Alpha-n-acetylgalactosaminidase deficiency

Disease Term Disease ID Gene Symbol Classification References Source
Alpha-N-acetylgalactosaminidase deficiency type 1 79279 NAGA Causal Pathogenic evidence from ClinVar - ClinVar
Alpha-N-acetylgalactosaminidase deficiency type 2 79280 NAGA Causal Pathogenic evidence from ClinVar - ClinVar
Alpha-N-acetylgalactosaminidase deficiency type 3 79281 NAGA Causal Pathogenic evidence from ClinVar - ClinVar
Schindler Disease, Type I C1836544 NAGA Causal Pathogenic evidence from ClinVar 1131374, 2243144, 7707696, 8040340, 8071745, 8782044, 11251574, 11313741, 19683538, 27604308 ClinVar
Schindler Disease, Type II C1836522 NAGA Causal Pathogenic evidence from ClinVar 2243144, 8040340, 8071745, 11251574, 15136691, 19683538, 27604308 ClinVar
Schindler Disease, Type III C1836545 NAGA Causal Pathogenic evidence from ClinVar 2243144, 19683538 ClinVar