Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal dominant dyskeratosis congenita 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita and autosomal dominant 1 | ClinVar | PMID:18669893 more ... | autosomal dominant dyskeratosis congenita 3 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita and autosomal dominant 3 | ClinVar | PMID:18669893 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar | PMID:11348475 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar | | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar | PMID:12542526 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar | PMID:12535215 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar | PMID:16968736 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar | PMID:10694685 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar | PMID:11407995 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar | PMID:25741868 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar | PMID:10482949 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar | PMID:19241467 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar | PMID:19241467 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar | PMID:10914678 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar | PMID:19241467 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar | PMID:25741868 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar | PMID:16968736 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar | PMID:10914678 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis | ClinVar | PMID:11407995 more ... | autosomal recessive congenital ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar | PMID:25741868 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:11348475 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:19241467 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:25741868 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:27025581 and PMID:28492532 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:16133457 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:16199547 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:11511296 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:11298529 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:11064247 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis and type 1 | ClinVar | PMID:16908342 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:25154629 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:11298529 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:21668430 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:25741868 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:12542526 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:19500103 and PMID:25741868 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:10914678 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:16968736 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:19241467 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:10886517 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:19241467 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:12535215 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:25741868 and PMID:9261103 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:16968736 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:16968736 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:16968736 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:28492532 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:10694685 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis and type 1 | ClinVar | PMID:10232404 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:11407995 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:17635512 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:25741868 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:19156839 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:22801880 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:16199547 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:10914678 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:16199547 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:10914678 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis and type 1 | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:11298529 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis and type 1 | ClinVar | PMID:11298529 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:19241467 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:16199547 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:19241467 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:18669893 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:25741868 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:10482949 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:19241467 and PMID:25741868 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:22311480 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:11298529 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:19241467 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:27025581 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:23096117 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:16968736 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis and type 1 | ClinVar | PMID:19241467 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis and type 1 | ClinVar | PMID:10914678 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:25741868 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:17576681 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:16968736 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:25741868 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:24824130 and PMID:25741868 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:16968736 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:11298529 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:10914678 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:25766764 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis and type 1 | ClinVar | PMID:19262603 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:11298529 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:11298529 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:22511925 and PMID:28492532 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lamellar ichthyosis and type 1 | ClinVar | PMID:11348475 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:10232404 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:24419105 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:25998749 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:23096117 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:23278109 and PMID:9359043 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:19241467 and PMID:25525159 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:10694685 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:9545389 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:11407995 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:11251583 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:11407995 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:7824952 | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:18948357 more ... | autosomal recessive congenital ichthyosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 1 | ClinVar | PMID:16968736 and PMID:19212342 | Brain-Lung-Thyroid Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar | PMID:25741868 | dyskeratosis congenita | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita | ClinVar | PMID:18669893 more ... | dyskeratosis congenita | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | ichthyosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ichthyosis | ClinVar | PMID:24824130 and PMID:25741868 | lysinuric protein intolerance | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lysinuric protein intolerance | ClinVar | PMID:28492532 | Revesz syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Revesz syndrome | ClinVar | PMID:18669893 more ... | Specific Granule Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Specific granule deficiency | ClinVar | PMID:28492532 | |
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Analyze GeneStrainQTL List |
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
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Imported Human Phenotype Annotations - HPO
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Disease Annotations
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Cellular Component
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Molecular Function
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Phenotype Annotations
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Human Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 2. | Mutations of keratinocyte transglutaminase in lamellar ichthyosis. | Huber M, etal., Science. 1995 Jan 27;267(5197):525-8. |
| 3. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 6. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
Additional References at PubMed
| PMID:1346394 | PMID:1348508 | PMID:1350092 | PMID:1351505 | PMID:1381356 | PMID:1670769 | PMID:1673840 | PMID:1704039 | PMID:1979171 | PMID:7592852 | PMID:7688299 | PMID:7773290 |
| PMID:7906657 | PMID:7961731 | PMID:8824274 | PMID:9326318 | PMID:9346937 | PMID:9359043 | PMID:9384573 | PMID:9446578 | PMID:9516464 | PMID:9523691 | PMID:9722562 | PMID:9863908 |
| PMID:9887377 | PMID:10066784 | PMID:10196183 | PMID:10405818 | PMID:10510474 | PMID:10914678 | PMID:11251583 | PMID:11298529 | PMID:11390390 | PMID:11511296 | PMID:12054678 | PMID:12100179 |
| PMID:12397374 | PMID:12477932 | PMID:12542526 | PMID:12654631 | PMID:12721789 | PMID:12928434 | PMID:14645372 | PMID:15304086 | PMID:15313180 | PMID:15489334 | PMID:15665393 | PMID:15715085 |
| PMID:15805105 | PMID:15846304 | PMID:16133457 | PMID:16344560 | PMID:16530159 | PMID:16604191 | PMID:17024410 | PMID:17672918 | PMID:17762854 | PMID:17762858 | PMID:18397883 | PMID:18673368 |
| PMID:18676680 | PMID:18948357 | PMID:19170196 | PMID:19197536 | PMID:19199708 | PMID:19241467 | PMID:19343046 | PMID:19386600 | PMID:19464759 | PMID:19486042 | PMID:19516268 | PMID:19556108 |
| PMID:19625176 | PMID:19646949 | PMID:19651786 | PMID:19692168 | PMID:19863506 | PMID:19890349 | PMID:20080707 | PMID:20167857 | PMID:20301593 | PMID:20360068 | PMID:20663883 | PMID:21248772 |
| PMID:21282207 | PMID:21789544 | PMID:21873635 | PMID:22009441 | PMID:22080209 | PMID:22220473 | PMID:22311480 | PMID:22435431 | PMID:22511925 | PMID:22622417 | PMID:22801880 | PMID:22972431 |
| PMID:23096117 | PMID:23189155 | PMID:23192619 | PMID:23278109 | PMID:23290633 | PMID:23621129 | PMID:23689228 | PMID:23895935 | PMID:24112124 | PMID:24261627 | PMID:24314425 | PMID:24457600 |
| PMID:24885370 | PMID:25154629 | PMID:25180191 | PMID:25609649 | PMID:25754682 | PMID:25814554 | PMID:25921289 | PMID:25963833 | PMID:26186194 | PMID:26220141 | PMID:26578203 | PMID:26990434 |
| PMID:27061915 | PMID:27416753 | PMID:27423780 | PMID:27442430 | PMID:27591049 | PMID:27649154 | PMID:27660242 | PMID:28236338 | PMID:28403434 | PMID:28514442 | PMID:28986522 | PMID:29117863 |
| PMID:29467282 | PMID:29563501 | PMID:29884807 | PMID:30213231 | PMID:30372788 | PMID:30639242 | PMID:30801672 | PMID:31059266 | PMID:31073126 | PMID:31180492 | PMID:31324722 | PMID:31409639 |
| PMID:32296183 | PMID:32436339 | PMID:32597326 | PMID:32687490 | PMID:32707033 | PMID:32814053 | PMID:32941674 | PMID:32989256 | PMID:33961781 | PMID:34445801 | PMID:34857952 | PMID:34911754 |
| PMID:35013218 | PMID:35338135 | PMID:35474131 | PMID:35831895 | PMID:35944360 | PMID:36095012 | PMID:36114006 | PMID:36168627 | PMID:36361742 | PMID:36574265 | PMID:36676727 | PMID:36789964 |
| PMID:36898370 | PMID:37120454 | PMID:37542530 | PMID:37689310 | PMID:38057394 | PMID:38060040 | PMID:38113892 | PMID:38233982 | PMID:38472489 |
Genomics
Comparative Map Data
| TGM1 (Homo sapiens - human) |
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| Tgm1 (Mus musculus - house mouse) |
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| Tgm1 (Rattus norvegicus - Norway rat) |
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| TGM1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| TGM1 (Canis lupus familiaris - dog) |
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| Tgm1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| TGM1 (Sus scrofa - pig) |
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| TGM1 (Chlorocebus sabaeus - green monkey) |
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| Tgm1 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in TGM1
868 total Variants 
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