Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive limb-girdle muscular dystrophy | | ISO | POMT2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15894594 more ... | autosomal recessive limb-girdle muscular dystrophy type 2N | | ISO | POMT2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15894594 more ... | congenital muscular dystrophy | | ISO | POMT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital muscular dystrophy | ClinVar | | congenital muscular dystrophy-dystroglycanopathy type A1 | | ISO | POMT2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17559086 more ... | congenital muscular dystrophy-dystroglycanopathy type A1 | | ISO | POMT2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15894594 more ... | congenital muscular dystrophy-dystroglycanopathy type A2 | | ISO | POMT2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15894594 more ... | genetic disease | | ISO | POMT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:15894594 more ... | hereditary sensory and autonomic neuropathy type 1C | | ISO | POMT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neuropathy more ... | ClinVar | PMID:28492532 | intellectual disability | | ISO | POMT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:17878207 more ... | isolated elevated serum creatine phosphokinase levels | | ISO | POMT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar | | muscular dystrophy | | ISO | POMT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Muscular dystrophy | ClinVar | PMID:15894594 more ... | muscular dystrophy-dystroglycanopathy type B2 | | ISO | POMT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY more ... | ClinVar | PMID:15894594 more ... | Walker-Warburg syndrome | | ISO | POMT2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pagon syndrome | ClinVar | PMID:17634419 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
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