Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | chromosome 18q deletion syndrome | | ISO | KDSR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Monosomy 18q and deletion 18q | ClinVar | PMID:25741868 and PMID:31690835 | erythrokeratodermia variabilis et progressiva 4 | | ISO | KDSR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 4 | ClinVar | PMID:25741868 more ... | genetic disease | | ISO | KDSR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | multiple congenital anomalies-hypotonia-seizures syndrome 1 | | ISO | KDSR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 | ClinVar | PMID:10677500 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
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Molecular Pathway Annotations Click to see Annotation Detail View
