Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | arthrogryposis multiplex congenita-3 | | ISO | SYNE1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:19542096 more ... | autosomal dominant Emery-Dreifuss muscular dystrophy 4 | | ISO | SYNE1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | autosomal recessive cerebellar ataxia | | ISO | SYNE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia | ClinVar | PMID:16199547 more ... | autosomal recessive spinocerebellar ataxia 8 | | ISO | SYNE1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | cerebellar ataxia | | ISO | SYNE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar | PMID:25741868 more ... | chromosome 6q24-q25 deletion syndrome | | ISO | SYNE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome | ClinVar | PMID:25741868 and PMID:38177409 | dilated cardiomyopathy 1A | | ISO | SYNE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar | | Emery-Dreifuss muscular dystrophy | | ISO | SYNE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar | PMID:25741868 more ... | genetic disease | | ISO | SYNE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:16199547 more ... | high grade glioma | | ISO | SYNE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ependymoma | ClinVar | | intellectual disability | | ISO | SYNE1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17761684 more ... | Juvenile Amyotrophic Lateral Sclerosis | | ISO | SYNE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis | ClinVar | PMID:25741868 | Neurodevelopmental Disorders | | ISO | SYNE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar | PMID:28492532 | spastic ataxia | | ISO | SYNE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic ataxia | ClinVar | PMID:19542096 more ... | third-degree atrioventricular block | | ISO | SYNE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Third degree atrioventricular block | ClinVar | | Tremor | | ISO | SYNE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tremor | ClinVar | | X-linked Emery-Dreifuss muscular dystrophy 1 | | ISO | SYNE1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscular dystrophy more ... | ClinVar | PMID:25741868 and PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
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