Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | arteriovenous malformations of the brain | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar | PMID:25741868 | Bardet-Biedl syndrome | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bardet-Biedl syndrome | ClinVar | PMID:25741868 more ... | Craniosynostosis Syndrome, Autosomal Recessive | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Craniosynostosis syndrome | ClinVar | PMID:31292255 | Culler-Jones syndrome | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Culler-Jones syndrome | ClinVar | PMID:15994174 more ... | Developmental Disease | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | disorder of sexual development | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Disorder of sexual differentiation | ClinVar | PMID:25741868 | enophthalmos | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Enophthalmos | ClinVar | PMID:25741868 | epilepsy | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:25741868 and PMID:28492532 | essential tremor 1 | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hand tremor | ClinVar | PMID:25741868 | exostosis | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Exostosis | ClinVar | PMID:25741868 | genetic disease | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:14581620 more ... | Growth Disorders | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Growth Retardation | ClinVar | | holoprosencephaly | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | | holoprosencephaly 1 | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Holoprosencephaly 1 | ClinVar | PMID:25741868 and PMID:28492532 | Holoprosencephaly 10 | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES | ClinVar | PMID:25741868 and PMID:28492532 | holoprosencephaly 9 | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10725236 more ... | Hypertelorism | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertelorism | ClinVar | PMID:25741868 | intellectual disability | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: intellectual disabilities | ClinVar | PMID:25741868 | microcephaly | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | Pituitary Stalk Interruption Syndrome | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pituitary stalk interruption syndrome | ClinVar | PMID:25741868 | syndromic microphthalmia 5 | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome | ClinVar | PMID:25741868 more ... | Tremor | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tremor | ClinVar | PMID:25741868 | White-Sutton syndrome | | ISO | GLI2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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