PATHWAY ONTOLOGY - ANNOTATIONS
The Pathway Ontology (PW), is currently being developed at the Rat Genome Database. For more information about this vocabulary, please see Petri et al. The rat genome database pathway portal. Database (Oxford). 2011 Apr 8;2011:bar010. Print 2011 or contact us (https://rgd.mcw.edu/rgdweb/contact/contactus.html ).
Term: altered regulatory pathway
Accession: PW:0000263
browse the term
Definition: Those regulatory pathways that deviate from what their normal course should be. Aberrant regulatory pathways, alone or in combination with other pathways underlie many conditions, disorders and/or diseases.
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AR
androgen receptor
ISO
RGD
PMID:18008377 PMID:23759327
RGD:2326139 RGD:8693397
NCBI chr X:56,722,828...56,909,004
Ensembl chr X:66,791,081...66,969,357
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NCOA2
nuclear receptor coactivator 2
ISO
RGD
PMID:23759327
RGD:8693397
NCBI chr 8:66,632,139...66,929,526
Ensembl chr 8:68,293,018...68,400,479
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NCOR2
nuclear receptor corepressor 2
ISO
RGD
PMID:23759327
RGD:8693397
NCBI chr12:121,913,368...122,155,031
Ensembl chr12:126,201,779...126,372,745
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FH
fumarate hydratase
ISO
RGD
PMID:17211469
RGD:6907135
NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212
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SDHB
succinate dehydrogenase complex iron sulfur subunit B
ISO
RGD
PMID:21771581
RGD:6907134
NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509
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DNAJC6
DnaJ heat shock protein family (Hsp40) member C6
ISO
RGD
PMID:25302295
RGD:10450553
NCBI chr 1:64,501,805...64,662,999
Ensembl chr 1:66,399,968...66,550,879
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SYNJ1
synaptojanin 1
ISO
RGD
PMID:25302295
RGD:10450553
NCBI chr21:18,990,526...19,088,839
Ensembl chr21:32,368,949...32,466,994
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MBD4
methyl-CpG binding domain 4, DNA glycosylase
ISO
in silico assessment of loss of DNA-protein interactions and observed enhancement of DNA repair capacity (DRC) in the context of nucleotide excision repair (NER) pathway for SNP
RGD
PMID:24004570
RGD:9588971
NCBI chr 3:126,489,125...126,498,034
Ensembl chr 3:133,839,643...133,851,450
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LEP
leptin
ISO
RGD
PMID:11102451 PMID:15703762
RGD:1357910 RGD:61790
NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
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LEPR
leptin receptor
ISO
RGD
PMID:11102451 PMID:15703762
RGD:1357910 RGD:61790
NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
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MC4R
melanocortin 4 receptor
ISO
RGD
PMID:15189116
RGD:1357925
NCBI chr18:53,744,172...53,747,282
Ensembl chr18:57,069,259...57,070,257
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PCSK1
proprotein convertase subtilisin/kexin type 1
ISO
RGD
PMID:11874690
RGD:1357926
NCBI chr 5:18,917,488...18,960,102
Ensembl chr 5:19,064,004...19,106,486
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POMC
proopiomelanocortin
ISO
RGD
PMID:11874690
RGD:1357926
NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
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CDKN2A
cyclin dependent kinase inhibitor 2A
ISO
RGD
PMID:18772397
RGD:5490966
NCBI chr 9:21,803,862...21,831,322
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VHL
von Hippel-Lindau tumor suppressor
ISO
RGD
PMID:22035299
RGD:6907133
NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234
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AKT2
AKT serine/threonine kinase 2
ISO
RGD
PMID:21979934
RGD:7248543
NCBI chr19:37,275,799...37,331,971
Ensembl chr19:45,791,800...45,840,271
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TBC1D4
TBC1 domain family member 4
ISO
RGD
PMID:19470471
RGD:7248544
NCBI chr13:56,513,065...56,706,491
Ensembl chr13:75,282,441...75,361,729
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ABCC8
ATP binding cassette subfamily C member 8
ISO
DNA:missense mutation::A1369S
RGD
PMID:17259403
RGD:2313628
NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870
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KCNJ11
potassium inwardly rectifying channel subfamily J member 11
ISO
DNA:missense mutation::p.E23K (human) polymorphisms in the gene are linked to altered insulin secretion; E23K polymorphism appears to confer susceptibility to diabetes type-2 in Caucasian population
RGD
PMID:15565284 PMID:17259403
RGD:2313610 RGD:2313628
NCBI chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729
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INS
insulin
ISO
RGD
PMID:9809695
RGD:2313694
NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
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INSR
insulin receptor
ISO
RGD
PMID:9809695
RGD:2313694
NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
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INSR
insulin receptor
ISO
increased basal hypothalamic leptin signaling without changes in leptin receptor expression after antisense-mediated hypothalamus-specific Insr knock-down
RGD
PMID:17585961
RGD:2290473
NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889
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LEP
leptin
ISO
RGD
PMID:11102451 PMID:15703762
RGD:1357910 RGD:61790
NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519
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LEPR
leptin receptor
ISO
RGD
PMID:11102451 PMID:15703762 PMID:17229951
RGD:1357910 RGD:1600611 RGD:61790
NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768
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AGRP
agouti related neuropeptide
ISO
RGD
PMID:15189116
RGD:1357925
NCBI chr16:47,827,532...47,872,727
Ensembl chr16:67,216,008...67,217,258
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MC4R
melanocortin 4 receptor
ISO
RGD
PMID:15189116
RGD:1357925
NCBI chr18:53,744,172...53,747,282
Ensembl chr18:57,069,259...57,070,257
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PCSK1
proprotein convertase subtilisin/kexin type 1
ISO
RGD
PMID:11874690 PMID:15189116
RGD:1357925 RGD:1357926
NCBI chr 5:18,917,488...18,960,102
Ensembl chr 5:19,064,004...19,106,486
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POMC
proopiomelanocortin
ISO
RGD
PMID:11874690 PMID:15189116
RGD:1357925 RGD:1357926
NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
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SDC1
syndecan 1
ISO
RGD
PMID:15189116
RGD:1357925
NCBI chr2A:20,187,249...20,211,567
Ensembl chr2A:20,302,589...20,309,848
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MLH1
mutL homolog 1
ISO
RGD
PMID:11900875 PMID:19078924
RGD:2306714 RGD:4143515
NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
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MSH2
mutS homolog 2
ISO
RGD
PMID:11900875
RGD:2306714
NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
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MSH6
mutS homolog 6
ISO
RGD
PMID:11900875 PMID:19078924
RGD:2306714 RGD:4143515
NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779
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PMS1
PMS1 homolog 1, mismatch repair system component
ISO
RGD
PMID:11900875
RGD:2306714
NCBI chr2B:77,090,215...77,180,724
Ensembl chr2B:195,010,233...195,100,492
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PMS2
PMS1 homolog 2, mismatch repair system component
ISO
RGD
PMID:11900875
RGD:2306714
NCBI chr 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984
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PINK1
PTEN induced kinase 1
ISO
RGD
PMID:24735649
RGD:10450527
NCBI chr 1:19,583,330...19,601,248
Ensembl chr 1:20,627,693...20,645,560
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PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
RGD
PMID:24735649
RGD:10450527
NCBI chr 6:159,293,016...160,679,106
Ensembl chr 6:164,314,990...165,678,770
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DDB1
damage specific DNA binding protein 1
ISO
RGD
PMID:22824526
RGD:7246919
NCBI chr11:56,599,422...56,633,140
Ensembl chr11:59,964,235...59,997,805
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
RGD
PMID:22824526
RGD:7246919
NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
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ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit
ISO
RGD
PMID:22824526
RGD:7246919
NCBI chr2B:32,983,492...33,020,492
Ensembl chr2B:127,922,483...127,959,372
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ERCC4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
in silico assessment of alteration of DNA-protein, protein-protein interactions and observed reduction of DNA repair capacity in the context of nucleotide excision repair pathway for SNP
RGD
PMID:22824526 PMID:24004570
RGD:7246919 RGD:9588971
NCBI chr16:12,848,334...12,880,480
Ensembl chr16:14,272,417...14,304,496
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ERCC5
ERCC excision repair 5, endonuclease
ISO
RGD
PMID:22824526
RGD:7246919
NCBI chr13:84,005,950...84,036,710
Ensembl chr13:103,096,344...103,174,182
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ERCC6
ERCC excision repair 6, chromatin remodeling factor
ISO
RGD
PMID:22824526
RGD:7246919
NCBI chr10:44,703,720...44,784,948
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ERCC8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
ISO
RGD
PMID:22824526
RGD:7246919
NCBI chr 5:53,053,712...53,131,563
Ensembl chr 5:54,693,987...54,765,496
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XPA
XPA, DNA damage recognition and repair factor
ISO
RGD
PMID:22824526
RGD:7246919
NCBI chr 9:68,726,723...68,788,049
Ensembl chr 9:96,886,795...96,909,254
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XPC
XPC complex subunit, DNA damage recognition and repair factor
ISO
RGD
PMID:22824526
RGD:7246919
NCBI chr 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377
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ETS1
ETS proto-oncogene 1, transcription factor
ISO
RGD
PMID:22713868
RGD:8663430
NCBI chr11:123,272,111...123,400,413
Ensembl chr11:127,174,721...127,288,673
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MDM2
MDM2 proto-oncogene
ISO
RGD
PMID:19165225 PMID:23262034
RGD:2316186 RGD:8663434
NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278
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MDM4
MDM4 regulator of p53
ISO
RGD
PMID:23262034
RGD:8663434
NCBI chr 1:180,117,364...180,151,144
Ensembl chr 1:184,406,124...184,439,344
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MRE11
MRE11 double strand break repair nuclease
ISO
RGD
PMID:23263379
RGD:8663431
NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966
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NFYA
nuclear transcription factor Y subunit alpha
ISO
RGD
PMID:22713868 PMID:23263379
RGD:8663430 RGD:8663431
NCBI chr 6:40,661,407...40,688,440
Ensembl chr 6:41,969,561...41,996,963
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NFYB
nuclear transcription factor Y subunit beta
ISO
RGD
PMID:22713868 PMID:23263379
RGD:8663430 RGD:8663431
NCBI chr12:101,693,559...101,714,057
Ensembl chr12:105,089,028...105,108,825
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NFYC
nuclear transcription factor Y subunit gamma
ISO
RGD
PMID:22713868 PMID:23263379
RGD:8663430 RGD:8663431
NCBI chr 1:39,984,716...40,064,464
Ensembl chr 1:41,304,194...41,383,615
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PIN1
peptidylprolyl cis/trans isomerase, NIMA-interacting 1
ISO
RGD
PMID:22713868
RGD:8663430
NCBI chr19:9,389,829...9,404,099
Ensembl chr19:10,053,254...10,066,853
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SREBF2
sterol regulatory element binding transcription factor 2
ISO
RGD
PMID:22713868 PMID:23263379
RGD:8663430 RGD:8663431
NCBI chr22:22,725,790...22,799,749
Ensembl chr22:40,811,459...40,884,947
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TP53
tumor protein p53
ISO
RGD
PMID:18772397 PMID:19078924 PMID:19165225 PMID:20951313 PMID:22713868 PMID:23263379 PMID:23759327 More...
RGD:2316186 RGD:4143515 RGD:5133242 RGD:5490966 RGD:8663430 RGD:8663431 RGD:8693397
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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TP63
tumor protein p63
ISO
RGD
PMID:22713868 PMID:23263379
RGD:8663430 RGD:8663431
NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104
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TP73
tumor protein p73
ISO
RGD
PMID:22713868 PMID:23263379
RGD:8663430 RGD:8663431
NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206
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VDR
vitamin D receptor
ISO
RGD
PMID:22713868
RGD:8663430
NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
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ABCA4
ATP binding cassette subfamily A member 4
ISO
RGD
PMID:20212494
RGD:8547536
NCBI chr 1:96,659,703...96,784,876
Ensembl chr 1:95,386,266...95,514,589
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LRAT
lecithin retinol acyltransferase
ISO
RGD
PMID:20212494
RGD:8547536
NCBI chr 4:147,110,568...147,119,706
Ensembl chr 4:158,928,607...158,937,747
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RBP3
retinol binding protein 3
ISO
RGD
PMID:20212494
RGD:8547536
NCBI chr10:46,543,196...46,558,978
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RDH12
retinol dehydrogenase 12
ISO
RGD
PMID:20212494
RGD:8547536
NCBI chr14:48,297,854...48,314,502
Ensembl chr14:67,180,696...67,192,345
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RLBP1
retinaldehyde binding protein 1
ISO
RGD
PMID:20212494
RGD:8547536
NCBI chr15:67,901,276...67,913,911
Ensembl chr15:87,108,815...87,117,971
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RPE65
retinoid isomerohydrolase RPE65
ISO
RGD
PMID:20212494
RGD:8547536
NCBI chr 1:67,666,784...67,687,891
Ensembl chr 1:69,623,775...69,644,904
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DNAJC13
DnaJ heat shock protein family (Hsp40) member C13
ISO
RGD
PMID:25701813
RGD:10450845
NCBI chr 3:129,492,658...129,612,040
Ensembl chr 3:136,970,007...137,088,775
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VPS35
VPS35 retromer complex component
ISO
RGD
PMID:25619244 PMID:25701813
RGD:10450542 RGD:10450845
NCBI chr16:26,924,901...26,954,443
Ensembl chr16:45,817,371...45,846,531
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ABCA1
ATP binding cassette subfamily A member 1
ISO
RGD
PMID:11086027
RGD:1600951
NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188
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ABCA3
ATP binding cassette subfamily A member 3
ISO
RGD
PMID:15985750
RGD:1549859
NCBI chr16:1,132,435...1,196,226
Ensembl chr16:2,376,006...2,437,427
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ACTL6A
actin like 6A
ISO
RGD
PMID:23355908
RGD:8694154
NCBI chr 3:176,595,149...176,620,556
Ensembl chr 3:184,765,523...184,790,983
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ARID1A
AT-rich interaction domain 1A
ISO
RGD
PMID:23355908
RGD:8694154
NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239
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ARID1B
AT-rich interaction domain 1B
ISO
RGD
PMID:23355908
RGD:8694154
NCBI chr 6:154,581,148...155,018,706
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PBRM1
polybromo 1
ISO
RGD
PMID:23355908
RGD:8694154
NCBI chr 3:52,487,083...52,626,418
Ensembl chr 3:53,718,051...53,850,146
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SMARCA4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
RGD
PMID:23355908
RGD:8694154
NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952
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UBE2D3
ubiquitin conjugating enzyme E2 D3
ISO
RGD
PMID:11020223
RGD:1302873
NCBI chr 4:95,218,319...95,293,053
Ensembl chr 4:105,883,133...105,900,546
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UBE2D4
ubiquitin conjugating enzyme E2 D4 (putative)
ISO
RGD
PMID:11020223
RGD:1302873
NCBI chr 7:40,295,047...40,324,705
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UBE2G1
ubiquitin conjugating enzyme E2 G1
ISO
RGD
PMID:11020223
RGD:1302873
NCBI chr17:4,321,294...4,416,936
Ensembl chr17:4,312,625...4,351,697
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UBE2I
ubiquitin conjugating enzyme E2 I
ISO
RGD
PMID:11020223
RGD:1302873
Ensembl chr16:1,367,288...1,382,575
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UBE2N
ubiquitin conjugating enzyme E2 N
ISO
RGD
PMID:11020223
RGD:1302873
NCBI chr12:90,951,446...90,984,075
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FLT4
fms related receptor tyrosine kinase 4
ISO
RGD
PMID:15563310
RGD:1334463
NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006
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KDR
kinase insert domain receptor
ISO
RGD
PMID:18221855
RGD:2292019
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
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VEGFA
vascular endothelial growth factor A
ISO
RGD
PMID:18221855
RGD:2292019
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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FLT4
fms related receptor tyrosine kinase 4
ISO
RGD
PMID:15563310
RGD:1334463
NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006
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KDR
kinase insert domain receptor
ISO
RGD
PMID:18221855
RGD:2292019
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
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VEGFA
vascular endothelial growth factor A
ISO
RGD
PMID:18221855
RGD:2292019
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all