480,103...5,485,962
Ensembl chr20:5,480,103...5,485,926
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha IEP protein:decreased expression:brain: RGD PMID:23716065 RGD:9588620 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Egr1 early growth response 1 IEP mRNA:increased expression:forebrain (rat) RGD PMID:7684483 RGD:2289081 NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
JBrowse link
G Eif2s1 eukaryotic translation initiation factor 2 subunit alpha IDA RGD PMID:8092984 RGD:10395352 NCBI chr 6:102,048,372...102,073,041
Ensembl chr 6:102,048,372...102,073,041
JBrowse link
G Epha4 Eph receptor A4 IEP protein:increased expression:brain RGD PMID:21736568 RGD:5688765 NCBI chr 9:83,111,222...83,253,486
Ensembl chr 9:83,111,222...83,253,458
JBrowse link
G Epo erythropoietin treatment IEP
ISO
RGD PMID:24034924, PMID:22156696 RGD:10400911, RGD:10401072 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G Ero1a endoplasmic reticulum oxidoreductase 1 alpha IEP mRNA:increased expression:hippocampus RGD PMID:12694393 RGD:632668 NCBI chr15:19,619,947...19,655,381
Ensembl chr15:19,619,973...19,655,381
JBrowse link
G Fadd Fas associated via death domain treatment IEP RGD PMID:29635023 RGD:13782292 NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
JBrowse link
G Fas Fas cell surface death receptor IEP RGD PMID:21843499 RGD:9587791 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Foxo3 forkhead box O3 IEP protein:increased expression:cerebral cortex,nucleus: RGD PMID:24229603 RGD:10402203 NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
JBrowse link
G Ghr growth hormone receptor IEP protein:increased expression:brain RGD PMID:19524466 RGD:2315620 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 IEP mRNA:decreased expression:hippocampus (rat) RGD PMID:19761817 RGD:2325954 NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A IEP mRNA:decreased expression:hippocampus (rat) RGD PMID:19761817 RGD:2325954 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B IEP mRNA:decreased expression:hippocampus (rat) RGD PMID:19761817 RGD:2325954 NCBI chr 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
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 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Hdac3 histone deacetylase 3 IEP protein:decreased expression:brain: RGD PMID:23716065 RGD:9588620 NCBI chr18:31,073,057...31,094,347
Ensembl chr18:31,073,058...31,094,303
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment IEP
ISO
IDA
protein:increased expression:brain (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:23694759, PMID:18210138, PMID:19595151 RGD:9068873, RGD:9068901 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:25447631 RGD:10766440 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A IEP RGD PMID:22526757 RGD:7257595 NCBI chr20:4,875,834...4,881,751
Ensembl chr20:4,877,324...4,879,779
JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO
IDA
IEP
RGD PMID:11672597, PMID:23694759, PMID:19766709 RGD:8549456, RGD:12904932, RGD:10046049 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf2 insulin-like growth factor 2 disease_progression ISO RGD PMID:16787587 RGD:5510005 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 IEP RGD PMID:10709766 RGD:10402756 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:brain (rat) RGD PMID:23110519 RGD:7204438 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 severity ISO DNA:polymorphism: :174G>C(human) RGD PMID:22117975 RGD:12792241 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Irak1 interleukin-1 receptor-associated kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21925238 NCBI chr  X:156,716,469...156,726,367
Ensembl chr  X:156,716,604...156,725,977
JBrowse link
G Irak4 interleukin-1 receptor-associated kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21925238 NCBI chr 7:135,803,723...135,831,006
Ensembl chr 7:135,803,698...135,832,652
JBrowse link
G Ireb2 iron responsive element binding protein 2 IEP mRNA:increased expression:brain (rat) RGD PMID:27602087 RGD:12903962 NCBI chr 8:59,450,974...59,503,634
Ensembl chr 8:59,420,123...59,501,118
JBrowse link
G Kdr kinase insert domain receptor IMP RGD PMID:21277350 RGD:5684383 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha IEP RGD PMID:25919564 RGD:11558017 NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
JBrowse link
G Map2 microtubule-associated protein 2 IDA RGD PMID:21300124 RGD:6483088 NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 IEP RGD PMID:21843499 RGD:9587791 NCBI chr 1:15,412,603...15,613,752
Ensembl chr 1:15,412,603...15,613,746
JBrowse link
G Mapt microtubule-associated protein tau treatment IDA RGD PMID:25665755 RGD:13782373 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 IEP protein:increased expression:brain: RGD PMID:23716065 RGD:9588620 NCBI chr18:65,814,026...65,885,115
Ensembl chr18:65,814,026...65,885,114
JBrowse link
G Mbp myelin basic protein IEP protein:decreased expression:white matter: RGD PMID:23715956 RGD:7327196 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment IEP RGD PMID:21038694 RGD:8694100 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23694759 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 IEP mRNA:increased expression:brain RGD PMID:19633950 RGD:5684358 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Pdgfb platelet derived growth factor subunit B IEP RGD PMID:10215166 RGD:10449494 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Plat plasminogen activator, tissue type onset IEP RGD PMID:18467699 RGD:6483831 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
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 chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
G Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B IEP RGD PMID:23153068 RGD:13515077 NCBI chr10:86,303,727...86,312,770
Ensembl chr10:86,303,727...86,312,762
JBrowse link
G Ptpn5 protein tyrosine phosphatase, non-receptor type 5 IEP STEP33;protein:increased expression:forebrain (rat) RGD PMID:10537057 RGD:9835021 NCBI chr 1:103,197,918...103,258,309
Ensembl chr 1:103,197,915...103,256,823
JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z1 IEP RGD PMID:16041802 RGD:9590116 NCBI chr 4:49,941,046...50,140,764
Ensembl chr 4:49,941,304...50,140,762
JBrowse link
G Rnf146 ring finger protein 146 IEP RGD PMID:28108258 RGD:13524865 NCBI chr 1:30,856,923...30,873,814
Ensembl chr 1:30,863,217...30,873,808
JBrowse link
G S100b S100 calcium binding protein B severity ISO associated with Asphyxia Neonatorum;protein:increased expression:urine RGD PMID:14707571 RGD:5508819 NCBI chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
JBrowse link
G Serpine1 serpin family E member 1 ISO RGD PMID:19587273 RGD:2316117 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Slc9a1 solute carrier family 9 member A1 IMP RGD PMID:20883671 RGD:6771331 NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
JBrowse link
G Spi1 Spi-1 proto-oncogene IEP protein:increased expression:CA1 field of hippocampus RGD PMID:10713349 RGD:9586724 NCBI chr 3:79,918,127...79,937,708
Ensembl chr 3:79,918,969...79,938,301
JBrowse link
G Tert telomerase reverse transcriptase treatment IDA RGD PMID:21940960 RGD:11038672 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tf transferrin treatment ISO RGD PMID:22736466 RGD:7244383 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
JBrowse link
G Tfam transcription factor A, mitochondrial IEP mRNA:increased expression:cerebral cortex RGD PMID:18723421 RGD:2302400 NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link
G Tlr2 toll-like receptor 2 ISO RGD PMID:28139935 RGD:15090829 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:23694759 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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
ClinVar Annotator: match by term: Pyridoxal 5'-phosphate-dependent epilepsy
ClinVar Annotator: match by OMIM:610090
OMIM
ClinVar
PMID:12200739, PMID:15772097, PMID:18024216, PMID:18485777, PMID:20370816, PMID:21292558, PMID:22858719, PMID:23419474, PMID:24266778, PMID:24645144, PMID:24658933, PMID:24781210, PMID:25256445, PMID:25741868, PMID:25762494, PMID:26467025, PMID:27781031, PMID:28349276, PMID:28492532, PMID:28985901, PMID:30311386 NCBI chr10:84,874,926...84,881,190
Ensembl chr10:84,874,927...84,881,190
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            Brain Hypoxia 96
              Chronic Intermittent Hypoxia 11
              Hypoxia-Ischemia, Brain + 80
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.