Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Gart | Chinchilla | amyotrophic lateral sclerosis type 1 | | ISO | GART (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar | PMID:17237124 more ... | Gart | Chinchilla | autosomal dominant intellectual developmental disorder 7 | | ISO | GART (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome | ClinVar | PMID:17237124 more ... | Gart | Chinchilla | Familial Platelet Disorder with Associated Myeloid Malignancy | | ISO | GART (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | ClinVar | PMID:17237124 more ... | Gart | Chinchilla | immunodeficiency 28 | | ISO | GART (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 28 | ClinVar | PMID:17237124 more ... | Gart | Chinchilla | intellectual disability | | ISO | GART (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | Gart | Chinchilla | Parkinson's disease 20 | | ISO | GART (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early-onset Parkinson disease 20 | ClinVar | PMID:28492532 | Gart | Chinchilla | Tracheoesophageal Fistula | | ISO | GART (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tracheoesophageal fistula | ClinVar | PMID:32641753 | Gart | Chinchilla | ZTTK syndrome | | ISO | GART (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: ZTTK syndrome | ClinVar | PMID:25741868 | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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