Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | cone-rod dystrophy | | ISO | ADAM9 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:19409519 more ... | cone-rod dystrophy 9 | | ISO | ADAM9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cone-rod dystrophy 9 | ClinVar | PMID:11581183 more ... | genetic disease | | ISO | ADAM9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | hereditary spastic paraplegia 54 | | ISO | ADAM9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 | ClinVar | PMID:28492532 | hypogonadotropic hypogonadism 2 with or without anosmia | | ISO | ADAM9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia | ClinVar | PMID:12627230 more ... | paraplegia | | ISO | ADAM9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia | ClinVar | PMID:28492532 | retinitis pigmentosa | | ISO | ADAM9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | PMID:26261414 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIA
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
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Molecular Pathway Annotations Click to see Annotation Detail View