Disease Term Disease ID Gene Symbol References
Mucolipidoses C0026697 NEU1 11702224, 14695530, 27604308
MCOLN1 19815695, 10973263, 23555759, 21613607, 16645217, 11845410, 20864526
GNPTAB 24798265, 23773965, 16465621, 19634183, 23227064, 21549105, 19617216
GNPTG
Type I Mucolipidosis C0268226 CYP21A2 16712870, 24808020, 10767332
NEU1 14517945, 27604308, 16712870, 24808020, 10767332, 14695530
MCOLN1 20864526, 21613607
Type II Mucolipidosis C0020725 MCOLN1 21613607, 20864526
GNPTAB 15305357, 16630736, 27604308, 18425436
Mucolipidosis Type IV C0238286, 578 MCOLN1 22268962, 10973263, 14749347, 24357685, 11030752, 27604308, 17239335, 21256127, 12182165, 21763169, 21613607, 16645217, 20864526, 19815695, 28112729, 17384215, 11013137, 16287144, 15523648, 29449188, 21224396, 11317355, 16978393, 26597493, 25525159, 25119295, 15178326, 18794901, 18326692, 11845410
Mucolipidosis III Alpha Beta, Atypical C2673375 GNPTAB 18425436
MUCOLIPIDOSIS II ALPHA/BETA (disorder) C2673377 GNPTAB 24045841, 19938078, 24798265, 23227064, 19634183, 22495880, 24550498, 15305357, 24891900, 19617216, 16465621, 25788519, 20886637, 23733939, 20880125, 23773965, 25505245, 25525159, 24060719, 27604308, 24375680, 21228398, 16200072, 27710913, 19197337, 21416587, 18190596, 25107912, 16630736, 25473036, 28095893, 27662472, 28396763, 16116615, 25606425, 19659762, 28918368, 27180337, 16835905, 23566849, 23192343
GNPTG
Mucolipidosis 2 C2931894 GNPTAB 18425436
Mucolipidosis III Gamma C1854896 GNPTG 23430803, 10712439, 24316125, 15060128, 20034096, 26935170, 27896079, 27243974, 26108976, 19370764, 19708128, 27604308, 25182519, 27038293, 15532026, 19659762
Mucolipidosis type II 576 GNPTAB
Mucolipidosis type III alpha/beta 423461 GNPTAB
Mucolipidosis type III gamma 423470 GNPTG