Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adult-onset autosomal dominant demyelinating leukodystrophy | | ISO | ALDH7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy | ClinVar | PMID:25741868 | benign neonatal seizures | | ISO | ALDH7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: neonatal seizures | ClinVar | PMID:16199547 more ... | developmental and epileptic encephalopathy 1 | | ISO | ALDH7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 1 | ClinVar | PMID:23953072 more ... | developmental and epileptic encephalopathy 13 | | ISO | ALDH7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 13 | ClinVar | PMID:20554659 more ... | early-onset vitamin B6-dependent epilepsy 4 | | ISO | ALDH7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: EPILEPSY more ... | ClinVar | PMID:16159904 more ... | epilepsy | | ISO | ALDH7A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16159904 more ... | epilepsy | | ISO | ALDH7A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16159904 more ... | familial adenomatous polyposis 1 | | ISO | ALDH7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial adenomatous polyposis 1 | ClinVar | PMID:17963004 more ... | genetic disease | | ISO | ALDH7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10971205 more ... | Hereditary Neoplastic Syndromes | | ISO | ALDH7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:17963004 more ... | hydrocephalus | | ISO | ALDH7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ventriculomegaly | ClinVar | PMID:17068770 more ... | intellectual disability | | ISO | ALDH7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 and PMID:28492532 | Leukoencephalopathies | | ISO | ALDH7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leukoencephalopathy | ClinVar | PMID:25741868 and PMID:28492532 | Nervous System Malformations | | ISO | ALDH7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the nervous system | ClinVar | PMID:16491085 more ... | Neurodevelopmental Disorders | | ISO | ALDH7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | pyridoxine-dependent epilepsy | | ISO | ALDH7A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16159904 more ... | Ventriculomegaly | | ISO | ALDH7A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ventriculomegaly | ClinVar | PMID:17068770 more ... | visual epilepsy | | ISO | ALDH7A1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16159904 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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