Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SLC6A8 | Green Monkey | adrenoleukodystrophy | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar | PMID:10480214 more ... | SLC6A8 | Green Monkey | autistic disorder | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | SLC6A8 | Green Monkey | autosomal hemophilia A | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A | ClinVar | PMID:31690835 | SLC6A8 | Green Monkey | Barth syndrome | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar | PMID:10480214 more ... | SLC6A8 | Green Monkey | cerebral creatine deficiency syndrome 1 | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10480214 more ... | SLC6A8 | Green Monkey | Chromosome Xq28 Duplication Syndrome | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome | ClinVar | | SLC6A8 | Green Monkey | deafness, dystonia, and cerebral hypomyelination | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | ClinVar | PMID:24011989 | SLC6A8 | Green Monkey | Developmental Disease | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 | SLC6A8 | Green Monkey | dyskeratosis congenita | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dyskeratosis congenita | ClinVar | PMID:10480214 more ... | SLC6A8 | Green Monkey | Emery-Dreifuss muscular dystrophy | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy | ClinVar | PMID:10480214 more ... | SLC6A8 | Green Monkey | epilepsy | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:25741868 | SLC6A8 | Green Monkey | factor VIII deficiency | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Factor 8 deficiency and congenital | ClinVar | PMID:31690835 | SLC6A8 | Green Monkey | favism | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anemia more ... | ClinVar | PMID:10480214 more ... | SLC6A8 | Green Monkey | genetic disease | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11326334 more ... | SLC6A8 | Green Monkey | immunodeficiency 33 | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 33 | ClinVar | PMID:25741868 | SLC6A8 | Green Monkey | intellectual disability | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:11326334 more ... | SLC6A8 | Green Monkey | Neurodevelopmental Disorders | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | SLC6A8 | Green Monkey | paraplegia | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia | ClinVar | PMID:10480214 more ... | SLC6A8 | Green Monkey | periventricular nodular heterotopia | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Heterotopia more ... | ClinVar | PMID:10480214 more ... | SLC6A8 | Green Monkey | severe congenital encephalopathy due to MECP2 mutation | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly | ClinVar | PMID:12180070 more ... | SLC6A8 | Green Monkey | Splenomegaly | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Splenomegaly | ClinVar | PMID:25741868 | SLC6A8 | Green Monkey | syndromic X-linked intellectual disability Lubs type | | ISO | SLC6A8 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type | ClinVar | PMID:22679399 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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