| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ichthyosis Congenital, CIE associated (ALOXE3) | White ichthyotic scales | Autosomal Recessive | 17p13 | Nonsense | ALOXE3 | 418C>T | Arg140* | Premature Termination | 0/Ullah et al., 2015 |
| Ichthyosis Congenital, CIE associated (ALOXE3) | White ichthyotic scales | Autosomal Recessive | 17p13 | Gross Deletion | ALOXE3 | 5299 bp deletion | Complex rearrangement | 0/Ullah et al., 2015 | |
| Nonbullous Congenital Ichthyosiform Erythroderma(ALOXE3) | skin scaling,white scales | Autosomal Recessive | 17p13.1 | Nonsense Mutation | ALOXE3 | 2026C>T | Q676X | Nonesense Mutation and PTC | 0/Rahman SB et.al.,,,2018 |
