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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CACNA1A | Dog | Aicardi-Goutieres Syndrome 4 | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar | PMID:10371528 more ... | CACNA1A | Dog | alpha-mannosidosis | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deficiency of alpha-mannosidase | ClinVar | PMID:28492532 | CACNA1A | Dog | Alternating Hemiplegia of Childhood 1 | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 | ClinVar | PMID:25741868 | CACNA1A | Dog | amyotrophic lateral sclerosis | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar | PMID:25741868 | CACNA1A | Dog | attention deficit hyperactivity disorder | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Attention deficit hyperactivity disorder | ClinVar | PMID:25741868 | CACNA1A | Dog | Auditory Neuropathy | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Auditory neuropathy | ClinVar | | CACNA1A | Dog | autism spectrum disorder | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:25741868 and PMID:28492532 | CACNA1A | Dog | autistic disorder | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autistic behavior | ClinVar | PMID:25741868 | CACNA1A | Dog | bone marrow disease | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bone marrow hypocellularity | ClinVar | PMID:25741868 more ... | CACNA1A | Dog | cerebellar ataxia | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar | PMID:10371528 more ... | CACNA1A | Dog | cerebral palsy | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebral palsy | ClinVar | PMID:25741868 | CACNA1A | Dog | cerebral venous thrombosis | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebral venous thrombosis | ClinVar | PMID:25741868 more ... | CACNA1A | Dog | Charcot-Marie-Tooth disease dominant intermediate B | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B | ClinVar | PMID:28492532 | CACNA1A | Dog | combined immunodeficiency | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Combined immunodeficiency | ClinVar | PMID:25741868 more ... | CACNA1A | Dog | combined T cell and B cell immunodeficiency | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Combined T and B cell immunodeficiency | ClinVar | PMID:25741868 more ... | CACNA1A | Dog | developmental and epileptic encephalopathy 1 | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 1 | ClinVar | PMID:25741868 and PMID:28492532 | CACNA1A | Dog | developmental and epileptic encephalopathy 2 | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 2 | ClinVar | PMID:25741868 | CACNA1A | Dog | developmental and epileptic encephalopathy 42 | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10024348 more ... | CACNA1A | Dog | developmental and epileptic encephalopathy 52 | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epileptic encephalopathy more ... | ClinVar | PMID:11439943 more ... | CACNA1A | Dog | Developmental Disabilities | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:16325861 more ... | CACNA1A | Dog | disorder of sexual development | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Disorder of sexual differentiation | ClinVar | | CACNA1A | Dog | Dysarthria | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dysarthria | ClinVar | PMID:28492532 | CACNA1A | Dog | epilepsy | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:10408532 more ... | CACNA1A | Dog | episodic ataxia | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary episodic ataxia | ClinVar | PMID:20129625 more ... | CACNA1A | Dog | episodic ataxia type 2 | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10024348 more ... | CACNA1A | Dog | episodic ataxia type 2 | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:9329229 more ... | CACNA1A | Dog | episodic ataxia type 2 | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10024348 more ... | CACNA1A | Dog | familial hemiplegic migraine | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial hemiplegic migraine | ClinVar | PMID:10024348 more ... | CACNA1A | Dog | familial hemiplegic migraine 1 | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10024348 more ... | CACNA1A | Dog | familial hemiplegic migraine 1 | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10024348 more ... | CACNA1A | Dog | Generalized Epilepsy | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar | PMID:10371528 more ... | CACNA1A | Dog | genetic disease | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10024348 more ... | CACNA1A | Dog | glutaric acidemia I | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glutaric aciduria and type 1 | ClinVar | PMID:10371528 more ... | CACNA1A | Dog | intellectual disability | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:20156848 more ... | CACNA1A | Dog | intellectual disability | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:20129625 more ... | CACNA1A | Dog | learning disability | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Specific learning disability | ClinVar | PMID:25741868 | CACNA1A | Dog | Marshall-Smith syndrome | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Marshall-Smith syndrome | ClinVar | PMID:20673863 more ... | CACNA1A | Dog | migraine | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Migraine | ClinVar | PMID:22249839 more ... | CACNA1A | Dog | Muscle Spasticity | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spasticity | ClinVar | PMID:25741868 more ... | CACNA1A | Dog | Muscle Weakness | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscle weakness | ClinVar | PMID:25741868 more ... | CACNA1A | Dog | myelitis | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myelitis | ClinVar | PMID:25741868 more ... | CACNA1A | Dog | myoclonic-atonic epilepsy | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy | ClinVar | PMID:25735478 more ... | CACNA1A | Dog | Nervous System Malformations | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the nervous system | ClinVar | PMID:23934111 more ... | CACNA1A | Dog | neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia more ... | ClinVar | | CACNA1A | Dog | Neurodevelopmental Disorders | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | CACNA1A | Dog | neurogenic bladder | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurogenic bladder | ClinVar | PMID:25741868 more ... | CACNA1A | Dog | Neurologic Gait Disorders | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic gait | ClinVar | PMID:25741868 more ... | CACNA1A | Dog | progressive bulbar palsy | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bulbar palsy | ClinVar | PMID:10371528 more ... | CACNA1A | Dog | spastic ataxia | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic ataxia | ClinVar | PMID:25741868 and PMID:26467025 | CACNA1A | Dog | Spastic Paraparesis | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic paraparesis | ClinVar | PMID:28492532 | CACNA1A | Dog | spinocerebellar ataxia type 6 | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 6 | ClinVar | PMID:10371528 more ... | CACNA1A | Dog | Sporadic Hemiplegic Migraine | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sporadic hemiplegic migraine | ClinVar | PMID:10408534 more ... | CACNA1A | Dog | subependymal giant cell astrocytoma | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma | ClinVar | PMID:25741868 and PMID:28492532 | CACNA1A | Dog | sudden infant death syndrome | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar | PMID:25741868 and PMID:28492532 | CACNA1A | Dog | Tremor | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intention tremor | ClinVar | PMID:28492532 | CACNA1A | Dog | vascular dementia | | ISO | CACNA1A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Vascular dementia | ClinVar | PMID:25741868 and PMID:33268848 | |