Triglyceride storage disease with ichthyosis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Triglyceride storage disease with ichthyosis | C0268238 | ABHD5 | Causal Pathogenic evidence from ClinVar | 6181472, 11590543, 16679289, 17495960, 18606822, 27604308 | ClinVar |
| ANO10 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |