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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | DNMT3L | Human | autistic disorder | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | DNMT3L | Human | autoimmune polyendocrine syndrome type 1 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Polyglandular autoimmune syndrome and type 1 | ClinVar | PMID:28492532 | DNMT3L | Human | cataract 9 multiple types | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cataract 9 multiple types | ClinVar | PMID:28492532 | DNMT3L | Human | developmental and epileptic encephalopathy 30 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 30 | ClinVar | PMID:28492532 and PMID:8596935 | DNMT3L | Human | developmental and epileptic encephalopathy 30 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 30 | ClinVar | PMID:28492532 | DNMT3L | Human | homocystinuria | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA more ... | ClinVar | PMID:10338090 more ... | DNMT3L | Human | Neurodevelopmental Disorders | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | DNMT3L | Human | primary ciliary dyskinesia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary ciliary dyskinesia | ClinVar | PMID:28492532 | DNMT3L | Human | progressive myoclonus epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar | PMID:28492532 and PMID:8596935 | |