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: Hyperplasia
Accession: DOID:9002221
browse the term
Definition: An increase in the number of cells in a tissue or organ without tumor formation. It differs from HYPERTROPHY, which is an increase in bulk without an increase in the number of cells.
Synonyms: exact_synonym: Hyperplasias
narrow_synonym: Columnar Cell Hyperplasia of the Breast; Flat Urothelial Hyperplasia
primary_id: MESH:D006965 ; RDO:0001143
xref: EFO:0000536 ; EFO:1000199 ; EFO:1000259 ; NCI:C3113
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Abcc8
ATP binding cassette subfamily C member 8
ISO
associated with Hyperinsulinism;DNA:missense mutations:exon:p.R1353P, p.R1421C, p.R1494W (human)
RGD
PMID:9769320
RGD:2325205
NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:96,598,647...96,679,510
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Adcyap1
adenylate cyclase activating polypeptide 1
ISO
RGD
PMID:14742740
RGD:2325255
NCBI chr 9:120,550,236...120,569,096
Ensembl chr 9:113,103,718...113,109,773
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Akt1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20530298
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
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Apc
APC regulator of WNT signaling pathway
ISO
RGD
PMID:17596282
RGD:2317191
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Ascl1
achaete-scute family bHLH transcription factor 1
IDA
RGD
PMID:12555267
RGD:704377
NCBI chr 7:23,790,642...23,793,509
Ensembl chr 7:21,903,126...21,905,993
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Asip
agouti signaling protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32937126
NCBI chr 3:163,933,768...164,021,377
Ensembl chr 3:143,555,696...143,561,171
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Bax
BCL2 associated X, apoptosis regulator
ISO
RGD
PMID:7569956
RGD:734632
NCBI chr 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368
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Brca1
BRCA1, DNA repair associated
ISO
RGD
PMID:11889595
RGD:2293156
NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,418,000...86,477,304
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Brd4
bromodomain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25242322
NCBI chr 7:11,866,997...11,946,575
Ensembl chr 7:11,216,446...11,295,539
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Cav1
caveolin 1
ISO
RGD
PMID:12368209
RGD:8661765
NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705
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Ccnb1
cyclin B1
IEP
mRNA, protein:increased expression:thyroid gland
RGD
PMID:19298605
RGD:2314685
NCBI chr 2:33,646,252...33,655,225
Ensembl chr 2:31,912,193...31,921,172
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Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12151359 PMID:21541686
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
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Cdc25a
cell division cycle 25A
ISO
RGD
PMID:17283130
RGD:2764000
NCBI chr 8:118,742,824...118,761,190
Ensembl chr 8:109,864,478...109,882,701
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
IEP
protein:increased expression
RGD
PMID:23890812
RGD:13792775
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
treatment
IEP
RGD
PMID:23427405
RGD:8552677
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Clu
clusterin
ISO
associated with Breast Diseases
RGD
PMID:10934144
RGD:8699513
NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315
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Col2a1
collagen type II alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25481498
NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:129,098,786...129,127,546
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Csk
C-terminal Src kinase
IEP
mRNA, protein:decreased expression:large intestine mucosa
RGD
PMID:15961079
RGD:5134365
NCBI chr 8:66,925,650...66,944,861
Ensembl chr 8:58,029,749...58,048,292
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Egfr
epidermal growth factor receptor
IEP
protein:increased expression:carotid artery (rat)
RGD
PMID:21357274
RGD:5131466
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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Fgf7
fibroblast growth factor 7
ISO
mRNA:increased expression:distal colon (mouse)
RGD
PMID:10338516
RGD:126928149
NCBI chr 3:133,734,557...133,786,678
Ensembl chr 3:113,281,283...113,332,929
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Glp1r
glucagon-like peptide 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23471186
NCBI chr20:8,973,393...9,011,622
Ensembl chr20:8,972,004...9,010,241
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20526721
NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
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Hmox1
heme oxygenase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19234301
NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079
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Hspb1
heat shock protein family B (small) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20864298
NCBI chr12:26,430,640...26,432,301
Ensembl chr12:20,794,028...20,795,743
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Ikbkb
inhibitor of nuclear factor kappa B kinase subunit beta
IMP
RGD
PMID:15939736
RGD:7495757
NCBI chr16:76,021,968...76,075,717
Ensembl chr16:69,319,554...69,373,250
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Il13
interleukin 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19342650
NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737
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Il9
interleukin 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19342650
NCBI chr17:8,117,028...8,120,151
Ensembl chr17:8,111,772...8,114,895
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Kcnk1
potassium two pore domain channel subfamily K member 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23291559
NCBI chr19:70,856,985...70,895,053
Ensembl chr19:53,959,657...53,997,724
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Kdm1a
lysine demethylase 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22493729
NCBI chr 5:154,066,436...154,121,913
Ensembl chr 5:148,782,976...148,838,319
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Ldlr
low density lipoprotein receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9207284
NCBI chr 8:28,546,191...28,569,075
Ensembl chr 8:20,270,041...20,294,580
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Lep
leptin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27712037
NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262
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Mapk6
mitogen-activated protein kinase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561872
NCBI chr 8:85,027,141...85,050,236
Ensembl chr 8:76,146,690...76,169,720
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Mat1a
methionine adenosyltransferase 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12060674
NCBI chr16:17,017,168...17,035,368
Ensembl chr16:16,983,022...17,001,274
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Mir340
microRNA 340
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25926378
NCBI chr10:34,894,650...34,894,747
Ensembl chr10:34,393,568...34,393,665
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Mmp1
matrix metallopeptidase 1
IDA
Intimal Hyperplasia
RGD
PMID:22860019
RGD:7207219
NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097
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Mmp2
matrix metallopeptidase 2
IEP
protein:increased expression:serum
RGD
PMID:19726059
RGD:2325718
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15728660
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25174395
NCBI chr 6:41,446,683...41,452,584
Ensembl chr 6:35,717,764...35,723,590
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19234301
NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737
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Ogg1
8-oxoguanine DNA glycosylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19336973
NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766
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Pam
peptidylglycine alpha-amidating monooxygenase
IEP
protein:increased expression:lung, alveolus (rat)
RGD
PMID:11742033
RGD:6483575
NCBI chr 9:105,445,812...105,719,287
Ensembl chr 9:98,122,916...98,271,965
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22729222 PMID:22214849
RGD:13207413
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
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Prg4
proteoglycan 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10545950
NCBI chr13:65,037,363...65,054,764
Ensembl chr13:62,487,257...62,504,119
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12151359 PMID:17093206 PMID:22561872
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
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Rln3
relaxin 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16112403
NCBI chr19:24,107,401...24,109,432
Ensembl chr19:24,107,401...24,109,886
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Tcf7l2
transcription factor 7 like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21383188
NCBI chr 1:264,791,335...264,984,225
Ensembl chr 1:254,786,091...254,978,967
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20172950
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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Tgfbr2
transforming growth factor, beta receptor 2
IEP
mRNA:increased expression:bile duct, duct epithelial cell
RGD
PMID:12632524
RGD:1299231
NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:115,794,537...115,883,228
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Trpv3
transient receptor potential cation channel, subfamily V, member 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:32535744
NCBI chr10:58,382,054...58,413,657
Ensembl chr10:57,883,546...57,913,296
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Vegfa
vascular endothelial growth factor A
ISO
associated with Breast Diseases;protein:increased expression:breast
RGD
PMID:19623180
RGD:2315458
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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Zfp36
zinc finger protein 36
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15944294
NCBI chr 1:92,796,628...92,799,108
Ensembl chr 1:83,669,084...83,671,564
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Ager
advanced glycosylation end product-specific receptor
ISO
RGD
PMID:18208974
RGD:8695988
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
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Srsf6
serine and arginine rich splicing factor 6
ISO
human gene in a mouse model
RGD
PMID:24440982
RGD:11039481
NCBI chr 3:172,009,072...172,014,395
Ensembl chr 3:151,589,535...151,594,860
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Stat3
signal transducer and activator of transcription 3
ISO
RGD
PMID:23870655
RGD:8699499
NCBI chr10:86,311,528...86,363,513
Ensembl chr10:85,811,218...85,863,057
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Akt2
AKT serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and body hemihypertrophy | ClinVar Annotator: match by term: Hypoinsulinemic hypoglycemia and hemihypertrophy
OMIM ClinVar
PMID:15166380 PMID:16722806 PMID:17327441 PMID:21518566 PMID:21979934 PMID:25741868 PMID:28341696 PMID:28492532 More...
NCBI chr 1:92,004,705...92,061,420
Ensembl chr 1:82,883,547...82,933,817
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Ccr2
C-C motif chemokine receptor 2
ISO
associated with Vascular System Injuries;
RGD
PMID:20836883
RGD:8661636
NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:123,734,430...123,742,100
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Cdk2
cyclin dependent kinase 2
treatment
ISO
RGD
PMID:8104336
RGD:10448975
NCBI chr 7:1,714,392...1,721,964
Ensembl chr 7:1,129,811...1,137,403
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Cx3cr1
C-X3-C motif chemokine receptor 1
ISO
RGD
PMID:20836883
RGD:8661636
NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:119,782,595...119,800,014
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Dusp1
dual specificity phosphatase 1
treatment
IEP
RGD
PMID:21964194
RGD:401976490
NCBI chr10:17,184,853...17,187,646
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Egr1
early growth response 1
treatment
IMP
RGD
PMID:23774133
RGD:10395302
NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766
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Foxo3
forkhead box O3
ISO
RGD
PMID:15662024
RGD:10402197
NCBI chr20:47,251,968...47,348,254
Ensembl chr20:45,672,995...45,764,561
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Icam1
intercellular adhesion molecule 1
treatment
IMP
RGD
PMID:9118520
RGD:11520787
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
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Klf5
KLF transcription factor 5
IEP
RGD
PMID:11120052
RGD:1581748
NCBI chr15:82,472,081...82,487,267
Ensembl chr15:76,064,258...76,079,445
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Mapk1
mitogen activated protein kinase 1
ameliorates treatment
IMP IEP
RGD
PMID:23498803 PMID:21964194
RGD:401976463 , RGD:401976490
NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616
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Mdm2
MDM2 proto-oncogene
treatment
ISO
RGD
PMID:21498419
RGD:10412065
NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915
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Mmp7
matrix metallopeptidase 7
IEP
RGD
PMID:20098355
RGD:9685369
NCBI chr 8:13,133,043...13,140,761
Ensembl chr 8:4,848,186...4,855,902
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Nos3
nitric oxide synthase 3
treatment
ISO
RGD
PMID:9576106
RGD:11534002
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166
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Npr2
natriuretic peptide receptor 2
ameliorates
IMP
RGD
PMID:26410366
RGD:11528696
NCBI chr 5:62,678,197...62,697,360
Ensembl chr 5:57,883,171...57,901,580
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Nrp1
neuropilin 1
ameliorates
IMP
RGD
PMID:26410366
RGD:11528696
NCBI chr19:73,256,557...73,411,705
Ensembl chr19:56,359,455...56,513,633
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Pcna
proliferating cell nuclear antigen
treatment
IMP
RGD
PMID:8104336
RGD:10448975
NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995
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Pdgfd
platelet derived growth factor D
IEP
protein:increased expression:smooth muscle cell:
RGD
PMID:15752751
RGD:9854640
NCBI chr 8:11,773,335...12,007,277
Ensembl chr 8:3,488,423...3,722,395
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Pdgfrb
platelet derived growth factor receptor beta
treatment
IMP
RGD
PMID:10982551
RGD:10449504
NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843
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Pten
phosphatase and tensin homolog
ameliorates
ISO
associated with Carotid Artery Injuries, human gene in a rat model
RGD
PMID:15569824
RGD:127285607
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Zbtb7a
zinc finger and BTB domain containing 7a
ISO
ClinVar Annotator: match by term: Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
OMIM ClinVar
PMID:25741868 PMID:31645653 PMID:34515416
NCBI chr 7:9,211,733...9,229,273
Ensembl chr 7:8,563,779...8,576,539
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Ager
advanced glycosylation end product-specific receptor
treatment
ISO
RGD
PMID:24132651
RGD:8695998
NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19258495 PMID:29609002
NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
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Akt1
AKT serine/threonine kinase 1
ISO
RGD
PMID:25751394
RGD:329328927
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
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Anxa2
annexin A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21204247
NCBI chr 8:78,986,252...79,022,638
Ensembl chr 8:70,105,253...70,141,658
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Atp2a2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
treatment
ISO
RGD
PMID:23535897
RGD:13782090
NCBI chr12:39,733,519...39,782,942
Ensembl chr12:34,072,683...34,122,101
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Atp7a
ATPase copper transporting alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20671235
NCBI chr X:75,159,635...75,267,094
Ensembl chr X:71,094,202...71,198,354
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Axl
Axl receptor tyrosine kinase
IEP
RGD
PMID:9758639
RGD:631894
NCBI chr 1:90,392,864...90,424,123
Ensembl chr 1:81,265,088...81,296,265
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Becn1
beclin 1
IMP
RGD
PMID:25238224
RGD:11558011
NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742
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Carmn
cardiac mesoderm enhancer-associated non-coding RNA
exacerbates ameliorates
ISO IDA
RGD
PMID:34694145 PMID:34694145
RGD:155883160 , RGD:155883160
NCBI chr18:55,097,848...55,118,769
Ensembl chr18:55,095,230...55,118,825
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Clu
clusterin
ISO
RGD
PMID:19696405 PMID:20032585
RGD:8699512 , RGD:9068412
NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315
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Cybb
cytochrome b-245 beta chain
treatment
IMP
RGD
PMID:20485380
RGD:11040762
NCBI chr X:16,030,596...16,065,065
Ensembl chr X:13,359,430...13,392,586
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Drd4
dopamine receptor D4
treatment
IDA
associated with type 2 diabetes mellitus
RGD
PMID:24888351
RGD:13506962
NCBI chr 1:205,825,937...205,829,124
Ensembl chr 1:196,396,366...196,399,553
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Ece1
endothelin converting enzyme 1
IEP
mRNA:increased expression:carotid artery
RGD
PMID:8575076
RGD:7244170
NCBI chr 5:155,361,031...155,462,723
Ensembl chr 5:150,077,644...150,179,371
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Entpd1
ectonucleoside triphosphate diphosphohydrolase 1
treatment
ISO
RGD
PMID:18485080
RGD:9685444
NCBI chr 1:249,374,810...249,502,310
Ensembl chr 1:239,425,430...239,552,317
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Epc1
enhancer of polycomb homolog 1
treatment
ISO
RGD
PMID:22398275
RGD:9587795
NCBI chr17:59,198,513...59,289,535
Ensembl chr17:54,503,358...54,594,425
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Erbb4
erb-b2 receptor tyrosine kinase 4
IEP
RGD
PMID:17438359
RGD:2289992
NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:69,531,481...70,596,595
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F3
coagulation factor III, tissue factor
treatment
IEP
RGD
PMID:22140576
RGD:11341672
NCBI chr 2:212,511,675...212,523,375
Ensembl chr 2:209,826,959...209,838,668
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Fgf2
fibroblast growth factor 2
IEP
RGD
PMID:8808969
RGD:8655643
NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221
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Fgfr1
Fibroblast growth factor receptor 1
IDA
RGD
PMID:15072997
RGD:10402089
NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
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Flt1
Fms related receptor tyrosine kinase 1
treatment
IEP IMP
mRNA,protein:increased expression:smooth muscle cell:
RGD
PMID:9400373 PMID:22814749
RGD:10402128 , RGD:10402146
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
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Foxo4
forkhead box O4
ISO
protein:increased expression:smooth muscle cell:
RGD
PMID:17242183 PMID:16054032
RGD:10402361 , RGD:10402362
NCBI chr X:70,425,218...70,432,120
Ensembl chr X:66,385,558...66,392,115
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Gas6
growth arrest specific 6
IEP
RGD
PMID:9758639
RGD:631894
NCBI chr16:82,747,676...82,778,090
Ensembl chr16:76,045,426...76,075,904
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Gata2
GATA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28569748
NCBI chr 4:122,211,501...122,225,058
Ensembl chr 4:120,658,986...120,667,761
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Hmox1
heme oxygenase 1
treatment
IMP
RGD
PMID:21804207
RGD:10755571
NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079
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Igf1
insulin-like growth factor 1
ISO
associated with Hypertension
RGD
PMID:12791939
RGD:1580477
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
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Iqgap1
IQ motif containing GTPase activating protein 1
ISO
associated with Vascular System Injuries
RGD
PMID:23657573
RGD:11049552
NCBI chr 1:144,088,788...144,178,989
Ensembl chr 1:134,679,586...134,769,755
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Irf8
interferon regulatory factor 8
ameliorates
ISO
associated with Carotid Artery Injuries
RGD
PMID:24248596
RGD:329902075
NCBI chr19:65,699,284...65,721,066
Ensembl chr19:48,790,588...48,811,829
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Klf5
KLF transcription factor 5
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16224062 PMID:10417400
RGD:1581746
NCBI chr15:82,472,081...82,487,267
Ensembl chr15:76,064,258...76,079,445
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Lgals3
galectin 3
IEP
mRNA:increased expression:thoracic aorta
RGD
PMID:9688561
RGD:9685205
NCBI chr15:23,099,795...23,111,731
Ensembl chr15:20,607,692...20,632,025
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Map3k5
mitogen-activated protein kinase kinase kinase 5
treatment
IMP
RGD
PMID:14638553
RGD:10412321
NCBI chr 1:16,505,387...16,723,899
Ensembl chr 1:14,685,492...14,904,800
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Mir125a
microRNA 125a
treatment
IMP
RGD
PMID:30156956
RGD:26884369
NCBI chr 1:67,350,675...67,350,759
Ensembl chr 1:58,677,626...58,677,710
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Mir126b
microRNA 126b
ameliorates
IDA
RGD
PMID:31964421
RGD:401850783
NCBI chr 3:29,813,174...29,813,246
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Mmp2
matrix metallopeptidase 2
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17964422 PMID:23344254
RGD:13207403
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
treatment
ISO IEP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17964422 PMID:23344254
RGD:13207403
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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Myb
MYB proto-oncogene, transcription factor
treatment
IMP
RGD
PMID:10438864
RGD:11532744
NCBI chr 1:17,759,309...17,793,306
Ensembl chr 1:15,939,761...15,973,057
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Nqo2
N-ribosyldihydronicotinamide:quinone dehydrogenase 2
IMP
RGD
PMID:22508052
RGD:11073699
NCBI chr17:31,114,825...31,144,062
Ensembl chr17:30,909,187...30,938,320
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Nrg1
neuregulin 1
IEP
RGD
PMID:17438359
RGD:2289992
NCBI chr16:65,954,084...67,007,484
Ensembl chr16:59,250,854...60,296,884
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Pak1
p21 (RAC1) activated kinase 1
IDA IMP
RGD
PMID:22922962 PMID:19359598
RGD:10041068 , RGD:11533945
NCBI chr 1:161,522,399...161,637,623
Ensembl chr 1:152,111,188...152,226,383
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Parp1
poly (ADP-ribose) polymerase 1
IMP
RGD
PMID:15044192
RGD:10413907
NCBI chr13:94,839,484...94,871,295
Ensembl chr13:92,307,586...92,339,404
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Pdgfb
platelet derived growth factor subunit B
IEP
RGD
PMID:8585266
RGD:10449489
NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984
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Pdgfra
platelet derived growth factor receptor alpha
treatment
IEP
associated with Carotid Artery Injuries
RGD
PMID:9323080
RGD:11087557
NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335
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Pdgfrb
platelet derived growth factor receptor beta
treatment
IEP
associated with Carotid Artery Injuries
RGD
PMID:9323080
RGD:11087557
NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843
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Pin1
peptidylprolyl cis/trans isomerase, NIMA-interacting 1
ISO
RGD
PMID:20307651
RGD:8693429
NCBI chr 8:27,465,538...27,477,016
Ensembl chr 8:19,189,373...19,200,785
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Pkn1
protein kinase N1
ameliorates
IMP
RGD
PMID:22893700
RGD:243065233
NCBI chr19:41,346,855...41,374,832
Ensembl chr19:24,442,122...24,470,107
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Poldip2
DNA polymerase delta interacting protein 2
ISO
RGD
PMID:30237457
RGD:124713557
NCBI chr10:63,905,287...63,915,655
Ensembl chr10:63,407,213...63,417,605
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Ptk2b
protein tyrosine kinase 2 beta
IMP
associated with Carotid Artery Injuries
RGD
PMID:22922962
RGD:10041068
NCBI chr15:44,536,275...44,656,754
Ensembl chr15:40,360,723...40,481,282
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Ptprc
protein tyrosine phosphatase, receptor type, C
treatment
IEP
associated with Diabetes Mellitus, Type 2
RGD
PMID:12377736
RGD:729766
NCBI chr13:52,147,717...52,259,810
Ensembl chr13:49,596,193...49,708,692
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S1pr1
sphingosine-1-phosphate receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29609002
NCBI chr 2:206,309,715...206,314,070
Ensembl chr 2:203,621,587...203,629,681
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Selp
selectin P
treatment
IMP
associated with Diabetes Mellitus, Type 2
RGD
PMID:12377736
RGD:729766
NCBI chr13:79,009,379...79,044,994
Ensembl chr13:76,476,295...76,511,845
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Senp1
SUMO specific peptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28569748
NCBI chr 7:131,042,237...131,105,826
Ensembl chr 7:129,165,774...129,221,598
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Serpine1
serpin family E member 1
treatment
IMP ISO
associated with Diabetes Mellitus, Type 2 human protein in rat model
RGD
PMID:18091579 PMID:19574558
RGD:8547879 , RGD:8547913
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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Spon2
spondin 2
ISO IMP
RGD
PMID:25751394 PMID:25751394
RGD:329328927 , RGD:329328927
NCBI chr14:81,713,070...81,742,510
Ensembl chr14:77,511,901...77,517,996
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Spon2em1Holi
spondin 2; TALEN induced mutant1, Holi
IMP
RGD
PMID:25751394
RGD:329328927
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Ssh1
slingshot protein phosphatase 1
IEP
protein:increased expression:carotid artery
RGD
PMID:21868701
RGD:11535005
NCBI chr12:48,281,756...48,343,812
Ensembl chr12:42,621,135...42,683,274
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Stat4
signal transducer and activator of transcription 4
treatment
IDA
associated with Carotid Artery Injuries
RGD
PMID:16118253
RGD:5509614
NCBI chr 9:56,964,617...57,080,523
Ensembl chr 9:49,419,340...49,588,540
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Stim1
stromal interaction molecule 1
ameliorates
IMP
RGD
PMID:19107116
RGD:151893459
NCBI chr 1:166,067,450...166,230,733
Ensembl chr 1:156,656,013...156,818,363
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Tfpi
tissue factor pathway inhibitor
treatment
ISO IEP
RGD
PMID:10521388 PMID:22140576
RGD:11060274 , RGD:11341672
NCBI chr 3:89,939,862...89,989,253
Ensembl chr 3:69,533,156...69,576,880
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Timm44
translocase of inner mitochondrial membrane 44
treatment
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:16186389
RGD:13463598
NCBI chr12:7,410,424...7,428,179
Ensembl chr12:2,612,581...2,629,351
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Yy1
YY1 transcription factor
treatment
IMP
RGD
PMID:21030713
RGD:9588268
NCBI chr 6:133,471,615...133,500,875
Ensembl chr 6:127,707,596...127,732,747
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Insr
insulin receptor
ISO
ClinVar Annotator: match by term: Mendenhall Syndrome | ClinVar Annotator: match by term: Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities | ClinVar Annotator: match by term: Rabson-Mendenhall syndrome
OMIM ClinVar
PMID:2002058 PMID:2040394 PMID:2121734 PMID:2211730 PMID:2233914 PMID:2365819 PMID:2983222 PMID:3721065 PMID:7042734 PMID:7657032 PMID:8257688 PMID:8314008 PMID:8432414 PMID:8900242 PMID:9249867 PMID:9449692 PMID:10084586 PMID:10933564 PMID:11463381 PMID:19135752 PMID:22775283 PMID:23705494 PMID:23969187 PMID:24033266 PMID:25358339 PMID:25741868 PMID:26691667 PMID:26874853 PMID:27840822 PMID:27896077 PMID:28492532 PMID:29082893 PMID:30663027 PMID:31989990 PMID:35000900 More...
NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883
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