Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | KIF5A | Pig | amyotrophic lateral sclerosis | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | KIF5A | Pig | amyotrophic lateral sclerosis type 25 | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | KIF5A | Pig | Auditory Neuropathy | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Auditory neuropathy | ClinVar | | KIF5A | Pig | cataract 15 multiple types | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cataract 15 multiple types | ClinVar | PMID:28492532 | KIF5A | Pig | Charcot-Marie-Tooth disease axonal type 2U | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE more ... | ClinVar | PMID:28492532 | KIF5A | Pig | Charcot-Marie-Tooth disease type 2 | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar | PMID:20386726 more ... | KIF5A | Pig | choreatic disease | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Paroxysmal dyskinesia | ClinVar | PMID:25741868 and PMID:28492532 | KIF5A | Pig | demyelinating polyneuropathy | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Demyelinating peripheral neuropathy | ClinVar | PMID:15452312 more ... | KIF5A | Pig | familial melanoma | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial melanoma | ClinVar | PMID:28492532 | KIF5A | Pig | frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | ClinVar | PMID:25741868 more ... | KIF5A | Pig | genetic disease | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | KIF5A | Pig | hereditary spastic paraplegia | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15452312 more ... | KIF5A | Pig | hereditary spastic paraplegia | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar | PMID:15452312 more ... | KIF5A | Pig | hereditary spastic paraplegia 10 | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12355402 more ... | KIF5A | Pig | INTERSTITIAL LUNG AND LIVER DISEASE | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Interstitial lung and liver disease | ClinVar | PMID:28492532 | KIF5A | Pig | Neonatal Intractable Myoclonus | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18500496 more ... | KIF5A | Pig | Nervous System Heredodegenerative Disorders | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inherited neurodegenerative disorder | ClinVar | PMID:25741868 | KIF5A | Pig | neuropathy | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peripheral neuropathy | ClinVar | PMID:18853458 more ... | KIF5A | Pig | paraplegia | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spastic paraplegia | ClinVar | PMID:15452312 more ... | KIF5A | Pig | peripheral nervous system disease | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peripheral neuropathy | ClinVar | PMID:18853458 more ... | KIF5A | Pig | prostate cancer | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar | PMID:23265383 and PMID:28492532 | KIF5A | Pig | schizophrenia | | ISO | KIF5A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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