Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 and PMID:28492532 | cerebellar hypoplasia | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia | ClinVar | PMID:25741868 and PMID:28492532 | Coffin-Siris syndrome | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar | PMID:25741868 | Coffin-Siris syndrome 1 | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:22426308 more ... | Coffin-Siris syndrome 2 | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18414213 more ... | colorectal cancer | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar | | endometrial carcinoma | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Endometrial carcinoma | ClinVar | | epilepsy | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:22009941 more ... | hepatoblastoma | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hepatoblastoma | ClinVar | PMID:26822237 | Hydrops Fetalis | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Non-immune hydrops fetalis | ClinVar | PMID:25741868 | intellectual disability | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | intellectual disability | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | Marfanoid Mental Retardation Syndrome, Autosomal | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability | ClinVar | PMID:25741868 and PMID:28492532 | medulloblastoma | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Medulloblastoma | ClinVar | PMID:26822237 | microcephaly | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 and PMID:28492532 | Neurodevelopmental Disorders | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | ovary serous adenocarcinoma | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary low grade serous adenocarcinoma of ovary | ClinVar | | periventricular leukomalacia | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Periventricular leukomalacia | ClinVar | PMID:25741868 and PMID:28492532 | retinitis pigmentosa 59 | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa 59 | ClinVar | PMID:28492532 | septooptic dysplasia | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | ClinVar | PMID:25741868 and PMID:35885948 | urinary bladder cancer | | ISO | ARID1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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