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
ISO
RGD
PMID:22230263
RGD:13703065
NCBI chr 1:130,398,961...130,410,860
Ensembl chr 1:134,008,959...134,020,467
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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
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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
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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
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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
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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
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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
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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
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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
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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
RGD CTD
PMID:17285299
RGD:6482794
NCBI chr12:59,478,206...59,984,572
Ensembl chr12:62,092,241...62,596,018
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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
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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
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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 3:38,350,838...38,389,839
Ensembl chr 3:38,633,093...38,662,063
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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CASP3
caspase 3
treatment
ISO
protein:increased activity:cerebral cortex, hippocampus
RGD
PMID:18603371 PMID:21189961 PMID:23046993 PMID:24089674 PMID:27216999 PMID:29635023 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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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CRP
C-reactive protein
ISO
RGD
PMID:20220110
RGD:9585994
NCBI chr 1:135,062,102...135,064,402
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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FADD
Fas associated via death domain
treatment
ISO
RGD
PMID:29635023
RGD:13782292
NCBI chr11:65,300,889...65,305,020
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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
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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
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FST
follistatin
ISO
mRNA:decreased expression:brain (rat)
RGD
PMID:10415398
RGD:329322882
NCBI chr 5:60,544,495...60,550,516
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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
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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
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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
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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
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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
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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
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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
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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
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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
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HSPA1A
heat shock protein family A (Hsp70) member 1A
ISO
RGD
PMID:22526757
RGD:7257595
NCBI chr 6:31,476,710...31,491,411
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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
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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
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IGFBP3
insulin like growth factor binding protein 3
ISO
RGD
PMID:10709766
RGD:10402756
NCBI chr 7:46,564,234...46,573,145
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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
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IL6
interleukin 6
severity
ISO
DNA:polymorphism: :174G>C(human)
RGD
PMID:22117975
RGD:12792241
NCBI chr 7:23,415,922...23,420,767
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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:155598592 RGD:5508819
NCBI chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953
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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
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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
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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
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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
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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
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TERT
telomerase reverse transcriptase
treatment
ISO
RGD
PMID:21940960
RGD:11038672
Ensembl chr 5:1,300,960...1,338,872
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
G
FADD
Fas associated via death domain
treatment
ISO
RGD
PMID:26769958
RGD:13792505
NCBI chr11:65,300,889...65,305,020
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
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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
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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
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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
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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
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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
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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
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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
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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
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
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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
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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
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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
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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
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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
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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
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
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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
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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 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:33087887 PMID:34177756 PMID:34769443 PMID:35217610 PMID:35495162 PMID:36007526 More...
NCBI chr17:9,589,253...9,596,973
Ensembl chr17:9,773,052...9,778,922
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