Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal dominant osteopetrosis 2 | | ISO | CLCN7 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11468688 more ... | autosomal recessive osteopetrosis 4 | | ISO | CLCN7 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11207362 more ... | connective tissue disease | | ISO | CLCN7 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 and PMID:28492532 | epilepsy | | ISO | CLCN7 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epilepsy | ClinVar | PMID:28492532 | genetic disease | | ISO | CLCN7 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11741829 more ... | HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT | | ISO | CLCN7 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypopigmentation more ... | ClinVar | PMID:25741868 more ... | idiopathic generalized epilepsy | | ISO | CLCN7 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy | ClinVar | PMID:28492532 | osteopetrosis | | ISO | CLCN7 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11741829 more ... | osteosclerosis | | ISO | CLCN7 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Osteosclerosis | ClinVar | PMID:11741829 more ... | short-rib thoracic dysplasia 9 with or without polydactyly | | ISO | CLCN7 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar | PMID:19370764 more ... | tuberous sclerosis 2 | | ISO | CLCN7 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tuberous sclerosis 2 | ClinVar | PMID:16114042 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
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