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.
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Axin2
axin 2
ISO
protein:increased expression::
RGD
PMID:11809809
RGD:151356508
NCBI chrNW_004624870:2,803,743...2,832,489
Ensembl chrNW_004624870:2,800,873...2,832,626
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Cacna1d
calcium voltage-gated channel subunit alpha1 D
ISO
protein:increased expression:colon (human)
RGD
PMID:29079724
RGD:152177516
NCBI chrNW_004624822:3,391,045...3,734,258
Ensembl chrNW_004624822:3,392,044...3,919,415
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Ccnd1
cyclin D1
severity
ISO
RGD
PMID:11375949
RGD:151665121
NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191
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Ccnd2
cyclin D2
severity
ISO
RGD
PMID:11375949
RGD:151665121
NCBI chrNW_004624860:1,383,015...1,405,107
Ensembl chrNW_004624860:1,382,948...1,405,107
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Chka
choline kinase alpha
ISO
protein:increased expression:colonic mucosa (human)
RGD
PMID:10363580
RGD:10401945
NCBI chrNW_004624767:18,744,647...18,807,352
Ensembl chrNW_004624767:18,744,547...18,807,352
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Igf2bp1
insulin like growth factor 2 mRNA binding protein 1
ISO
RGD
PMID:26194191
RGD:11086893
NCBI chrNW_004624795:5,352,932...5,391,617
Ensembl chrNW_004624795:5,353,005...5,385,521
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Rac1
Rac family small GTPase 1
ISO
RGD
PMID:12865273
RGD:13432048
NCBI chrNW_004624740:30,912,841...30,933,882
Ensembl chrNW_004624740:30,911,598...30,934,025
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Rbp4
retinol binding protein 4
ISO
protein:increased expression:blood serum (human)
RGD
PMID:25712946
RGD:329849123
NCBI chrNW_004624737:4,795,054...4,800,830
Ensembl chrNW_004624737:4,791,628...4,800,989
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Tet2
tet methylcytosine dioxygenase 2
ISO
mRNA:decreased expression:colon (human)
RGD
PMID:29875879
RGD:150429665
NCBI chrNW_004624830:3,446,331...3,543,450
Ensembl chrNW_004624830:3,446,141...3,519,084
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Col11a2
collagen type XI alpha 2 chain
ISO
ClinVar Annotator: match by term: Cystic hygroma
ClinVar
PMID:10677296 PMID:21204229 PMID:22246659 PMID:24033266 PMID:25741868 PMID:26445815 PMID:28492532 PMID:29456477 PMID:31299979 PMID:31680349 PMID:33111345 More...
NCBI chrNW_004624754:23,614,486...23,640,489
Ensembl chrNW_004624754:23,614,570...23,639,591
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Lymphangioma
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21639808 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:28854169 PMID:29925953 PMID:31891627 PMID:34476331 More...
NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736
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Flt4
fms related receptor tyrosine kinase 4
ISO
protein:increased expression:;lymphatic endothelial cell:
RGD
PMID:17584927
RGD:8552338
NCBI chrNW_004624733:43,203,311...43,238,664
Ensembl chrNW_004624733:43,204,651...43,238,674
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:;lymphatic endothelial cell:
RGD
PMID:17584927
RGD:8552338
NCBI chrNW_004624761:14,330,224...14,380,680
Ensembl chrNW_004624761:14,330,489...14,379,051
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Cavernous lymphangioma
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 PMID:16906227 PMID:16930767 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21430269 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22658544 PMID:22729222 PMID:23100325 PMID:23946963 PMID:25157968 PMID:25599672 PMID:25681199 PMID:25741868 PMID:26619011 PMID:26627007 PMID:27631024 PMID:29446767 PMID:34496175 PMID:34568242 PMID:34606700 PMID:37667289 More...
NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137
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Cftr
CF transmembrane conductance regulator
ISO
ClinVar Annotator: match by term: Fetal cystic hygroma
ClinVar
PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 PMID:12815607 PMID:16199547 PMID:20059485 PMID:23974870 PMID:25741868 PMID:27240813 PMID:28492532 PMID:29879995 PMID:31036917 PMID:31131953 PMID:32357917 More...
NCBI chrNW_004624827:1,704,733...1,893,579
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Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Fetal cystic hygroma
ClinVar
PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30859559 PMID:31825158 More...
NCBI chrNW_004624945:691,063...709,599
Ensembl chrNW_004624945:691,059...709,564
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Sos1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Nuchal bleb, familial
ClinVar
PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 PMID:23487764 PMID:24033266 PMID:24458522 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30325180 PMID:30784236 PMID:31560489 More...
NCBI chrNW_004624738:20,466,120...20,591,966
Ensembl chrNW_004624738:20,466,117...20,591,910
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Sigmoid colon cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chrNW_004624743:30,517,034...30,635,740
Ensembl chrNW_004624743:30,546,323...30,635,737
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Msh2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Sigmoid colon cancer
ClinVar
PMID:10495924 PMID:12658575 PMID:15849733 PMID:17312306 PMID:18566915 PMID:20215533 PMID:23741719 PMID:24323032 PMID:24362816 PMID:25117503 PMID:25648859 PMID:25741868 PMID:26177554 PMID:26659639 PMID:27013479 PMID:27601186 PMID:28492532 PMID:28790115 PMID:31162827 PMID:33977078 PMID:34680242 More...
NCBI chrNW_004624738:28,780,596...28,861,523
Ensembl chrNW_004624738:28,780,614...28,861,704
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Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Sigmoid colon cancer
ClinVar
PMID:9354786 PMID:12376507 PMID:18809606 PMID:19924528 PMID:20176959 PMID:22283331 PMID:24710284 PMID:24728327 PMID:25536104 PMID:25741868 PMID:26046366 PMID:26467025 PMID:28492532 More...
NCBI chrNW_004624738:29,083,696...29,108,792
Ensembl chrNW_004624738:29,083,692...29,108,792
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