Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | PLEKHN1 | Green Monkey | chromosome 1p36 deletion syndrome | | ISO | PLEKHN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome | ClinVar | PMID:25741868 | PLEKHN1 | Green Monkey | Ehlers-Danlos syndrome spondylodysplastic type 2 | | ISO | PLEKHN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome more ... | ClinVar | PMID:10862081 more ... | PLEKHN1 | Green Monkey | immunodeficiency 16 | | ISO | PLEKHN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency | ClinVar | PMID:10862081 more ... | PLEKHN1 | Green Monkey | immunodeficiency 38 | | ISO | PLEKHN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | ClinVar | PMID:10862081 more ... | PLEKHN1 | Green Monkey | Joubert syndrome 25 | | ISO | PLEKHN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 25 | ClinVar | PMID:10862081 more ... | PLEKHN1 | Green Monkey | Neurodevelopmental Disorders | | ISO | PLEKHN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | PLEKHN1 | Green Monkey | Peroxisome Biogenesis Disorder, Complementation Group 7 | | ISO | PLEKHN1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peroxisome biogenesis disorder and complementation group 7 | ClinVar | PMID:10862081 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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