RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | peripheral vascular disease |
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Accession: | DOID:341
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browse the term
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Definition: | A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain. (DO) |
Synonyms: | exact_synonym: | peripheral angiopathies; peripheral angiopathy; peripheral vascular diseases |
| primary_id: | MESH:D016491 |
| xref: | EFO:0003875; ICD9CM:443.81 |
For additional species annotation, visit the
Alliance of Genome Resources.
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G |
Adm |
adrenomedullin |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:15350700 |
RGD:1625302 |
NCBI chr 1:174,164,178...174,182,372
Ensembl chr 1:164,745,466...164,747,654
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G |
Apob |
apolipoprotein B |
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ISO |
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GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr 6:36,563,704...36,603,300
Ensembl chr 6:30,844,368...30,892,497
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G |
Apoh |
apolipoprotein H |
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ISO |
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RGD |
PMID:17626983 |
RGD:2313983 |
NCBI chr10:93,841,992...93,855,897
Ensembl chr10:93,310,977...93,356,329
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G |
Bmpr2 |
bone morphogenetic protein receptor type 2 |
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ISO |
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RGD |
PMID:18723761 |
RGD:5129473 |
NCBI chr 9:68,685,942...68,801,353
Ensembl chr 9:61,190,566...61,301,809
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G |
Cst3 |
cystatin C |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:19761940 |
RGD:2314304 |
NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:136,336,920...136,340,822
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19022366 |
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NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:58,096,077...58,102,125
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G |
Dab2ip |
DAB2 interacting protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20622881 |
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NCBI chr 3:39,312,745...39,483,730
Ensembl chr 3:18,915,290...19,086,280
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G |
Fas |
Fas cell surface death receptor |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma |
RGD |
PMID:17075777 |
RGD:2315707 |
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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G |
Hfe |
homeostatic iron regulator |
no_association |
ISO |
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RGD |
PMID:15175819 |
RGD:1582671 |
NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502
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G |
Il6 |
interleukin 6 |
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ISO |
associated with Metabolic Syndrome X; protein:increased expression:extracellular space (human) |
RGD |
PMID:19397692 |
RGD:2307191 |
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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G |
Lipc |
lipase C, hepatic type |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:transition:promoter:-250G>A (human) |
RGD |
PMID:18413186 |
RGD:2308822 |
NCBI chr 8:80,390,470...80,516,463
Ensembl chr 8:71,509,635...71,635,464
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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 1:237,429,873...237,465,567
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G |
Mstn |
myostatin |
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IEP |
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RGD |
PMID:19125275 |
RGD:2303544 |
NCBI chr 9:55,944,513...55,950,913
Ensembl chr 9:48,452,533...48,458,933
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G |
Sell |
selectin L |
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IMP |
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RGD |
PMID:17924279 |
RGD:2316357 |
NCBI chr13:78,950,100...78,969,604
Ensembl chr13:76,416,915...76,436,456
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G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
severity |
ISO |
protein:increased expression:plasma |
RGD |
PMID:16115489 |
RGD:1624125 |
NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538
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G |
Aasdhppt |
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:1,453,226...1,463,990
Ensembl chr 8:1,452,282...1,463,966
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G |
Acat1 |
acetyl-CoA acetyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:62,876,003...62,905,080
Ensembl chr 8:53,979,813...54,008,855
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G |
Alg9 |
ALG9, alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:60,013,429...60,085,159
Ensembl chr 8:51,119,365...51,182,261
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G |
Alkbh8 |
alkB homolog 8, tRNA methyltransferase |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 6:378,779...449,382
Ensembl chr 6:378,100...452,165
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G |
Amotl1 |
angiomotin-like 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,348,651...11,467,564
Ensembl chr 8:11,353,674...11,467,573
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G |
Ankrd49 |
ankyrin repeat domain 49 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,627,512...11,632,200
Ensembl chr 8:11,627,518...11,632,207
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G |
Arhgap20 |
Rho GTPase activating protein 20 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:52,074,472...52,155,739
Ensembl chr 8:52,074,158...52,155,739
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G |
Arhgap42 |
Rho GTPase activating protein 42 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:6,154,759...6,384,497
Ensembl chr 8:6,156,865...6,384,870
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Atm |
ATM serine/threonine kinase |
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ISO ISS IMP |
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: Louis-Bar syndrome 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: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | 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: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome OMIM:208900 DNA:deletion:exon: CTD Direct Evidence: marker/mechanism |
ClinVar OMIM MouseDO CTD RGD |
PMID:100011 PMID:133608 PMID:581456 PMID:622825 PMID:623656 PMID:988733 PMID:1065243 PMID:1098053 PMID:1160401 PMID:1300551 PMID:1632451 PMID:1739330 PMID:1739584 PMID:1849795 PMID:1943118 PMID:1953577 PMID:2166257 PMID:2491181 PMID:2557216 PMID:2675381 PMID:2677459 PMID:3149931 PMID:3217261 PMID:3280694 PMID:3338800 PMID:3347199 PMID:3638722 PMID:4012663 PMID:6504056 PMID:7792600 PMID:8321536 PMID:8659541 PMID:8665503 PMID:8698354 PMID:8755819 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:9537233 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:11078475 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:12072552 PMID:12072877 PMID:12091354 PMID:12105990 PMID:12149228 PMID:12195425 PMID:12362033 PMID:12400598 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:12708462 PMID:12745884 PMID:12810666 PMID:12815592 PMID:12882767 PMID:12883528 PMID:12917204 PMID:12935922 PMID:12935933 PMID:12958068 PMID:12969974 PMID:12970738 PMID:14562025 PMID:14576320 PMID:14586414 PMID:14627829 PMID:14628072 PMID:14634505 PMID:14643952 PMID:14654357 PMID:14695186 PMID:14695534 PMID:14695997 PMID:14706517 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 PMID:15756685 PMID:15824023 PMID:15824150 PMID:15843990 PMID:15880680 PMID:15880721 PMID:15928302 PMID:16014569 PMID:16029571 PMID:16035317 PMID:16112413 PMID:16140923 PMID:16158199 PMID:16167060 PMID:16189143 PMID:16199547 PMID:16238588 PMID:16266405 PMID:16380133 PMID:16387360 PMID:16411093 PMID:16461462 PMID:16574953 PMID:16603769 PMID:16622469 PMID:16631465 PMID:16652348 PMID:16741161 PMID:16832357 PMID:16864838 PMID:16914028 PMID:16941484 PMID:16953663 PMID:16958054 PMID:16998505 PMID:17000706 PMID:17001622 PMID:17001642 PMID:17023046 PMID:17124347 PMID:17132159 PMID:17166884 PMID:17187232 PMID:17203191 PMID:17293864 PMID:17298726 PMID:17333338 PMID:17341484 PMID:17344846 PMID:17351744 PMID:17376192 PMID:17389389 PMID:17393301 PMID:17490827 PMID:17502119 PMID:17517479 PMID:17535973 PMID:17540590 PMID:17576681 PMID:17600866 PMID:17623063 PMID:17640065 PMID:17699107 PMID:17726045 PMID:17876757 PMID:17910737 PMID:17923702 PMID:17968022 PMID:17985259 PMID:18066086 PMID:18164969 PMID:18174244 PMID:18261794 PMID:18321536 PMID:18384426 PMID:18414213 PMID:18431795 PMID:18433505 PMID:18497957 PMID:18502988 PMID:18504682 PMID:18560558 PMID:18565893 PMID:18573109 PMID:18575927 PMID:18634022 PMID:18701470 PMID:18807267 PMID:18813293 PMID:18846412 PMID:19018867 PMID:19081671 PMID:19147735 PMID:19347964 PMID:19404735 PMID:19431188 PMID:19440741 PMID:19535770 PMID:19605768 PMID:19638463 PMID:19650357 PMID:19683821 PMID:19691550 PMID:19705055 PMID:19763152 PMID:19770270 PMID:19773425 PMID:19779456 PMID:19781682 PMID:19823873 PMID:19931588 PMID:20051774 PMID:20077034 PMID:20111735 PMID:20124459 PMID:20153123 PMID:20232390 PMID:20301790 PMID:20305132 PMID:20307669 PMID:20308662 PMID:20346647 PMID:20480175 PMID:20544271 PMID:20678261 PMID:20717907 PMID:20826828 PMID:20840352 PMID:20927582 PMID:20945614 PMID:20966255 PMID:20981092 PMID:21150274 PMID:21164480 PMID:21346221 PMID:21354641 PMID:21396839 PMID:21445571 PMID:21447618 PMID:21459046 PMID:21514219 PMID:21520333 PMID:21593342 PMID:21665257 PMID:21665297 PMID:21681852 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21833744 PMID:21893220 PMID:21910157 PMID:21933854 PMID:21965147 PMID:21993670 PMID:22006793 PMID:22017321 PMID:22071889 PMID:22109722 PMID:22130802 PMID:22146522 PMID:22200977 PMID:22213089 PMID:22234840 PMID:22250480 PMID:22345219 PMID:22354567 PMID:22369572 PMID:22406018 PMID:22420423 PMID:22438227 PMID:22520355 PMID:22527104 PMID:22529920 PMID:22585167 PMID:22585170 PMID:22649200 PMID:22674506 PMID:22763152 PMID:22869595 PMID:22895193 PMID:22927201 PMID:22927308 PMID:22952040 PMID:22995991 PMID:23074045 PMID:23075580 PMID:23091097 PMID:23114601 PMID:23142947 PMID:23143971 PMID:23211698 PMID:23242139 PMID:23264026 PMID:23322442 PMID:23360865 PMID:23369113 PMID:23376243 PMID:23454770 PMID:23509889 PMID:23532176 PMID:23555315 PMID:23561644 PMID:23566627 PMID:23585368 PMID:23585524 PMID:23612382 PMID:23632773 PMID:23640770 PMID:23652012 PMID:23667852 PMID:23671275 PMID:23726790 PMID:23761041 PMID:23774824 PMID:23807571 PMID:23810757 PMID:23836671 PMID:23946315 PMID:23960188 PMID:24033266 PMID:24088041 PMID:24090759 PMID:24113346 PMID:24120321 PMID:24142997 PMID:24172824 PMID:24197801 PMID:24201163 PMID:24204193 PMID:24325359 PMID:24326041 PMID:24356096 PMID:24368146 PMID:24405665 PMID:24416720 PMID:24422204 PMID:24448499 PMID:24506781 PMID:24512911 PMID:24549055 PMID:24556621 PMID:24568663 PMID:24628946 PMID:24643969 PMID:24667671 PMID:24682267 PMID:24695838 PMID:24728327 PMID:24733792 PMID:24763289 PMID:24789685 PMID:24825865 PMID:24831771 PMID:24834793 PMID:24853695 PMID:24886963 PMID:24920063 PMID:24935205 PMID:24951259 PMID:24954719 PMID:24970356 PMID:24983367 PMID:25032865 PMID:25037873 PMID:25040471 PMID:25042771 PMID:25058500 PMID:25077176 PMID:25085752 PMID:25101980 PMID:25117502 PMID:25122203 PMID:25133958 PMID:25148578 PMID:25151137 PMID:25159481 PMID:25182519 PMID:25186627 PMID:25186949 PMID:25231023 PMID:25232094 PMID:25257301 PMID:25275298 PMID:25303977 PMID:25318351 PMID:25320358 PMID:25326635 PMID:25326637 PMID:25330149 PMID:25356970 PMID:25374739 PMID:25428789 PMID:25452441 PMID:25460276 PMID:25479140 PMID:25480502 PMID:25502423 PMID:25503501 PMID:25523272 PMID:25525159 PMID:25572163 PMID:25586381 PMID:25587027 PMID:25589003 PMID:25600502 PMID:25614872 PMID:25625042 PMID:25640679 PMID:25677497 PMID:25741868 PMID:25741914 PMID:25741916 PMID:25742471 PMID:25749350 PMID:25793145 PMID:25862857 PMID:25877891 PMID:25882375 PMID:25892863 PMID:25914063 PMID:25925381 PMID:25925954 PMID:25938944 PMID:25957637 PMID:25980754 PMID:26009992 PMID:26010451 PMID:26022348 PMID:26023681 PMID:26053404 PMID:26085511 PMID:26094658 PMID:26098866 PMID:26112015 PMID:26123645 PMID:26155992 PMID:26164066 PMID:26181193 PMID:26182300 PMID:26193622 PMID:26206375 PMID:26207792 PMID:26214590 PMID:26220245 PMID:26225655 PMID:26238431 PMID:26246601 PMID:26247737 PMID:26250988 PMID:26270727 PMID:26296696 PMID:26296701 PMID:26317927 PMID:26320869 PMID:26344566 PMID:26380989 PMID:26416026 PMID:26439923 PMID:26466571 PMID:26467025 PMID:26483394 PMID:26506520 PMID:26517685 PMID:26530882 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26619011 PMID:26628246 PMID:26630574 PMID:26633542 PMID:26633545 PMID:26635394 PMID:26658419 PMID:26662178 PMID:26667234 PMID:26677768 PMID:26681312 PMID:26689913 PMID:26692440 PMID:26693373 PMID:26757417 PMID:26771497 PMID:26774591 PMID:26778106 PMID:26786923 PMID:26787654 PMID:26822949 PMID:26824983 PMID:26837699 PMID:26845104 PMID:26846839 PMID:26854966 PMID:26878173 PMID:26896183 PMID:26898890 PMID:26901136 PMID:26911350 PMID:26915675 PMID:26917275 PMID:26976419 PMID:27016235 PMID:27034805 PMID:27039262 PMID:27043212 PMID:27064202 PMID:27066513 PMID:27067391 PMID:27083775 PMID:27093186 PMID:27097373 PMID:27121310 PMID:27142713 PMID:27146902 PMID:27149842 PMID:27150160 PMID:27153395 PMID:27159176 PMID:27175599 PMID:27200287 PMID:27224988 PMID:27276934 PMID:27304073 PMID:27322425 PMID:27365426 PMID:27375234 PMID:27413114 PMID:27433846 PMID:27443514 PMID:27449771 PMID:27460089 PMID:27468087 PMID:27479817 PMID:27484032 PMID:27498913 PMID:27528516 PMID:27535334 PMID:27553368 PMID:27568332 PMID:27581129 PMID:27595995 PMID:27599564 PMID:27602502 PMID:27613453 PMID:27616075 PMID:27621404 PMID:27664052 PMID:27671921 PMID:27692705 PMID:27720647 PMID:27732944 PMID:27756406 PMID:27779110 PMID:27782108 PMID:27798748 PMID:27803004 PMID:27844328 PMID:27854218 PMID:27871447 PMID:27873105 PMID:27878467 PMID:27884168 PMID:27896999 PMID:27913932 PMID:27932211 PMID:27959900 PMID:27978560 PMID:27980538 PMID:27988859 PMID:27989354 PMID:27994516 PMID:27997549 PMID:28007021 PMID:28008555 PMID:28051113 PMID:28054583 PMID:28055970 PMID:28076423 PMID:28087566 PMID:28093192 PMID:28093616 PMID:28119368 PMID:28120234 PMID:28123174 PMID:28125075 PMID:28126470 PMID:28135048 PMID:28135145 PMID:28139868 PMID:28152038 PMID:28170084 PMID:28182994 PMID:28195393 PMID:28196074 PMID:28202063 PMID:28211887 PMID:28259476 PMID:28281021 PMID:28281318 PMID:28282032 PMID:28338653 PMID:28423360 PMID:28423363 PMID:28423702 PMID:28440963 PMID:28451460 PMID:28486781 PMID:28488180 PMID:28492530 PMID:28492532 PMID:28495237 PMID:28497333 PMID:28503720 PMID:28508083 PMID:28528518 PMID:28569218 PMID:28569743 PMID:28580595 PMID:28591191 PMID:28608266 PMID:28617965 PMID:28640387 PMID:28652578 PMID:28657667 PMID:28687356 PMID:28687971 PMID:28691344 PMID:28716242 PMID:28717660 PMID:28724467 PMID:28724667 PMID:28726808 PMID:28743247 PMID:28767289 PMID:28779002 PMID:28825054 PMID:28828701 PMID:28830922 PMID:28843361 PMID:28849312 PMID:28873162 PMID:28875981 PMID:28878254 PMID:28888541 PMID:28894253 PMID:28898322 PMID:28916186 PMID:28956312 PMID:28975018 PMID:28975465 PMID:29036293 PMID:29053726 PMID:29058119 PMID:29059438 PMID:29081736 PMID:29101607 PMID:29127364 PMID:29141312 PMID:29144541 PMID:29155101 PMID:29163336 PMID:29263802 PMID:29271107 PMID:29308099 PMID:29317520 PMID:29335925 PMID:29356034 PMID:29360161 PMID:29360550 PMID:29368341 PMID:29371908 PMID:29415044 PMID:29423082 PMID:29445900 PMID:29449433 PMID:29458332 PMID:29470806 PMID:29478780 PMID:29482223 PMID:29485843 PMID:29486991 PMID:29487225 PMID:29489040 PMID:29492593 PMID:29506079 PMID:29506128 PMID:29522266 PMID:29555025 PMID:29555771 PMID:29559559 PMID:29596542 PMID:29597095 PMID:29600275 PMID:29615459 PMID:29625052 PMID:29641532 PMID:29642553 PMID:29659569 PMID:29659587 PMID:29664460 PMID:29665859 PMID:29667044 PMID:29678143 PMID:29684080 PMID:29719442 PMID:29731985 PMID:29752822 PMID:29753700 PMID:29754934 PMID:29758562 PMID:29769598 PMID:29778231 PMID:29785153 PMID:29789584 PMID:29866652 PMID:29888287 PMID:29895855 PMID:29905759 PMID:29906526 PMID:29909963 PMID:29915322 PMID:29915382 PMID:29922827 PMID:29945567 PMID:29946849 PMID:29954938 PMID:29958926 PMID:29961768 PMID:29967250 PMID:30062048 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30113886 PMID:30124550 PMID:30128536 PMID:30154229 PMID:30159786 PMID:30181556 PMID:30192042 PMID:30197789 PMID:30214756 PMID:30233647 PMID:30253992 PMID:30256826 PMID:30262796 PMID:30267214 PMID:30274973 PMID:30279689 PMID:30283815 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30309722 PMID:30311369 PMID:30322717 PMID:30338439 PMID:30339652 PMID:30340782 PMID:30363071 PMID:30370249 PMID:30374176 PMID:30385609 PMID:30389154 PMID:30402232 PMID:30413523 PMID:30420857 PMID:30425284 PMID:30426508 PMID:30441849 PMID:30447919 PMID:30455982 PMID:30482293 PMID:30504431 PMID:30537493 PMID:30541756 PMID:30543347 PMID:30549301 PMID:30553997 PMID:30563988 PMID:30579816 PMID:30584090 PMID:30607632 PMID:30612635 PMID:30613976 PMID:30620386 PMID:30625039 PMID:30639167 PMID:30651582 PMID:30662270 PMID:30666157 PMID:30697212 PMID:30713859 PMID:30713931 PMID:30716324 PMID:30723761 PMID:30730459 PMID:30772474 PMID:30814645 PMID:30816533 PMID:30819809 PMID:30824826 PMID:30833958 PMID:30850667 PMID:30851086 PMID:30883245 PMID:30888062 PMID:30927251 PMID:30938815 PMID:30957677 PMID:30963573 PMID:30982232 PMID:30995915 PMID:31012270 PMID:31050087 PMID:31054420 PMID:31056428 PMID:31097817 PMID:31101757 PMID:31118792 PMID:31125277 PMID:31130284 PMID:31139954 PMID:31159747 PMID:31160347 PMID:31169336 PMID:31173646 PMID:31173964 PMID:31206626 PMID:31214250 PMID:31214711 PMID:31216378 PMID:31227566 PMID:31248605 PMID:31263571 PMID:31273614 PMID:31275557 PMID:31285527 PMID:31300551 PMID:31317629 PMID:31319225 PMID:31325073 PMID:31341520 PMID:31350202 PMID:31352369 PMID:31360874 PMID:31382929 PMID:31403082 PMID:31407689 PMID:31415627 PMID:31422574 PMID:31428572 PMID:31429931 PMID:31432501 PMID:31447099 PMID:31465090 PMID:31470354 PMID:31472684 PMID:31497750 PMID:31589614 PMID:31611883 PMID:31617914 PMID:31638252 PMID:31642931 PMID:31658756 PMID:31666926 PMID:31671381 PMID:31691010 PMID:31704732 PMID:31719806 PMID:31721094 PMID:31729406 PMID:31731261 PMID:31740029 PMID:31741144 PMID:31742824 PMID:31754145 PMID:31776720 PMID:31780696 PMID:31780705 PMID:31784482 PMID:31784493 PMID:31788995 PMID:31794323 PMID:31811167 PMID:31815095 PMID:31843900 PMID:31867841 PMID:31871109 PMID:31871297 PMID:31874108 PMID:31882575 PMID:31911633 PMID:31919090 PMID:31920950 PMID:31921190 PMID:31921681 PMID:31942411 PMID:31948886 PMID:31966388 PMID:31970404 PMID:32002120 PMID:32005694 PMID:32008151 PMID:32012241 PMID:32019284 PMID:32039725 PMID:32052936 PMID:32066632 PMID:32068069 PMID:32081490 PMID:32091409 PMID:32095276 PMID:32107087 PMID:32113160 PMID:32125938 PMID:32133419 PMID:32172615 PMID:32183301 PMID:32183364 PMID:32255556 PMID:32283892 PMID:32295079 PMID:32315455 PMID:32318955 PMID:32325837 PMID:32338768 PMID:32365798 PMID:32365829 PMID:32368696 PMID:32371905 PMID:32383162 PMID:32383811 PMID:32427313 PMID:32461654 PMID:32471518 PMID:32488064 PMID:32521533 PMID:32522261 PMID:32531373 PMID:32548172 PMID:32558426 PMID:32566746 PMID:32581083 PMID:32601921 PMID:32606146 PMID:32624572 PMID:32655291 PMID:32658311 PMID:32659497 PMID:32676327 PMID:32694154 PMID:32710489 PMID:32748564 PMID:32754152 PMID:32756499 PMID:32761968 PMID:32772458 PMID:32775531 PMID:32782288 PMID:32792570 PMID:32810930 PMID:32818697 PMID:32830346 PMID:32832836 PMID:32842532 PMID:32853339 PMID:32854451 PMID:32860008 PMID:32866190 PMID:32866655 PMID:32868316 PMID:32875559 PMID:32885271 PMID:32888943 PMID:32901917 PMID:32906206 PMID:32918381 PMID:32923906 PMID:32936981 PMID:32957588 PMID:32958592 PMID:32959997 PMID:32962506 PMID:32963463 PMID:32973888 PMID:32980694 PMID:32984025 PMID:32986223 PMID:32994724 PMID:32999401 PMID:33011440 PMID:33047316 PMID:33048355 PMID:33050356 PMID:33054084 PMID:33084218 PMID:33095795 PMID:33098801 PMID:33119476 PMID:33120919 PMID:33128190 PMID:33134171 PMID:33150793 PMID:33163394 PMID:33168809 PMID:33176972 PMID:33181636 PMID:33191115 PMID:33203166 PMID:33206719 PMID:33239428 PMID:33240400 PMID:33280026 PMID:33302456 PMID:33309985 PMID:33330270 PMID:33332384 PMID:33359728 PMID:33365035 PMID:33376610 PMID:33383211 PMID:33395407 PMID:33402103 PMID:33415580 PMID:33421217 PMID:33436325 PMID:33439686 PMID:33442023 PMID:33462019 PMID:33471191 PMID:33471991 PMID:33479248 PMID:33502066 PMID:33509806 PMID:33544757 PMID:33547824 PMID:33551102 PMID:33552952 PMID:33558524 PMID:33588785 PMID:33606809 PMID:33608381 PMID:33630411 PMID:33646313 PMID:33742106 PMID:33747920 PMID:33750258 PMID:33779842 PMID:33785725 PMID:33804961 PMID:33850299 PMID:33858029 PMID:33875564 PMID:33893081 PMID:33919281 PMID:33939675 PMID:33980423 PMID:34008015 PMID:34009545 PMID:34067464 PMID:34107524 PMID:34117267 PMID:34130653 PMID:34196900 PMID:34199532 PMID:34204722 PMID:34247626 PMID:34250389 PMID:34250417 PMID:34262154 PMID:34270679 PMID:34271781 PMID:34283047 PMID:34284872 PMID:34298181 PMID:34299313 PMID:34308104 PMID:34326862 PMID:34337741 PMID:34359559 PMID:34371384 PMID:34377931 PMID:34399810 PMID:34426522 PMID:34433815 PMID:34445196 PMID:34453918 PMID:34477817 PMID:34477998 PMID:34489640 PMID:34539671 PMID:34570441 PMID:34573280 PMID:34582042 PMID:34600502 PMID:34602955 PMID:34606182 PMID:34628594 PMID:34646395 PMID:34653963 PMID:34654685 PMID:34659905 PMID:34663476 PMID:34680501 PMID:34680878 PMID:34755017 PMID:34759960 PMID:34761457 PMID:34771661 PMID:34820595 PMID:34824606 PMID:34848827 PMID:34873480 PMID:34884835 PMID:34949663 PMID:34954471 PMID:34994613 PMID:35008949 PMID:35029067 PMID:35039564 PMID:35047863 PMID:35078243 PMID:35085662 PMID:35098669 PMID:35127508 PMID:35145552 PMID:35146455 PMID:35154108 PMID:35171259 PMID:35181726 PMID:35186721 PMID:35201558 PMID:35220195 PMID:35221880 PMID:35245693 PMID:35257272 PMID:35260754 PMID:35264596 PMID:35273153 PMID:35284771 PMID:35309086 PMID:35312250 PMID:35353237 PMID:35354106 PMID:35365198 PMID:35402282 PMID:35406420 PMID:35418818 PMID:35441217 PMID:35451682 PMID:35467778 PMID:35483985 PMID:35495172 PMID:35534218 PMID:35534704 PMID:35599270 PMID:35652560 PMID:35666082 PMID:35708139 PMID:35710434 PMID:35716007 PMID:35717579 PMID:35734982 PMID:35763645 PMID:35806449 PMID:35886069 PMID:35892882 PMID:35893033 PMID:35957908 PMID:35980532 PMID:36000185 PMID:36008414 PMID:36029002 PMID:36035419 PMID:36091166 PMID:36099812 PMID:36117189 PMID:36119527 PMID:36132150 PMID:36167400 PMID:36200007 PMID:36243179 PMID:36315513 PMID:36315919 PMID:36329109 PMID:36446039 PMID:36451132 PMID:36521553 PMID:36531003 PMID:36551643 PMID:36555667 PMID:36568162 PMID:36627197 PMID:36672847 PMID:36674612 PMID:36685941 PMID:36704080 PMID:36717774 PMID:36790564 PMID:36898365 PMID:36979741 PMID:36988593 PMID:37009283 PMID:37088804 PMID:37091313 PMID:37097610 PMID:37149759 PMID:37239058 PMID:37262986 PMID:37306523 PMID:37331604 PMID:37436117 PMID:37438524 PMID:37445923 PMID:37450374 PMID:37453313 PMID:37529773 PMID:37581139 PMID:37628581 PMID:37712079 PMID:37762649 PMID:38003901 PMID:38017116 PMID:38028594 PMID:38355628 PMID:38509102 PMID:39085400 PMID:197781682 PMID:19626507 PMID:28007901 More...
|
RGD:10053611, RGD:12879399 |
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437
|
|
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 chr20:5,102,334...5,111,615
Ensembl chr20:5,100,480...5,109,264
|
|
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 1:105,076,472...105,081,906
Ensembl chr 1:95,938,808...95,945,368
|
|
G |
Bik |
BCL2-interacting killer |
susceptibility |
ISO |
DNA:deletion:intron:IVS4-12delTC(human) |
RGD |
PMID:19898928 |
RGD:14394817 |
NCBI chr 7:116,552,303...116,571,317
Ensembl chr 7:114,672,277...114,691,296
|
|
G |
Birc2 |
baculoviral IAP repeat-containing 2 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:13,253,697...13,273,672
Ensembl chr 8:4,968,842...4,988,732
|
|
G |
Birc3 |
baculoviral IAP repeat-containing 3 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:5,000,845...5,015,802
|
|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 PMID:19206169 PMID:22495831 PMID:24446311 PMID:24920063 PMID:25348715 PMID:25741868 PMID:26732095 PMID:27276561 PMID:28492532 PMID:28524057 PMID:28947956 PMID:31475041 More...
|
|
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
|
|
G |
Btg4 |
BTG anti-proliferation factor 4 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796
|
|
G |
C8h11orf52 |
similar to human chromosome 11 open reading frame 52 |
|
ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
|
NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533
|
|
G |
C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
|
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: Louis-Bar syndrome 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: Cerebello-oculocutaneous telangiectasia |
ClinVar |
PMID:100011 PMID:581456 PMID:622825 PMID:988733 PMID:1065243 PMID:1098053 PMID:1160401 PMID:1849795 PMID:1943118 PMID:2166257 PMID:2557216 PMID:2675381 PMID:3338800 PMID:4012663 PMID:6504056 PMID:7792600 PMID:8659541 PMID:8665503 PMID:8698354 PMID:8755819 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:9450906 PMID:9463314 PMID:9488043 PMID:9497252 PMID:9536098 PMID:9537233 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: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:11839094 PMID:11849780 PMID:11857346 PMID:11897822 PMID:12072552 PMID:12072877 PMID:12091354 PMID:12149228 PMID:12195425 PMID:12400598 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:12935933 PMID:12958068 PMID:12969974 PMID:14562025 PMID:14576320 PMID:14586414 PMID:14627829 PMID:14628072 PMID:14643952 PMID:14654357 PMID:14695186 PMID:14695534 PMID:14706517 PMID:14754616 PMID:14970866 PMID:15039971 PMID:15101044 PMID:15159313 PMID:15174027 PMID:15196260 PMID:15279808 PMID:15390180 PMID:15450731 PMID:15696190 PMID:15756685 PMID:15843990 PMID:15880721 PMID:15928302 PMID:16014569 PMID:16140923 PMID:16158199 PMID:16167060 PMID:16189143 PMID:16199547 PMID:16238588 PMID:16266405 PMID:16380133 PMID:16387360 PMID:16411093 PMID:16461462 PMID:16603769 PMID:16622469 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:17389389 PMID:17393301 PMID:17517479 PMID:17540590 PMID:17576681 PMID:17600866 PMID:17623063 PMID:17640065 PMID:17910737 PMID:17923702 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:19147735 PMID:19347964 PMID:19404735 PMID:19431188 PMID:19440741 PMID:19535770 PMID:19605768 PMID:19650357 PMID:19691550 PMID:19763152 PMID:19779456 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:21665297 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21833744 PMID:21933854 PMID:21965147 PMID:21993670 PMID:22006793 PMID:22017321 PMID:22071889 PMID:22109722 PMID:22146522 PMID:22213089 PMID:22234840 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:22927201 PMID:22952040 PMID:22995991 PMID:23091097 PMID:23142947 PMID:23143971 PMID:23211698 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:24356096 PMID:24405665 PMID:24416720 PMID:24448499 PMID:24506781 PMID:24549055 PMID:24556621 PMID:24628946 PMID:24643969 PMID:24667671 PMID:24728327 PMID:24733792 PMID:24763289 PMID:24789685 PMID:24825865 PMID:24853695 PMID:24920063 PMID:24951259 PMID:24970356 PMID:24983367 PMID:25032865 PMID:25037873 PMID:25040471 PMID:25042771 PMID:25058500 PMID:25077176 PMID:25085752 PMID:25117502 PMID:25122203 PMID:25133958 PMID:25148578 PMID:25151137 PMID:25182519 PMID:25186627 PMID:25186949 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:25586381 PMID:25587027 PMID:25589003 PMID:25614872 PMID:25625042 PMID:25640679 PMID:25741868 PMID:25741916 PMID:25742471 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:26098866 PMID:26182300 PMID:26193622 PMID:26206375 PMID:26220245 PMID:26225655 PMID:26238431 PMID:26246601 PMID:26247737 PMID:26270727 PMID:26296696 PMID:26296701 PMID:26344566 PMID:26380989 PMID:26439923 PMID:26466571 PMID:26467025 PMID:26483394 PMID:26506520 PMID:26530882 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26628246 PMID:26630574 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:27066513 PMID:27067391 PMID:27083775 PMID:27097373 PMID:27121310 PMID:27142713 PMID:27153395 PMID:27159176 PMID:27175599 PMID:27200287 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:27692705 PMID:27720647 PMID:27732944 PMID:27798748 PMID:27854218 PMID:27871447 PMID:27873105 PMID:27878467 PMID:27884168 PMID:27913932 PMID:27932211 PMID:27959900 PMID:27978560 PMID:27988859 PMID:27989354 PMID:28007021 PMID:28008555 PMID:28051113 PMID:28076423 PMID:28093192 PMID:28093616 PMID:28120234 PMID:28125075 PMID:28126470 PMID:28135145 PMID:28139868 PMID:28152038 PMID:28170084 PMID:28188106 PMID:28195393 PMID:28259476 PMID:28338653 PMID:28423363 PMID:28486781 PMID:28492532 PMID:28495237 PMID:28503720 PMID:28508083 PMID:28569743 PMID:28580595 PMID:28591191 PMID:28608266 PMID:28652578 PMID:28687356 PMID:28691344 PMID:28716242 PMID:28717660 PMID:28724467 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28779002 PMID:28825054 PMID:28828701 PMID:28843361 PMID:28873162 PMID:28875981 PMID:28888541 PMID:28898322 PMID:28975465 PMID:29036293 PMID:29058119 PMID:29081736 PMID:29141312 PMID:29155101 PMID:29163336 PMID:29263802 PMID:29317520 PMID:29335925 PMID:29356034 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29415044 PMID:29445900 PMID:29470806 PMID:29478780 PMID:29482223 PMID:29485843 PMID:29506079 PMID:29506128 PMID:29522266 PMID:29555025 PMID:29555771 PMID:29559559 PMID:29596542 PMID:29600275 PMID:29625052 PMID:29641532 PMID:29659569 PMID:29664460 PMID:29665859 PMID:29667044 PMID:29678143 PMID:29684080 PMID:29719442 PMID:29752822 PMID:29753700 PMID:29758562 PMID:29785153 PMID:29888287 PMID:29905759 PMID:29906526 PMID:29909963 PMID:29915322 PMID:29915382 PMID:29922827 PMID:29945567 PMID:29946849 PMID:29954938 PMID:29958926 PMID:29961768 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30113886 PMID:30128536 PMID:30154229 PMID:30192042 PMID:30197789 PMID:30214756 PMID:30253992 PMID:30256826 PMID:30267214 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30311369 PMID:30322717 PMID:30338439 PMID:30339652 PMID:30363071 PMID:30374176 PMID:30385609 PMID:30413523 PMID:30426508 PMID:30441849 PMID:30447919 PMID:30482293 PMID:30504431 PMID:30541756 PMID:30549301 PMID:30579816 PMID:30607632 PMID:30612635 PMID:30613976 PMID:30620386 PMID:30651582 PMID:30697212 PMID:30723761 PMID:30730459 PMID:30772474 PMID:30814645 PMID:30819809 PMID:30850667 PMID:30851086 PMID:30883245 PMID:30888062 PMID:30927251 PMID:30982232 PMID:31012270 PMID:31050087 PMID:31054420 PMID:31056428 PMID:31097817 PMID:31101757 PMID:31118792 PMID:31125277 PMID:31130284 PMID:31139954 PMID:31159747 PMID:31160347 PMID:31173646 PMID:31206626 PMID:31214250 PMID:31214711 PMID:31216378 PMID:31248605 PMID:31263571 PMID:31273614 PMID:31275557 PMID:31285527 PMID:31319225 PMID:31325073 PMID:31341520 PMID:31352369 PMID:31382929 PMID:31403082 PMID:31407689 PMID:31422574 PMID:31429931 PMID:31447099 PMID:31465090 PMID:31611883 PMID:31617914 PMID:31691010 PMID:31731261 PMID:31740029 PMID:31741144 PMID:31742824 PMID:31754145 PMID:31780696 PMID:31784493 PMID:31811167 PMID:31815095 PMID:31843900 PMID:31871109 PMID:31882575 PMID:31911633 PMID:31919090 PMID:31920950 PMID:31921190 PMID:31921681 PMID:31948886 PMID:31966388 PMID:31970404 PMID:32002120 PMID:32008151 PMID:32039725 PMID:32068069 PMID:32091409 PMID:32095276 PMID:32107087 PMID:32113160 PMID:32125938 PMID:32133419 PMID:32183364 PMID:32255556 PMID:32283892 PMID:32295079 PMID:32325837 PMID:32338768 PMID:32365798 PMID:32365829 PMID:32383811 PMID:32427313 PMID:32471518 PMID:32488064 PMID:32522261 PMID:32548172 PMID:32558426 PMID:32566746 PMID:32601921 PMID:32606146 PMID:32655291 PMID:32658311 PMID:32676327 PMID:32694154 PMID:32748564 PMID:32754152 PMID:32756499 PMID:32772458 PMID:32782288 PMID:32792570 PMID:32810930 PMID:32832836 PMID:32853339 PMID:32854451 PMID:32860008 PMID:32875559 PMID:32885271 PMID:32906206 PMID:32918381 PMID:32936981 PMID:32957588 PMID:32963463 PMID:32980694 PMID:32986223 PMID:32994724 PMID:32999401 PMID:33011440 PMID:33048355 PMID:33050356 PMID:33054084 PMID:33095795 PMID:33098801 PMID:33119476 PMID:33128190 PMID:33134171 PMID:33163394 PMID:33239428 PMID:33280026 PMID:33309985 PMID:33330270 PMID:33332384 PMID:33376610 PMID:33395407 PMID:33402103 PMID:33421217 PMID:33436325 PMID:33439686 PMID:33442023 PMID:33471991 PMID:33502066 PMID:33509806 PMID:33547824 PMID:33551102 PMID:33552952 PMID:33558524 PMID:33606809 PMID:33608381 PMID:33630411 PMID:33646313 PMID:33747920 PMID:33750258 PMID:33804961 PMID:33850299 PMID:33858029 PMID:33919281 PMID:33939675 PMID:34067464 PMID:34117267 PMID:34130653 PMID:34196900 PMID:34199532 PMID:34204722 PMID:34247626 PMID:34250389 PMID:34250417 PMID:34262154 PMID:34270679 PMID:34271781 PMID:34284872 PMID:34298181 PMID:34299313 PMID:34326862 PMID:34337741 PMID:34359559 PMID:34371384 PMID:34377931 PMID:34426522 PMID:34445196 PMID:34477998 PMID:34570441 PMID:34573280 PMID:34582042 PMID:34600502 PMID:34602955 PMID:34606182 PMID:34628594 PMID:34646395 PMID:34653963 PMID:34663476 PMID:34680501 PMID:34680878 PMID:34755017 PMID:34759960 PMID:34761457 PMID:34771661 PMID:34848827 PMID:34873480 PMID:34949663 PMID:34954471 PMID:35008949 PMID:35029067 PMID:35039564 PMID:35047863 PMID:35078243 PMID:35127508 PMID:35146455 PMID:35154108 PMID:35171259 PMID:35181726 PMID:35186721 PMID:35201558 PMID:35221880 PMID:35245693 PMID:35260754 PMID:35264596 PMID:35273153 PMID:35309086 PMID:35312250 PMID:35353237 PMID:35354106 PMID:35365198 PMID:35402282 PMID:35467778 PMID:35495172 PMID:35534704 PMID:35666082 PMID:35708139 PMID:35710434 PMID:35716007 PMID:35734982 PMID:35763645 PMID:35806449 PMID:35886069 PMID:35892882 PMID:35893033 PMID:35957908 PMID:35980532 PMID:36029002 PMID:36091166 PMID:36099812 PMID:36119527 PMID:36200007 PMID:36243179 PMID:36315513 PMID:36315919 PMID:36446039 PMID:36451132 PMID:36521553 PMID:36531003 PMID:36555667 PMID:36568162 PMID:36627197 PMID:36672847 PMID:36704080 PMID:36790564 PMID:36898365 PMID:36988593 PMID:37009283 PMID:37091313 PMID:37262986 PMID:37331604 PMID:37438524 PMID:37445923 PMID:37450374 PMID:37529773 PMID:37581139 PMID:37628581 PMID:38003901 PMID:38017116 PMID:38028594 PMID:38355628 PMID:38509102 PMID:39085400 More...
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NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748
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G |
C8h11orf87 |
similar to human chromosome 11 open reading frame 87 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:53,062,361...53,069,882
Ensembl chr 8:53,062,360...53,069,538
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G |
Casp1 |
caspase 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,746,338...10,882,295
Ensembl chr 8:2,587,831...2,597,383
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G |
Casp12 |
caspase 12 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,927,188...10,954,442
Ensembl chr 8:2,642,434...2,674,037
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G |
Casp4 |
caspase 4 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:10,883,817...10,919,978
Ensembl chr 8:2,598,876...2,635,092
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G |
Ccdc82 |
coiled-coil domain containing 82 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:18,509,293...18,665,008
Ensembl chr 8:10,228,430...10,265,963
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G |
Cep126 |
centrosomal protein 126 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:5,200,576...5,267,740
Ensembl chr 8:5,218,509...5,267,467
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G |
Cep57 |
centrosomal protein 57 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:18,951,179...18,971,205
Ensembl chr 8:10,669,590...10,689,249
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G |
Cfap300 |
cilia and flagella associated protein 300 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807
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G |
Cfap68 |
cilia and flagella associated protein 68 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420
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G |
Cntn5 |
contactin 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:6,735,715...7,967,727
Ensembl chr 8:6,738,239...7,967,957
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G |
Cryab |
crystallin, alpha B |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:59,989,885...59,995,532
Ensembl chr 8:51,093,441...51,099,157
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G |
Cul5 |
cullin 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:62,909,150...62,974,641
Ensembl chr 8:54,016,006...54,066,666
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G |
Cwc15 |
CWC15 spliceosome-associated protein |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,305,401...11,316,326
Ensembl chr 8:11,305,424...11,316,325 Ensembl chr 2:11,305,424...11,316,325
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G |
Cwf19l2 |
CWF19 like cell cycle control factor 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 6:290,148...356,636
Ensembl chr 6:281,685...356,604
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G |
Dcun1d5 |
defective in cullin neddylation 1 domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,412,266...4,433,380
Ensembl chr 8:4,412,221...4,433,367
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G |
Ddi1 |
DNA-damage inducible 1 homolog 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:3,596,658...3,598,505
Ensembl chr 8:3,595,149...3,598,533
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G |
Ddx10 |
DEAD-box helicase 10 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:62,384,876...62,539,585
Ensembl chr 8:53,488,656...53,643,373
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G |
Dixdc1 |
DIX domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090
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G |
Dlat |
dihydrolipoamide S-acetyltransferase |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:59,875,537...59,900,947
Ensembl chr 8:50,978,051...51,004,479 Ensembl chr 1:50,978,051...51,004,479
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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G |
Elmod1 |
ELMO domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:54,298,363...54,355,348
Ensembl chr 8:54,298,363...54,355,140
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G |
Endod1 |
endonuclease domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:19,490,615...19,520,007
Ensembl chr 8:11,211,110...11,238,892
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G |
Exph5 |
exophilin 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:53,698,825...53,775,371
Ensembl chr 8:53,698,852...53,773,169
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G |
Fam76b |
family with sequence similarity 76, member B |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:18,971,357...18,993,442
Ensembl chr 8:10,688,963...10,711,861
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G |
Fdx1 |
ferredoxin 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:61,164,839...61,183,645
Ensembl chr 8:52,268,536...52,287,414
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G |
Fdxacb1 |
ferredoxin-fold anticodon binding domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:60,009,818...60,014,625
Ensembl chr 8:51,113,397...51,118,308
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G |
Fut4 |
fucosyltransferase 4 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:19,868,178...19,872,139
Ensembl chr 8:11,586,721...11,590,682
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G |
Gria4 |
glutamate ionotropic receptor AMPA type subunit 4 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:1,562,118...2,035,035
Ensembl chr 8:1,562,119...2,034,979
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G |
Gucy1a2 |
guanylate cyclase 1 soluble subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:8,785,212...9,174,322
Ensembl chr 8:500,212...889,203
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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 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164
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G |
Hoatz |
HOATZ cilia and flagella associated protein |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514
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G |
Hspb2 |
heat shock protein family B (small) member 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,093,267...51,094,528
Ensembl chr 8:51,081,342...51,094,533
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G |
Ifng |
interferon gamma |
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ISO |
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RGD |
PMID:6432389 |
RGD:8693328 |
NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375
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G |
Il2 |
interleukin 2 |
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ISO |
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RGD |
PMID:6432389 |
RGD:8693328 |
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566
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G |
Il6 |
interleukin 6 |
severity |
ISO |
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RGD |
PMID:26851119 |
RGD:11529801 |
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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G |
Jrkl |
JRK-like |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:18,505,808...18,508,704
Ensembl chr 8:10,224,172...10,227,068
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G |
Kbtbd3 |
kelch repeat and BTB domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:1,464,162...1,491,144
Ensembl chr 8:1,473,247...1,487,943
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G |
Kdm4d |
lysine demethylase 4D |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:19,561,253...19,586,412
Ensembl chr 8:11,268,859...11,305,290
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G |
Layn |
layilin |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330
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G |
Maml2 |
mastermind-like transcriptional coactivator 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:18,552,480...18,869,923
Ensembl chr 8:10,268,665...10,587,107
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G |
Mir34b |
microRNA 34b |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:60,306,609...60,306,692
Ensembl chr 8:51,410,244...51,410,327
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G |
Mir34c |
microRNA 34c |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:60,306,091...60,306,167
Ensembl chr 8:51,409,726...51,409,802
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G |
Mmp1 |
matrix metallopeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097
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G |
Mmp10 |
matrix metallopeptidase 10 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:12,974,707...12,982,613
Ensembl chr 8:4,689,840...4,697,748
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G |
Mmp12 |
matrix metallopeptidase 12 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:12,866,652...12,876,554
Ensembl chr 8:4,581,785...4,599,611
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G |
Mmp13 |
matrix metallopeptidase 13 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:12,782,829...12,793,108
Ensembl chr 8:4,497,960...4,508,239
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G |
Mmp20 |
matrix metallopeptidase 20 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035
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G |
Mmp27 |
matrix metallopeptidase 27 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,745,887...4,755,806
Ensembl chr 8:4,745,883...4,755,806
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G |
Mmp3 |
matrix metallopeptidase 3 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961
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G |
Mmp7 |
matrix metallopeptidase 7 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:13,133,043...13,140,761
Ensembl chr 8:4,848,186...4,855,902
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G |
Mmp8 |
matrix metallopeptidase 8 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:13,008,873...13,018,729
Ensembl chr 8:4,724,029...4,733,520
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G |
Mre11 |
MRE11 homolog, double strand break repair nuclease |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:19,900,211...19,961,906
Ensembl chr 8:11,632,354...11,678,279
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G |
Msantd4 |
Myb/SANT DNA binding domain containing 4 with coiled-coils |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:9,801,921...9,812,529
Ensembl chr 8:1,516,979...1,527,587
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G |
Msh6 |
mutS homolog 6 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia |
ClinVar |
PMID:23621914 PMID:25085752 PMID:25741868 PMID:26845104 PMID:27884168 PMID:28492532 PMID:30267214 More...
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NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:6,562,632...6,579,956
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G |
Mtmr2 |
myotubularin related protein 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:18,899,303...18,949,767
Ensembl chr 8:10,617,993...10,668,172
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G |
Nkapd1 |
NKAP domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830
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G |
Npat |
nuclear protein, co-activator of histone transcription |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381 |
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NCBI chr 8:53,932,993...53,970,875
Ensembl chr 8:53,932,993...53,970,875
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G |
Pdgfd |
platelet derived growth factor D |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:11,773,335...12,007,277
Ensembl chr 8:3,488,423...3,722,395
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G |
Pgr |
progesterone receptor |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:14,354,398...14,413,271
Ensembl chr 8:6,072,673...6,131,344
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G |
Pih1d2 |
PIH1 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656
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G |
Piwil4 |
piwi-like RNA-mediated gene silencing 4 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:19,817,985...19,861,327
Ensembl chr 8:11,536,520...11,579,761
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G |
Poglut3 |
protein O-glucosyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:53,777,614...53,795,404
Ensembl chr 8:53,777,785...53,795,399
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G |
Pou2af1 |
POU class 2 homeobox associating factor 1 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:60,418,173...60,445,176
Ensembl chr 8:51,474,015...51,548,819
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G |
Pou2af2 |
POU class 2 homeobox associating factor 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:60,504,292...60,544,996
Ensembl chr 8:51,607,763...51,648,628
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G |
Pou2af3 |
POU class 2 homeobox associating factor 3 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:60,484,596...60,493,475
Ensembl chr 8:51,588,237...51,603,855
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G |
Ppp2r1b |
protein phosphatase 2 scaffold subunit A beta |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:60,092,540...60,125,512
Ensembl chr 8:51,186,717...51,228,485
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G |
Rab39a |
RAB39A, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:54,088,246...54,105,867
Ensembl chr 8:54,088,129...54,106,483
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G |
Rdx |
radixin |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:61,275,792...61,348,260
Ensembl chr 8:52,379,494...52,437,678
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G |
Sdhd |
succinate dehydrogenase complex subunit D |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:50,944,704...50,954,238
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G |
Sesn3 |
sestrin 3 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:19,415,307...19,470,943
Ensembl chr 8:11,133,678...11,185,842
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G |
Sik2 |
salt-inducible kinase 2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:60,121,913...60,221,707
Ensembl chr 8:51,225,543...51,325,415
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G |
Slc35f2 |
solute carrier family 35, member F2 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:54,159,970...54,203,614
Ensembl chr 8:54,159,970...54,203,612
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G |
Sln |
sarcolipin |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:63,117,577...63,144,290
Ensembl chr 8:54,243,542...54,247,791
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G |
Timm8b |
translocase of inner mitochondrial membrane 8 homolog B |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:59,850,737...59,852,117
Ensembl chr 8:50,954,342...50,955,729
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G |
Tmem123 |
transmembrane protein 123 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:4,922,077...4,952,228
Ensembl chr 8:4,922,098...4,952,224
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G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:14,044,216...14,148,808
Ensembl chr 8:5,758,935...5,828,092
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G |
Yap1 |
Yes1 associated transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:13,380,551...13,451,640
Ensembl chr 8:5,095,722...5,167,010
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G |
Zc3h12c |
zinc finger CCCH type containing 12C |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome |
ClinVar |
PMID:23807571 PMID:25614872 PMID:28492532 |
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NCBI chr 8:61,340,446...61,404,932
Ensembl chr 8:52,448,320...52,504,315
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G |
Mre11 |
MRE11 homolog, double strand break repair nuclease |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder |
CTD ClinVar |
PMID:2433832 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:16199547 PMID:16858402 PMID:17576681 PMID:18854157 PMID:19383352 PMID:19732584 PMID:19763152 PMID:20052722 PMID:20307669 PMID:20805886 PMID:21227757 PMID:21252998 PMID:22006311 PMID:22078559 PMID:22139912 PMID:22406018 PMID:22705791 PMID:22863007 PMID:23028188 PMID:23080121 PMID:23436002 PMID:23718828 PMID:23755103 PMID:23912341 PMID:24030952 PMID:24033266 PMID:24093751 PMID:24332946 PMID:24549055 PMID:24556621 PMID:24733832 PMID:24763289 PMID:24894818 PMID:25040471 PMID:25133958 PMID:25326635 PMID:25326637 PMID:25452441 PMID:25503501 PMID:25640679 PMID:25741868 PMID:26057807 PMID:26122175 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26556299 PMID:26580448 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:28008555 PMID:28051113 PMID:28125075 PMID:28152038 PMID:28202063 PMID:28486781 PMID:28492532 PMID:28524162 PMID:28559769 PMID:28699156 PMID:28715532 PMID:28849312 PMID:28873162 PMID:28888541 PMID:28975465 PMID:29170652 PMID:29348823 PMID:29371908 PMID:29478780 PMID:29752822 PMID:29922827 PMID:30093976 PMID:30306255 PMID:30441849 PMID:30613976 PMID:30924587 PMID:31033087 PMID:31159747 PMID:31273614 PMID:31353207 PMID:31360874 PMID:31780696 PMID:31887429 PMID:32039725 PMID:32183364 PMID:32283892 PMID:32295625 PMID:32338768 PMID:32427313 PMID:32449991 PMID:32521533 PMID:32566746 PMID:32658311 PMID:32832836 PMID:32959997 PMID:32986223 PMID:33098801 PMID:33134171 PMID:33326660 PMID:33426167 PMID:33471991 PMID:33479248 PMID:33510186 PMID:33624863 PMID:33956305 PMID:34009545 PMID:34075539 PMID:34426522 PMID:35089076 PMID:35273153 PMID:35495172 PMID:35534704 PMID:36035419 PMID:36050397 PMID:36091175 PMID:36113475 PMID:37013556 More...
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NCBI chr 8:19,900,211...19,961,906
Ensembl chr 8:11,632,354...11,678,279
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G |
Pcna |
proliferating cell nuclear antigen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995
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G |
Pik3r5 |
phosphoinositide-3-kinase, regulatory subunit 5 |
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ISO |
ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 | ClinVar Annotator: match by term: PIK3R5-related condition |
OMIM ClinVar |
PMID:22065524 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33116287 |
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NCBI chr10:53,631,469...53,699,550
Ensembl chr10:53,132,603...53,199,374
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G |
Pnkp |
polynucleotide kinase 3'-phosphatase |
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ISO |
ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 |
OMIM ClinVar |
PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 PMID:18005052 PMID:18266750 PMID:18414213 PMID:18678442 PMID:18845387 PMID:20118933 PMID:21307862 PMID:21560189 PMID:22508754 PMID:23224214 PMID:23833122 PMID:24033266 PMID:24938145 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:27066567 PMID:27125728 PMID:27890643 PMID:28492532 PMID:29261713 PMID:29652299 PMID:29655203 PMID:29720203 PMID:30039206 PMID:31061747 PMID:31436889 PMID:31707899 PMID:32010037 PMID:32056211 PMID:32123317 PMID:32347949 PMID:32980744 PMID:33654647 PMID:34009545 PMID:34040816 PMID:34697416 PMID:35354845 PMID:37301908 More...
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NCBI chr 1:95,341,465...95,346,921
Ensembl chr 1:95,341,620...95,346,920
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G |
Atm |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Ataxia - telangiectasia variant | ClinVar Annotator: match by term: Ataxia-telangiectasia variant |
ClinVar |
PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 PMID:9288106 PMID:9463314 PMID:9536098 PMID:9792410 PMID:9887333 PMID:9892178 PMID:10234507 PMID:10330348 PMID:11382771 PMID:11805335 PMID:11826028 PMID:11830610 PMID:12072552 PMID:12969974 PMID:14562025 PMID:14654357 PMID:15054841 PMID:15174027 PMID:15928302 PMID:16832357 PMID:16958054 PMID:17001622 PMID:17576681 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19535770 PMID:19650357 PMID:19781682 PMID:19823873 PMID:20301790 PMID:20305132 PMID:21778326 PMID:21787400 PMID:21792198 PMID:22345219 PMID:22529920 PMID:22585167 PMID:23143971 PMID:24088041 PMID:24733792 PMID:25037873 PMID:25040471 PMID:25077176 PMID:25186627 PMID:25741868 PMID:25914063 PMID:25980754 PMID:26467025 PMID:26506520 PMID:26633545 PMID:26662178 PMID:26681312 PMID:26896183 PMID:26898890 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27884168 PMID:27978560 PMID:27988859 PMID:28008555 PMID:28126470 PMID:28492532 PMID:28779002 PMID:29719442 PMID:29915382 PMID:30504431 PMID:30549301 PMID:31447099 PMID:32255556 PMID:32338768 PMID:32427313 PMID:32748564 PMID:32754152 PMID:32853339 PMID:33436325 PMID:33471991 PMID:33509806 PMID:34117267 PMID:35534218 PMID:35710434 PMID:35716007 More...
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NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437
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C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
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ISO |
ClinVar Annotator: match by term: Ataxia - telangiectasia variant | ClinVar Annotator: match by term: Ataxia-telangiectasia variant |
ClinVar |
PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 PMID:9288106 PMID:9463314 PMID:9792410 PMID:9887333 PMID:9892178 PMID:10234507 PMID:10330348 PMID:11382771 PMID:11805335 PMID:11826028 PMID:11830610 PMID:12072552 PMID:12969974 PMID:14562025 PMID:14654357 PMID:15174027 PMID:15928302 PMID:16832357 PMID:16958054 PMID:17001622 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19650357 PMID:19781682 PMID:19823873 PMID:20301790 PMID:20305132 PMID:21787400 PMID:21792198 PMID:22345219 PMID:22529920 PMID:22585167 PMID:23143971 PMID:24088041 PMID:24733792 PMID:25037873 PMID:25040471 PMID:25077176 PMID:25186627 PMID:25741868 PMID:25914063 PMID:25980754 PMID:26467025 PMID:26506520 PMID:26633545 PMID:26662178 PMID:26681312 PMID:26896183 PMID:26898890 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27884168 PMID:27978560 PMID:27988859 PMID:28008555 PMID:28492532 PMID:28779002 PMID:29719442 PMID:29915382 PMID:30504431 PMID:30549301 PMID:31447099 PMID:32255556 PMID:32338768 PMID:32427313 PMID:32748564 PMID:32754152 PMID:32853339 PMID:33436325 PMID:33471991 PMID:33509806 PMID:34117267 PMID:35710434 More...
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NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748
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Mre11 |
MRE11 homolog, double strand break repair nuclease |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 | ClinVar Annotator: match by term: MRE11-related condition |
OMIM ClinVar |
PMID:2433832 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:15574463 PMID:16199547 PMID:16858402 PMID:17576681 PMID:18652530 PMID:18854157 PMID:19383352 PMID:19732584 PMID:20052722 PMID:20805886 PMID:21227757 PMID:21252998 PMID:21324166 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:24332946 PMID:24549055 PMID:24556621 PMID:24733832 PMID:24763289 PMID:24894818 PMID:25040471 PMID:25133958 PMID:25326635 PMID:25326637 PMID:25452441 PMID:25503501 PMID:25640679 PMID:25741868 PMID:26057807 PMID:26122175 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26633542 PMID:26680607 PMID:26757417 PMID:26786923 PMID:26787654 PMID:26845104 PMID:26878173 PMID:26898890 PMID:27124789 PMID:27153395 PMID:27329137 PMID:27433846 PMID:27621404 PMID:27783279 PMID:27878467 PMID:28008555 PMID:28051113 PMID:28125075 PMID:28152038 PMID:28202063 PMID:28486781 PMID:28492532 PMID:28524162 PMID:28559769 PMID:28715532 PMID:28849312 PMID:28873162 PMID:28888541 PMID:29170652 PMID:29348823 PMID:29371908 PMID:29478780 PMID:29752822 PMID:29922827 PMID:30093976 PMID:30306255 PMID:30441849 PMID:30613976 PMID:30924587 PMID:31033087 PMID:31159747 PMID:31273614 PMID:31353207 PMID:31360874 PMID:31780696 PMID:31887429 PMID:32039725 PMID:32183364 PMID:32283892 PMID:32295625 PMID:32338768 PMID:32427313 PMID:32449991 PMID:32521533 PMID:32566746 PMID:32658311 PMID:32832836 PMID:32959997 PMID:32986223 PMID:33098801 PMID:33134171 PMID:33326660 PMID:33426167 PMID:33471991 PMID:33479248 PMID:33510186 PMID:33624863 PMID:33956305 PMID:34009545 PMID:34075539 PMID:34426522 PMID:35089076 PMID:35273153 PMID:35495172 PMID:35534704 PMID:36035419 PMID:36091175 PMID:36113475 More...
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NCBI chr 8:19,900,211...19,961,906
Ensembl chr 8:11,632,354...11,678,279
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Pcna |
proliferating cell nuclear antigen |
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ISO |
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 | ClinVar Annotator: match by term: PCNA-related condition |
OMIM ClinVar |
PMID:24911150 PMID:25741868 PMID:28492532 |
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NCBI chr 3:139,951,948...139,955,820
Ensembl chr 3:119,498,810...119,502,995
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A2m |
alpha-2-macroglobulin |
treatment |
ISO |
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RGD |
PMID:10848441 |
RGD:10046010 |
NCBI chr 4:156,570,163...156,619,870
Ensembl chr 4:154,897,877...154,947,786
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Cat |
catalase |
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ISO |
associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum: |
RGD |
PMID:24092995 |
RGD:9068931 |
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
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Flt1 |
Fms related receptor tyrosine kinase 1 |
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ISO |
protein:decreased expression:aqueous humor: |
RGD |
PMID:23853629 |
RGD:10402120 |
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
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G |
Map3k8 |
mitogen-activated protein kinase kinase kinase 8 |
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ISO |
protein:increased activity:serum: |
RGD |
PMID:28724746 |
RGD:151356966 |
NCBI chr17:58,078,175...58,098,455
Ensembl chr17:53,383,131...53,403,216
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Pdgfb |
platelet derived growth factor subunit B |
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ISO |
protein:decreased expression:vitreous: |
RGD |
PMID:19799585 |
RGD:10449447 |
NCBI chr 7:113,419,882...113,438,343
Ensembl chr 7:111,540,345...111,557,984
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Proc |
protein C, inactivator of coagulation factors Va and VIIIa |
treatment |
ISO |
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RGD |
PMID:20688738 |
RGD:11100028 |
NCBI chr18:24,038,596...24,049,061
Ensembl chr18:23,764,368...23,775,133
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G |
Serpinf1 |
serpin family F member 1 |
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IEP |
protein:increased expression:neuroretina (rat) |
RGD |
PMID:21487926 |
RGD:5490120 |
NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646
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G |
Ctc1 |
CST telomere replication complex component 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coats plus syndrome |
CTD ClinVar |
PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 PMID:25182133 PMID:25741868 PMID:28492532 PMID:30891747 More...
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NCBI chr10:54,212,537...54,234,146
Ensembl chr10:53,714,644...53,735,298
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Stn1 |
STN1 subunit of CST complex |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:256,336,916...256,371,143
Ensembl chr 1:246,395,613...246,429,531
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Ctc1 |
CST telomere replication complex component 1 |
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ISO |
ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25197929 PMID:25741868 PMID:25843205 PMID:28492532 PMID:28864049 PMID:29111009 PMID:29146883 PMID:29228254 PMID:29481669 PMID:30523342 PMID:30891747 PMID:33510405 PMID:34573280 PMID:34706368 More...
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NCBI chr10:54,212,537...54,234,146
Ensembl chr10:53,714,644...53,735,298
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Pfas |
phosphoribosylformylglycinamidine synthase |
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ISO |
ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 |
ClinVar |
PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 PMID:29481669 More...
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NCBI chr10:54,189,157...54,210,685
Ensembl chr10:53,691,626...53,708,420
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Stn1 |
STN1 subunit of CST complex |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 | ClinVar Annotator: match by term: STN1-related condition |
OMIM ClinVar |
PMID:25741868 PMID:27432940 PMID:28492532 |
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NCBI chr 1:256,336,916...256,371,143
Ensembl chr 1:246,395,613...246,429,531
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Pot1 |
protection of telomeres 1 |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 |
ClinVar OMIM |
PMID:27013236 PMID:28492532 |
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NCBI chr 4:55,170,821...55,228,588
Ensembl chr 4:54,205,332...54,263,042
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Lrrc32 |
leucine rich repeat containing 32 |
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ISO |
ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay |
OMIM ClinVar |
PMID:25741868 PMID:30976112 |
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NCBI chr 1:162,196,995...162,209,563
Ensembl chr 1:152,786,511...152,798,373
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Fzd4 |
frizzled class receptor 4 |
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ISO |
ClinVar Annotator: match by term: Coats disease |
ClinVar |
PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 More...
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NCBI chr 1:152,692,507...152,701,372
Ensembl chr 1:143,280,065...143,285,724
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Ndp |
norrin cystine knot growth factor NDP |
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ISO |
ClinVar Annotator: match by term: Exudative retinopathy |
ClinVar |
PMID:26908610 |
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NCBI chr X:8,379,569...8,404,019
Ensembl chr X:5,796,487...5,820,934
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Pcdh12 |
protocadherin 12 |
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ISO |
ClinVar Annotator: match by term: Exudative retinopathy |
ClinVar |
PMID:25741868 PMID:30459466 |
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NCBI chr18:30,354,910...30,370,485
Ensembl chr18:30,103,728...30,119,307
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G |
Prss23 |
serine protease 23 |
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ISO |
ClinVar Annotator: match by term: Coats disease |
ClinVar |
PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 More...
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NCBI chr 1:152,815,301...152,835,005
Ensembl chr 1:143,401,396...143,422,091
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Rcbtb1 |
RCC1 and BTB domain containing protein 1 |
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ISO |
ClinVar Annotator: match by term: Coats disease | ClinVar Annotator: match by term: Exudative retinopathy |
ClinVar |
PMID:25741868 PMID:26908610 PMID:28492532 PMID:31494449 |
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NCBI chr15:37,430,453...37,477,920
Ensembl chr15:33,319,586...33,365,302
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Rho |
rhodopsin |
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ISO |
ClinVar Annotator: match by term: Exudative retinopathy |
ClinVar |
PMID:7987331 PMID:9380676 PMID:10967073 PMID:25741868 PMID:28492532 PMID:30977563 More...
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NCBI chr 4:150,653,205...150,658,367
Ensembl chr 4:148,980,611...148,985,773
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Rnf14 |
ring finger protein 14 |
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ISO |
ClinVar Annotator: match by term: Exudative retinopathy |
ClinVar |
PMID:25741868 PMID:30459466 |
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NCBI chr18:30,381,072...30,406,859
Ensembl chr18:30,131,691...30,155,685
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Cenpc |
centromere protein C |
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ISO |
associated with Anticentromere antibody positivity |
RGD |
PMID:25220385 |
RGD:27372886 |
NCBI chr14:22,342,910...22,401,522
Ensembl chr14:21,988,144...22,055,476
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Fbn1 |
fibrillin 1 |
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ISO |
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RGD |
PMID:10395706 |
RGD:12910471 |
NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889
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Atr |
ATR serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome |
OMIM ClinVar |
PMID:9536098 PMID:15987455 PMID:17010193 PMID:17576681 PMID:18414213 PMID:22341969 PMID:24033266 PMID:25741868 PMID:26845104 PMID:28492532 PMID:28518168 PMID:30262796 PMID:30995915 PMID:32461654 PMID:32522261 PMID:32606146 PMID:33057211 PMID:34008015 More...
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NCBI chr 8:105,306,299...105,403,742
Ensembl chr 8:96,426,724...96,524,136
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Ace |
angiotensin I converting enzyme |
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ISO |
ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 3 |
ClinVar |
PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 PMID:2847529 PMID:2849100 PMID:7593601 PMID:7729604 PMID:7783416 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 PMID:20093180 PMID:21471972 PMID:22095942 PMID:24163131 PMID:25741868 PMID:28492532 More...
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NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
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Adcy3 |
adenylate cyclase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25381014 |
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NCBI chr 6:32,819,602...32,923,174
Ensembl chr 6:27,124,828...27,203,686
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G |
Adcy8 |
adenylate cyclase 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25381014 |
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NCBI chr 7:98,306,434...98,555,687
Ensembl chr 7:96,417,324...96,665,911
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G |
Ager |
advanced glycosylation end product-specific receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20372816 |
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NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
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G |
Alb |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19733855 |
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NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836
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G |
Ass1 |
argininosuccinate synthase 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:25033204 |
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NCBI chr 3:35,144,765...35,194,632
Ensembl chr 3:14,747,368...14,796,903
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G |
Bdkrb1 |
bradykinin receptor B1 |
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IMP |
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RGD |
PMID:15878326 |
RGD:7241570 |
NCBI chr 6:130,275,631...130,284,968
Ensembl chr 6:124,510,870...124,513,747
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G |
Casp3 |
caspase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25381014 |
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NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
IDA |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:23154660 |
RGD:11526153 |
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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Cd28 |
Cd28 molecule |
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ISO |
associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:T cell |
RGD |
PMID:15504310 |
RGD:2307197 |
NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685
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G |
Cd40lg |
CD40 ligand |
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ISO |
protein:increased expression:serum |
RGD |
PMID:14963650 |
RGD:2314223 |
NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306
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G |
Crem |
cAMP responsive element modulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25381014 |
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NCBI chr17:58,932,011...59,001,160
Ensembl chr17:54,239,030...54,305,989
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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 4:152,060,781...152,073,628
Ensembl chr 4:150,388,325...150,401,168
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Epo |
erythropoietin |
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ISO |
ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 2 |
OMIM ClinVar |
PMID:18458324 |
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NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946
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G |
F3 |
coagulation factor III, tissue factor |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent protein:increased expression:plasma |
RGD |
PMID:16371118 PMID:9285207 |
RGD:2313861, RGD:2313868 |
NCBI chr 2:212,511,675...212,523,375
Ensembl chr 2:209,826,959...209,838,668
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G |
Fas |
Fas cell surface death receptor |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent |
RGD |
PMID:15803113 |
RGD:2315753 |
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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G |
Faslg |
Fas ligand |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:25381014 PMID:15803113 |
RGD:2315753 |
NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215
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G |
Fn1 |
fibronectin 1 |
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IDA |
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RGD |
PMID:12716757 |
RGD:1601179 |
NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678
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G |
Gch1 |
GTP cyclohydrolase 1 |
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ISO |
associated with type 2 diabetes mellitus;DNA:SNV: :C59038T (human) |
RGD |
PMID:19515581 |
RGD:329961327 |
NCBI chr15:22,884,006...22,917,412
Ensembl chr15:20,402,527...20,437,698
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
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ISO |
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RGD |
PMID:21411989 |
RGD:7242686 |
NCBI chr10:55,831,901...55,856,729
Ensembl chr10:55,352,899...55,356,774
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G |
Gpx1 |
glutathione peroxidase 1 |
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ISO |
cardiovascular complications in type 2 diabetics |
RGD |
PMID:16338763 |
RGD:1600708 |
NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024
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G |
Gsr |
glutathione-disulfide reductase |
|
ISO |
cardiovascular complications in type 2 diabetics |
RGD |
PMID:16338763 |
RGD:1600708 |
NCBI chr16:65,185,574...65,228,742
Ensembl chr16:58,482,505...58,525,661
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G |
Hfe |
homeostatic iron regulator |
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ISO |
ClinVar Annotator: match by term: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 | ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 7 |
ClinVar |
PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 PMID:9024376 PMID:9138148 PMID:9162021 PMID:9211748 PMID:9321765 PMID:9326341 PMID:9328324 PMID:9341868 PMID:9356458 PMID:9439654 PMID:9462220 PMID:9482831 PMID:9585606 PMID:9851896 PMID:9851897 PMID:10194428 PMID:10381492 PMID:10401000 PMID:10431233 PMID:10575540 PMID:10660483 PMID:11040194 PMID:11336458 PMID:11532995 PMID:11812557 PMID:11903354 PMID:12241803 PMID:12377814 PMID:12429850 PMID:12436244 PMID:12542741 PMID:12584229 PMID:12693884 PMID:12707220 PMID:12915468 PMID:14618419 PMID:14729817 PMID:15060098 PMID:15070663 PMID:15254010 PMID:15280838 PMID:15347835 PMID:15350019 PMID:15858186 PMID:16132052 PMID:16879202 PMID:17389307 PMID:17450498 PMID:17828789 PMID:18199861 PMID:18499578 PMID:18504828 PMID:18566337 PMID:19084217 PMID:19159930 PMID:19429178 PMID:19444013 PMID:19554541 PMID:19681031 PMID:20107990 PMID:20301613 PMID:20471131 PMID:21243428 PMID:21452290 PMID:22531912 PMID:23178241 PMID:23953397 PMID:24033266 PMID:24604426 PMID:25457201 PMID:25728773 PMID:25741868 PMID:25741869 PMID:25850353 PMID:26153218 PMID:26365338 PMID:27124787 PMID:27173269 PMID:27518069 PMID:27659401 PMID:27890643 PMID:28492532 PMID:29404719 PMID:31061747 PMID:31436889 PMID:31980526 PMID:32153640 PMID:37260121 More...
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NCBI chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502
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G |
Hmox1 |
heme oxygenase 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16959961 |
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NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079
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G |
Hp |
haptoglobin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16597321 |
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NCBI chr19:54,449,151...54,453,701
Ensembl chr19:37,539,627...37,544,523
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G |
Icam1 |
intercellular adhesion molecule 1 |
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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 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
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G |
Igfbp1 |
insulin-like growth factor binding protein 1 |
|
ISO |
DNA:SNPs |
RGD |
PMID:16306374 |
RGD:1625238 |
NCBI chr14:86,261,277...86,266,344
Ensembl chr14:82,047,415...82,052,482
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G |
Il1rn |
interleukin 1 receptor antagonist |
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ISO |
ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 4 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445
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G |
Itgam |
integrin subunit alpha M |
|
ISO |
protein:increased expression:neutrophil (human) |
RGD |
PMID:18496641 |
RGD:329901826 |
NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:182,659,000...182,709,503
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G |
Mmp14 |
matrix metallopeptidase 14 |
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ISO |
|
RGD |
PMID:12477149 |
RGD:1582581 |
NCBI chr15:31,857,824...31,867,049
Ensembl chr15:27,887,727...27,899,864
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G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16681562 |
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NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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G |
Nos2 |
nitric oxide synthase 2 |
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IEP IMP |
associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea |
RGD |
PMID:19241604 PMID:19587355 |
RGD:4891384, RGD:2313210 |
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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G |
Nos3 |
nitric oxide synthase 3 |
treatment |
IEP ISO |
associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12124201 PMID:19241604 PMID:29329611 |
RGD:4891384, RGD:13504708 |
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166
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G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
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ISO |
associated with Diabetes Mellitus, Experimental;protein:increased tyrosine phosphorylation:conceptus |
RGD |
PMID:10329590 |
RGD:2311657 |
NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116
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G |
Plat |
plasminogen activator, tissue type |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent |
RGD |
PMID:18945481 |
RGD:2311663 |
NCBI chr16:75,943,061...76,022,037
Ensembl chr16:69,240,585...69,268,223
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G |
Pon1 |
paraoxonase 1 |
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ISO |
associated with Diabetes Mellitus;DNA:polymorphisms: p.L55M, p.Q192R (human) ClinVar Annotator: match by term: RETINOPATHY, DIABETIC, SUSCEPTIBILITY TO |
ClinVar RGD |
PMID:9011577 PMID:9661650 PMID:11335891 PMID:11788650 PMID:11889198 PMID:11918623 PMID:25741868 PMID:17949258 More...
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RGD:2313270 |
NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360
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G |
Ptk2b |
protein tyrosine kinase 2 beta |
treatment |
IDA |
associated with Diabetes Mellitus, Type 2 |
RGD |
PMID:21926342 |
RGD:10041069 |
NCBI chr15:44,536,275...44,656,754
Ensembl chr15:40,360,723...40,481,282
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G |
Rbp4 |
retinol binding protein 4 |
disease_progression |
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:33294897 |
RGD:329853310 |
NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399
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G |
Rela |
RELA proto-oncogene, NF-kB subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25381014 |
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NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:202,924,945...202,935,484
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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 chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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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 chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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G |
Serpinf1 |
serpin family F member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25381014 |
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NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646
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G |
Sod1 |
superoxide dismutase 1 |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent |
RGD |
PMID:16338763 |
RGD:1600708 |
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
ClinVar Annotator: match by term: SUPEROXIDE DISMUTASE 2 POLYMORPHISM |
OMIM ClinVar |
PMID:8633092 PMID:10425186 PMID:12624725 PMID:15591282 PMID:16538174 PMID:17192491 More...
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NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189
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G |
Sparc |
secreted protein acidic and cysteine rich |
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IEP |
associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:mesentery, blood vessel |
RGD |
PMID:10625572 |
RGD:2300063 |
NCBI chr10:40,017,065...40,038,816
Ensembl chr10:39,516,406...39,538,396
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G |
Thbs1 |
thrombospondin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25381014 |
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NCBI chr 3:125,510,250...125,525,402
Ensembl chr 3:105,056,292...105,071,440
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G |
Thbs2 |
thrombospondin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25381014 |
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NCBI chr 1:64,343,523...64,372,918
Ensembl chr 1:55,670,394...55,699,789
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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 chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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G |
Vegfa |
vascular endothelial growth factor A |
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IEP ISO |
protein:increased expression:cochlea: ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 1 | ClinVar Annotator: match by term: VEGFA-related condition |
ClinVar OMIM RGD |
PMID:11978667 PMID:28492532 PMID:19241604 |
RGD:4891384 |
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
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ISO |
protein:decreased expression:plasma |
RGD |
PMID:20836881 |
RGD:5686889 |
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
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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 chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
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G |
Crp |
C-reactive protein |
disease_progression |
ISO |
protein:increased expression:blood: |
RGD |
PMID:22712631 |
RGD:6906887 |
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178
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G |
Gja1 |
gap junction protein, alpha 1 |
|
ISO |
protein:increased expression:dermis |
RGD |
PMID:22455314 |
RGD:7207269 |
NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582
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G |
H19 |
H19 imprinted maternally expressed transcript |
ameliorates |
ISO |
RNA:increased expression:foot (human) |
RGD |
PMID:33174326 PMID:33174326 |
RGD:156451663, RGD:156451663 |
NCBI chr 1:207,160,175...207,162,851
Ensembl chr 1:197,730,698...197,733,134
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
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ISO |
mRNA,protein:decreased expression:blood serum, foot (human) |
RGD |
PMID:34293021 |
RGD:155260332 |
NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
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G |
Hspa1b |
heat shock protein family A (Hsp70) member 1B |
severity |
ISO |
DNA:polymorphism: :1538G>A (human) |
RGD |
PMID:19731315 |
RGD:8662463 |
NCBI chr20:3,859,756...3,863,800
Ensembl chr20:3,856,006...3,873,240 Ensembl chr20:3,856,006...3,873,240
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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 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
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G |
Il15 |
interleukin 15 |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:dermis, endothelial cell |
RGD |
PMID:17014667 |
RGD:2313575 |
NCBI chr19:42,536,160...42,611,349
Ensembl chr19:25,640,251...25,706,820
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G |
Itgam |
integrin subunit alpha M |
|
ISO |
protein:increased expression:pes (human) |
RGD |
PMID:37087778 |
RGD:329853756 |
NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:182,659,000...182,709,503
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G |
Mbl2 |
mannose binding lectin 2 |
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ISO |
protein:increased expression:serum: |
RGD |
PMID:19997692 |
RGD:8694068 |
NCBI chr 1:237,429,873...237,465,567
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G |
Mir17 |
microRNA 17 |
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ISO |
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RGD |
PMID:36333728 |
RGD:329349308 |
NCBI chr15:98,587,848...98,587,931
Ensembl chr15:92,180,629...92,180,712
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G |
Mir210 |
microRNA 210 |
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ISO |
miRNA:increased expression:blood serum, foot (human) |
RGD |
PMID:34293021 |
RGD:155260332 |
NCBI chr 1:205,755,923...205,756,032
Ensembl chr 1:196,326,337...196,326,454
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G |
Mmp9 |
matrix metallopeptidase 9 |
severity |
ISO |
|
RGD |
PMID:22688339 |
RGD:8547813 |
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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G |
Notch1 |
notch receptor 1 |
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ISO |
protein:increased expression:skin, epidermis: |
RGD |
PMID:30886104 |
RGD:155646129 |
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531
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G |
Plat |
plasminogen activator, tissue type |
|
ISO |
|
RGD |
PMID:17275886 |
RGD:2311669 |
NCBI chr16:75,943,061...76,022,037
Ensembl chr16:69,240,585...69,268,223
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G |
Ptx3 |
pentraxin 3 |
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ISO |
protein:decreased expression:plasma (human) |
RGD |
PMID:30767386 |
RGD:38501100 |
NCBI chr 2:152,797,563...152,803,372
Ensembl chr 2:150,487,513...150,493,323
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G |
Tlr4 |
toll-like receptor 4 |
susceptibility |
ISO |
DNA:SNPs,haplotype: :rs4986790,rs4986791,rs10759931,rs1927911(human); |
RGD |
PMID:23936790 |
RGD:7777174 |
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
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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 chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
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G |
Ace2 |
angiotensin converting enzyme 2 |
treatment |
ISO |
associated with Diabetes Mellitus, Experimental human gene in a mouse model CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:31380462 PMID:21792177 PMID:31380462 |
RGD:8548900, RGD:40818278 |
NCBI chr X:33,925,458...33,972,851
Ensembl chr X:30,293,589...30,340,977
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G |
Acp1 |
acid phosphatase 1 |
|
ISO |
associated with Diabetes Mellitus, Insulin-Dependent |
RGD |
PMID:12495297 |
RGD:2313184 |
NCBI chr 6:53,233,937...53,249,576
Ensembl chr 6:47,506,380...47,522,021
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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 chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
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G |
Adm |
adrenomedullin |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma |
RGD |
PMID:19216096 |
RGD:2313312 |
NCBI chr 1:174,164,178...174,182,372
Ensembl chr 1:164,745,466...164,747,654
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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 chr16:71,544,603...71,547,410
Ensembl chr16:64,841,788...64,844,552
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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 More...
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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 chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078
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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 RGD |
PMID:15387897 PMID:10862638 PMID:21792177 |
RGD:8548872, RGD:8548900 |
NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
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G |
Agtr1a |
angiotensin II receptor, type 1a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16601577 |
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NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,174,429...34,226,946
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G |
Akr1b1 |
aldo-keto reductase family 1 member B1 |
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 4:63,899,222...63,913,315
Ensembl chr 4:62,932,031...62,946,157
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G |
Akt1 |
AKT serine/threonine kinase 1 |
|
IEP |
mRNA, protein:increased expression:retina |
RGD |
PMID:31759996 |
RGD:41410819 |
NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921
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|
G |
Ang |
angiogenin |
|
ISO |
associated with Diabetes Mellitus, Type 2;protein:decreased tyrosine phosphorylation:vitreous humor |
RGD |
PMID:18978347 |
RGD:2307061 |
NCBI chr15:26,786,233...26,796,883
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|
G |
Angpt1 |
angiopoietin 1 |
|
ISO |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:12000720 |
RGD:2313818 |
NCBI chr 7:75,415,959...75,668,696
Ensembl chr 7:73,531,486...73,784,067
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G |
Angpt2 |
angiopoietin 2 |
|
IEP IDA |
protein:increased expression:retina (rat) |
RGD |
PMID:16520919 PMID:16520919 |
RGD:2314216, RGD:2314216 |
NCBI chr16:77,790,760...77,841,241
Ensembl chr16:71,088,364...71,138,804
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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 chr10:86,773,018...86,780,961
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|
G |
Apoa4 |
apolipoprotein A4 |
|
ISO |
protein:increased expression:vitreous humor (human) |
RGD |
PMID:19081814 |
RGD:5685692 |
NCBI chr 8:55,435,779...55,438,160
Ensembl chr 8:46,539,082...46,541,469
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G |
Apob |
apolipoprotein B |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent |
RGD |
PMID:19448981 |
RGD:2313976 |
NCBI chr 6:36,563,704...36,603,300
Ensembl chr 6:30,844,368...30,892,497
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G |
Apoc3 |
apolipoprotein C3 |
severity |
ISO |
protein:increased expression:serum |
RGD |
PMID:15642486 |
RGD:2306768 |
NCBI chr 8:55,428,172...55,430,352
Ensembl chr 8:46,531,478...46,533,583
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|
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 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
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G |
Apoh |
apolipoprotein H |
|
ISO |
protein:increased expression:vitreous humor |
RGD |
PMID:18695102 |
RGD:2313982 |
NCBI chr10:93,841,992...93,855,897
Ensembl chr10:93,310,977...93,356,329
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G |
Aqp4 |
aquaporin 4 |
|
IMP |
|
RGD |
PMID:22449442 |
RGD:8695996 |
NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,507,903...6,524,856
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G |
Atg7 |
autophagy related 7 |
|
IEP ISO |
associated with type 2 diabetes mellitus; protein:decreased, altered expression:retina associated with type 1 diabetes mellitus;protein:decreased, altered expression:retina |
RGD |
PMID:32272782 PMID:32272782 |
RGD:407571700, RGD:407571700 |
NCBI chr 4:149,390,000...149,597,534
Ensembl chr 4:147,718,752...147,925,593
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|
G |
Bdkrb1 |
bradykinin receptor B1 |
treatment |
IEP |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:18311190 |
RGD:2313334 |
NCBI chr 6:130,275,631...130,284,968
Ensembl chr 6:124,510,870...124,513,747
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G |
Bdnf |
brain-derived neurotrophic factor |
|
IEP |
associated with Diabetes Mellitus, Experimental;protein:decreased expression:retina: |
RGD |
PMID:15331553 |
RGD:8655657 |
NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615
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G |
Becn1 |
beclin 1 |
|
IEP ISO |
associated with type 2 diabetes mellitus; protein:decreased, altered expression:retina associated with type 1 diabetes mellitus;protein:decreased, altered expression:retina |
RGD |
PMID:32272782 PMID:32272782 |
RGD:407571700, RGD:407571700 |
NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742
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|
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 RGD |
PMID:20654064 PMID:19187597 PMID:19013511 |
RGD:2311444, RGD:2311448 |
NCBI chr16:52,395,539...52,413,794
Ensembl chr16:45,662,910...45,684,648
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G |
Casp9 |
caspase 9 |
|
ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased activation:retina |
RGD |
PMID:18369072 |
RGD:2311244 |
Ensembl chr 5:154,109,046...154,126,626
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|
G |
Cat |
catalase |
|
IEP |
protein:decreased expression:retina |
RGD |
PMID:21314438 |
RGD:5130875 |
NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478
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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 chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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|
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 chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377
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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 1:22,621,498...22,624,614
Ensembl chr 1:20,802,199...20,805,734
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G |
Ccr5 |
C-C motif chemokine receptor 5 |
|
ISO |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:22677420 |
RGD:8551828 |
NCBI chr 8:132,629,097...132,660,980
Ensembl chr 8:123,752,325...123,759,260
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G |
Cd34 |
CD34 molecule |
|
IEP |
mRNA, protein:increased expression:retina |
RGD |
PMID:31759996 |
RGD:41410819 |
NCBI chr13:109,008,786...109,029,317
Ensembl chr13:106,480,043...106,499,832
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G |
Cd59b |
CD59b molecule |
|
IEP |
protein:decreased expression:retina |
RGD |
PMID:12453906 |
RGD:1600487 |
NCBI chr 3:110,914,008...110,932,489
Ensembl chr 3:90,459,162...90,478,847
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|
G |
Cdkal1 |
CDK5 regulatory subunit associated protein 1-like 1 |
disease_progression |
ISO |
DNA:SNP:intron: (rs7756992) (human) |
RGD |
PMID:28821857 |
RGD:401850599 |
NCBI chr17:34,927,221...35,479,827
Ensembl chr17:34,718,687...35,407,524
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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 chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505
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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 chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838
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|
G |
Cldn1 |
claudin 1 |
treatment |
IEP |
|
RGD |
PMID:25685822 |
RGD:11341734 |
NCBI chr11:87,926,376...87,941,533
Ensembl chr11:74,421,569...74,436,724
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|
G |
Clu |
clusterin |
treatment |
ISO |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:19875648 |
RGD:9068395 |
NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315
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|
G |
Crp |
C-reactive protein |
|
ISO |
protein:increased expression:serum: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20012460 PMID:20012460 |
RGD:8547537 |
NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178
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|
G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
|
ISO |
|
RGD |
PMID:17194635 |
RGD:2311361 |
NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,704,758...15,706,975
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|
G |
Cxcl12 |
C-X-C motif chemokine ligand 12 |
severity |
ISO |
protein:increased expression:vitreous humor |
RGD |
PMID:15630447 |
RGD:2306559 |
NCBI chr 4:152,060,781...152,073,628
Ensembl chr 4:150,388,325...150,401,168
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|
G |
Cyba |
cytochrome b-245 alpha chain |
|
IEP |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:19685553 |
RGD:2317854 |
NCBI chr19:67,396,143...67,404,214
Ensembl chr19:50,487,597...50,495,721
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|
G |
Dll4 |
delta like canonical Notch ligand 4 |
severity |
ISO |
mRNA,protein:increased expression:retina: |
RGD |
PMID:30787185 PMID:34362349 |
RGD:155663348, RGD:155663356 |
NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:106,316,986...106,326,931
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|
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 chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885
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|
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 chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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G |
Eln |
elastin |
|
ISO |
|
RGD |
PMID:11707314 |
RGD:9585734 |
NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928
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|
G |
Eng |
endoglin |
|
ISO |
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma,vitreous body |
RGD |
PMID:16202216 |
RGD:1580961 |
NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230
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|
G |
Ep300 |
E1A binding protein p300 |
|
IMP |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:21885871 |
RGD:7349382 |
NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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|
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 chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946
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|
G |
F13a1 |
coagulation factor XIII A1 chain |
|
ISO |
protein:increased expression:optic choroid vascular plexus: |
RGD |
PMID:11375345 |
RGD:8693344 |
NCBI chr17:28,021,197...28,197,960
Ensembl chr17:27,815,702...27,992,700
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|
G |
F3 |
coagulation factor III, tissue factor |
|
ISO |
protein:increased expression:aqueous humor,serum |
RGD |
PMID:12417540 |
RGD:2313865 |
NCBI chr 2:212,511,675...212,523,375
Ensembl chr 2:209,826,959...209,838,668
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|
G |
F7 |
coagulation factor VII |
|
ISO |
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) |
RGD |
PMID:10837382 |
RGD:2312398 |
NCBI chr16:83,191,896...83,202,775
Ensembl chr16:76,489,717...76,500,610
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|
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 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221
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|
G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
treatment |
ISO IEP |
|
RGD |
PMID:17143550 PMID:18174522 |
RGD:2313721, RGD:10402119 |
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
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|
G |
Fuca1 |
alpha-L-fucosidase 1 |
|
IEP |
associated with Diabetes Mellitus, Experimental;protein:increased activity:retina |
RGD |
PMID:10353622 |
RGD:2315932 |
NCBI chr 5:153,436,262...153,453,512
Ensembl chr 5:148,152,700...148,169,972
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|
G |
Gad2 |
glutamate decarboxylase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21412422 |
|
NCBI chr17:89,671,718...89,734,246
Ensembl chr17:84,763,628...84,826,155
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|
G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
|
IEP |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:18852331 |
RGD:2315975 |
NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:157,962,343...157,966,235
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|
G |
Gc |
GC, vitamin D binding protein |
|
ISO |
protein:increased expression:vitreous body |
RGD |
PMID:16080911 |
RGD:2315548 |
NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,632,135...18,667,567
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|
G |
Ggt1 |
gamma-glutamyltransferase 1 |
|
ISO |
associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum |
RGD |
PMID:11311965 |
RGD:2315614 |
NCBI chr20:13,074,141...13,103,551
Ensembl chr20:13,074,700...13,108,442
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G |
Gh1 |
growth hormone 1 |
|
ISO |
|
RGD |
PMID:3183302 |
RGD:2315688 |
NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,228,103...91,230,078
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|
G |
Glo1 |
glyoxalase 1 |
no_association |
ISO |
DNA:SNP:promoter:-7C>T (human) |
RGD |
PMID:21738003 PMID:21738003 |
RGD:7242569, RGD:7242569 |
NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649
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|
G |
Glul |
glutamate-ammonia ligase |
treatment |
IEP |
associated with Experimental Diabetes Mellitus |
RGD |
PMID:34133251 |
RGD:401794594 |
NCBI chr13:68,519,500...68,585,554
Ensembl chr13:66,025,630...66,035,108
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|
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 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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|
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 chr20:12,856,068...12,873,020
Ensembl chr20:12,856,669...12,873,585
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|
G |
Hes1 |
hes family bHLH transcription factor 1 |
|
ISO |
mRNA:increased expression:retina: |
RGD |
PMID:30787185 |
RGD:155663348 |
NCBI chr11:84,210,632...84,213,045
Ensembl chr11:70,705,764...70,708,192
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|
G |
Hey2 |
hes-related family bHLH transcription factor with YRPW motif 2 |
|
ISO |
mRNA:increased expression:retina: |
RGD |
PMID:30787185 |
RGD:155663348 |
NCBI chr 1:28,641,100...28,651,187
Ensembl chr 1:26,822,131...26,832,218
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|
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 chr17:41,841,302...41,849,359
Ensembl chr17:41,413,451...41,421,502
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|
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 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409
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|
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 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
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|
G |
Hras |
HRas proto-oncogene, GTPase |
|
IDA |
|
RGD |
PMID:14988264 |
RGD:1358731 |
NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615
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|
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 RGD |
PMID:10485912 PMID:18834676 PMID:25066112 PMID:18942221 |
RGD:2313472, RGD:11354984, RGD:2313471 |
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
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|
G |
Igf1 |
insulin-like growth factor 1 |
susceptibility |
ISO |
protein:decreased expression:serum |
RGD |
PMID:16873705 PMID:17194636 |
RGD:1598424, RGD:2313764 |
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
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|
G |
Igf1r |
insulin-like growth factor 1 receptor |
disease_progression |
IEP |
mRNA:increased expression:retina: |
RGD |
PMID:12781065 |
RGD:10046008 |
NCBI chr 1:130,959,787...131,248,664
Ensembl chr 1:121,550,743...121,831,777
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|
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 chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
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|
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 8:59,802,072...59,829,275
Ensembl chr 8:50,906,960...50,932,887
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|
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 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822
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|
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 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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|
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 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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|
G |
Ins2 |
insulin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:30463601 PMID:22046295 |
RGD:6902909 |
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
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|
G |
Insr |
insulin receptor |
|
ISS |
|
MouseDO |
|
|
NCBI chr12:5,991,135...6,129,275
Ensembl chr12:1,197,100...1,330,883
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|
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 2:48,253,412...48,354,509
Ensembl chr 2:46,523,948...46,621,481
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|
G |
Itga4 |
integrin subunit alpha 4 |
treatment |
IMP |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:19553613 |
RGD:9698417 |
NCBI chr 3:84,569,487...84,646,276
Ensembl chr 3:64,163,085...64,233,715
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G |
Itgam |
integrin subunit alpha M |
|
IEP |
mRNA, protein:increased expression:retina (rat) |
RGD |
PMID:33614447 |
RGD:329901937 |
NCBI chr 1:192,089,496...192,139,947
Ensembl chr 1:182,659,000...182,709,503
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G |
Itgb3 |
integrin subunit beta 3 |
|
ISO |
protein:increased expression:optic choroid vascular plexus: |
RGD |
PMID:11375345 |
RGD:8693344 |
NCBI chr10:90,009,927...90,067,787
Ensembl chr10:89,509,989...89,564,679
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|
G |
Jag1 |
jagged canonical Notch ligand 1 |
|
ISO |
mRNA,protein:increased expression:retina: |
RGD |
PMID:30787185 |
RGD:155663348 |
NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209
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|
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 chr13:87,334,510...87,367,747
Ensembl chr13:84,802,009...84,835,461
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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 5:154,066,436...154,121,913
Ensembl chr 5:148,782,976...148,838,319
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|
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 8:28,044,555...28,054,042
Ensembl chr 8:19,768,375...19,777,862
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|
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 chr20:3,622,291...3,625,852
Ensembl chr20:3,618,853...3,620,859
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G |
Mesp1 |
mesoderm posterior bHLH transcription factor 1 |
|
ISO |
associated with type 2 diabetes mellitus;DNA:increased expression:plasma (human) |
RGD |
PMID:33221518 |
RGD:242905212 |
NCBI chr 1:143,147,671...143,149,189
Ensembl chr 1:133,738,357...133,739,875
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G |
Mfn2 |
mitofusin 2 |
|
IEP |
associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression:retina (rat) |
RGD |
PMID:28487236 |
RGD:12910715 |
NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342
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|
G |
Mir126b |
microRNA 126b |
ameliorates |
IEP IDA |
RNA:decreased expression:serum,retina |
RGD |
PMID:33416109 PMID:33416109 |
RGD:401850543, RGD:401850543 |
NCBI chr 3:9,415,087...9,415,159
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|
G |
Mir17 |
microRNA 17 |
treatment |
ISO |
|
RGD |
PMID:33333415 |
RGD:329349303 |
NCBI chr15:98,587,848...98,587,931
Ensembl chr15:92,180,629...92,180,712
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|
G |
Mir21 |
microRNA 21 |
|
IEP |
RNA:increased expression:retina |
RGD |
PMID:31759996 |
RGD:41410819 |
NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348
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|
G |
Mir320a |
microRNA 320a |
|
ISO |
miRNA:decreased expression:blood plasma (human) |
RGD |
PMID:32178730 |
RGD:155882566 |
NCBI chr15:51,926,088...51,926,169
Ensembl chr15:45,516,392...45,516,473
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|
G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:12714657 PMID:18552985 |
RGD:1582582, RGD:8547849 |
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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|
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 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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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 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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|
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 5:114,877,112...114,981,463
Ensembl chr 5:109,776,286...109,819,967
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
|
IDA |
associated with Diabetes Mellitus, Experimental;protein:decreased activity:retina |
RGD |
PMID:23633659 |
RGD:10412733 |
NCBI chr 3:81,001,529...81,031,165
Ensembl chr 3:60,594,242...60,621,737
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|
G |
Ngf |
nerve growth factor |
|
ISO IMP |
protein:increased expression:serum associated with Experimental Diabetes Mellitus |
RGD |
PMID:18282491 PMID:24030532 |
RGD:7242804, RGD:405100241 |
NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452
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G |
Nos1 |
nitric oxide synthase 1 |
|
IEP |
mRNA, protein:decreased expression:retina |
RGD |
PMID:17545029 |
RGD:1642141 |
NCBI chr12:44,276,011...44,456,371
Ensembl chr12:38,626,714...38,710,945
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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 More...
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RGD:7421531, RGD:7777103, RGD:7777101, RGD:7775042, RGD:7771606, RGD:7771569, RGD:7771568, RGD:7771565, RGD:7421533, RGD:7421532 |
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166
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G |
Notch1 |
notch receptor 1 |
treatment |
ISO |
|
RGD |
PMID:30787185 |
RGD:155663348 |
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531
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G |
Nppa |
natriuretic peptide A |
|
ISO |
protein:increased expression:vitreous humor |
RGD |
PMID:15273657 |
RGD:2313589 |
NCBI chr 5:163,712,184...163,713,493
Ensembl chr 5:158,429,042...158,430,351
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|
G |
Npr3 |
natriuretic peptide receptor 3 |
|
IEP |
mRNA:decreased expression:retina (rat) |
RGD |
PMID:15789000 |
RGD:1580773 |
NCBI chr 2:60,865,483...60,933,432
Ensembl chr 2:60,870,594...60,932,955
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|
G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
|
IEP |
associated with Experimental Diabetes Mellitus;protein:altered expression:retina |
RGD |
PMID:37904673 |
RGD:408364965 |
NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375
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|
G |
Nrp1 |
neuropilin 1 |
treatment |
ISO |
|
RGD |
PMID:26554379 |
RGD:401901170 |
NCBI chr19:73,256,557...73,411,705
Ensembl chr19:56,359,455...56,513,633
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|
G |
Nutf2 |
nuclear transport factor 2 |
treatment |
ISO IDA |
mRNA:decreased expression:peripheral blood: |
RGD |
PMID:19404486 PMID:19404486 |
RGD:9831377, RGD:9831377 |
NCBI chr19:50,662,168...50,683,457
Ensembl chr19:33,752,291...33,773,591
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|
G |
Ocln |
occludin |
treatment |
IEP |
|
RGD |
PMID:25685822 |
RGD:11341734 |
NCBI chr 2:33,391,303...33,442,207
Ensembl chr 2:31,657,220...31,764,150
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G |
Pf4 |
platelet factor 4 |
|
IEP |
protein:increased expression:retina |
RGD |
PMID:23352833 |
RGD:329901846 |
NCBI chr14:17,582,477...17,583,392
Ensembl chr14:17,298,308...17,299,365
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G |
Pgf |
placental growth factor |
|
IEP |
associated with Diabetes Mellitus, Type 2 |
RGD |
PMID:21408222 |
RGD:6483775 |
NCBI chr 6:110,547,165...110,557,747
Ensembl chr 6:104,816,104...104,826,685
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|
G |
Pik3cg |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma |
|
IEP |
mRNA, protein:increased expression:retina |
RGD |
PMID:31759996 |
RGD:41410819 |
NCBI chr 6:54,494,247...54,529,563
Ensembl chr 6:48,766,864...48,802,043
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|
G |
Plk4 |
polo-like kinase 4 |
treatment |
IEP |
|
RGD |
PMID:33416109 |
RGD:401850543 |
NCBI chr 2:123,802,527...123,820,942
Ensembl chr 2:123,802,512...123,820,942
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|
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 RGD |
PMID:9661650 PMID:20012460 PMID:16949520 PMID:24100645 PMID:15270786 PMID:20012460 More...
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RGD:2313272, RGD:8547572, RGD:8547548, RGD:8547537 |
NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360
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|
G |
Pparg |
peroxisome proliferator-activated receptor gamma |
|
ISO |
Retinal Leukostasis;associated with Diabetes Mellitus, Experimental |
RGD |
PMID:17003451 |
RGD:8552824 |
NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468
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|
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 chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656
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|
G |
Pten |
phosphatase and tensin homolog |
|
IEP |
mRNA, protein:decreased expression:retina |
RGD |
PMID:31759996 |
RGD:41410819 |
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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|
G |
Rbp4 |
retinol binding protein 4 |
severity |
ISO |
protein:increased expression:blood plasma (human) |
RGD |
PMID:30135138 |
RGD:329849110 |
NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399
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G |
Retn |
resistin |
|
ISO |
associated with Diabetes Mellitus, Type 2 |
RGD |
PMID:17303077 |
RGD:7207162 |
NCBI chr12:6,508,653...6,511,115
Ensembl chr12:1,710,881...1,712,620
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G |
Robo1 |
roundabout guidance receptor 1 |
|
IEP |
mRNA,protein:increased expression:retina |
RGD |
PMID:28973045 |
RGD:243048421 |
NCBI chr11:24,067,869...25,108,694
Ensembl chr11:10,580,908...11,620,203
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|
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 chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597
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|
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 |
NCBI chr20:3,314,491...3,322,815
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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 chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258
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|
G |
Serpina4 |
serpin family A member 4 |
|
ISO |
protein:decreased expression:vitreous fluid (human) |
RGD |
PMID:8950506 |
RGD:1580289 |
NCBI chr 6:122,999,970...123,009,083
Ensembl chr 6:122,999,900...123,009,082
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|
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 chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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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 More...
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RGD:2312346, RGD:1580135, RGD:2312344, RGD:2312348, RGD:2312341, RGD:2312337 |
NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646
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|
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 1:181,238,458...181,271,931
Ensembl chr 1:181,238,468...181,274,781
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G |
Sirt1 |
sirtuin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24894401 |
|
NCBI chr20:25,305,953...25,328,000
Ensembl chr20:25,306,917...25,329,260
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|
G |
Slit2 |
slit guidance ligand 2 |
|
IEP |
mRNA,protein:increased expression:retina |
RGD |
PMID:28973045 |
RGD:243048421 |
NCBI chr14:66,829,661...67,168,517
Ensembl chr14:62,617,067...62,955,948
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|
G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
human gene in a mouse model CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:19074809 PMID:19074809 |
RGD:8655572 |
NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249
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|
G |
Sod3 |
superoxide dismutase 3 |
|
ISO |
|
RGD |
PMID:12663605 |
RGD:1581298 |
NCBI chr14:62,822,865...62,828,602
Ensembl chr14:58,609,958...58,615,990
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|
G |
Stra6 |
signaling receptor and transporter of retinol STRA6 |
treatment |
ISO |
associated with type 2 diabetes mellitus |
RGD |
PMID:30096827 |
RGD:155631301 |
NCBI chr 8:67,444,757...67,464,719
Ensembl chr 8:58,549,736...58,568,860
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|
G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Diabetic retinopathy |
ClinVar |
PMID:9536098 PMID:15731757 PMID:16799921 PMID:17576681 PMID:21270064 PMID:24033266 PMID:25741868 PMID:25944730 PMID:28162229 PMID:28492532 PMID:28679693 PMID:29510914 PMID:30222965 PMID:32528524 PMID:34572573 More...
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|
NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:115,794,537...115,883,228
|
|
G |
Thbs1 |
thrombospondin 1 |
|
IEP ISO |
associated with Diabetes Mellitus, Experimental CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17117553 PMID:17117553 |
RGD:2317943 |
NCBI chr 3:125,510,250...125,525,402
Ensembl chr 3:105,056,292...105,071,440
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|
G |
Timm44 |
translocase of inner mitochondrial membrane 44 |
|
IEP |
associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina |
RGD |
PMID:22003103 |
RGD:13463597 |
NCBI chr12:7,410,424...7,428,179
Ensembl chr12:2,612,581...2,629,351
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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 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
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|
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 chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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G |
Uts2 |
urotensin 2 |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma |
RGD |
PMID:18338983 |
RGD:2306795 |
NCBI chr 5:166,725,471...166,739,063
Ensembl chr 5:161,450,846...161,456,237
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor, serum |
RGD |
PMID:19237221 |
RGD:2312762 |
NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958
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G |
Vdr |
vitamin D receptor |
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ISO |
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RGD |
PMID:15899948 |
RGD:1580363 |
NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
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G |
Vegfa |
vascular endothelial growth factor A |
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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 RGD |
PMID:11978667 PMID:15788408 PMID:20577866 PMID:17513698 PMID:31759996 PMID:9852717 PMID:16636650 More...
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RGD:2301992, RGD:41410819, RGD:8547996, RGD:1580565 |
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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G |
Vps26a |
VPS26 retromer complex component A |
susceptibility |
ISO |
DNA:SNP:: (rs1802295) (Human) |
RGD |
PMID:28821857 |
RGD:401850599 |
NCBI chr20:30,404,320...30,434,266
Ensembl chr20:30,404,325...30,434,131
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G |
Vtn |
vitronectin |
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ISO IEP |
associated with Diabetes Mellitus, Experimental |
RGD |
PMID:7536680 PMID:8804356 |
RGD:1580818, RGD:10040982 |
NCBI chr10:63,892,782...63,895,862
Ensembl chr10:63,394,719...63,397,810
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G |
Vwf |
von Willebrand factor |
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ISO |
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RGD |
PMID:10077454 |
RGD:1580648 |
NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:158,360,152...158,491,539
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G |
Wfs1 |
wolframin ER transmembrane glycoprotein |
susceptibility |
ISO |
DNA:SNP:: (rs10010131) (Human) |
RGD |
PMID:28821857 |
RGD:401850599 |
NCBI chr14:78,035,205...78,059,718
Ensembl chr14:73,810,404...73,835,602
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G |
Xrcc1 |
X-ray repair cross complementing 1 |
susceptibility |
ISO |
DNA:SNP:cd: p.R399Q G>A (rs25487) (human) |
RGD |
PMID:30472145 |
RGD:401827275 |
NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Erythermalgia, primary | ClinVar Annotator: match by term: Inherited Erythromelalgia | ClinVar Annotator: match by term: Primary erythromelalgia CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:1536168 PMID:10514109 PMID:10852559 PMID:10852560 PMID:14985375 PMID:15302875 PMID:15385606 PMID:15955112 PMID:15958509 PMID:16216943 PMID:16392115 PMID:16702558 PMID:16988069 PMID:17101882 PMID:17135418 PMID:17145499 PMID:17294067 PMID:17985268 PMID:18171466 PMID:18347287 PMID:18414213 PMID:18518989 PMID:19369487 PMID:19549232 PMID:19557861 PMID:19763161 PMID:20301342 PMID:20385509 PMID:20478850 PMID:20635406 PMID:21094958 PMID:21115638 PMID:21698661 PMID:21939494 PMID:22035805 PMID:22136189 PMID:22539570 PMID:22604722 PMID:22826602 PMID:22995991 PMID:23129781 PMID:23149731 PMID:23232607 PMID:23280954 PMID:23292638 PMID:23450472 PMID:23874707 PMID:23893323 PMID:23895530 PMID:24033266 PMID:24088041 PMID:24776970 PMID:24817410 PMID:24820863 PMID:24848745 PMID:25250524 PMID:25316021 PMID:25333069 PMID:25741868 PMID:25852444 PMID:25993546 PMID:25995458 PMID:26220970 PMID:26264438 PMID:26284228 PMID:26392352 PMID:26467025 PMID:26633545 PMID:26675522 PMID:26920677 PMID:27301361 PMID:27504264 PMID:27525141 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:29396561 PMID:29500686 PMID:29653220 PMID:29911575 PMID:29961513 PMID:29978519 PMID:30002500 PMID:30316835 PMID:30392441 PMID:30416015 PMID:30478917 PMID:30554136 PMID:30569495 PMID:30642272 PMID:30672368 PMID:30702961 PMID:30795902 PMID:30834459 PMID:31193310 PMID:31372899 PMID:31394368 PMID:31780880 PMID:31847883 PMID:32581362 PMID:33216760 PMID:33487118 PMID:33688580 PMID:33884296 PMID:34749381 PMID:37003485 PMID:37079850 PMID:38134749 PMID:16216943 PMID:14985375 More...
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RGD:1599517, RGD:1599515 |
NCBI chr 3:71,553,185...71,701,377
Ensembl chr 3:51,145,146...51,293,516
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G |
Pole |
DNA polymerase epsilon, catalytic subunit |
susceptibility |
ISO |
ClinVar Annotator: match by term: Facial dysmorphism, immunodeficiency, livedo, and short stature |
ClinVar OMIM |
PMID:9536098 PMID:16699561 PMID:17576681 PMID:20091185 PMID:21129811 PMID:21157497 PMID:23230001 PMID:23263490 PMID:23636398 PMID:24033266 PMID:24501277 PMID:25079317 PMID:25370038 PMID:25529843 PMID:25559809 PMID:25642631 PMID:25741868 PMID:25860647 PMID:25948378 PMID:26302956 PMID:26467025 PMID:26822575 PMID:27153395 PMID:27379089 PMID:27683556 PMID:28050010 PMID:28492532 PMID:29120461 PMID:29212164 PMID:29641532 PMID:29755653 PMID:29758562 PMID:29987844 PMID:30049826 PMID:30194485 PMID:30362666 PMID:30503519 PMID:30827058 PMID:32424176 PMID:32546565 PMID:32792570 PMID:34326862 PMID:35264596 More...
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NCBI chr12:52,005,155...52,053,761
Ensembl chr12:46,345,420...46,393,939
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G |
Acta2 |
actin alpha 2, smooth muscle |
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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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:646322 PMID:9536098 PMID:10532176 PMID:13129918 PMID:14730227 PMID:15138499 PMID:15472996 PMID:16199547 PMID:17576681 PMID:17994018 PMID:19409525 PMID:19639654 PMID:20734336 PMID:20970362 PMID:21212136 PMID:21248741 PMID:21288906 PMID:21733706 PMID:21937134 PMID:22001912 PMID:22302747 PMID:22543189 PMID:22752479 PMID:22753406 PMID:22790431 PMID:22831780 PMID:22946110 PMID:23041370 PMID:23099432 PMID:23142374 PMID:23253043 PMID:23613326 PMID:24020716 PMID:24033266 PMID:24243736 PMID:24293535 PMID:24621862 PMID:24793577 PMID:24998021 PMID:25326635 PMID:25504618 PMID:25644172 PMID:25741868 PMID:25759435 PMID:25944730 PMID:26034244 PMID:26153420 PMID:26188975 PMID:26637293 PMID:27146836 PMID:27176728 PMID:27481187 PMID:27549731 PMID:27551047 PMID:27567161 PMID:27611364 PMID:28074886 PMID:28492532 PMID:28652363 PMID:28659821 PMID:28848449 PMID:28855619 PMID:29202781 PMID:29300374 PMID:29543232 PMID:29687370 PMID:29867215 PMID:29907982 PMID:30056620 PMID:30341550 PMID:30739908 PMID:30975232 PMID:31731876 PMID:31911919 PMID:32093627 PMID:32464348 PMID:32544455 PMID:33513575 PMID:33824467 PMID:34422331 PMID:35567597 PMID:35754816 PMID:36053285 PMID:36440024 PMID:37042257 More...
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NCBI chr 1:241,159,723...241,172,503
Ensembl chr 1:231,746,548...231,759,554
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Ch25h |
cholesterol 25-hydroxylase |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:241,428,048...241,429,366
Ensembl chr 1:232,014,880...232,016,195
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G |
Fas |
Fas cell surface death receptor |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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G |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI |
ClinVar |
PMID:25741868 PMID:36946977 |
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NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889
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G |
Lipa |
lipase A, lysosomal acid type |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:241,437,524...241,470,936
Ensembl chr 1:232,024,356...232,057,633
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G |
Myh11 |
myosin heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI |
ClinVar |
PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532 |
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NCBI chr10:1,250,554...1,345,681
Ensembl chr10:743,685...838,459
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G |
Mylk |
myosin light chain kinase |
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ISO |
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI |
ClinVar |
PMID:24033266 PMID:25637381 PMID:25741868 PMID:28492532 |
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NCBI chr11:79,288,243...79,535,450
Ensembl chr11:65,783,008...66,030,261
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G |
Nde1 |
nudE neurodevelopment protein 1 |
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ISO |
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI |
ClinVar |
PMID:25500235 PMID:25637381 PMID:25741868 PMID:28492532 |
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NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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G |
Slc2a10 |
solute carrier family 2 member 10 |
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ISO |
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:174,659,683...174,671,978
Ensembl chr 3:154,240,391...154,252,690
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G |
Smad3 |
SMAD family member 3 |
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ISO |
ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:64,110,039...64,236,960
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G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
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ISO |
ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI |
ClinVar |
PMID:25741868 PMID:27879313 PMID:28492532 |
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NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777
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G |
Col4a1 |
collagen type IV alpha 1 chain |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | ClinVar Annotator: match by term: HANAC-like syndrome |
CTD OMIM ClinVar |
PMID:1867713 PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:9724608 PMID:16159887 PMID:16199547 PMID:17030722 PMID:17078022 PMID:17576681 PMID:18077766 PMID:18160688 PMID:19344236 PMID:19477666 PMID:20301768 PMID:20385946 PMID:20733150 PMID:20818663 PMID:21527998 PMID:21625620 PMID:22522439 PMID:22574627 PMID:22914737 PMID:23065703 PMID:23225343 PMID:24374867 PMID:24628545 PMID:25228067 PMID:25457163 PMID:25741868 PMID:26310487 PMID:26467025 PMID:27794444 PMID:28492532 PMID:28750028 PMID:29137252 PMID:29602769 PMID:29770612 PMID:30087447 PMID:30413629 PMID:30653986 PMID:31051113 PMID:31069529 PMID:31230195 PMID:31719132 PMID:31922066 PMID:32732225 PMID:33353976 PMID:33527515 PMID:33532864 PMID:34114234 PMID:35711275 PMID:36035189 PMID:37644014 PMID:37830085 More...
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NCBI chr16:84,885,597...84,996,482
Ensembl chr16:78,183,533...78,294,412
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G |
Col4a2 |
collagen type IV alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr16:84,749,672...84,885,520
Ensembl chr16:78,047,602...78,183,839
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G |
Kat6b |
lysine acetyltransferase 6B |
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ISO |
ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps |
ClinVar |
PMID:25741868 |
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NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,639,200...2,812,316
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G |
Acvrl1 |
activin A receptor like type 1 |
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ISO ISS |
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome OMIM:187300 | OMIM:600376 | OMIM:601101 | OMIM:615506 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:9245985 PMID:9536098 PMID:10767348 PMID:10946360 PMID:12114496 PMID:12700602 PMID:12843319 PMID:15024723 PMID:15065824 PMID:15266205 PMID:15517393 PMID:15521985 PMID:15712270 PMID:15712271 PMID:16051269 PMID:16282348 PMID:16429404 PMID:16470787 PMID:16525724 PMID:16540754 PMID:16705692 PMID:16861286 PMID:17095602 PMID:17384219 PMID:17576681 PMID:17786384 PMID:18498373 PMID:18673552 PMID:19115559 PMID:19357124 PMID:19508727 PMID:19767588 PMID:20135064 PMID:20501893 PMID:20609011 PMID:21158752 PMID:22991266 PMID:23535011 PMID:23722869 PMID:23805858 PMID:23919827 PMID:24001356 PMID:24196379 PMID:24603890 PMID:25637381 PMID:25741868 PMID:26176610 PMID:26387786 PMID:28166811 PMID:28492532 PMID:29398197 PMID:30578397 PMID:31400083 PMID:32300199 PMID:32503579 PMID:32573726 PMID:15024723 More...
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RGD:1300352 |
NCBI chr 7:134,117,917...134,135,306
Ensembl chr 7:132,239,729...132,256,591
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G |
Ak1 |
adenylate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia |
ClinVar |
PMID:15879500 PMID:20414677 PMID:28492532 |
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NCBI chr 3:36,310,113...36,320,760
Ensembl chr 3:15,912,485...15,923,041
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G |
Ccnh |
cyclin H |
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ISO |
ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome |
ClinVar |
PMID:18446851 PMID:24038909 PMID:25741868 PMID:28295764 PMID:28492532 PMID:29891884 More...
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NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819
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G |
Ciao3 |
cytosolic iron-sulfur assembly component 3 |
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ISO |
ClinVar Annotator: match by term: Pulmonary arteriovenous malformation |
ClinVar |
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NCBI chr10:14,795,888...14,804,953
Ensembl chr10:14,795,961...14,804,950
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G |
Dpm2 |
dolichyl-phosphate mannosyltransferase subunit 2, regulatory |
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ISO |
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia |
ClinVar |
PMID:15879500 PMID:20414677 PMID:28492532 |
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NCBI chr 3:15,855,952...15,858,867
Ensembl chr 3:15,856,182...15,869,165 Ensembl chr 3:15,856,182...15,869,165
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G |
Eng |
endoglin |
no_association |
ISO ISS |
HHT1, OMIM:187300;DNA:point mutation:Y277X, DNA:deletion:exon ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler-Rendu-Weber disease ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: Osler-Rendu-Weber disease OMIM:187300 | OMIM:600376 | OMIM:601101 | OMIM:615506 DNA:mutations: CTD Direct Evidence: marker/mechanism DNA:mutations:multiple: |
ClinVar MouseDO CTD RGD |
PMID:7894484 PMID:8162075 PMID:8595426 PMID:9157574 PMID:9245986 PMID:9366572 PMID:9536098 PMID:9554745 PMID:10545596 PMID:10625079 PMID:10702408 PMID:10749981 PMID:10751092 PMID:10982033 PMID:11343967 PMID:11440987 PMID:11793473 PMID:12667943 PMID:12673790 PMID:12786761 PMID:12920067 PMID:13043988 PMID:14526373 PMID:14972453 PMID:15024723 PMID:15115879 PMID:15266205 PMID:15375013 PMID:15517393 PMID:15520401 PMID:15521985 PMID:15712270 PMID:15712271 PMID:15849752 PMID:15879500 PMID:15880681 PMID:15907823 PMID:15993872 PMID:16199547 PMID:16287957 PMID:16429404 PMID:16470589 PMID:16470787 PMID:16525724 PMID:16542389 PMID:16611099 PMID:16690726 PMID:16705692 PMID:16706966 PMID:16752392 PMID:16754821 PMID:17384219 PMID:17525106 PMID:17576210 PMID:17576681 PMID:17719943 PMID:17786384 PMID:18495117 PMID:18498373 PMID:18673552 PMID:19270816 PMID:19299629 PMID:19508727 PMID:19767588 PMID:20067780 PMID:20135064 PMID:20301525 PMID:20412114 PMID:20414677 PMID:20656886 PMID:20719417 PMID:20813596 PMID:20824275 PMID:21158752 PMID:21402931 PMID:21415079 PMID:21967607 PMID:21987708 PMID:22022569 PMID:22192717 PMID:22347366 PMID:22385575 PMID:22656258 PMID:22722545 PMID:22991266 PMID:23046070 PMID:23298310 PMID:23300529 PMID:23399955 PMID:23535011 PMID:23710379 PMID:23722869 PMID:23801935 PMID:23805858 PMID:23919827 PMID:24001356 PMID:24033266 PMID:24055113 PMID:24196379 PMID:24267784 PMID:24336440 PMID:24603890 PMID:24921008 PMID:25080347 PMID:25312062 PMID:25326635 PMID:25326637 PMID:25637381 PMID:25640679 PMID:25674101 PMID:25741868 PMID:25760803 PMID:25868896 PMID:25970827 PMID:26167679 PMID:26387786 PMID:26395556 PMID:26811476 PMID:26820968 PMID:27146957 PMID:27260700 PMID:27884767 PMID:28231770 PMID:28492532 PMID:28564608 PMID:28655553 PMID:28989145 PMID:29146883 PMID:29171923 PMID:29339534 PMID:29398197 PMID:29483005 PMID:29631995 PMID:29650961 PMID:29743074 PMID:30029678 PMID:30073140 PMID:30120215 PMID:30251589 PMID:30578383 PMID:30578397 PMID:30665703 PMID:30701124 PMID:30763665 PMID:30946035 PMID:31019283 PMID:31400083 PMID:31455059 PMID:31630786 PMID:31727138 PMID:32165824 PMID:32190976 PMID:32300199 PMID:32303606 PMID:32503579 PMID:32514857 PMID:32573726 PMID:32581362 PMID:32847536 PMID:32933640 PMID:33282178 PMID:33919892 PMID:34377910 PMID:34501220 PMID:34530633 PMID:34872578 PMID:34880085 PMID:34900561 PMID:35346192 PMID:36651276 PMID:37848456 PMID:7894484 PMID:16752392 PMID:10899246 PMID:10562296 PMID:9245986 PMID:15375013 PMID:15024723 More...
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RGD:1601038, RGD:11035216, RGD:11041566, RGD:11041563, RGD:11041183, RGD:11041169, RGD:1300352 |
NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230
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G |
Gdf2 |
growth differentiation factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26801773 |
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NCBI chr16:9,261,679...9,267,678
Ensembl chr16:9,255,430...9,261,429
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G |
Pip5kl1 |
phosphatidylinositol-4-phosphate 5-kinase-like 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia |
ClinVar |
PMID:15879500 PMID:20414677 PMID:28492532 |
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NCBI chr 3:15,860,493...15,869,264
Ensembl chr 3:15,855,946...15,869,165
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G |
Rasa1 |
RAS p21 protein activator 1 |
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ISO |
ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome |
ClinVar |
PMID:18446851 PMID:24038909 PMID:25741868 PMID:28295764 PMID:28492532 PMID:29891884 More...
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NCBI chr 2:17,593,136...17,676,707
Ensembl chr 2:15,857,980...15,940,854
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G |
Smad4 |
SMAD family member 4 |
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ISO |
DNA:missense,frameshift, nonsense mutations:exons: ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:16613914 |
RGD:11035218 |
NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438
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G |
St6galnac4 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 |
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ISO |
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia |
ClinVar |
PMID:15879500 PMID:20414677 PMID:28492532 |
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NCBI chr 3:15,872,230...15,885,250
Ensembl chr 3:15,872,532...15,885,243
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G |
St6galnac6 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 |
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ISO |
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia |
ClinVar |
PMID:15879500 PMID:20414677 PMID:28492532 |
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NCBI chr 3:15,894,275...15,907,502
Ensembl chr 3:15,885,968...15,907,496
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G |
Tnf |
tumor necrosis factor |
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ISO |
protein:decreased expression:blood, lymphocyte |
RGD |
PMID:16611101 |
RGD:10450733 |
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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G |
Acvrl1 |
activin A receptor like type 1 |
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ISO |
ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 |
ClinVar |
PMID:9536098 PMID:15024723 PMID:15065824 PMID:15517393 PMID:15712271 PMID:16282348 PMID:16429404 PMID:16470787 PMID:16540754 PMID:16705692 PMID:16861286 PMID:17219009 PMID:17384219 PMID:17576681 PMID:17786384 PMID:18673552 PMID:19767588 PMID:20414677 PMID:20501893 PMID:21158752 PMID:23722869 PMID:23919827 PMID:24196379 PMID:25741868 PMID:26176610 PMID:28492532 PMID:31220907 PMID:32300199 PMID:32503579 PMID:32573726 More...
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NCBI chr 7:134,117,917...134,135,306
Ensembl chr 7:132,239,729...132,256,591
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G |
Eng |
endoglin |
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ISO |
ClinVar Annotator: match by term: ENG-related condition | ClinVar Annotator: match by term: Haemorrhagic telangiectasia 1 | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 |
ClinVar OMIM RGD |
PMID:2601709 PMID:7894484 PMID:8162075 PMID:8595426 PMID:9245986 PMID:9366572 PMID:9536098 PMID:9554745 PMID:10545596 PMID:10625079 PMID:10702408 PMID:10749981 PMID:10982033 PMID:11343967 PMID:11440987 PMID:11793473 PMID:12667943 PMID:12673790 PMID:12786761 PMID:12920067 PMID:13043988 PMID:14526373 PMID:14684682 PMID:14972453 PMID:15024723 PMID:15266205 PMID:15375013 PMID:15517393 PMID:15521985 PMID:15712270 PMID:15712271 PMID:15849752 PMID:15879500 PMID:15880681 PMID:15907823 PMID:15993872 PMID:16164574 PMID:16199547 PMID:16287957 PMID:16429404 PMID:16470589 PMID:16470787 PMID:16525724 PMID:16542389 PMID:16611099 PMID:16690726 PMID:16705692 PMID:16752392 PMID:16754821 PMID:17384219 PMID:17525106 PMID:17576210 PMID:17576681 PMID:17719943 PMID:17786384 PMID:18495117 PMID:18498373 PMID:18607909 PMID:18673552 PMID:19270816 PMID:19299629 PMID:19508727 PMID:19767588 PMID:20067780 PMID:20301525 PMID:20412114 PMID:20414677 PMID:20656886 PMID:20719417 PMID:20813596 PMID:20824275 PMID:21158752 PMID:21415079 PMID:21967607 PMID:22022569 PMID:22192717 PMID:22347366 PMID:22385575 PMID:22656258 PMID:22991266 PMID:23298310 PMID:23300529 PMID:23399955 PMID:23535011 PMID:23710379 PMID:23722869 PMID:23801935 PMID:23805858 PMID:23919827 PMID:24001356 PMID:24033266 PMID:24055113 PMID:24196379 PMID:24267784 PMID:24336440 PMID:24603890 PMID:24921008 PMID:25080347 PMID:25312062 PMID:25326635 PMID:25637381 PMID:25674101 PMID:25741868 PMID:25970827 PMID:26167679 PMID:26811476 PMID:27146957 PMID:27884767 PMID:28231770 PMID:28492532 PMID:28564608 PMID:28655553 PMID:28989145 PMID:29171923 PMID:29398197 PMID:29483005 PMID:29650961 PMID:29743074 PMID:30029678 PMID:30073140 PMID:30251589 PMID:30374176 PMID:30665703 PMID:30701124 PMID:30728427 PMID:31019283 PMID:31400083 PMID:31455059 PMID:31630786 PMID:31727138 PMID:32165824 PMID:32300199 PMID:32303606 PMID:32503579 PMID:32514857 PMID:32573726 PMID:32581362 PMID:32907962 PMID:32933640 PMID:33919892 PMID:34008892 PMID:34377910 PMID:34501220 PMID:34530633 PMID:34872578 PMID:34880085 PMID:34900561 PMID:35346192 PMID:35628811 PMID:36651276 PMID:37848456 PMID:15907823 More...
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RGD:11041166 |
NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230
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G |
Psen1 |
presenilin 1 |
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ISO |
ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 |
ClinVar |
PMID:25741868 PMID:29142009 PMID:30822634 PMID:32235595 |
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NCBI chr 6:109,054,160...109,106,191
Ensembl chr 6:103,323,120...103,371,650
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G |
Smad4 |
SMAD family member 4 |
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ISO |
ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438
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G |
Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
protein:decreased expression:plasma: |
RGD |
PMID:15907823 |
RGD:11041166 |
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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G |
Acvrl1 |
activin A receptor like type 1 |
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ISO |
DNA:nonsense mutation:cds:145del(human) DNA:deletion, insertion and missense mutations:exons: DNA:mutations: CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lip telangiectasia | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2 |
OMIM CTD ClinVar RGD |
PMID:6470589 PMID:8640225 PMID:8782041 PMID:9245985 PMID:9536098 PMID:10187774 PMID:10694922 PMID:10767348 PMID:10946360 PMID:11170071 PMID:11484689 PMID:11865300 PMID:12079393 PMID:12114496 PMID:12700602 PMID:12843319 PMID:14684682 PMID:15024723 PMID:15065824 PMID:15266205 PMID:15375013 PMID:15517393 PMID:15521985 PMID:15687131 PMID:15712270 PMID:15712271 PMID:15879500 PMID:15880681 PMID:15993872 PMID:16123970 PMID:16199547 PMID:16282348 PMID:16429404 PMID:16470589 PMID:16470787 PMID:16525724 PMID:16540754 PMID:16542389 PMID:16611099 PMID:16690726 PMID:16705692 PMID:16706966 PMID:16752392 PMID:16829353 PMID:16861286 PMID:17219009 PMID:17384219 PMID:17425869 PMID:17576681 PMID:17786384 PMID:18159113 PMID:18285823 PMID:18312453 PMID:18495117 PMID:18498373 PMID:18673552 PMID:19115559 PMID:19357124 PMID:19508727 PMID:19555857 PMID:19763152 PMID:19767588 PMID:20056902 PMID:20307669 PMID:20414677 PMID:20501893 PMID:20609011 PMID:21132305 PMID:21158752 PMID:21378382 PMID:21398687 PMID:21488239 PMID:21536610 PMID:21546842 PMID:22028876 PMID:22377182 PMID:22406018 PMID:22553411 PMID:22632830 PMID:22718755 PMID:22781769 PMID:22799562 PMID:22977237 PMID:22991266 PMID:23124896 PMID:23298310 PMID:23535011 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:25312062 PMID:25318803 PMID:25326635 PMID:25557927 PMID:25637381 PMID:25741868 PMID:25778885 PMID:25970827 PMID:26176610 PMID:26245826 PMID:26387786 PMID:26401274 PMID:26986070 PMID:27077548 PMID:27081284 PMID:27291782 PMID:27316748 PMID:27587546 PMID:27613157 PMID:27630060 PMID:27869117 PMID:28166811 PMID:28492532 PMID:28655553 PMID:28918311 PMID:29171923 PMID:29398197 PMID:29449337 PMID:29515340 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29923633 PMID:30120215 PMID:30244195 PMID:30251589 PMID:30260738 PMID:30303062 PMID:30578383 PMID:30578397 PMID:31019026 PMID:31220907 PMID:31327192 PMID:31400083 PMID:31450639 PMID:31455059 PMID:31511490 PMID:31594285 PMID:31618753 PMID:31630786 PMID:31727138 PMID:31875044 PMID:32300199 PMID:32341592 PMID:32503579 PMID:32573726 PMID:32581362 PMID:32899377 PMID:33201366 PMID:33754658 PMID:33919892 PMID:34008892 PMID:34501220 PMID:34872578 PMID:34966542 PMID:35620871 PMID:35628811 PMID:35997807 PMID:36993588 PMID:37568404 PMID:37776659 PMID:18543223 PMID:17219009 PMID:12588795 PMID:16752392 More...
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RGD:10769364, RGD:11035213, RGD:11035214, RGD:11035216 |
NCBI chr 7:134,117,917...134,135,306
Ensembl chr 7:132,239,729...132,256,591
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G |
Eng |
endoglin |
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ISO |
ClinVar Annotator: match by term: Oral cavity telangiectasia |
ClinVar |
PMID:25741868 |
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NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230
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G |
Gdf2 |
growth differentiation factor 2 |
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ISO |
ClinVar Annotator: match by term: GDF2-related condition | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 5 |
OMIM ClinVar |
PMID:23972370 PMID:25741868 PMID:26801773 PMID:27081547 PMID:28492532 PMID:29650961 PMID:30476936 PMID:30578383 PMID:30578397 PMID:31661308 PMID:31727138 PMID:32573726 PMID:32618121 PMID:32992168 PMID:33066286 PMID:34199176 PMID:34611981 PMID:34904380 PMID:35346192 More...
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NCBI chr16:9,261,679...9,267,678
Ensembl chr16:9,255,430...9,261,429
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G |
Sox18 |
SRY-box transcription factor 18 |
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ISO |
DNA:missense mutations, nonsense mutation: 455G>C (p.A104P), 428T>A (p.W95R), 865C>A (p.C240X) (human) ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia syndrome | ClinVar Annotator: match by term: SOX18-related condition CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:11701398 PMID:12740761 PMID:24697860 PMID:25741868 PMID:26148450 PMID:28492532 PMID:31358114 PMID:12740761 More...
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RGD:1599075 |
NCBI chr 3:189,163,000...189,164,802
Ensembl chr 3:168,785,490...168,787,290
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G |
Sox18 |
SRY-box transcription factor 18 |
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ISO |
ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome |
OMIM ClinVar |
PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:28492532 PMID:29307792 More...
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NCBI chr 3:189,163,000...189,164,802
Ensembl chr 3:168,785,490...168,787,290
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G |
Crb1 |
crumbs cell polarity complex component 1 |
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IAGP |
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RGD |
PMID:25878282 |
RGD:13451131 |
NCBI chr13:53,352,932...53,540,019
Ensembl chr13:50,800,959...50,989,261
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G |
Crb1m1 |
crumbs 1, cell polarity complex component, mutant 1 |
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IAGP |
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RGD |
PMID:25878282 |
RGD:13451131 |
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G |
Smad4 |
SMAD family member 4 |
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ISO |
ClinVar Annotator: match by term: JP/HHT SYNDROME | ClinVar Annotator: match by term: JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA | ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI CTD Direct Evidence: marker/mechanism DNA:mutations:exon:multiple DNA:frameshift mutations, missense mutations, nonsense mutation: :multiple |
OMIM ClinVar CTD RGD |
PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 PMID:9582123 PMID:9811934 PMID:10398437 PMID:10441006 PMID:10764709 PMID:10790223 PMID:10797267 PMID:11274206 PMID:11583957 PMID:11782434 PMID:11920286 PMID:11977156 PMID:12116240 PMID:12417513 PMID:14647410 PMID:15014009 PMID:15031030 PMID:15235019 PMID:15288293 PMID:15754356 PMID:15799969 PMID:16152648 PMID:16199547 PMID:16436638 PMID:16613914 PMID:17132729 PMID:17362581 PMID:17576681 PMID:17873119 PMID:18178612 PMID:18355998 PMID:18823382 PMID:20101697 PMID:20301642 PMID:21153778 PMID:21465659 PMID:21515830 PMID:21835029 PMID:21898662 PMID:22158539 PMID:22243968 PMID:22316667 PMID:22331366 PMID:22585601 PMID:22683461 PMID:22703879 PMID:22748914 PMID:22810475 PMID:22843233 PMID:22875147 PMID:23239472 PMID:23399955 PMID:23559152 PMID:24033266 PMID:24398790 PMID:24424121 PMID:24465802 PMID:24465805 PMID:24715504 PMID:24728327 PMID:24763289 PMID:24841914 PMID:24983367 PMID:25148578 PMID:25186627 PMID:25318351 PMID:25502805 PMID:25559809 PMID:25589618 PMID:25637381 PMID:25695693 PMID:25741868 PMID:25742471 PMID:25931195 PMID:25980754 PMID:26253951 PMID:26467025 PMID:26572829 PMID:26580448 PMID:26614708 PMID:26633542 PMID:26636501 PMID:26681312 PMID:26900293 PMID:26956206 PMID:27023170 PMID:27079212 PMID:27146957 PMID:27153395 PMID:27302097 PMID:27375208 PMID:27443514 PMID:27595937 PMID:27613157 PMID:27978560 PMID:28002797 PMID:28135145 PMID:28196074 PMID:28199989 PMID:28283864 PMID:28406602 PMID:28481359 PMID:28492532 PMID:28528518 PMID:28628100 PMID:28655553 PMID:28693246 PMID:28716708 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29069792 PMID:29212164 PMID:29684080 PMID:29743074 PMID:29891884 PMID:30267214 PMID:30426508 PMID:30719162 PMID:30809044 PMID:30842500 PMID:30968316 PMID:31068090 PMID:31159747 PMID:31474762 PMID:31515488 PMID:31595668 PMID:31654632 PMID:31684910 PMID:31758407 PMID:31837202 PMID:32066632 PMID:32068069 PMID:32300199 PMID:32459922 PMID:32573726 PMID:32719554 PMID:32944796 PMID:32973888 PMID:33097490 PMID:33326750 PMID:33428109 PMID:33745841 PMID:33824467 PMID:34130653 PMID:34326862 PMID:35907855 PMID:35943490 PMID:36158166 PMID:36194927 PMID:36243179 PMID:37377590 PMID:20101697 PMID:15031030 More...
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RGD:11062720, RGD:11070199 |
NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438
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G |
Akt3 |
AKT serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome |
ClinVar |
PMID:22729224 PMID:23745724 PMID:25416470 PMID:25523067 PMID:28086757 |
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NCBI chr13:91,475,839...91,758,060
Ensembl chr13:88,946,091...89,225,708
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION | ClinVar Annotator: match by term: Macrocephaly cutis marmorata telangiectatica congenita | ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome | ClinVar Annotator: match by term: PIK3CA related overgrowth spectrum |
OMIM ClinVar |
PMID:15016963 PMID:15520168 PMID:15608678 PMID:15930273 PMID:16353168 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18371219 PMID:18829572 PMID:19671852 PMID:20177704 PMID:20593314 PMID:21078999 PMID:21266528 PMID:22120714 PMID:22228622 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23754335 PMID:23946963 PMID:24033266 PMID:24459181 PMID:24497998 PMID:24782230 PMID:25326635 PMID:25326637 PMID:25599672 PMID:25681199 PMID:25741868 PMID:25880439 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26351730 PMID:26627007 PMID:26637981 PMID:26749308 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27191687 PMID:27283355 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28191889 PMID:28425981 PMID:28492532 PMID:28502725 PMID:28566443 PMID:28941273 PMID:29296277 PMID:29446767 PMID:29549527 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30231930 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31568861 PMID:31775759 PMID:32595695 PMID:32733937 PMID:32778138 PMID:33077954 PMID:34008892 PMID:34170046 PMID:34402524 PMID:34496175 PMID:34568242 PMID:34606700 PMID:34733958 PMID:34854542 PMID:36474027 PMID:37667289 PMID:37712948 More...
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NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
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G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Vascular Malformations and Overgrowth |
ClinVar |
PMID:25741868 PMID:34040190 |
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NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631
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G |
Pik3r2 |
phosphoinositide-3-kinase regulatory subunit 2 |
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ISO |
ClinVar Annotator: match by term: Macrocephaly cutis marmorata telangiectatica congenita |
ClinVar |
PMID:16357568 PMID:21984976 PMID:22729224 PMID:24497998 PMID:25741868 PMID:26520804 PMID:26860062 PMID:27854409 PMID:28086757 PMID:28492532 PMID:28502725 PMID:33818783 More...
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NCBI chr16:18,699,389...18,708,045
Ensembl chr16:18,665,457...18,674,065
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G |
Rit1 |
Ras-like without CAAX 1 |
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ISO |
ClinVar Annotator: match by term: MACROCEPHALY-CAPILLARY MALFORMATION |
ClinVar |
PMID:24469055 PMID:25741868 PMID:28492532 |
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NCBI chr 2:176,478,616...176,493,269
Ensembl chr 2:174,180,848...174,195,455
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G |
Icam1 |
intercellular adhesion molecule 1 |
treatment |
IMP |
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RGD |
PMID:7858885 |
RGD:11522711 |
NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438
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G |
Jak2 |
Janus kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20434300 |
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NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189
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G |
Serpind1 |
serpin family D member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1831893 |
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NCBI chr11:97,168,753...97,179,830
Ensembl chr11:83,664,518...83,675,519
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G |
Trem1 |
triggering receptor expressed on myeloid cells 1 |
ameliorates |
IDA |
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RGD |
PMID:18091551 |
RGD:127284848 |
NCBI chr 9:20,259,227...20,276,879
Ensembl chr 9:12,763,819...12,779,203
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G |
Serpina3n |
serpin family A member 3N |
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ISO |
ClinVar Annotator: match by term: Peripheral arterial occlusive disease 1 |
ClinVar |
PMID:1618300 PMID:9040504 PMID:11289720 PMID:25741868 |
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NCBI chr 6:129,088,392...129,095,950
Ensembl chr 6:123,323,629...123,332,433
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G |
Adipoq |
adiponectin, C1Q and collagen domain containing |
|
ISO |
protein:decreased expression:plasma |
RGD |
PMID:16321391 |
RGD:5686716 |
NCBI chr11:91,226,524...91,240,244
Ensembl chr11:77,721,912...77,735,564
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G |
B2m |
beta-2 microglobulin |
severity |
ISO |
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RGD |
PMID:21314441 |
RGD:6482704 |
NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766
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G |
Bmp2 |
bone morphogenetic protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27082954 |
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NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:120,812,882...120,821,397
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G |
Bmp8a |
bone morphogenetic protein 8a |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27082954 |
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NCBI chr 5:135,589,839...135,617,785
Ensembl chr 5:135,591,716...135,617,785
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G |
Ccn1 |
cellular communication network factor 1 |
severity |
ISO |
associated with type 2 diabetes mellitus; protein:increased expression:blood serum (human) |
RGD |
PMID:33222686 |
RGD:329845552 |
NCBI chr 2:237,222,730...237,225,689
Ensembl chr 2:234,562,408...234,565,484
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G |
Dab2ip |
DAB2 interacting protein |
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ISO |
DNA:SNP:CDS:intron 1 (rs7025486) (human) |
RGD |
PMID:20622881 |
RGD:401901599 |
NCBI chr 3:39,312,745...39,483,730
Ensembl chr 3:18,915,290...19,086,280
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G |
Gch1 |
GTP cyclohydrolase 1 |
treatment |
ISO |
associated with Experimental Diabetes Mellitus |
RGD |
PMID:31623833 |
RGD:329961326 |
NCBI chr15:22,884,006...22,917,412
Ensembl chr15:20,402,527...20,437,698
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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 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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G |
Npy |
neuropeptide Y |
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ISO |
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RGD |
PMID:21468772 |
RGD:10448273 |
NCBI chr 4:80,212,111...80,219,310
Ensembl chr 4:78,881,264...78,888,495
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G |
Npy1r |
neuropeptide Y receptor Y1 |
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ISO |
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RGD |
PMID:21468772 |
RGD:10448273 |
NCBI chr16:23,037,788...23,047,330
Ensembl chr16:23,037,789...23,046,759
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G |
Npy2r |
neuropeptide Y receptor Y2 |
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ISO |
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RGD |
PMID:21468772 |
RGD:10448273 |
NCBI chr 2:167,901,999...167,912,165
Ensembl chr 2:167,903,879...167,905,024
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G |
Npy5r |
neuropeptide Y receptor Y5 |
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ISO |
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RGD |
PMID:21468772 |
RGD:10448273 |
NCBI chr16:23,055,427...23,063,384
Ensembl chr16:23,055,427...23,063,382
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G |
P2ry12 |
purinergic receptor P2Y12 |
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ISO |
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RGD |
PMID:14662702 |
RGD:1580188 |
NCBI chr 2:145,631,487...145,673,194
Ensembl chr 2:143,481,430...143,523,361
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G |
Serpine1 |
serpin family E member 1 |
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ISO |
associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) |
RGD |
PMID:9201602 |
RGD:8547710 |
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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G |
Adm2 |
adrenomedullin 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:34434487 |
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NCBI chr 7:120,393,179...120,394,965
Ensembl chr 7:120,393,179...120,396,331
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