Mucolipidosis

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