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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:peripheral vascular disease
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Accession:DOID:341 term browser browse the term
Definition:Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART.
Synonyms:exact_synonym: peripheral angiopathies;   peripheral angiopathy;   peripheral vascular diseases
 primary_id: MESH:D016491
 alt_id: RDO:0002074
 xref: ICD9CM:443.81
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
peripheral vascular disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm adrenomedullin ISO protein:increased expression:plasma RGD PMID:15350700 RGD:1625302 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
JBrowse link
G Apob apolipoprotein B ISO GAD PMID:15118671 RGD:1331525 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoh apolipoprotein H ISO RGD PMID:17626983 RGD:2313983 NCBI chr10:96,640,013...96,653,939
Ensembl chr10:96,639,924...96,653,938
JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO RGD PMID:18723761 RGD:5129473 NCBI chr 9:66,568,074...66,683,019
Ensembl chr 9:66,568,074...66,676,494
JBrowse link
G Cst3 cystatin C ISO protein:increased expression:serum (human) RGD PMID:19761940 RGD:2314304 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19022366 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Dab2ip DAB2 interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20622881 NCBI chr 3:14,889,263...15,060,286
Ensembl chr 3:14,889,510...15,060,286
JBrowse link
G Fas Fas cell surface death receptor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma RGD PMID:17075777 RGD:2315707 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Hfe homeostatic iron regulator no_association ISO RGD PMID:15175819 RGD:1582671 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Il6 interleukin 6 ISO associated with Metabolic Syndrome X; protein:increased expression:extracellular space (human) RGD PMID:19397692 RGD:2307191 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Lipc lipase C, hepatic type ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:transition:promoter:-250G>A (human) RGD PMID:18413186 RGD:2308822 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO associated with Mucocutaneous Lymph Node Syndrome; DNA:mutations:5' utr, exon:g.-221G>C, p.G54N (human) RGD PMID:15295097 RGD:1582151 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mstn myostatin IEP RGD PMID:19125275 RGD:2303544 NCBI chr 9:53,310,977...53,315,804
Ensembl chr 9:53,309,598...53,315,915
JBrowse link
G Sell selectin L IMP RGD PMID:17924279 RGD:2316357 NCBI chr13:82,369,820...82,387,774
Ensembl chr13:82,369,493...82,387,631
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B severity ISO protein:increased expression:plasma RGD PMID:16115489 RGD:1624125 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
ataxia telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
JBrowse link
G Atm ATM serine/threonine kinase ISO
IMP
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency
ClinVar Annotator: match by term: Louis-Bar syndrome
DNA:deletion:exon:
ClinVar Annotator: match by OMIM:208900
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1632451 PMID:1953577 PMID:2491181 PMID:2557216 PMID:3338800 PMID:6504056 PMID:7792600 PMID:8659541 PMID:8665503 PMID:8698354 PMID:8755918 PMID:8789452 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:8958160 PMID:8968760 PMID:9000145 PMID:9043869 PMID:9054948 PMID:9121450 PMID:9150358 PMID:9244351 PMID:9259193 PMID:9288106 PMID:9334731 PMID:9443866 PMID:9450874 PMID:9450906 PMID:9463314 PMID:9488043 PMID:9497252 PMID:9536098 PMID:9600235 PMID:9622061 PMID:9682216 PMID:9711876 PMID:9733514 PMID:9764584 PMID:9792409 PMID:9792410 PMID:9872980 PMID:9887333 PMID:9892178 PMID:10023947 PMID:10234507 PMID:10330348 PMID:10397742 PMID:10416970 PMID:10425038 PMID:10464642 PMID:10534763 PMID:10677309 PMID:10706620 PMID:10738255 PMID:10767628 PMID:10817650 PMID:10864201 PMID:10873394 PMID:10980530 PMID:11054065 PMID:11173867 PMID:11298136 PMID:11382771 PMID:11443540 PMID:11468183 PMID:11505391 PMID:11507241 PMID:11507245 PMID:11516106 PMID:11526498 PMID:11606401 PMID:11746755 PMID:11756177 PMID:11756185 PMID:11805335 PMID:11821961 PMID:11826028 PMID:11830610 PMID:11839094 PMID:11849780 PMID:11857346 PMID:11889466 PMID:11897820 PMID:11897822 PMID:11996792 PMID:12072877 PMID:12091354 PMID:12149228 PMID:12195425 PMID:12362033 PMID:12473176 PMID:12473594 PMID:12497634 PMID:12511424 PMID:12552559 PMID:12552566 PMID:12637545 PMID:12646636 PMID:12655570 PMID:12673794 PMID:12673797 PMID:12673804 PMID:12697903 PMID:12745884 PMID:12810666 PMID:12815592 PMID:12882767 PMID:12883528 PMID:12917204 PMID:12935922 PMID:12935933 PMID:12969974 PMID:14562025 PMID:14586414 PMID:14627829 PMID:14634505 PMID:14643952 PMID:14654357 PMID:14695186 PMID:14695534 PMID:14695997 PMID:14735203 PMID:14754616 PMID:14970866 PMID:15039971 PMID:15042666 PMID:15054841 PMID:15101044 PMID:15159313 PMID:15164409 PMID:15174027 PMID:15177039 PMID:15196260 PMID:15217508 PMID:15279808 PMID:15280931 PMID:15390180 PMID:15450731 PMID:15498871 PMID:15629612 PMID:15643608 PMID:15696190 PMID:15713674 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PMID:30927251 PMID:30938815 PMID:30963573 PMID:30982232 PMID:30995915 PMID:31050087 PMID:31054420 PMID:31101757 PMID:31118792 PMID:31125277 PMID:31139954 PMID:31159747 PMID:31160347 PMID:31173964 PMID:31206626 PMID:31216378 PMID:31227566 PMID:31248605 PMID:31263571 PMID:31273614 PMID:31325073 PMID:31341520 PMID:31360874 PMID:31407689 PMID:31415627 PMID:31422574 PMID:31428572 PMID:31617914 PMID:31658756 PMID:31666926 PMID:31719806 PMID:31731261 PMID:31742824 PMID:31780696 PMID:31784482 PMID:31811167 PMID:31815095 PMID:31843900 PMID:31867841 PMID:31871109 PMID:31882575 PMID:31919090 PMID:31920950 PMID:31921190 PMID:31942411 PMID:31948886 PMID:32039725 PMID:32068069 PMID:32125938 PMID:32172615 PMID:32183364 PMID:32295079 PMID:32325837 PMID:32488064 PMID:32566746 PMID:32601921 PMID:32658311 PMID:32832836 PMID:32854451 PMID:32860008 PMID:32866190 PMID:32906206 PMID:32986223 PMID:33128190 PMID:33280026 PMID:33309985 PMID:197781682, PMID:28007901, PMID:19626507 RGD:12879399, RGD:10053611 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Atmem1Kyo ATM serine/threonine kinase; ZFN induced mutant 1, Kyo IMP RGD PMID:28007901 RGD:12879399
G Bak1 BCL2-antagonist/killer 1 ISO DNA:mutation:exon:c.342C>T(human) RGD PMID:19898928 RGD:14394817 NCBI chr20:5,609,620...5,618,899
Ensembl chr20:5,609,625...5,618,260
JBrowse link
G Bax BCL2 associated X, apoptosis regulator susceptibility ISO DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human) RGD PMID:19898928 RGD:14394817 NCBI chr 1:101,451,801...101,457,207
Ensembl chr 1:101,451,802...101,457,207
JBrowse link
G Bik BCL2-interacting killer susceptibility ISO DNA:deletion:intron:IVS4-12delTC(human) RGD PMID:19898928 RGD:14394817 NCBI chr 7:124,390,924...124,410,449
Ensembl chr 7:124,391,432...124,410,447
JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO protein:altered localization:nucleus: RGD PMID:22466704, PMID:22466704, PMID:22466704 RGD:9681455, RGD:9681455, RGD:9681455 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Ifng interferon gamma ISO RGD PMID:6432389 RGD:8693328 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:6432389 RGD:8693328 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:26851119 RGD:11529801 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Npat nuclear protein, co-activator of histone transcription ISO ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar PMID:28492532 NCBI chr 8:58,120,179...58,158,052
Ensembl chr 8:58,120,179...58,158,052
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 ISO ClinVar Annotator: match by term: Ataxia Telangiectasia
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency
ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C
ClinVar PMID:2557216 PMID:3338800 PMID:6504056 PMID:7792600 PMID:8659541 PMID:8665503 PMID:8698354 PMID:8755918 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:9000145 PMID:9043869 PMID:9054948 PMID:9150358 PMID:9244351 PMID:9259193 PMID:9288106 PMID:9334731 PMID:9443866 PMID:9450874 PMID:9463314 PMID:9488043 PMID:9497252 PMID:9536098 PMID:9622061 PMID:9682216 PMID:9711876 PMID:9733514 PMID:9764584 PMID:9792409 PMID:9792410 PMID:9872980 PMID:9887333 PMID:10023947 PMID:10234507 PMID:10330348 PMID:10397742 PMID:10416970 PMID:10425038 PMID:10464642 PMID:10534763 PMID:10706620 PMID:10738255 PMID:10817650 PMID:10864201 PMID:10873394 PMID:10980530 PMID:11054065 PMID:11298136 PMID:11382771 PMID:11443540 PMID:11468183 PMID:11505391 PMID:11606401 PMID:11746755 PMID:11756177 PMID:11756185 PMID:11805335 PMID:11826028 PMID:11830610 PMID:11849780 PMID:11857346 PMID:11897822 PMID:12091354 PMID:12149228 PMID:12195425 PMID:12473594 PMID:12497634 PMID:12511424 PMID:12552559 PMID:12552566 PMID:12646636 PMID:12655570 PMID:12673797 PMID:12673804 PMID:12697903 PMID:12745884 PMID:12810666 PMID:12815592 PMID:12882767 PMID:12883528 PMID:12917204 PMID:12935922 PMID:12969974 PMID:14586414 PMID:14627829 PMID:14654357 PMID:14754616 PMID:14970866 PMID:15039971 PMID:15101044 PMID:15159313 PMID:15174027 PMID:15279808 PMID:15390180 PMID:15696190 PMID:15756685 PMID:15843990 PMID:15880721 PMID:15928302 PMID:16014569 PMID:16140923 PMID:16189143 PMID:16199547 PMID:16238588 PMID:16266405 PMID:16380133 PMID:16387360 PMID:16411093 PMID:16461462 PMID:16603769 PMID:16631465 PMID:16652348 PMID:16832357 PMID:16864838 PMID:16914028 PMID:16941484 PMID:16953663 PMID:16958054 PMID:17001622 PMID:17124347 PMID:17132159 PMID:17166884 PMID:17298726 PMID:17333338 PMID:17344846 PMID:17376192 PMID:17393301 PMID:17517479 PMID:17540590 PMID:17576681 PMID:17623063 PMID:17640065 PMID:17910737 PMID:17968022 PMID:18066086 PMID:18321536 PMID:18384426 PMID:18414213 PMID:18431795 PMID:18497957 PMID:18504682 PMID:18560558 PMID:18573109 PMID:18575927 PMID:18634022 PMID:18807267 PMID:18813293 PMID:19018867 PMID:19347964 PMID:19404735 PMID:19431188 PMID:19440741 PMID:19535770 PMID:19605768 PMID:19691550 PMID:19763152 PMID:19781682 PMID:19823873 PMID:19931588 PMID:20077034 PMID:20153123 PMID:20232390 PMID:20301790 PMID:20305132 PMID:20307669 PMID:20346647 PMID:20480175 PMID:20840352 PMID:20945614 PMID:20966255 PMID:21150274 PMID:21346221 PMID:21354641 PMID:21445571 PMID:21459046 PMID:21665257 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21833744 PMID:21933854 PMID:21965147 PMID:21993670 PMID:22006793 PMID:22017321 PMID:22071889 PMID:22146522 PMID:22213089 PMID:22250480 PMID:22345219 PMID:22369572 PMID:22406018 PMID:22420423 PMID:22529920 PMID:22585167 PMID:22585170 PMID:22649200 PMID:22674506 PMID:22869595 PMID:22895193 PMID:22952040 PMID:22995991 PMID:23091097 PMID:23142947 PMID:23143971 PMID:23264026 PMID:23322442 PMID:23454770 PMID:23532176 PMID:23555315 PMID:23585368 PMID:23585524 PMID:23632773 PMID:23640770 PMID:23667852 PMID:23671275 PMID:23761041 PMID:23774824 PMID:23807571 PMID:23836671 PMID:23946315 PMID:24033266 PMID:24088041 PMID:24090759 PMID:24172824 PMID:24326041 PMID:24416720 PMID:24448499 PMID:24451234 PMID:24556621 PMID:24628946 PMID:24643969 PMID:24728327 PMID:24733792 PMID:24763289 PMID:24789685 PMID:24853695 PMID:24951259 PMID:24970356 PMID:24983367 PMID:25032865 PMID:25037873 PMID:25040471 PMID:25042771 PMID:25058500 PMID:25077176 PMID:25117502 PMID:25122203 PMID:25133958 PMID:25148578 PMID:25151137 PMID:25182519 PMID:25186627 PMID:25232094 PMID:25318351 PMID:25320358 PMID:25326635 PMID:25326637 PMID:25330149 PMID:25374739 PMID:25428789 PMID:25452441 PMID:25460276 PMID:25479140 PMID:25480502 PMID:25502423 PMID:25503501 PMID:25523272 PMID:25525159 PMID:25572163 PMID:25587027 PMID:25589003 PMID:25614872 PMID:25625042 PMID:25741868 PMID:25793145 PMID:25877891 PMID:25914063 PMID:25925381 PMID:25925954 PMID:25938944 PMID:25957637 PMID:25980754 PMID:26009992 PMID:26010451 PMID:26022348 PMID:26053404 PMID:26094658 PMID:26182300 PMID:26193622 PMID:26206375 PMID:26220245 PMID:26246601 PMID:26247737 PMID:26270727 PMID:26296696 PMID:26296701 PMID:26344566 PMID:26380989 PMID:26439923 PMID:26467025 PMID:26483394 PMID:26506520 PMID:26530882 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26628246 PMID:26633542 PMID:26633545 PMID:26662178 PMID:26677768 PMID:26681312 PMID:26689913 PMID:26692440 PMID:26693373 PMID:26786923 PMID:26787654 PMID:26822949 PMID:26824983 PMID:26837699 PMID:26845104 PMID:26896183 PMID:26898890 PMID:26901136 PMID:26915675 PMID:26917275 PMID:26976419 PMID:27083775 PMID:27121310 PMID:27153395 PMID:27159176 PMID:27304073 PMID:27433846 PMID:27443514 PMID:27449771 PMID:27479817 PMID:27498913 PMID:27528516 PMID:27581129 PMID:27595995 PMID:27602502 PMID:27616075 PMID:27621404 PMID:27664052 PMID:27720647 PMID:27732944 PMID:27798748 PMID:27873105 PMID:27878467 PMID:27913932 PMID:27932211 PMID:27959900 PMID:27978560 PMID:27988859 PMID:27989354 PMID:28007021 PMID:28008555 PMID:28051113 PMID:28093192 PMID:28093616 PMID:28125075 PMID:28126470 PMID:28135145 PMID:28152038 PMID:28170084 PMID:28188106 PMID:28195393 PMID:28338653 PMID:28423363 PMID:28486781 PMID:28492532 PMID:28503720 PMID:28580595 PMID:28591191 PMID:28608266 PMID:28652578 PMID:28687356 PMID:28716242 PMID:28717660 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28779002 PMID:28825054 PMID:28828701 PMID:28843361 PMID:28873162 PMID:28875981 PMID:28975465 PMID:29036293 PMID:29058119 PMID:29141312 PMID:29263802 PMID:29335925 PMID:29356034 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29415044 PMID:29470806 PMID:29478780 PMID:29522266 PMID:29555025 PMID:29555771 PMID:29566657 PMID:29596542 PMID:29600275 PMID:29664460 PMID:29667044 PMID:29678143 PMID:29684080 PMID:29719442 PMID:29752822 PMID:29753700 PMID:29785153 PMID:29888287 PMID:29909963 PMID:29922827 PMID:29945567 PMID:29946849 PMID:29954938 PMID:29958926 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30128536 PMID:30197789 PMID:30214756 PMID:30253992 PMID:30256826 PMID:30287823 PMID:30303537 PMID:30322717 PMID:30363071 PMID:30374176 PMID:30426508 PMID:30447919 PMID:30504431 PMID:30549301 PMID:30579816 PMID:30607632 PMID:30620386 PMID:30651582 PMID:30723761 PMID:30730459 PMID:30814645 PMID:30819809 PMID:30851086 PMID:30883245 PMID:30927251 PMID:30982232 PMID:31050087 PMID:31054420 PMID:31101757 PMID:31118792 PMID:31125277 PMID:31139954 PMID:31159747 PMID:31160347 PMID:31206626 PMID:31216378 PMID:31248605 PMID:31273614 PMID:31325073 PMID:31341520 PMID:31407689 PMID:31617914 PMID:31731261 PMID:31780696 PMID:31843900 PMID:31871109 PMID:31919090 PMID:31920950 PMID:31921190 PMID:31948886 PMID:32039725 PMID:32068069 PMID:32125938 PMID:32183364 PMID:32295079 PMID:32566746 PMID:32601921 PMID:32658311 PMID:32832836 PMID:32860008 PMID:32906206 PMID:32986223 PMID:33280026 NCBI chr 8:57,983,168...58,012,474
Ensembl chr 8:57,983,556...58,011,962
JBrowse link
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11 MRE11 homolog, double strand break repair nuclease ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder
CTD
ClinVar
PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 PMID:10612394 PMID:11196167 PMID:11238951 PMID:11371508 PMID:12966088 PMID:14684699 PMID:14690604 PMID:15269180 PMID:16858402 PMID:17576681 PMID:19383352 PMID:20052722 PMID:20805886 PMID:21227757 PMID:22006311 PMID:22078559 PMID:22139912 PMID:22705791 PMID:22863007 PMID:23028188 PMID:23080121 PMID:23436002 PMID:23718828 PMID:23755103 PMID:23912341 PMID:24030952 PMID:24033266 PMID:24093751 PMID:24549055 PMID:24556621 PMID:24763289 PMID:24894818 PMID:25040471 PMID:25326635 PMID:25452441 PMID:25503501 PMID:25741868 PMID:26057807 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26633542 PMID:26680607 PMID:26757417 PMID:26786923 PMID:26787654 PMID:26845104 PMID:26878173 PMID:26898890 PMID:27153395 PMID:27329137 PMID:27433846 PMID:27621404 PMID:27783279 PMID:27878467 PMID:28051113 PMID:28125075 PMID:28152038 PMID:28202063 PMID:28486781 PMID:28492532 PMID:28524162 PMID:28559769 PMID:28699156 PMID:28849312 PMID:28873162 PMID:29170652 PMID:29348823 PMID:29371908 PMID:29752822 PMID:29922827 PMID:30093976 PMID:30441849 PMID:31159747 PMID:31273614 PMID:32566746 NCBI chr 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
JBrowse link
G Pcna proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
JBrowse link
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 ISO ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 3
ClinVar Annotator: match by OMIM:615217
OMIM
ClinVar
PMID:22065524 PMID:25741868 PMID:28492532 NCBI chr10:55,013,686...55,078,986
Ensembl chr10:55,013,703...55,080,421
JBrowse link
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 OMIM
ClinVar
PMID:10446192 PMID:18414213 PMID:20118933 PMID:22508754 PMID:23224214 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:27066567 PMID:28492532 PMID:29261713 PMID:29720203 PMID:30039206 PMID:31061747 NCBI chr 1:100,853,475...100,859,202
Ensembl chr 1:100,853,902...100,859,084
JBrowse link
Ataxia-Telangiectasia Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Ataxia-telangiectasia variant ClinVar PMID:8755918 PMID:8808599 PMID:9000145 PMID:9288106 PMID:9463314 PMID:9792410 PMID:9887333 PMID:10234507 PMID:10330348 PMID:11382771 PMID:11826028 PMID:11830610 PMID:14654357 PMID:15054841 PMID:15174027 PMID:16958054 PMID:17001622 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19535770 PMID:19781682 PMID:19823873 PMID:21787400 PMID:21792198 PMID:22345219 PMID:22529920 PMID:23143971 PMID:24088041 PMID:24733792 PMID:25037873 PMID:25040471 PMID:25077176 PMID:25186627 PMID:25525159 PMID:25741868 PMID:25914063 PMID:25980754 PMID:26506520 PMID:26633545 PMID:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27978560 PMID:27988859 PMID:28008555 PMID:28492532 PMID:28779002 PMID:29719442 PMID:30504431 PMID:30549301 PMID:30819809 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 ISO ClinVar Annotator: match by term: Ataxia-telangiectasia variant ClinVar PMID:8755918 PMID:8808599 PMID:9000145 PMID:9288106 PMID:9463314 PMID:9792410 PMID:9887333 PMID:10234507 PMID:10330348 PMID:11382771 PMID:11826028 PMID:11830610 PMID:14654357 PMID:15174027 PMID:16958054 PMID:17001622 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19781682 PMID:19823873 PMID:21787400 PMID:21792198 PMID:22345219 PMID:22529920 PMID:23143971 PMID:24088041 PMID:24733792 PMID:25037873 PMID:25040471 PMID:25077176 PMID:25186627 PMID:25741868 PMID:25914063 PMID:25980754 PMID:26506520 PMID:26633545 PMID:26681312 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27978560 PMID:27988859 PMID:28008555 PMID:28492532 PMID:28779002 PMID:29719442 PMID:30504431 PMID:30549301 NCBI chr 8:57,983,168...58,012,474
Ensembl chr 8:57,983,556...58,011,962
JBrowse link
Ataxia-Telangiectasia-Like Disorder 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1
ClinVar Annotator: match by OMIM:604391
OMIM
ClinVar
PMID:8445618 PMID:8684395 PMID:9845372 PMID:10612394 PMID:11196167 PMID:11238951 PMID:11371508 PMID:12966088 PMID:14684699 PMID:14690604 PMID:15269180 PMID:15574463 PMID:16858402 PMID:18652530 PMID:18854157 PMID:19383352 PMID:20052722 PMID:20805886 PMID:21227757 PMID:21252998 PMID:21324166 PMID:22006311 PMID:22078559 PMID:22139912 PMID:22705791 PMID:22863007 PMID:23080121 PMID:23436002 PMID:23718828 PMID:23755103 PMID:23912341 PMID:24030952 PMID:24033266 PMID:24332946 PMID:24549055 PMID:24733832 PMID:24763289 PMID:24894818 PMID:25040471 PMID:25326635 PMID:25452441 PMID:25503501 PMID:25741868 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26633542 PMID:26680607 PMID:26786923 PMID:26787654 PMID:26845104 PMID:26898890 PMID:27124789 PMID:27153395 PMID:27329137 PMID:27621404 PMID:27783279 PMID:27878467 PMID:28051113 PMID:28125075 PMID:28152038 PMID:28202063 PMID:28486781 PMID:28492532 PMID:28559769 PMID:28849312 PMID:29170652 PMID:29348823 PMID:29752822 PMID:29922827 PMID:30441849 PMID:31159747 PMID:32566746 NCBI chr 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
JBrowse link
Ataxia-Telangiectasia-Like Disorder 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcna proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 OMIM
ClinVar
PMID:24911150 PMID:25741868 NCBI chr 3:124,880,698...124,884,570
Ensembl chr 3:124,880,698...124,884,570
JBrowse link
background diabetic retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin treatment ISO RGD PMID:10848441 RGD:10046010 NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G Cat catalase ISO associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum: RGD PMID:24092995 RGD:9068931 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:decreased expression:aqueous humor: RGD PMID:23853629 RGD:10402120 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:decreased expression:vitreous: RGD PMID:19799585 RGD:10449447 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
central retinal vein occlusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:20688738 RGD:11100028 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link
G Serpinf1 serpin family F member 1 IEP protein:increased expression:neuroretina (rat) RGD PMID:21487926 RGD:5490120 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22267198 PMID:22387016 PMID:23869908 PMID:24033266 PMID:25182133 PMID:25741868 PMID:28492532 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar
PMID:16943371 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25741868 PMID:28492532 PMID:29228254 PMID:29481669 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2
ClinVar
OMIM
PMID:25741868 PMID:27432940 PMID:28492532 NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729
JBrowse link
Cleft Palate, Proliferative Retinopathy, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc32 leucine rich repeat containing 32 ISO ClinVar Annotator: match by term: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY ClinVar
OMIM
PMID:30976112 NCBI chr 1:163,443,972...163,457,426
Ensembl chr 1:163,445,527...163,457,424
JBrowse link
Coats disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:14507768 PMID:15035989 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 NCBI chr 1:153,589,471...153,598,376
Ensembl chr 1:153,589,471...153,598,375
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Coats disease ClinVar PMID:26908610 NCBI chr  X:6,791,090...6,815,586
Ensembl chr  X:6,791,136...6,815,583
Ensembl chr  X:6,791,136...6,815,583
JBrowse link
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:25741868 PMID:30459466 NCBI chr18:31,415,533...31,431,108
Ensembl chr18:31,414,250...31,430,973
JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:14507768 PMID:15035989 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 NCBI chr 1:153,732,528...153,742,111
Ensembl chr 1:153,732,532...153,752,541
JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Coats disease
ClinVar Annotator: match by term: Exudative retinopathy
ClinVar PMID:26908610 PMID:28492532 PMID:31494449 NCBI chr15:39,622,572...39,665,335
Ensembl chr15:39,638,510...39,669,473
JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:25741868 NCBI chr 4:147,832,136...147,837,298
Ensembl chr 4:147,832,136...147,837,298
JBrowse link
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpc centromere protein C ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr14:23,611,909...23,670,314
Ensembl chr14:23,611,735...23,670,475
JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
Cutaneous Telangiectasia and Cancer Syndrome, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by OMIM:614564 OMIM
ClinVar
PMID:22341969 NCBI chr 8:103,673,578...103,770,886
Ensembl chr 8:103,673,411...103,770,947
JBrowse link
diabetic angiopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO ClinVar Annotator: match by term: END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO ClinVar
OMIM
PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 PMID:2847529 PMID:2849100 PMID:7593601 PMID:7729604 PMID:7854377 PMID:7909524 PMID:8131299 PMID:8131300 PMID:8136829 PMID:8170965 PMID:8208911 PMID:8298638 PMID:8314010 PMID:8541160 PMID:8644984 PMID:8675669 PMID:9120002 PMID:9236417 PMID:9259580 PMID:9699903 PMID:9737775 PMID:9916793 PMID:10099885 PMID:10636736 PMID:10643899 PMID:10841123 PMID:11687636 PMID:11956052 PMID:12220450 PMID:12666117 PMID:14657821 PMID:14872014 PMID:15110771 PMID:15277638 PMID:15381116 PMID:15531537 PMID:15534175 PMID:15635071 PMID:19221299 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Adcy3 adenylate cyclase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr 6:28,570,941...28,648,848
Ensembl chr 6:28,571,351...28,650,148
JBrowse link
G Adcy8 adenylate cyclase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr 7:105,353,883...105,593,372
Ensembl chr 7:105,353,913...105,592,804
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20372816 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19733855 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:25033204 NCBI chr 3:10,327,411...10,375,847
Ensembl chr 3:10,327,414...10,375,826
JBrowse link
G Bdkrb1 bradykinin receptor B1 IMP RGD PMID:15878326 RGD:7241570 NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 treatment IDA associated with Diabetes Mellitus, Experimental RGD PMID:23154660 RGD:11526153 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Cd28 Cd28 molecule ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:T cell RGD PMID:15504310 RGD:2307197 NCBI chr 9:67,546,408...67,573,858
Ensembl chr 9:67,546,408...67,571,871
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum RGD PMID:14963650 RGD:2314223 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Crem cAMP responsive element modulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr17:57,021,704...57,090,888
Ensembl chr17:57,031,766...57,090,888
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 susceptibility ISO associated with Diabetic Foot;DNA:polymorphism:3' utr (human) RGD PMID:16723689 RGD:2306558 NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
JBrowse link
G Epo erythropoietin ISO ClinVar Annotator: match by OMIM:612623 OMIM
ClinVar
PMID:18458324 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G F3 coagulation factor III, tissue factor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent
protein:increased expression:plasma
RGD PMID:16371118, PMID:9285207 RGD:2313861, RGD:2313868 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G Fas Fas cell surface death receptor ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:15803113 RGD:2315753 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO associated with Diabetes Mellitus, Non-Insulin-Dependent
CTD Direct Evidence: marker/mechanism
CTD PMID:25381014, PMID:15803113 RGD:2315753 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fn1 fibronectin 1 IDA RGD PMID:12716757 RGD:1601179 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO RGD PMID:21411989 RGD:7242686 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO cardiovascular complications in type 2 diabetics RGD PMID:16338763 RGD:1600708 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gsr glutathione-disulfide reductase ISO cardiovascular complications in type 2 diabetics RGD PMID:16338763 RGD:1600708 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO OMIM
ClinVar
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:8943161 PMID:9024376 PMID:9106528 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9585606 PMID:9851896 PMID:9851897 PMID:10381492 PMID:10401000 PMID:10431233 PMID:11358905 PMID:11399207 PMID:11423500 PMID:11479183 PMID:11532995 PMID:11812557 PMID:11874997 PMID:11904676 PMID:12241803 PMID:12429850 PMID:12436244 PMID:12885340 PMID:12915468 PMID:14618419 PMID:14673107 PMID:14729817 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15858186 PMID:16132052 PMID:16879202 PMID:17389307 PMID:17450498 PMID:17600748 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19444013 PMID:19554541 PMID:19560233 PMID:20301613 PMID:21243428 PMID:21349849 PMID:21452290 PMID:22531912 PMID:23429074 PMID:24033266 PMID:24729993 PMID:25457201 PMID:25741868 PMID:25741869 PMID:25850353 PMID:26153218 PMID:26365338 PMID:27124787 PMID:28443246 PMID:28492532 PMID:28617828 PMID:30291871 PMID:31220083 PMID:31980526 PMID:32153640 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16959961 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hp haptoglobin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16597321 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Icam1 intercellular adhesion molecule 1 IDA
ISO
associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Experimental;mRNA:increased expression:aorta
RGD PMID:18796303, PMID:18093596 RGD:2313473, RGD:2306988 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Igfbp1 insulin-like growth factor binding protein 1 ISO DNA:SNPs RGD PMID:16306374 RGD:1625238 NCBI chr14:87,448,716...87,453,783
Ensembl chr14:87,448,692...87,453,785
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO ClinVar Annotator: match by OMIM:612628 OMIM
ClinVar
PMID:8500797 PMID:8786086 PMID:10025794 PMID:10746728 PMID:10750554 PMID:15286433 PMID:16636119 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Mmp14 matrix metallopeptidase 14 ISO RGD PMID:12477149 RGD:1582581 NCBI chr15:33,074,441...33,083,666
Ensembl chr15:33,074,441...33,083,655
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16681562 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nos2 nitric oxide synthase 2 IEP
IMP
associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea RGD PMID:19241604, PMID:19587355 RGD:4891384, RGD:2313210 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Nos3 nitric oxide synthase 3 treatment IEP
ISO
associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea
CTD Direct Evidence: marker/mechanism
CTD PMID:12124201, PMID:19241604, PMID:29329611 RGD:4891384, RGD:13504708 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO associated with Diabetes Mellitus, Experimental;protein:increased tyrosine phosphorylation:conceptus RGD PMID:10329590 RGD:2311657 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Plat plasminogen activator, tissue type ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:18945481 RGD:2311663 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO ClinVar PMID:11978667 NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
JBrowse link
G Pon1 paraoxonase 1 ISO associated with Diabetes Mellitus;DNA:polymorphisms: p.L55M, p.Q192R (human)
ClinVar Annotator: match by OMIM:612633
ClinVar
OMIM
PMID:9011577 PMID:9661650 PMID:11335891 PMID:11788650 PMID:11889198 PMID:11918623, PMID:17949258 RGD:2313270 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Ptk2b protein tyrosine kinase 2 beta treatment IDA associated with Diabetes Mellitus, Type 2 RGD PMID:21926342 RGD:10041069 NCBI chr15:42,827,306...42,947,796
Ensembl chr15:42,827,310...42,947,656
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO associated with Diabetes Mellitus Type 1;DNA:polymorphism: :HLA-DRB1*03:01(human) RGD PMID:23376458 RGD:7365114 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO associated with Diabetes Mellitus, Type 2;DNA:deletion, haplotype:promoter:g.-676_-674delG (human) RGD PMID:9844142 RGD:8547700 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinf1 serpin family F member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Sod1 superoxide dismutase 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:16338763 RGD:1600708 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO ClinVar Annotator: match by term: NEPHROPATHY, DIABETIC, SUSCEPTIBILITY TO OMIM
ClinVar
PMID:8633092 PMID:10425186 PMID:12624725 PMID:15591282 PMID:16538174 PMID:17192491 PMID:19509150 PMID:22992668 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Sparc secreted protein acidic and cysteine rich IEP associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:mesentery, blood vessel RGD PMID:10625572 RGD:2300063 NCBI chr10:40,742,390...40,764,232
Ensembl chr10:40,742,400...40,764,185
JBrowse link
G Thbs1 thrombospondin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr 3:109,862,120...109,873,466
Ensembl chr 3:109,862,117...109,873,466
JBrowse link
G Thbs2 thrombospondin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25381014 NCBI chr 1:56,653,929...56,683,571
Ensembl chr 1:56,653,938...56,683,731
JBrowse link
G Tnf tumor necrosis factor susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:c.-308G>A (human) RGD PMID:18575614 RGD:2313255 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vegfa vascular endothelial growth factor A IEP
ISO
protein:increased expression:cochlea:
ClinVar Annotator: match by term: PROLIFERATIVE RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO
OMIM
ClinVar
PMID:11978667, PMID:19241604 RGD:4891384 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
Diabetic Foot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:20836881 RGD:5686889 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO associated with Diabetes Mellitus, Type 2;protein:decreased expression:blood RGD PMID:21941211 RGD:6767555 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Crp C-reactive protein disease_progression ISO protein:increased expression:blood: RGD PMID:22712631 RGD:6906887 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO protein:increased expression:dermis RGD PMID:22455314 RGD:7207269 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B severity ISO DNA:polymorphism: :1538G>A (human) RGD PMID:19731315 RGD:8662463 NCBI chr20:4,877,638...4,880,112
Ensembl chr20:2,699,712...2,701,815
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased expression:fibroblast of dermis,stratum basale of epidermis: RGD PMID:10727985 RGD:8549356 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Il15 interleukin 15 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:dermis, endothelial cell RGD PMID:17014667 RGD:2313575 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
JBrowse link
G Mbl2 mannose binding lectin 2 ISO protein:increased expression:serum: RGD PMID:19997692 RGD:8694068 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:22688339 RGD:8547813 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Plat plasminogen activator, tissue type ISO RGD PMID:17275886 RGD:2311669 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Ptx3 pentraxin 3 ISO protein:decreased expression:plasma (human) RGD PMID:30767386 RGD:38501100 NCBI chr 2:158,097,843...158,103,653
Ensembl chr 2:158,097,843...158,103,653
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:SNPs,haplotype: :rs4986790,rs4986791,rs10759931,rs1927911(human); RGD PMID:23936790 RGD:7777174 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
diabetic retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme susceptibility
no_association
ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:exon:g.2350G>A (rs4343) (human)
associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human)
associated with Diabetes Mellitus, Type 2;DNA:deletion:intron:IVS16+1464-1751del (human)
GAD
RGD
PMID:15118671, PMID:2157294, PMID:23065222, PMID:7729604, PMID:11106834 RGD:1331525, RGD:8142360, RGD:7829794, RGD:7829780, RGD:7829783 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Ace2 angiotensin I converting enzyme 2 treatment ISO associated with Diabetes Mellitus, Experimental
human gene in a mouse model
CTD Direct Evidence: therapeutic
CTD PMID:31380462, PMID:21792177, PMID:31380462 RGD:8548900, RGD:40818278 NCBI chr  X:32,050,734...32,095,860
Ensembl chr  X:32,049,931...32,096,016
JBrowse link
G Acp1 acid phosphatase 1 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:12495297 RGD:2313184 NCBI chr 6:49,836,064...49,851,714
Ensembl chr 6:49,836,075...49,851,714
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing disease_progression ISO associated with Diabetes Mellitus, Type 2;DNA:SNP: :g.45T>G (human)
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
RGD PMID:24655058, PMID:17970779 RGD:8694412, RGD:8694475 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Adm adrenomedullin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:19216096 RGD:2313312 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:9313761 RGD:5684400 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Ager advanced glycosylation end product-specific receptor no_association
treatment
severity
susceptibility
ISO
IDA
IEP
associated with Diabetes Mellitus, Type 2;DNA:polymorphisms: :p.G82S, 1704G>T, 2184A>G (human)
associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Type 2;DNA:SNP: :2245G>A (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-429T>C (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A, - 429T>C (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A (human)
associated with Diabetes Mellitus, Type 1;DNA:SNP:promoter:-374T>A (human)
protein:increased expression:retina inner nuclear layer, retinal ganglion cell (rat)
associated with Diabetes Mellitus, Type 2;DNA:polymorphisms:promoter, cds, intron:g.-443T>C, p.G82S, g.1704G>T (rs1800625, rs2070600, rs184003) (human)
associated with Diabetes Mellitus, Type 2;DNA:missense mutation, snp, haplotype:cds, intron:p.G82S, g.1704G>T (human)
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
GAD
RGD
PMID:15118671, PMID:22427038, PMID:22171162, PMID:22116960, PMID:11375354, PMID:14704946, PMID:16969646, PMID:16969646, PMID:23146804, PMID:23587252, PMID:22475522, PMID:19542745, PMID:23091285 RGD:1331525, RGD:8695983, RGD:8695979, RGD:8695967, RGD:8695966, RGD:8695965, RGD:8695958, RGD:8695958, RGD:7244369, RGD:7244248, RGD:7244176, RGD:7244175, RGD:7244174 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Agt angiotensinogen treatment ISO
IMP
associated with Diabetes Mellitus, Type 1;DNA:polymorphism: :p.M235T (human)
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Experimental
CTD PMID:15387897, PMID:10862638, PMID:21792177 RGD:8548872, RGD:8548900 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:16601577 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B no_association
susceptibility
IDA
IEP
ISO
associated with Diabetes Mellitus, Experimental
protein:increased expression:retinal astrocyte (rat)
associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.-2008(AC)n (rs35839483) (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:g.-106C>T (human)
associated with Diabetes Mellitus;DNA:repeats, snp:promoter:multiple (human)
RGD PMID:17003340, PMID:8150024, PMID:21067572, PMID:16701918, PMID:19587357 RGD:1626080, RGD:8548684, RGD:8548676, RGD:8548668, RGD:8548640 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
JBrowse link
G Akt1 AKT serine/threonine kinase 1 IEP mRNA, protein:increased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Ang angiogenin ISO associated with Diabetes Mellitus, Type 2;protein:decreased tyrosine phosphorylation:vitreous humor RGD PMID:18978347 RGD:2307061 NCBI chr15:28,022,926...28,028,636 JBrowse link
G Angpt1 angiopoietin 1 ISO associated with Diabetes Mellitus, Experimental RGD PMID:12000720 RGD:2313818 NCBI chr 7:81,338,327...81,592,459
Ensembl chr 7:81,342,280...81,592,206
JBrowse link
G Angpt2 angiopoietin 2 IEP
IDA
protein:increased expression:retina (rat) RGD PMID:16520919, PMID:16520919 RGD:2314216, RGD:2314216 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G Aoc3 amine oxidase, copper containing 3 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:11522499 RGD:2313826 NCBI chr10:89,251,370...89,259,313
Ensembl chr10:89,251,370...89,259,313
JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:vitreous humor (human) RGD PMID:19081814 RGD:5685692 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Apob apolipoprotein B ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:19448981 RGD:2313976 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
JBrowse link
G Apoc3 apolipoprotein C3 severity ISO protein:increased expression:serum RGD PMID:15642486 RGD:2306768 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Apoe apolipoprotein E susceptibility
no_association
ISO associated with Diabetic Mellitus type 2;DNA:polymorphism:exon: RGD PMID:16862278, PMID:11495633 RGD:7771557, RGD:7771553 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Apoh apolipoprotein H ISO protein:increased expression:vitreous humor RGD PMID:18695102 RGD:2313982 NCBI chr10:96,640,013...96,653,939
Ensembl chr10:96,639,924...96,653,938
JBrowse link
G Aqp4 aquaporin 4 IMP RGD PMID:22449442 RGD:8695996 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Bdkrb1 bradykinin receptor B1 treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:18311190 RGD:2313334 NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
JBrowse link
G Bdnf brain-derived neurotrophic factor IEP associated with Diabetes Mellitus, Experimental;protein:decreased expression:retina: RGD PMID:15331553 RGD:8655657 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Casp3 caspase 3 IEP
ISO
associated with Diabetes Mellitus, Experimental;protein:increased expresssion:retina
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Non-Insulin-Dependent
CTD PMID:20654064, PMID:19187597, PMID:19013511 RGD:2311444, RGD:2311448 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Casp9 caspase 9 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased activation:retina RGD PMID:18369072 RGD:2311244 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778
JBrowse link
G Cat catalase IEP protein:decreased expression:retina RGD PMID:21314438 RGD:5130875 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina (rat) RGD PMID:23010641 RGD:8548887 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 severity ISO protein:increased expression:serum
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor
RGD PMID:16249511, PMID:18978347 RGD:2307104, RGD:2307061 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Ccn2 cellular communication network factor 2 IEP associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat) RGD PMID:19450451 RGD:2314507 NCBI chr 1:21,851,657...21,854,773
Ensembl chr 1:21,851,660...21,854,773
JBrowse link
G Ccr5 C-C motif chemokine receptor 5 ISO associated with Diabetes Mellitus, Experimental RGD PMID:22677420 RGD:8551828 NCBI chr 8:133,192,398...133,215,599
Ensembl chr 8:133,197,032...133,215,614
JBrowse link
G Cd34 CD34 molecule IEP mRNA, protein:increased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr13:113,691,842...113,711,259
Ensembl chr13:113,691,932...113,711,647
JBrowse link
G Cd59 CD59 molecule IEP protein:decreased expression:retina RGD PMID:12453906 RGD:1600487 NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
JBrowse link
G Cfb complement factor B no_association ISO associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs1048709 (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs537160, rs4151657, rs2072633 (human)
RGD PMID:23864767, PMID:23864767 RGD:7365019, RGD:7365019 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Cfh complement factor H ISO associated with Diabetes Mellitus, Type 2; DNA:SNP: :rs800292(human)
associated with Diabetes Mellitus, Type 1;DNA:SNP: :rs1410996(human)
RGD PMID:23864767, PMID:23296223 RGD:7365019, RGD:7365023 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
G Cldn1 claudin 1 treatment IEP RGD PMID:25685822 RGD:11341734 NCBI chr11:77,815,216...77,830,373
Ensembl chr11:77,815,181...77,830,416
JBrowse link
G Clu clusterin treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:19875648 RGD:9068395 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
CTD PMID:20012460, PMID:20012460 RGD:8547537 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO RGD PMID:17194635 RGD:2311361 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 severity ISO protein:increased expression:vitreous humor RGD PMID:15630447 RGD:2306559 NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
JBrowse link
G Cyba cytochrome b-245 alpha chain IEP associated with Diabetes Mellitus, Experimental RGD PMID:19685553 RGD:2317854 NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Edn1 endothelin 1 ISO
IEP
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:exon:p.K198N (human)
mRNA:increased expression:retina (rat)
associated with Diabetes Mellitus, Insulin-Dependent;protein:increased secretion:plasma
RGD PMID:18806884, PMID:20628425, PMID:19293263 RGD:2313281, RGD:9068929, RGD:2313279 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Egfr epidermal growth factor receptor treatment ISO protein:increased expression:retina
associated with Diabetes Mellitus, Experimental
RGD PMID:7947554, PMID:23831329 RGD:1580957, RGD:10059675 NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
JBrowse link
G Eln elastin ISO RGD PMID:11707314 RGD:9585734 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Eng endoglin ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma,vitreous body RGD PMID:16202216 RGD:1580961 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Ep300 E1A binding protein p300 IMP associated with Diabetes Mellitus, Experimental RGD PMID:21885871 RGD:7349382 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Epo erythropoietin susceptibility ISO protein:increased expression:serum,vitreous body
associated with Diabetes Mellitus, Experimental
DNA:snp:promoter:-1125T>G(rs1617640)(human)
RGD PMID:18670462, PMID:24508793, PMID:18235022, PMID:18458324 RGD:2313837, RGD:10400906, RGD:2313890, RGD:2313838 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
G F13a1 coagulation factor XIII A1 chain ISO protein:increased expression:optic choroid vascular plexus: RGD PMID:11375345 RGD:8693344 NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:aqueous humor,serum RGD PMID:12417540 RGD:2313865 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
JBrowse link
G F7 coagulation factor VII ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:10837382 RGD:2312398 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO
IEP
associated with Pregnancy in Diabetics
DNA:polymorphism:intron:g.754C>G(human)
DNA:polymorphism:promotor:g.-553T>A(human)
associated with Diabetes Mellitus, Experimental
RGD PMID:9141532, PMID:17997184, PMID:18279437, PMID:14975211 RGD:2315885, RGD:2315845, RGD:2315844, RGD:2315875 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 treatment ISO
IEP
RGD PMID:17143550, PMID:18174522 RGD:2313721, RGD:10402119 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Fuca1 alpha-L-fucosidase 1 IEP associated with Diabetes Mellitus, Experimental;protein:increased activity:retina RGD PMID:10353622 RGD:2315932 NCBI chr 5:154,269,296...154,286,545
Ensembl chr 5:154,269,118...154,286,544
JBrowse link
G Gad2 glutamate decarboxylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21412422 NCBI chr17:89,171,576...89,234,770
Ensembl chr17:89,171,250...89,238,040
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase IEP associated with Diabetes Mellitus, Experimental RGD PMID:18852331 RGD:2315975 NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
JBrowse link
G Gc GC, vitamin D binding protein ISO protein:increased expression:vitreous body RGD PMID:16080911 RGD:2315548 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum RGD PMID:11311965 RGD:2315614 NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
JBrowse link
G Gh1 growth hormone 1 ISO RGD PMID:3183302 RGD:2315688 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Glo1 glyoxalase 1 no_association ISO DNA:SNP:promoter:-7C>T (human) RGD PMID:21738003, PMID:21738003 RGD:7242569, RGD:7242569 NCBI chr20:9,273,589...9,291,608
Ensembl chr20:9,273,594...9,291,610
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO associated with Diabetes Mellitus, Type 1;DNA:deletion:cds (human) RGD PMID:19752172 RGD:7495818 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 disease_progression
no_association
ISO associated with Diabetes Mellitus, Type 2;DNA:deletion:cds (human)
associated with Diabetes Mellitus, Type 1;DNA:deletion:cds (human)
RGD PMID:15927971, PMID:19752172 RGD:2306630, RGD:7495818 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Hfe homeostatic iron regulator ISO associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y (human) RGD PMID:15347835 RGD:8694362 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Hgf hepatocyte growth factor disease_progression ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum RGD PMID:18335393, PMID:15525877 RGD:2313565, RGD:8548539 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha severity
treatment
ISO
IDA
IEP
protein:increased expression:retina, vascular endothelial cell (human)
associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Experimental;protein:increased expression:retina (rat)
RGD PMID:17229797, PMID:20515763, PMID:22110070 RGD:8694462, RGD:8696025, RGD:7364887 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Hras HRas proto-oncogene, GTPase IDA RGD PMID:14988264 RGD:1358731 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO
IEP
CTD Direct Evidence: therapeutic
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K469E (human)
CTD PMID:10485912, PMID:18834676, PMID:25066112, PMID:18942221 RGD:2313472, RGD:11354984, RGD:2313471 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility ISO protein:decreased expression:serum RGD PMID:16873705, PMID:17194636 RGD:1598424, RGD:2313764 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf1r insulin-like growth factor 1 receptor disease_progression IEP mRNA:increased expression:retina: RGD PMID:12781065 RGD:10046008 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Il10 interleukin 10 susceptibility ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor
associated with Diabetes Mellitus, Type 2
RGD PMID:18978347, PMID:22105495, PMID:18988929, PMID:16696964 RGD:2307061, RGD:7364856, RGD:2307272, RGD:1598486 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il18 interleukin 18 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:19011009, PMID:16260350 RGD:4889417, RGD:8655907 NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
JBrowse link
G Il1a interleukin 1 alpha ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor RGD PMID:18978347 RGD:2307061 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO associated with Diabetes Mellitus, Type 2; protein:decreased tyrosine phosphorylation:vitreous humor
protein:increased expression:serum, vitreous humour
RGD PMID:18978347, PMID:16284605 RGD:2307061, RGD:7401212 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 susceptibility ISO associated with Diabetes Mellitus; DNA:polymorphism:promoter:-174G>C (human)
associated with Diabetes Mellitus, Type1;DNA:polymorphism:promoter:-174G>C(human)
associated with Diabetes Mellitus, Typpe 1;protein:increased expression:serum:
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)
RGD PMID:19140096, PMID:19542902, PMID:17725274, PMID:18988929 RGD:2307267, RGD:7829816, RGD:7829749, RGD:2307272 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30463601, PMID:22046295 RGD:6902909 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Itga2 integrin subunit alpha 2 severity
no_association
susceptibility
ISO associated with Diabetes Mellitus; DNA:transition:cds:807C>T (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:cds:c.807T>C (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS8-1059T>C (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS7+3160A>G (human)
RGD PMID:12540964, PMID:21632096, PMID:18806884, PMID:23776381 RGD:2307419, RGD:8686431, RGD:2313281, RGD:7777103 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Itga4 integrin subunit alpha 4 treatment IMP associated with Diabetes Mellitus, Experimental RGD PMID:19553613 RGD:9698417 NCBI chr 3:66,178,745...66,265,547
Ensembl chr 3:66,193,059...66,263,960
JBrowse link
G Itgb3 integrin subunit beta 3 ISO protein:increased expression:optic choroid vascular plexus: RGD PMID:11375345 RGD:8693344 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 treatment IDA
IEP
associated with Diabetes Mellitus, Experimental RGD PMID:21672350, PMID:22143324 RGD:8662869, RGD:8662907 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Kdm1a lysine demethylase 1A IEP
ISO
mRNA, protein:increased expression:retina (rat)
mRNA:increased expression:retina (human)
RGD PMID:23423566, PMID:23423566, PMID:23423566 RGD:8547881, RGD:8547881, RGD:8547881 NCBI chr 5:154,909,003...154,965,171
Ensembl chr 5:154,909,003...154,965,171
JBrowse link
G Keap1 Kelch-like ECH-associated protein 1 IEP associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina RGD PMID:23633659 RGD:10412733 NCBI chr 8:22,250,518...22,259,868
Ensembl chr 8:22,250,518...22,259,779
JBrowse link
G Lta lymphotoxin alpha no_association
susceptibility
ISO associated with Diabetes Mellitus, Type 2;DNA:polymorphism:intron, exon:252A>G, 804C>A (human) RGD PMID:16979413, PMID:11399938 RGD:8548772, RGD:8548797 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677
JBrowse link
G Mfn2 mitofusin 2 IEP associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression:retina (rat) RGD PMID:28487236 RGD:12910715 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mir21 microRNA 21 IEP RNA:increased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:plasma RGD PMID:12714657, PMID:18552985 RGD:1582582, RGD:8547849 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Type 2
RGD PMID:16643893, PMID:21933988, PMID:10374894 RGD:1582616, RGD:8547857, RGD:8547815 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) RGD PMID:9040583 RGD:6893525 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mysm1 myb-like, SWIRM and MPN domains 1 susceptibility ISO associated with Diabetes Mellitus, Type 2;DNA:snps:introns: IVS1-1269C>T, IVS6+1700G>A (rs2811893, rs12092121) (human) RGD PMID:21310492 RGD:9589162 NCBI chr 5:113,902,115...113,939,083
Ensembl chr 5:113,906,803...113,939,127
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 IDA associated with Diabetes Mellitus, Experimental;protein:decreased activity:retina RGD PMID:23633659 RGD:10412733 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996
JBrowse link
G Ngf nerve growth factor ISO protein:increased expression:serum RGD PMID:18282491 RGD:7242804 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Nos1 nitric oxide synthase 1 IEP mRNA, protein:decreased expression:retina RGD PMID:17545029 RGD:1642141 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
JBrowse link
G Nos3 nitric oxide synthase 3 no_association
susceptibility
treatment
severity
onset
ISO
IDA
IEP
associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:exon:c.894G>T (human)
associated with Diabetes Mellitus, Type 2;DNA:snps, duplication, haplotype:promoter, cds, intron:g.-786T>C, p.E298N, IVS4?-?+27 (human)
associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina (rat)
DNA:snps:promoter, exon:c.-786T>C, c.774C>T (human)
associated with Diabetes Mellitus, Type 1;DNA:duplication:intron:IVS4?-?+27 (human)
RGD PMID:16581274, PMID:23776381, PMID:22017289, PMID:17558849, PMID:18840783, PMID:23059402, PMID:20435587, PMID:15890549, PMID:17973941, PMID:11918626 RGD:7421531, RGD:7777103, RGD:7777101, RGD:7775042, RGD:7771606, RGD:7771569, RGD:7771568, RGD:7771565, RGD:7421533, RGD:7421532 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Nppa natriuretic peptide A ISO protein:increased expression:vitreous humor RGD PMID:15273657 RGD:2313589 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
JBrowse link
G Npr3 natriuretic peptide receptor 3 IEP mRNA:decreased expression:retina (rat) RGD PMID:15789000 RGD:1580773 NCBI chr 2:61,883,946...61,950,291
Ensembl chr 2:61,888,950...61,949,926
JBrowse link
G Nutf2 nuclear transport factor 2 treatment ISO
IDA
mRNA:decreased expression:peripheral blood: RGD PMID:19404486, PMID:19404486 RGD:9831377, RGD:9831377 NCBI chr19:37,830,917...37,852,192
Ensembl chr19:37,830,917...37,852,189
JBrowse link
G Ocln occludin treatment IEP RGD PMID:25685822 RGD:11341734 NCBI chr 2:30,527,327...30,577,218
Ensembl chr 2:30,527,715...30,577,218
JBrowse link
G Pgf placental growth factor IEP associated with Diabetes Mellitus, Type 2 RGD PMID:21408222 RGD:6483775 NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma IEP mRNA, protein:increased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:polymorphism:promoter:g.-907C>G (human)
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus;DNA:missense mutation:cds:p.L55M (rs854560) (human)
associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human)
associated with Diabetes Mellitus, Type 1;protein:decreased activity:serum (human)
CTD PMID:9661650 PMID:20012460, PMID:16949520, PMID:24100645, PMID:15270786, PMID:20012460 RGD:2313272, RGD:8547572, RGD:8547548, RGD:8547537 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO Retinal Leukostasis;associated with Diabetes Mellitus, Experimental RGD PMID:17003451 RGD:8552824 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IDA
IEP
associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat) RGD PMID:20566666, PMID:22003111 RGD:6484532, RGD:5686899 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Pten phosphatase and tensin homolog IEP mRNA, protein:decreased expression:retina RGD PMID:31759996 RGD:41410819 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Retn resistin ISO associated with Diabetes Mellitus, Type 2 RGD PMID:17303077 RGD:7207162 NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility
severity
ISO associated with Diabetes Mellitus, Type 1;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0501, HLA-DQB1*0504 (human)
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0201, HLA-DQB1*0302 (human)
RGD PMID:19551681, PMID:8932997 RGD:7421552, RGD:7483573 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility ISO associated with Diabetes Mellitus, Type 1; DNA:polymorphisms:cds:HLA-B*49 (human) RGD PMID:22981956 RGD:7365095
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO associated with Diabetes Mellitus Type 1;DNA:polymorphism::DRB1*0301,DRB1*0402(human) RGD PMID:23837223 RGD:7365113 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Serpina4 serpin family A member 4 ISO protein:decreased expression:vitreous fluid (human) RGD PMID:8950506 RGD:1580289 NCBI chr 6:127,743,883...127,753,047
Ensembl chr 6:127,743,971...127,753,046
JBrowse link
G Serpine1 serpin family E member 1 susceptibility
no_association
ISO associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human)
associated with Diabetes Mellitus, Type 2;DNA:snp, deletion:promoter:g.-844G>A, g.-676_-674delG (human)
associated with Diabetes Mellitus;repeat, snp:intron, 3' utr:g.7844(CA)1-6, ? (human)
associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human)
RGD PMID:23281898, PMID:19419896, PMID:7974340, PMID:9201602, PMID:12660488 RGD:8547697, RGD:8547741, RGD:8547740, RGD:8547710, RGD:8547699 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinf1 serpin family F member 1 severity ISO
IEP
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNPs:promoter:g.-5740T>C, g.-5308G>A (rs12150053, rs12948385) (human)
protein:increased expression:vitreous humor
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:retina
associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum
protein:alternative form:vitreous humor
RGD PMID:17658465, PMID:15059706, PMID:18025835, PMID:16054135, PMID:18455830, PMID:19365032 RGD:2312346, RGD:1580135, RGD:2312344, RGD:2312348, RGD:2312341, RGD:2312337 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Sgf29 SAGA complex associated factor 29 severity ISO associated with Diabetes Mellitus, Type 1; DNA:SNP:intron: rs10521145(human) RGD PMID:21441570 RGD:9587455 NCBI chr 1:198,066,974...198,100,494
Ensembl chr 1:198,067,066...198,100,493
JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894401 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199
JBrowse link
G Sod1 superoxide dismutase 1 ISO human gene in a mouse model
CTD Direct Evidence: therapeutic
CTD PMID:19074809, PMID:19074809 RGD:8655572 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod3 superoxide dismutase 3 ISO RGD PMID:12663605 RGD:1581298 NCBI chr14:60,958,583...60,971,143
Ensembl chr14:60,958,592...60,964,324
JBrowse link
G Thbs1 thrombospondin 1 IEP
ISO
associated with Diabetes Mellitus, Experimental
CTD Direct Evidence: marker/mechanism
CTD PMID:17117553, PMID:17117553 RGD:2317943 NCBI chr 3:109,862,120...109,873,466
Ensembl chr 3:109,862,117...109,873,466
JBrowse link
G Timm44 translocase of inner mitochondrial membrane 44 IEP associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina RGD PMID:22003103 RGD:13463597 NCBI chr12:2,517,006...2,533,707
Ensembl chr12:2,517,006...2,533,706
JBrowse link
G Tlr4 toll-like receptor 4 onset ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.N299G (human) RGD PMID:19135114 RGD:2312487 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor no_association
disease_progression
ISO associated with Diabetes Mellitus, Type 2
associated with Diabetes Mellitus, Type 2;DNA:polymorphism:promoter:-302A>G (human)
protein:increased expression:serum, vitreous humour
associated with Diabetes Mellitus, Type 1;protein:increased expression:platelet:
RGD PMID:22105495, PMID:16979413, PMID:16284605, PMID:10540181 RGD:7364856, RGD:8548772, RGD:7401212, RGD:7394805 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Uts2 urotensin 2 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:18338983 RGD:2306795 NCBI chr 5:168,078,748...168,084,133
Ensembl chr 5:168,078,748...168,084,145
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor, serum RGD PMID:19237221 RGD:2312762 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vdr vitamin D receptor ISO RGD PMID:15899948 RGD:1580363 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vegfa vascular endothelial growth factor A ISO
IEP
mRNA, protein:increased expression:retina
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, type 2; protein:increased expression:aqueous humor of eyeball:
CTD PMID:11978667 PMID:15788408 PMID:20577866, PMID:17513698, PMID:31759996, PMID:9852717, PMID:16636650 RGD:2301992, RGD:41410819, RGD:8547996, RGD:1580565 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vtn vitronectin ISO
IEP
associated with Diabetes Mellitus, Experimental RGD PMID:7536680, PMID:8804356 RGD:1580818, RGD:10040982 NCBI chr10:65,767,960...65,771,040
Ensembl chr10:65,767,053...65,771,038
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:10077454 RGD:1580648 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
erythromelalgia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy ClinVar NCBI chr 4:119,910,461...119,963,065
Ensembl chr 4:119,910,478...119,959,173
JBrowse link
G Scn10a sodium voltage-gated channel alpha subunit 10 ISO ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy ClinVar PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr 8:128,298,593...128,416,896
Ensembl chr 8:128,298,594...128,416,650
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Primary erythromelalgia
ClinVar Annotator: match by term: Erythermalgia, primary
ClinVar Annotator: match by term: Inherited Erythromelalgia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:133020
ClinVar
CTD
OMIM
PMID:1536168 PMID:14985375 PMID:15385606 PMID:15955112 PMID:15958509 PMID:16216943 PMID:16392115 PMID:16702558 PMID:16988069 PMID:17101882 PMID:17145499 PMID:18347287 PMID:18414213 PMID:18518989 PMID:19369487 PMID:19549232 PMID:19557861 PMID:19763161 PMID:20301342 PMID:21094958 PMID:21698661 PMID:21939494 PMID:22035805 PMID:22136189 PMID:22539570 PMID:22604722 PMID:22826602 PMID:22995991 PMID:23129781 PMID:23149731 PMID:23280954 PMID:23292638 PMID:23450472 PMID:23874707 PMID:23895530 PMID:24033266 PMID:24088041 PMID:24776970 PMID:24817410 PMID:24820863 PMID:24848745 PMID:25250524 PMID:25316021 PMID:25333069 PMID:25401298 PMID:25741868 PMID:25852444 PMID:25993546 PMID:26264438 PMID:26284228 PMID:26392352 PMID:26467025 PMID:26633545 PMID:26675522 PMID:26920677 PMID:27301361 PMID:27504264 PMID:27608006 PMID:27843123 PMID:27884173 PMID:27956748 PMID:28073787 PMID:28235406 PMID:28440294 PMID:28492532 PMID:28658526 PMID:29176367 PMID:29264398 PMID:29358611 PMID:29379075 PMID:29500686 PMID:29911575 PMID:29961513 PMID:30316835 PMID:30478917 PMID:30569495 PMID:30642272 PMID:30702961 PMID:30834459 PMID:31193310 PMID:31780880 PMID:32581362 PMID:33216760 PMID:229911575, PMID:16216943, PMID:14985375 RGD:1599517, RGD:1599515 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
G Septin9 septin 9 ISO ClinVar Annotator: match by term: Sodium channelopathy-related small fiber neuropathy ClinVar NCBI chr10:106,208,308...106,340,747
Ensembl chr10:106,264,434...106,348,490
JBrowse link
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Facial dysmorphism, immunodeficiency, livedo, and short stature ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:19966286 PMID:21157497 PMID:23230001 PMID:23263490 PMID:23447401 PMID:23636398 PMID:24033266 PMID:25079317 PMID:25529843 PMID:25559809 PMID:25642631 PMID:25741868 PMID:25860647 PMID:25948378 PMID:26467025 PMID:26822575 PMID:28166811 PMID:28492532 PMID:29120461 PMID:29987844 PMID:30049826 PMID:30194485 NCBI chr12:52,403,533...52,452,075
Ensembl chr12:52,403,529...52,452,040
JBrowse link
Familial Thoracic Aortic Aneurysm 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar Annotator: match by OMIM:611788
OMIM
ClinVar
PMID:10532176 PMID:13129918 PMID:14730227 PMID:15138499 PMID:15472996 PMID:17994018 PMID:19409525 PMID:19639654 PMID:20689142 PMID:20734336 PMID:20970362 PMID:21212136 PMID:21248741 PMID:21288906 PMID:21733706 PMID:21937134 PMID:22302747 PMID:22543189 PMID:22752479 PMID:22790431 PMID:22831780 PMID:22946110 PMID:23099432 PMID:23253043 PMID:23613326 PMID:24020716 PMID:24033266 PMID:24243736 PMID:24293535 PMID:24621862 PMID:24793577 PMID:24998021 PMID:25326635 PMID:25644172 PMID:25741868 PMID:25759435 PMID:25944730 PMID:26034244 PMID:26153420 PMID:26188975 PMID:26637293 PMID:27176728 PMID:27481187 PMID:27549731 PMID:27551047 PMID:27567161 PMID:27611364 PMID:28492532 PMID:28652363 PMID:28659821 PMID:28855619 PMID:29300374 PMID:29687370 PMID:29907982 PMID:30341550 NCBI chr 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI
ClinVar PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25500235 PMID:25637381 PMID:25741868 NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804
JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 ClinVar PMID:25741868 NCBI chr 8:68,569,530...68,678,349
Ensembl chr 8:68,569,530...68,678,349
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI ClinVar PMID:25741868 PMID:27879313 PMID:28492532 NCBI chr 5:63,056,071...63,119,635
Ensembl chr 5:63,050,758...63,119,635
JBrowse link
Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
ClinVar Annotator: match by OMIM:611773
OMIM
ClinVar
PMID:17030722 PMID:18077766 PMID:18160688 PMID:19477666 PMID:20385946 PMID:20733150 PMID:20818663 PMID:21527998 PMID:21625620 PMID:22522439 PMID:22574627 PMID:25228067 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps ClinVar PMID:25741868 PMID:26467025 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
JBrowse link
hereditary hemorrhagic telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:20135064 PMID:21158752 PMID:25637381 PMID:26176610 PMID:28492532, PMID:15024723 RGD:1300352 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
JBrowse link
G Eng endoglin no_association ISO HHT1, OMIM:187300;DNA:point mutation:Y277X, DNA:deletion:exon
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia
ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome
ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER
DNA:mutations:
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple:
ClinVar
CTD
PMID:8162075 PMID:9245986 PMID:9366572 PMID:9536098 PMID:9554745 PMID:10545596 PMID:10625079 PMID:10702408 PMID:10749981 PMID:11343967 PMID:11440987 PMID:11793473 PMID:12673790 PMID:12786761 PMID:12920067 PMID:15024723 PMID:15115879 PMID:15312062 PMID:15375013 PMID:15517393 PMID:15521985 PMID:15712270 PMID:15712271 PMID:15849752 PMID:15879500 PMID:15880681 PMID:16287957 PMID:16429404 PMID:16470589 PMID:16525724 PMID:16690726 PMID:16705692 PMID:16752392 PMID:16754821 PMID:17384219 PMID:17576681 PMID:17786384 PMID:18495117 PMID:18498373 PMID:18673552 PMID:19270816 PMID:19299629 PMID:19508727 PMID:19767588 PMID:20135064 PMID:20414677 PMID:20656886 PMID:20813596 PMID:20824275 PMID:21158752 PMID:21967607 PMID:22022569 PMID:22192717 PMID:22385575 PMID:22722545 PMID:22991266 PMID:23298310 PMID:23399955 PMID:23535011 PMID:23710379 PMID:23722869 PMID:23801935 PMID:23919827 PMID:24001356 PMID:24033266 PMID:24055113 PMID:24196379 PMID:24267784 PMID:24921008 PMID:25080347 PMID:25312062 PMID:25326635 PMID:25637381 PMID:25674101 PMID:25741868 PMID:25970827 PMID:26167679 PMID:26387786 PMID:26395556 PMID:27146957 PMID:28166811 PMID:28231770 PMID:28492532 PMID:28655553 PMID:29171923 PMID:29305977 PMID:29743074 PMID:30029678 PMID:30120215 PMID:30578397 PMID:31400083 PMID:31727138 PMID:32573726 PMID:32581362, PMID:7894484, PMID:16752392, PMID:10899246, PMID:10562296, PMID:9245986, PMID:15375013, PMID:15024723 RGD:1601038, RGD:11035216, RGD:11041566, RGD:11041563, RGD:11041183, RGD:11041169, RGD:1300352 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Gdf2 growth differentiation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26801773 NCBI chr16:10,267,510...10,293,545
Ensembl chr16:10,267,482...10,273,239
JBrowse link
G Smad4 SMAD family member 4 ISO DNA:missense,frameshift, nonsense mutations:exons: RGD PMID:16613914 RGD:11035218 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Tnf tumor necrosis factor ISO protein:decreased expression:blood, lymphocyte RGD PMID:16611101 RGD:10450733 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
Hereditary Hemorrhagic Telangiectasia, Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia type 1 ClinVar PMID:9536098 PMID:15024723 PMID:15065824 PMID:15517393 PMID:15712271 PMID:16429404 PMID:16470787 PMID:16540754 PMID:16705692 PMID:17219009 PMID:17384219 PMID:17576681 PMID:17786384 PMID:18673552 PMID:20414677 PMID:20501893 PMID:21158752 PMID:23722869 PMID:23919827 PMID:24196379 PMID:25741868 PMID:26387786 PMID:28492532 PMID:31220907 PMID:32573726 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Haemorrhagic telangiectasia 1
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia type 1
ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1
ClinVar
OMIM
PMID:2601709 PMID:9245986 PMID:9366572 PMID:9536098 PMID:9554745 PMID:10545596 PMID:10625079 PMID:10749981 PMID:10982033 PMID:11343967 PMID:11440987 PMID:12673790 PMID:12786761 PMID:12920067 PMID:14684682 PMID:15024723 PMID:15312062 PMID:15375013 PMID:15517393 PMID:15521985 PMID:15712270 PMID:15712271 PMID:15849752 PMID:15879500 PMID:15880681 PMID:16429404 PMID:16525724 PMID:16542389 PMID:16690726 PMID:16705692 PMID:16752392 PMID:16754821 PMID:17384219 PMID:17576681 PMID:17786384 PMID:18495117 PMID:18498373 PMID:18607909 PMID:19270816 PMID:19299629 PMID:19508727 PMID:19767588 PMID:20414677 PMID:20656886 PMID:20813596 PMID:20824275 PMID:21158752 PMID:21967607 PMID:22022569 PMID:22192717 PMID:22385575 PMID:22991266 PMID:23298310 PMID:23399955 PMID:23535011 PMID:23722869 PMID:24001356 PMID:24033266 PMID:24055113 PMID:24196379 PMID:24267784 PMID:24921008 PMID:25312062 PMID:25326635 PMID:25637381 PMID:25674101 PMID:25741868 PMID:25970827 PMID:26167679 PMID:26387786 PMID:28166811 PMID:28231770 PMID:28492532 PMID:29171923 PMID:29305977 PMID:30029678 PMID:30251589 PMID:30374176 PMID:31727138 PMID:32573726 PMID:32581362, PMID:15907823 RGD:11041166 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia type 1 ClinVar NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:decreased expression:plasma: RGD PMID:15907823 RGD:11041166 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
Hereditary Hemorrhagic Telangiectasia, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia type 2
ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type II
DNA:mutations:
DNA:deletion, insertion and missense mutations:exons:
DNA:nonsense mutation:cds:145del(human)
ClinVar Annotator: match by term: Haemorrhagic telangiectasia 2
ClinVar Annotator: match by OMIM:600376
OMIM
ClinVar
PMID:6470589 PMID:8640225 PMID:9245985 PMID:9536098 PMID:10187774 PMID:10694922 PMID:10767348 PMID:11170071 PMID:11484689 PMID:12114496 PMID:12700602 PMID:12843319 PMID:14684682 PMID:15024723 PMID:15065824 PMID:15375013 PMID:15517393 PMID:15687131 PMID:15712270 PMID:15712271 PMID:15879500 PMID:15880681 PMID:16123970 PMID:16282348 PMID:16429404 PMID:16470589 PMID:16470787 PMID:16525724 PMID:16540754 PMID:16542389 PMID:16690726 PMID:16705692 PMID:16706966 PMID:16752392 PMID:16861286 PMID:17384219 PMID:17576681 PMID:17786384 PMID:18159113 PMID:18285823 PMID:18312453 PMID:18498373 PMID:18673552 PMID:19357124 PMID:19508727 PMID:19555857 PMID:19767588 PMID:20056902 PMID:20414677 PMID:20501893 PMID:21158752 PMID:21378382 PMID:22028876 PMID:22377182 PMID:22553411 PMID:22632830 PMID:22718755 PMID:22781769 PMID:22799562 PMID:22991266 PMID:23124896 PMID:23298310 PMID:23568730 PMID:23653583 PMID:23722869 PMID:23729109 PMID:23805858 PMID:23919827 PMID:24001356 PMID:24033266 PMID:24055113 PMID:24196379 PMID:24603890 PMID:24753439 PMID:25326635 PMID:25637381 PMID:25741868 PMID:25778885 PMID:25970827 PMID:26176610 PMID:26245826 PMID:26387786 PMID:26401274 PMID:27291782 PMID:27316748 PMID:27630060 PMID:28166811 PMID:28492532 PMID:28655553 PMID:29171923 PMID:29449337 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29923633 PMID:30244195 PMID:31220907 PMID:31327192 PMID:31727138 PMID:32165824 PMID:32573726 PMID:32581362, PMID:16752392, PMID:12588795, PMID:17219009, PMID:18543223 RGD:11035216, RGD:11035214, RGD:11035213, RGD:10769364 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Oral cavity telangiectasia ClinVar PMID:25741868 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
Hereditary Hemorrhagic Telangiectasia, Type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf2 growth differentiation factor 2 ISO ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 5
ClinVar Annotator: match by OMIM:615506
OMIM
ClinVar
PMID:23972370 PMID:25741868 PMID:26801773 PMID:28492532 PMID:31661308 PMID:32573726 NCBI chr16:10,267,510...10,293,545
Ensembl chr16:10,267,482...10,273,239
JBrowse link
hypotrichosis-lymphedema-telangiectasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox18 SRY-box transcription factor 18 ISO DNA:missense mutations, nonsense mutation: 455G>C (p.A104P), 428T>A (p.W95R), 865C>A (p.C240X) (human)
ClinVar Annotator: match by OMIM:607823
ClinVar
OMIM
PMID:11701398 PMID:12740761 PMID:24697860 PMID:26148450, PMID:12740761 RGD:1599075 NCBI chr 3:177,177,237...177,179,039
Ensembl chr 3:177,177,310...177,179,127
JBrowse link
G Tcea2 transcription elongation factor A2 ISO ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia syndrome ClinVar PMID:11701398 PMID:12740761 PMID:24697860 PMID:26148450 NCBI chr 3:177,187,686...177,195,898
Ensembl chr 3:177,188,044...177,195,894
JBrowse link
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox18 SRY-box transcription factor 18 ISO ClinVar Annotator: match by term: Glomerulonephritis with sparse hair and telangiectases ClinVar
OMIM
PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:29307792 NCBI chr 3:177,177,237...177,179,039
Ensembl chr 3:177,177,310...177,179,127
JBrowse link
G Tcea2 transcription elongation factor A2 ISO ClinVar Annotator: match by term: Glomerulonephritis with sparse hair and telangiectases ClinVar PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:29307792 NCBI chr 3:177,187,686...177,195,898
Ensembl chr 3:177,188,044...177,195,894
JBrowse link
Idiopathic Juxtafoveal Retinal Telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs cell polarity complex component 1 IAGP RGD PMID:25878282 RGD:13451131 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Crb1m1 crumbs 1, cell polarity complex component;mutant 1 IAGP RGD PMID:25878282 RGD:13451131
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI
DNA:mutations:exon:multiple
DNA:frameshift mutations, missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by OMIM:175050
OMIM
ClinVar
PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10441006 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10790223 PMID:10797267 PMID:11274206 PMID:11583957 PMID:11782434 PMID:11977156 PMID:12116240 PMID:12417513 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:15288293 PMID:15754356 PMID:16152648 PMID:16436638 PMID:16613914 PMID:17576681 PMID:17873119 PMID:17994767 PMID:18355998 PMID:18823382 PMID:20101697 PMID:20685751 PMID:21465659 PMID:21572342 PMID:21835029 PMID:22158539 PMID:22243968 PMID:22316667 PMID:22331366 PMID:22585601 PMID:22683461 PMID:22703879 PMID:22748914 PMID:22875147 PMID:23239472 PMID:23399955 PMID:24033266 PMID:24398790 PMID:24465802 PMID:25148578 PMID:25186627 PMID:25318351 PMID:25559809 PMID:25589618 PMID:25637381 PMID:25695693 PMID:25741868 PMID:25931195 PMID:25980754 PMID:26467025 PMID:26572829 PMID:26619011 PMID:26636501 PMID:26681312 PMID:26900293 PMID:26976419 PMID:27146957 PMID:27153395 PMID:27302097 PMID:27375208 PMID:27443514 PMID:27562837 PMID:27595937 PMID:27613157 PMID:27978560 PMID:28135145 PMID:28196074 PMID:28492532 PMID:28528518 PMID:28655553 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29684080 PMID:30809044 PMID:30842500 PMID:31159747 PMID:32573726, PMID:20101697, PMID:15031030 RGD:11062720, RGD:11070199 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
Megalencephaly - Cutis Marmorata Telangiectatica Congenita term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION ClinVar PMID:22729224 PMID:23745724 PMID:25416470 PMID:25523067 PMID:28086757 NCBI chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: PIK3CA related overgrowth spectrum
ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome
ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION
ClinVar Annotator: match by term: PIK3CA Related Overgrowth Spectrum
OMIM
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22228622 PMID:22271473 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23888070 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25326635 PMID:25326637 PMID:25599672 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29446767 PMID:30543347 PMID:31775759 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Pik3r2 phosphoinositide-3-kinase regulatory subunit 2 ISO ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome ClinVar PMID:16357568 PMID:21984976 PMID:22729224 PMID:24497998 PMID:25741868 PMID:26520804 PMID:26860062 PMID:27854409 PMID:28086757 PMID:28492532 PMID:28502725 PMID:28566443 PMID:29051493 NCBI chr16:20,415,109...20,424,982
Ensembl chr16:20,416,432...20,424,980
JBrowse link
mesenteric vascular occlusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Icam1 intercellular adhesion molecule 1 treatment IMP RGD PMID:7858885 RGD:11522711 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Jak2 Janus kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20434300 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Serpind1 serpin family D member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1831893 NCBI chr11:87,913,814...87,924,880
Ensembl chr11:87,913,806...87,924,816
JBrowse link
Peripheral Arterial Occlusive Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC299277 similar to serine (or cysteine) peptidase inhibitor, clade A, member 3B ISO ClinVar Annotator: match by term: Peripheral arterial occlusive disease 1 ClinVar PMID:1618300 PMID:9040504 PMID:11289720 PMID:25741868 NCBI chr 6:127,871,895...127,888,287
Ensembl chr 6:127,872,666...127,886,540
JBrowse link
peripheral artery disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:16321391 RGD:5686716 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G B2m beta-2 microglobulin severity ISO RGD PMID:21314441 RGD:6482704 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27082954 NCBI chr 3:126,335,963...126,346,771
Ensembl chr 3:126,335,863...126,346,318
JBrowse link
G Bmp8a bone morphogenetic protein 8a ISO CTD Direct Evidence: marker/mechanism CTD PMID:27082954 NCBI chr 5:141,007,462...141,033,511
Ensembl chr 5:141,007,462...141,033,511
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO associated with Diabetes Mellitus, Type 2;DNA:transition:cds:g.677C>T (human) RGD PMID:16274479 RGD:6893659 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Npy neuropeptide Y ISO RGD PMID:21468772 RGD:10448273 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Npy1r neuropeptide Y receptor Y1 ISO RGD PMID:21468772 RGD:10448273 NCBI chr16:24,779,480...24,789,131
Ensembl chr16:24,779,477...24,788,740
JBrowse link
G Npy2r neuropeptide Y receptor Y2 ISO RGD PMID:21468772 RGD:10448273 NCBI chr 2:181,528,949...181,538,145
Ensembl chr 2:181,530,832...181,531,978
JBrowse link
G Npy5r neuropeptide Y receptor Y5 ISO RGD PMID:21468772 RGD:10448273 NCBI chr16:24,796,685...24,805,730
Ensembl chr16:24,797,124...24,805,079
JBrowse link
G P2ry12 purinergic receptor P2Y12 ISO RGD PMID:14662702 RGD:1580188 NCBI chr 2:149,440,807...149,482,592
Ensembl chr 2:149,441,598...149,444,548
JBrowse link
G Serpine1 serpin family E member 1 ISO associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) RGD PMID:9201602 RGD:8547710 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
priapism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2 BCL2, apoptosis regulator IEP protein:increased expression:erectile tissue (rat) RGD PMID:21085184 RGD:10412315 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G F13a1 coagulation factor XIII A1 chain susceptibility ISO associated with sickle cell anemia;DNA:SNPs::multiple(human) RGD PMID:17408468 RGD:10450728 NCBI chr17:28,504,650...28,680,015
Ensembl chr17:28,504,623...28,680,362
JBrowse link
G Mdm2 MDM2 proto-oncogene IEP protein:increased expression:corpus cavernosum RGD PMID:21085184 RGD:10412315 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
JBrowse link
proliferative diabetic retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipoq adiponectin, C1Q and collagen domain containing ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:aqueous humor RGD PMID:22563689 RGD:8694466 NCBI chr11:81,330,845...81,344,488
Ensembl chr11:81,330,293...81,344,488
JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO protein:increased expression:vitreous humor RGD PMID:16364297 RGD:8695978 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Cat catalase ISO associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum: RGD PMID:24092995 RGD:9068931 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 disease_progression ISO associated with Diabetes Mellitus, Type 2;DNA:polymorphism:promoter:g.-2518A>G (human)
associated with Diabetes Mellitus;protein:increased expression:vitreous humor (human)
RGD PMID:23549806, PMID:21850157 RGD:8548851, RGD:8549477 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Enpp2 ectonucleotide pyrophosphatase/phosphodiesterase 2 disease_progression ISO protein:decreased expression:vitreous: RGD PMID:22864860 RGD:9685437 NCBI chr 7:94,479,931...94,563,086
Ensembl chr 7:94,480,396...94,563,001
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:increased expression:vitreous: RGD PMID:22868384 RGD:10402118 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Il6r interleukin 6 receptor ISO protein:increased expression:serum RGD PMID:17401618 RGD:10402814 NCBI chr 2:189,196,180...189,255,987
Ensembl chr 2:189,205,701...189,254,628
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:increased expression:vitreous: RGD PMID:19799585 RGD:10449447 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma onset
susceptibility
ISO associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:c.-2819A>G (human)
DNA:snp:cds:p.P12A (rs1801282) (human)
RGD PMID:18541841, PMID:19125195, PMID:23559865 RGD:2301854, RGD:8699508, RGD:8552820 NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
JBrowse link
G Serpine1 serpin family E member 1 susceptibility
disease_progression
ISO associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human)
protein:increased expression:plasma (human)
RGD PMID:16416371, PMID:23304115 RGD:8699494, RGD:8699497 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO protein:increased expression:vitreous fluid (human) RGD PMID:11723044, PMID:15059706 RGD:8554895, RGD:1580135 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 ISO DNA:snp:exon:p.P281P (rs2235611) (human) RGD PMID:21309690 RGD:11039452 NCBI chr 3:159,305,345...159,310,668
Ensembl chr 3:159,305,345...159,310,668
JBrowse link
G Timm44 translocase of inner mitochondrial membrane 44 ISO mRNA:decreased expression:retina RGD PMID:22003103 RGD:13463597 NCBI chr12:2,517,006...2,533,707
Ensembl chr12:2,517,006...2,533,706
JBrowse link
G Vegfa vascular endothelial growth factor A IDA associated with Diabetes Mellitus, Type 2; protein:increased expression:retina RGD PMID:16054135 RGD:2312348 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED ClinVar PMID:8640225 PMID:9245985 PMID:10767348 PMID:11170071 PMID:11484689 PMID:12114496 PMID:12700602 PMID:12843319 PMID:14684682 PMID:15024723 PMID:15065824 PMID:15375013 PMID:15517393 PMID:15687131 PMID:15712271 PMID:15880681 PMID:16123970 PMID:16282348 PMID:16429404 PMID:16470787 PMID:16540754 PMID:16542389 PMID:16690726 PMID:16705692 PMID:16706966 PMID:17384219 PMID:17786384 PMID:18159113 PMID:18285823 PMID:18498373 PMID:18673552 PMID:19357124 PMID:20056902 PMID:20414677 PMID:20501893 PMID:21158752 PMID:21378382 PMID:21651515 PMID:22377182 PMID:22553411 PMID:22632830 PMID:22991266 PMID:23124896 PMID:23298310 PMID:23722869 PMID:23805858 PMID:23919827 PMID:24196379 PMID:25318803 PMID:25326635 PMID:25741868 PMID:25970827 PMID:26176610 PMID:26387786 PMID:28492532 PMID:32573726 PMID:32581362 NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED ClinVar PMID:14684682 PMID:15024723 PMID:15115879 PMID:15687131 PMID:18156574 PMID:23919827 PMID:25741868 PMID:26387786 PMID:28492532 PMID:32573726 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
Raynaud disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase treatment ISO associated with Scleroderma, Systemic;protein:decreased activity:serum: RGD PMID:17401513 RGD:9479162 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16977343 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16977343 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
renal artery disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn1 endothelin 1 IEP mRNA:increased expression:afferent arteriole of kidney (rat) RGD PMID:10217661 RGD:8662320 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:transition:cds:g.677C>T (human) RGD PMID:16760910 RGD:2313876 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
renal artery obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoc3 apolipoprotein C3 ISO protein:increased expression:plasma RGD PMID:21613792 RGD:7207208 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
JBrowse link
G Cd40 CD40 molecule disease_progression ISO RGD PMID:23399713 RGD:7248419 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Sod1 superoxide dismutase 1 IEP protein:decreased expression:kidney (rat) RGD PMID:17959751 RGD:8655955 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
retinal artery occlusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F5 coagulation factor V no_association ISO RGD PMID:12928685 RGD:1580362 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Il10 interleukin 10 susceptibility ISO DNA:SNP:promoter:-592C>A (rs1800872) (human) RGD PMID:17438520 RGD:7365056 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il6 interleukin 6 susceptibility ISO DNA:polymorphism>promoter:-174G>C(human) RGD PMID:15604420, PMID:19421412 RGD:7829798, RGD:7829809 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:19421412 RGD:7829809 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
retinal telangiectasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs cell polarity complex component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11389483 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22267198 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression,increased phosphorylation:eye: RGD PMID:23221067 RGD:8549759 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Vegfa vascular endothelial growth factor A severity ISO protein:increased expression:eye: RGD PMID:23221067 RGD:8549759 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
retinal vein occlusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 IEP RGD PMID:21487926 RGD:5490120 NCBI chr 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360
JBrowse link
G Aqp4 aquaporin 4 IEP mRNA:decreased expression:retina RGD PMID:21487926 RGD:5490120 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum: RGD PMID:6720266 RGD:9491754 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G F2 coagulation factor II no_association ISO DNA:SNP: :20210G>A (human) RGD PMID:22800650, PMID:14994919 RGD:7387258, RGD:7394774 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F5 coagulation factor V onset
no_association
ISO associated with Behcet Syndrome;DNA:missense mutation:cds:p.R506Q (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:1691G>A (human)
DNA:SNP:cds:1691G>A (human)
CTD PMID:12022286, PMID:10511031, PMID:16113792, PMID:10634550 RGD:7394767, RGD:7394778, RGD:7394773 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Fgf2 fibroblast growth factor 2 IEP RGD PMID:10342378 RGD:8655593 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Il1b interleukin 1 beta IEP mRNA:increased expression:neuroretina, retinal pigment epithelium (rat) RGD PMID:21487926 RGD:5490120 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il6 interleukin 6 IEP RGD PMID:21487926 RGD:5490120 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Itga2 integrin subunit alpha 2 susceptibility ISO DNA:snp, haplotype:cds:g.807C>T (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12928694, PMID:12928694 RGD:8686430 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP RGD PMID:21487926 RGD:5490120 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNP:promoter:-1306C>T (rs243865) (human) RGD PMID:23791966 RGD:8657048 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility
no_association
ISO DNA:SNP: :677C>T(human)
DNA:missense mutation:cds:677C>T (human)
DNA:SNP: :1298A>C(human)
RGD PMID:10485556, PMID:24250697, PMID:23289804 RGD:7387256, RGD:10449421, RGD:10449405 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nrp1 neuropilin 1 ISS MouseDO NCBI chr19:61,332,351...61,486,166
Ensembl chr19:61,332,351...61,485,858
JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutation:cds:p.L55M (human)
protein:decreased activity:serum (human)
RGD PMID:23441121, PMID:18084236 RGD:8547547, RGD:8547555 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:deletion:promoter:g.-676_-674delG (human)
protein:increased activity:plasma (human)
RGD PMID:16244763, PMID:15213845 RGD:8547742, RGD:8547805 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:21275514 RGD:8554901 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Vegfa vascular endothelial growth factor A IEP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:16680105, PMID:21487926 RGD:5490120 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vegfb vascular endothelial growth factor B IEP RGD PMID:21487926 RGD:5490120 NCBI chr 1:222,237,000...222,242,786
Ensembl chr 1:222,239,022...222,242,644
JBrowse link
Reynolds Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Reynolds syndrome OMIM
ClinVar
PMID:20522425 PMID:25348816 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr13:100,431,390...100,450,209 JBrowse link
severe nonproliferative diabetic retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISS MouseDO NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
telangiectasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt1 FERM domain containing kindlin 1 ISO Kindler syndrome, OMIM:173650 RGD PMID:12668616 RGD:1600405 NCBI chr 3:125,566,744...125,607,864
Ensembl chr 3:125,566,643...125,607,735
JBrowse link
G Hrh1 histamine receptor H 1 ISO CTD Direct Evidence: therapeutic CTD PMID:32061592 NCBI chr 4:146,374,596...146,458,148
Ensembl chr 4:146,455,332...146,457,074
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO associated with radiation treatment of Breast Neoplasms;DNA:polymorphisms RGD PMID:18027873 RGD:2292067 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
thromboangiitis obliterans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor treatment IEP
IDA
mRNA, protein:increased expression:femoral artery (rat) RGD PMID:23069071, PMID:23069071 RGD:7207785, RGD:7207785 NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 IEP mRNA:increased expression:femoral artery (rat) RGD PMID:19572944 RGD:5508315 NCBI chr10:92,191,473...92,233,662
Ensembl chr10:92,191,718...92,232,645
JBrowse link
G Eln elastin ISO protein:increased expression:blood: RGD PMID:8763587 RGD:9585753 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Ucn urocortin IEP
IDA
mRNA:increased expression:femoral artery (rat) RGD PMID:19572944, PMID:19572944 RGD:5508315, RGD:5508315 NCBI chr 6:26,602,144...26,602,974
Ensembl chr 6:26,602,144...26,602,974
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO
IEP
protein:increased expression:femoral artery: RGD PMID:12086338, PMID:23069071 RGD:1580352, RGD:7207785 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
thrombophlebitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir223 microRNA 223 IMP RGD PMID:32141571 RGD:26884338 NCBI chr  X:65,367,812...65,367,921
Ensembl chr  X:65,367,812...65,367,921
JBrowse link
G Pros1 protein S ISO RGD PMID:12907438 RGD:1578677 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B35, HLA-B51 (human, Turkish) RGD PMID:12372094 RGD:7364924
venous tributary occlusion of retina term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga2 integrin subunit alpha 2 no_association ISO DNA:snp:cds:g.807C>T (human) RGD PMID:16157382 RGD:1582301 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:decreased expression:vitreous humor (human) RGD PMID:20714746 RGD:8554903 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      cardiovascular system disease 4395
        vascular disease 3322
          peripheral vascular disease 252
            Livedo Reticularis + 9
            May-Thurner Syndrome 0
            Raynaud disease + 8
            Urethral Obstruction Sequence 0
            blue toe syndrome 0
            diabetic angiopathy + 162
            erythromelalgia 4
            mesenteric vascular occlusion 3
            peripheral artery disease + 12
            phlebitis + 3
            priapism + 3
            renal artery disease + 5
            retinal vascular occlusion + 21
            telangiectasis + 49
            thromboangiitis obliterans 5
paths to the root