Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | B4GALT1 | Dog | acromesomelic dysplasia, Maroteaux type | | ISO | B4GALT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1 and Maroteaux type | ClinVar | PMID:28492532 | B4GALT1 | Dog | congenital disorder of glycosylation | | ISO | B4GALT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar | PMID:25741868 and PMID:28492532 | B4GALT1 | Dog | congenital disorder of glycosylation type IId | | ISO | B4GALT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2D | ClinVar | PMID:11901181 more ... | B4GALT1 | Dog | distal arthrogryposis type 1A | | ISO | B4GALT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arthrogryposis more ... | ClinVar | PMID:28492532 | B4GALT1 | Dog | frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | | ISO | B4GALT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | ClinVar | PMID:28492532 | B4GALT1 | Dog | galactosemia | | ISO | B4GALT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | ClinVar | PMID:28492532 | B4GALT1 | Dog | genetic disease | | ISO | B4GALT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | B4GALT1 | Dog | hyaline fibromatosis syndrome | | ISO | B4GALT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyalinosis and Inherited Systemic | ClinVar | PMID:25741868 and PMID:28492532 | B4GALT1 | Dog | primary ciliary dyskinesia | | ISO | B4GALT1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary ciliary dyskinesia | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - MGI
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