Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | LOC103219228 | Green Monkey | acromesomelic dysplasia, Maroteaux type | | ISO | UNC13B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1 and Maroteaux type | ClinVar | PMID:28492532 | LOC103219228 | Green Monkey | anauxetic dysplasia | | ISO | UNC13B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anauxetic dysplasia | ClinVar | PMID:28492532 | LOC103219228 | Green Monkey | autosomal recessive distal hereditary motor neuronopathy 2 | | ISO | UNC13B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 | ClinVar | PMID:28492532 | LOC103219228 | Green Monkey | distal arthrogryposis type 1A | | ISO | UNC13B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arthrogryposis more ... | ClinVar | PMID:28492532 | LOC103219228 | Green Monkey | frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | | ISO | UNC13B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | ClinVar | PMID:28492532 | LOC103219228 | Green Monkey | galactosemia | | ISO | UNC13B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | ClinVar | PMID:28492532 | LOC103219228 | Green Monkey | hyperphosphatasia with impaired intellectual development syndrome 2 | | ISO | UNC13B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 | ClinVar | PMID:22683086 more ... | LOC103219228 | Green Monkey | paraplegia | | ISO | UNC13B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia | ClinVar | PMID:23332916 more ... | LOC103219228 | Green Monkey | primary ciliary dyskinesia | | ISO | UNC13B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary ciliary dyskinesia | ClinVar | PMID:28492532 | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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