Disease Term Disease ID Gene Symbol References
Spinal Muscular Atrophy, Distal, X-Linked 3 C1845359 ATP7A 23035047, 20170900, 15372525
PGK1
Infantile-onset X-linked spinal muscular atrophy 1145 UBA1
X-linked distal spinal muscular atrophy type 3 139557 ATP7A