Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adrenal cortical adenoma | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma | ClinVar | PMID:23416519 | adrenoleukodystrophy | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar | PMID:10480214 more ... | autistic disorder | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | Barth syndrome | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar | PMID:10480214 more ... | cerebral creatine deficiency syndrome 1 | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar | PMID:10480214 more ... | Developmental Disabilities | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 | dyskeratosis congenita | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita | ClinVar | PMID:18177777 and PMID:28492532 | Emery-Dreifuss muscular dystrophy | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy | ClinVar | PMID:10480214 more ... | favism | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anemia more ... | ClinVar | PMID:18177777 and PMID:28492532 | fetal akinesia deformation sequence syndrome 1 | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar | PMID:25741868 and PMID:31680123 | genetic disease | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10797423 more ... | immunodeficiency 33 | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 33 | ClinVar | PMID:25741868 | Meester-Loeys syndrome | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Meester-Loeys syndrome | ClinVar | PMID:27632686 | Muscle Hypotonia | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal hypotonia | ClinVar | PMID:25741868 | Neurodevelopmental Disorders | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | paraplegia | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia | ClinVar | PMID:10480214 more ... | periventricular nodular heterotopia | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Heterotopia more ... | ClinVar | PMID:10480214 more ... | spastic ataxia | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic ataxia | ClinVar | PMID:25741868 | Splenomegaly | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Splenomegaly | ClinVar | PMID:25741868 | syndromic X-linked intellectual disability Lubs type | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:22679399 more ... | thoracic aortic aneurysm | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections | ClinVar | PMID:27632686 | X-linked spinocerebellar ataxia 1 | | ISO | ATP2B3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked progressive cerebellar ataxia | ClinVar | PMID:10797423 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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