EDEM3 c.2236C>T ;(p.P746S)

Variant ID: 1-184672098-G-A

NM_025191.3(EDEM3):c.2236C>T;(p.P746S)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


The early life course-related traits with three psychiatric disorders: A two-sample Mendelian randomization study.

Frontiers In Psychiatry
He, Renke R; Mo, Jiaying J; Zhu, Kejing K; Luo, Qinyu Q; Liu, Xueying X; Huang, Hefeng H; Sheng, Jianzhong J
Publication Date: 2023

Variant appearance in text: rs78444298
PubMed Link: 37025349
Variant Present in the following documents:
  • Main text
  • fpsyt-14-1098664.pdf
View BVdb publication page



Circulating free testosterone and risk of aggressive prostate cancer: Prospective and Mendelian randomisation analyses in international consortia.

International Journal Of Cancer
Watts, Eleanor L EL; Perez-Cornago, Aurora A; Fensom, Georgina K GK; Smith-Byrne, Karl K; Noor, Urwah U; Andrews, Colm D CD; Gunter, Marc J MJ; Holmes, Michael V MV; Martin, Richard M RM; Tsilidis, Konstantinos K KK; Albanes, Demetrius D; Barricarte, Aurelio A; Bueno-de-Mesquita, Bas B; Chen, Chu C; Cohn, Barbara A BA; Dimou, Niki L NL; Ferrucci, Luigi L; Flicker, Leon L; Freedman, Neal D ND; Giles, Graham G GG; Giovannucci, Edward L EL; Goodman, Gary E GE; Haiman, Christopher A CA; Hankey, Graeme J GJ; Huang, Jiaqi J; Huang, Wen-Yi WY; Hurwitz, Lauren M LM; Kaaks, Rudolf R; Knekt, Paul P; Kubo, Tatsuhiko T; Langseth, Hilde H; Laughlin, Gail G; Le Marchand, Loic L; Luostarinen, Tapio T; MacInnis, Robert J RJ; Mäenpää, Hanna O HO; Männistö, Satu S; Metter, E Jeffrey EJ; Mikami, Kazuya K; Mucci, Lorelei A LA; Olsen, Anja W AW; Ozasa, Kotaro K; Palli, Domenico D; Penney, Kathryn L KL; Platz, Elizabeth A EA; Rissanen, Harri H; Sawada, Norie N; Schenk, Jeannette M JM; Stattin, Pär P; Tamakoshi, Akiko A; Thysell, Elin E; Tsai, Chiaojung Jillian CJ; Tsugane, Shoichiro S; Vatten, Lars L; Weiderpass, Elisabete E; Weinstein, Stephanie J SJ; Wilkens, Lynne R LR; Yeap, Bu B BB; , ; , ; , ; , ; , ; Allen, Naomi E NE; Key, Timothy J TJ; Travis, Ruth C RC
Publication Date: 2022-10-01

Variant appearance in text: rs78444298
PubMed Link: 35579976
Variant Present in the following documents:
  • IJC-151-1033-s001.pdf
View BVdb publication page



Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.

American Journal Of Human Genetics
Polla, Daniel L DL; Edmondson, Andrew C AC; Duvet, Sandrine S; March, Michael E ME; Sousa, Ana Berta AB; Lehman, Anna A; , ; Niyazov, Dmitriy D; van Dijk, Fleur F; Demirdas, Serwet S; van Slegtenhorst, Marjon A MA; Kievit, Anneke J A AJA; Schulz, Celine C; Armstrong, Linlea L; Bi, Xin X; Rader, Daniel J DJ; Izumi, Kosuke K; Zackai, Elaine H EH; de Franco, Elisa E; Jorge, Paula P; Huffels, Sophie C SC; Hommersom, Marina M; Ellard, Sian S; Lefeber, Dirk J DJ; Santani, Avni A; Hand, Nicholas J NJ; van Bokhoven, Hans H; He, Miao M; de Brouwer, Arjan P M APM
Publication Date: 2021-07-01

Variant appearance in text: EDEM3: Pro746Ser; rs78444298
PubMed Link: 34143952
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology
Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J
Publication Date: 2021-07

Variant appearance in text: EDEM3: 2236C>T; P746S
PubMed Link: 33482222
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
View BVdb publication page



EDEM3 Modulates Plasma Triglyceride Level through Its Regulation of LRP1 Expression.

Iscience
Xu, Yu-Xin YX; Peloso, Gina M GM; Nagai, Taylor H TH; Mizoguchi, Taiji T; Deik, Amy A; Bullock, Kevin K; Lin, Honghuang H; Musunuru, Kiran K; Yang, Qiong Q; Vasan, Ramachandran S RS; Gerszten, Robert E RE; Clish, Clary B CB; Rader, Daniel D; Kathiresan, Sekar S
Publication Date: 2020-04-24

Variant appearance in text: EDEM3: P746S; rs78444298
PubMed Link: 32213464
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
View BVdb publication page



A Mendelian Randomization Study Provides Evidence That Adiposity and Dyslipidemia Lead to Lower Urinary Albumin-to-Creatinine Ratio, a Marker of Microvascular Function.

Diabetes
Casanova, Francesco F; Wood, Andrew R AR; Yaghootkar, Hanieh H; Beaumont, Robert N RN; Jones, Samuel E SE; Gooding, Kim M KM; Aizawa, Kunihiko K; Strain, W David WD; Hattersley, Andrew T AT; Khan, Faisel F; Shore, Angela C AC; Frayling, Timothy M TM; Tyrrell, Jessica J
Publication Date: 2020-05

Variant appearance in text: rs78444298
PubMed Link: 31915152
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide association study implicates multiple mechanisms influencing raised urinary albumin-creatinine ratio.

Human Molecular Genetics
Casanova, Francesco F; Tyrrell, Jessica J; Beaumont, Robin N RN; Ji, Yingjie Y; Jones, Samuel E SE; Hattersley, Andrew T AT; Weedon, Michael N MN; Murray, Anna A; Shore, Angela C AC; Frayling, Timothy M TM; Wood, Andrew R AR
Publication Date: 2019-12-15

Variant appearance in text: rs78444298
PubMed Link: 31630189
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: EDEM3: P746S; rs78444298
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.

Nature Communications
Teumer, Alexander A; Li, Yong Y; Ghasemi, Sahar S; Prins, Bram P BP; Wuttke, Matthias M; Hermle, Tobias T; Giri, Ayush A; Sieber, Karsten B KB; Qiu, Chengxiang C; Kirsten, Holger H; Tin, Adrienne A; Chu, Audrey Y AY; Bansal, Nisha N; Feitosa, Mary F MF; Wang, Lihua L; Chai, Jin-Fang JF; Cocca, Massimiliano M; Fuchsberger, Christian C; Gorski, Mathias M; Hoppmann, Anselm A; Horn, Katrin K; Li, Man M; Marten, Jonathan J; Noce, Damia D; Nutile, Teresa T; Sedaghat, Sanaz S; Sveinbjornsson, Gardar G; Tayo, Bamidele O BO; van der Most, Peter J PJ; Xu, Yizhe Y; Yu, Zhi Z; Gerstner, Lea L; Ärnlöv, Johan J; Bakker, Stephan J L SJL; Baptista, Daniela D; Biggs, Mary L ML; Boerwinkle, Eric E; Brenner, Hermann H; Burkhardt, Ralph R; Carroll, Robert J RJ; Chee, Miao-Li ML; Chee, Miao-Ling ML; Chen, Mengmeng M; Cheng, Ching-Yu CY; Cook, James P JP; Coresh, Josef J; Corre, Tanguy T; Danesh, John J; de Borst, Martin H MH; De Grandi, Alessandro A; de Mutsert, Renée R; de Vries, Aiko P J APJ; Degenhardt, Frauke F; Dittrich, Katalin K; Divers, Jasmin J; Eckardt, Kai-Uwe KU; Ehret, Georg G; Endlich, Karlhans K; Felix, Janine F JF; Franco, Oscar H OH; Franke, Andre A; Freedman, Barry I BI; Freitag-Wolf, Sandra S; Gansevoort, Ron T RT; Giedraitis, Vilmantas V; Gögele, Martin M; Grundner-Culemann, Franziska F; Gudbjartsson, Daniel F DF; Gudnason, Vilmundur V; Hamet, Pavel P; Harris, Tamara B TB; Hicks, Andrew A AA; Holm, Hilma H; Foo, Valencia Hui Xian VHX; Hwang, Shih-Jen SJ; Ikram, M Arfan MA; Ingelsson, Erik E; Jaddoe, Vincent W V VWV; Jakobsdottir, Johanna J; Josyula, Navya Shilpa NS; Jung, Bettina B; Kähönen, Mika M; Khor, Chiea-Chuen CC; Kiess, Wieland W; Koenig, Wolfgang W; Körner, Antje A; Kovacs, Peter P; Kramer, Holly H; Krämer, Bernhard K BK; Kronenberg, Florian F; Lange, Leslie A LA; Langefeld, Carl D CD; Lee, Jeannette Jen-Mai JJ; Lehtimäki, Terho T; Lieb, Wolfgang W; Lim, Su-Chi SC; Lind, Lars L; Lindgren, Cecilia M CM; Liu, Jianjun J; Loeffler, Markus M; Lyytikäinen, Leo-Pekka LP; Mahajan, Anubha A; Maranville, Joseph C JC; Mascalzoni, Deborah D; McMullen, Barbara B; Meisinger, Christa C; Meitinger, Thomas T; Miliku, Kozeta K; Mook-Kanamori, Dennis O DO; Müller-Nurasyid, Martina M; Mychaleckyj, Josyf C JC; Nauck, Matthias M; Nikus, Kjell K; Ning, Boting B; Noordam, Raymond R; Connell, Jeffrey O' JO; Olafsson, Isleifur I; Palmer, Nicholette D ND; Peters, Annette A; Podgornaia, Anna I AI; Ponte, Belen B; Poulain, Tanja T; Pramstaller, Peter P PP; Rabelink, Ton J TJ; Raffield, Laura M LM; Reilly, Dermot F DF; Rettig, Rainer R; Rheinberger, Myriam M; Rice, Kenneth M KM; Rivadeneira, Fernando F; Runz, Heiko H; Ryan, Kathleen A KA; Sabanayagam, Charumathi C; Saum, Kai-Uwe KU; Schöttker, Ben B; Shaffer, Christian M CM; Shi, Yuan Y; Smith, Albert V AV; Strauch, Konstantin K; Stumvoll, Michael M; Sun, Benjamin B BB; Szymczak, Silke S; Tai, E-Shyong ES; Tan, Nicholas Y Q NYQ; Taylor, Kent D KD; Teren, Andrej A; Tham, Yih-Chung YC; Thiery, Joachim J; Thio, Chris H L CHL; Thomsen, Hauke H; Thorsteinsdottir, Unnur U; Tönjes, Anke A; Tremblay, Johanne J; Uitterlinden, André G AG; van der Harst, Pim P; Verweij, Niek N; Vogelezang, Suzanne S; Völker, Uwe U; Waldenberger, Melanie M; Wang, Chaolong C; Wilson, Otis D OD; Wong, Charlene C; Wong, Tien-Yin TY; Yang, Qiong Q; Yasuda, Masayuki M; Akilesh, Shreeram S; Bochud, Murielle M; Böger, Carsten A CA; Devuyst, Olivier O; Edwards, Todd L TL; Ho, Kevin K; Morris, Andrew P AP; Parsa, Afshin A; Pendergrass, Sarah A SA; Psaty, Bruce M BM; Rotter, Jerome I JI; Stefansson, Kari K; Wilson, James G JG; Susztak, Katalin K; Snieder, Harold H; Heid, Iris M IM; Scholz, Markus M; Butterworth, Adam S AS; Hung, Adriana M AM; Pattaro, Cristian C; Köttgen, Anna A
Publication Date: 2019-09-11

Variant appearance in text: EDEM3: Pro746Ser; rs78444298
PubMed Link: 31511532
Variant Present in the following documents:
  • 41467_2019_Article_11576.pdf
  • 41467_2019_11576_MOESM2_ESM.pdf
View BVdb publication page



A catalog of genetic loci associated with kidney function from analyses of a million individuals.

Nature Genetics
Wuttke, Matthias M; Li, Yong Y; Li, Man M; Sieber, Karsten B KB; Feitosa, Mary F MF; Gorski, Mathias M; Tin, Adrienne A; Wang, Lihua L; Chu, Audrey Y AY; Hoppmann, Anselm A; Kirsten, Holger H; Giri, Ayush A; Chai, Jin-Fang JF; Sveinbjornsson, Gardar G; Tayo, Bamidele O BO; Nutile, Teresa T; Fuchsberger, Christian C; Marten, Jonathan J; Cocca, Massimiliano M; Ghasemi, Sahar S; Xu, Yizhe Y; Horn, Katrin K; Noce, Damia D; van der Most, Peter J PJ; Sedaghat, Sanaz S; Yu, Zhi Z; Akiyama, Masato M; Afaq, Saima S; Ahluwalia, Tarunveer S TS; Almgren, Peter P; Amin, Najaf N; Ärnlöv, Johan J; Bakker, Stephan J L SJL; Bansal, Nisha N; Baptista, Daniela D; Bergmann, Sven S; Biggs, Mary L ML; Biino, Ginevra G; Boehnke, Michael M; Boerwinkle, Eric E; Boissel, Mathilde M; Bottinger, Erwin P EP; Boutin, Thibaud S TS; Brenner, Hermann H; Brumat, Marco M; Burkhardt, Ralph R; Butterworth, Adam S AS; Campana, Eric E; Campbell, Archie A; Campbell, Harry H; Canouil, Mickaël M; Carroll, Robert J RJ; Catamo, Eulalia E; Chambers, John C JC; Chee, Miao-Ling ML; Chee, Miao-Li ML; Chen, Xu X; Cheng, Ching-Yu CY; Cheng, Yurong Y; Christensen, Kaare K; Cifkova, Renata R; Ciullo, Marina M; Concas, Maria Pina MP; Cook, James P JP; Coresh, Josef J; Corre, Tanguy T; Sala, Cinzia Felicita CF; Cusi, Daniele D; Danesh, John J; Daw, E Warwick EW; de Borst, Martin H MH; De Grandi, Alessandro A; de Mutsert, Renée R; de Vries, Aiko P J APJ; Degenhardt, Frauke F; Delgado, Graciela G; Demirkan, Ayse A; Di Angelantonio, Emanuele E; Dittrich, Katalin K; Divers, Jasmin J; Dorajoo, Rajkumar R; Eckardt, Kai-Uwe KU; Ehret, Georg G; Elliott, Paul P; Endlich, Karlhans K; Evans, Michele K MK; Felix, Janine F JF; Foo, Valencia Hui Xian VHX; Franco, Oscar H OH; Franke, Andre A; Freedman, Barry I BI; Freitag-Wolf, Sandra S; Friedlander, Yechiel Y; Froguel, Philippe P; Gansevoort, Ron T RT; Gao, He H; Gasparini, Paolo P; Gaziano, J Michael JM; Giedraitis, Vilmantas V; Gieger, Christian C; Girotto, Giorgia G; Giulianini, Franco F; Gögele, Martin M; Gordon, Scott D SD; Gudbjartsson, Daniel F DF; Gudnason, Vilmundur V; Haller, Toomas T; Hamet, Pavel P; Harris, Tamara B TB; Hartman, Catharina A CA; Hayward, Caroline C; Hellwege, Jacklyn N JN; Heng, Chew-Kiat CK; Hicks, Andrew A AA; Hofer, Edith E; Huang, Wei W; Hutri-Kähönen, Nina N; Hwang, Shih-Jen SJ; Ikram, M Arfan MA; Indridason, Olafur S OS; Ingelsson, Erik E; Ising, Marcus M; Jaddoe, Vincent W V VWV; Jakobsdottir, Johanna J; Jonas, Jost B JB; Joshi, Peter K PK; Josyula, Navya Shilpa NS; Jung, Bettina B; Kähönen, Mika M; Kamatani, Yoichiro Y; Kammerer, Candace M CM; Kanai, Masahiro M; Kastarinen, Mika M; Kerr, Shona M SM; Khor, Chiea-Chuen CC; Kiess, Wieland W; Kleber, Marcus E ME; Koenig, Wolfgang W; Kooner, Jaspal S JS; Körner, Antje A; Kovacs, Peter P; Kraja, Aldi T AT; Krajcoviechova, Alena A; Kramer, Holly H; Krämer, Bernhard K BK; Kronenberg, Florian F; Kubo, Michiaki M; Kühnel, Brigitte B; Kuokkanen, Mikko M; Kuusisto, Johanna J; La Bianca, Martina M; Laakso, Markku M; Lange, Leslie A LA; Langefeld, Carl D CD; Lee, Jeannette Jen-Mai JJ; Lehne, Benjamin B; Lehtimäki, Terho T; Lieb, Wolfgang W; , ; Lim, Su-Chi SC; Lind, Lars L; Lindgren, Cecilia M CM; Liu, Jun J; Liu, Jianjun J; Loeffler, Markus M; Loos, Ruth J F RJF; Lucae, Susanne S; Lukas, Mary Ann MA; Lyytikäinen, Leo-Pekka LP; Mägi, Reedik R; Magnusson, Patrik K E PKE; Mahajan, Anubha A; Martin, Nicholas G NG; Martins, Jade J; März, Winfried W; Mascalzoni, Deborah D; Matsuda, Koichi K; Meisinger, Christa C; Meitinger, Thomas T; Melander, Olle O; Metspalu, Andres A; Mikaelsdottir, Evgenia K EK; Milaneschi, Yuri Y; Miliku, Kozeta K; Mishra, Pashupati P PP; , ; Mohlke, Karen L KL; Mononen, Nina N; Montgomery, Grant W GW; Mook-Kanamori, Dennis O DO; Mychaleckyj, Josyf C JC; Nadkarni, Girish N GN; Nalls, Mike A MA; Nauck, Matthias M; Nikus, Kjell K; Ning, Boting B; Nolte, Ilja M IM; Noordam, Raymond R; O'Connell, Jeffrey J; O'Donoghue, Michelle L ML; Olafsson, Isleifur I; Oldehinkel, Albertine J AJ; Orho-Melander, Marju M; Ouwehand, Willem H WH; Padmanabhan, Sandosh S; Palmer, Nicholette D ND; Palsson, Runolfur R; Penninx, Brenda W J H BWJH; Perls, Thomas T; Perola, Markus M; Pirastu, Mario M; Pirastu, Nicola N; Pistis, Giorgio G; Podgornaia, Anna I AI; Polasek, Ozren O; Ponte, Belen B; Porteous, David J DJ; Poulain, Tanja T; Pramstaller, Peter P PP; Preuss, Michael H MH; Prins, Bram P BP; Province, Michael A MA; Rabelink, Ton J TJ; Raffield, Laura M LM; Raitakari, Olli T OT; Reilly, Dermot F DF; Rettig, Rainer R; Rheinberger, Myriam M; Rice, Kenneth M KM; Ridker, Paul M PM; Rivadeneira, Fernando F; Rizzi, Federica F; Roberts, David J DJ; Robino, Antonietta A; Rossing, Peter P; Rudan, Igor I; Rueedi, Rico R; Ruggiero, Daniela D; Ryan, Kathleen A KA; Saba, Yasaman Y; Sabanayagam, Charumathi C; Salomaa, Veikko V; Salvi, Erika E; Saum, Kai-Uwe KU; Schmidt, Helena H; Schmidt, Reinhold R; Schöttker, Ben B; Schulz, Christina-Alexandra CA; Schupf, Nicole N; Shaffer, Christian M CM; Shi, Yuan Y; Smith, Albert V AV; Smith, Blair H BH; Soranzo, Nicole N; Spracklen, Cassandra N CN; Strauch, Konstantin K; Stringham, Heather M HM; Stumvoll, Michael M; Svensson, Per O PO; Szymczak, Silke S; Tai, E-Shyong ES; Tajuddin, Salman M SM; Tan, Nicholas Y Q NYQ; Taylor, Kent D KD; Teren, Andrej A; Tham, Yih-Chung YC; Thiery, Joachim J; Thio, Chris H L CHL; Thomsen, Hauke H; Thorleifsson, Gudmar G; Toniolo, Daniela D; Tönjes, Anke A; Tremblay, Johanne J; Tzoulaki, Ioanna I; Uitterlinden, André G AG; Vaccargiu, Simona S; van Dam, Rob M RM; van der Harst, Pim P; van Duijn, Cornelia M CM; Velez Edward, Digna R DR; Verweij, Niek N; Vogelezang, Suzanne S; Völker, Uwe U; Vollenweider, Peter P; Waeber, Gerard G; Waldenberger, Melanie M; Wallentin, Lars L; Wang, Ya Xing YX; Wang, Chaolong C; Waterworth, Dawn M DM; Bin Wei, Wen W; White, Harvey H; Whitfield, John B JB; Wild, Sarah H SH; Wilson, James F JF; Wojczynski, Mary K MK; Wong, Charlene C; Wong, Tien-Yin TY; Xu, Liang L; Yang, Qiong Q; Yasuda, Masayuki M; Yerges-Armstrong, Laura M LM; Zhang, Weihua W; Zonderman, Alan B AB; Rotter, Jerome I JI; Bochud, Murielle M; Psaty, Bruce M BM; Vitart, Veronique V; Wilson, James G JG; Dehghan, Abbas A; Parsa, Afshin A; Chasman, Daniel I DI; Ho, Kevin K; Morris, Andrew P AP; Devuyst, Olivier O; Akilesh, Shreeram S; Pendergrass, Sarah A SA; Sim, Xueling X; Böger, Carsten A CA; Okada, Yukinori Y; Edwards, Todd L TL; Snieder, Harold H; Stefansson, Kari K; Hung, Adriana M AM; Heid, Iris M IM; Scholz, Markus M; Teumer, Alexander A; Köttgen, Anna A; Pattaro, Cristian C
Publication Date: 2019-06

Variant appearance in text: EDEM3: Pro746Ser; rs78444298
PubMed Link: 31152163
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: EDEM3: P746S; rs78444298
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 9
View BVdb publication page



SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function.

Journal Of The American Society Of Nephrology : Jasn
Li, Man M; Li, Yong Y; Weeks, Olivia O; Mijatovic, Vladan V; Teumer, Alexander A; Huffman, Jennifer E JE; Tromp, Gerard G; Fuchsberger, Christian C; Gorski, Mathias M; Lyytikäinen, Leo-Pekka LP; Nutile, Teresa T; Sedaghat, Sanaz S; Sorice, Rossella R; Tin, Adrienne A; Yang, Qiong Q; Ahluwalia, Tarunveer S TS; Arking, Dan E DE; Bihlmeyer, Nathan A NA; Böger, Carsten A CA; Carroll, Robert J RJ; Chasman, Daniel I DI; Cornelis, Marilyn C MC; Dehghan, Abbas A; Faul, Jessica D JD; Feitosa, Mary F MF; Gambaro, Giovanni G; Gasparini, Paolo P; Giulianini, Franco F; Heid, Iris I; Huang, Jinyan J; Imboden, Medea M; Jackson, Anne U AU; Jeff, Janina J; Jhun, Min A MA; Katz, Ronit R; Kifley, Annette A; Kilpeläinen, Tuomas O TO; Kumar, Ashish A; Laakso, Markku M; Li-Gao, Ruifang R; Lohman, Kurt K; Lu, Yingchang Y; Mägi, Reedik R; Malerba, Giovanni G; Mihailov, Evelin E; Mohlke, Karen L KL; Mook-Kanamori, Dennis O DO; Robino, Antonietta A; Ruderfer, Douglas D; Salvi, Erika E; Schick, Ursula M UM; Schulz, Christina-Alexandra CA; Smith, Albert V AV; Smith, Jennifer A JA; Traglia, Michela M; Yerges-Armstrong, Laura M LM; Zhao, Wei W; Goodarzi, Mark O MO; Kraja, Aldi T AT; Liu, Chunyu C; Wessel, Jennifer J; , ; , ; Boerwinkle, Eric E; Borecki, Ingrid B IB; Bork-Jensen, Jette J; Bottinger, Erwin P EP; Braga, Daniele D; Brandslund, Ivan I; Brody, Jennifer A JA; Campbell, Archie A; Carey, David J DJ; Christensen, Cramer C; Coresh, Josef J; Crook, Errol E; Curhan, Gary C GC; Cusi, Daniele D; de Boer, Ian H IH; de Vries, Aiko P J AP; Denny, Joshua C JC; Devuyst, Olivier O; Dreisbach, Albert W AW; Endlich, Karlhans K; Esko, Tõnu T; Franco, Oscar H OH; Fulop, Tibor T; Gerhard, Glenn S GS; Glümer, Charlotte C; Gottesman, Omri O; Grarup, Niels N; Gudnason, Vilmundur V; Hansen, Torben T; Harris, Tamara B TB; Hayward, Caroline C; Hocking, Lynne L; Hofman, Albert A; Hu, Frank B FB; Husemoen, Lise Lotte N LL; Jackson, Rebecca D RD; Jørgensen, Torben T; Jørgensen, Marit E ME; Kähönen, Mika M; Kardia, Sharon L R SL; König, Wolfgang W; Kooperberg, Charles C; Kriebel, Jennifer J; Launer, Lenore J LJ; Lauritzen, Torsten T; Lehtimäki, Terho T; Levy, Daniel D; Linksted, Pamela P; Linneberg, Allan A; Liu, Yongmei Y; Loos, Ruth J F RJ; Lupo, Antonio A; Meisinger, Christine C; Melander, Olle O; Metspalu, Andres A; Mitchell, Paul P; Nauck, Matthias M; Nürnberg, Peter P; Orho-Melander, Marju M; Parsa, Afshin A; Pedersen, Oluf O; Peters, Annette A; Peters, Ulrike U; Polasek, Ozren O; Porteous, David D; Probst-Hensch, Nicole M NM; Psaty, Bruce M BM; Qi, Lu L; Raitakari, Olli T OT; Reiner, Alex P AP; Rettig, Rainer R; Ridker, Paul M PM; Rivadeneira, Fernando F; Rossouw, Jacques E JE; Schmidt, Frank F; Siscovick, David D; Soranzo, Nicole N; Strauch, Konstantin K; Toniolo, Daniela D; Turner, Stephen T ST; Uitterlinden, André G AG; Ulivi, Sheila S; Velayutham, Dinesh D; Völker, Uwe U; Völzke, Henry H; Waldenberger, Melanie M; Wang, Jie Jin JJ; Weir, David R DR; Witte, Daniel D; Kuivaniemi, Helena H; Fox, Caroline S CS; Franceschini, Nora N; Goessling, Wolfram W; Köttgen, Anna A; Chu, Audrey Y AY
Publication Date: 2017-03

Variant appearance in text: EDEM3: 2236C>T; P746S; rs78444298
PubMed Link: 27920155
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: EDEM3: P746S; rs78444298
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: EDEM3: P746S; rs78444298
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: EDEM3: P746S; rs78444298
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 11
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: EDEM3: P746S; rs78444298
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page