Heimler syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| HEIMLER SYNDROME 1 | C4551980 | PEX1 | Causal Pathogenic evidence from ClinVar | 9398847, 10447258, 12402331, 16088892, 19105186, 20952722, 25412400, 25525159, 26219880, 26287655, 26387595, 26643206, 27090541, 27302843, 27633571, 27872819, 27882258, 28468868 | ClinVar |
| HEIMLER SYNDROME 2 | C4225267 | PEX6 | Causal Pathogenic evidence from ClinVar | 11873320, 16530715, 19105186, 19142205, 19877282, 21031596, 25079577, 26387595, 27302843 | ClinVar |