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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
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Accession:PW:0000263 term browser 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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altered androgen signaling pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AR androgen receptor ISO RGD PMID:18008377 PMID:23759327 RGD:2326139 RGD:8693397 NCBI chr24:34,713,390...34,731,461
NCBI chr  X:51,969,785...52,167,450
Ensembl chr  X:51,969,785...52,151,912 		JBrowse link
G NCOA2 nuclear receptor coactivator 2 ISO RGD PMID:23759327 RGD:8693397 NCBI chr29:19,253,849...19,471,640
Ensembl chr29:19,222,842...19,545,371 		JBrowse link
G NCOR2 nuclear receptor corepressor 2 ISO RGD PMID:23759327 RGD:8693397 NCBI chr26:5,352,670...5,493,741
Ensembl chr26:5,331,459...5,493,830 		JBrowse link
altered citric acid cycle pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FH fumarate hydratase ISO RGD PMID:17211469 RGD:6907135 NCBI chr 7:32,900,250...32,927,436
Ensembl chr 7:32,901,586...32,927,412 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO RGD PMID:21771581 RGD:6907134 NCBI chr 2:81,158,291...81,190,110
Ensembl chr 2:81,158,291...81,190,109 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO RGD PMID:21771581 RGD:6907134 NCBI chr 5:21,030,295...21,041,125 JBrowse link
altered clathrin-dependent synaptic vesicle endocytosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 ISO RGD PMID:25302295 RGD:10450553 NCBI chr 5:44,882,111...45,021,152
Ensembl chr 5:44,884,283...45,120,203 		JBrowse link
G SYNJ1 synaptojanin 1 ISO RGD PMID:25302295 RGD:10450553 NCBI chr31:27,308,169...27,399,226
Ensembl chr31:27,308,169...27,399,197 		JBrowse link
altered DNA modification pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr20:5,716,162...5,725,068
Ensembl chr20:5,716,239...5,724,881 		JBrowse link
altered energy homeostasis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LEP leptin ISO RGD PMID:11102451 PMID:15703762 RGD:1357910 RGD:61790 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395 		JBrowse link
G LEPR leptin receptor ISO RGD PMID:11102451 PMID:15703762 RGD:1357910 RGD:61790 NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636 		JBrowse link
G MC4R melanocortin 4 receptor ISO RGD PMID:15189116 RGD:1357925 NCBI chr 1:16,131,829...16,132,827
Ensembl chr 1:16,131,589...16,133,079 		JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 ISO RGD PMID:11874690 RGD:1357926 NCBI chr 3:13,233,342...13,276,921
Ensembl chr 3:13,233,594...13,274,094 		JBrowse link
G POMC proopiomelanocortin ISO RGD PMID:11874690 RGD:1357926 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440 		JBrowse link
altered G1/S transition pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN2A cyclin dependent kinase inhibitor 2A ISO RGD PMID:18772397 RGD:5490966 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		JBrowse link
altered hypoxia inducible factor pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VHL von Hippel-Lindau tumor suppressor ISO RGD PMID:22035299 RGD:6907133 NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323 		JBrowse link
altered insulin responsive facilitative sugar transporter mediated glucose transport pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT2 AKT serine/threonine kinase 2 ISO RGD PMID:21979934 RGD:7248543 NCBI chr 1:113,359,038...113,407,119
Ensembl chr 1:113,359,575...113,407,131 		JBrowse link
G TBC1D4 TBC1 domain family member 4 ISO RGD PMID:19470471 RGD:7248544 NCBI chr22:29,109,079...29,175,357
Ensembl chr22:29,110,201...29,290,154 		JBrowse link
altered insulin secretion pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 ISO DNA:missense mutation::A1369S RGD PMID:17259403 RGD:2313628 NCBI chr21:39,963,001...40,037,040
Ensembl chr21:39,962,947...40,036,981 		JBrowse link
G 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 chr21:39,953,461...39,957,615
Ensembl chr21:39,955,551...39,956,723 		JBrowse link
altered insulin signaling pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INS insulin ISO RGD PMID:9809695 RGD:2313694 NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122 		JBrowse link
G INSR insulin receptor ISO RGD PMID:9809695 RGD:2313694 NCBI chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046 		JBrowse link
altered leptin system pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046 		JBrowse link
G LEP leptin ISO RGD PMID:11102451 PMID:15703762 RGD:1357910 RGD:61790 NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395 		JBrowse link
G LEPR leptin receptor ISO RGD PMID:11102451 PMID:15703762 PMID:17229951 RGD:1357910 RGD:1600611 RGD:61790 NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636 		JBrowse link
altered melanocortin system pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGRP agouti related neuropeptide ISO RGD PMID:15189116 RGD:1357925 NCBI chr 5:81,924,249...81,926,510
Ensembl chr 5:81,925,055...81,925,845 		JBrowse link
G MC4R melanocortin 4 receptor ISO RGD PMID:15189116 RGD:1357925 NCBI chr 1:16,131,829...16,132,827
Ensembl chr 1:16,131,589...16,133,079 		JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 ISO RGD PMID:11874690 PMID:15189116 RGD:1357925 RGD:1357926 NCBI chr 3:13,233,342...13,276,921
Ensembl chr 3:13,233,594...13,274,094 		JBrowse link
G POMC proopiomelanocortin ISO RGD PMID:11874690 PMID:15189116 RGD:1357925 RGD:1357926 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440 		JBrowse link
G SDC1 syndecan 1 ISO RGD PMID:15189116 RGD:1357925 NCBI chr17:15,220,906...15,243,974
Ensembl chr17:15,222,094...15,243,890 		JBrowse link
altered mismatch repair pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MLH1 mutL homolog 1 ISO RGD PMID:11900875 PMID:19078924 RGD:2306714 RGD:4143515 NCBI chr23:6,889,108...6,938,117
Ensembl chr23:6,889,135...6,938,116 		JBrowse link
G MSH2 mutS homolog 2 ISO RGD PMID:11900875 RGD:2306714 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210 		JBrowse link
G MSH6 mutS homolog 6 ISO RGD PMID:11900875 PMID:19078924 RGD:2306714 RGD:4143515 NCBI chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028 		JBrowse link
G PMS1 PMS1 homolog 1, mismatch repair system component ISO RGD PMID:11900875 RGD:2306714 NCBI chr37:502,752...609,640
Ensembl chr37:502,747...790,904 		JBrowse link
G PMS2 PMS1 homolog 2, mismatch repair system component ISO RGD PMID:11900875 RGD:2306714 NCBI chr 6:11,411,062...11,438,767
Ensembl chr 6:11,349,453...11,438,940 		JBrowse link
altered mitochondrial autophagy pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PINK1 PTEN induced kinase 1 ISO RGD PMID:24735649 RGD:10450527 NCBI chr 2:78,276,091...78,293,761
Ensembl chr 2:78,277,077...78,294,123 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:24735649 RGD:10450527 NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764 		JBrowse link
altered nucleotide excision repair pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDB1 damage specific DNA binding protein 1 ISO RGD PMID:22824526 RGD:7246919 NCBI chr18:55,064,720...55,097,623
Ensembl chr18:55,064,729...55,097,627 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO RGD PMID:22824526 RGD:7246919 NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit ISO RGD PMID:22824526 RGD:7246919 NCBI chr19:23,310,911...23,344,083
Ensembl chr19:23,310,986...23,337,683 		JBrowse link
G 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 chr 6:29,193,192...29,226,935
Ensembl chr 6:29,196,421...29,226,887 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease ISO RGD PMID:22824526 RGD:7246919 NCBI chr22:52,339,011...52,372,618 JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO RGD PMID:22824526 RGD:7246919 NCBI chr28:1,358,383...1,432,276
Ensembl chr28:1,361,107...1,427,162 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO RGD PMID:22824526 RGD:7246919 NCBI chr 2:47,502,777...47,559,012
Ensembl chr 2:47,503,762...47,558,889 		JBrowse link
G XPA XPA, DNA damage recognition and repair factor ISO RGD PMID:22824526 RGD:7246919 NCBI chr11:54,976,978...54,996,140
Ensembl chr11:54,976,976...54,996,065 		JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor ISO RGD PMID:22824526 RGD:7246919 NCBI chr20:4,299,644...4,328,826
Ensembl chr20:4,300,386...4,328,768 		JBrowse link
altered p53 signaling pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ETS1 ETS proto-oncogene 1, transcription factor ISO RGD PMID:22713868 RGD:8663430 NCBI chr 5:6,059,023...6,189,516
Ensembl chr 5:6,058,935...6,186,232 		JBrowse link
G MDM2 MDM2 proto-oncogene ISO RGD PMID:19165225 PMID:23262034 RGD:2316186 RGD:8663434 NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596 		JBrowse link
G MDM4 MDM4 regulator of p53 ISO RGD PMID:23262034 RGD:8663434 NCBI chr38:1,055,978...1,122,348
Ensembl chr38:1,056,109...1,107,166 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO RGD PMID:23263379 RGD:8663431 NCBI chr21:6,448,909...6,528,185
Ensembl chr21:6,449,822...6,527,119 		JBrowse link
G NFYA nuclear transcription factor Y subunit alpha ISO RGD PMID:22713868 PMID:23263379 RGD:8663430 RGD:8663431 NCBI chr12:9,827,254...9,854,693
Ensembl chr12:9,835,285...9,854,543 		JBrowse link
G NFYB nuclear transcription factor Y subunit beta ISO RGD PMID:22713868 PMID:23263379 RGD:8663430 RGD:8663431 NCBI chr15:42,608,067...42,628,816
Ensembl chr15:42,609,606...42,629,158 		JBrowse link
G NFYC nuclear transcription factor Y subunit gamma ISO RGD PMID:22713868 PMID:23263379 RGD:8663430 RGD:8663431 NCBI chr15:2,268,050...2,334,939
Ensembl chr15:2,268,102...2,318,605 		JBrowse link
G PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 ISO RGD PMID:22713868 RGD:8663430 NCBI chr20:51,156,887...51,168,131
Ensembl chr20:51,157,121...51,168,136 		JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO RGD PMID:22713868 PMID:23263379 RGD:8663430 RGD:8663431 NCBI chr10:23,451,923...23,532,765
Ensembl chr10:23,452,561...23,518,689
Ensembl chr10:23,452,561...23,518,689 		JBrowse link
G TP53 tumor protein p53 ISO RGD PMID:18772397 PMID:19078924 PMID:19165225 PMID:20951313 PMID:22713868 More... RGD:2316186 RGD:4143515 RGD:5133242 RGD:5490966 RGD:8663430 RGD:8663431 RGD:8693397 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G TP63 tumor protein p63 ISO RGD PMID:22713868 PMID:23263379 RGD:8663430 RGD:8663431 NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		JBrowse link
G TP73 tumor protein p73 ISO RGD PMID:22713868 PMID:23263379 RGD:8663430 RGD:8663431 NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839 		JBrowse link
G VDR vitamin D receptor ISO RGD PMID:22713868 RGD:8663430 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470 		JBrowse link
altered retinoid cycle metabolic pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 ISO RGD PMID:20212494 RGD:8547536 NCBI chr 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253 		JBrowse link
G LRAT lecithin retinol acyltransferase ISO RGD PMID:20212494 RGD:8547536 NCBI chr15:52,399,773...52,409,590
Ensembl chr15:52,399,544...52,406,176 		JBrowse link
G RBP3 retinol binding protein 3 ISO RGD PMID:20212494 RGD:8547536 NCBI chr 4:34,974,559...34,983,460
Ensembl chr 4:34,974,638...34,982,907 		JBrowse link
G RDH12 retinol dehydrogenase 12 ISO RGD PMID:20212494 RGD:8547536 NCBI chr 8:41,685,045...41,696,120
Ensembl chr 8:41,684,996...41,695,447 		JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO RGD PMID:20212494 RGD:8547536 NCBI chr 3:52,260,872...52,282,532
Ensembl chr 3:52,260,944...52,282,134 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO RGD PMID:20212494 RGD:8547536 NCBI chr 6:76,887,399...76,911,133
Ensembl chr 6:76,887,399...76,911,131 		JBrowse link
altered retromer-mediated pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 ISO RGD PMID:25701813 RGD:10450845 NCBI chr23:29,389,120...29,506,339
Ensembl chr23:29,389,979...29,506,343 		JBrowse link
G VPS35 VPS35 retromer complex component ISO RGD PMID:25619244 PMID:25701813 RGD:10450542 RGD:10450845 NCBI chr15:8,428,073...8,454,601
Ensembl chr15:8,428,172...8,454,049 		JBrowse link
altered reverse cholesterol transport pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ISO RGD PMID:11086027 RGD:1600951 NCBI chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496 		JBrowse link
altered surfactant homeostasis pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 ISO RGD PMID:15985750 RGD:1549859 NCBI chr 6:38,679,312...38,712,868
Ensembl chr 6:38,679,324...38,712,648 		JBrowse link
altered SWI/SNF family mediated chromatin remodeling pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTL6A actin like 6A ISO RGD PMID:23355908 RGD:8694154 NCBI chr34:12,922,506...12,988,334
Ensembl chr34:12,960,699...12,987,962 		JBrowse link
G ARID1A AT-rich interaction domain 1A ISO RGD PMID:23355908 RGD:8694154 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102 		JBrowse link
G ARID1B AT-rich interaction domain 1B ISO RGD PMID:23355908 RGD:8694154 NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104 		JBrowse link
G PBRM1 polybromo 1 ISO RGD PMID:23355908 RGD:8694154 NCBI chr20:37,110,437...37,231,676
Ensembl chr20:37,110,766...37,229,203 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO RGD PMID:23355908 RGD:8694154 NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836 		JBrowse link
altered ubiquitin/proteasome degradation pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBE2D3 ubiquitin conjugating enzyme E2 D3 ISO RGD PMID:11020223 RGD:1302873 NCBI chr32:24,190,897...24,221,627 JBrowse link
G UBE2G1 ubiquitin conjugating enzyme E2 G1 ISO RGD PMID:11020223 RGD:1302873 NCBI chr 5:30,332,277...30,430,225
Ensembl chr 5:30,334,968...30,427,529 		JBrowse link
G UBE2I ubiquitin conjugating enzyme E2 I ISO RGD PMID:11020223 RGD:1302873 NCBI chr 6:39,440,123...39,453,688
Ensembl chr 6:39,440,314...39,817,588 		JBrowse link
G UBE2N ubiquitin conjugating enzyme E2 N ISO RGD PMID:11020223 RGD:1302873 NCBI chr10:41,470,073...41,470,738
Ensembl chr10:41,470,073...41,470,738 		JBrowse link
altered vascular endothelial growth factor signaling pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLT4 fms related receptor tyrosine kinase 4 ISO RGD PMID:15563310 RGD:1334463 NCBI chr11:1,145,643...1,184,097
Ensembl chr11:1,145,585...1,185,165 		JBrowse link
altered vascular endothelial growth factor signaling pathway involving proteins affecting its expression term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDR kinase insert domain receptor ISO RGD PMID:18221855 RGD:2292019 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:18221855 RGD:2292019 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
altered vascular endothelial growth factor signaling pathway involving the main players term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLT4 fms related receptor tyrosine kinase 4 ISO RGD PMID:15563310 RGD:1334463 NCBI chr11:1,145,643...1,184,097
Ensembl chr11:1,145,585...1,185,165 		JBrowse link
G KDR kinase insert domain receptor ISO RGD PMID:18221855 RGD:2292019 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:18221855 RGD:2292019 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
Term paths to the root