Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | AQP7 | Human | acromesomelic dysplasia, Maroteaux type | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1 and Maroteaux type | ClinVar | PMID:28492532 | AQP7 | Human | distal arthrogryposis type 1A | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arthrogryposis more ... | ClinVar | PMID:28492532 | AQP7 | Human | frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | ClinVar | PMID:28492532 | AQP7 | Human | galactosemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | ClinVar | PMID:28492532 | AQP7 | Human | primary ciliary dyskinesia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary ciliary dyskinesia | ClinVar | PMID:28492532 | |