Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | amyotrophic lateral sclerosis | | ISO | RGD:11577485 | 9068941 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar | PMID:25741868 more ... | Amyotrophic Lateral Sclerosis, Autosomal Recessive | | ISO | RGD:11579339 | 9068941 | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive | ClinVar | | Amyotrophic Lateral Sclerosis, Autosomal Recessive | | ISO | RGD:11591671 | 9068941 | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive | ClinVar | | Amyotrophic Lateral Sclerosis, Autosomal Recessive | | ISO | RGD:11584429 | 9068941 | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive | ClinVar | | Amyotrophic Lateral Sclerosis, Autosomal Recessive | | ISO | RGD:11588844 | 9068941 | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive | ClinVar | PMID:28492532 | Amyotrophic Lateral Sclerosis, Autosomal Recessive | | ISO | RGD:11582468 | 9068941 | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive | ClinVar | | Amyotrophic Lateral Sclerosis, Autosomal Recessive | | ISO | RGD:11591684 | 9068941 | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive | ClinVar | | Amyotrophic Lateral Sclerosis, Autosomal Recessive | | ISO | RGD:11592192 | 9068941 | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive | ClinVar | | axonal neuropathy | | ISO | RGD:12739022 | 9068941 | ClinVar Annotator: match by term: Peripheral axonal neuropathy | ClinVar | PMID:25741868 | axonal neuropathy | | ISO | RGD:11580268 | 9068941 | ClinVar Annotator: match by term: Peripheral axonal neuropathy | ClinVar | PMID:25741868 more ... | Developmental Disabilities | | ISO | RGD:21405072 | 9068941 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:32581362 | genetic disease | | ISO | RGD:12848940 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:27159321 | genetic disease | | ISO | RGD:10401568 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | hereditary spastic paraplegia | | ISO | RGD:12895701 | 9068941 | ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar | PMID:28492532, PMID:28832565 | hereditary spastic paraplegia | | ISO | RGD:11577485 | 9068941 | ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar | PMID:25741868 more ... | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28897486 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11592364 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:14716319 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:12892503 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11644794 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28890015 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28883919 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28883569 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28883913 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11349478 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:26467025, PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28893604 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28898326 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:15131495 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11645539 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11649359 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28891225 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28893609 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11586619 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11578258 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11580110 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:23881933 more ... | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11544562 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:25741868, PMID:26467025 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28882509 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28902330 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11346833 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:25741868 more ... | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:13609980 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:28430856, PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28882885 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28901815 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28891219 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28882504 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:13609998 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:26467025, PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28890008 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28890993 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:15158696 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11589380 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28890298 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28902783 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11585348 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:13609993 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:18852346, PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11657057 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28883925 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:13489931 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:26467025, PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11588796 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11592976 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11346680 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11583345 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11579211 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11579826 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11578354 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:15146285 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11577485 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:25741868 more ... | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11591241 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11548597 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:25741868, PMID:26467025 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11650779 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:15123625 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:25588603, PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28893874 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11657355 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:13609986 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28882519 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28901811 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11550259 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:25741868 more ... | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11589358 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11579911 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28882893 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11584161 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11592678 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28902582 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28882515 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11552366 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:25741868, PMID:26467025 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28884303 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11586188 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11543213 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:25741868, PMID:26467025 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11583954 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28901536 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28891513 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28897174 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11549686 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:25741868 more ... | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28883575 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11587049 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11585009 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28882882 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28902038 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28902788 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11579669 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:15122353 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28890698 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28883564 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:27159321 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:13492520 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:23881933, PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28898097 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:15161118 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28902044 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11588079 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28901820 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:15153512 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28890988 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28884648 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11587009 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:13484463 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11549288 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:25741868, PMID:26467025 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11580268 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:25741868 more ... | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11544238 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:25741868, PMID:26467025 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:15152874 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11584810 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:26467025, PMID:28492532 | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11545078 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:25741868 more ... | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:11348719 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:14676054 more ... | Juvenile Amyotrophic Lateral Sclerosis | | ISO | RGD:28898610 | 9068941 | ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar | PMID:28492532 | microcephaly | | ISO | RGD:38597092 | 9068941 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | Neurodevelopmental Disorders | | ISO | RGD:14698285 | 9068941 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | Pulmonary Arterial Hypertension | | ISO | RGD:21405137 | 9068941 | ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar | PMID:32581362 | | |||||||
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Imported Disease Annotations - OMIM
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