Hepatic methionine adenosyltransferase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Hepatic methionine adenosyltransferase deficiency | C0268621 | MAT1A | Causal Pathogenic evidence from ClinVar | 4421454, 7560086, 8770875, 9042912, 9482646, 10677294, 11278456, 11320206, 14476836, 14832292, 15935930, 16435220, 18500573, 20675163, 22951388, 23425511, 23430947, 23973726, 24231718, 24445979, 25638462, 26289392, 26933843, 27604308, 28186605, 28748147 | ClinVar |
| AHCY | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 26974671 | - | ||
| GNMT | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 11596649, 11810299 | - |