Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | acromesomelic dysplasia | | ISO | NPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acromesomelic dysplasia | ClinVar | PMID:28492532 | acromesomelic dysplasia, Maroteaux type | | ISO | NPR2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15146390 more ... | anauxetic dysplasia | | ISO | NPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anauxetic dysplasia | ClinVar | PMID:28492532 | autosomal recessive distal hereditary motor neuronopathy 2 | | ISO | NPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 | ClinVar | PMID:28492532 | Craniosynostosis Syndrome, Autosomal Recessive | | ISO | NPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Craniosynostosis syndrome | ClinVar | | distal arthrogryposis type 1A | | ISO | NPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arthrogryposis more ... | ClinVar | PMID:28492532 | Dwarfism | | ISO | NPR2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:35741827 | familial focal epilepsy with variable foci 2 | | ISO | NPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epilepsy more ... | ClinVar | PMID:25387261 more ... | frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | | ISO | NPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | ClinVar | PMID:28492532 | galactosemia | | ISO | NPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | ClinVar | PMID:28492532 | genetic disease | | ISO | NPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | hyperphosphatasia with impaired intellectual development syndrome 2 | | ISO | NPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 | ClinVar | PMID:22683086 more ... | intellectual disability | | ISO | NPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | Miura type epiphyseal chondrodysplasia | | ISO | NPR2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | primary ciliary dyskinesia | | ISO | NPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary ciliary dyskinesia | ClinVar | PMID:28492532 | Short Stature with Nonspecific Skeletal Abnormalities | | ISO | NPR2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short stature with nonspecific skeletal abnormalities | ClinVar | PMID:15146390 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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