Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | alternating hemiplegia of childhood | | ISO | ATP1A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alternating hemiplegia of childhood | ClinVar | PMID:25741868 and PMID:28492532 | Alternating Hemiplegia of Childhood 1 | | ISO | ATP1A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 | ClinVar | PMID:11439943 more ... | autoimmune interstitial lung, joint, and kidney disease | | ISO | ATP1A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome | ClinVar | PMID:28492532 | benign familial infantile seizures 3 | | ISO | ATP1A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizures more ... | ClinVar | | developmental and epileptic encephalopathy 98 | | ISO | ATP1A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 98 | ClinVar | PMID:15159495 more ... | EAST syndrome | | ISO | ATP1A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: EAST syndrome | ClinVar | PMID:28492532 | epilepsy | | ISO | ATP1A2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18644608 more ... | Familial Basilar Migraine | | ISO | ATP1A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Migraine and familial basilar | ClinVar | PMID:16344534 more ... | familial hemiplegic migraine | | ISO | ATP1A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial hemiplegic migraine | ClinVar | PMID:11439943 more ... | familial hemiplegic migraine 2 | | ISO | ATP1A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Migraine more ... | ClinVar | PMID:11439943 more ... | FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES | | ISO | ATP1A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fetal akinesia more ... | ClinVar | PMID:15159495 more ... | gastrointestinal stromal tumor | | ISO | ATP1A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar | PMID:28492532 | Generalized Epilepsy | | ISO | ATP1A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar | PMID:16538223 more ... | genetic disease | | ISO | ATP1A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:15174025 more ... | hemiplegia | | ISO | ATP1A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hemiplegia | ClinVar | PMID:25741868 and PMID:28492532 | parathyroid carcinoma | | ISO | ATP1A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Parathyroid carcinoma | ClinVar | PMID:28492532 | Paresis | | ISO | ATP1A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hemiparesis | ClinVar | PMID:30311386 | peroxisome biogenesis disorder 12A | | ISO | ATP1A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) | ClinVar | PMID:28492532 | polymicrogyria | | ISO | ATP1A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Polymicrogyria | ClinVar | PMID:25741868 and PMID:31608932 | spastic ataxia | | ISO | ATP1A2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic ataxia | ClinVar | PMID:25741868 | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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