Symbol Name ID |
Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor MGI:103076 |
Darker colors indicate more annotations |
Human Phenotypes | Hypocalcemic seizures |
Transient ischemic attack |
Orthostatic hypotension |
Dysphagia |
Spasticity |
Difficulty walking |
Fatigable weakness of bulbar muscles |
Fatigable weakness of swallowing muscles |
Fatigable weakness of respiratory muscles |
Abnormality of the nervous system |
Motor neuron atrophy |
Amyotrophic lateral sclerosis |
Neurodegeneration |
Fasciculations |
Paralysis |
Babinski sign |
Dysarthria |
Language impairment |
Depression |
Emotional lability |
Irritability |
Anxiety |
Atypical behavior |
Polyphagia |
Hyperactivity |
Agitation |
Cognitive impairment |
Frontotemporal dementia |
Excessive daytime somnolence |
Sleep abnormality |
Hyperreflexia |
Jaw hyperreflexia |
Hepatic encephalopathy |
Motor delay |
Seizure |
Paresthesia |
Abnormal autonomic nervous system physiology |
Disease(s) Associated with VDR | |||||||||||||||||||||||||||||||||||||
amyotrophic lateral sclerosis | |||||||||||||||||||||||||||||||||||||
Behcet's disease | |||||||||||||||||||||||||||||||||||||
Fabry disease | |||||||||||||||||||||||||||||||||||||
Graves' disease | |||||||||||||||||||||||||||||||||||||
myopia | |||||||||||||||||||||||||||||||||||||
primary biliary cholangitis | |||||||||||||||||||||||||||||||||||||
vitamin D-dependent rickets type 2A |
Mouse Phenotypes | decreased prepulse inhibition |
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Availability | Mouse Genotype | |
Vdrtm1Ska/Vdrtm1Ska |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 05/07/2024 MGI 6.23 |
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