Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal dominant dystrophic epidermolysis bullosa | | ISO | KRT14 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cockayne-Touraine type epidermolysis bullosa | ClinVar | PMID:25741868 and PMID:28492532 | dermatopathia pigmentosa reticularis | | ISO | KRT14 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dermatopathia pigmentosa reticularis | ClinVar | PMID:10730767 more ... | epidermolysis bullosa simplex | | ISO | KRT14 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10583131 more ... | epidermolysis bullosa simplex Dowling-Meara type | | ISO | KRT14 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epidermolysis bullosa simplex Dowling-Meara type | ClinVar | PMID:10583131 more ... | epidermolysis bullosa simplex generalized type | | ISO | KRT14 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10583131 more ... | epidermolysis bullosa simplex localized type | | ISO | KRT14 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Localized epidermolysis bullosa simplex | ClinVar | PMID:25741868 and PMID:28492532 | Generalized Epidermolysis Bullosa Simplex 1B | | ISO | KRT14 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epidermolysis bullosa simplex and Koebner type | ClinVar | PMID:10583131 more ... | Generalized Epidermolysis Bullosa Simplex 1D | | ISO | KRT14 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1D more ... | ClinVar | PMID:10971341 more ... | Generalized Severe Epidermolysis Bullosa Simplex 1A | | ISO | KRT14 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A and generalized severe | ClinVar | PMID:10583131 more ... | genetic disease | | ISO | KRT14 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | Localized Epidermolysis Bullosa Simplex 1C | | ISO | KRT14 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1C and localized | ClinVar | PMID:11710919 more ... | Naegeli-Franceschetti-Jadassohn syndrome | | ISO | KRT14 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:13141721 more ... | Sjogren-Larsson syndrome | | ISO | KRT14 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ichthyosis more ... | ClinVar | PMID:10971341 more ... | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
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