Disease #00036 (SCA (Spinocerebellar Degenerations), OMIM:164400)

Official abbreviation SCA
Name Spinocerebellar Degenerations
OMIM ID 164400
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 53
Phenotype entries for this disease -
Associated with 13 genes AFG3L2, C10orf2, CACNA1A, CACNA1G, ELOVL4, ELOVL5, ITPR1, KCNC3, KCND3, SPTBN2, TGM6, TMEM240, TTBK2
Associated tissues -
Disease features -
Remarks -


Individuals

53 entries on 1 page. Showing entries 1 - 53.
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Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

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Owner     
00004379 Nikali K1, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, L?nnqvist T, Peltonen L.(2005) - - SCA - C10orf2 C10orf2 1 1 Y Yang
00004380 Nikali K1, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, L?nnqvist T, Peltonen L.(2005) - - SCA - C10orf2 C10orf2 1 1 Y Yang
00004381 Houlden H1, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW.(2007) - - SCA - TTBK2 TTBK2 1 1 Y Yang
00004382 Yue Q1, Jen JC, Nelson SF, Baloh RW.(1997) - - SCA - CACNA1A CACNA1A 1 1 Y Yang
00004383 Battistini S1, Stenirri S, Piatti M, Gelfi C, Righetti PG, Rocchi R, Giannini F, Battistini N, Guazzi GC, Ferrari M, Carrera P.(1999) - - SCA - CACNA1A CACNA1A 1 1 Y Yang
00004384 Dündar H1, Ozgül RK, Yaln?zo?lu D, Erdem S, O?uz KK, Tuncel D, Temu?in CM, Dursun A.(2012) - - SCA - C10orf2 C10orf2 1 1 Y Yang
00004385 Hartley JN1, Booth FA, Del Bigio MR, Mhanni AA.(2012) - - SCA - C10orf2 C10orf2 1 1 Y Yang
00004386 Bürk K1, Kaiser FJ2, Tennstedt S3, Sch?ls L4, Kreuz FR5, Wieland T6, Strom TM7, Büttner T8, Hollstein R2, Braunholz D2, Plaschke J5, Gillessen-Kaesbach G2, Zühlke C9.(2014) - - SCA - CACNA1A CACNA1A 1 1 Y Yang
00004387 Bürk K1, Kaiser FJ2, Tennstedt S3, Sch?ls L4, Kreuz FR5, Wieland T6, Strom TM7, Büttner T8, Hollstein R2, Braunholz D2, Plaschke J5, Gillessen-Kaesbach G2, Zühlke C9.(2014) - - SCA - CACNA1A CACNA1A 1 1 Y Yang
00004388 Bürk K1, Kaiser FJ2, Tennstedt S3, Sch?ls L4, Kreuz FR5, Wieland T6, Strom TM7, Büttner T8, Hollstein R2, Braunholz D2, Plaschke J5, Gillessen-Kaesbach G2, Zühlke C9.(2014) - - SCA - CACNA1A CACNA1A 1 1 Y Yang
00004389 Park MH1, Woo HM, Hong YB, Park JH, Yoon BR, Park JM, Yoo JH, Koo H, Chae JH, Chung KW, Choi BO, Koo SK.(2014) - - SCA - C10orf2 C10orf2 1 1 Y Yang
00004390 Park MH1, Woo HM, Hong YB, Park JH, Yoon BR, Park JM, Yoo JH, Koo H, Chae JH, Chung KW, Choi BO, Koo SK.(2014) - - SCA - C10orf2 C10orf2 1 1 Y Yang
00005866 Clarkson YL et al. (2010) - - SCA - SPTBN2 SPTBN2 1 1 XY Liu
00005867 Figueroa KP et al. (2011) - - SCA - KCNC3 KCNC3 1 1 XY Liu
00005868 Minassian NA et al. (2012) - - SCA - KCNC3 KCNC3 1 1 XY Liu
00005869 Minassian NA et al. (2012) - - SCA - KCNC3 KCNC3 1 1 XY Liu
00005870 Minassian NA et al. (2012) - - SCA - KCNC3 KCNC3 1 1 XY Liu
00005871 Li M et al. (2013) Chinese - SCA - TGM6 TGM6 1 1 XY Liu
00005872 Cho E et al. (2013) - - SCA - SPTBN2 SPTBN2 1 1 XY Liu
00005873 Jacob FD et al. (2013) - - SCA - SPTBN2 SPTBN2 1 1 XY Liu
00005874 Hartley JN et al. (2012) - - SCA - C10orf2 C10orf2 1 1 XY Liu
00005875 Hartley JN et al. (2012) - - SCA - C10orf2 C10orf2 1 1 XY Liu
00005876 Huang L et al. (2012) - - SCA - ITPR1 ITPR1 1 1 XY Liu
00005877 Lee YC et al. (2012) - - SCA - KCND3 KCND3 1 1 XY Liu
00005878 Lee YC et al. (2012) - - SCA - KCND3 KCND3 1 1 XY Liu
00005879 Lee YC et al. (2012) - - SCA - KCND3 KCND3 1 1 XY Liu
00005880 Lee YC et al. (2012) - - SCA - KCND3 KCND3 1 1 XY Liu
00005881 Duarri A et al. (2012) - - SCA - KCND3 KCND3 1 1 XY Liu
00005882 Duarri A et al. (2012) - - SCA - KCND3 KCND3 1 1 XY Liu
00005883 Duarri A et al. (2013) - - SCA - KCND3 KCND3 1 1 XY Liu
00005884 Irie T et al. (2014) - - SCA - KCNC3 KCNC3 1 1 XY Liu
00005885 Löbbe AM et al. (2014) - - SCA - AFG3L2 AFG3L2 1 1 XY Liu
00005886 Cadieux-Dion M et al. (2014) - - SCA - ELOVL4 ELOVL4 1 1 XY Liu
00005887 Di Gregorio E et al. (2014) - - SCA - ELOVL5 ELOVL5 1 1 XY Liu
00005888 Di Gregorio E et al. (2014) - - SCA - ELOVL5 ELOVL5 1 1 XY Liu
00005889 Delplanque J et al. (2014) - - SCA - TMEM240 TMEM240 1 1 XY Liu
00005890 Delplanque J et al. (2014) - - SCA - TMEM240 TMEM240 1 1 XY Liu
00005891 Delplanque J et al. (2014) - - SCA - TMEM240 TMEM240 1 1 XY Liu
00005892 Delplanque J et al. (2014) - - SCA - TMEM240 TMEM240 1 1 XY Liu
00005893 Delplanque J et al. (2014) - - SCA - TMEM240 TMEM240 1 1 XY Liu
00005894 Delplanque J et al. (2014) - - SCA - TMEM240 TMEM240 1 1 XY Liu
00005895 Guo YC et al. (2014) - - SCA - TGM6 TGM6 1 1 XY Liu
00005896 Guo YC et al. (2014) - - SCA - TGM6 TGM6 1 1 XY Liu
00005897 Guo YC et al. (2014) - - SCA - TGM6 TGM6 1 1 XY Liu
00005898 Ozaki K et al. (2015) - - SCA - ELOVL4 ELOVL4 1 1 XY Liu
00005899 Bourassa CV et al. (2015) - - SCA - ELOVL4 ELOVL4 1 1 XY Liu
00005900 Qu J et al. (2015) - - SCA - AFG3L2 AFG3L2 1 1 XY Liu
00005901 Zühlke C et al. (2015) - - SCA - AFG3L2 AFG3L2 1 1 XY Liu
00005902 Shadrina MI et al. (2016) Russian - SCA - ITPR1 ITPR1 1 1 XY Liu
00005903 Zeng S et al. (2016) - - SCA - TMEM240 TMEM240 1 1 XY Liu
00005904 Borroni B et al. (2016) - - SCA - ELOVL5 ELOVL5 1 1 XY Liu
00005905 Kimura M et al. (2017) - - SCA - CACNA1G CACNA1G 1 1 XY Liu
00005906 Casey JP et al. (2017) - - SCA - ITPR1 ITPR1 1 1 XY Liu
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