Disease Term Disease ID Gene Symbol References
Infantile Neuroaxonal Dystrophy C0270724, 35069 NAGA 2243144
PLA2G6 24108619, 23749988, 27268037, 20669327, 18799783, 26668131, 20886109, 25164370, 16783378, 17033970, 20584031, 25326637, 29903433, 18570303, 22934738, 19893029, 19138334, 20947703, 24745848, 28821231, 26196026, 20619503, 27378808, 30772976, 18359254
TECPR2 26555167
Neuroaxonal Dystrophies C0338473 NAGA 2243144
TECPR2 26555167
Adult Neuroaxonal Dystrophy C0751716 NAGA 2243144
TECPR2 26555167
Juvenile Neuroaxonal Dystrophy C0751717 NAGA 2243144
TECPR2 26555167
Late Infantile Neuroaxonal Dystrophy C0751718 NAGA 2243144
TECPR2 26555167