Disease #00006 (CJD (Creutzfeldt-Jakob disease), OMIM:123400)

Official abbreviation CJD
Name Creutzfeldt-Jakob disease
OMIM ID 123400
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 69
Phenotype entries for this disease -
Associated with 2 genes PRNP, SPRN
Associated tissues -
Disease features -
Remarks -


Individuals

69 entries on 1 page. Showing entries 1 - 69.
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AscendingIndividual ID     
Reference     
Ethnic origin     
Remarks     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00000986 Collinge J1, Palmer MS, Dryden AJ.(1991) - - CJD - PRNP PRNP 1 1 Y Yang
00000987 Goldfarb LG, Haltia M, Brown P, Nieto A, Kovanen J, McCombie WR, Trapp S, Gajdusek DC.(1991) - - CJD - PRNP PRNP 1 1 Y Yang
00000988 Goldgaber D1, Goldfarb LG, Brown P, Asher DM, Brown WT, Lin S, Teener JW, Feinstone SM, Rubenstein R, Kascsak RJ, et al.(1989) - - CJD - PRNP PRNP 1 1 Y Yang
00000989 Pocchiari M1, Salvatore M, Cutruzzolá F, Genuardi M, Allocatelli CT, Masullo C, Macchi G, Alemá G, Galgani S, Xi YG, et al.(1993) - - CJD - PRNP PRNP 1 1 Y Yang
00000990 Kitamoto T1, Ohta M, Doh-ura K, Hitoshi S, Terao Y, Tateishi J.(1993) - - CJD - PRNP PRNP 1 1 Y Yang
00000991 Kitamoto T1, Ohta M, Doh-ura K, Hitoshi S, Terao Y, Tateishi J.(1993) - - CJD - PRNP PRNP 1 1 Y Yang
00000992 Mastrianni JA1, Iannicola C, Myers RM, DeArmond S, Prusiner SB.(1996) - - CJD - PRNP PRNP 1 1 Y Yang
00000993 Peoc'h K1, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, Delasnerie-Lauprêtre N, Laplanche JL.(2000) - - CJD - PRNP PRNP 1 1 Y Yang
00000994 Peoc'h K1, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, Delasnerie-Lauprêtre N, Laplanche JL.(2000) - - CJD - PRNP PRNP 1 1 Y Yang
00000995 Peoc'h K1, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, Delasnerie-Lauprêtre N, Laplanche JL.(2000) - - CJD - PRNP PRNP 1 1 Y Yang
00000996 "Mallucci GR1, Campbell TA, Dickinson A, Beck J, Holt M, Plant G, de Pauw KW, Hakin RN, Clarke CE, Howell S, Davies-Jones GA, Lawden M, Smith CM, Ince P, Ironside JW, Bridges LR(1999) - - CJD - PRNP PRNP 1 1 Y Yang
00000997 Appleby BS1, Appleby KK, Hall RC, Wallin MT.(2010) - - CJD - PRNP PRNP 1 1 Y Yang
00000998 Tartaglia MC1, Thai JN, See T, Kuo A, Harbaugh R, Raudabaugh B, Cali I, Sattavat M, Sanchez H, DeArmond SJ, Geschwind MD.(2010) - - CJD - PRNP PRNP 1 1 Y Yang
00000999 Krebs B1, Lederer RM, Windl O, Grasbon-Frodl EM, Zerr I, Kretzschmar HA.(2005) - - CJD - PRNP PRNP 1 1 Y Yang
00001000 Kotta K1, Paspaltsis I, Bostantjopoulou S, Latsoudis H, Plaitakis A, Kazis D, Collinge J, Sklaviadis T.(2006) - - CJD - PRNP PRNP 1 1 Y Yang
00001001 Heinemann U1, Krasnianski A, Meissner B, Grasbon-Frodl EM, Kretzschmar HA, Zerr I.(2008) - - CJD - PRNP PRNP 1 1 Y Yang
00001002 Roeber S1, Grasbon-Frodl EM, Windl O, Krebs B, Xiang W, Vollmert C, Illig T, Schr?ter A, Arzberger T, Weber P, Zerr I, Kretzschmar HA.(2008) - - CJD - PRNP PRNP 1 1 Y Yang
00001003 Roeber S1, Grasbon-Frodl EM, Windl O, Krebs B, Xiang W, Vollmert C, Illig T, Schr?ter A, Arzberger T, Weber P, Zerr I, Kretzschmar HA.(2008) - - CJD - PRNP PRNP 1 1 Y Yang
00001004 Ye J1, Han J, Shi Q, Zhang BY, Wang GR, Tian C, Gao C, Chen JM, Li CJ, Liu Z, Li XZ, Zhang LZ, Dong XP.(2008) - - CJD - PRNP PRNP 1 1 Y Yang
00001005 Polymenidou M1, Prokop S, Jung HH, Hewer E, Peretz D, Moos R, Tolnay M, Aguzzi A.(2011) - - CJD - PRNP PRNP 1 1 Y Yang
00001006 Pocchiari M1, Salvatore M, Cutruzzolá F, Genuardi M, Allocatelli CT, Masullo C, Macchi G, Alemá G, Galgani S, Xi YG, et al.(1993) - - CJD - PRNP PRNP 1 1 Y Yang
00001007 Pocchiari M1, Salvatore M, Cutruzzolá F, Genuardi M, Allocatelli CT, Masullo C, Macchi G, Alemá G, Galgani S, Xi YG, et al.(1993) - - CJD - PRNP PRNP 1 1 Y Yang
00001008 Beck JA1, Campbell TA, Adamson G, Poulter M, Uphill JB, Molou E, Collinge J, Mead S.(2008) - - CJD - SPRN SPRN 1 1 Y Yang
00001009 Beck JA1, Campbell TA, Adamson G, Poulter M, Uphill JB, Molou E, Collinge J, Mead S.(2008) - - CJD - SPRN SPRN 1 1 Y Yang
00001010 Beck JA1, Campbell TA, Adamson G, Poulter M, Uphill JB, Molou E, Collinge J, Mead S.(2008) - - CJD - SPRN SPRN 1 1 Y Yang
00001011 Beck JA1, Campbell TA, Adamson G, Poulter M, Uphill JB, Molou E, Collinge J, Mead S.(2008) - - CJD - SPRN SPRN 1 1 Y Yang
00001012 Cohen OS1, Chapman J, Lee H, Nitsan Z, Appel S, Hoffman C, Rosenmann H, Korczyn AD, Prohovnik I.(2011) - - CJD - PRNP PRNP 1 1 Y Yang
00001013 Polymenidou M1, Prokop S, Jung HH, Hewer E, Peretz D, Moos R, Tolnay M, Aguzzi A.(2011) - - CJD - PRNP PRNP 1 1 Y Yang
00001014 Schelzke G1, Eigenbrod S, Romero C, Varges D, Breithaupt M, Taratuto AL, Kretzschmar HA, Zerr I.(2011) - - CJD - PRNP PRNP 1 1 Y Yang
00001015 Shi Q1, Chen C, Song XN, Gao C, Tian C, Zhou W, Song XH, Yao LS, Han J, Dong XP.(2011) Chinese - CJD - PRNP PRNP 1 1 Y Yang
00001016 Chen C1, Shi Q, Tian C, Li Q, Zhou W, Gao C, Han J, Dong XP.(2011) Chinese - CJD - PRNP PRNP 1 1 Y Yang
00001017 Biljan I1, Ilc G, Giachin G, Raspadori A, Zhukov I, Plavec J, Legname G.(2011) - - CJD - PRNP PRNP 1 1 Y Yang
00001018 Takeda N1, Yokota O, Terada S, Haraguchi T, Nobukuni K, Mizuki R, Honda H, Yoshida H, Kishimoto Y, Oshima E, Ishizu H, Satoh K, Kitamoto T, Ihara Y, Uchitomi Y.(2012) - - CJD - PRNP PRNP 1 1 Y Yang
00001019 Breithaupt M1, Romero C, Kallenberg K, Begue C, Sanchez-Juan P, Eigenbrod S, Kretzschmar H, Schelzke G, Meichtry E, Taratuto A, Zerr I.(2013) - - CJD - PRNP PRNP 1 1 Y Yang
00001020 Breithaupt M1, Romero C, Kallenberg K, Begue C, Sanchez-Juan P, Eigenbrod S, Kretzschmar H, Schelzke G, Meichtry E, Taratuto A, Zerr I.(2013) - - CJD - PRNP PRNP 1 1 Y Yang
00001021 Matěj R1, Kovacs GG, Johanidesová S, Keller J, Matěj?ková M, Nováková J, Sigut V, Keller O, Rusina R.(2012) - - CJD - PRNP PRNP 1 1 Y Yang
00001022 Mu?oz-Nieto M1, Ramonet N, López-Gastón JI, Cuadrado-Corrales N, Calero O, Díaz-Hurtado M, Ipiens JR, Ramón y Cajal S, de Pedro-Cuesta J, Calero M.(2013) - - CJD - PRNP PRNP 1 1 Y Yang
00001023 Xie WL1, Shi Q, Xia SL, Zhang BY, Gong HS, Wang SB, Xu Y, Guo Y, Tian C, Zhang J, Xu BL, Liu Y, Dong XP.(2013) - - CJD - PRNP PRNP 1 1 Y Yang
00001024 Chen C1, Shi Q, Zhou W, Zhang XC, Dong JH, Hu XQ, Song XN, Liu AF, Tian C, Wang JC, Gao C, Zhang J, Han J, Dong XP.(2013) - - CJD - PRNP PRNP 1 1 Y Yang
00001025 Tian C1, Liu D, Chen C, Xu Y, Gong HS, Chen C, Shi Q, Zhang BY, Han J, Dong XP.(2013) - - CJD - PRNP PRNP 1 1 Y Yang
00001026 Iwasaki Y1, Yokoi F, Tatsumi S, Mimuro M, Iwai K, Kitamoto T, Yoshida M.(2013) Chinese - CJD - PRNP PRNP 1 1 Y Yang
00001027 Shi Q1, Chen C, Wang XJ, Zhou W, Wang JC, Zhang BY, Gao C, Gao C, Han J, Dong XP.(2013) - - CJD - PRNP PRNP 1 1 Y Yang
00001028 Zhang H1, Wang M2, Wu L3, Zhang H1, Jin T1, Wu J1, Sun L4.(2014) - - CJD - PRNP PRNP 1 1 Y Yang
00001029 Simpson M1, Johanssen V, Boyd A, Klug G, Masters CL, Li QX, Pamphlett R, McLean C, Lewis V, Collins SJ.(2013) - - CJD - PRNP PRNP 1 1 Y Yang
00001030 Marcon G1, Indaco A, Di Fede G, Suardi S, Finato N, Moretti V, Micoli S, Fociani P, Zerbi P, Pincherle A, Redaelli V, Tagliavini F, Giaccone G.(2014) - - CJD - PRNP PRNP 1 1 Y Yang
00001031 "Qina T1, Sanjo N1, Hizume M1, Higuma M1, Tomita M2, Atarashi R3, Satoh K3, Nozaki I4, Hamaguchi T5, Nakamura Y6, Kobayashi A7, Kitamoto T7, Murayama S8, Murai H9, Yamada M5(2014) - - CJD - PRNP PRNP 1 1 Y Yang
00001032 Cheng CJ, Daggett V.(2014) - - CJD - PRNP PRNP 1 1 Y Yang
00001033 Cheng CJ, Daggett V.(2014) - - CJD - PRNP PRNP 1 1 Y Yang
00001034 Lee SM, Chung M, Hwang KJ, Ju YR, Hyeon JW, Park JS, Kim CK, Choi S, Lee J, Kim SY1.(2014) - - CJD - PRNP PRNP 1 1 Y Yang
00001035 Cohen OS1, Chapman J, Korczyn AD, Warman-Alaluf N, Orlev Y, Givaty G, Nitsan Z, Appel S, Rosenmann H, Kahana E, Shechter-Amir D.(2015) - - CJD - PRNP PRNP 1 1 Y Yang
00001036 Lim JG1, Oh E, Park S, Kim YS, Lee A.(2014) - - CJD - PRNP PRNP 1 1 Y Yang
00001037 Cohen OS1, Chapman J, Korczyn AD, Nitsan Z, Appel S, Hoffmann C, Rosenmann H, Kahana E, Lee H.(2014) - - CJD - PRNP PRNP 1 1 Y Yang
00001038 Komatsu J1, Sakai K, Hamaguchi T, Sugiyama Y, Iwasa K, Yamada M.(2014) - - CJD - PRNP PRNP 1 1 Y Yang
00001039 Shi Q1, Shen XJ, Zhou W, Xiao K, Zhang XM, Zhang BY, Dong XP.(2014) - - CJD - PRNP PRNP 1 1 Y Yang
00001040 Minikel EV1, Zerr I2, Collins SJ3, Ponto C4, Boyd A3, Klug G3, Karch A4, Kenny J5, Collinge J5, Takada LT6, Forner S6, Fong JC6, Mead S5, Geschwind MD6.(2014) - - CJD - PRNP PRNP 1 1 Y Yang
00001041 Salazar R1, Cerghet M, Ramachandran V.(2014) - - CJD - PRNP PRNP 1 1 Y Yang
00005429 Chen S et al. (2015) - - CJD - PRNP PRNP 1 1 XY Liu
00005430 Peden AH et al. (2014) - - CJD - PRNP PRNP 1 1 XY Liu
00005431 Shi Q et al. (2014) Chinese - CJD - PRNP PRNP 1 1 XY Liu
00005432 Komatsu J et al. (2014) - - CJD - PRNP PRNP 1 1 XY Liu
00005433 Lim JG et al. (2015) - - CJD - PRNP PRNP 1 1 XY Liu
00005434 Amano Y et al. (2015) - - CJD - PRNP PRNP 1 1 XY Liu
00005435 Kon T et al. (2015) - - CJD - PRNP PRNP 1 1 XY Liu
00005436 Koh K et al. (2015) - - CJD - PRNP PRNP 2 1 XY Liu
00005437 Imbriani P et al. (2016) - - CJD - PRNP PRNP 1 1 XY Liu
00005438 Cohen OS et al. (2016) - - CJD - PRNP PRNP 1 1 XY Liu
00005439 Shi Q et al. (2016) Chinese - CJD - PRNP PRNP 1 1 XY Liu
00005440 Lee SM et al. (2016) - - CJD - PRNP PRNP 1 1 XY Liu
00005441 Cistaro A et al. (2017) - - CJD - PRNP PRNP 1 1 XY Liu
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