Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | amyotrophic lateral sclerosis | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar | | atrophic muscular disease | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Distal lower limb amyotrophy | ClinVar | PMID:25741868 more ... | autism spectrum disorder | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 more ... | autosomal dominant cerebellar ataxia | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia | ClinVar | PMID:17576681 more ... | autosomal dominant distal hereditary motor neuronopathy | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neuronopathy more ... | ClinVar | PMID:12730604 more ... | autosomal dominant distal hereditary motor neuronopathy 14 | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Genetic motor neuron disease | ClinVar | PMID:25635128 | autosomal dominant intellectual developmental disorder 13 | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10862709 more ... | autosomal dominant intellectual developmental disorder 13 | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10862709 more ... | cerebellar ataxia | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar | PMID:25741868 | cerebellar hypoplasia | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia | ClinVar | PMID:25741868 and PMID:28492532 | Charcot-Marie-Tooth disease | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar | PMID:17576681 more ... | Charcot-Marie-Tooth disease axonal type 2O | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10862709 more ... | Charcot-Marie-Tooth disease type 1 | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and type I | ClinVar | PMID:25741868 | Charcot-Marie-Tooth disease type 2 | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar | PMID:28492532 | Charcot-Marie-Tooth disease type 4 | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10862709 more ... | Charcot-Marie-Tooth disease type 5 | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 5 | ClinVar | | Developmental Disabilities | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25590979 more ... | epilepsy | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:23603762 more ... | fetal akinesia deformation sequence syndrome 1 | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar | PMID:25741868 more ... | genetic disease | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10862709 more ... | intellectual disability | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:23603762 more ... | intellectual disability | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:23603762 more ... | lissencephaly | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lissencephaly | ClinVar | PMID:23603762 more ... | motor peripheral neuropathy | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy | ClinVar | PMID:10862709 more ... | Muscle Weakness | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Progressive muscle weakness | ClinVar | PMID:25741868 more ... | muscular disease | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscle disorders | ClinVar | PMID:25741868 more ... | myopathy | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myopathy | ClinVar | PMID:25741868 more ... | Nervous System Malformations | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the nervous system | ClinVar | PMID:25741868 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the cerebrum | ClinVar | | Neurodevelopmental Disorders | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | neuropathy | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peripheral neuropathy | ClinVar | PMID:10862709 more ... | peripheral nervous system disease | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peripheral neuropathy | ClinVar | PMID:10862709 more ... | polyneuropathy | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Polyneuropathy | ClinVar | PMID:28492532 | spinal muscular atrophy | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25512093 and PMID:28492532 | spinal muscular atrophy with predominant lower extremity | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spinal muscular atrophy with lower extremity predominance | ClinVar | PMID:23664120 more ... | spinal muscular atrophy with predominant lower extremity 1 | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10862709 more ... | Spinocerebellar Ataxias | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spinocerebellar Ataxia and Dominant | ClinVar | PMID:18414213 more ... | Talipes Cavus | | ISO | DYNC1H1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pes cavus | ClinVar | PMID:25741868 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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