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
TAS
RGD
PMID:18008377 PMID:23759327
RGD:2326139 , RGD:8693397
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,543,353...67,730,619
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NCOA2
nuclear receptor coactivator 2
TAS
RGD
PMID:23759327
RGD:8693397
NCBI chr 8:70,109,782...70,456,446
Ensembl chr 8:70,109,772...70,404,191
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NCOR2
nuclear receptor corepressor 2
TAS
RGD
PMID:23759327
RGD:8693397
NCBI chr12:124,324,415...124,567,612
Ensembl chr12:124,324,407...124,567,623
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FH
fumarate hydratase
TAS
RGD
PMID:17211469
RGD:6907135
NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
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SDHB
succinate dehydrogenase complex iron sulfur subunit B
TAS
RGD
PMID:21771581
RGD:6907134
NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
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SDHD
succinate dehydrogenase complex subunit D
TAS
RGD
PMID:21771581
RGD:6907134
NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
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DNAJC6
DnaJ heat shock protein family (Hsp40) member C6
TAS
RGD
PMID:25302295
RGD:10450553
NCBI chr 1:65,264,749...65,415,871
Ensembl chr 1:65,248,219...65,415,871
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SYNJ1
synaptojanin 1
TAS
RGD
PMID:25302295
RGD:10450553
NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,757...32,728,040
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MBD4
methyl-CpG binding domain 4, DNA glycosylase
IMP
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 3:129,430,947...129,439,948
Ensembl chr 3:129,430,947...129,440,543
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LEP
leptin
TAS
RGD
PMID:15703762
RGD:1357910
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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LEPR
leptin receptor
TAS
RGD
PMID:15703762
RGD:1357910
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
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MC4R
melanocortin 4 receptor
TAS
RGD
PMID:15189116
RGD:1357925
NCBI chr18:60,371,062...60,372,775
Ensembl chr18:60,371,062...60,372,775
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PCSK1
proprotein convertase subtilisin/kexin type 1
TAS
RGD
PMID:11874690
RGD:1357926
NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143
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POMC
proopiomelanocortin
TAS
RGD
PMID:11874690
RGD:1357926
NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
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CDKN2A
cyclin dependent kinase inhibitor 2A
IMP
RGD
PMID:18772397
RGD:5490966
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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VHL
von Hippel-Lindau tumor suppressor
TAS
RGD
PMID:22035299
RGD:6907133
NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676
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AKT2
AKT serine/threonine kinase 2
IMP
RGD
PMID:21979934
RGD:7248543
NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536
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TBC1D4
TBC1 domain family member 4
IMP
RGD
PMID:19470471
RGD:7248544
NCBI chr13:75,283,503...75,482,169
Ensembl chr13:75,283,503...75,482,651
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ABCC8
ATP binding cassette subfamily C member 8
IMP
DNA:missense mutation::A1369S
RGD
PMID:17259403
RGD:2313628
NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
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KCNJ11
potassium inwardly rectifying channel subfamily J member 11
TAS IMP
polymorphisms in the gene are linked to altered insulin secretion; E23K polymorphism appears to confer susceptibility to diabetes type-2 in Caucasian population DNA:missense mutation::p.E23K (human)
RGD
PMID:15565284 PMID:17259403
RGD:2313610 , RGD:2313628
NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,353
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INS
insulin
TAS
RGD
PMID:9809695
RGD:2313694
NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
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INSR
insulin receptor
TAS
RGD
PMID:9809695
RGD:2313694
NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
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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 chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
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LEP
leptin
TAS
RGD
PMID:15703762
RGD:1357910
NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629
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LEPR
leptin receptor
TAS IMP
RGD
PMID:15703762 PMID:17229951
RGD:1357910 , RGD:1600611
NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559
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AGRP
agouti related neuropeptide
TAS
RGD
PMID:15189116
RGD:1357925
NCBI chr16:67,482,571...67,483,547
Ensembl chr16:67,482,571...67,483,548
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MC4R
melanocortin 4 receptor
TAS
RGD
PMID:15189116
RGD:1357925
NCBI chr18:60,371,062...60,372,775
Ensembl chr18:60,371,062...60,372,775
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PCSK1
proprotein convertase subtilisin/kexin type 1
TAS
RGD
PMID:11874690 PMID:15189116
RGD:1357926 , RGD:1357925
NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143
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POMC
proopiomelanocortin
TAS
RGD
PMID:11874690 PMID:15189116
RGD:1357926 , RGD:1357925
NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
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SDC1
syndecan 1
ISO
RGD
PMID:15189116
RGD:1357925
NCBI chr 2:20,200,797...20,225,475
Ensembl chr 2:20,200,796...20,225,433
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MLH1
mutL homolog 1
TAS
RGD
PMID:11900875 PMID:19078924
RGD:2306714 , RGD:4143515
NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896
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MSH2
mutS homolog 2
TAS
RGD
PMID:11900875
RGD:2306714
NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
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MSH6
mutS homolog 6
TAS
RGD
PMID:11900875 PMID:19078924
RGD:2306714 , RGD:4143515
NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,109
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PMS1
PMS1 homolog 1, mismatch repair system component
TAS
RGD
PMID:11900875
RGD:2306714
NCBI chr 2:189,784,450...189,877,629
Ensembl chr 2:189,784,085...189,878,385
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PMS2
PMS1 homolog 2, mismatch repair system component
TAS
RGD
PMID:11900875
RGD:2306714
NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130
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PINK1
PTEN induced kinase 1
TAS
RGD
PMID:24735649
RGD:10450527
NCBI chr 1:20,633,458...20,651,511
Ensembl chr 1:20,633,458...20,651,511
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PRKN
parkin RBR E3 ubiquitin protein ligase
TAS
RGD
PMID:24735649
RGD:10450527
NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
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DDB1
damage specific DNA binding protein 1
TAS
RGD
PMID:22824526
RGD:7246919
NCBI chr11:61,299,451...61,333,105
Ensembl chr11:61,299,447...61,342,596
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
TAS
RGD
PMID:22824526
RGD:7246919
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,773...45,370,918
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ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit
TAS
RGD
PMID:22824526
RGD:7246919
NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,285...127,294,188
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ERCC4
ERCC excision repair 4, endonuclease catalytic subunit
TAS IMP
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 chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
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ERCC5
ERCC excision repair 5, endonuclease
TAS
RGD
PMID:22824526
RGD:7246919
NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
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ERCC6
ERCC excision repair 6, chromatin remodeling factor
TAS
RGD
PMID:22824526
RGD:7246919
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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ERCC8
ERCC excision repair 8, CSA ubiquitin ligase complex subunit
TAS
RGD
PMID:22824526
RGD:7246919
NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
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XPA
XPA, DNA damage recognition and repair factor
TAS
RGD
PMID:22824526
RGD:7246919
NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340
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XPC
XPC complex subunit, DNA damage recognition and repair factor
TAS
RGD
PMID:22824526
RGD:7246919
NCBI chr 3:14,145,147...14,178,601
Ensembl chr 3:14,145,145...14,178,652
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ETS1
ETS proto-oncogene 1, transcription factor
TAS
RGD
PMID:22713868
RGD:8663430
NCBI chr11:128,458,765...128,587,558
Ensembl chr11:128,458,761...128,587,606
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MDM2
MDM2 proto-oncogene
TAS
RGD
PMID:19165225 PMID:23262034
RGD:2316186 , RGD:8663434
NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,175...68,845,544
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MDM4
MDM4 regulator of p53
TAS
RGD
PMID:23262034
RGD:8663434
NCBI chr 1:204,516,406...204,558,120
Ensembl chr 1:204,516,369...204,558,120
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MRE11
MRE11 homolog, double strand break repair nuclease
TAS
RGD
PMID:23263379
RGD:8663431
NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,889
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NFYA
nuclear transcription factor Y subunit alpha
TAS
RGD
PMID:23263379 PMID:22713868
RGD:8663431 , RGD:8663430
NCBI chr 6:41,072,974...41,102,403
Ensembl chr 6:41,072,946...41,102,403
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NFYB
nuclear transcription factor Y subunit beta
TAS
RGD
PMID:23263379 PMID:22713868
RGD:8663431 , RGD:8663430
NCBI chr12:104,117,086...104,138,210
Ensembl chr12:104,117,080...104,138,241
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NFYC
nuclear transcription factor Y subunit gamma
TAS
RGD
PMID:23263379 PMID:22713868
RGD:8663431 , RGD:8663430
NCBI chr 1:40,691,704...40,771,603
Ensembl chr 1:40,691,570...40,771,606
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PIN1
peptidylprolyl cis/trans isomerase, NIMA-interacting 1
TAS
RGD
PMID:22713868
RGD:8663430
NCBI chr19:9,835,318...9,849,689
Ensembl chr19:9,835,257...9,849,690
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SREBF2
sterol regulatory element binding transcription factor 2
TAS
RGD
PMID:23263379 PMID:22713868
RGD:8663431 , RGD:8663430
NCBI chr22:41,833,105...41,907,305
Ensembl chr22:41,833,099...41,907,308
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TP53
tumor protein p53
TAS IMP
RGD
PMID:19165225 PMID:23759327 PMID:22713868 PMID:23263379 PMID:18772397 PMID:20951313 PMID:19078924 More...
RGD:2316186 , RGD:8693397 , RGD:8663430 , RGD:8663431 , RGD:5490966 , RGD:5133242 , RGD:4143515
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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TP63
tumor protein p63
TAS
RGD
PMID:23263379 PMID:22713868
RGD:8663431 , RGD:8663430
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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TP73
tumor protein p73
TAS
RGD
PMID:23263379 PMID:22713868
RGD:8663431 , RGD:8663430
NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
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VDR
vitamin D receptor
TAS
RGD
PMID:22713868
RGD:8663430
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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ABCA4
ATP binding cassette subfamily A member 4
TAS
RGD
PMID:20212494
RGD:8547536
NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
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LRAT
lecithin retinol acyltransferase
TAS
RGD
PMID:20212494
RGD:8547536
NCBI chr 4:154,740,838...154,753,120
Ensembl chr 4:154,626,945...154,753,120
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RBP3
retinol binding protein 3
TAS
RGD
PMID:20212494
RGD:8547536
NCBI chr10:47,348,363...47,357,881
Ensembl chr10:47,348,363...47,357,881
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RDH12
retinol dehydrogenase 12
TAS
RGD
PMID:20212494
RGD:8547536
NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451
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RLBP1
retinaldehyde binding protein 1
TAS
RGD
PMID:20212494
RGD:8547536
NCBI chr15:89,209,869...89,221,579
Ensembl chr15:89,209,869...89,222,577
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RPE65
retinoid isomerohydrolase RPE65
TAS
RGD
PMID:20212494
RGD:8547536
NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103
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DNAJC13
DnaJ heat shock protein family (Hsp40) member C13
TAS
RGD
PMID:25701813
RGD:10450845
NCBI chr 3:132,417,502...132,539,032
Ensembl chr 3:132,417,502...132,539,032
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VPS35
VPS35 retromer complex component
TAS
RGD
PMID:25619244 PMID:25701813
RGD:10450542 , RGD:10450845
NCBI chr16:46,656,132...46,689,178
Ensembl chr16:46,656,132...46,689,518
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ABCA1
ATP binding cassette subfamily A member 1
IDA
RGD
PMID:11086027
RGD:1600951
NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155
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ABCA3
ATP binding cassette subfamily A member 3
TAS
RGD
PMID:15985750
RGD:1549859
NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,878...2,340,749
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ACTL6A
actin like 6A
TAS
RGD
PMID:23355908
RGD:8694154
NCBI chr 3:179,562,926...179,588,407
Ensembl chr 3:179,562,886...179,588,407
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ARID1A
AT-rich interaction domain 1A
TAS
RGD
PMID:23355908
RGD:8694154
NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
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ARID1B
AT-rich interaction domain 1B
TAS
RGD
PMID:23355908
RGD:8694154
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
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PBRM1
polybromo 1
TAS
RGD
PMID:23355908
RGD:8694154
NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,544,735...52,685,966
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SMARCA4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
TAS
RGD
PMID:23355908
RGD:8694154
NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,824...11,079,426
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SNCA
synuclein alpha
ISS
RGD
PMID:14556719
RGD:1302872
NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
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UBE2D2
ubiquitin conjugating enzyme E2 D2
ISS
RGD
PMID:11020223
RGD:1302873
NCBI chr 5:139,526,240...139,628,434
Ensembl chr 5:139,526,431...139,628,434
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UBE2D3
ubiquitin conjugating enzyme E2 D3
ISO
RGD
PMID:11020223
RGD:1302873
NCBI chr 4:102,794,383...102,868,895
Ensembl chr 4:102,793,516...102,869,287
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UBE2D4
ubiquitin conjugating enzyme E2 D4
ISO
RGD
PMID:11020223
RGD:1302873
NCBI chr 7:43,926,436...43,956,136
Ensembl chr 7:43,926,436...43,956,136
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UBE2G1
ubiquitin conjugating enzyme E2 G1
ISO
RGD
PMID:11020223
RGD:1302873
NCBI chr17:4,269,259...4,366,675
Ensembl chr17:4,269,259...4,366,675
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UBE2I
ubiquitin conjugating enzyme E2 I
ISS
RGD
PMID:11020223
RGD:1302873
NCBI chr16:1,309,152...1,327,017
Ensembl chr16:1,291,357...1,327,018
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UBE2N
ubiquitin conjugating enzyme E2 N
ISO
RGD
PMID:11020223
RGD:1302873
NCBI chr12:93,405,684...93,441,947
Ensembl chr12:93,405,673...93,442,258
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FLT4
fms related receptor tyrosine kinase 4
TAS
RGD
PMID:15563310
RGD:1334463
NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,629
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KDR
kinase insert domain receptor
ISO
RGD
PMID:18221855
RGD:2292019
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,476...55,125,595
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VEGFA
vascular endothelial growth factor A
IDA
RGD
PMID:18221855
RGD:2292019
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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FLT4
fms related receptor tyrosine kinase 4
TAS
RGD
PMID:15563310
RGD:1334463
NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,629
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KDR
kinase insert domain receptor
ISO
RGD
PMID:18221855
RGD:2292019
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,476...55,125,595
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VEGFA
vascular endothelial growth factor A
IDA
RGD
PMID:18221855
RGD:2292019
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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