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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MUC2 | Human | Beckwith-Wiedemann syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar | PMID:21910219 more ... | MUC2 | Human | delta beta-thalassemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thalassemia and gamma-delta-beta | ClinVar | PMID:2798417 | MUC2 | Human | developmental and epileptic encephalopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar | PMID:28492532 | MUC2 | Human | early infantile epileptic encephalopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar | PMID:28492532 | MUC2 | Human | immunodeficiency 39 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 39 | ClinVar | PMID:28492532 | MUC2 | Human | neuronal ceroid lipofuscinosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis | ClinVar | PMID:28492532 | MUC2 | Human | Segawa Syndrome, Autosomal Recessive | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia | ClinVar | PMID:28492532 | |