Disease #00034 (SMA (Spinal Muscular Atrophy), OMIM:253300)

Official abbreviation SMA
Name Spinal Muscular Atrophy
OMIM ID 253300
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 90
Phenotype entries for this disease -
Associated with 5 genes HEXA, IGHMBP2, LMNA, SMN1, VAPB
Associated tissues -
Disease features -
Remarks -


Individuals

90 entries on 1 page. Showing entries 1 - 90.
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AscendingIndividual ID     
Reference     
Ethnic origin     
Remarks     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00000578 Nishimura AL1, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR, Gillingwater T, Webb J, Skehel P, Zatz M.(2004) - - ALS, SMA - VAPB VAPB 1 1 Y Yang
00004301 Parsons DW1, McAndrew PE, Monani UR, Mendell JR, Burghes AH, Prior TW.(1996) - - SMA - SMN1 SMN1 1 1 Y Yang
00004302 Hahnen E1, Sch?nling J, Rudnik-Sch?neborn S, Raschke H, Zerres K, Wirth B.(1997) - - SMA - SMN1 SMN1 1 1 Y Yang
00004303 Hahnen E1, Sch?nling J, Rudnik-Sch?neborn S, Raschke H, Zerres K, Wirth B.(1997) - - SMA - SMN1 SMN1 1 1 Y Yang
00004304 Lefebvre S1, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al.(1995) - - SMA - SMN1 SMN1 1 1 Y Yang
00004305 Talbot K1, Ponting CP, Theodosiou AM, Rodrigues NR, Surtees R, Mountford R, Davies KE.(1997) - - SMA - SMN1 SMN1 1 1 Y Yang
00004306 Parsons DW1, McAndrew PE, Iannaccone ST, Mendell JR, Burghes AH, Prior TW.(1998) - - SMA - SMN1 SMN1 1 1 Y Yang
00004307 Lorson CL1, Hahnen E, Androphy EJ, Wirth B.(1999) - - SMA - SMN1 SMN1 1 1 Y Yang
00004308 Sossi V1, Giuli A, Vitali T, Tiziano F, Mirabella M, Antonelli A, Neri G, Brahe C.(2001) - - SMA - SMN1 SMN1 1 1 Y Yang
00004309 Sossi V1, Giuli A, Vitali T, Tiziano F, Mirabella M, Antonelli A, Neri G, Brahe C.(2001) - - SMA - SMN1 SMN1 1 1 Y Yang
00004310 Bussaglia E1, Clermont O, Tizzano E, Lefebvre S, Bürglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A, Baiget M, et al.(1995) - - SMA - SMN1 SMN1 1 1 Y Yang
00004311 Sun Y1, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.(2005) - - SMA - SMN1 SMN1 1 1 Y Yang
00004312 Sun Y1, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.(2005) - - SMA - SMN1 SMN1 1 1 Y Yang
00004313 Sun Y1, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.(2005) - - SMA - SMN1 SMN1 1 1 Y Yang
00004314 Sun Y1, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.(2005) - - SMA - SMN1 SMN1 1 1 Y Yang
00004315 Sun Y1, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.(2005) - - SMA - SMN1 SMN1 1 1 Y Yang
00004316 Cuscó I1, Barceló MJ, del Río E, Baiget M, Tizzano EF.(2004) - - SMA - SMN1 SMN1 1 1 Y Yang
00004317 Cuscó I1, Barceló MJ, del Río E, Baiget M, Tizzano EF.(2004) - - SMA - SMN1 SMN1 1 1 Y Yang
00004318 Qu YJ1, Song F, Yang YL, Jin YW, Bai JL.(2011) - - SMA - SMN1 SMN1 1 1 Y Yang
00004319 Navon R1, Khosravi R, Korczyn T, Masson M, Sonnino S, Fardeau M, Eymard B, Lefevre M, Turpin JC, Rondot P, et al.(1995) - - SMA - HEXA HEXA 1 1 Y Yang
00004320 Redys JJ.(1975) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004321 Redys JJ.(1975) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004322 Redys JJ.(1975) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004323 Grohmann K1, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L,(2001) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004324 Grohmann K1, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L,(2001) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004325 Grohmann K1, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L,(2001) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004326 Grohmann K1, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L,(2001) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004327 Guenther UP1, Schuelke M, Bertini E, D'Amico A, Goemans N, Grohmann K, Hübner C, Varon R.(2004) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004328 Wong VC1, Chung BH, Li S, Goh W, Lee SL.(2006) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004329 Maystadt I1, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L.(2004) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004330 Maystadt I1, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L.(2004) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004331 Maystadt I1, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L.(2004) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004332 Maystadt I1, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L.(2004) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004333 Maystadt I1, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L.(2004) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004334 Maystadt I1, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L.(2004) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004335 Maystadt I1, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L.(2004) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004336 Maystadt I1, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L.(2004) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004337 Maystadt I1, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L.(2004) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004338 Guenther UP1, Handoko L, Varon R, Stephani U, Tsao CY, Mendell JR, Lützkendorf S, Hübner C, von Au K, Jablonka S, Dittmar G, Heinemann U, Schuetz A, Schuelke M.(2009) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004339 Eggermann T1, Eggermann K, Elbracht M, Zerres K, Rudnik-Sch?neborn S.(2008) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004340 Pierson TM1, Tart G, Adams D, Toro C, Golas G, Tifft C, Gahl W.(2011) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004341 Pierson TM1, Tart G, Adams D, Toro C, Golas G, Tifft C, Gahl W.(2011) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004342 Lin X1, Zhang QJ1, He J1, Lin MT1, Murong SX1, Wang N2, Chen WJ3.(2013) Chinese - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004343 Lin X1, Zhang QJ1, He J1, Lin MT1, Murong SX1, Wang N2, Chen WJ3.(2013) Chinese - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004344 Lin X1, Zhang QJ1, He J1, Lin MT1, Murong SX1, Wang N2, Chen WJ3.(2013) Chinese - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004345 Lin X1, Zhang QJ1, He J1, Lin MT1, Murong SX1, Wang N2, Chen WJ3.(2013) Chinese - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004346 Lin X1, Zhang QJ1, He J1, Lin MT1, Murong SX1, Wang N2, Chen WJ3.(2013) Chinese - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004347 Lin X1, Zhang QJ1, He J1, Lin MT1, Murong SX1, Wang N2, Chen WJ3.(2013) Chinese - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004348 Litvinenko I1, Kirov AV2, Georgieva R3, Todorov T4, Malinova Z3, Mitev V5, Todorova A6.(2014) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004349 Litvinenko I1, Kirov AV2, Georgieva R3, Todorov T4, Malinova Z3, Mitev V5, Todorova A6.(2014) - - SMA - IGHMBP2 IGHMBP2 1 1 Y Yang
00004350 Cuscó I1, López E, Soler-Botija C, Jesús Barceló M, Baiget M, Tizzano EF.(2003) - - SMA - SMN1 SMN1 1 1 Y Yang
00004351 Rudnik-Sch?neborn S1, Botzenhart E, Eggermann T, Senderek J, Schoser BG, Schr?der R, Wehnert M, Wirth B, Zerres K.(2007) - - SMA - LMNA LMNA 1 1 Y Yang
00004352 Rudnik-Sch?neborn S1, Botzenhart E, Eggermann T, Senderek J, Schoser BG, Schr?der R, Wehnert M, Wirth B, Zerres K.(2007) - - SMA - LMNA LMNA 1 1 Y Yang
00004354 Zeng J1, Lin Y, Yan A, Ke L, Zhu Z, Lan F.(2011) - - SMA - SMN1 SMN1 1 1 Y Yang
00004355 Zeng J1, Lin Y, Yan A, Ke L, Zhu Z, Lan F.(2011) - - SMA - SMN1 SMN1 1 1 Y Yang
00004356 Zeng J1, Lin Y, Yan A, Ke L, Zhu Z, Lan F.(2011) - - SMA - SMN1 SMN1 1 1 Y Yang
00004357 Yu-Jin Q1, Juan D, Er-zhen L, Jin-li B, Yu-wei J, Hong W, Fang S.(2012) Chinese - SMA - SMN1 SMN1 1 1 Y Yang
00004358 Yu-Jin Q1, Juan D, Er-zhen L, Jin-li B, Yu-wei J, Hong W, Fang S.(2012) Chinese - SMA - SMN1 SMN1 1 1 Y Yang
00004359 Yu-Jin Q1, Juan D, Er-zhen L, Jin-li B, Yu-wei J, Hong W, Fang S.(2012) Chinese - SMA - SMN1 SMN1 1 1 Y Yang
00004360 Yu-Jin Q1, Juan D, Er-zhen L, Jin-li B, Yu-wei J, Hong W, Fang S.(2012) Chinese - SMA - SMN1 SMN1 1 1 Y Yang
00004361 Yu-Jin Q1, Juan D, Er-zhen L, Jin-li B, Yu-wei J, Hong W, Fang S.(2012) Chinese - SMA - SMN1 SMN1 1 1 Y Yang
00004362 Yamamoto T1, Sato H2, Lai PS3, Nurputra DK2, Harahap NI2, Morikawa S1, Nishimura N1, Kurashige T4, Ohshita T4, Nakajima H5, Yamada H6, Nishida Y6,(2014) - - SMA - SMN1 SMN1 1 1 Y Yang
00004363 Yamamoto T1, Sato H2, Lai PS3, Nurputra DK2, Harahap NI2, Morikawa S1, Nishimura N1, Kurashige T4, Ohshita T4, Nakajima H5, Yamada H6, Nishida Y6,(2014) - - SMA - SMN1 SMN1 1 1 Y Yang
00004364 Yamamoto T1, Sato H2, Lai PS3, Nurputra DK2, Harahap NI2, Morikawa S1, Nishimura N1, Kurashige T4, Ohshita T4, Nakajima H5, Yamada H6, Nishida Y6,(2014) - - SMA - SMN1 SMN1 1 1 Y Yang
00004365 Kirwin SM1, Vinette KM1, Gonzalez IL1, Abdulwahed HA2, Al-Sannaa N2, Funanage VL1.(2013) - - SMA - SMN1 SMN1 1 1 Y Yang
00004366 Kirwin SM1, Vinette KM1, Gonzalez IL1, Abdulwahed HA2, Al-Sannaa N2, Funanage VL1.(2013) - - SMA - SMN1 SMN1 1 1 Y Yang
00004367 J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) - - SMA - SMN1 SMN1 1 1 Y Yang
00004368 J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) - - SMA - SMN1 SMN1 1 1 Y Yang
00004369 J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) - - SMA - SMN1 SMN1 1 1 Y Yang
00004370 J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) - - SMA - SMN1 SMN1 1 1 Y Yang
00004371 J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) - - SMA - SMN1 SMN1 1 1 Y Yang
00004372 J?drzejowska M1, Gos M2, Zimowski JG3, Kostera-Pruszczyk A4, Ryniewicz B4, Hausmanowa-Petrusewicz I5.(2014) - - SMA - SMN1 SMN1 1 1 Y Yang
00004373 Ganji H1, Nouri N, Salehi M, Aryani O, Houshmand M, Basiri K, Fazel-Najafabadi E, Sedghi M.(2014) - - SMA - SMN1 SMN1 1 1 Y Yang
00004374 Ganji H1, Nouri N, Salehi M, Aryani O, Houshmand M, Basiri K, Fazel-Najafabadi E, Sedghi M.(2014) - - SMA - SMN1 SMN1 1 1 Y Yang
00004375 Ganji H1, Nouri N, Salehi M, Aryani O, Houshmand M, Basiri K, Fazel-Najafabadi E, Sedghi M.(2014) - - SMA - SMN1 SMN1 1 1 Y Yang
00004376 Liu WL1, Li F, He ZX, Ai R, Ma HW.(2013) China - SMA - SMN1 SMN1 1 1 Y Yang
00004377 DU J1, Qu YJ, Xiong H, Li EZ, Jin YW, Bai JL, Wang H, Song F.(2011) - - SMA - SMN1 SMN1 1 1 Y Yang
00004378 DU J1, Qu YJ, Xiong H, Li EZ, Jin YW, Bai JL, Wang H, Song F.(2011) - - SMA - SMN1 SMN1 1 1 Y Yang
00004749 Navon R1, Khosravi R, Korczyn T, Masson M, Sonnino S, Fardeau M, Eymard B, Lefevre M, Turpin JC, Rondot P, et al.(1995) - - SMA - HEXA HEXA 1 1 Y Yang
00005853 Bai JL et al. (2014) Chinese - SMA - SMN1 SMN1 1 1 XY Liu
00005854 Bai JL et al. (2014) Chinese - SMA - SMN1 SMN1 1 1 XY Liu
00005855 Bai JL et al. (2014) Chinese - SMA - SMN1 SMN1 1 1 XY Liu
00005856 Bai JL et al. (2014) Chinese - SMA - SMN1 SMN1 1 1 XY Liu
00005857 Bai JL et al. (2014) Chinese - SMA - SMN1 SMN1 1 1 XY Liu
00005858 Bai JL et al. (2014) Chinese - SMA - SMN1 SMN1 1 1 XY Liu
00005859 Qu YJ et al. (2016) - - SMA - SMN1 SMN1 1 1 XY Liu
00005860 Giannopoulou EZ et al. (2015) - - SMA - SMN1 SMN1 1 1 XY Liu
00005863 Rudnik-Schöneborn S et al.(2016) - - SMA - SMN1 SMN1 1 1 XY Liu
00005864 Takarada T et al. (2017) - - SMA - SMN1 SMN1 1 1 XY Liu
00005865 Takarada T et al. (2017) - - SMA - SMN1 SMN1 1 1 XY Liu
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