Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | | epilepsy | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17576681 more ... | 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:26467025 and PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | idiopathic generalized epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy | ClinVar | PMID:28492532 | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | PMID:23086778 more ... | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | PMID:16199547 more ... | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | PMID:17576681 more ... | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | PMID:25741868 | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | PMID:22424600 more ... | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | PMID:22424600 more ... | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | PMID:22424600 more ... | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | PMID:28492532 | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | PMID:28492532 | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | PMID:28492532 | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | PMID:28492532 | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | PMID:26467025 and PMID:28492532 | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | PMID:25565929 and PMID:28492532 | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | PMID:17576681 more ... | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | PMID:16411202 more ... | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | PMID:25741868 and PMID:4372200 | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | PMID:25565929 more ... | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | PMID:22424600 more ... | Kohlschutter-Tonz syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome | ClinVar | PMID:16199547 more ... | Rubinstein-Taybi syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar | PMID:12114483 more ... | Rubinstein-Taybi syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar | PMID:18688873 more ... | short-rib thoracic dysplasia 9 with or without polydactyly | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar | PMID:28492532 | |