Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | axonal neuropathy | | ISO | GDAP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Axonal neuropathy | ClinVar | PMID:14561495 more ... | Charcot-Marie-Tooth disease | | ISO | GDAP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar | PMID:11743580 more ... | Charcot-Marie-Tooth disease | | ISO | GDAP1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11743580 more ... | Charcot-Marie-Tooth disease axonal type 2K | | ISO | GDAP1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11743579 more ... | Charcot-Marie-Tooth disease intermediate type | | ISO | GDAP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth and Intermediate | ClinVar | PMID:25741868 and PMID:28492532 | Charcot-Marie-Tooth disease recessive intermediate A | | ISO | GDAP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate A | ClinVar | PMID:11743580 more ... | Charcot-Marie-Tooth disease type 1 | | ISO | GDAP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and type I | ClinVar | | Charcot-Marie-Tooth disease type 4 | | ISO | GDAP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar | PMID:11743580 more ... | Charcot-Marie-Tooth disease type 4A | | ISO | GDAP1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11743579 more ... | Charcot-Marie-Tooth Disease Type 4A, Axonal Form | | ISO | GDAP1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:11743579 more ... | genetic disease | | ISO | GDAP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:12499475 more ... | isolated elevated serum creatine phosphokinase levels | | ISO | GDAP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: HYPERCKEMIA and IDIOPATHIC | ClinVar | PMID:14561495 more ... | mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | | ISO | GDAP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | ClinVar | PMID:28492532 | neuropathy | | ISO | GDAP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peripheral neuropathy | ClinVar | PMID:15377708 more ... | peripheral nervous system disease | | ISO | GDAP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peripheral neuropathy | ClinVar | PMID:15377708 more ... | polyneuropathy | | ISO | GDAP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Polyneuropathy | ClinVar | PMID:14561495 more ... | sensory peripheral neuropathy | | ISO | GDAP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sensory neuropathy | ClinVar | PMID:14561495 more ... | SOST-related sclerosing bone dysplasia | | ISO | GDAP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Elevated alkaline phosphatase | ClinVar | PMID:14561495 more ... | Talipes Cavus | | ISO | GDAP1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pes cavus | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
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