Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NEFH | Human | amyotrophic lateral sclerosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar | PMID:25741868 and PMID:28492532 | NEFH | Human | amyotrophic lateral sclerosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar | PMID:28492532 | NEFH | Human | amyotrophic lateral sclerosis type 1 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar | PMID:28492532 | NEFH | Human | amyotrophic lateral sclerosis type 1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | NEFH | Human | amyotrophic lateral sclerosis type 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar | PMID:25741868 more ... | NEFH | Human | amyotrophic lateral sclerosis type 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NEFH-related condition | ClinVar | PMID:25741868 more ... | NEFH | Human | amyotrophic lateral sclerosis type 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NEFH-related condition | ClinVar | PMID:25741868 more ... | NEFH | Human | amyotrophic lateral sclerosis type 1 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NEFH-related condition | ClinVar | PMID:25741868 | NEFH | Human | Breast Cancer, Familial | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial cancer of breast | ClinVar | PMID:21876083 more ... | NEFH | Human | Breast Cancer, Familial | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial cancer of breast | ClinVar | PMID:16551709 more ... | NEFH | Human | Charcot-Marie-Tooth disease axonal type 2C | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C | ClinVar | PMID:25741868 | NEFH | Human | Charcot-Marie-Tooth disease axonal type 2CC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC | ClinVar | PMID:27040688 | NEFH | Human | Charcot-Marie-Tooth disease axonal type 2CC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NEFH-related condition | ClinVar | PMID:25741868 more ... | NEFH | Human | Charcot-Marie-Tooth disease axonal type 2CC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NEFH-related condition | ClinVar | PMID:25741868 more ... | NEFH | Human | Charcot-Marie-Tooth disease axonal type 2CC | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | NEFH | Human | Charcot-Marie-Tooth disease axonal type 2CC | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | NEFH | Human | Charcot-Marie-Tooth disease axonal type 2CC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC | ClinVar | PMID:27040688 more ... | NEFH | Human | Charcot-Marie-Tooth disease axonal type 2CC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC | ClinVar | PMID:25741868 and PMID:30992180 | NEFH | Human | Charcot-Marie-Tooth disease axonal type 2CC | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC | ClinVar | PMID:28492532 | NEFH | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:23056405 | NEFH | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | NEFH | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | NEFH | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | NEFH | Human | genetic disease | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | NEFH | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | NEFH | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 and PMID:31475037 | NEFH | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 and PMID:33589474 | NEFH | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:23056405 and PMID:28492532 | NEFH | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:27040688 more ... | NEFH | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17576681 more ... | NEFH | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 and PMID:28717666 | NEFH | Human | neuropathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peripheral neuropathy | ClinVar | PMID:28492532 | NEFH | Human | neuropathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peripheral neuropathy | ClinVar | PMID:25741868 and PMID:28492532 | NEFH | Human | peripheral nervous system disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peripheral neuropathy | ClinVar | PMID:25741868 and PMID:28492532 | NEFH | Human | peripheral nervous system disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Peripheral neuropathy | ClinVar | PMID:28492532 | NEFH | Human | vestibular schwannomatosis | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurofibromatosis and type 2 | ClinVar | PMID:10220142 more ... | NEFH | Human | vestibular schwannomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurofibromatosis and type 2 | ClinVar | PMID:16983642 more ... | |