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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Disease and TMCO1[original query]
Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye.
Investigative ophthalmology & visual science 2012 Aug 53 (8): 4917-25.
Sharma Shiwani, Burdon Kathryn P, Chidlow Glyn, Klebe Sonja, Crawford April, Dimasi David P, Dave Alpana, Martin Sarah, Javadiyan Shahrbanou, Wood John P M, Casson Robert, Danoy Patrick, Griggs Kim, Hewitt Alex W, Landers John, Mitchell Paul, Mackey David A, Craig Jamie
Common genetic determinants of intraocular pressure and primary open-angle glaucoma. GWAS Catalog
PLoS genetics 2012 8 (5): e1002611.
van Koolwijk Leonieke M E, Ramdas Wishal D, Ikram M Kamran, Jansonius Nomdo M, Pasutto Francesca, Hysi Pirro G, Macgregor Stuart, Janssen Sarah F, Hewitt Alex W, Viswanathan Ananth C, ten Brink Jacoline B, Hosseini S Mohsen, Amin Najaf, Despriet Dominiek D G, Willemse-Assink Jacqueline J M, Kramer Rogier, Rivadeneira Fernando, Struchalin Maksim, Aulchenko Yurii S, Weisschuh Nicole, Zenkel Matthias, Mardin Christian Y, Gramer Eugen, Welge-Lüssen Ulrich, Montgomery Grant W, Carbonaro Francis, Young Terri L, , Bellenguez Céline, McGuffin Peter, Foster Paul J, Topouzis Fotis, Mitchell Paul, Wang Jie Jin, Wong Tien Y, Czudowska Monika A, Hofman Albert, Uitterlinden Andre G, Wolfs Roger C W, de Jong Paulus T V M, Oostra Ben A, Paterson Andrew D, , Mackey David A, Bergen Arthur A B, Reis André, Hammond Christopher J, Vingerling Johannes R, Lemij Hans G, Klaver Caroline C W, van Duijn Cornelia
ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure. GWAS Catalog
Human molecular genetics 2015 May 24 (9): 2689-99.
Springelkamp Henriët, Iglesias Adriana I, Cuellar-Partida Gabriel, Amin Najaf, Burdon Kathryn P, van Leeuwen Elisabeth M, Gharahkhani Puya, Mishra Aniket, van der Lee Sven J, Hewitt Alex W, Rivadeneira Fernando, Viswanathan Ananth C, Wolfs Roger C W, Martin Nicholas G, Ramdas Wishal D, van Koolwijk Leonieke M, Pennell Craig E, Vingerling Johannes R, Mountain Jenny E, Uitterlinden André G, Hofman Albert, Mitchell Paul, Lemij Hans G, Wang Jie Jin, Klaver Caroline C W, Mackey David A, Craig Jamie E, van Duijn Cornelia M, MacGregor Stua
Glaucoma Risk Alleles in the Ocular Hypertension Treatment Study.
Ophthalmology 2016 Oct .
Scheetz Todd E, Faga Ben, Ortega Lizette, Roos Ben R, Gordon Mae O, Kass Michael A, Wang Kai, Fingert John
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
European journal of human genetics : EJHG 2020 Mar .
Hengel Holger, Buchert Rebecca, Sturm Marc, Haack Tobias B, Schelling Yvonne, Mahajnah Muhammad, Sharkia Rajech, Azem Abdussalam, Balousha Ghassan, Ghanem Zaid, Falana Mohammed, Balousha Osama, Ayesh Suhail, Keimer Reinhard, Deigendesch Werner, Zaidan Jimmy, Marzouqa Hiyam, Bauer Peter, Schöls Ludg
Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes.
Frontiers in genetics 2022 13 945296.
Molloy B, Jones E R, Linhares N D, Buckley P G, Leahy T R, Lynch B, Knerr I, King M D, Gorman K
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