Kowarski syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Kowarski syndrome | C1849779 | GH1 | Causal Pathogenic evidence from ClinVar | 8552145, 9276733, 15713716, 17519310 | ClinVar |
| CSHL1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| Short stature due to growth hormone qualitative anomaly | 629 | GH1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |