Neu-laxova syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Neu-Laxova syndrome | 2671, C0265218 | PHGDH | Causal Pathogenic evidence from ClinVar | 24836451 | ClinVar |
| PSAT1 | Causal Pathogenic evidence from ClinVar | 25152457 | ClinVar | ||
| NEU-LAXOVA SYNDROME 1 | C4551478 | PHGDH | Causal Pathogenic evidence from ClinVar | 11034457, 11494295, 19235232, 24836451, 25152457 | ClinVar |
| PSAT1 | Causal Pathogenic evidence from ClinVar | 17436247 | ClinVar | ||
| PSPH | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 25152457 | - | ||
| NEU-LAXOVA SYNDROME 2 | C4015019 | PSAT1 | Causal Pathogenic evidence from ClinVar | 17436247, 25152457, 27475004 | ClinVar |