Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 1q24 Deletion Syndrome | | ISO | LAMC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome | ClinVar | PMID:21548129 more ... | amelogenesis imperfecta | | ISO | LAMC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 | ClinVar | PMID:25741868 and PMID:28492532 | autosomal recessive chronic granulomatous disease 2 | | ISO | LAMC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Granulomatous disease more ... | ClinVar | PMID:28492532 | gastrointestinal stromal tumor | | ISO | LAMC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar | PMID:28492532 | genetic disease | | ISO | LAMC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | junctional epidermolysis bullosa | | ISO | LAMC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Junctional epidermolysis bullosa | ClinVar | PMID:11231327 more ... | Junctional Epidermolysis Bullosa 1B, Severe | | ISO | LAMC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA more ... | ClinVar | PMID:11907499 more ... | Junctional Epidermolysis Bullosa 3A, Intermediate | | ISO | LAMC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epidermolysis bullosa more ... | ClinVar | PMID:11564184 more ... | Junctional Epidermolysis Bullosa 3B, Severe | | ISO | LAMC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epidermolysis bullosa more ... | ClinVar | PMID:10951251 more ... | junctional epidermolysis bullosa Herlitz type | | ISO | LAMC2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11231327 more ... | junctional epidermolysis bullosa non-Herlitz type | | ISO | LAMC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Junctional epidermolysis bullosa and non-Herlitz type | ClinVar | PMID:11564184 more ... | parathyroid carcinoma | | ISO | LAMC2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Parathyroid carcinoma | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
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