Rare Disease Day 2018

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From GWAS Catalog

The Catalog is a quality controlled, manually curated, literature-derived collection of all published genome-wide association studies.

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• Genome-wide association study in an admixed case series reveals IL12A as a new candidate in Behçet disease.  
  PloS one 2015 10 (3): e0119085.
  Kappen Jasper H, Medina-Gomez Carolina, van Hagen P Martin, Stolk Lisette, Estrada Karol, Rivadeneira Fernando, Uitterlinden Andre G, Stanford Miles R, Ben-Chetrit Eldat, Wallace Graham R, Soylu Merih, van Laar Jan A
• Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.  
  Nature genetics 2013 Sep 45 (9): 1044-9.
  Bezzina Connie R, Barc Julien, Mizusawa Yuka, Remme Carol Ann, Gourraud Jean-Baptiste, Simonet Floriane, Verkerk Arie O, Schwartz Peter J, Crotti Lia, Dagradi Federica, Guicheney Pascale, Fressart Véronique, Leenhardt Antoine, Antzelevitch Charles, Bartkowiak Susan, Borggrefe Martin, Schimpf Rainer, Schulze-Bahr Eric, Zumhagen Sven, Behr Elijah R, Bastiaenen Rachel, Tfelt-Hansen Jacob, Olesen Morten Salling, Kääb Stefan, Beckmann Britt M, Weeke Peter, Watanabe Hiroshi, Endo Naoto, Minamino Tohru, Horie Minoru, Ohno Seiko, Hasegawa Kanae, Makita Naomasa, Nogami Akihiko, Shimizu Wataru, Aiba Takeshi, Froguel Philippe, Balkau Beverley, Lantieri Olivier, Torchio Margherita, Wiese Cornelia, Weber David, Wolswinkel Rianne, Coronel Ruben, Boukens Bas J, Bézieau Stéphane, Charpentier Eric, Chatel Stéphanie, Despres Aurore, Gros Françoise, Kyndt Florence, Lecointe Simon, Lindenbaum Pierre, Portero Vincent, Violleau Jade, Gessler Manfred, Tan Hanno L, Roden Dan M, Christoffels Vincent M, Le Marec Hervé, Wilde Arthur A, Probst Vincent, Schott Jean-Jacques, Dina Christian, Redon Richa
• Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.  
  Orphanet journal of rare diseases 2011 6 (1): 52.
  Génin Emmanuelle, Schumacher Martin, Roujeau Jean-Claude, Naldi Luigi, Liss Yvonne, Kazma Rémi, Sekula Peggy, Hovnanian Alain, Mockenhaupt Ma

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