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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ASAH1 | Human | benign epilepsy with centrotemporal spikes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rolandic epilepsy | ClinVar | PMID:29358611 | ASAH1 | Human | benign epilepsy with centrotemporal spikes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rolandic epilepsy | ClinVar | PMID:25741868 more ... | ASAH1 | Human | benign epilepsy with centrotemporal spikes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rolandic epilepsy | ClinVar | PMID:25741868 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:26467025 and PMID:28492532 | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:25741868 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: N-Laurylsphingosine deacylase deficiency | ClinVar | PMID:24033266 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:11241842 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: N-Laurylsphingosine deacylase deficiency | ClinVar | PMID:24033266 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:10610716 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:25741868 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:25741868 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: ASAH1-related condition | ClinVar | PMID:22703880 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: ASAH1-related condition | ClinVar | PMID:24164096 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:26467025 | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:16199547 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: ASAH1-related condition | ClinVar | PMID:24164096 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:24355074 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:10610716 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:10610716 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: N-Laurylsphingosine deacylase deficiency | ClinVar | PMID:24355074 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: ASAH1-related condition | ClinVar | PMID:25741868 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:12638942 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:24164096 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:11241842 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: N-Laurylsphingosine deacylase deficiency | ClinVar | PMID:25741868 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:17576681 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:32706452 | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:17576681 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:25741868 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:26945816 | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:10610716 and PMID:25741868 | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:25741868 and PMID:26945816 | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:10610716 more ... | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:24614645 and PMID:25741868 | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:20560208 and PMID:21893389 | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber's lipogranulomatosis | ClinVar | PMID:24033266 and PMID:25741868 | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:23707712 | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:11241842 and PMID:25741868 | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:8955159 | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:16951918 | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:23707712 and PMID:9128814 | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:11241842 | ASAH1 | Human | Farber lipogranulomatosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Farber lipogranulomatosis | ClinVar | PMID:24355074 more ... | ASAH1 | Human | fetal akinesia deformation sequence syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar | PMID:25741868 more ... | ASAH1 | Human | fetal akinesia deformation sequence syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar | PMID:25741868 more ... | ASAH1 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17576681 more ... | ASAH1 | Human | genetic disease | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | ASAH1 | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | ASAH1 | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | ASAH1 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | ASAH1 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:26467025 and PMID:28492532 | ASAH1 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 and PMID:29692406 | ASAH1 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | ASAH1 | Human | hereditary spastic paraplegia 53 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 | ClinVar | PMID:28492532 | ASAH1 | Human | Keloid | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Keloid formation | ClinVar | PMID:28492532 and PMID:28905881 | ASAH1 | Human | Nervous System Malformations | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abnormality of the nervous system | ClinVar | PMID:25741868 | ASAH1 | Human | spinal muscular atrophy with progressive myoclonic epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar | PMID:24164096 more ... | ASAH1 | Human | spinal muscular atrophy with progressive myoclonic epilepsy | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | ASAH1 | Human | spinal muscular atrophy with progressive myoclonic epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MYOCLONUS more ... | ClinVar | PMID:24355074 more ... | ASAH1 | Human | spinal muscular atrophy with progressive myoclonic epilepsy | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MYOCLONUS more ... | ClinVar | PMID:24033266 more ... | ASAH1 | Human | spinal muscular atrophy with progressive myoclonic epilepsy | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MYOCLONUS more ... | ClinVar | PMID:24033266 more ... | ASAH1 | Human | spinal muscular atrophy with progressive myoclonic epilepsy | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | ASAH1 | Human | spinal muscular atrophy with progressive myoclonic epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar | PMID:22703880 more ... | ASAH1 | Human | spinal muscular atrophy with progressive myoclonic epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar | PMID:16199547 more ... | ASAH1 | Human | spinal muscular atrophy with progressive myoclonic epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar | PMID:25741868 more ... | ASAH1 | Human | spinal muscular atrophy with progressive myoclonic epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MYOCLONUS more ... | ClinVar | PMID:24164096 more ... | ASAH1 | Human | spinal muscular atrophy with progressive myoclonic epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar | PMID:24164096 more ... | ASAH1 | Human | spinal muscular atrophy with progressive myoclonic epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar | PMID:22703880 more ... | ASAH1 | Human | spinal muscular atrophy with progressive myoclonic epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar | PMID:25741868 more ... | ASAH1 | Human | spinal muscular atrophy with progressive myoclonic epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MYOCLONUS more ... | ClinVar | PMID:25741868 more ... | ASAH1 | Human | spinal muscular atrophy with progressive myoclonic epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MYOCLONUS more ... | ClinVar | PMID:24033266 and PMID:25741868 | ASAH1 | Human | spinal muscular atrophy with progressive myoclonic epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar | PMID:25326635 and PMID:25741868 | ASAH1 | Human | spinal muscular atrophy with progressive myoclonic epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar | PMID:24164096 | ASAH1 | Human | spinal muscular atrophy with progressive myoclonic epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar | PMID:22703880 | |