Ngly1 deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| NGLY1 deficiency | C3808991 | NGLY1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 22581936, 24651605, 25220016, 25605922, 25707956, 25900930, 26350515, 26795593, 27388694, 28330790 | - |
| PGM1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 27206562, 27604308 | - |