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
Accession: DOID:9004756
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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Adam15
ADAM metallopeptidase domain 15
IEP
RGD
PMID:22230263
RGD:13703065
NCBI chr 2:174,754,629...174,765,136
Ensembl chr 2:174,754,633...174,765,113
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Adam17
ADAM metallopeptidase domain 17
IEP
RGD
PMID:22230263
RGD:13703065
NCBI chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639
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Ep300
E1A binding protein p300
IEP
mRNA, protein:increased expression:hippocampus (rat)
RGD
PMID:19103185
RGD:2311713
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Epo
erythropoietin
treatment
ISO
associated with Brain Injuries
RGD
PMID:21116766 PMID:24344874
RGD:10400899 , RGD:10401067
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Epor
erythropoietin receptor
treatment
IEP
associated with Brain Injuries
RGD
PMID:24344874 PMID:21116766
RGD:10401067 , RGD:10400899
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
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Gjb6
gap junction protein, beta 6
IEP
RGD
PMID:20034754
RGD:7364784
NCBI chr15:31,284,561...31,294,552
Ensembl chr15:31,284,419...31,294,582
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Gjd2
gap junction protein, delta 2
IEP
RGD
PMID:20034754
RGD:7364784
NCBI chr 3:100,771,450...100,776,134
Ensembl chr 3:100,772,062...100,775,061
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Ireb2
iron responsive element binding protein 2
IEP
protein:increased expression:periventricular white matter (rat)
RGD
PMID:22159112
RGD:6893269
NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611
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Itpr1
inositol 1,4,5-trisphosphate receptor, type 1
ISO
mRNA, protein:increased expression:cerebellum (mouse) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17285299 PMID:17285299
RGD:6482794
NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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Itpr2
inositol 1,4,5-trisphosphate receptor, type 2
ISO
mRNA, protein:increased expression:cerebellum (mouse) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17285299 PMID:17285299
RGD:6482794
NCBI chr 4:179,028,594...179,434,657
Ensembl chr 4:179,027,281...179,404,164
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Nos3
nitric oxide synthase 3
IEP
protein:increased expression:caudate putamen (rat)
RGD
PMID:14980808
RGD:7794714
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Pam
peptidylglycine alpha-amidating monooxygenase
IEP
protein:increased activity:brain stem (rat)
RGD
PMID:18818385
RGD:6483514
NCBI chr 9:97,998,581...98,271,966
Ensembl chr 9:98,122,916...98,271,965
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Acvr2b
activin A receptor type 2B
severity
ISO
mRNA, protein:increased expression:umbilical cord blood (human)
RGD
PMID:27957679
RGD:329849106
NCBI chr 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458
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Ada
adenosine deaminase
IEP
protein:increased activity:brain:
RGD
PMID:25720338
RGD:152995398
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Adk
adenosine kinase
IEP
protein:decreased expression:brain:
RGD
PMID:25720338
RGD:152995398
NCBI chr15:2,863,241...3,246,453
Ensembl chr15:2,863,244...3,246,510
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Adnp
activity-dependent neuroprotector homeobox
IDA
RGD
PMID:16938277
RGD:2312775
NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312
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Adora1
adenosine A1 receptor
IEP
protein:decreased expression:brain:
RGD
PMID:25720338
RGD:152995398
NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801
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Agtr2
angiotensin II receptor, type 2
IMP
RGD
PMID:22569153
RGD:6903872
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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Aif1
allograft inflammatory factor 1
IEP
protein:increased expression:right cerebral hemisphere (rat)
RGD
PMID:19447505
RGD:2313021
NCBI chr20:3,646,784...3,652,670
Ensembl chr20:3,646,777...3,652,668
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Aifm1
apoptosis inducing factor, mitochondria associated 1
IEP
protein:increased expression:nucleus:
RGD
PMID:12871572 PMID:28108258
RGD:10053564 , RGD:13524865
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
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Bax
BCL2 associated X, apoptosis regulator
treatment
IEP
RGD
PMID:21189961 PMID:29635023 PMID:24089674
RGD:10054502 , RGD:13782292 , RGD:155882465
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bcan
brevican
IEP
RGD
PMID:15817274
RGD:14392799
NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460
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Bcl2
BCL2, apoptosis regulator
treatment
IEP
RGD
PMID:21189961 PMID:29635023 PMID:24089674
RGD:10054502 , RGD:13782292 , RGD:155882465
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcl2l1
Bcl2-like 1
IDA
RGD
PMID:24195677
RGD:10053669
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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Becn1
beclin 1
IEP
protein:increased expression:cerebral cortex protein:increased expression:brain
RGD
PMID:22449108 PMID:25919564
RGD:6483050 , RGD:11558017
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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Bmal1
basic helix-loop-helix ARNT like 1
IEP
protein:increased expression:pineal gland
RGD
PMID:23336172
RGD:10043348
NCBI chr 1:167,331,756...167,430,235
Ensembl chr 1:167,331,633...167,430,231
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Bmp4
bone morphogenetic protein 4
IEP
mRNA,protein:decreased expression:brain:
RGD
PMID:23236544
RGD:8699519
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Casp1
caspase 1
IEP
RGD
PMID:23046993
RGD:13782359
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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Casp12
caspase 12
IDA
protein:increased activity:cerebral cortex, hippocampus
RGD
PMID:18603371
RGD:2311455
NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
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Casp3
caspase 3
treatment
IDA IEP
protein:increased activity:cerebral cortex, hippocampus
RGD
PMID:18603371 PMID:21189961 PMID:27216999 PMID:29635023 PMID:23046993 PMID:24089674 More...
RGD:2311455 , RGD:10054502 , RGD:13782279 , RGD:13782292 , RGD:13782359 , RGD:155882465
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Casp8
caspase 8
treatment
IEP
RGD
PMID:29635023 PMID:23046993
RGD:13782292 , RGD:13782359
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Casp9
caspase 9
treatment
IEP
RGD
PMID:23046993 PMID:24089674
RGD:13782359 , RGD:155882465
NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
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Cast
calpastatin
IEP
RGD
PMID:10318818
RGD:5683321
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
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Cat
catalase
treatment
ISO
RGD
PMID:21978706
RGD:9068474
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Ccl2
C-C motif chemokine ligand 2
IEP
protein:increased expression:forebrain (rat)
RGD
PMID:9270493
RGD:8549543
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccr2
C-C motif chemokine receptor 2
IEP
mRNA, protein:increased expression:brain
RGD
PMID:18095591
RGD:4144890
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
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Ccr5
C-C motif chemokine receptor 5
IEP
mRNA:increased expression:cerebral hemisphere (rat)
RGD
PMID:16516309
RGD:4890442
NCBI chr 8:123,752,423...123,757,538
Ensembl chr 8:123,752,325...123,759,260
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Cdk5r1
cyclin-dependent kinase 5 regulatory subunit 1
treatment
IMP
RGD
PMID:25665755
RGD:13782373
NCBI chr10:65,484,266...65,485,467
Ensembl chr10:65,483,941...65,488,456
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Clock
clock circadian regulator
IEP
protein:increased expression:pineal gland
RGD
PMID:23336172
RGD:10043348
NCBI chr14:31,908,542...31,992,673
Ensembl chr14:31,908,566...31,990,400
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Cnp
2',3'-cyclic nucleotide 3' phosphodiesterase
IEP
RGD
PMID:19747899
RGD:6483337
NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720
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Crp
C-reactive protein
ISO
RGD
PMID:20220110
RGD:9585994
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Cs
citrate synthase
treatment
IDA
RGD
PMID:15132986 PMID:15569775
RGD:243048479 , RGD:243048481
NCBI chr 7:758,074...791,421
Ensembl chr 7:758,345...791,421
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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 chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Cxcr3
C-X-C motif chemokine receptor 3
IEP
mRNA:increased expression:brain
RGD
PMID:17549754
RGD:2311381
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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Daxx
death-domain associated protein
IMP
RGD
PMID:21843499
RGD:9587791
NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
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Dnmt3a
DNA methyltransferase 3 alpha
IEP
protein:decreased expression:brain:
RGD
PMID:23716065
RGD:9588620
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Egr1
early growth response 1
IEP
mRNA:increased expression:forebrain (rat)
RGD
PMID:7684483
RGD:2289081
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Eif2s1
eukaryotic translation initiation factor 2 subunit alpha
IDA
RGD
PMID:8092984
RGD:10395352
NCBI chr 6:97,672,829...97,697,499
Ensembl chr 6:97,672,766...97,706,225
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Epha4
Eph receptor A4
IEP
protein:increased expression:brain
RGD
PMID:21736568
RGD:5688765
NCBI chr 9:78,815,460...78,958,139
Ensembl chr 9:78,815,460...78,958,139
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Epo
erythropoietin
treatment
IEP ISO
RGD
PMID:24034924 PMID:22156696
RGD:10400911 , RGD:10401072
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Ero1a
endoplasmic reticulum oxidoreductase 1 alpha
IEP
mRNA:increased expression:hippocampus
RGD
PMID:12694393
RGD:632668
NCBI chr15:18,495,037...18,530,440
Ensembl chr15:18,492,945...18,530,478
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Fadd
Fas associated via death domain
treatment
IEP
RGD
PMID:29635023
RGD:13782292
NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
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Fas
Fas cell surface death receptor
IEP
RGD
PMID:21843499
RGD:9587791
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
IEP
protein:decreased expression:hippocampus
RGD
PMID:25262910
RGD:405650622
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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Foxo3
forkhead box O3
IEP
protein:increased expression:cerebral cortex,nucleus:
RGD
PMID:24229603
RGD:10402203
NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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Fst
follistatin
IEP
mRNA:decreased expression:brain (rat)
RGD
PMID:10415398
RGD:329322882
NCBI chr 2:46,123,260...46,130,584
Ensembl chr 2:46,123,439...46,130,571
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Ghr
growth hormone receptor
IEP
protein:increased expression:brain
RGD
PMID:19524466
RGD:2315620
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
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Grin1
glutamate ionotropic receptor NMDA type subunit 1
IEP
mRNA:decreased expression:hippocampus (rat)
RGD
PMID:19761817
RGD:2325954
NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
IEP
mRNA:decreased expression:hippocampus (rat)
RGD
PMID:19761817
RGD:2325954
NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637
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Grin2b
glutamate ionotropic receptor NMDA type subunit 2B
IEP
mRNA:decreased expression:hippocampus (rat)
RGD
PMID:19761817
RGD:2325954
NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
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Gsn
gelsolin
severity
ISO
protein:decreased expression:blood plasma (human)
RGD
PMID:29466895
RGD:329333029
NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
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Hcn1
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1
IEP
mRNA:decreased expression:hippocampus,cortex:
RGD
PMID:19892002
RGD:9686395
NCBI chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774
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Hdac3
histone deacetylase 3
IEP
protein:decreased expression:brain:
RGD
PMID:23716065
RGD:9588620
NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
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Hif1a
hypoxia inducible factor 1 subunit alpha
treatment
IEP ISO IDA
protein:increased expression:brain (rat) mRNA, protein:increased expression:brain,kidney (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23694759 PMID:18210138 PMID:31784544 PMID:19595151
RGD:9068873 , RGD:155882534 , RGD:9068901
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Hmox1
heme oxygenase 1
treatment
IEP
RGD
PMID:25447631
RGD:10766440
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Hspa1a
heat shock protein family A (Hsp70) member 1A
IEP
RGD
PMID:22526757
RGD:7257595
NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
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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 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igf2
insulin-like growth factor 2
disease_progression
ISO
RGD
PMID:16787587
RGD:5510005
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Igfbp3
insulin-like growth factor binding protein 3
IEP
RGD
PMID:10709766
RGD:10402756
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Il1b
interleukin 1 beta
IEP
protein:increased expression:brain (rat)
RGD
PMID:23110519
RGD:7204438
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il6
interleukin 6
severity
ISO
DNA:polymorphism: :174G>C(human)
RGD
PMID:22117975
RGD:12792241
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Inhba
inhibin subunit beta A
severity treatment
IEP ISO
mRNA:increased expression:brain (rat) mRNA, protein:increased expression:umbilical cord blood (human) human construct in rat model
RGD
PMID:10415398 PMID:27957679 PMID:10415398
RGD:329322882 , RGD:329849106 , RGD:329322882
NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982
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Irak1
interleukin-1 receptor-associated kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21925238
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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Irak4
interleukin-1 receptor-associated kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21925238
NCBI chr 7:125,682,502...125,708,294
Ensembl chr 7:125,682,488...125,717,837
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Ireb2
iron responsive element binding protein 2
IEP
mRNA:increased expression:brain (rat)
RGD
PMID:27602087
RGD:12903962
NCBI chr 8:55,228,080...55,311,613
Ensembl chr 8:55,228,085...55,311,611
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Kdr
kinase insert domain receptor
IMP
RGD
PMID:21277350
RGD:5684383
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Map1lc3a
microtubule-associated protein 1 light chain 3 alpha
IEP
RGD
PMID:25919564
RGD:11558017
NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
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Map2
microtubule-associated protein 2
IDA
RGD
PMID:21300124
RGD:6483088
NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
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Map3k5
mitogen-activated protein kinase kinase kinase 5
IEP
RGD
PMID:21843499
RGD:9587791
NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800
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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 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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Mapt
microtubule-associated protein tau
treatment
IDA
RGD
PMID:25665755
RGD:13782373
NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
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Mbd2
methyl-CpG binding domain protein 2
IEP
protein:increased expression:brain:
RGD
PMID:23716065
RGD:9588620
NCBI chr18:64,174,002...64,240,795
Ensembl chr18:64,174,002...64,240,794
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Mbp
myelin basic protein
IEP
protein:decreased expression:white matter:
RGD
PMID:23715956
RGD:7327196
NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
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Mir140
microRNA 140
severity
ISO
miRNA:decreased expression:blood serum (human)
RGD
PMID:34331407
RGD:329347831
NCBI chr19:35,465,577...35,465,675
Ensembl chr19:35,465,577...35,465,675
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Mir17
microRNA 17
ISO
RGD
PMID:35085690
RGD:329349305
NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712
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Mir210
microRNA 210
treatment disease_progression
IMP ISO
miRNA:decreased expression:blood serum (human) associated with Brain Injuries;miRNA:increased expression:brain, cerebral hemisphere (human)
RGD
PMID:26875527 PMID:24089674 PMID:29568675 PMID:33402183
RGD:11572290 , RGD:155882465 , RGD:155598592 , RGD:155582222
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
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Mmp3
matrix metallopeptidase 3
treatment
IEP
RGD
PMID:21038694
RGD:8694100
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mpo
myeloperoxidase
IEP
protein:increased activity:brain:
RGD
PMID:25720338
RGD:152995398
NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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Naglu
N-acetyl-alpha-glucosaminidase
IEP
protein:increased activity:brain:
RGD
PMID:25720338
RGD:152995398
NCBI chr10:86,001,545...86,009,049
Ensembl chr10:86,001,566...86,008,972
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23694759
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nrf1
nuclear respiratory factor 1
IEP
mRNA, protein:increase expression:cerebral cortex
RGD
PMID:18723421
RGD:2302400
NCBI chr 4:58,664,932...58,772,328
Ensembl chr 4:58,664,957...58,825,328
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Ntrk1
neurotrophic receptor tyrosine kinase 1
IEP
mRNA:increased expression:brain
RGD
PMID:19633950
RGD:5684358
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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Pdgfb
platelet derived growth factor subunit B
IEP
RGD
PMID:10215166
RGD:10449494
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Plat
plasminogen activator, tissue type
onset
IEP
RGD
PMID:18467699
RGD:6483831
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Plau
plasminogen activator, urokinase
IDA IEP
mRNA, protein:increased expression, increased activity:hippocampus (rat)
RGD
PMID:19587273 PMID:18467699
RGD:2316117 , RGD:6483831
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Ppp1r1b
protein phosphatase 1, regulatory (inhibitor) subunit 1B
IEP
RGD
PMID:23153068
RGD:13515077
NCBI chr10:83,347,731...83,356,775
Ensembl chr10:83,347,731...83,356,775
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Prkdc
protein kinase, DNA-activated, catalytic subunit
treatment
IMP
RGD
PMID:30485360
RGD:39938998
NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952
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Prkdcem1Sage
protein kinase, DNA-activated, catalytic subunit; ZFN induced mutant 1, Sage
treatment
IMP
RGD
PMID:30485360
RGD:39938998
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Ptpn5
protein tyrosine phosphatase, non-receptor type 5
IEP
STEP33;protein:increased expression:forebrain (rat)
RGD
PMID:10537057
RGD:9835021
NCBI chr 1:97,620,638...97,681,186
Ensembl chr 1:97,620,642...97,679,882
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Ptprz1
protein tyrosine phosphatase, receptor type Z1
IEP
RGD
PMID:16041802
RGD:9590116
NCBI chr 4:51,397,316...51,595,220
Ensembl chr 4:51,397,601...51,595,218
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Rnf146
ring finger protein 146
IEP
RGD
PMID:28108258
RGD:13524865
NCBI chr 1:28,458,864...28,475,758
Ensembl chr 1:28,458,887...28,475,923
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Robo1
roundabout guidance receptor 1
exacerbates
IMP
RGD
PMID:31356825
RGD:242905191
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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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 chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Serpine1
serpin family E member 1
ISO
RGD
PMID:19587273
RGD:2316117
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Slc9a1
solute carrier family 9 member A1
IMP
RGD
PMID:20883671
RGD:6771331
NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624
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Slit2
slit guidance ligand 2
treatment
IEP
RGD
PMID:31356825
RGD:242905191
NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
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Spi1
Spi-1 proto-oncogene
IEP
protein:increased expression:CA1 field of hippocampus
RGD
PMID:10713349
RGD:9586724
NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393
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Srgap1
SLIT-ROBO Rho GTPase activating protein 1
exacerbates
IMP
RGD
PMID:31356825
RGD:242905191
NCBI chr 7:57,329,532...57,594,681
Ensembl chr 7:57,329,532...57,596,196
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Tert
telomerase reverse transcriptase
treatment
IDA
RGD
PMID:21940960
RGD:11038672
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tf
transferrin
treatment
ISO
RGD
PMID:22736466
RGD:7244383
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
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Tfam
transcription factor A, mitochondrial
IEP
mRNA:increased expression:cerebral cortex
RGD
PMID:18723421
RGD:2302400
NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
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Tlr2
toll-like receptor 2
ISO
RGD
PMID:28139935
RGD:15090829
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Trpc6
transient receptor potential cation channel, subfamily C, member 6
IEP
mRNA:increased expression:glomerular podocytes (rat)
RGD
PMID:31784544
RGD:155882534
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23694759
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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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 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157
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Ace
angiotensin I converting enzyme
IEP
mRNA:increased expression:carotid body
RGD
PMID:24036592
RGD:11039031
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Agt
angiotensinogen
IEP
mRNA, protein:increased expression:type I cell of carotid body
RGD
PMID:24036592
RGD:11039031
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr1a
angiotensin II receptor, type 1a
IEP
mRNA:increased expression:kidney cortex (rat)
RGD
PMID:32416216
RGD:401793731
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Ahr
aryl hydrocarbon receptor
IEP
mRNA:increased expression:kidney cortex, kidney medulla, liver (rat)
RGD
PMID:32416216
RGD:401793731
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Arnt
aryl hydrocarbon receptor nuclear translocator
IEP
mRNA:increased expression:liver, visceral adipose tissue (rat)
RGD
PMID:32416216
RGD:401793731
NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
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Bax
BCL2 associated X, apoptosis regulator
treatment
IEP
RGD
PMID:26769958
RGD:13792505
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bcl2
BCL2, apoptosis regulator
treatment
IDA
RGD
PMID:26769958
RGD:13792505
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Becn1
beclin 1
IEP
RGD
PMID:24990154
RGD:11561988
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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Bnip3
BCL2 interacting protein 3
IEP
RGD
PMID:24990154
RGD:11561988
NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
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Ccl2
C-C motif chemokine ligand 2
IEP
mRNA, protein:increased expression:liver (rat)
RGD
PMID:32626927
RGD:401959337
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
IEP
mRNA:increased expression:kidney cortex, kidney medulla, liver (rat)
RGD
PMID:32416216
RGD:401793731
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Epas1
endothelial PAS domain protein 1
IEP
mRNA:increased expression:kidney medulla (rat)
RGD
PMID:32416216
RGD:401793731
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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Fadd
Fas associated via death domain
treatment
IEP
RGD
PMID:26769958
RGD:13792505
NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
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Fn1
fibronectin 1
IEP
mRNA:increased expression:kidney cortex (rat)
RGD
PMID:32416216
RGD:401793731
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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Hif1a
hypoxia inducible factor 1 subunit alpha
IEP
mRNA:increased expression:kidney cortex, kidney medulla (rat)
RGD
PMID:32416216
RGD:401793731
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Hif3a
hypoxia inducible factor 3 subunit alpha
IEP
mRNA:increased expression:kidney cortex, kidney medulla (rat)
RGD
PMID:32416216
RGD:401793731
NCBI chr 1:77,718,110...77,750,448
Ensembl chr 1:77,722,471...77,749,758
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Hk1
hexokinase 1
IEP
mRNA, protein:increased expression:cardiac ventricle
RGD
PMID:24525799
RGD:11353961
NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131
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Hk2
hexokinase 2
IEP
mRNA, protein:increased expression:cardiac ventricle
RGD
PMID:24525799
RGD:11353961
NCBI chr 4:115,234,509...115,283,530
Ensembl chr 4:115,234,509...115,283,530
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Hspa5
heat shock protein family A (Hsp70) member 5
IEP
mRNA:increased expression:kidney cortex, kidney medulla, liver (rat)
RGD
PMID:32416216
RGD:401793731
NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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Icam1
intercellular adhesion molecule 1
IEP
mRNA, protein:increased expression:liver (rat)
RGD
PMID:32626927
RGD:401959337
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Il1b
interleukin 1 beta
IEP
mRNA, protein:increased expression:liver (rat)
RGD
PMID:32626927
RGD:401959337
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Lpl
lipoprotein lipase
treatment
IEP
RGD
PMID:29968701
RGD:13793400
NCBI chr16:20,830,055...20,853,855
Ensembl chr16:20,829,465...20,855,249
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Map1lc3a
microtubule-associated protein 1 light chain 3 alpha
IEP
RGD
PMID:24990154
RGD:11561988
NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
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Pck1
phosphoenolpyruvate carboxykinase 1
IEP
mRNA:increased expression:kidney, liver (rat)
RGD
PMID:32416216
RGD:401793731
NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191
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Rela
RELA proto-oncogene, NF-kB subunit
IEP
mRNA:increased expression:kidney cortex (rat) protein:increased expression:liver (rat)
RGD
PMID:32416216 PMID:32626927
RGD:401793731 , RGD:401959337
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Ren
renin
IEP
mRNA:increased expression:kidney medulla (rat)
RGD
PMID:32416216
RGD:401793731
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Tlr4
toll-like receptor 4
treatment
IMP
RGD
PMID:32626927
RGD:401959337
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tnf
tumor necrosis factor
IEP
mRNA, protein:increased expression:liver (rat)
RGD
PMID:32626927
RGD:401959337
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Vcam1
vascular cell adhesion molecule 1
IEP
mRNA, protein:increased expression:liver (rat)
RGD
PMID:32626927
RGD:401959337
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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Vegfa
vascular endothelial growth factor A
IEP
mRNA:increased expression:kidney medulla (rat)
RGD
PMID:32416216
RGD:401793731
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vim
vimentin
IEP
mRNA:increased expression:kidney cortex, kidney medulla (rat)
RGD
PMID:32416216
RGD:401793731
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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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 PMID:17576681 PMID:18296573 PMID:18485777 PMID:19759001 PMID:20370816 PMID:21292558 PMID:22858719 PMID:23419474 PMID:23430561 PMID:23708187 PMID:24266778 PMID:24297574 PMID:24645144 PMID:24658933 PMID:24781210 PMID:25256445 PMID:25741868 PMID:25762494 PMID:25979913 PMID:26467025 PMID:27014579 PMID:27419045 PMID:27781031 PMID:28133863 PMID:28349276 PMID:28492532 PMID:28929476 PMID:28985901 PMID:29588952 PMID:29610166 PMID:31440721 PMID:32395712 PMID:32788630 PMID:32888189 PMID:33087887 PMID:33981986 PMID:34177756 PMID:34769443 PMID:35217610 PMID:35495162 PMID:35636100 PMID:35715422 PMID:36007526 PMID:36106796 PMID:36801247 More...
NCBI chr10:81,924,584...81,930,844
Ensembl chr10:81,924,569...81,930,871
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