Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Ehlers-Danlos syndrome | | ISO | ADAMTS2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome | ClinVar | PMID:22863189 more ... | Ehlers-Danlos syndrome dermatosparaxis type | | ISO | ADAMTS2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome and dermatosparaxis type | ClinVar | PMID:10417273 more ... | frontotemporal dementia and/or amyotrophic lateral sclerosis-1 | | ISO | ADAMTS2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | ClinVar | PMID:26925868 and PMID:28492532 | genetic disease | | ISO | ADAMTS2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | Sotos syndrome | | ISO | ADAMTS2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sotos syndrome | ClinVar | PMID:16770806 more ... | |