Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Annular Epidermolytic Ichthyosis | | ISO | KRT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Annular epidermolytic ichthyosis | ClinVar | PMID:10053007 more ... | Annular Epidermolytic Ichthyosis 2 | | ISO | KRT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ichthyosis more ... | ClinVar | PMID:10053007 more ... | bullous congenital ichthyosiform erythroderma | | ISO | KRT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital bullous ichthyosiform erythroderma | ClinVar | PMID:12406348 more ... | epidermolytic hyperkeratosis | | ISO | KRT1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12406348 more ... | epidermolytic hyperkeratosis 1 | | ISO | KRT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epidermolytic hyperkeratosis 1 | ClinVar | PMID:25741868 and PMID:30288772 | Epidermolytic Palmoplantar Keratoderma 2 | | ISO | KRT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Palmoplantar keratoderma more ... | ClinVar | PMID:11286630 more ... | genetic disease | | ISO | KRT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | ichthyosis | | ISO | KRT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ichthyosis | ClinVar | PMID:25741868 | Ichthyosis Hystrix, Curth Macklin Type | | ISO | KRT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ichthyosis hystrix and Curth Macklin type | ClinVar | PMID:16417221 more ... | keratosis palmoplantaris striata 3 | | ISO | KRT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Keratosis palmoplantaris striata 3 | ClinVar | | nonepidermolytic palmoplantar keratoderma | | ISO | KRT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Diffuse nonepidermolytic palmoplantar keratoderma | ClinVar | PMID:19470048 more ... | prostate cancer | | ISO | KRT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar | PMID:23265383 | Reticular Erythrokeratoderma | | ISO | KRT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital reticular ichthyosiform erythroderma | ClinVar | PMID:25774499 | |