Spinal muscular atrophy

Disease Term Disease ID Gene Symbol References
Autosomal dominant adult-onset proximal spinal muscular atrophy 209335 VAPB
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy 363454 BICD2
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy 209341 DYNC1H1
Juvenile Spinal Muscular Atrophy C0152109 DYNC1H1
NAIP 11912351
SMN1 7813012, 10732817, 9837824, 9158159, 8787675, 14715275, 17924536, 11826188
SMN2 9837824, 19716110, 9158159
Muscular atrophy, spinal, infantile chronic form C2931358 DYNC1H1
NAIP 11912351
SMN1 17924536
SMN2
Muscular Atrophy, Spinal, Type II C0393538 DYNC1H1
NAIP 11912351
SMN1 11826188, 9837824, 9158159, 8787675, 17924536, 10732802, 14715275, 24498607, 7813012, 21088113
SMN2 24498607
Spinal Muscular Atrophies of Childhood C0700595 DYNC1H1
SMN1 17924536
SMN2
Spinal Muscular Atrophy C0026847 ASAH1
ATP7A
DYNC1H1
DNAJB2
IGHMBP2
SMN1 21350916, 15862279, 20442745, 27111068, 10679938, 19150990, 11839954, 18155522, 19050931, 21819082, 26606804, 18572081
SMN2 11839954, 18572081, 21350916, 26606804, 19050931, 20442745, 18155522, 10679938
TBCE
TK2
UBA1
VRK1
DYSF
CNTNAP1
VAPB
TRIP4
SIGMAR1
EXOSC8
BICD2
ASCC1 28749478
KCNK9
ATAD3A 27640307
PLEKHG5
TRPV4 22187434
FBXO38
CHCHD10
Spinal muscular atrophy 4 C2931844 SMN1
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant C1834690 DYNC1H1 28193117, 26392352, 22459677, 22847149, 25512093, 28554554, 23603762, 25484024, 26846447
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 C1970211 PLEKHG5 17564964, 23777631
Spinal muscular atrophy, Jerash type C1854023 HSPB1 15122254
HSPB3 20142617
SIGMAR1 26078401, 27629094
HSPB8 15122253
FBXO38 24207122
SPINAL MUSCULAR ATROPHY, JOKELA TYPE C3554398 CHCHD10 25428574, 28585542, 25261972, 25193783, 29789341, 25113787, 29121267, 29315381, 26152333, 25681414, 25833818
SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE C1854058 VAPB 15372378, 24212516
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT C4749003 BICD2 30054298, 28635954, 27751653
SPINAL MUSCULAR ATROPHY, TYPE IV C1838230 SMN1 21542063, 11826188, 7813012, 8787675
SMN2 21542063