Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | amyotrophic lateral sclerosis type 1 | | ISO | SON (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar | PMID:17237124 more ... | autosomal dominant intellectual developmental disorder 7 | | ISO | SON (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome | ClinVar | PMID:17237124 more ... | Developmental Disabilities | | ISO | SON (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25590979 more ... | Developmental Disease | | ISO | SON (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | genetic disease | | ISO | SON (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25590979 more ... | hereditary spastic paraplegia 17 | | ISO | SON (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 | ClinVar | PMID:25590979 more ... | intellectual disability | | ISO | SON (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | Neurodevelopmental Disorders | | ISO | SON (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25590979 more ... | Parkinson's disease 20 | | ISO | SON (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early-onset Parkinson disease 20 | ClinVar | PMID:28492532 | ZTTK Syndrome | | ISO | SON (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
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