Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive congenital nystagmus | | ISO | ROBO1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Nystagmus more ... | ClinVar | PMID:25741868 more ... | CAKUT | | ISO | ROBO1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | Combined Pituitary Hormone Deficiency 8 | | ISO | ROBO1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pituitary hormone deficiency more ... | ClinVar | PMID:25741868 more ... | congenital heart disease | | ISO | ROBO1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Heart and malformation of | ClinVar | PMID:25741868 more ... | congenital nystagmus | | ISO | ROBO1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital nystagmus | ClinVar | PMID:25741868 more ... | Dwarfism | | ISO | ROBO1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:25410734 | genetic disease | | ISO | ROBO1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | imperforate anus | | ISO | ROBO1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Imperforate anus | ClinVar | PMID:25741868 | intellectual disability | | ISO | ROBO1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 more ... | NEUROOCULORENAL SYNDROME | | ISO | ROBO1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurooculorenal syndrome | ClinVar | PMID:25741868 more ... | Pituitary Stalk Interruption Syndrome | | ISO | ROBO1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pituitary stalk interruption syndrome | ClinVar | PMID:25741868 more ... | renal agenesis | | ISO | ROBO1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bilateral renal agenesis | ClinVar | PMID:25741868 and PMID:29194579 | tetralogy of Fallot | | ISO | ROBO1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tetralogy of Fallot | ClinVar | PMID:25741868 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
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