Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Charcot-Marie-Tooth disease | | ISO | WNK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar | PMID:15911806 more ... | Charcot-Marie-Tooth disease type 4 | | ISO | WNK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy | ClinVar | PMID:25741868 | genetic disease | | ISO | WNK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:15060842 more ... | hereditary sensory and autonomic neuropathy type 2 | | ISO | WNK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type II | ClinVar | PMID:28492532 | hereditary sensory and autonomic neuropathy type 2A | | ISO | WNK1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15060842 more ... | hereditary sensory and autonomic neuropathy type 2A | | ISO | WNK1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15060842 more ... | hereditary sensory neuropathy | | ISO | WNK1 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | Hyperphosphatemic Familial Tumoral Calcinosis 1 | | ISO | WNK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:25378588 and PMID:29389098 | motor peripheral neuropathy | | ISO | WNK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy | ClinVar | PMID:25741868 | pseudohypoaldosteronism | | ISO | WNK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial | ClinVar | PMID:25741868 more ... | Pseudohypoaldosteronism, Type IIA | | ISO | WNK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome | ClinVar | PMID:25741868 more ... | Pseudohypoaldosteronism, Type IIC | | ISO | WNK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2C | ClinVar | PMID:10869238 more ... | syringomyelia | | ISO | WNK1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Morvan disease | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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