Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | chromosome 1p36 deletion syndrome | | ISO | MIB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome | ClinVar | PMID:25741868 | congenital myasthenic syndrome 8 | | ISO | MIB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 | ClinVar | PMID:24951643 and PMID:28492532 | dilated cardiomyopathy 1LL | | ISO | MIB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Left ventricular noncompaction 8 | ClinVar | PMID:28492532 | Ehlers-Danlos syndrome spondylodysplastic type 2 | | ISO | MIB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome more ... | ClinVar | PMID:10862081 more ... | genetic disease | | ISO | MIB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Goldberg-Shprintzen syndrome | | ISO | MIB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome | ClinVar | PMID:28492532 | idiopathic generalized epilepsy | | ISO | MIB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy | ClinVar | PMID:28492532 | immunodeficiency 16 | | ISO | MIB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency | ClinVar | PMID:10862081 more ... | immunodeficiency 38 | | ISO | MIB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | ClinVar | PMID:10862081 more ... | Joubert syndrome 25 | | ISO | MIB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Joubert syndrome 25 | ClinVar | PMID:10862081 more ... | Neurodevelopmental Disorders | | ISO | MIB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | Peroxisome Biogenesis Disorder, Complementation Group 7 | | ISO | MIB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peroxisome biogenesis disorder and complementation group 7 | ClinVar | PMID:10862081 more ... | Shprintzen-Goldberg Craniosynostosis | | ISO | MIB2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Gene Ontology Annotations Click to see Annotation Detail View
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