EDS Genes From Sterling Hill

9
EDS ADAMTS2 Rs1054480 Risk Allele A Variant A/G http://ghr.nlm.nih.gov/gene/ADAMTS2 COL3A1 Rs3106796 Risk allele G variant A/G http://www.ncbi.nlm.nih.gov/pubmed/19000145?dopt=Abstract COL3A1 Rs1800255 Risk Allele A variant A/G http://www.ncbi.nlm.nih.gov/pubmed/21219851?dopt=Abstract COL11A2 Rs2076311 Risk Allele A variant A/C http://www.ncbi.nlm.nih.gov/pubmed/19180518?dopt=Abstract http://www.snpedia.com/index.php/Rs2076311 COL1A1 Rs1107946 Risk Allele A variant A/C http://ghr.nlm.nih.gov/gene/COL1A1 http://www.snpedia.com/index.php/Rs1107946 COL1A1 Rs1800012 Risk Allele A variant A/C http://www.ncbi.nlm.nih.gov/pubmed/19193663?dopt=Abstract http://www.snpedia.com/index.php/Rs1800012 COL1A1 Rs1800215 Risk Allele T Very Rare variant C/T http://www.ncbi.nlm.nih.gov/pubmed/19152976?dopt=Abstract http://www.snpedia.com/index.php/Rs1800215 COL1A1 Rs2075554 Risk Allele T variant C/T http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL1A1 http://www.snpedia.com/index.php/Rs2075554 COL1A1 Rs2075555 Risk Allele T variant G/T http://www.snpedia.com/index.php/Rs2075555 COL1A1 Rs2141279 Risk Allele T variant C/T http://www.pathology.washington.edu/clinical/collagen/index.php/disorders/ehlers-danlos/ COL1A1 Rs2586494 Risk Allele A variant A/C http://www.phosphosite.org/proteinAction.do?id=7514&showAllSites=true COL1A1 Rs72645357 Risk Allele T Extremely Rare variant C/T http://www.snpedia.com/index.php/Rs72645357 COL1A1 Rs72648320 Risk Allele T Extremely Rare variant C/T http://www.snpedia.com/index.php/Rs72648320 COL1A1 Rs72653173 Risk Allele A Extremely Rare variant A/G http://books.google.com/books?id=AtYnYjBKuEwC&pg=PA196&lpg=PA196&dq=COL1A1+ EDS&source=bl&ots=D-

description

EDS Genes From Sterling Hill

Transcript of EDS Genes From Sterling Hill

Page 1: EDS Genes From Sterling Hill

EDS

ADAMTS2 Rs1054480 Risk Allele A Variant A/G http://ghr.nlm.nih.gov/gene/ADAMTS2 COL3A1 Rs3106796 Risk allele G variant A/G http://www.ncbi.nlm.nih.gov/pubmed/19000145?dopt=Abstract

COL3A1 Rs1800255 Risk Allele A variant A/G http://www.ncbi.nlm.nih.gov/pubmed/21219851?dopt=Abstract

COL11A2 Rs2076311 Risk Allele A variant A/C http://www.ncbi.nlm.nih.gov/pubmed/19180518?dopt=Abstract http://www.snpedia.com/index.php/Rs2076311

COL1A1 Rs1107946 Risk Allele A variant A/C http://ghr.nlm.nih.gov/gene/COL1A1 http://www.snpedia.com/index.php/Rs1107946

COL1A1 Rs1800012 Risk Allele A variant A/C http://www.ncbi.nlm.nih.gov/pubmed/19193663?dopt=Abstract http://www.snpedia.com/index.php/Rs1800012

COL1A1 Rs1800215 Risk Allele T Very Rare variant C/T http://www.ncbi.nlm.nih.gov/pubmed/19152976?dopt=Abstract http://www.snpedia.com/index.php/Rs1800215

COL1A1 Rs2075554 Risk Allele T variant C/T http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL1A1 http://www.snpedia.com/index.php/Rs2075554

COL1A1 Rs2075555 Risk Allele T variant G/T http://www.snpedia.com/index.php/Rs2075555

COL1A1 Rs2141279 Risk Allele T variant C/T http://www.pathology.washington.edu/clinical/collagen/index.php/disorders/ehlers-danlos/

COL1A1 Rs2586494 Risk Allele A variant A/C http://www.phosphosite.org/proteinAction.do?id=7514&showAllSites=true

COL1A1 Rs72645357 Risk Allele T Extremely Rare variant C/T http://www.snpedia.com/index.php/Rs72645357

COL1A1 Rs72648320 Risk Allele T Extremely Rare variant C/T http://www.snpedia.com/index.php/Rs72648320 COL1A1 Rs72653173 Risk Allele A Extremely Rare variant A/G http://books.google.com/books?id=AtYnYjBKuEwC&pg=PA196&lpg=PA196&dq=COL1A1+EDS&source=bl&ots=D-

Page 2: EDS Genes From Sterling Hill

Ed2LC5jU&sig=3Yl4rylP6kDfhf6waU5PCm9sGKE&hl=en&sa=X&ei=MDmkUemrG4rLyQHItIHQCw&ved=0CDsQ6AEwADgK#v=onepage&q=COL1A1%20EDS&f=false

COL1A2 Rs1801182 Risk Allele C variant C/T http://ghr.nlm.nih.gov/gene/COL1A2

COL1A2 Rs2621215 Risk Allele G variant G/T http://www.snpedia.com/index.php/Rs2621215

COL1A2 Rs441051 Risk Allele T variant C/T http://www.ncbi.nlm.nih.gov/pubmed/10982177

COL1A2 Rs72656387 Risk Allele A Extremely Rare variant A/G http://www.snpedia.com/index.php/Rs72656387

COL1A2 Rs72658154 Risk Allele A Extremely Rare variant A/G http://www.snpedia.com/index.php/Rs72658154

COL27A1 Rs1249744 Risk Allele G variant A/G http://www.snpedia.com/index.php/Rs1249744

COL27A1 Rs4143245 Risk Allele C variant C/T http://www.snpedia.com/index.php/Rs4143245

COL27A1 Rs946053 Risk Allele T variant G/T http://www.snpedia.com/index.php/Rs946053 COL2A1 Rs1034762 Risk Allele A variant A/C http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL2A1

COL2A1 Rs1635529 Risk Allele T variant G/T http://www.snpedia.com/index.php/Rs1635529

COL2A1 Rs1793933 Risk Allele G variant G/T http://www.snpedia.com/index.php/Rs1793933

COL2A1 Rs2070739 Risk Allele T variant C/T http://www.snpedia.com/index.php/Rs2070739

COL2A1 Rs2276455 Risk Allele A variant A/G http://www.snpedia.com/index.php/Rs2276455

COL2A1 Rs3803183 Risk Allele T variant A/T http://www.snpedia.com/index.php/Rs3803183

COL5A1 Rs12722 Risk Allele T variant C/T

Page 3: EDS Genes From Sterling Hill

http://www.snpedia.com/index.php/Rs12722

COL5A1 Rs7044529 Risk Allele T variant C/T http://www.snpedia.com/index.php/Rs7044529

COL6A3 Rs1131296 Risk Allele A variant A/G http://www.jbc.org/content/early/2013/04/05/jbc.M112.433078.full.pdf

COL6A3 Rs2270669 Risk Allele C variant C/G http://www.snpedia.com/index.php/Rs2270669

BMP1 (SFTPC) Rs4715 Risk Allele A variant A/C http://www.rndsystems.com/resources/images/26752.pdf

CRTAP Rs72659357 Risk Allele A variant A/G http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2673455/

CRTAP Rs72659361 Risk Allele T variant C/T http://www.snpedia.com/index.php/Rs72659361

CHST14 Rs582736 Risk Allele A variant A/G http://skeletome.metadata.net/skeletome/node/1635

CHST14 Rs2242080 Risk Allele A variant A/G http://www.ncbi.nlm.nih.gov/pubmed/20533528

FBN1 Rs4775765 Risk Allele C variant C/T http://www.ncbi.nlm.nih.gov/pubmed/9649943

IFITM5 Rs2293744 Risk Allele T variant C/T http://www.pathology.washington.edu/clinical/collagen/index.php/disorders/osteogenesis-imper/ IFITM5 Rs2293745 Risk Allele A variant A/G http://www.biomedsearch.com/nih/Phenotypic-variability-osteogenesis-imperfecta-type/23408678.html

LEPRE1 Rs6882 Risk Allele C variant C/T http://www.malacards.org/card/lepre1_related_osteogenesis_imperfecta

LEPRE1 Rs4660662 Risk Allele A variant A/G http://www.oif.org/site/DocServer/A_Chapter_on_Osteogenesis_Imperfecta_by_Roy_Morello_and_.pdf

LEPRE1 Rs72659356 Risk Allele A variant A/G http://books.google.com/books?id=nfWNYFdOsCsC&pg=PA505&lpg=PA505&dq=lepre1+ehlers+danlos&source=bl&ots=Xc0IUyrVRP&sig=wkSF8yoQYzBDlqW_PhQDE0MJPwk&hl=

Page 4: EDS Genes From Sterling Hill

en&sa=X&ei=e7WkUba2LtH7yAGS_4HwBQ&ved=0CGMQ6AEwBTgK#v=onepage&q=lepre1%20ehlers%20danlos&f=false

LEPRE1 Rs3738497 Risk Allele T variant G/T http://books.google.com/books?id=nfWNYFdOsCsC&pg=PA505&lpg=PA505&dq=lepre1+ehlers+danlos&source=bl&ots=Xc0IUysPPO&sig=PPjf_52dJ-Wxkr78keOqq-HwizA&hl=en&sa=X&ei=9rakUb6lG6XCyAGmqIHQCw&ved=0CGMQ6AEwBTgK#v=onepage&q=lepre1%20ehlers%20danlos&f=false

LEPRE1 Rs7552138 Risk Allele T variant C/T http://malacards.weizmann.ac.il/dev/card/lepre1_related_osteogenesis_imperfecta

LEPRE1 Rs3738500 Risk Allele G variant A/G http://www.bcm.edu/geneticlabs/?pmid=15857

LEPRE1 Rs16829937 Risk Allele C variant C/T http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0010560

LEPRE1 Rs1018572 Risk Allele A variant A/G http://en.wikipedia.org/wiki/Osteogenesis_imperfecta

LEPRE1 Rs11581921 Risk Allele T variant C/T http://hmg.oxfordjournals.org/content/20/8/1595.full.pdf

LEPRE1 i5006384 Risk Allele T variant G/T http://books.google.com/books?id=yz0VLW3Ci5EC&pg=PA271&lpg=PA271&dq=lepre1+ehlers+danlos&source=bl&ots=gVXQXsbFCU&sig=3tu_wBtWE-VAiHeGljPrLXuF2Yc&hl=en&sa=X&ei=C7ikUdi6DOazyQGf1YGgDw&ved=0CGQQ6AEwBTgU#v=onepage&q=lepre1%20ehlers%20danlos&f=false

LEPRE1 i5006383 Risk Allele A variant A/G http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1000750

LEPRE1 Rs6700677 Risk Allele T variant C/T http://www.endotext.org/parathyroid/parathyroid17/

LEPRE1 Rs2816603 Risk Allele A variant A/G http://academic.reed.edu/art/faculty/ondrizek/installations/medical_genetics/index.html

LEPRE1 Rs72659350 Risk Allele C variant C/G http://books.google.com/books?id=rQZiAQ0NhAkC&pg=PA101&lpg=PA101&dq=lepre1+ehlers+danlos&source=bl&ots=TJZ8pK4wzQ&sig=XYKvLEBC-Upqt1Pc6lIfZs-V5Pg&hl=en&sa=X&ei=mrmkUaT3EY2tygGo8oGoCw&ved=0CEIQ6AEwAzge#v=onepage&q=lepre1%20ehlers%20danlos&f=false

Page 5: EDS Genes From Sterling Hill

LEPRE1 Rs72659349 Risk Allele T variant G/T http://scienceindex.com/stories/1698237/The_identification_of_novel_mutations_in_COL1A1_COL1A2_and_LEPRE1_genes_in_Chinese_patients_with_osteogenesis_imperfecta.html

LEPRE1 Rs2816594 Risk Allele T variant C/T http://moodle.spartanmed.org/pluginfile.php?file=%2F312%2Fmod_resource%2Fcontent%2F1%2F8.1h.2013Spring%20MolGene%20Posttranslation%20modification.pdf

LEPRE1 Rs72659347 Risk Allele Tvariant G/T http://medgen.ugent.be/CMGG/thesissen/Thesis%20Sofie%20Symoens.pdf

PLOD1 Rs1208984 Risk Allele G variant A/G http://ghr.nlm.nih.gov/gene/PLOD1

PLOD1 Rs11802668 Risk Allele C variant C/T http://www.aruplab.com/guides/ug/tests/2005559.jsp

PLOD1 Rs6674770 Risk Allele G variant A/G http://www.aruplab.com/guides/ug/tests/2005555.jsp

PLOD1 Rs4846080 Risk Allele G variant A/G http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLOD1

PLOD1 Rs6697996 Risk Allele G variant G/T http://preventiongenetics.com/clinical-dna-testing/test/ehlersdanlos-syndrome-kyphoscoliotic-form-via-the-plod1-gene/1398/

PLOD1 Rs2336379 Risk Allele G variant A/G http://preventiongenetics.com/clinical-dna-testing/test/ehlersdanlos-syndrome-kyphoscoliotic-form-via-the-plod1-gene/1146/

PLOD1 Rs7529452 Risk Allele T variant C/T http://disorders.eyes.arizona.edu/category/genes/plod1

PLOD1 Rs2273285 Risk Allele T variant G/T http://www.phosphosite.org/proteinAction.do?id=20860&showAllSites=true

PLOD1 i5000427 Risk Allele A variant A/G http://www.phosphosite.org/proteinAction.do?id=20861&showAllSites=true

PLOD1 Rs2273289 Risk Allele C variant C/T http://www.ashg.org/2009meeting/abstracts/fulltext/f20611.htm

PLOD1 Rs7529312 Risk Allele C variant C/T http://www.wikigenes.org/e/gene/e/5351.html

Page 6: EDS Genes From Sterling Hill

PLOD1 i5000428 Risk Allele T variant C/T http://www.uniprot.org/citations/15979919

PLOD1 Rs879690 Risk Allele C C/T http://www.sciencedirect.com/science/article/pii/S1096719205001381

PLOD3 Rs4729671 Risk Allele G variant A/G http://www.ncbi.nlm.nih.gov/gene/8985

PLOD3 Rs7802724 Risk Allele G variant A/G http://www.genecards.org/cgi-bin/carddisp.pl?gene=PLOD3

PLOD3 Rs10233414 Risk Allele T variant C/T http://en.wikipedia.org/wiki/PLOD3

PLOD3 Rs1468358 Risk Allele C variant C/T https://targetexplorer.ingenuity.com/gene/EG/8985/pathways

PLOD3 Rs7777930 Risk Allele T variant C/T http://www.metalife.com/OMIM/603066

PLOD3 Rs35929039 Risk Allele A variant A/G http://www.wikigenes.org/e/gene/e/8985.html

PLOD3 Rs1546842 Risk Allele A variant A/C http://www.phenomicdb.de/final.asp?name=PLOD3-procollagen-lysine-2-oxoglutarate-5-dioxygenase-3&geneid=8985&genotype=21817714&phenotype=1

PLOD3 Rs1546841 Risk Allele A variant A/G http://www.avivasysbio.com/plod3-antibody-arp62192-p050.html

PLOD3 Rs1546840 Risk Allele A variant A/G http://www.mybiosource.com/datasheet.php?products_id=1162404

SERPINF1 Rs1136287 Risk Allele C Variant C/T http://www.snpedia.com/index.php/Rs1136287

SERPINF1 Rs12150053 Risk Allele C Variant C/T http://www.snpedia.com/index.php/Rs12150053

SERPINF1 Rs9913583 Risk Allele A Variant A/C http://www.snpedia.com/index.php/Rs9913583

SERPINH1 Rs606452 Risk Allele A Variant A/C http://www.pnas.org/content/early/2012/07/25/1208072109.full.pdf

Page 7: EDS Genes From Sterling Hill

SP7 Rs10876432 Risk Allele G Variant A/G http://www.snpedia.com/index.php/Rs10876432

SP7 Rs2016266 Risk Allele G Variant A/G http://www.snpedia.com/index.php/Rs2016266

TGFB1 Rs11466314 Risk Allele T Variant C/T Extremely Rare http://www.ncbi.nlm.nih.gov/pubmed/12646579

TGFB1 Rs1800468 Risk Allele T Variant C/T Very Rare http://www.gopubmed.org/col3a1.html

TGFB1 Rs1800469 Risk Allele A Variant A/G http://www.snpedia.com/index.php/Rs1800469 TGFB1 Rs1800471 Risk Allele G Variant C/G http://www.snpedia.com/index.php/Rs1800471 TGFB1 Rs1800472 Risk Allele A Variant A/G http://www.snpedia.com/index.php/Rs1800472

TGFB1 Rs2241715 Risk Allele A Variant A/C http://books.google.com/books?id=6BXL1I2QAOoC&pg=PA19&lpg=PA19&dq=tgfb1+ehlers+danlos&source=bl&ots=ZhbPTyIk0z&sig=VqtkJTE2uJD-_UVtdE-L5AhpO_o&hl=en&sa=X&ei=JdukUcDWBuSMyQG-v4HIBg&ved=0CEMQ6AEwAzge#v=onepage&q=tgfb1%20ehlers%20danlos&f=false

TGFB1 Rs8110090 Risk Allele G Variant A/G http://www.malacards.org/card/marfan_syndrome

TGFB1 Rs8179181 Risk Allele A Variant A/G http://www.atsjournals.org/doi/pdf/10.1513/pats.200706-078ET

WNT1 Rs17123475 Risk Allele T Variant C/T https://oi.gene.le.ac.uk/variants_legend.php?select_db=WNT1

WNT1 Rs12830005 Risk Allele A Variant A/C http://europepmc.org/articles/PMC1618601/reload=0;jsessionid=u4C9jxBZfNAsnGVtx1gn.0

Fluoroquinolones directly impact COL genes http://www.sciencedirect.com/science/article/pii/S1440244007001387 http://www.sciencedirect.com/science/article/pii/S1058274611005192 http://www.sciencedirect.com/science/article/pii/S0020138311005249 http://onlinelibrary.wiley.com/doi/10.1111/j.1600-0838.2005.00456.x/abstract;jsessionid=97579D89C9F74EC5C9E22DEB6C287FFE.d01t01?deniedAccessCustomisedMessage=&userIsAuthenticated=false

Page 8: EDS Genes From Sterling Hill

http://www.biomedcentral.com/content/pdf/1755-1536-3-9.pdf

Fluoroquinolones directly impact ADAMTS2 http://www.sciencedirect.com/science/article/pii/S1058274611005179

Fluoroquinolones directly impact BMP1 http://www.medicinaoral.com/pubmed/medoralv16_i7_p900.pdf

Fluoroquinolones directly impact FBN1 http://jcm.asm.org/content/41/7/3273.short http://books.google.com/books?hl=en&lr=&id=Pm1NQ4CKIjkC&oi=fnd&pg=PA403&dq=fluoroquinolone+FBN1&ots=Gyt_pi2BF7&sig=V5Xr8BYZNT09cBlQPkRm9EbQ2hI#v=onepage&q&f=false http://www.hindawi.com/isrn/microbiology/2012/965356/

Fluoroquinolones directly impact PLOD http://www.hindawi.com/isrn/microbiology/2012/965356/

Fluoroquinolones impact ribonucleotide reductase genes http://uu.diva-portal.org/smash/record.jsf?pid=diva2:514061 http://www.jbc.org/content/279/38/40174.short http://scholar.google.com/scholar?q=fluoroquinolone++Ribonucleotide+Reductase+&btnG=&hl=en&as_sdt=0%2C14 http://scholar.google.com/scholar?q=fluoroquinolone++Ribonucleotide+Reductase+&btnG=&hl=en&as_sdt=0%2C14 http://www.sciencedirect.com/science/article/pii/S1369527409000903 http://wiredspace.wits.ac.za/handle/10539/7254 http://www.sciencedirect.com/science/article/pii/027753879500219I http://jb.asm.org/content/189/2/531.short

Additional research to look into:

Fluoroquinolones and DNA damage 6,970 results http://scholar.google.com/scholar?q=DNA+damage+fluoroquinolones&btnG=&hl=en&as_sdt=0%2C14

Fluoroquinolones and hallucinations: 958 results http://scholar.google.com/scholar?q=hallucinations+fluoroquinolones&btnG=&hl=en&as_sdt=0%2C14

Fluoroquinolones and pineal gland damage 98 results http://scholar.google.com/scholar?hl=en&as_sdt=0,14&q=pineal+gland+fluoroquinolones

Page 9: EDS Genes From Sterling Hill